Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_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_NTotCov_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVarCov_SOL	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_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	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
C1orf89	79363	hgsc.bcm.edu	37	1	16563182	16563182	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:16563182G>A	ENST00000375599.3	-	1	475	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	19					cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						CTTGCCCTCGGCACTCTCGTG	0.632																																					p.A19V		.											.	.	.	0			c.C56T						.						42	30	34					1																	16563182		2184	4247	6431	SO:0001583	missense	79363	exon1			CCCTCGGCACTCT	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.56C>T	1.37:g.16563182G>A	ENSP00000364749:p.Ala19Val	55	0		70	4	NM_030907	Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.505928	0.26949	.	.	ENSG00000132881	ENST00000375599	T	0.55760	0.5	4.39	2.47	0.30058	.	0.524501	0.19330	N	0.116917	T	0.27241	0.0668	N	0.08118	0	0.20873	N	0.999835	B	0.02656	0.0	B	0.01281	0.0	T	0.13176	-1.0519	10	0.28530	T	0.3	-5.5505	6.3485	0.21363	0.2227:0.0:0.7773:0.0	.	19	Q9BU20	RSG1_HUMAN	V	19	ENSP00000364749:A19V	ENSP00000364749:A19V	A	-	2	0	RSG1	16435769	0.497000	0.26067	0.853000	0.33588	0.515000	0.34225	3.315000	0.51951	0.574000	0.29417	0.305000	0.20034	GCC	.		0.632	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		A	16563182	G	A	16563182	3	1	1	1	0	0	0	0	1	0	0	0	2073	1203	42	3	740	3	C1orf89	1	16563182	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		16563182	232687439	1	1											
MAN1C1	57134	hgsc.bcm.edu	37	1	26079974	26079974	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:26079974G>T	ENST00000374332.4	+	5	1164		c.e5-1		MAN1C1_ENST00000473891.1_Splice_Site|MAN1C1_ENST00000263979.3_Splice_Site|MAN1C1_ENST00000374329.1_Splice_Site	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1						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)		CTCCTTTACAGGTGTTCCGAA	0.587																																					.		.											MAN1C1,NS,carcinoma,0,1	MAN1C1	0	0			c.835-1G>T						.						48	43	45					1																	26079974		2203	4300	6503	SO:0001630	splice_region_variant	57134	exon5			TTTACAGGTGTTC	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.835-1G>T	1.37:g.26079974G>T		39	1		47	2	NM_020379	A6NNE2|B2RNP2|Q9Y545	Splice_Site	SNP	ENST00000374332.4	37	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923876	0.73213	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	.	.	.	4.93	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5501	0.50716	0.085:0.0:0.915:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN1C1	25952561	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	8.617000	0.90927	1.202000	0.43218	0.561000	0.74099	.	.		0.587	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379	Intron	T	26079974	G	T	26079974	5	4	1	1	0	0	0	0	0	0	1	0	9251	1014	35	3	852	3	MAN1C1	1	26079974	Splice_Site	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	9516792	26079974	223170647	2	2											
ADC	113451	hgsc.bcm.edu	37	1	33583665	33583665	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:33583665T>C	ENST00000294517.6	+	11	1779	c.1192T>C	c.(1192-1194)Ttt>Ctt	p.F398L	ADC_ENST00000398167.1_Missense_Mutation_p.F418L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.F398L|ADC_ENST00000373441.1_Missense_Mutation_p.F418L	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		398					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GGGTTCCCCCTTTTGGGGGAC	0.622																																					p.F398L		.											.	.	.	0			c.T1192C						.						42	51	48					1																	33583665		2203	4300	6503	SO:0001583	missense	113451	exon11			TCCCCCTTTTGGG																												ENST00000294517.6:c.1192T>C	1.37:g.33583665T>C	ENSP00000294517:p.Phe398Leu	46	0		96	4	NM_052998	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	CCDS375.1	.	.	.	.	.	.	.	.	.	.	T	6.387	0.439479	0.12104	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	4.92	-3.2	0.05156	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	2.546130	0.01512	N	0.017982	T	0.47322	0.1439	L	0.52905	1.665	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.0;0.003;0.003	T	0.20940	-1.0260	10	0.45353	T	0.12	-0.3489	0.8754	0.01223	0.2324:0.2919:0.1142:0.3615	.	418;303;398	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	L	398;398;418;418	ENSP00000294517:F398L;ENSP00000362542:F398L;ENSP00000381233:F418L;ENSP00000362540:F418L	ENSP00000294517:F398L	F	+	1	0	ADC	33356252	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.352000	0.20113	-0.243000	0.09653	-1.016000	0.02456	TTT	.		0.622	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			C	33583665	T	C	33583665	3	2	1	1	0	0	0	0	1	0	0	0	287	1609	56	4	1222	4	ADC	1	33583665	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	7503691	33583665	215666956	3	3											
PCSK9	255738	hgsc.bcm.edu	37	1	55505552	55505552	+	Silent	SNP	A	A	G	rs35574083|rs371488778|rs113330492|rs45454392	byFrequency	TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:55505552A>G	ENST00000302118.5	+	1	332	c.42A>G	c.(40-42)ccA>ccG	p.P14P	PCSK9_ENST00000452118.2_Silent_p.P14P|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	14					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)	p.P14_L15insL(2)		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						Ggccgctgccactgctgctgc	0.706																																					p.P14P	Pancreas(137;1454 1827 5886 22361 42375)	.											.,7	.	76	2	Insertion - In frame(2)	breast(1)|central_nervous_system(1)	c.A42G						.						10	10	10					1																	55505552		2070	4074	6144	SO:0001819	synonymous_variant	255738	exon1			GCTGCCACTGCTG	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.42A>G	1.37:g.55505552A>G		63	0		69	3	NM_174936	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																			.		0.706	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		G	55505552	A	G	55505552	2	3	1	1	0	0	0	0	0	0	0	1	11645	146	6	4		4	PCSK9	1	55505552	Silent	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	21921887	55505552	193745069	4	4											
DOCK7	85440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	63018485	63018485	+	Missense_Mutation	SNP	C	C	T	rs573187574		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:63018485C>T	ENST00000340370.5	-	22	2701	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	DOCK7_ENST00000251157.5_Missense_Mutation_p.R895Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	895					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						ACTAAGGCTTCGAGAACGATT	0.453													C|||	1	0.000199681	0	0	5008	,	,		14963	0.001		0	False		,,,				2504	0				p.R895Q		.											.	.	.	0			c.G2684A						.						99	92	95					1																	63018485		2203	4300	6503	SO:0001583	missense	85440	exon22			AGGCTTCGAGAAC		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.2684G>A	1.37:g.63018485C>T	ENSP00000340742:p.Arg895Gln	70	0		83	10	NM_001271999	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239878	0.79912	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14640	2.49;2.51	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	N	0.17631	0.505	0.80722	D	1	B;B;B;P;B	0.40602	0.101;0.101;0.101;0.723;0.358	B;B;B;B;B	0.38712	0.038;0.048;0.048;0.28;0.091	T	0.07790	-1.0754	10	0.54805	T	0.06	.	18.3751	0.90433	0.0:1.0:0.0:0.0	.	895;895;895;895;895	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	Q	895	ENSP00000251157:R895Q;ENSP00000340742:R895Q	ENSP00000251157:R895Q	R	-	2	0	DOCK7	62791073	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.831000	0.69330	2.564000	0.86499	0.585000	0.79938	CGA	.		0.453	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	63018485	C	T	63018485	3	4	1	1	0	0	0	0	1	0	0	0	4706	884	31	1	3757	1	DOCK7	1	63018485	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	7512933	63018485	186232136	5	5											
IL12RB2	3595	hgsc.bcm.edu	37	1	67787288	67787288	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:67787288C>T	ENST00000262345.1	+	3	720	c.80C>T	c.(79-81)gCg>gTg	p.A27V	IL12RB2_ENST00000371000.1_Missense_Mutation_p.A27V|IL12RB2_ENST00000544434.1_Missense_Mutation_p.A27V|IL12RB2_ENST00000541374.1_Missense_Mutation_p.A27V	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	27					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)	p.A27G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATTGCAGATGCGTGCAAGAGA	0.378																																					p.A27V		.											IL12RB2,NS,carcinoma,0,1	IL12RB2	0	1	Substitution - Missense(1)	lung(1)	c.C80T						.						105	96	99					1																	67787288		2203	4300	6503	SO:0001583	missense	3595	exon3			CAGATGCGTGCAA	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.80C>T	1.37:g.67787288C>T	ENSP00000262345:p.Ala27Val	43	0		57	3	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.824689	0.00589	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.56	1.84	0.25277	Immunoglobulin C2-set-like, ligand-binding (1);	0.436821	0.25860	N	0.027824	T	0.19366	0.0465	N	0.03050	-0.425	0.19300	N	0.999979	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.32955	-0.9887	10	0.16896	T	0.51	-3.9302	3.8963	0.09141	0.1587:0.1723:0.0:0.669	.	27;27;27;27	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	V	27	ENSP00000262345:A27V;ENSP00000360039:A27V;ENSP00000445276:A27V;ENSP00000442443:A27V	ENSP00000262345:A27V	A	+	2	0	IL12RB2	67559876	0.138000	0.22547	0.998000	0.56505	0.009000	0.06853	0.049000	0.14099	0.068000	0.16574	-1.878000	0.00547	GCG	.		0.378	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		T	67787288	C	T	67787288	3	4	1	1	0	0	0	0	1	0	0	0	7654	768	27	1	86	1	IL12RB2	1	67787288	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	4768803	67787288	181463333	6	6											
CLCA2	9635	hgsc.bcm.edu	37	1	86913194	86913194	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:86913194G>T	ENST00000370565.4	+	11	1879	c.1717G>T	c.(1717-1719)Ggg>Tgg	p.G573W		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	573					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)		TTTACAGCCTGGGCACTGGAC	0.438																																					p.G573W	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	.											CLCA2,NS,carcinoma,0,1	CLCA2	0	0			c.G1717T						.						126	124	125					1																	86913194		2203	4300	6503	SO:0001583	missense	9635	exon11			CAGCCTGGGCACT		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.1717G>T	1.37:g.86913194G>T	ENSP00000359596:p.Gly573Trp	58	0		69	3	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692417	0.48202	.	.	ENSG00000137975	ENST00000370565	T	0.63096	-0.02	5.61	5.61	0.85477	Domain of unknown function DUF1973 (1);	0.061916	0.64402	D	0.000005	T	0.81800	0.4899	M	0.90082	3.085	0.51233	D	0.999912	D	0.89917	1.0	D	0.97110	1.0	D	0.85025	0.0914	10	0.87932	D	0	-14.5965	19.2426	0.93889	0.0:0.0:1.0:0.0	.	573	Q9UQC9	CLCA2_HUMAN	W	573	ENSP00000359596:G573W	ENSP00000359596:G573W	G	+	1	0	CLCA2	86685782	1.000000	0.71417	0.871000	0.34182	0.075000	0.17131	6.295000	0.72744	2.653000	0.90120	0.655000	0.94253	GGG	.		0.438	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		T	86913194	G	T	86913194	3	4	1	1	0	0	0	0	1	0	0	0	3465	1348	47	3	1759	3	CLCA2	1	86913194	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	19125906	86913194	162337427	7	7											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					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.C1297R(2)		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)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																p.C1297R		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	PDE4DIP_ENST00000369356,NS,carcinoma,0,7	PDE4DIP_ENST00000369356	0	2	Substitution - Missense(2)	lung(2)	c.T3889C						.						46	49	48					1																	144879561		2203	4290	6493	SO:0001583	missense	9659	exon27			CCTCACACTCTGA	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.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg	60	2		92	6	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	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT	.		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144879561	A	G	144879561	3	3	1	1	0	0	0	0	1	0	0	0	11682	159	6	4	3223	4	PDE4DIP	1	144879561	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	57966367	144879561	104371060	8	8											
SV2A	9900	hgsc.bcm.edu	37	1	149879665	149879665	+	Silent	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:149879665G>T	ENST00000369146.3	-	9	1963	c.1473C>A	c.(1471-1473)cgC>cgA	p.R491R	SV2A_ENST00000369145.1_Silent_p.R491R	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	491					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATGCTCTACGCGCTCCCCGG	0.512																																					p.R491R		.											SV2A,colon,carcinoma,0,1	SV2A	0	0			c.C1473A						.						164	161	162					1																	149879665		2203	4300	6503	SO:0001819	synonymous_variant	9900	exon9			CTCTACGCGCTCC	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1473C>A	1.37:g.149879665G>T		32	0		41	2	NM_014849	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																			.		0.512	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			T	149879665	G	T	149879665	2	4	1	1	0	0	0	0	0	0	0	1	15464	1074	38	2		2	SV2A	1	149879665	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	5000104	149879665	99370956	9	9											
NES	10763	hgsc.bcm.edu	37	1	156642556	156642556	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:156642556G>T	ENST00000368223.3	-	4	1556	c.1424C>A	c.(1423-1425)tCc>tAc	p.S475Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	475	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)					CTCTAAACTGGAGTGGTCAGG	0.597																																					p.S475Y		.											NES,NS,haematopoietic_neoplasm,+1,1	NES	+1	0			c.C1424A						.						84	86	85					1																	156642556		2203	4300	6503	SO:0001583	missense	10763	exon4			AAACTGGAGTGGT	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.1424C>A	1.37:g.156642556G>T	ENSP00000357206:p.Ser475Tyr	49	0		39	3	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571598	0.45798	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86097	-2.07	5.17	0.318	0.15867	.	1.628260	0.04248	N	0.338068	T	0.65375	0.2685	L	0.47716	1.5	0.09310	N	1	P	0.35982	0.531	B	0.30646	0.118	T	0.60782	-0.7195	10	0.66056	D	0.02	.	6.4288	0.21784	0.094:0.0:0.4606:0.4453	.	475	P48681	NEST_HUMAN	Y	475	ENSP00000357206:S475Y	ENSP00000255024:S475Y	S	-	2	0	NES	154909180	0.000000	0.05858	0.006000	0.13384	0.842000	0.47809	0.060000	0.14342	0.503000	0.28060	0.467000	0.42956	TCC	.		0.597	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156642556	G	T	156642556	3	4	1	1	0	0	0	0	1	0	0	0	10376	1174	41	3	3445	3	NES	1	156642556	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	6762891	156642556	92608065	10	10											
C1orf92	149499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156901798	156901798	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:156901798C>T	ENST00000337428.7	+	13	1574	c.1420C>T	c.(1420-1422)Ctt>Ttt	p.L474F	ARHGEF11_ENST00000487682.1_5'Flank|LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	474										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GAACAAGGTCCTTTTGCACCT	0.572																																					p.L474F		.											.	.	.	0			c.C1420T						.						78	82	81					1																	156901798		2055	4188	6243	SO:0001583	missense	149499	exon13			AAGGTCCTTTTGC	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.1420C>T	1.37:g.156901798C>T	ENSP00000336661:p.Leu474Phe	52	0		76	8	NM_144702	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726647	0.89298	.	.	ENSG00000160838	ENST00000337428	T	0.80123	-1.34	5.68	5.68	0.88126	.	0.000000	0.45126	D	0.000384	D	0.87525	0.6199	M	0.70275	2.135	0.47441	D	0.999426	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88266	0.2926	10	0.72032	D	0.01	-12.4493	16.7107	0.85384	0.0:1.0:0.0:0.0	.	474;260	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	F	474	ENSP00000336661:L474F	ENSP00000336661:L474F	L	+	1	0	LRRC71	155168422	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.511000	0.67024	2.668000	0.90789	0.563000	0.77884	CTT	.		0.572	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		T	156901798	C	T	156901798	3	4	1	1	0	0	0	0	1	0	0	0	2076	681	24	3	1470	3	C1orf92	1	156901798	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	259242	156901798	92348823	11	11											
FCRLA	84824	hgsc.bcm.edu	37	1	161682007	161682007	+	Splice_Site	SNP	G	G	T	rs569112764		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:161682007G>T	ENST00000236938.6	+	4	1076	c.834G>T	c.(832-834)caG>caT	p.Q278H	FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000540521.1_Splice_Site_p.Q144H|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000546024.1_Splice_Site_p.Q189H|FCRLA_ENST00000367953.3_Splice_Site_p.Q267H|FCRLA_ENST00000294796.4_Splice_Site_p.Q127H|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367957.2_Splice_Site_p.Q138H|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Splice_Site_p.Q172H|FCRLA_ENST00000540926.1_Splice_Site_p.Q267H|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367959.2_Splice_Site_p.Q284H	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	261	Pro-rich.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.Q284H(1)|p.Q261H(1)		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)			TCAGAGTGCAGGGTGAGTTCG	0.527																																					p.Q284H		.											FCRLA_ENST00000367959,NS,carcinoma,0,2	FCRLA_ENST00000367959	0	2	Substitution - Missense(2)	lung(2)	c.G852T						.						69	67	68					1																	161682007		2203	4300	6503	SO:0001630	splice_region_variant	84824	exon5			AGTGCAGGGTGAG	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.835+1G>T	1.37:g.161682007G>T		12	0		22	2	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	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169710	0.38315	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.81	1.63	0.23807	.	0.410667	0.21013	N	0.081659	T	0.23532	0.0569	L	0.34521	1.04	0.31787	N	0.630172	B;B;B;B;B	0.24258	0.086;0.064;0.1;0.013;0.018	B;B;B;B;B	0.33196	0.159;0.052;0.034;0.005;0.067	T	0.07102	-1.0790	10	0.48119	T	0.1	.	2.3675	0.04323	0.1673:0.1395:0.528:0.1653	.	144;138;189;284;278	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	H	278;284;189;144;267;138;172;127;267	ENSP00000236938:Q278H;ENSP00000356936:Q284H;ENSP00000439838:Q189H;ENSP00000442870:Q144H;ENSP00000446380:Q267H;ENSP00000356934:Q138H;ENSP00000309596:Q172H;ENSP00000294796:Q127H;ENSP00000356930:Q267H	ENSP00000236938:Q278H	Q	+	3	2	FCRLA	159948631	0.996000	0.38824	0.999000	0.59377	0.938000	0.57974	0.131000	0.15870	0.312000	0.23038	0.591000	0.81541	CAG	.		0.527	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	Missense_Mutation	T	161682007	G	T	161682007	5	4	1	1	0	0	0	0	0	0	1	0	5822	1014	35	3	870	3	FCRLA	1	161682007	Splice_Site	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	4780209	161682007	87568614	12	12											
PRG4	10216	hgsc.bcm.edu	37	1	186276262	186276262	+	Missense_Mutation	SNP	A	A	C	rs572823944|rs554943190	byFrequency	TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:186276262A>C	ENST00000445192.2	+	7	1456	c.1411A>C	c.(1411-1413)Acc>Ccc	p.T471P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T430P|PRG4_ENST00000367485.4_Missense_Mutation_p.T378P|PRG4_ENST00000367486.3_Missense_Mutation_p.T428P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	471	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						TGCACCCACCACCAAGGAGCC	0.652														9	0.00179712	0.0038	0	5008	,	,		9353	0		0.002	False		,,,				2504	0.002				p.T471P		.											.,1	.	259	0			c.A1411C						.						86	94	92					1																	186276262		2203	4298	6501	SO:0001583	missense	10216	exon7			CCCACCACCAAGG	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.1411A>C	1.37:g.186276262A>C	ENSP00000399679:p.Thr471Pro	56	0		63	0	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	4.705	0.131095	0.08981	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05925	3.37;3.49;3.38;3.47	2.65	-5.29	0.02747	.	0.892392	0.09179	N	0.837745	T	0.03783	0.0107	L	0.33189	0.99	0.21762	N	0.999557	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	0.42632	-0.9440	9	.	.	.	-0.0017	3.2687	0.06874	0.5477:0.2197:0.1343:0.0983	.	337;378;471;430	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	428;337;430;378;471	ENSP00000356456:T428P;ENSP00000356453:T430P;ENSP00000356455:T378P;ENSP00000399679:T471P	.	T	+	1	0	PRG4	184542885	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.223000	0.17719	-1.906000	0.01089	0.092000	0.15492	ACC	.		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		C	186276262	A	C	186276262	3	2	1	1	0	0	0	0	1	0	0	0	12523	159	6	4	1433	4	PRG4	1	186276262	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	24594255	186276262	62974359	13	13											
PTPN14	5784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	214557314	214557314	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:214557314G>A	ENST00000366956.5	-	13	2078	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	628					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGTGGCCGTGAGGGGCTCGC	0.627																																					p.L628L	Colon(92;557 1424 24372 34121 40073)	.											.	.	.	0			c.C1884T						.						46	41	43					1																	214557314		2203	4300	6503	SO:0001819	synonymous_variant	5784	exon13			GGCCGTGAGGGGC	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1884C>T	1.37:g.214557314G>A		16	0		33	7	NM_005401	Q5VSI0	Silent	SNP	ENST00000366956.5	37	CCDS1514.1																																																																																			.		0.627	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		A	214557314	G	A	214557314	2	1	1	1	0	0	0	0	0	0	0	1	12826	1277	45	3		3	PTPN14	1	214557314	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	28281052	214557314	34693307	14	14											
TARBP1	6894	hgsc.bcm.edu	37	1	234569297	234569297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:234569297G>T	ENST00000040877.1	-	14	2252	c.2253C>A	c.(2251-2253)tgC>tgA	p.C751*		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	751					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)			GGTATAAATGGCAACGATCCA	0.393																																					p.C751X		.											.	.	.	0			c.C2253A						.						106	103	104					1																	234569297		2203	4300	6503	SO:0001587	stop_gained	6894	exon14			TAAATGGCAACGA		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.2253C>A	1.37:g.234569297G>T	ENSP00000040877:p.Cys751*	58	0		99	4	NM_005646	Q9H581	Nonsense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	38	6.817497	0.97861	.	.	ENSG00000059588	ENST00000040877	.	.	.	5.68	2.34	0.29019	.	0.102535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3545	6.9121	0.24340	0.4686:0.0:0.5314:0.0	.	.	.	.	X	751	.	ENSP00000040877:C751X	C	-	3	2	TARBP1	232635920	1.000000	0.71417	0.803000	0.32268	0.679000	0.39708	0.892000	0.28322	0.751000	0.32900	0.655000	0.94253	TGC	.		0.393	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234569297	G	T	234569297	4	4	1	1	0	0	0	0	0	1	0	0	15602	1195	42	3	2680	3	TARBP1	1	234569297	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	20011983	234569297	14681324	15	15											
OR2T12	127064	broad.mit.edu;bcgsc.ca	37	1	248458309	248458309	+	Missense_Mutation	SNP	G	G	A	rs138674715		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr1:248458309G>A	ENST00000317996.1	-	1	571	c.572C>T	c.(571-573)tCa>tTa	p.S191L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	191						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)			TTCGAAGACTGAAGTGTCAGC	0.537																																					p.S191L													.	OR2T12	113	0			c.C572T						.	G	LEU/SER	0,4402		0,0,2201	113	87	96		572	0.3	0.1	1	dbSNP_134	96	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR2T12	NM_001004692.1	145	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	191/321	248458309	1,12997	2201	4298	6499	SO:0001583	missense	127064	exon1			AAGACTGAAGTGT	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.572C>T	1.37:g.248458309G>A	ENSP00000324583:p.Ser191Leu	64	0		83	12	NM_001004692		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	9.564	1.119291	0.20877	0.0	1.16E-4	ENSG00000177201	ENST00000317996	T	0.00152	8.66	1.55	0.316	0.15857	GPCR, rhodopsin-like superfamily (1);	0.311562	0.17801	U	0.161576	T	0.00144	0.0004	L	0.45581	1.43	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.18555	-1.0333	10	0.37606	T	0.19	.	6.3399	0.21316	0.0:0.0:0.4592:0.5408	.	191	Q8NG77	O2T12_HUMAN	L	191	ENSP00000324583:S191L	ENSP00000324583:S191L	S	-	2	0	OR2T12	246524932	0.000000	0.05858	0.080000	0.20451	0.369000	0.29798	-3.982000	0.00320	0.645000	0.30675	0.175000	0.17021	TCA	G|1.000;A|0.000		0.537	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		A	248458309	G	A	248458309	3	1	1	1	0	0	0	0	1	0	0	0	11058	1294	45	3	393	3	OR2T12	1	248458309	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	13889012	248458309	792312	16	16											
GREB1	9687	hgsc.bcm.edu	37	2	11735403	11735403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:11735403G>T	ENST00000381486.2	+	12	2023	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*	GREB1_ENST00000234142.5_Nonsense_Mutation_p.E575*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	575						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)		gattctttccGAGAGCCTTCT	0.522																																					p.E575X	Ovarian(39;850 945 2785 23371 33093)	.											.	.	.	0			c.G1723T						.						53	55	54					2																	11735403		1823	4090	5913	SO:0001587	stop_gained	9687	exon12			CTTTCCGAGAGCC		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.1723G>T	2.37:g.11735403G>T	ENSP00000370896:p.Glu575*	57	0		99	4	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Nonsense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	g	41	8.866246	0.98982	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.282	17.782	0.88527	0.0:0.0:1.0:0.0	.	.	.	.	X	575;575;209	.	ENSP00000234142:E575X	E	+	1	0	GREB1	11652854	1.000000	0.71417	0.970000	0.41538	0.625000	0.37756	9.072000	0.93986	2.250000	0.74265	0.450000	0.29827	GAG	.		0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11735403	G	T	11735403	4	4	1	1	0	0	0	0	0	1	0	0	6787	1059	37	2	1873	2	GREB1	2	11735403	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		11735403	231463970	17	17											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	21246522	21246522	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:21246522G>T	ENST00000233242.1	-	17	2606	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	827					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L827V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTAGTGAAGAAAAAAGTCA	0.433																																					p.L827I		.											APOB,NS,carcinoma,0,1	APOB	0	1	Substitution - Missense(1)	cervix(1)	c.C2479A						.						80	74	76					2																	21246522		2203	4300	6503	SO:0001583	missense	338	exon17			AGTGAAGAAAAAA	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.2479C>A	2.37:g.21246522G>T	ENSP00000233242:p.Leu827Ile	64	0		84	10	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368844	0.61624	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14766	2.48	5.35	4.42	0.53409	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.125341	0.35235	N	0.003356	T	0.25121	0.0610	M	0.76574	2.34	0.80722	D	1	P	0.52842	0.956	P	0.48982	0.597	T	0.01401	-1.1364	10	0.40728	T	0.16	.	14.5927	0.68378	0.0:0.2318:0.7682:0.0	.	827	P04114	APOB_HUMAN	I	827	ENSP00000233242:L827I	ENSP00000233242:L827I	L	-	1	0	APOB	21100027	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	4.305000	0.59110	2.675000	0.91044	0.655000	0.94253	CTT	.		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21246522	G	T	21246522	3	4	1	1	0	0	0	0	1	0	0	0	785	942	33	3	11264	3	APOB	2	21246522	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	9511119	21246522	221952851	18	18											
KHK	3795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	27310211	27310211	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:27310211G>A	ENST00000260599.6	+	1	597	c.84G>A	c.(82-84)tcG>tcA	p.S28S	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Silent_p.S28S	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	28					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGGACTCGGAGATAAGGT	0.627																																					p.S28S		.											.	.	.	0			c.G84A						.						77	67	70					2																	27310211		2199	4299	6498	SO:0001819	synonymous_variant	3795	exon1			GGACTCGGAGATA		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.84G>A	2.37:g.27310211G>A		59	0		61	18	NM_006488	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Silent	SNP	ENST00000260599.6	37	CCDS1734.1																																																																																			.		0.627	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			A	27310211	G	A	27310211	2	1	1	1	0	0	0	0	0	0	0	1	8176	1103	39	1		1	KHK	2	27310211	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	6063689	27310211	215889162	19	19											
GALNT14	79623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	31168695	31168695	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:31168695G>A	ENST00000349752.5	-	7	1335	c.696C>T	c.(694-696)aaC>aaT	p.N232N	GALNT14_ENST00000420311.2_Silent_p.N197N|GALNT14_ENST00000406653.1_Silent_p.N212N|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.N237N|GALNT14_ENST00000356174.3_Silent_p.N199N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	232					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(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGGTGTCCAGGTTAATGATAT	0.542																																					p.N237N		.											.	.	.	0			c.C711T						.						106	84	92					2																	31168695		2203	4300	6503	SO:0001819	synonymous_variant	79623	exon8			GTCCAGGTTAATG	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.696C>T	2.37:g.31168695G>A		79	0		68	10	NM_001253826	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	CCDS1773.2																																																																																			.		0.542	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31168695	G	A	31168695	2	1	1	1	0	0	0	0	0	0	0	1	6237	1252	44	3		3	GALNT14	2	31168695	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	3858484	31168695	212030678	20	20											
TMEM178	130733	hgsc.bcm.edu	37	2	39944386	39944386	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:39944386G>T	ENST00000281961.2	+	4	945	c.889G>T	c.(889-891)Gta>Tta	p.V297L	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	297						integral component of membrane (GO:0016021)											AGACTCCACGGTATGACTGTC	0.532																																					p.V297L		.											TMEM178,NS,malignant_melanoma,0,1	TMEM178	0	0			c.G889T						.						89	82	85					2																	39944386		2203	4300	6503	SO:0001583	missense	130733	exon4			TCCACGGTATGAC	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.889G>T	2.37:g.39944386G>T	ENSP00000281961:p.Val297Leu	26	0		31	2	NM_152390	Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949897	0.92660	.	.	ENSG00000152154	ENST00000281961	T	0.50277	0.75	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.08118	0	0.80722	D	1	P	0.41929	0.765	B	0.38921	0.285	T	0.10497	-1.0627	9	.	.	.	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	297	Q8NBL3	TM178_HUMAN	L	297	ENSP00000281961:V297L	.	V	+	1	0	TMEM178	39797890	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.923000	0.87546	2.793000	0.96121	0.655000	0.94253	GTA	.		0.532	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		T	39944386	G	T	39944386	3	4	1	1	0	0	0	0	1	0	0	0	16142	1261	44	3	903	3	TMEM178	2	39944386	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	8775691	39944386	203254987	21	21											
SPTBN1	6711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	54858390	54858390	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:54858390G>T	ENST00000356805.4	+	16	3487	c.3206G>T	c.(3205-3207)cGg>cTg	p.R1069L	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R1056L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1069					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)			CAGTTCCTACGGGACTTGGAC	0.617																																					p.R1069L		.											.	.	.	0			c.G3206T						.						69	75	73					2																	54858390		2203	4300	6503	SO:0001583	missense	6711	exon16			TCCTACGGGACTT		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.3206G>T	2.37:g.54858390G>T	ENSP00000349259:p.Arg1069Leu	39	0		35	7	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160668	0.94727	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.54675	0.56;0.56	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.60845	1.875	0.80722	D	1	B;P	0.37997	0.194;0.614	B;B	0.42771	0.143;0.397	T	0.62459	-0.6850	10	0.72032	D	0.01	.	19.5375	0.95260	0.0:0.0:1.0:0.0	.	1056;1069	Q01082-3;Q01082	.;SPTB2_HUMAN	L	1069;1056	ENSP00000349259:R1069L;ENSP00000334156:R1056L	ENSP00000334156:R1056L	R	+	2	0	SPTBN1	54711894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.620000	0.88729	0.655000	0.94253	CGG	.		0.617	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54858390	G	T	54858390	3	4	1	1	0	0	0	0	1	0	0	0	15166	1116	39	2	3377	2	SPTBN1	2	54858390	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	14914004	54858390	188340983	22	22											
USP34	9736	broad.mit.edu	37	2	61484067	61484067	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:61484067G>T	ENST00000398571.2	-	47	6143	c.6067C>A	c.(6067-6069)Caa>Aaa	p.Q2023K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2023	USP.				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)			TCAGCAGTTTGACTAACATGT	0.249																																					p.Q2023K													.	USP34	334	0			c.C6067A						.						36	32	33					2																	61484067		1810	4067	5877	SO:0001583	missense	9736	exon47			CAGTTTGACTAAC	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.6067C>A	2.37:g.61484067G>T	ENSP00000381577:p.Gln2023Lys	125	0		148	4	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097983	0.56183	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.05081	3.5;3.5	5.93	5.93	0.95920	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.09468	0.0233	N	0.02120	-0.675	0.80722	D	1	B	0.31040	0.305	P	0.53185	0.72	T	0.61758	-0.6997	10	0.35671	T	0.21	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	2023	Q70CQ2	UBP34_HUMAN	K	1871;1871;2023;301	ENSP00000381577:Q2023K;ENSP00000410559:Q301K	ENSP00000263989:Q1871K	Q	-	1	0	USP34	61337571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.845000	0.99498	2.803000	0.96430	0.650000	0.86243	CAA	.		0.249	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61484067	G	T	61484067	3	4	1	1	0	0	0	0	1	0	0	0	17114	1299	45	3	4709	3	USP34	2	61484067	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	6625677	61484067	181715306	23	23											
AAK1	22848	hgsc.bcm.edu	37	2	69741753	69741753	+	Silent	SNP	C	C	T	rs66931661|rs3832159	byFrequency	TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:69741753C>T	ENST00000409085.4	-	13	2002	c.1626G>A	c.(1624-1626)caG>caA	p.Q542Q	AAK1_ENST00000409068.1_Silent_p.Q542Q|RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000406297.3_Silent_p.Q542Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	542	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						gttgctgttgctgttgttgtt	0.552																																					p.Q542Q		.											.	.	.	0			c.G1626A						.						33	35	34					2																	69741753		2192	4296	6488	SO:0001819	synonymous_variant	22848	exon13			CTGTTGCTGTTGT	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1626G>A	2.37:g.69741753C>T		40	0		41	4	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																			.		0.552	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		T	69741753	C	T	69741753	2	4	1	1	0	0	0	0	0	0	0	1	16	796	28	3		3	AAK1	2	69741753	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	8257686	69741753	173457620	24	24											
KYNU	8942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	143799625	143799625	+	Missense_Mutation	SNP	C	C	G	rs147475752		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:143799625C>G	ENST00000264170.4	+	14	1540	c.1282C>G	c.(1282-1284)Cgg>Ggg	p.R428G	KYNU_ENST00000409512.1_Missense_Mutation_p.R428G	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GTGTGACAAGCGGAATCCAAA	0.363																																					p.R428G		.											.	.	.	0			c.C1282G						.						130	128	129					2																	143799625		2203	4299	6502	SO:0001583	missense	8942	exon15			GACAAGCGGAATC	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1282C>G	2.37:g.143799625C>G	ENSP00000264170:p.Arg428Gly	86	0		107	20	NM_001199241		Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171828	0.38315	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.40225	1.04;1.04	5.09	-0.425	0.12317	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.124091	0.53938	D	0.000043	T	0.72614	0.3482	H	0.97158	3.95	0.50632	D	0.999881	D	0.89917	1.0	D	0.87578	0.998	T	0.79612	-0.1731	10	0.87932	D	0	.	13.296	0.60296	0.6938:0.3062:0.0:0.0	.	428	Q16719	KYNU_HUMAN	G	428	ENSP00000264170:R428G;ENSP00000386731:R428G	ENSP00000264170:R428G	R	+	1	2	KYNU	143516095	0.976000	0.34144	0.198000	0.23420	0.497000	0.33675	-0.121000	0.10643	-0.172000	0.10779	-0.188000	0.12872	CGG	.		0.363	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		G	143799625	C	G	143799625	3	3	1	1	0	0	0	0	1	0	0	0	8615	759	27	5	1358	5	KYNU	2	143799625	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	74057872	143799625	99399748	25	25											
SCN7A	6332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	167269613	167269613	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:167269613T>C	ENST00000409855.1	-	21	3559	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1145					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)	ATAATAGTGATCCATCCATTA	0.299																																					p.I1145V		.											.	.	.	0			c.A3433G						.						42	39	40					2																	167269613		1811	4059	5870	SO:0001583	missense	6332	exon21			TAGTGATCCATCC	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.3433A>G	2.37:g.167269613T>C	ENSP00000386796:p.Ile1145Val	84	0		94	11	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336864	0.24253	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97328	-4.34	5.22	2.63	0.31362	Ion transport (1);	0.141043	0.42294	D	0.000722	D	0.91838	0.7417	N	0.16567	0.415	0.32640	N	0.520829	B	0.34103	0.437	B	0.36885	0.235	D	0.91494	0.5214	10	0.87932	D	0	.	6.2746	0.20973	0.1511:0.0:0.1877:0.6612	.	1145	Q01118	SCN7A_HUMAN	V	1145	ENSP00000386796:I1145V	ENSP00000259060:I1145V	I	-	1	0	SCN7A	166977859	1.000000	0.71417	0.980000	0.43619	0.357000	0.29423	1.696000	0.37773	0.935000	0.37341	0.533000	0.62120	ATC	.		0.299	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			C	167269613	T	C	167269613	3	2	1	1	0	0	0	0	1	0	0	0	13968	1435	50	4	1635	4	SCN7A	2	167269613	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	23469988	167269613	75929760	26	26											
XIRP2	129446	hgsc.bcm.edu	37	2	168104887	168104887	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:168104887C>T	ENST00000409195.1	+	9	7074	c.6985C>T	c.(6985-6987)Ctg>Ttg	p.L2329L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2329L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2107L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2154					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						TCTTCCCTCACTGTCCACAGA	0.428																																					p.L2329L		.											.	.	.	0			c.C6985T						.						140	138	139					2																	168104887		1884	4108	5992	SO:0001819	synonymous_variant	129446	exon9			CCCTCACTGTCCA	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.6985C>T	2.37:g.168104887C>T		51	0		93	4	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																																																																																			.		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168104887	C	T	168104887	2	4	1	1	0	0	0	0	0	0	0	1	17479	564	20	3		3	XIRP2	2	168104887	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	835274	168104887	75094486	27	27											
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	168115754	168115754	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:168115754G>C	ENST00000409728.1	+	11	2886	c.2797G>C	c.(2797-2799)Gat>Cat	p.D933H	XIRP2_ENST00000409043.1_Missense_Mutation_p.D900H|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.D933H|XIRP2_ENST00000409605.1_Missense_Mutation_p.D678H|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.D900H	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						CACAGGTTTTGATGCTCTGAG	0.428																																					p.D933H		.											.	.	.	0			c.G2797C						.						92	85	87					2																	168115754		1910	4137	6047	SO:0001583	missense	129446	exon11			GGTTTTGATGCTC	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.2797G>C	2.37:g.168115754G>C	ENSP00000386619:p.Asp933His	58	0		56	8	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	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734796	0.48939	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80994	-1.41;-1.41;-1.41;-1.41;-1.44	5.91	3.07	0.35406	.	.	.	.	.	T	0.73418	0.3584	.	.	.	0.20975	N	0.999811	B;B	0.24368	0.102;0.102	B;B	0.24155	0.051;0.051	T	0.62210	-0.6902	8	0.52906	T	0.07	.	11.4688	0.50254	0.0:0.279:0.5926:0.1284	.	900;933	A4UGR9-4;A4UGR9-6	.;.	H	900;933;900;933;678	ENSP00000386454:D900H;ENSP00000386619:D933H;ENSP00000386724:D900H;ENSP00000415541:D933H;ENSP00000386981:D678H	ENSP00000386454:D900H	D	+	1	0	XIRP2	167824000	0.026000	0.19158	0.016000	0.15963	0.013000	0.08279	1.533000	0.36040	0.352000	0.24053	-0.188000	0.12872	GAT	.		0.428	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		C	168115754	G	C	168115754	3	2	1	1	0	0	0	0	1	0	0	0	17479	1290	45	5	12115	5	XIRP2	2	168115754	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	10867	168115754	75083619	28	28											
DFNB59	494513	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	179318221	179318221	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:179318221G>A	ENST00000409117.3	+	2	441	c.85G>A	c.(85-87)Gac>Aac	p.D29N	PRKRA_ENST00000470200.1_5'Flank|DFNB59_ENST00000375129.4_Missense_Mutation_p.D29N|PRKRA_ENST00000325748.4_5'Flank|PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000487082.1_5'Flank|PRKRA_ENST00000438687.3_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	29					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CAGTGAAGCTGACAAATATCA	0.378																																					p.D29N		.											.	.	.	0			c.G85A						.						126	113	117					2																	179318221		1858	4110	5968	SO:0001583	missense	494513	exon2			GAAGCTGACAAAT	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.85G>A	2.37:g.179318221G>A	ENSP00000386647:p.Asp29Asn	68	0		94	5	NM_001042702	A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448543	0.96205	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.26518	1.73;1.73	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.28744	-1.0034	10	0.49607	T	0.09	-13.0937	20.6397	0.99537	0.0:0.0:1.0:0.0	.	29	Q0ZLH3	PJVK_HUMAN	N	29	ENSP00000386647:D29N;ENSP00000364271:D29N	ENSP00000364271:D29N	D	+	1	0	DFNB59	179026467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GAC	.		0.378	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			A	179318221	G	A	179318221	3	1	1	1	0	0	0	0	1	0	0	0	4470	1290	45	3	87	3	DFNB59	2	179318221	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	11202467	179318221	63881152	29	29											
FAM126B	285172	broad.mit.edu	37	2	201846200	201846200	+	Silent	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:201846200G>T	ENST00000418596.3	-	12	1573	c.1386C>A	c.(1384-1386)ggC>ggA	p.G462G	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	462						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TTGCTTGACTGCCATTTACAT	0.473																																					p.G462G													.	FAM126B	34	0			c.C1386A						.						108	86	94					2																	201846200		2203	4300	6503	SO:0001819	synonymous_variant	285172	exon12			TTGACTGCCATTT	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1386C>A	2.37:g.201846200G>T		44	1		52	3	NM_173822	B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	CCDS2335.1																																																																																			.		0.473	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		T	201846200	G	T	201846200	2	4	1	1	0	0	0	0	0	0	0	1	5449	1306	46	3		3	FAM126B	2	201846200	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	22527979	201846200	41353173	30	30											
CDK15	65061	hgsc.bcm.edu;bcgsc.ca	37	2	202672307	202672307	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:202672307A>G	ENST00000374598.4	+	2	214	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	CDK15_ENST00000434439.1_Missense_Mutation_p.R72G|CDK15_ENST00000410091.3_Missense_Mutation_p.R21G|Y_RNA_ENST00000365267.1_RNA|CDK15_ENST00000450471.2_Missense_Mutation_p.R72G|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.R21G			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	72							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CAAGAGTAAAAGGCCACGGAG	0.453																																					p.R72G		.											.	.	.	0			c.A214G						.						128	133	131					2																	202672307		2203	4300	6503	SO:0001583	missense	65061	exon2			AGTAAAAGGCCAC	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.214A>G	2.37:g.202672307A>G	ENSP00000363726:p.Arg72Gly	59	0		79	4	NM_001261435	A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37		.	.	.	.	.	.	.	.	.	.	A	14.14	2.445702	0.43429	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.70516	-0.48;-0.48;-0.49;-0.47;-0.48	5.65	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.17082	0.46	0.53688	D	0.99997	B;B	0.24768	0.111;0.111	B;B	0.22753	0.041;0.041	T	0.54159	-0.8335	10	0.49607	T	0.09	-15.5437	10.0352	0.42125	0.9207:0.0:0.0793:0.0	.	72;72	Q96Q40-2;F8W6H8	.;.	G	21;21;72;72;72	ENSP00000386901:R21G;ENSP00000260967:R21G;ENSP00000406472:R72G;ENSP00000412775:R72G;ENSP00000363726:R72G	ENSP00000260967:R21G	R	+	1	2	CDK15	202380552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.607000	0.46300	2.169000	0.68431	0.528000	0.53228	AGG	.		0.453	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			G	202672307	A	G	202672307	3	3	1	1	0	0	0	0	1	0	0	0	3138	63	3	4	63	4	CDK15	2	202672307	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	826107	202672307	40527066	31	31											
ABCA12	26154	bcgsc.ca	37	2	215851337	215851337	+	Silent	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:215851337G>T	ENST00000272895.7	-	28	4311	c.4092C>A	c.(4090-4092)ctC>ctA	p.L1364L	ABCA12_ENST00000389661.4_Silent_p.L1046L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1364	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)	p.L1364L(1)		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)		AGTTCAGATTGAGGTTATCAA	0.428																																					p.L1364L	Ovarian(66;664 1488 5121 34295)												ABCA12,NS,carcinoma,0,1	ABCA12	368	1	Substitution - coding silent(1)	lung(1)	c.C4092A						.						89	84	86					2																	215851337		2203	4300	6503	SO:0001819	synonymous_variant	26154	exon28			CAGATTGAGGTTA	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.4092C>A	2.37:g.215851337G>T		63	0		72	4	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																			.		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		T	215851337	G	T	215851337	2	4	1	1	0	0	0	0	0	0	0	1	30	1277	45	3		3	ABCA12	2	215851337	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	13179030	215851337	27348036	32	32											
CXCR1	3577	hgsc.bcm.edu	37	2	219029811	219029811	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:219029811C>T	ENST00000295683.2	-	2	244	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	42					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GCGATGATCACAACATACTTG	0.498																																					p.V42M		.											CXCR1,NS,carcinoma,0,1	CXCR1	0	0			c.G124A						.						212	196	202					2																	219029811		2203	4300	6503	SO:0001583	missense	3577	exon2			TGATCACAACATA	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.124G>A	2.37:g.219029811C>T	ENSP00000295683:p.Val42Met	24	0		29	2	NM_000634	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049664	0.55218	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38560	1.13	5.35	2.29	0.28610	.	0.364382	0.26951	N	0.021674	T	0.38108	0.1028	L	0.54323	1.7	0.09310	N	0.999999	B	0.32731	0.382	B	0.35607	0.206	T	0.34925	-0.9809	10	0.72032	D	0.01	.	9.4029	0.38444	0.151:0.5563:0.2927:0.0	.	42	P25024	CXCR1_HUMAN	M	42	ENSP00000295683:V42M	ENSP00000295683:V42M	V	-	1	0	CXCR1	218738056	0.002000	0.14202	0.005000	0.12908	0.007000	0.05969	-0.027000	0.12371	0.585000	0.29608	0.655000	0.94253	GTG	.		0.498	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		T	219029811	C	T	219029811	3	4	1	1	0	0	0	0	1	0	0	0	4099	478	17	3	932	3	CXCR1	2	219029811	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	3178474	219029811	24169562	33	33											
SLC19A3	80704	hgsc.bcm.edu	37	2	228564115	228564115	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr2:228564115T>C	ENST00000258403.3	-	3	387	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	106					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)	p.M106V(1)		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)	ACAACCTGCATGGTCTTCACT	0.527																																					p.M106V		.											SLC19A3,NS,carcinoma,0,1	SLC19A3	0	1	Substitution - Missense(1)	lung(1)	c.A316G						.						122	121	122					2																	228564115		2203	4300	6503	SO:0001583	missense	80704	exon3			CCTGCATGGTCTT	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.316A>G	2.37:g.228564115T>C	ENSP00000258403:p.Met106Val	41	0		58	4	NM_025243		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758319	0.89843	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	T;T;T	0.80480	-1.38;-1.38;0.37	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);	0.068694	0.85682	D	0.000000	D	0.89546	0.6746	M	0.92555	3.32	0.80722	D	1	P;P	0.46395	0.743;0.877	P;P	0.51742	0.547;0.678	D	0.90947	0.4802	10	0.49607	T	0.09	-50.9321	16.3351	0.83056	0.0:0.0:0.0:1.0	.	102;106	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	106;102;106	ENSP00000258403:M106V;ENSP00000445519:M102V;ENSP00000399001:M106V	ENSP00000258403:M106V	M	-	1	0	SLC19A3	228272359	1.000000	0.71417	0.975000	0.42487	0.948000	0.59901	7.882000	0.87258	2.262000	0.75019	0.528000	0.53228	ATG	.		0.527	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			C	228564115	T	C	228564115	3	2	1	1	0	0	0	0	1	0	0	0	14475	1464	51	4	1190	4	SLC19A3	2	228564115	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	9534304	228564115	14635258	34	34											
ANKRD28	23243	bcgsc.ca	37	3	15749477	15749477	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr3:15749477C>A	ENST00000399451.2	-	14	1778	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	ANKRD28_ENST00000383777.1_Missense_Mutation_p.G504C|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	471						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GGTGTGCAGCCTCTTTCATCA	0.473																																					p.G471C													.	ANKRD28	121	0			c.G1411T						.						102	97	98					3																	15749477		2052	4205	6257	SO:0001583	missense	23243	exon14			TGCAGCCTCTTTC	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.1411G>T	3.37:g.15749477C>A	ENSP00000382379:p.Gly471Cys	29	0		31	4	NM_015199	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289196	0.80914	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	D;D;D	0.86366	-2.11;-2.11;-2.11	6.07	5.2	0.72013	Ankyrin repeat-containing domain (3);	0.043967	0.85682	D	0.000000	D	0.95433	0.8517	H	0.95504	3.68	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	D	0.96611	0.9452	10	0.72032	D	0.01	.	15.145	0.72643	0.0:0.9329:0.0:0.0671	.	504;501;471	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	C	471;504;471	ENSP00000382379:G471C;ENSP00000373287:G504C;ENSP00000397341:G471C	ENSP00000373287:G504C	G	-	1	0	ANKRD28	15724481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.959000	0.70339	1.582000	0.49881	0.655000	0.94253	GGC	.		0.473	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		A	15749477	C	A	15749477	3	1	1	1	0	0	0	0	1	0	0	0	656	681	24	3	1810	3	ANKRD28	3	15749477	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09		15749477	182272953	35	35											
TLR9	54106	bcgsc.ca	37	3	52255277	52255277	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr3:52255277G>T	ENST00000360658.2	-	2	3688	c.3055C>A	c.(3055-3057)Cac>Aac	p.H1019N	TLR9_ENST00000494383.1_Missense_Mutation_p.P1172Q|TLR9_ENST00000597542.1_Missense_Mutation_p.H1043N	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	1019					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 toll-like receptor signaling pathway (GO:0034122)|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-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 JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|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)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|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)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTATAGAAGTGGTGGTTGTCC	0.657																																					p.H1019N													.	TLR9	72	0			c.C3055A						.						85	92	90					3																	52255277		2203	4300	6503	SO:0001583	missense	54106	exon2			AGAAGTGGTGGTT	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.3055C>A	3.37:g.52255277G>T	ENSP00000353874:p.His1019Asn	36	0		23	4	NM_017442	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.567125|2.567125	0.45694|0.45694	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.26373|.	1.74|.	4.87|4.87	3.92|3.92	0.45320|0.45320	.|.	0.165249|.	0.28877|.	N|.	0.013859|.	T|T	0.44477|0.44477	0.1295|0.1295	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;P|.	0.50443|.	0.118;0.935|.	B;P|.	0.44597|.	0.037;0.454|.	T|T	0.26677|0.26677	-1.0096|-1.0096	10|5	0.22109|.	T|.	0.4|.	.|.	12.1132|12.1132	0.53850|0.53850	0.0:0.0:0.818:0.182|0.0:0.0:0.818:0.182	.|.	1116;1019|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	N|Q	1019|1172	ENSP00000353874:H1019N|.	ENSP00000353874:H1019N|.	H|P	-|-	1|2	0|0	TLR9|RP11-330H6.5	52230317|52230317	0.936000|0.936000	0.31750|0.31750	0.975000|0.975000	0.42487|0.42487	0.906000|0.906000	0.53458|0.53458	3.428000|3.428000	0.52792|0.52792	2.532000|2.532000	0.85374|0.85374	0.467000|0.467000	0.42956|0.42956	CAC|CCA	.		0.657	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			T	52255277	G	T	52255277	3	4	1	1	0	0	0	0	1	0	0	0	16005	1348	47	3	47	3	TLR9	3	52255277	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	36505800	52255277	145767153	36	36											
FLNB	2317	hgsc.bcm.edu;bcgsc.ca	37	3	58095323	58095323	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr3:58095323C>T	ENST00000295956.4	+	15	2385	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	FLNB_ENST00000419752.2_Silent_p.S571S|FLNB_ENST00000358537.3_Silent_p.S740S|FLNB_ENST00000357272.4_Silent_p.S740S|FLNB_ENST00000348383.5_Silent_p.S740S|FLNB_ENST00000429972.2_Silent_p.S740S|FLNB_ENST00000490882.1_Silent_p.S740S|FLNB_ENST00000493452.1_Silent_p.S571S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	740					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)		GGCAAGGTAGCCATCCTCAGA	0.468																																					p.S740S		.											.	.	.	0			c.C2220T						.						123	121	122					3																	58095323		2203	4300	6503	SO:0001819	synonymous_variant	2317	exon15			AGGTAGCCATCCT	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.2220C>T	3.37:g.58095323C>T		80	0		78	5	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																																																																																			.		0.468	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		T	58095323	C	T	58095323	2	4	1	1	0	0	0	0	0	0	0	1	5956	738	26	3		3	FLNB	3	58095323	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	5840046	58095323	139927107	37	37											
CLDN16	10686	hgsc.bcm.edu	37	3	190106072	190106072	+	Missense_Mutation	SNP	G	G	A	rs386669518|rs201380153|rs56086318|rs368234054	byFrequency	TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr3:190106072G>A	ENST00000264734.2	+	1	412	c.164G>A	c.(163-165)aGg>aAg	p.R55K	CLDN16_ENST00000456423.1_Missense_Mutation_p.R55K|CLDN16_ENST00000468220.1_Intron	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																																					p.R55K		.											.,1	.	59	0			c.G164A						.						145	107	120					3																	190106072		2203	4291	6494	SO:0001583	missense	10686	exon1			GGGCCAGGGCTGG	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.164G>A	3.37:g.190106072G>A	ENSP00000264734:p.Arg55Lys	24	0		38	5	NM_006580		Missense_Mutation	SNP	ENST00000264734.2	37	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.478634	0.01035	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.92965	-2.78;-3.14	5.61	1.57	0.23409	.	1.365350	0.04318	N	0.350134	D	0.84561	0.5499	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.12156	0.007;0.001	T	0.69712	-0.5071	10	0.15066	T	0.55	-18.8536	6.6557	0.22986	0.1665:0.3355:0.498:0.0	.	55;55	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	K	55	ENSP00000264734:R55K;ENSP00000414136:R55K	ENSP00000264734:R55K	R	+	2	0	CLDN16	191588766	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.492000	0.22435	0.324000	0.23333	0.460000	0.39030	AGG	.		0.512	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		A	190106072	G	A	190106072	3	1	1	1	0	0	0	0	1	0	0	0	3484	1000	35	3	166	3	CLDN16	3	190106072	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	132010749	190106072	7916358	38	38											
FAM193A	8603	hgsc.bcm.edu	37	4	2698243	2698243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:2698243C>T	ENST00000324666.5	+	16	2908	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	FAM193A_ENST00000505311.1_Nonsense_Mutation_p.Q853*|FAM193A_ENST00000382839.3_Nonsense_Mutation_p.Q853*|FAM193A_ENST00000545951.1_Nonsense_Mutation_p.Q853*|FAM193A_ENST00000502458.1_Nonsense_Mutation_p.Q875*	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	853								p.Q853*(1)		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						GGATTTGTTGCAGTTTATAAA	0.498																																					p.Q875X		.											FAM193A,NS,NS,0,1	FAM193A	0	1	Substitution - Nonsense(1)	NS(1)	c.C2623T						.						115	108	110					4																	2698243		2203	4300	6503	SO:0001587	stop_gained	8603	exon17			TTGTTGCAGTTTA	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.2557C>T	4.37:g.2698243C>T	ENSP00000324587:p.Gln853*	70	0		80	4	NM_001256667	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Nonsense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	44	11.122394	0.99518	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-21.6609	17.8501	0.88744	0.0:1.0:0.0:0.0	.	.	.	.	X	853;853;853;875;707	.	ENSP00000324587:Q853X	Q	+	1	0	FAM193A	2668041	1.000000	0.71417	0.963000	0.40424	0.951000	0.60555	5.757000	0.68766	2.464000	0.83262	0.603000	0.83216	CAG	.		0.498	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		T	2698243	C	T	2698243	4	4	1	1	0	0	0	0	0	1	0	0	5543	711	25	3	2611	3	FAM193A	4	2698243	Nonsense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09		2698243	188456033	39	39											
HTT	3064	hgsc.bcm.edu;bcgsc.ca	37	4	3213728	3213728	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:3213728G>T	ENST00000355072.5	+	48	6632	c.6487G>T	c.(6487-6489)Gcc>Tcc	p.A2163S		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2163					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)		CCAGAAGAGTGCCCTTTTTGA	0.542																																					p.A2163S		.											.	.	.	0			c.G6487T						.						80	84	83					4																	3213728		1965	4168	6133	SO:0001583	missense	3064	exon48			AAGAGTGCCCTTT	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.6487G>T	4.37:g.3213728G>T	ENSP00000347184:p.Ala2163Ser	54	0		56	4	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	6.953	0.545719	0.13312	.	.	ENSG00000197386	ENST00000355072	T	0.05081	3.5	5.73	1.73	0.24493	.	0.579744	0.18754	N	0.132091	T	0.01765	0.0056	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46762	-0.9168	10	0.07325	T	0.83	.	3.8433	0.08923	0.2016:0.3584:0.3561:0.0839	.	2163	P42858	HD_HUMAN	S	2163	ENSP00000347184:A2163S	ENSP00000347184:A2163S	A	+	1	0	HTT	3183526	0.001000	0.12720	0.283000	0.24790	0.786000	0.44442	1.384000	0.34396	0.743000	0.32719	-0.128000	0.14901	GCC	.		0.542	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3213728	G	T	3213728	3	4	1	1	0	0	0	0	1	0	0	0	7484	1319	46	3	6677	3	HTT	4	3213728	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	515485	3213728	187940548	40	40											
CLNK	116449	hgsc.bcm.edu;bcgsc.ca	37	4	10560060	10560060	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:10560060G>T	ENST00000226951.6	-	8	655	c.416C>A	c.(415-417)tCc>tAc	p.S139Y	CLNK_ENST00000507719.1_Missense_Mutation_p.S97Y|CLNK_ENST00000442825.2_Missense_Mutation_p.S97Y	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	139					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GACGTCCTTGGAAATGGGTTT	0.383																																					p.S139Y	GBM(87;402 1286 6949 13902 35851)	.											.	.	.	0			c.C416A						.						215	202	206					4																	10560060		1918	4135	6053	SO:0001583	missense	116449	exon8			TCCTTGGAAATGG	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.416C>A	4.37:g.10560060G>T	ENSP00000226951:p.Ser139Tyr	82	0		91	4	NM_052964	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	G	9.336	1.061874	0.19987	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.48522	1.8;0.81;0.81	4.53	2.75	0.32379	.	2.803700	0.01019	N	0.003945	T	0.52789	0.1756	L	0.32530	0.975	0.09310	N	1	D;P	0.53462	0.96;0.785	P;B	0.55303	0.773;0.275	T	0.40289	-0.9571	10	0.59425	D	0.04	-10.0761	6.7454	0.23458	0.2141:0.0:0.7859:0.0	.	97;139	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	Y	139;139;97;97	ENSP00000226951:S139Y;ENSP00000390744:S97Y;ENSP00000427208:S97Y	ENSP00000226951:S139Y	S	-	2	0	CLNK	10169158	0.036000	0.19791	0.300000	0.25030	0.451000	0.32288	0.454000	0.21827	1.222000	0.43521	0.551000	0.68910	TCC	.		0.383	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		T	10560060	G	T	10560060	3	4	1	1	0	0	0	0	1	0	0	0	3554	1174	41	3	918	3	CLNK	4	10560060	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	7346332	10560060	180594216	41	41											
N4BP2	55728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	40122733	40122733	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:40122733A>G	ENST00000261435.6	+	9	3418	c.3002A>G	c.(3001-3003)cAa>cGa	p.Q1001R		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1001					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						TGTCAAGAGCAAATGCCTAAG	0.413																																					p.Q1001R		.											.	.	.	0			c.A3002G						.						66	64	65					4																	40122733		2203	4300	6503	SO:0001583	missense	55728	exon9			AAGAGCAAATGCC	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.3002A>G	4.37:g.40122733A>G	ENSP00000261435:p.Gln1001Arg	55	0		52	11	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	0.766	-0.767688	0.02974	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.17370	2.28	6.02	-5.0	0.03001	.	1.364070	0.04241	N	0.336989	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B;B	0.19817	0.039;0.023	B;B	0.18871	0.023;0.01	T	0.29792	-1.0000	10	0.21540	T	0.41	0.2271	4.1072	0.10041	0.4946:0.2774:0.1345:0.0934	.	1001;1001	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	R	1001;921	ENSP00000261435:Q1001R	ENSP00000261435:Q1001R	Q	+	2	0	N4BP2	39799128	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.212000	0.09319	-1.021000	0.03350	-0.177000	0.13119	CAA	.		0.413	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		G	40122733	A	G	40122733	3	3	1	1	0	0	0	0	1	0	0	0	10148	130	5	4	3028	4	N4BP2	4	40122733	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	29562673	40122733	151031543	42	42											
ARHGEF38	54848	hgsc.bcm.edu;broad.mit.edu	37	4	106552107	106552107	+	Nonsense_Mutation	SNP	C	C	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:106552107C>G	ENST00000420470.2	+	4	705	c.561C>G	c.(559-561)taC>taG	p.Y187*	ARHGEF38_ENST00000265154.2_Nonsense_Mutation_p.Y187*	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	187	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						ATAAAATCTACTGCTATCACC	0.383																																					p.Y187X		.											.	.	.	0			c.C561G						.						120	114	116					4																	106552107		2203	4300	6503	SO:0001587	stop_gained	54848	exon4			AATCTACTGCTAT	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"Rho guanine nucleotide exchange factors"	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.561C>G	4.37:g.106552107C>G	ENSP00000416125:p.Tyr187*	43	0		50	5	NM_001242729	C9JIB4	Nonsense_Mutation	SNP	ENST00000420470.2	37	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745906	0.89663	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	.	.	.	4.92	4.06	0.47325	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6034	11.7701	0.51953	0.0:0.8498:0.0:0.1502	.	.	.	.	X	187	.	ENSP00000265154:Y187X	Y	+	3	2	ARHGEF38	106771556	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	0.664000	0.25068	1.036000	0.39998	0.591000	0.81541	TAC	.		0.383	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		G	106552107	C	G	106552107	4	3	1	1	0	0	0	0	0	1	0	0	907	576	20	5	575	5	ARHGEF38	4	106552107	Nonsense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	66429374	106552107	84602169	43	43											
LARP1B	55132	broad.mit.edu	37	4	129121738	129121738	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:129121738T>C	ENST00000326639.6	+	17	2438	c.2227T>C	c.(2227-2229)Ttt>Ctt	p.F743L	LARP1B_ENST00000441387.1_Missense_Mutation_p.F743L|LARP1B_ENST00000354456.3_Missense_Mutation_p.F162L|LARP1B_ENST00000264584.5_Missense_Mutation_p.F684L|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	743						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						TTTCTGGTCCTTTTTCCTCAG	0.308																																					p.F743L													.	LARP1B	120	0			c.T2227C						.						40	40	40					4																	129121738		2202	4299	6501	SO:0001583	missense	55132	exon17			TGGTCCTTTTTCC		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.2227T>C	4.37:g.129121738T>C	ENSP00000321997:p.Phe743Leu	278	0		300	6	NM_018078	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092258	0.76756	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000441387;ENST00000354456	T;T;T;T	0.28069	1.63;1.63;1.69;1.63	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.88450	2.955	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70182	-0.4942	10	0.72032	D	0.01	.	14.4138	0.67135	0.0:0.0:0.0:1.0	.	162;743	Q659C4-5;Q659C4	.;LAR1B_HUMAN	L	743;684;743;162	ENSP00000321997:F743L;ENSP00000264584:F684L;ENSP00000396521:F743L;ENSP00000346444:F162L	ENSP00000264584:F684L	F	+	1	0	LARP1B	129341188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.506000	0.81665	1.999000	0.58509	0.459000	0.35465	TTT	.		0.308	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		C	129121738	T	C	129121738	3	2	1	1	0	0	0	0	1	0	0	0	8657	1609	56	4	2419	4	LARP1B	4	129121738	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	22569631	129121738	62032538	44	44											
ADAM29	11086	bcgsc.ca	37	4	175898005	175898005	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:175898005C>T	ENST00000359240.3	+	5	1999	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	ADAM29_ENST00000404450.4_Silent_p.C443C|ADAM29_ENST00000445694.1_Silent_p.C443C|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.C443C	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	443	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)		GGCTTTGTTGCAAAGACTGCA	0.453																																					p.C443C	Ovarian(140;1727 1835 21805 25838 41440)												.	ADAM29	262	0			c.C1329T						.						154	142	146					4																	175898005		2203	4300	6503	SO:0001819	synonymous_variant	11086	exon4			TTGTTGCAAAGAC	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.1329C>T	4.37:g.175898005C>T		39	0		50	4	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																			.		0.453	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175898005	C	T	175898005	2	4	1	1	0	0	0	0	0	0	0	1	247	718	25	3		3	ADAM29	4	175898005	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	46776267	175898005	15256271	45	45											
MLF1IP	79682	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	185638302	185638302	+	Silent	SNP	A	A	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr4:185638302A>T	ENST00000281453.5	-	5	439	c.369T>A	c.(367-369)atT>atA	p.I123I	MLF1IP_ENST00000541971.1_Silent_p.I123I	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TTTTTGCACTAATTTTTACAG	0.299																																					p.I123I		.											.	.	.	0			c.T369A						.						109	104	105					4																	185638302		2203	4299	6502	SO:0001819	synonymous_variant	79682	exon5			TGCACTAATTTTT																												ENST00000281453.5:c.369T>A	4.37:g.185638302A>T		46	0		48	4	NM_024629		Silent	SNP	ENST00000281453.5	37	CCDS3838.1																																																																																			.		0.299	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2			T	185638302	A	T	185638302	2	4	1	1	0	0	0	0	0	0	0	1	9653	358	13	5		5	MLF1IP	4	185638302	Silent	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	9740297	185638302	5515974	46	46											
ZDHHC11	79844	broad.mit.edu	37	5	825360	825360	+	Silent	SNP	T	T	C	rs201174878		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						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)			AGCTCTTGGCTTTGACTCTGG	0.552																																					p.K314K													.	ZDHHC11	97	0			c.A942G						.						168	117	134					5																	825360		2203	4296	6499	SO:0001819	synonymous_variant	79844	exon8			CTTGGCTTTGACT	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.942A>G	5.37:g.825360T>C		48	1		47	4	NM_024786	Q6UWR9	Silent	SNP	ENST00000283441.8	37	CCDS3857.1																																																																																			T|0.999;C|0.001		0.552	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		C	825360	T	C	825360	2	2	1	1	0	0	0	0	0	0	0	1	17649	1606	56	4		4	ZDHHC11	5	825360	Silent	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09		825360	180089900	47	47											
SLC6A18	348932	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	1232354	1232354	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:1232354G>A	ENST00000324642.3	+	2	304	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	SLC6A18_ENST00000296821.4_Missense_Mutation_p.V61I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	61					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)			CATCCCCTACGTCATCGCGCT	0.701																																					p.V61I		.											SLC6A18,NS,carcinoma,0,1	SLC6A18	0	0			c.G181A						.						46	46	46					5																	1232354		2203	4300	6503	SO:0001583	missense	348932	exon2			CCCTACGTCATCG	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.181G>A	5.37:g.1232354G>A	ENSP00000323549:p.Val61Ile	46	0		53	4	NM_182632		Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	4.320	0.058715	0.08339	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.73789	-0.78;-0.78	5.45	-10.9	0.00192	.	0.787886	0.11888	N	0.519895	T	0.39358	0.1075	N	0.04805	-0.155	0.09310	N	1	B	0.21753	0.06	B	0.17722	0.019	T	0.25047	-1.0143	10	0.20046	T	0.44	.	4.6951	0.12800	0.0715:0.2539:0.347:0.3276	.	61	Q96N87	S6A18_HUMAN	I	61	ENSP00000323549:V61I;ENSP00000296821:V61I	ENSP00000296821:V61I	V	+	1	0	SLC6A18	1285354	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-1.172000	0.03112	-4.056000	0.00078	-1.961000	0.00478	GTC	.		0.701	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		A	1232354	G	A	1232354	3	1	1	1	0	0	0	0	1	0	0	0	14726	1145	40	1	187	1	SLC6A18	5	1232354	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	406994	1232354	179682906	48	48											
TRIO	7204	broad.mit.edu	37	5	14399006	14399006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:14399006G>T	ENST00000344204.4	+	30	4465	c.4441G>T	c.(4441-4443)Gag>Tag	p.E1481*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.E1432*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.E1481*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1481	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					TGAAAACATTGAGTCTCAGGG	0.363																																					p.E1481X													.	TRIO	305	0			c.G4441T						.						100	103	102					5																	14399006		2203	4300	6503	SO:0001587	stop_gained	7204	exon30			AACATTGAGTCTC	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.4441G>T	5.37:g.14399006G>T	ENSP00000339299:p.Glu1481*	70	0		82	3	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	46	12.115611	0.99637	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.39	5.39	0.77823	.	0.105591	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.1797	0.93617	0.0:0.0:1.0:0.0	.	.	.	.	X	1481;1481;1432;1168	.	ENSP00000339299:E1481X	E	+	1	0	TRIO	14452006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.524000	0.85096	0.591000	0.81541	GAG	.		0.363	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		T	14399006	G	T	14399006	4	4	1	1	0	0	0	0	0	1	0	0	16600	1291	45	3	4559	3	TRIO	5	14399006	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	13166652	14399006	166516254	49	49											
MAP3K1	4214	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	56178366	56178366	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:56178366C>T	ENST00000399503.3	+	14	3339	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1113					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)		AGACAGTGTTCACCCCAGTAG	0.433																																					p.F1113F		.											.	.	.	0			c.C3339T						.						122	117	119					5																	56178366		1987	4173	6160	SO:0001819	synonymous_variant	4214	exon14			AGTGTTCACCCCA	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.3339C>T	5.37:g.56178366C>T		41	0		57	6	NM_005921		Silent	SNP	ENST00000399503.3	37	CCDS43318.1																																																																																			.		0.433	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56178366	C	T	56178366	2	4	1	1	0	0	0	0	0	0	0	1	9281	825	29	3		3	MAP3K1	5	56178366	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	41779360	56178366	124736894	50	50											
RASA1	5921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	86672323	86672323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:86672323C>T	ENST00000274376.6	+	16	2689	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	RASA1_ENST00000456692.2_Nonsense_Mutation_p.R532*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.R542*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.R543*|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	709					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)	p.R532*(1)|p.R709*(1)		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)		CCTGCGTGTTCGAGCACGATA	0.398																																					p.R709X		.											RASA1_ENST00000456692,NS,carcinoma,0,2	RASA1_ENST00000456692	0	2	Substitution - Nonsense(2)	lung(2)	c.C2125T	GRCh37	CM083069	RASA1	M		.						97	93	94					5																	86672323		2203	4300	6503	SO:0001587	stop_gained	5921	exon16			CGTGTTCGAGCAC		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.2125C>T	5.37:g.86672323C>T	ENSP00000274376:p.Arg709*	114	0		123	25	NM_002890	B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	39	7.301230	0.98196	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.54	3.51	0.40186	.	0.059655	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8021	0.78458	0.2591:0.7409:0.0:0.0	.	.	.	.	X	709;742;532;542;543	.	ENSP00000274376:R709X	R	+	1	2	RASA1	86708079	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.395000	0.44459	1.292000	0.44672	0.563000	0.77884	CGA	.		0.398	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		T	86672323	C	T	86672323	4	4	1	1	0	0	0	0	0	1	0	0	13105	876	31	1	2199	1	RASA1	5	86672323	Nonsense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	30493957	86672323	94242937	51	51											
ANKRD32	84250	hgsc.bcm.edu	37	5	93966366	93966366	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:93966366C>T	ENST00000265140.5	+	4	768	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	117						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AGAACTGAAACGCACTGGTGC	0.398																																					p.R117C		.											ANKRD32_ENST00000265140,colon,carcinoma,0,1	ANKRD32_ENST00000265140	0	0			c.C349T						.						115	106	109					5																	93966366		692	1591	2283	SO:0001583	missense	84250	exon4			CTGAAACGCACTG	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.349C>T	5.37:g.93966366C>T	ENSP00000265140:p.Arg117Cys	50	0		46	2	NM_032290	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686803	0.48097	.	.	ENSG00000133302	ENST00000265140;ENST00000504099	T;T	0.68025	-0.3;-0.3	5.84	4.9	0.64082	.	0.000000	0.46442	D	0.000291	T	0.62171	0.2406	M	0.73598	2.24	0.41857	D	0.990202	B	0.27450	0.179	B	0.18263	0.021	T	0.63323	-0.6663	10	0.46703	T	0.11	.	8.8602	0.35253	0.2309:0.6868:0.0:0.0823	.	117	Q9BQI6	ANR32_HUMAN	C	117	ENSP00000265140:R117C;ENSP00000425022:R117C	ENSP00000265140:R117C	R	+	1	0	ANKRD32	93992122	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.233000	0.17911	2.760000	0.94817	0.591000	0.81541	CGC	.		0.398	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		T	93966366	C	T	93966366	3	4	1	1	0	0	0	0	1	0	0	0	660	536	19	1	359	1	ANKRD32	5	93966366	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	7294043	93966366	86948894	52	52											
FBN2	2201	hgsc.bcm.edu	37	5	127714472	127714472	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:127714472G>T	ENST00000508053.1	-	18	2689	c.1715C>A	c.(1714-1716)gCa>gAa	p.A572E	FBN2_ENST00000511489.1_5'Flank|FBN2_ENST00000508989.1_Missense_Mutation_p.A539E|FBN2_ENST00000262464.4_Missense_Mutation_p.A572E			P35556	FBN2_HUMAN	fibrillin 2	572	EGF-like 7; 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)	p.A572V(2)		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)		ACCAATGCATGCTTGCTTGGT	0.378																																					p.A572E		.											FBN2_ENST00000508053,NS,carcinoma,0,1	FBN2_ENST00000508053	0	2	Substitution - Missense(2)	kidney(2)	c.C1715A						.						97	91	93					5																	127714472		2203	4300	6503	SO:0001583	missense	2201	exon12			ATGCATGCTTGCT	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.1715C>A	5.37:g.127714472G>T	ENSP00000424571:p.Ala572Glu	51	0		44	2	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096495	0.20552	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91843	-2.92;-2.92;-2.92	4.26	4.26	0.50523	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.080793	0.49916	D	0.000135	D	0.88258	0.6388	N	0.02842	-0.48	0.51482	D	0.999929	B;D	0.69078	0.17;0.997	B;D	0.75484	0.268;0.986	T	0.83271	-0.0043	10	0.05721	T	0.95	.	17.9883	0.89161	0.0:0.0:1.0:0.0	.	539;572	D6RJI3;P35556	.;FBN2_HUMAN	E	572;572;539	ENSP00000262464:A572E;ENSP00000424571:A572E;ENSP00000425596:A539E	ENSP00000262464:A572E	A	-	2	0	FBN2	127742371	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.185000	0.58330	2.654000	0.90174	0.655000	0.94253	GCA	.		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127714472	G	T	127714472	3	4	1	1	0	0	0	0	1	0	0	0	5725	1319	46	3	7239	3	FBN2	5	127714472	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	33748106	127714472	53200788	53	53											
AFF4	27125	hgsc.bcm.edu	37	5	132228047	132228047	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:132228047C>A	ENST00000265343.5	-	13	2825	c.2446G>T	c.(2446-2448)Gct>Tct	p.A816S	AFF4_ENST00000378595.3_Missense_Mutation_p.A816S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	816					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)			ACAGGCCCAGCGGGAGAAGGC	0.448																																					p.A816S	Ovarian(126;889 1733 2942 10745 11605)	.											AFF4,right_upper_lobe,carcinoma,0,1	AFF4	0	0			c.G2446T						.						107	110	109					5																	132228047		2203	4300	6503	SO:0001583	missense	27125	exon13			GCCCAGCGGGAGA	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.2446G>T	5.37:g.132228047C>A	ENSP00000265343:p.Ala816Ser	35	0		40	2	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478198	0.63849	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.62364	0.03;0.03	5.68	5.68	0.88126	.	0.246810	0.41938	D	0.000791	T	0.61739	0.2371	N	0.12569	0.235	0.45139	D	0.998151	D;B	0.76494	0.999;0.367	D;B	0.85130	0.997;0.165	T	0.54970	-0.8213	10	0.06757	T	0.87	-11.7626	17.9742	0.89122	0.0:1.0:0.0:0.0	.	816;816	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	S	816	ENSP00000265343:A816S;ENSP00000367858:A816S	ENSP00000265343:A816S	A	-	1	0	AFF4	132255946	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.243000	0.58721	2.677000	0.91161	0.563000	0.77884	GCT	.		0.448	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		A	132228047	C	A	132228047	3	1	1	1	0	0	0	0	1	0	0	0	359	768	27	2	1081	2	AFF4	5	132228047	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	4513575	132228047	48687213	54	54											
PCDHB8	56128	hgsc.bcm.edu	37	5	140559572	140559572	+	Missense_Mutation	SNP	T	T	C	rs17844504		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:140559572T>C	ENST00000239444.2	+	1	2202	c.1957T>C	c.(1957-1959)Tgc>Cgc	p.C653R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	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)	p.C653R(1)		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)			CGAGCCTCCGTGCTCGGCCAC	0.711																																					p.C653R		.											PCDHB8,NS,malignant_melanoma,0,1	PCDHB8	0	1	Substitution - Missense(1)	NS(1)	c.T1957C						.						22	25	24					5																	140559572		2150	4208	6358	SO:0001583	missense	56128	exon1			CCTCCGTGCTCGG	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.1957T>C	5.37:g.140559572T>C	ENSP00000239444:p.Cys653Arg	72	0		98	5	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.657243	0.00779	.	.	ENSG00000120322	ENST00000239444	T	0.45276	0.9	4.22	3.33	0.38152	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08044	0.0201	N	0.00096	-2.155	0.36249	D	0.853792	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	9	0.05833	T	0.94	.	8.1883	0.31352	0.1644:0.7506:0.0:0.085	rs17844504	653	Q9UN66	PCDB8_HUMAN	R	653	ENSP00000239444:C653R	ENSP00000239444:C653R	C	+	1	0	PCDHB8	140539756	0.000000	0.05858	0.047000	0.18901	0.446000	0.32137	0.734000	0.26101	0.243000	0.21327	-0.711000	0.03637	TGC	.		0.711	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		C	140559572	T	C	140559572	3	2	1	1	0	0	0	0	1	0	0	0	11587	1696	59	4	1959	4	PCDHB8	5	140559572	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	8331525	140559572	40355688	55	55											
CSF1R	1436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	149450020	149450020	+	Splice_Site	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:149450020T>C	ENST00000286301.3	-	8	1488	c.1197A>G	c.(1195-1197)cgA>cgG	p.R399R		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	399	Ig-like C2-type 4.				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)	AGCACTCACATCGAAGGGTGA	0.657																																					p.R399R		.											.	.	.	0			c.A1197G						.						22	24	24					5																	149450020		2197	4292	6489	SO:0001630	splice_region_variant	1436	exon8			CTCACATCGAAGG	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.1198+1A>G	5.37:g.149450020T>C		30	0		38	5	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	CCDS4302.1																																																																																			.		0.657	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	Silent	C	149450020	T	C	149450020	5	2	1	1	0	0	0	0	0	0	1	0	3941	1449	50	4	1781	4	CSF1R	5	149450020	Splice_Site	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	8890448	149450020	31465240	56	56											
ODZ2	57451	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	167675119	167675119	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr5:167675119C>T	ENST00000518659.1	+	27	7214	c.7175C>T	c.(7174-7176)aCg>aTg	p.T2392M	TENM2_ENST00000403607.2_Missense_Mutation_p.T2216M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2391M|TENM2_ENST00000519204.1_Missense_Mutation_p.T2271M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2153M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2392					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)										CTGCAGTACACGGCCTATGGG	0.532																																					p.T2383M		.											.	.	.	0			c.C7148T						.						163	163	163					5																	167675119		2001	4174	6175	SO:0001583	missense	57451	exon27			AGTACACGGCCTA	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.7175C>T	5.37:g.167675119C>T	ENSP00000429430:p.Thr2392Met	32	0		58	4	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	18.59	3.656207	0.67586	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.22;-2.21;-2.32;-2.66;-2.69	4.62	4.62	0.57501	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76071	0.987;0.97;0.855	D	0.97151	0.9831	10	0.87932	D	0	.	17.997	0.89187	0.0:1.0:0.0:0.0	.	2391;2392;2153	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2392;2391;2271;2153;2216	ENSP00000429430:T2392M;ENSP00000438635:T2391M;ENSP00000428964:T2271M;ENSP00000427874:T2153M;ENSP00000384905:T2216M	ENSP00000384905:T2216M	T	+	2	0	ODZ2	167607697	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	7.609000	0.82925	2.556000	0.86216	0.561000	0.74099	ACG	.		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167675119	C	T	167675119	3	4	1	1	0	0	0	0	1	0	0	0	10874	536	19	1	7254	1	ODZ2	5	167675119	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	18225099	167675119	13240141	57	57											
BTN3A1	11119	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	26411341	26411341	+	Silent	SNP	A	A	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:26411341A>G	ENST00000289361.6	+	8	1337	c.969A>G	c.(967-969)ggA>ggG	p.G323G	BTN3A1_ENST00000425234.2_Silent_p.G323G|BTN3A1_ENST00000414912.2_Silent_p.G271G|BTN3A1_ENST00000476549.2_Silent_p.G323G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	323	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTAGGGGGAGAGAGACATT	0.408																																					p.G323G		.											.	.	.	0			c.A969G						.						170	169	169					6																	26411341		2203	4300	6503	SO:0001819	synonymous_variant	11119	exon8			AGGGGGAGAGAGA	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.969A>G	6.37:g.26411341A>G		52	0		74	4	NM_007048	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	CCDS4608.1																																																																																			.		0.408	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			G	26411341	A	G	26411341	2	3	1	1	0	0	0	0	0	0	0	1	1566	291	11	4		4	BTN3A1	6	26411341	Silent	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09		26411341	144703726	58	58											
HLA-F	3134	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	29693309	29693309	+	Silent	SNP	C	C	T	rs566982053		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:29693309C>T	ENST00000376861.1	+	6	1356	c.972C>T	c.(970-972)gtC>gtT	p.V324V	HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000259951.7_Silent_p.V324V|HLA-F_ENST00000440587.2_Silent_p.V206V|HLA-F_ENST00000334668.4_Silent_p.V324V|HLA-F_ENST00000434407.2_Silent_p.V232V			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	324					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)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|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)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GAGCTGTGGTCGCTGCTGTGA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		19989	0		0	False		,,,				2504	0				p.V324V		.											.	.	.	0			c.C972T						.						183	179	180					6																	29693309		1511	2709	4220	SO:0001819	synonymous_variant	3134	exon5			TGTGGTCGCTGCT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.972C>T	6.37:g.29693309C>T		42	0		76	5	NM_001098479	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Silent	SNP	ENST00000376861.1	37	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	3.586	-0.084569	0.07097	.	.	ENSG00000204642	ENST00000429294	.	.	.	1.76	-3.36	0.04913	.	.	.	.	.	T	0.05960	0.0155	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34601	-0.9822	4	.	.	.	.	0.468	0.00527	0.1952:0.2491:0.3202:0.2355	.	.	.	.	L	203	.	.	S	+	2	0	HLA-F	29801288	0.000000	0.05858	0.007000	0.13788	0.077000	0.17291	-0.939000	0.03933	-0.410000	0.07542	0.205000	0.17691	TCG	.		0.582	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		T	29693309	C	T	29693309	2	4	1	1	0	0	0	0	0	0	0	1	7238	871	31	1		1	HLA-F	6	29693309	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	3281968	29693309	141421758	59	59											
MUC21	394263	bcgsc.ca	37	6	30954572	30954572	+	Missense_Mutation	SNP	C	C	T	rs146037191		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:30954572C>T	ENST00000376296.3	+	2	861	c.620C>T	c.(619-621)gCc>gTc	p.A207V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	207	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.A207V(2)		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						TCCAGTGGGGCCAGCACAGCC	0.627																																					p.A207V													MUC21,NS,malignant_melanoma,0,2	MUC21	98	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C620T						.						152	149	150					6																	30954572		2203	4300	6503	SO:0001583	missense	394263	exon2			GTGGGGCCAGCAC	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.620C>T	6.37:g.30954572C>T	ENSP00000365473:p.Ala207Val	86	2		151	13	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	8.950	0.968056	0.18659	.	.	ENSG00000204544	ENST00000376296	T	0.02737	4.18	3.86	-1.98	0.07480	.	.	.	.	.	T	0.00356	0.0011	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45190	-0.9278	8	.	.	.	-2.1025	0.8413	0.01150	0.1528:0.2516:0.2999:0.2958	.	207	Q5SSG8	MUC21_HUMAN	V	207	ENSP00000365473:A207V	.	A	+	2	0	MUC21	31062551	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.003000	0.12901	-0.201000	0.10284	-0.424000	0.05967	GCC	C|0.998;T|0.002		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30954572	C	T	30954572	3	4	1	1	0	0	0	0	1	0	0	0	10015	739	26	3	626	3	MUC21	6	30954572	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	1261263	30954572	140160495	60	60											
POLH	5429	bcgsc.ca	37	6	43581551	43581551	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:43581551G>T	ENST00000372236.4	+	11	1694	c.1399G>T	c.(1399-1401)Ggc>Tgc	p.G467C	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.G405C	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)			CCAGGGAAGTGGCCCAGCGGT	0.493								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																												p.G467C													.	POLH	54	0			c.G1399T						.						54	57	56					6																	43581551		2203	4300	6503	SO:0001583	missense	5429	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GGAAGTGGCCCAG	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.1399G>T	6.37:g.43581551G>T	ENSP00000361310:p.Gly467Cys	36	0		44	4	NM_006502	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	7.821	0.717686	0.15372	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.59364	0.39;0.27	5.33	2.08	0.27032	.	0.671825	0.16262	N	0.222168	T	0.29914	0.0748	L	0.56769	1.78	0.09310	N	0.999999	P;P	0.50710	0.621;0.938	B;B	0.40101	0.219;0.319	T	0.11842	-1.0571	10	0.59425	D	0.04	-26.0822	5.0747	0.14625	0.4912:0.0:0.5088:0.0	.	405;467	B4DG64;Q9Y253	.;POLH_HUMAN	C	467;405	ENSP00000361310:G467C;ENSP00000442102:G405C	ENSP00000361310:G467C	G	+	1	0	POLH	43689529	0.669000	0.27502	0.040000	0.18447	0.051000	0.14879	1.046000	0.30354	0.750000	0.32877	0.491000	0.48974	GGC	.		0.493	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		T	43581551	G	T	43581551	3	4	1	1	0	0	0	0	1	0	0	0	12241	1348	47	3	1437	3	POLH	6	43581551	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	12626979	43581551	127533516	61	61											
RUNX2	860	hgsc.bcm.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	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						agcagcagcagcaacagcagc	0.736																																					p.Q64Q		.											RUNX2_ENST00000352853,NS,carcinoma,0,2	RUNX2_ENST00000352853	0	0			c.G192A						.						11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860	exon3			GCAGCAGCAACAG	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.192G>A	6.37:g.45390463G>A		41	0		48	3	NM_001024630	O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	CCDS43467.2																																																																																			.		0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45390463	G	A	45390463	2	1	1	1	0	0	0	0	0	0	0	1	13793	962	34	3		3	RUNX2	6	45390463	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	1808912	45390463	125724604	62	62											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	51921499	51921499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:51921499G>A	ENST00000371117.3	-	18	1965	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R564*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	564					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)					ACAGCACCTCGTTCAAATCCA	0.403																																					p.R564X		.											.	.	.	0			c.C1690T						.						128	132	131					6																	51921499		2203	4300	6503	SO:0001587	stop_gained	5314	exon18			CACCTCGTTCAAA	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.1690C>T	6.37:g.51921499G>A	ENSP00000360158:p.Arg564*	55	0		82	13	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253145	0.97417	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.4	2.53	0.30540	.	0.716247	0.13259	N	0.401389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1374	0.48383	0.0:0.2543:0.6168:0.1289	.	.	.	.	X	564	.	ENSP00000341097:R564X	R	-	1	2	PKHD1	52029458	0.929000	0.31497	0.967000	0.41034	0.004000	0.04260	0.188000	0.17018	0.262000	0.21774	-1.943000	0.00494	CGA	.		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51921499	G	A	51921499	4	1	1	1	0	0	0	0	0	1	0	0	12010	1153	40	1	10773	1	PKHD1	6	51921499	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	6531036	51921499	119193568	63	63											
DST	667	hgsc.bcm.edu	37	6	56464980	56464980	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:56464980G>T	ENST00000361203.3	-	41	10955	c.10948C>A	c.(10948-10950)Caa>Aaa	p.Q3650K	DST_ENST00000370769.4_Missense_Mutation_p.Q3652K|DST_ENST00000244364.6_Missense_Mutation_p.Q1238K|DST_ENST00000370754.5_Missense_Mutation_p.Q3830K|DST_ENST00000370788.2_Missense_Mutation_p.Q1564K|DST_ENST00000421834.2_Missense_Mutation_p.Q1564K|DST_ENST00000312431.6_Missense_Mutation_p.Q3650K|DST_ENST00000446842.2_Missense_Mutation_p.Q3326K			Q03001	DYST_HUMAN	dystonin	3650					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)			CATATCCCTTGGAGTTTCTCT	0.393																																					p.Q1238K		.											.	.	.	0			c.C3712A						.						167	157	160					6																	56464980		1849	4085	5934	SO:0001583	missense	667	exon26			TCCCTTGGAGTTT	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.10948C>A	6.37:g.56464980G>T	ENSP00000354508:p.Gln3650Lys	73	0		107	5	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		.	.	.	.	.	.	.	.	.	.	G	17.84	3.487379	0.63962	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	6.05	6.05	0.98169	.	0.000000	0.49916	D	0.000121	T	0.58722	0.2142	M	0.65975	2.015	0.25309	N	0.989213	D;P;P;P;P	0.54964	0.969;0.885;0.943;0.702;0.486	D;P;P;B;B	0.64877	0.93;0.622;0.772;0.217;0.205	T	0.43925	-0.9361	9	0.19590	T	0.45	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1564;3652;3830;3650;1238	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	1238;3830;3652;1564;3326;3650;1564;3650	ENSP00000244364:Q1238K;ENSP00000359790:Q3830K;ENSP00000359805:Q3652K;ENSP00000400883:Q1564K;ENSP00000393645:Q3326K;ENSP00000307959:Q3650K;ENSP00000359824:Q1564K;ENSP00000354508:Q3650K	ENSP00000244364:Q1238K	Q	-	1	0	DST	56572939	1.000000	0.71417	0.937000	0.37676	0.916000	0.54674	5.650000	0.67944	2.878000	0.98634	0.650000	0.86243	CAA	.		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56464980	G	T	56464980	3	4	1	1	0	0	0	0	1	0	0	0	4797	1357	47	3	12039	3	DST	6	56464980	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	4543481	56464980	114650087	64	64											
ZNF292	23036	hgsc.bcm.edu	37	6	87964852	87964852	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:87964852G>T	ENST00000369577.3	+	8	1548	c.1505G>T	c.(1504-1506)gGt>gTt	p.G502V	ZNF292_ENST00000339907.4_Missense_Mutation_p.G497V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	502						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)		GGTGGAGTTGGTGCTAATTCT	0.378																																					p.G502V		.											.	.	.	0			c.G1505T						.						111	105	107					6																	87964852		1875	4114	5989	SO:0001583	missense	23036	exon8			GAGTTGGTGCTAA	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.1505G>T	6.37:g.87964852G>T	ENSP00000358590:p.Gly502Val	38	0		64	3	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434117	0.12045	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.35236	1.32;1.32	5.87	3.84	0.44239	.	0.312456	0.35179	N	0.003399	T	0.09512	0.0234	N	0.22421	0.69	0.58432	D	0.999994	B	0.11235	0.004	B	0.10450	0.005	T	0.19192	-1.0313	10	0.33141	T	0.24	.	3.0989	0.06319	0.2199:0.2748:0.5053:0.0	.	502	O60281	ZN292_HUMAN	V	502;497	ENSP00000358590:G502V;ENSP00000342847:G497V	ENSP00000342847:G497V	G	+	2	0	ZNF292	88021571	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.016000	0.57159	2.775000	0.95449	0.650000	0.86243	GGT	.		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		T	87964852	G	T	87964852	3	4	1	1	0	0	0	0	1	0	0	0	17874	1261	44	3	1535	3	ZNF292	6	87964852	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	31499872	87964852	83150215	65	65											
LAMA4	3910	hgsc.bcm.edu	37	6	112510361	112510361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:112510361G>T	ENST00000230538.7	-	7	1162	c.765C>A	c.(763-765)tgC>tgA	p.C255*	LAMA4_ENST00000524032.1_5'Flank|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.C255*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.C255*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.C255*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	255	Laminin EGF-like 4; truncated. {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)		CTTCTTCCAAGCATTCTCCGG	0.443																																					p.C255X		.											.	.	.	0			c.C765A						.						114	102	106					6																	112510361		2203	4300	6503	SO:0001587	stop_gained	3910	exon7			TTCCAAGCATTCT		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.765C>A	6.37:g.112510361G>T	ENSP00000230538:p.Cys255*	57	0		87	3	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	39|39|39	7.872090|7.872090|7.872090	0.98537|0.98537|0.98537	.|.|.	.|.|.	ENSG00000112769|ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588|ENST00000521732	.|.|.	.|.|.	.|.|.	5.5|5.5|5.5	2.76|2.76|2.76	0.32466|0.32466|0.32466	.|.|.	.|0.047545|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.44540|.|0.44540	0.1298|.|0.1298	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.37842|.|0.37842	-0.9688|.|-0.9688	4|.|4	.|0.02654|.	.|T|.	.|1|.	.|.|.	8.7189|8.7189|8.7189	0.34428|0.34428|0.34428	0.287:0.0:0.713:0.0|0.287:0.0:0.713:0.0|0.287:0.0:0.713:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	59|255|75	.|.|.	.|ENSP00000230538:C255X|.	A|C|L	-|-|-	2|3|1	0|2|0	LAMA4|LAMA4|LAMA4	112617054|112617054|112617054	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	1.169000|1.169000|1.169000	0.31871|0.31871|0.31871	0.821000|0.821000|0.821000	0.34540|0.34540|0.34540	-0.126000|-0.126000|-0.126000	0.14955|0.14955|0.14955	GCT|TGC|CTT	.		0.443	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		T	112510361	G	T	112510361	4	4	1	1	0	0	0	0	0	1	0	0	8636	963	34	3	4838	3	LAMA4	6	112510361	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	24545509	112510361	58604706	66	66											
ZUFSP	221302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	116957009	116957009	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:116957009C>T	ENST00000368576.3	-	10	1966	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	575							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGAATCTTCTCGGCTGTAAAG	0.294																																					p.E575K		.											.	.	.	0			c.G1723A						.						69	74	72					6																	116957009		2203	4298	6501	SO:0001583	missense	221302	exon10			TCTTCTCGGCTGT	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1723G>A	6.37:g.116957009C>T	ENSP00000357565:p.Glu575Lys	33	0		42	4	NM_145062	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434687	0.83885	.	.	ENSG00000153975	ENST00000368576	T	0.45668	0.89	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.60117	0.869	T	0.53802	-0.8387	10	0.56958	D	0.05	-1.189	13.8178	0.63303	0.0:0.8455:0.1545:0.0	.	575	Q96AP4	ZUFSP_HUMAN	K	575	ENSP00000357565:E575K	ENSP00000357565:E575K	E	-	1	0	ZUFSP	117063702	0.991000	0.36638	0.957000	0.39632	0.993000	0.82548	3.198000	0.51035	2.420000	0.82092	0.563000	0.77884	GAG	.		0.294	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		T	116957009	C	T	116957009	3	4	1	1	0	0	0	0	1	0	0	0	18294	893	31	1	17	1	ZUFSP	6	116957009	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	4446648	116957009	54158058	67	67											
SHPRH	257218	hgsc.bcm.edu	37	6	146268687	146268687	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:146268687G>T	ENST00000367505.2	-	6	1418	c.1154C>A	c.(1153-1155)gCt>gAt	p.A385D	SHPRH_ENST00000367503.3_Missense_Mutation_p.A385D|SHPRH_ENST00000275233.7_Missense_Mutation_p.A385D|SHPRH_ENST00000438092.2_Missense_Mutation_p.A385D			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	385	Helicase ATP-binding; first part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		CAGAATCAGAGCCAAAACCTC	0.483																																					p.A385D		.											.	.	.	0			c.C1154A						.						136	132	133					6																	146268687		1942	4140	6082	SO:0001583	missense	257218	exon6			ATCAGAGCCAAAA	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.1154C>A	6.37:g.146268687G>T	ENSP00000356475:p.Ala385Asp	67	0		52	3	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851758	0.91355	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.62	4.74	0.60224	DEAD-like helicase (1);SNF2-related (1);	0.083002	0.47852	D	0.000211	D	0.95564	0.8558	L	0.58101	1.795	0.45390	D	0.998376	D;D;D;D	0.76494	0.992;0.998;0.994;0.999	P;D;P;D	0.74023	0.856;0.965;0.908;0.982	D	0.96297	0.9218	10	0.87932	D	0	-18.9459	15.1179	0.72419	0.0:0.2679:0.7321:0.0	.	274;385;385;274	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	D	385;385;385;385;274	ENSP00000356475:A385D;ENSP00000356473:A385D;ENSP00000412797:A385D;ENSP00000275233:A385D	ENSP00000275233:A385D	A	-	2	0	SHPRH	146310380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.831000	0.86748	1.465000	0.48006	0.585000	0.79938	GCT	.		0.483	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146268687	G	T	146268687	3	4	1	1	0	0	0	0	1	0	0	0	14336	971	34	3	4041	3	SHPRH	6	146268687	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	29311678	146268687	24846380	68	68											
DLL1	28514	hgsc.bcm.edu	37	6	170597856	170597856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr6:170597856C>A	ENST00000366756.3	-	3	706	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	125					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGGAGAGCTTCAATAATCAGA	0.458																																					p.E125X		.											.	.	.	0			c.G373T						.						207	204	205					6																	170597856		2203	4300	6503	SO:0001587	stop_gained	28514	exon3			GAGCTTCAATAAT	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.373G>T	6.37:g.170597856C>A	ENSP00000355718:p.Glu125*	91	0		105	4	NM_005618	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Nonsense_Mutation	SNP	ENST00000366756.3	37	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	40	8.358645	0.98777	.	.	ENSG00000198719	ENST00000366756	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.1365	0.86742	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000355718:E125X	E	-	1	0	DLL1	170439781	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.257000	0.78362	2.266000	0.75297	0.558000	0.71614	GAA	.		0.458	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			A	170597856	C	A	170597856	4	1	1	1	0	0	0	0	0	1	0	0	4580	835	29	3	1834	3	DLL1	6	170597856	Nonsense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	24329169	170597856	517211	69	69											
PKD1L1	168507	hgsc.bcm.edu	37	7	47876572	47876572	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr7:47876572G>T	ENST00000289672.2	-	37	5940	c.5890C>A	c.(5890-5892)Ctg>Atg	p.L1964M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1964					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						TAGACGCACAGCAGGGAGAAG	0.597																																					p.L1964M		.											PKD1L1,NS,carcinoma,0,1	PKD1L1	0	0			c.C5890A						.						63	56	58					7																	47876572		2203	4300	6503	SO:0001583	missense	168507	exon37			CGCACAGCAGGGA	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.5890C>A	7.37:g.47876572G>T	ENSP00000289672:p.Leu1964Met	36	0		45	2	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803967	0.31869	.	.	ENSG00000158683	ENST00000289672	T	0.37411	1.2	5.1	1.9	0.25705	.	0.284658	0.23758	N	0.044856	T	0.50463	0.1617	L	0.56769	1.78	0.21105	N	0.999786	D	0.89917	1.0	D	0.73380	0.98	T	0.27157	-1.0082	10	0.59425	D	0.04	-14.0775	9.7551	0.40498	0.0:0.3452:0.5238:0.131	.	1964	Q8TDX9	PK1L1_HUMAN	M	1964	ENSP00000289672:L1964M	ENSP00000289672:L1964M	L	-	1	2	PKD1L1	47843097	1.000000	0.71417	0.732000	0.30844	0.160000	0.22226	1.028000	0.30128	1.122000	0.41944	0.655000	0.94253	CTG	.		0.597	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47876572	G	T	47876572	3	4	1	1	0	0	0	0	1	0	0	0	12003	962	34	3	2743	3	PKD1L1	7	47876572	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		47876572	111262091	70	70											
DNAJC2	27000	hgsc.bcm.edu;bcgsc.ca	37	7	102953518	102953518	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr7:102953518G>T	ENST00000379263.3	-	16	1917	c.1667C>A	c.(1666-1668)aCa>aAa	p.T556K	PMPCB_ENST00000420236.2_Intron|PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Missense_Mutation_p.T503K	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	556	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTGTTCTTCTGTTGTCCAAGG	0.393																																					p.T556K		.											.	.	.	0			c.C1667A						.						197	179	185					7																	102953518		1826	4081	5907	SO:0001583	missense	27000	exon16			TCTTCTGTTGTCC	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1667C>A	7.37:g.102953518G>T	ENSP00000368565:p.Thr556Lys	52	0		57	4	NM_014377	A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596915	0.66332	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	T;T	0.46063	0.88;0.88	5.51	5.51	0.81932	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.044478	0.85682	D	0.000000	T	0.23410	0.0566	N	0.01015	-1.05	0.80722	D	1	P;P	0.49559	0.925;0.801	P;B	0.49752	0.621;0.355	T	0.27226	-1.0080	10	0.05833	T	0.94	-26.1583	19.7866	0.96442	0.0:0.0:1.0:0.0	.	503;556	Q99543-2;Q99543	.;DNJC2_HUMAN	K	503;556	ENSP00000249270:T503K;ENSP00000368565:T556K	ENSP00000249270:T503K	T	-	2	0	DNAJC2	102740754	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.328000	0.96403	2.756000	0.94617	0.655000	0.94253	ACA	.		0.393	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			T	102953518	G	T	102953518	3	4	1	1	0	0	0	0	1	0	0	0	4653	1377	48	3	206	3	DNAJC2	7	102953518	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	55076946	102953518	56185145	71	71											
CAV1	857	hgsc.bcm.edu	37	7	116199003	116199003	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr7:116199003G>T	ENST00000341049.2	+	3	477	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	CAV1_ENST00000393470.1_Missense_Mutation_p.D56Y|CAV1_ENST00000393468.1_Missense_Mutation_p.D36Y|CAV1_ENST00000393467.1_Missense_Mutation_p.D36Y|CAV1_ENST00000405348.1_Missense_Mutation_p.D36Y	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	67					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CTTTTAGATTGACTTTGAAGA	0.388																																					p.D67Y		.											CAV1,NS,neuroblastoma,0,1	CAV1	0	0			c.G199T						.						66	56	60					7																	116199003		2203	4300	6503	SO:0001583	missense	857	exon3			TAGATTGACTTTG	AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"caveolin 1, caveolae protein, 22kD"	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.199G>T	7.37:g.116199003G>T	ENSP00000339191:p.Asp67Tyr	29	0		42	3	NM_001753	Q9UGP1|Q9UNG1|Q9UQH6	Missense_Mutation	SNP	ENST00000341049.2	37	CCDS5767.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220622	0.79464	.	.	ENSG00000105974	ENST00000341049;ENST00000393470;ENST00000405348;ENST00000456473;ENST00000393468;ENST00000393467	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.78637	2.42	0.80722	D	1	P	0.48407	0.91	P	0.57425	0.82	D	0.95260	0.8368	10	0.59425	D	0.04	-36.0006	19.8309	0.96634	0.0:0.0:1.0:0.0	.	67	Q03135	CAV1_HUMAN	Y	67;56;36;36;36;36	ENSP00000339191:D67Y;ENSP00000377113:D56Y;ENSP00000384348:D36Y;ENSP00000389033:D36Y;ENSP00000377111:D36Y;ENSP00000377110:D36Y	ENSP00000339191:D67Y	D	+	1	0	CAV1	115986239	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	GAC	.		0.388	CAV1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059734.4	NM_001753		T	116199003	G	T	116199003	3	4	1	1	0	0	0	0	1	0	0	0	2700	1290	45	3	209	3	CAV1	7	116199003	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	13245485	116199003	42939660	72	72											
GSTK1	373156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	142960620	142960620	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr7:142960620C>T	ENST00000358406.5	+	1	85	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Missense_Mutation_p.P5L|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000443571.2_Missense_Mutation_p.P5L|GSTK1_ENST00000479303.1_Missense_Mutation_p.P5L	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	5					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)	p.P5Q(2)		lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGGCCCCTGCCGCGCACCGTG	0.677																																					p.P5L		.											GSTK1_ENST00000479303,NS,haematopoietic_neoplasm,0,4	GSTK1_ENST00000479303	0	2	Substitution - Missense(2)	lung(2)	c.C14T						.						50	54	53					7																	142960620		2203	4300	6503	SO:0001583	missense	373156	exon1			CCCTGCCGCGCAC		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.14C>T	7.37:g.142960620C>T	ENSP00000351181:p.Pro5Leu	41	0		44	5	NM_001143681	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865764	0.51588	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.49	4.62	0.57501	Thioredoxin-like fold (1);	0.281782	0.36628	N	0.002492	T	0.41119	0.1145	L	0.58669	1.825	0.27073	N	0.963267	B;B;B;B	0.31040	0.218;0.07;0.305;0.001	B;B;B;B	0.21546	0.035;0.016;0.033;0.001	T	0.35525	-0.9785	9	0.40728	T	0.16	-15.7146	11.14	0.48398	0.0:0.9135:0.0:0.0865	.	5;5;5;5	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	L	5	.	ENSP00000351181:P5L	P	+	2	0	GSTK1	142670742	0.813000	0.29090	0.341000	0.25589	0.208000	0.24298	1.444000	0.35068	1.302000	0.44855	-0.306000	0.09157	CCG	.		0.677	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		T	142960620	C	T	142960620	3	4	1	1	0	0	0	0	1	0	0	0	6863	652	23	1	16	1	GSTK1	7	142960620	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	26761617	142960620	16178043	73	73											
EZH2	2146	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	148523609	148523609	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr7:148523609G>T	ENST00000460911.1	-	8	932	c.844C>A	c.(844-846)Cat>Aat	p.H282N	EZH2_ENST00000478654.1_Missense_Mutation_p.H273N|EZH2_ENST00000483967.1_Missense_Mutation_p.H273N|EZH2_ENST00000476773.1_Missense_Mutation_p.H273N|EZH2_ENST00000320356.2_Missense_Mutation_p.H282N|EZH2_ENST00000541220.1_Missense_Mutation_p.H273N|EZH2_ENST00000350995.2_Missense_Mutation_p.H243N|EZH2_ENST00000536783.1_Missense_Mutation_p.H173N			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	282	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)			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)			AAAAGCGTATGAAAGGAGTGT	0.413			Mis		DLBCL																																p.H282N		.		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	.	.	0			c.C844A						.						163	135	145					7																	148523609		2203	4300	6503	SO:0001583	missense	2146	exon8			GCGTATGAAAGGA		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.844C>A	7.37:g.148523609G>T	ENSP00000419711:p.His282Asn	44	0		69	5	NM_001203247	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.896523	0.91962	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;0.999;1.0;0.998;0.999;0.994	P;D;D;D;D;D	0.72982	0.82;0.962;0.979;0.965;0.962;0.948	D	0.92777	0.6237	10	0.48119	T	0.1	.	19.4397	0.94813	0.0:0.0:1.0:0.0	.	282;273;273;282;243;282	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	N	273;282;282;243;273;273;273;173	ENSP00000417062:H273N;ENSP00000320147:H282N;ENSP00000419711:H282N;ENSP00000223193:H243N;ENSP00000443219:H273N;ENSP00000419050:H273N;ENSP00000419856:H273N;ENSP00000439305:H173N	ENSP00000320147:H282N	H	-	1	0	EZH2	148154542	1.000000	0.71417	0.846000	0.33378	0.991000	0.79684	9.611000	0.98342	2.582000	0.87167	0.591000	0.81541	CAT	.		0.413	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		T	148523609	G	T	148523609	3	4	1	1	0	0	0	0	1	0	0	0	5350	1290	45	3	1463	3	EZH2	7	148523609	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	5562989	148523609	10615054	74	74											
SSPO	23145	hgsc.bcm.edu	37	7	149503932	149503932	+	RNA	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr7:149503932C>T	ENST00000378016.2	+	0	8756							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)			ATAGAGTGTACGGGCTTCTGC	0.657																																					p.T2919M		.											.	.	.	0			c.C8756T						.						23	32	29					7																	149503932		1892	4088	5980			23145	exon60			AGTGTACGGGCTT	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.149503932C>T		61	0		67	4	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149503932	C	T	149503932	1	4	1	0	1	0	0	0	0	0	0	0	15236	547	19	1		1	SSPO	7	149503932	RNA	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	980323	149503932	9634731	75	75											
GALNTL5	168391	hgsc.bcm.edu	37	7	151680104	151680104	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr7:151680104G>A	ENST00000392800.2	+	4	656	c.402G>A	c.(400-402)ccG>ccA	p.P134P	GALNTL5_ENST00000431418.2_Silent_p.P134P	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	134	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)		CCCGCCTCCCGACTGCCAGCA	0.448																																					p.P134P		.											GALNTL5,NS,carcinoma,0,1	GALNTL5	0	0			c.G402A						.						125	117	120					7																	151680104		2203	4300	6503	SO:0001819	synonymous_variant	168391	exon4			CCTCCCGACTGCC	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.402G>A	7.37:g.151680104G>A		57	0		64	3	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Silent	SNP	ENST00000392800.2	37	CCDS5929.1																																																																																			.		0.448	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		A	151680104	G	A	151680104	2	1	1	1	0	0	0	0	0	0	0	1	6249	1045	37	1		1	GALNTL5	7	151680104	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	2176172	151680104	7458559	76	76											
PCM1	5108	broad.mit.edu	37	8	17797227	17797227	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr8:17797227G>A	ENST00000519253.1	+	6	891	c.640G>A	c.(640-642)Gat>Aat	p.D214N	PCM1_ENST00000524226.1_Missense_Mutation_p.D214N|PCM1_ENST00000518537.1_Missense_Mutation_p.D214N|PCM1_ENST00000325083.8_Missense_Mutation_p.D214N			Q15154	PCM1_HUMAN	pericentriolar material 1	214					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)		TCAAATTCGCGATTATATTAC	0.328			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																p.D214N				Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	.	PCM1	120	0			c.G640A						.						42	35	37					8																	17797227		1799	4052	5851	SO:0001583	missense	5108	exon6			ATTCGCGATTATA		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.640G>A	8.37:g.17797227G>A	ENSP00000431099:p.Asp214Asn	106	0		101	4	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	G	23.8	4.461693	0.84425	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.33216	3.13;2.34;1.5;1.42;3.14;2.89	5.36	5.36	0.76844	.	0.145914	0.64402	D	0.000009	T	0.34308	0.0893	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.60575	0.988;0.964;0.988;0.988	P;P;P;P	0.51016	0.656;0.54;0.656;0.656	T	0.04255	-1.0965	10	0.46703	T	0.11	-9.0456	18.4529	0.90710	0.0:0.0:1.0:0.0	.	214;214;214;214	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	N	214	ENSP00000327077:D214N;ENSP00000428131:D214N;ENSP00000428123:D214N;ENSP00000429941:D214N;ENSP00000431099:D214N;ENSP00000430521:D214N	ENSP00000327077:D214N	D	+	1	0	PCM1	17841507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.673000	0.90976	0.650000	0.86243	GAT	.		0.328	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		A	17797227	G	A	17797227	3	1	1	1	0	0	0	0	1	0	0	0	11623	1058	37	1	654	1	PCM1	8	17797227	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		17797227	128566795	77	77											
PIWIL2	55124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	22145050	22145050	+	Silent	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr8:22145050G>T	ENST00000454009.2	+	7	1262	c.753G>T	c.(751-753)gtG>gtT	p.V251V	PIWIL2_ENST00000356766.6_Silent_p.V251V|PIWIL2_ENST00000521356.1_Silent_p.V251V	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	251					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCCCCAATGTGGAGTGCAAAA	0.453											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V251V		.											.	.	.	0			c.G753T						.						148	122	131					8																	22145050		2203	4300	6503	SO:0001819	synonymous_variant	55124	exon7			CAATGTGGAGTGC	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.753G>T	8.37:g.22145050G>T		47	0	753	61	6	NM_001135721	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	CCDS6029.1																																																																																			.		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			T	22145050	G	T	22145050	2	4	1	1	0	0	0	0	0	0	0	1	11997	1335	47	3		3	PIWIL2	8	22145050	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	4347823	22145050	124218972	78	78											
PBK	55872	hgsc.bcm.edu	37	8	27690596	27690596	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr8:27690596T>A	ENST00000301905.4	-	2	498	c.35A>T	c.(34-36)aAa>aTa	p.K12I	PBK_ENST00000522944.1_Missense_Mutation_p.K12I	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	12					mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K12R(2)		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)		TTCTGATAATTTGCTTGGTGT	0.308																																					p.K12I		.											PBK_ENST00000301905,colon,carcinoma,0,2	PBK_ENST00000301905	0	2	Substitution - Missense(2)	large_intestine(2)	c.A35T						.						138	125	129					8																	27690596		2203	4300	6503	SO:0001583	missense	55872	exon2			GATAATTTGCTTG	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.35A>T	8.37:g.27690596T>A	ENSP00000301905:p.Lys12Ile	36	0		35	2	NM_018492	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837914	0.71373	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	D;D	0.86164	-1.95;-2.08	5.4	4.24	0.50183	Protein kinase-like domain (1);	0.141665	0.64402	D	0.000007	D	0.82683	0.5090	M	0.68952	2.095	0.35602	D	0.807957	B;B	0.29481	0.245;0.055	B;B	0.20577	0.03;0.02	T	0.81929	-0.0708	10	0.42905	T	0.14	-16.2635	7.6962	0.28596	0.0:0.0995:0.0:0.9005	.	12;12	B4DX68;Q96KB5	.;TOPK_HUMAN	I	12	ENSP00000301905:K12I;ENSP00000428489:K12I	ENSP00000301905:K12I	K	-	2	0	PBK	27746515	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	1.551000	0.36233	0.982000	0.38575	0.533000	0.62120	AAA	.		0.308	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		A	27690596	T	A	27690596	3	1	1	1	0	0	0	0	1	0	0	0	11527	1841	64	5	961	5	PBK	8	27690596	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	5545546	27690596	118673426	79	79											
C8orf34	116328	broad.mit.edu;bcgsc.ca	37	8	69621314	69621314	+	Splice_Site	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr8:69621314G>A	ENST00000539993.1	+	9	1618	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	C8orf34_ENST00000518698.1_Splice_Site_p.D443N|C8orf34_ENST00000325233.3_Splice_Site_p.D101N|C8orf34_ENST00000337103.4_Splice_Site_p.D332N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	357										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)			AGATTCATTCGGTAAGTTTTA	0.343																																					p.D443N													.	C8orf34	170	0			c.G1327A						.						63	60	61					8																	69621314		2203	4299	6502	SO:0001630	splice_region_variant	116328	exon9			TCATTCGGTAAGT	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.1069+1G>A	8.37:g.69621314G>A		39	0		34	4	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Splice_Site	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	9.651	1.141589	0.21205	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.46063	0.9;0.93;0.93;0.88	5.2	5.2	0.72013	.	0.975127	0.08428	N	0.947302	T	0.33000	0.0848	L	0.29908	0.895	0.30488	N	0.771617	P	0.38420	0.63	B	0.32928	0.155	T	0.16600	-1.0397	9	.	.	.	-3.7292	14.5749	0.68238	0.0:0.0:1.0:0.0	.	357	Q49A92	CH034_HUMAN	N	443;357;332;101	ENSP00000427820:D443N;ENSP00000438159:D357N;ENSP00000337174:D332N;ENSP00000319532:D101N	.	D	+	1	0	C8orf34	69783868	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	2.882000	0.48546	2.572000	0.86782	0.655000	0.94253	GAT	.		0.343	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Missense_Mutation	A	69621314	G	A	69621314	5	1	1	1	0	0	0	0	0	0	1	0	2429	1130	39	1	1024	1	C8orf34	8	69621314	Splice_Site	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	41930718	69621314	76742708	80	80											
NBN	4683	broad.mit.edu	37	8	90983510	90983510	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr8:90983510G>T	ENST00000265433.3	-	6	747	c.593C>A	c.(592-594)cCa>cAa	p.P198Q	NBN_ENST00000409330.1_Missense_Mutation_p.P116Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	198	Mediates interaction with SP100. {ECO:0000250}.				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)			ATCAAGAGGTGGGTAAAAACT	0.299								Homologous recombination																													p.P198Q													.	NBN	86	0			c.C593A						.						45	46	46					8																	90983510		2201	4294	6495	SO:0001583	missense	4683	exon6			AGAGGTGGGTAAA	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.593C>A	8.37:g.90983510G>T	ENSP00000265433:p.Pro198Gln	158	0		173	5	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382702	0.82792	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000519426;ENST00000517772	T;T;T;T	0.79940	-1.32;-1.11;1.31;-1.14	5.84	5.84	0.93424	.	0.050989	0.85682	D	0.000000	D	0.91633	0.7356	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92172	0.5744	10	0.87932	D	0	-17.6889	20.1346	0.98019	0.0:0.0:1.0:0.0	.	198;198	A6H8Y5;O60934	.;NBN_HUMAN	Q	198;116;198;110;116	ENSP00000265433:P198Q;ENSP00000386924:P116Q;ENSP00000430983:P110Q;ENSP00000428717:P116Q	ENSP00000265433:P198Q	P	-	2	0	NBN	91052686	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.987000	0.76206	2.765000	0.95021	0.655000	0.94253	CCA	.		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		T	90983510	G	T	90983510	3	4	1	1	0	0	0	0	1	0	0	0	10229	1348	47	3	1715	3	NBN	8	90983510	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	21362196	90983510	55380512	81	81											
PDP1	54704	broad.mit.edu;ucsc.edu	37	8	94935050	94935050	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr8:94935050G>A	ENST00000297598.4	+	2	1032	c.763G>A	c.(763-765)Gat>Aat	p.D255N	PDP1_ENST00000520728.1_Missense_Mutation_p.D255N|PDP1_ENST00000517764.1_Missense_Mutation_p.D255N|PDP1_ENST00000396200.3_Missense_Mutation_p.D280N	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	255					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						GCAAGTTGGTGATCCTAATTC	0.473																																					p.D280N													.	PDP1	97	0			c.G838A						.						121	122	122					8																	94935050		2203	4300	6503	SO:0001583	missense	54704	exon3			GTTGGTGATCCTA	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.763G>A	8.37:g.94935050G>A	ENSP00000297598:p.Asp255Asn	13	0		29	4	NM_001161780	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062297	0.36373	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.5	5.5	0.81552	Protein phosphatase 2C-like (5);	0.146062	0.64402	N	0.000011	T	0.19886	0.0478	L	0.29908	0.895	0.80722	D	1	P;P	0.52170	0.951;0.905	P;P	0.48166	0.569;0.569	T	0.01657	-1.1302	10	0.19147	T	0.46	-17.3182	19.7663	0.96342	0.0:0.0:1.0:0.0	.	306;255	B4DYX8;Q9P0J1	.;PDP1_HUMAN	N	255;255;280;255	ENSP00000297598:D255N;ENSP00000428317:D255N;ENSP00000379503:D280N;ENSP00000430380:D255N	ENSP00000297598:D255N	D	+	1	0	PDP1	95004226	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.679000	0.74513	2.741000	0.93983	0.650000	0.86243	GAT	.		0.473	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		A	94935050	G	A	94935050	3	1	1	1	0	0	0	0	1	0	0	0	11724	1290	45	3	946	3	PDP1	8	94935050	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	3951540	94935050	51428972	82	82											
SCRIB	23513	broad.mit.edu	37	8	144887183	144887183	+	Splice_Site	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr8:144887183C>T	ENST00000320476.3	-	20	2678	c.2672G>A	c.(2671-2673)gGc>gAc	p.G891D	SCRIB_ENST00000377533.3_Splice_Site_p.G810D|SCRIB_ENST00000356994.2_Splice_Site_p.G891D	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	891	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)			GACGAAGATGCCCTGCAGGGG	0.721																																					p.G891D	Pancreas(51;966 1133 10533 14576 29674)												.	SCRIB	192	0			c.G2672A						.						9	10	9					8																	144887183		2165	4251	6416	SO:0001630	splice_region_variant	23513	exon20			AAGATGCCCTGCA	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.2671-1G>A	8.37:g.144887183C>T		15	0		25	3	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Splice_Site	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252149	0.80135	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.35236	1.32;1.32;1.32	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.60637	0.2284	M	0.76328	2.33	0.47949	D	0.999551	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66909	-0.5804	9	0.87932	D	0	.	15.7543	0.78013	0.0:1.0:0.0:0.0	.	891;891	Q14160;Q14160-3	SCRIB_HUMAN;.	D	891;891;810;260	ENSP00000349486:G891D;ENSP00000322938:G891D;ENSP00000366756:G810D	ENSP00000322938:G891D	G	-	2	0	SCRIB	144959171	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	5.359000	0.66074	2.031000	0.59945	0.442000	0.29010	GGC	.		0.721	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	Missense_Mutation	T	144887183	C	T	144887183	5	4	1	1	0	0	0	0	0	0	1	0	13982	753	26	3	2367	3	SCRIB	8	144887183	Splice_Site	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	49952133	144887183	1476839	83	83											
KCNV2	169522	broad.mit.edu	37	9	2718784	2718784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr9:2718784C>T	ENST00000382082.3	+	1	1283	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	349					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)		GCTCTACCTTCAGCTGCTGCT	0.682																																					p.Q349X													.	KCNV2	72	0			c.C1045T						.						65	66	66					9																	2718784		2203	4293	6496	SO:0001587	stop_gained	169522	exon1			TACCTTCAGCTGC	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.1045C>T	9.37:g.2718784C>T	ENSP00000371514:p.Gln349*	36	0		51	3	NM_133497	Q5T6X0	Nonsense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.406786|8.406786	0.98799|0.98799	.|.	.|.	ENSG00000168263|ENSG00000168263	ENST00000382082|ENST00000423608	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.109916|.	0.64402|.	D|.	0.000005|.	.|T	.|0.78654	.|0.4317	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81267	.|-0.1010	.|4	0.62326|0.66056	D|D	0.03|0.02	.|.	18.8074|18.8074	0.92043|0.92043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	349|299	.|.	ENSP00000371514:Q349X|ENSP00000409635:S299L	Q|S	+|+	1|2	0|0	KCNV2|KCNV2	2708784|2708784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	5.920000|5.920000	0.70017|0.70017	2.434000|2.434000	0.82447|0.82447	0.563000|0.563000	0.77884|0.77884	CAG|TCA	.		0.682	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		T	2718784	C	T	2718784	4	4	1	1	0	0	0	0	0	1	0	0	8122	827	29	3	1047	3	KCNV2	9	2718784	Nonsense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09		2718784	138494647	84	84											
TTF1	7270	hgsc.bcm.edu	37	9	135277219	135277219	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr9:135277219G>T	ENST00000334270.2	-	2	1029	c.990C>A	c.(988-990)aaC>aaA	p.N330K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	330	Poly-Lys.				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)		TCTTAGACTTGTTTTTATAAG	0.507																																					p.N330K		.											TTF1,NS,lymphoid_neoplasm,0,1	TTF1	0	0			c.C990A						.						89	93	92					9																	135277219		2203	4300	6503	SO:0001583	missense	7270	exon2			AGACTTGTTTTTA	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.990C>A	9.37:g.135277219G>T	ENSP00000333920:p.Asn330Lys	22	1		40	10	NM_007344	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.530365	0.00951	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09255	3.0	2.75	-2.9	0.05648	.	.	.	.	.	T	0.04407	0.0121	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.44605	-0.9317	9	0.05436	T	0.98	.	1.1405	0.01764	0.1334:0.1855:0.3099:0.3712	.	330	Q15361	TTF1_HUMAN	K	330	ENSP00000333920:N330K	ENSP00000245588:N330K	N	-	3	2	TTF1	134267040	0.003000	0.15002	0.023000	0.16930	0.228000	0.25075	-1.803000	0.01740	-0.683000	0.05190	0.467000	0.42956	AAC	.		0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		T	135277219	G	T	135277219	3	4	1	1	0	0	0	0	1	0	0	0	16767	1368	48	3	1767	3	TTF1	9	135277219	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	132558435	135277219	5936212	85	85											
CEL	1056	hgsc.bcm.edu	37	9	135947131	135947131	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr9:135947131C>A	ENST00000372080.4	+	11	2267	c.2251C>A	c.(2251-2253)Cct>Act	p.P751T	CEL_ENST00000351304.7_Missense_Mutation_p.P682T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	748					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AGCTCAGATGCCTGCAGTCAT	0.632																																					p.P751T		.											CEL,caecum,carcinoma,0,1	CEL	0	0			c.C2251A						.						19	22	21					9																	135947131		1876	4088	5964	SO:0001583	missense	1056	exon11			CAGATGCCTGCAG	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2251C>A	9.37:g.135947131C>A	ENSP00000361151:p.Pro751Thr	51	0		48	2	NM_001807	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.821406	0.50633	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.71103	-0.3;-0.54	2.8	1.85	0.25348	.	0.163089	0.29293	N	0.012580	T	0.52964	0.1767	N	0.24115	0.695	0.23401	N	0.997752	B	0.20550	0.046	B	0.15870	0.014	T	0.51702	-0.8672	10	0.87932	D	0	.	8.8881	0.35416	0.2247:0.7752:0.0:0.0	.	748	P19835	CEL_HUMAN	T	751;682;717	ENSP00000361151:P751T;ENSP00000342217:P682T	ENSP00000304021:P717T	P	+	1	0	CEL	134936952	0.986000	0.35501	0.864000	0.33941	0.077000	0.17291	1.039000	0.30266	0.711000	0.32018	0.460000	0.39030	CCT	.		0.632	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			A	135947131	C	A	135947131	3	1	1	1	0	0	0	0	1	0	0	0	3216	739	26	3	2293	3	CEL	9	135947131	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	669912	135947131	5266300	86	86											
ASCC1	51008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	73956736	73956736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr10:73956736G>A	ENST00000342444.4	-	6	507	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	ASCC1_ENST00000317168.6_Nonsense_Mutation_p.Q108*|ASCC1_ENST00000394919.1_Nonsense_Mutation_p.Q108*|ASCC1_ENST00000545550.1_Nonsense_Mutation_p.Q130*|ASCC1_ENST00000394915.3_Nonsense_Mutation_p.Q136*|ASCC1_ENST00000317126.4_Nonsense_Mutation_p.Q108*	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	136	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TTTCGATGCTGGCCAGTGATT	0.443																																					p.Q136X		.											.	.	.	0			c.C406T						.						73	69	71					10																	73956736		2202	4299	6501	SO:0001587	stop_gained	51008	exon6			GATGCTGGCCAGT	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.406C>T	10.37:g.73956736G>A	ENSP00000339404:p.Gln136*	75	0		108	11	NM_001198799	Q5SW06|Q5SW07|Q96EI8|Q9Y307	Nonsense_Mutation	SNP	ENST00000342444.4	37	CCDS55713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.179589|6.179589	0.97352|0.97352	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000486689|ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000530431;ENST00000531048;ENST00000530461;ENST00000527593;ENST00000524829	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.313548	.|0.36815	.|N	.|0.002391	T|.	0.49915|.	0.1585|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36383|.	-0.9750|.	3|.	.|0.05620	.|T	.|0.96	.|.	20.0666|20.0666	0.97706|0.97706	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	39|108;136;108;108;23;108;130;136;23;42;69;108;108	.|.	.|ENSP00000320461:Q108X	P|Q	-|-	2|1	0|0	ASCC1|ASCC1	73626742|73626742	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	4.674000|4.674000	0.61612|0.61612	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	CCA|CAG	.		0.443	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		A	73956736	G	A	73956736	4	1	1	1	0	0	0	0	0	1	0	0	1032	1357	47	3	775	3	ASCC1	10	73956736	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		73956736	61578011	87	87											
NFKB2	4791	hgsc.bcm.edu	37	10	104157319	104157319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr10:104157319G>T	ENST00000369966.3	+	8	788	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	NFKB2_ENST00000189444.6_Nonsense_Mutation_p.E180*|NFKB2_ENST00000428099.1_Nonsense_Mutation_p.E180*	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	180	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)	AGAGGCCAAAGAACTGAAGAA	0.587			T	IGH@	B-NHL																																p.E180X		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	NFKB2,NS,carcinoma,0,1	NFKB2	0	0			c.G538T						.						157	190	179					10																	104157319		2119	4227	6346	SO:0001587	stop_gained	4791	exon8			GCCAAAGAACTGA	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.538G>T	10.37:g.104157319G>T	ENSP00000358983:p.Glu180*	27	0		33	2	NM_001077494	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Nonsense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386385	0.95967	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	18.2059	0.89854	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	ENSP00000189444:E180X	E	+	1	0	NFKB2	104147309	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.557000	0.98129	2.291000	0.77112	0.561000	0.74099	GAA	.		0.587	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			T	104157319	G	T	104157319	4	4	1	1	0	0	0	0	0	1	0	0	10415	943	33	3	564	3	NFKB2	10	104157319	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	30200583	104157319	31377428	88	88											
TRUB1	142940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	116734973	116734973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr10:116734973G>A	ENST00000298746.3	+	8	946	c.885G>A	c.(883-885)tgG>tgA	p.W295*		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	295					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)		AAGACAAATGGACAATTGATG	0.433																																					p.W295X		.											TRUB1,NS,carcinoma,0,1	TRUB1	0	0			c.G885A						.						173	156	161					10																	116734973		2203	4300	6503	SO:0001587	stop_gained	142940	exon8			CAAATGGACAATT	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.885G>A	10.37:g.116734973G>A	ENSP00000298746:p.Trp295*	54	0		60	8	NM_139169	B2R716|Q53ES2	Nonsense_Mutation	SNP	ENST00000298746.3	37	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528866	0.96446	.	.	ENSG00000165832	ENST00000298746	.	.	.	5.56	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-9.347	13.0117	0.58735	0.0749:0.0:0.9251:0.0	.	.	.	.	X	295	.	ENSP00000298746:W295X	W	+	3	0	TRUB1	116724963	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.233000	0.89799	1.485000	0.48380	0.561000	0.74099	TGG	.		0.433	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		A	116734973	G	A	116734973	4	1	1	1	0	0	0	0	0	1	0	0	16650	1183	41	3	915	3	TRUB1	10	116734973	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	12577654	116734973	18799774	89	89											
CPXM2	119587	hgsc.bcm.edu	37	10	125601975	125601975	+	Missense_Mutation	SNP	G	G	T	rs17679897	byFrequency	TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr10:125601975G>T	ENST00000241305.3	-	4	697	c.543C>A	c.(541-543)gaC>gaA	p.D181E	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	181	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)		ACCACGCTCCGTCATAAAAAT	0.443																																					p.D181E		.											CPXM2,NS,carcinoma,0,1	CPXM2	0	0			c.C543A						.						61	59	60					10																	125601975		2203	4300	6503	SO:0001583	missense	119587	exon4			CGCTCCGTCATAA	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.543C>A	10.37:g.125601975G>T	ENSP00000241305:p.Asp181Glu	36	0		52	3	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297835	0.40694	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.98221	-4.8	5.24	-10.5	0.00291	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	M	0.65677	2.01	0.80722	D	1	P	0.38223	0.623	B	0.41813	0.367	D	0.89291	0.3619	10	0.87932	D	0	-10.9178	20.2883	0.98536	0.3391:0.0:0.6609:0.0	.	181	Q8N436	CPXM2_HUMAN	E	181;14;181	ENSP00000241305:D181E	ENSP00000241305:D181E	D	-	3	2	CPXM2	125591965	0.000000	0.05858	0.077000	0.20336	0.221000	0.24807	-1.636000	0.02016	-2.422000	0.00563	-1.532000	0.00920	GAC	.		0.443	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		T	125601975	G	T	125601975	3	4	1	1	0	0	0	0	1	0	0	0	3845	1136	40	2	1771	2	CPXM2	10	125601975	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	8867002	125601975	9932772	90	90											
DOCK1	1793	hgsc.bcm.edu;bcgsc.ca	37	10	128817096	128817096	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr10:128817096C>T	ENST00000280333.6	+	13	1370	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S	RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	421					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)		GATAATCATGCCTGGTAAGAA	0.527																																					p.P421S		.											.	.	.	0			c.C1261T						.						44	47	46					10																	128817096		1953	4146	6099	SO:0001583	missense	1793	exon13			ATCATGCCTGGTA	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.1261C>T	10.37:g.128817096C>T	ENSP00000280333:p.Pro421Ser	40	0		67	4	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	C	25.4	4.637835	0.87760	.	.	ENSG00000150760	ENST00000280333	T	0.15256	2.44	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.63888	-0.6535	10	0.87932	D	0	.	17.0227	0.86438	0.0:1.0:0.0:0.0	.	421;421	B2RUU3;Q14185	.;DOCK1_HUMAN	S	421	ENSP00000280333:P421S	ENSP00000280333:P421S	P	+	1	0	DOCK1	128707086	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.578000	0.82498	2.226000	0.72624	0.557000	0.71058	CCT	.		0.527	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		T	128817096	C	T	128817096	3	4	1	1	0	0	0	0	1	0	0	0	4698	739	26	3	1311	3	DOCK1	10	128817096	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	3215121	128817096	6717651	91	91											
CHID1	66005	hgsc.bcm.edu	37	11	884165	884165	+	Missense_Mutation	SNP	C	C	A	rs143837907		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:884165C>A	ENST00000449825.1	-	9	1062	c.706G>T	c.(706-708)Gac>Tac	p.D236Y	CHID1_ENST00000436108.2_Missense_Mutation_p.D236Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D205Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D261Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D261Y|CHID1_ENST00000336845.5_Missense_Mutation_p.D261Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D266Y|CHID1_ENST00000323578.8_Missense_Mutation_p.D236Y|CHID1_ENST00000526714.1_Intron	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	236					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)		CCCAGCTGGTCGGTCCTGTAA	0.607																																					p.D261Y	Pancreas(117;992 2327 5172 41921)	.											CHID1,NS,carcinoma,0,1	CHID1	0	0			c.G781T						.						112	77	88					11																	884165		2203	4299	6502	SO:0001583	missense	66005	exon10			GCTGGTCGGTCCT	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.706G>T	11.37:g.884165C>A	ENSP00000391255:p.Asp236Tyr	26	0		36	3	NM_001142676	B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511060	0.27036	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859	T;T;T;T;T;T;T;T;T	0.43294	3.35;3.35;3.35;3.35;0.95;3.35;3.35;3.35;1.55	5.32	2.3	0.28687	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.347524	0.32002	N	0.006740	T	0.47060	0.1425	L	0.46157	1.445	0.35514	D	0.800894	P;P;D;D;P	0.59767	0.818;0.818;0.985;0.986;0.577	B;B;P;P;B	0.58391	0.331;0.331;0.838;0.788;0.251	T	0.55535	-0.8126	10	0.72032	D	0.01	-17.3777	7.1449	0.25577	0.0:0.5363:0.3086:0.1551	.	297;266;205;261;236	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	Y	266;236;261;236;205;261;261;236;140	ENSP00000324821:D266Y;ENSP00000391255:D236Y;ENSP00000398722:D261Y;ENSP00000325055:D236Y;ENSP00000416034:D205Y;ENSP00000435503:D261Y;ENSP00000338838:D261Y;ENSP00000388156:D236Y;ENSP00000434651:D140Y	ENSP00000324821:D266Y	D	-	1	0	CHID1	874165	0.039000	0.19947	0.474000	0.27266	0.320000	0.28249	0.248000	0.18198	0.199000	0.20427	-0.175000	0.13238	GAC	.		0.607	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		A	884165	C	A	884165	3	1	1	1	0	0	0	0	1	0	0	0	3352	884	31	2	495	2	CHID1	11	884165	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09		884165	134122351	92	92											
MUC6	4588	bcgsc.ca	37	11	1016916	1016916	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:1016916A>G	ENST00000421673.2	-	31	5935	c.5885T>C	c.(5884-5886)cTa>cCa	p.L1962P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1962	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)		GGGTGTGGGTAGCCTGCTGCT	0.577																																					p.L1962P													.	MUC6	408	0			c.T5885C						.						729	746	740					11																	1016916		2203	4295	6498	SO:0001583	missense	4588	exon31			GTGGGTAGCCTGC	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.5885T>C	11.37:g.1016916A>G	ENSP00000406861:p.Leu1962Pro	213	3		292	14	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	2.952	-0.216493	0.06101	.	.	ENSG00000184956	ENST00000421673	T	0.13538	2.58	3.12	1.08	0.20341	.	.	.	.	.	T	0.03520	0.0101	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41627	-0.9498	9	0.32370	T	0.25	.	8.7677	0.34713	0.1288:0.0:0.8712:0.0	.	1962	Q6W4X9	MUC6_HUMAN	P	1962	ENSP00000406861:L1962P	ENSP00000406861:L1962P	L	-	2	0	MUC6	1006916	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.846000	0.04336	0.550000	0.28991	-1.351000	0.01236	CTA	.		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016916	A	G	1016916	3	3	1	1	0	0	0	0	1	0	0	0	10018	420	15	4	1446	4	MUC6	11	1016916	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	132751	1016916	133989600	93	93											
MUC2	4583	bcgsc.ca	37	11	1092845	1092845	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:1092845C>T	ENST00000441003.2	+	30	4691	c.4664C>T	c.(4663-4665)aCa>aTa	p.T1555I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1556I|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)	CCCACCGGCACACAGACCCCA	0.632																																					p.T1555I													.	MUC2	614	0			c.C4664T						.						94	126	114					11																	1092845		1882	3484	5366	SO:0001583	missense	4583	exon30			CCGGCACACAGAC	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.4664C>T	11.37:g.1092845C>T	ENSP00000415183:p.Thr1555Ile	325	3		628	17	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.039	-0.197860	0.06219	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.58;2.91	1.59	1.59	0.23543	.	7739.210000	0.00610	U	0.000401	T	0.10508	0.0257	.	.	.	0.09310	N	1	P	0.34699	0.464	B	0.24269	0.052	T	0.33369	-0.9871	9	0.42905	T	0.14	.	10.2908	0.43594	0.0:1.0:0.0:0.0	.	1555	E7EUV1	.	I	1555;1556	ENSP00000415183:T1555I;ENSP00000351956:T1556I	ENSP00000351956:T1556I	T	+	2	0	MUC2	1082845	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	0.112000	0.15479	0.906000	0.36621	0.109000	0.15622	ACA	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092845	C	T	1092845	3	4	1	1	0	0	0	0	1	0	0	0	10013	478	17	3	4782	3	MUC2	11	1092845	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	75929	1092845	133913671	94	94											
MUC5B	727897	hgsc.bcm.edu	37	11	1255536	1255536	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:1255536G>T	ENST00000529681.1	+	20	2536		c.e20+1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						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)		CGTGGGCTGTGTGAGTTCCAT	0.667																																					.		.											.	.	.	0			c.2478+1G>T						.						10	12	11					11																	1255536		2005	4157	6162	SO:0001630	splice_region_variant	727897	exon20			GGCTGTGTGAGTT	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.2478+1G>T	11.37:g.1255536G>T		38	0		62	5	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Splice_Site	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	15.00	2.702433	0.48307	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1263	0.81397	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5B	1212112	1.000000	0.71417	0.954000	0.39281	0.426000	0.31534	7.295000	0.78780	2.122000	0.65172	0.457000	0.33378	.	.		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	Intron	T	1255536	G	T	1255536	5	4	1	1	0	0	0	0	0	0	1	0	10017	1391	48	3	2566	3	MUC5B	11	1255536	Splice_Site	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	162691	1255536	133750980	95	95											
OR51A4	401666	broad.mit.edu	37	11	4967834	4967834	+	Missense_Mutation	SNP	C	C	G	rs201205025	byFrequency	TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:4967834C>G	ENST00000380373.2	-	1	522	c.497G>C	c.(496-498)aGa>aCa	p.R166T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	166						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)		TCTCAAGTTTCTTAAAGTGAA	0.413													.|||	12	0.00239617	0.003	0.0029	5008	,	,		24981	0		0.003	False		,,,				2504	0.0031				p.R166T													OR51A4,colon,carcinoma,-1,1	OR51A4	73	0			c.G497C						.						212	198	203					11																	4967834		2177	4245	6422	SO:0001583	missense	401666	exon1			AAGTTTCTTAAAG	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.497G>C	11.37:g.4967834C>G	ENSP00000369731:p.Arg166Thr	54	1		70	3	NM_001005329		Missense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	9.411	1.080491	0.20309	.	.	ENSG00000205497	ENST00000380373	T	0.71817	-0.6	3.44	-3.66	0.04489	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59046	0.2165	L	0.41027	1.25	0.09310	N	1	B	0.23249	0.082	B	0.27608	0.081	T	0.52041	-0.8628	9	0.66056	D	0.02	.	9.2359	0.37466	0.0:0.303:0.0:0.697	.	166	Q8NGJ6	O51A4_HUMAN	T	166	ENSP00000369731:R166T	ENSP00000369731:R166T	R	-	2	0	OR51A4	4924410	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.905000	0.04075	-1.059000	0.03193	0.479000	0.44913	AGA	.		0.413	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		G	4967834	C	G	4967834	3	3	1	1	0	0	0	0	1	0	0	0	11126	913	32	5	446	5	OR51A4	11	4967834	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	3712298	4967834	130038682	96	96											
SLC43A3	29015	broad.mit.edu	37	11	57177487	57177487	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:57177487G>C	ENST00000395123.2	-	12	1472	c.1168C>G	c.(1168-1170)Ctc>Gtc	p.L390V	SLC43A3_ENST00000529554.1_Missense_Mutation_p.L390V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.L390V|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.L34V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.L390V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.L403V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	390					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AGGTACTGGAGAGGGAGGATG	0.642																																					p.L390V													.	SLC43A3	54	0			c.C1168G						.						101	78	86					11																	57177487		2201	4296	6497	SO:0001583	missense	29015	exon12			ACTGGAGAGGGAG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1168C>G	11.37:g.57177487G>C	ENSP00000378555:p.Leu390Val	31	0		55	3	NM_017611	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355579	0.41700	.	.	ENSG00000254979;ENSG00000134802;ENSG00000134802;ENSG00000134802;ENSG00000134802;ENSG00000134802	ENST00000529411;ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	D;T;T;T;T;T	0.81996	-1.56;0.25;0.25;0.25;0.25;0.25	5.65	4.69	0.59074	Major facilitator superfamily domain, general substrate transporter (1);	0.133678	0.51477	D	0.000089	D	0.84813	0.5555	L	0.55834	1.745	0.41843	D	0.990136	P;P	0.41848	0.701;0.763	P;P	0.54706	0.759;0.479	T	0.83029	-0.0163	10	0.39692	T	0.17	-37.2769	8.7871	0.34827	0.0:0.162:0.6702:0.1678	.	403;390	E7EQD2;Q8NBI5	.;S43A3_HUMAN	V	34;390;390;390;390;403	ENSP00000431536:L34V;ENSP00000378555:L390V;ENSP00000378556:L390V;ENSP00000337561:L390V;ENSP00000436254:L390V;ENSP00000434515:L403V	ENSP00000431536:L34V	L	-	1	0	RP11-872D17.8;SLC43A3	56934063	0.999000	0.42202	0.945000	0.38365	0.189000	0.23516	3.225000	0.51246	2.656000	0.90262	0.655000	0.94253	CTC	.		0.642	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		C	57177487	G	C	57177487	3	2	1	1	0	0	0	0	1	0	0	0	14679	942	33	5	319	5	SLC43A3	11	57177487	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	52209653	57177487	77829029	97	97											
FEN1	746	ucsc.edu	37	11	61563066	61563066	+	5'Flank	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:61563066G>A	ENST00000537328.1	-	0	0				FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank|FEN1_ENST00000305885.2_Missense_Mutation_p.G78D	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											ATGGAGAACGGCATCAAGCCC	0.602																																					p.G78D													.	FEN1	15	0			c.G233A						.						71	65	67					11																	61563066		2202	4299	6501	SO:0001631	upstream_gene_variant	2237	exon2			AGAACGGCATCAA		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 10"	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61563066G>A	Exception_encountered	21	0		42	4	NM_004111	A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038861	0.75617	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.54071	0.59;0.59	5.44	5.44	0.79542	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82250	-0.0550	10	0.87932	D	0	-20.2556	19.6661	0.95893	0.0:0.0:1.0:0.0	.	78	P39748	FEN1_HUMAN	D	78	ENSP00000305480:G78D;ENSP00000445692:G78D	ENSP00000305480:G78D	G	+	2	0	FEN1	61319642	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	9.205000	0.95048	2.724000	0.93272	0.561000	0.74099	GGC	.		0.602	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206		A	61563066	G	A	61563066	1	1	1	0	1	0	0	0	0	0	0	0	5834	1203	42	3		3	FEN1	11	61563066	5'Flank	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	4385579	61563066	73443450	98	98											
MAP3K11	4296	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	65373425	65373425	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:65373425C>G	ENST00000530153.1	-	7	1481	c.960G>C	c.(958-960)caG>caC	p.Q320H	MAP3K11_ENST00000309100.3_Missense_Mutation_p.Q577H|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_5'UTR					mitogen-activated protein kinase kinase kinase 11									p.Q577H(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						ACCTCCCATTCTGGGCTTCCC	0.622																																					p.Q577H		.											MAP3K11,NS,carcinoma,0,1	MAP3K11	0	1	Substitution - Missense(1)	lung(1)	c.G1731C						.						27	30	29					11																	65373425		2201	4297	6498	SO:0001583	missense	4296	exon7			CCCATTCTGGGCT		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.960G>C	11.37:g.65373425C>G	ENSP00000433886:p.Gln320His	30	0		62	5	NM_002419		Missense_Mutation	SNP	ENST00000530153.1	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.973807	0.74246	.	.	ENSG00000173327	ENST00000309100;ENST00000530153	T;T	0.74421	-0.76;-0.84	5.24	5.24	0.73138	.	0.537461	0.17679	N	0.165710	T	0.80025	0.4548	L	0.29908	0.895	0.41414	D	0.987752	D;D	0.69078	0.997;0.981	D;P	0.81914	0.995;0.827	T	0.81369	-0.0964	10	0.59425	D	0.04	.	16.3154	0.82918	0.0:1.0:0.0:0.0	.	84;577	B3KQY4;Q16584	.;M3K11_HUMAN	H	577;320	ENSP00000309597:Q577H;ENSP00000433886:Q320H	ENSP00000309597:Q577H	Q	-	3	2	MAP3K11	65130001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.008000	0.29872	2.465000	0.83290	0.491000	0.48974	CAG	.		0.622	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			G	65373425	C	G	65373425	3	3	1	1	0	0	0	0	1	0	0	0	9283	912	32	5	828	5	MAP3K11	11	65373425	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	3810359	65373425	69633091	99	99											
CCDC15	80071	hgsc.bcm.edu	37	11	124862504	124862504	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr11:124862504G>T	ENST00000344762.5	+	10	2319	c.2060G>T	c.(2059-2061)aGa>aTa	p.R687I	CCDC15_ENST00000529051.1_Missense_Mutation_p.R687I	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	687						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)		AGAGAAGAAAGAGTGAGAGAA	0.348																																					p.R687I		.											.	.	.	0			c.G2060T						.						62	56	58					11																	124862504		1819	4085	5904	SO:0001583	missense	80071	exon10			AAGAAAGAGTGAG	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.2060G>T	11.37:g.124862504G>T	ENSP00000341684:p.Arg687Ile	48	0		82	4	NM_025004	Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457590	0.43634	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.36340	1.26;1.26	4.08	-2.28	0.06826	.	1.500960	0.04408	N	0.365584	T	0.31451	0.0797	L	0.55481	1.735	0.09310	N	1	B	0.32829	0.386	B	0.33521	0.165	T	0.30416	-0.9979	10	0.52906	T	0.07	-0.26	3.6121	0.08063	0.4527:0.0:0.3334:0.2139	.	687	Q0P6D6	CCD15_HUMAN	I	687	ENSP00000435403:R687I;ENSP00000341684:R687I	ENSP00000341684:R687I	R	+	2	0	CCDC15	124367714	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.437000	0.21543	-0.417000	0.07461	0.655000	0.94253	AGA	.		0.348	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		T	124862504	G	T	124862504	3	4	1	1	0	0	0	0	1	0	0	0	2791	942	33	3	2094	3	CCDC15	11	124862504	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	59489079	124862504	10144012	100	100											
SCNN1A	6337	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6471245	6471245	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:6471245G>T	ENST00000228916.2	-	4	945	c.847C>A	c.(847-849)Cgc>Agc	p.R283S	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R283S|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R306S|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R342S|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R283S	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	283					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)	TGGTTGAAGCGGCAGGCGAAG	0.627																																					p.R342S		.											.	.	.	0			c.C1024A						.						92	90	90					12																	6471245		2203	4300	6503	SO:0001583	missense	6337	exon3			TGAAGCGGCAGGC	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.847C>A	12.37:g.6471245G>T	ENSP00000228916:p.Arg283Ser	30	0		41	6	NM_001159576	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246354	0.39697	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.05	5.05	0.67936	.	0.174133	0.37809	N	0.001921	T	0.63570	0.2522	L	0.42008	1.315	0.42866	D	0.994128	D;D;B	0.58970	0.984;0.984;0.185	D;D;B	0.65874	0.939;0.939;0.105	T	0.58549	-0.7617	10	0.20519	T	0.43	-14.1256	11.0678	0.47985	0.0:0.0:0.8147:0.1853	.	306;283;342	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	S	342;283;283;283;306	ENSP00000353292:R342S;ENSP00000351825:R283S;ENSP00000228916:R283S;ENSP00000380166:R283S;ENSP00000438739:R306S	ENSP00000228916:R283S	R	-	1	0	SCNN1A	6341506	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.983000	0.63832	2.334000	0.79466	0.561000	0.74099	CGC	.		0.627	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			T	6471245	G	T	6471245	3	4	1	1	0	0	0	0	1	0	0	0	13972	1116	39	2	1202	2	SCNN1A	12	6471245	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		6471245	127380650	101	101											
MGST1	4257	hgsc.bcm.edu	37	12	16516728	16516728	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:16516728G>T	ENST00000396209.1	+	4	364		c.e4-1		MGST1_ENST00000540056.1_Splice_Site|MGST1_ENST00000396207.1_Splice_Site|MGST1_ENST00000010404.2_Splice_Site|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396210.3_Splice_Site	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1						cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TTTTTCCACAGAGCCCACCTG	0.383																																					.		.											.	.	.	0			c.222-1G>T						.						103	101	101					12																	16516728		2203	4300	6503	SO:0001630	splice_region_variant	4257	exon4			TCCACAGAGCCCA	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"Glutathione S-transferases / Microsomal"	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.222-1G>T	12.37:g.16516728G>T		67	0		95	4	NM_145792	A8K533|G5EA53	Splice_Site	SNP	ENST00000396209.1	37	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928431	0.52759	.	.	ENSG00000008394	ENST00000536371;ENST00000010404;ENST00000543076;ENST00000396210;ENST00000540056;ENST00000396209;ENST00000540126;ENST00000396207	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2213	0.93797	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGST1	16407995	1.000000	0.71417	0.999000	0.59377	0.571000	0.35966	8.503000	0.90509	2.775000	0.95449	0.655000	0.94253	.	.		0.383	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791	Intron	T	16516728	G	T	16516728	5	4	1	1	0	0	0	0	0	0	1	0	9598	956	33	3	231	3	MGST1	12	16516728	Splice_Site	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	10045483	16516728	117335167	102	102											
ABCC9	10060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	22089573	22089573	+	Silent	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:22089573T>C	ENST00000261201.4	-	1	35	c.36A>G	c.(34-36)tcA>tcG	p.S12S	ABCC9_ENST00000326684.4_Silent_p.S12S|ABCC9_ENST00000261200.4_Silent_p.S12S|ABCC9_ENST00000345162.2_Silent_p.S12S|ABCC9_ENST00000538350.1_Silent_p.S12S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	12					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)	TGATATTATATGAAGAAATGT	0.338																																					p.S12S		.											.	.	.	0			c.A36G						.						98	99	98					12																	22089573		2203	4300	6503	SO:0001819	synonymous_variant	10060	exon1			ATTATATGAAGAA	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.36A>G	12.37:g.22089573T>C		58	0		74	7	NM_005691	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																			.		0.338	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		C	22089573	T	C	22089573	2	2	1	1	0	0	0	0	0	0	0	1	59	1451	51	4		4	ABCC9	12	22089573	Silent	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	5572845	22089573	111762322	103	103											
KIF21A	55605	hgsc.bcm.edu;bcgsc.ca	37	12	39752014	39752014	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:39752014G>T	ENST00000361418.5	-	8	1196	c.1181C>A	c.(1180-1182)aCa>aAa	p.T394K	KIF21A_ENST00000544797.2_Missense_Mutation_p.T394K|KIF21A_ENST00000395670.3_Missense_Mutation_p.T394K|KIF21A_ENST00000361961.3_Missense_Mutation_p.T394K|KIF21A_ENST00000541463.2_Missense_Mutation_p.T394K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	394					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)				CTGAAGTCGTGTGATTTCACT	0.403																																					p.T394K		.											.	.	.	0			c.C1181A						.						382	345	358					12																	39752014		2203	4300	6503	SO:0001583	missense	55605	exon8			AGTCGTGTGATTT	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.1181C>A	12.37:g.39752014G>T	ENSP00000354878:p.Thr394Lys	72	0		90	4	NM_001173463	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820887	0.71028	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000059	T	0.51109	0.1655	N	0.08118	0	0.45129	D	0.998146	B;P;B;P;B	0.36282	0.007;0.546;0.038;0.469;0.006	B;B;B;B;B	0.33750	0.024;0.073;0.107;0.169;0.001	T	0.54622	-0.8266	10	0.28530	T	0.3	.	17.5127	0.87764	0.0:0.0:1.0:0.0	.	394;394;394;394;394	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	K	394;394;394;394;394;394;217	ENSP00000354851:T394K;ENSP00000379029:T394K;ENSP00000445606:T394K;ENSP00000354878:T394K;ENSP00000438075:T394K;ENSP00000449700:T217K	ENSP00000344501:T394K	T	-	2	0	KIF21A	38038281	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.550000	0.98110	2.190000	0.69967	0.655000	0.94253	ACA	.		0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		T	39752014	G	T	39752014	3	4	1	1	0	0	0	0	1	0	0	0	8315	1377	48	3	3967	3	KIF21A	12	39752014	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	17662441	39752014	94099881	104	104											
GXYLT1	283464	ucsc.edu;bcgsc.ca	37	12	42512938	42512938	+	Missense_Mutation	SNP	T	T	A	rs200822565		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:42512938T>A	ENST00000398675.3	-	3	582	c.350A>T	c.(349-351)cAt>cTt	p.H117L	GXYLT1_ENST00000280876.6_Missense_Mutation_p.H86L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	117					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)	p.H117L(1)|p.H86L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TACAGCTAGATGCATTTTCTC	0.348																																					p.H117L													Q8IXV1_HUMAN,NS,carcinoma,0,4	GXYLT1	47	2	Substitution - Missense(2)	liver(2)	c.A350T						.						98	89	91					12																	42512938		1891	4131	6022	SO:0001583	missense	283464	exon3			GCTAGATGCATTT	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.350A>T	12.37:g.42512938T>A	ENSP00000381666:p.His117Leu	71	1		87	12	NM_173601	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926250	0.92319	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.25749	1.78;1.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.86805	2.84	0.80722	D	1	P;D	0.56035	0.937;0.974	P;P	0.57620	0.805;0.824	T	0.61579	-0.7034	10	0.72032	D	0.01	8.6287	15.6136	0.76748	0.0:0.0:0.0:1.0	.	86;117	Q4G148-2;Q4G148	.;GXLT1_HUMAN	L	117;86	ENSP00000381666:H117L;ENSP00000280876:H86L	ENSP00000280876:H86L	H	-	2	0	GXYLT1	40799205	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.428000	0.80296	2.097000	0.63578	0.482000	0.46254	CAT	.		0.348	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		A	42512938	T	A	42512938	3	1	1	1	0	0	0	0	1	0	0	0	6930	1464	51	5	996	5	GXYLT1	12	42512938	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	2760924	42512938	91338957	105	105											
ANKRD33	341405	broad.mit.edu	37	12	52284827	52284827	+	Intron	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:52284827C>T	ENST00000340970.4	+	5	1035				ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000301190.6_Missense_Mutation_p.S366F			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)		CCCCAGAGGTCCCCGTGGGTC	0.657																																					p.S366F													.	ANKRD33	33	0			c.C1097T						.						32	33	32					12																	52284827		2203	4300	6503	SO:0001627	intron_variant	341405	exon5			AGAGGTCCCCGTG		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.664+58C>T	12.37:g.52284827C>T		21	0		20	3	NM_182608	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	2.321	-0.355616	0.05138	.	.	ENSG00000167612	ENST00000301190	T	0.24350	1.86	0.235	0.235	0.15431	.	4.767820	0.02797	U	0.122803	T	0.24774	0.0601	.	.	.	0.09310	N	0.999998	P	0.43094	0.799	B	0.41813	0.367	T	0.27806	-1.0063	9	0.72032	D	0.01	-17.1012	5.932	0.19144	0.0:1.0:0.0:0.0	.	366	Q7Z3H0-2	.	F	366	ENSP00000301190:S366F	ENSP00000301190:S366F	S	+	2	0	ANKRD33	50571094	0.002000	0.14202	0.002000	0.10522	0.005000	0.04900	0.441000	0.21611	0.308000	0.22923	0.313000	0.20887	TCC	.		0.657	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52284827	C	T	52284827	1	4	1	0	1	0	0	0	0	0	0	0	661	855	30	3		3	ANKRD33	12	52284827	Intron	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	9771889	52284827	81567068	106	106											
PIP4K2C	79837	hgsc.bcm.edu	37	12	57994636	57994636	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:57994636G>T	ENST00000354947.5	+	8	872	c.856G>T	c.(856-858)Ggc>Tgc	p.G286C	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.G268C|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.G238C|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.G286C			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	286	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCTTCTGCTAGGCATCCACGA	0.557																																					p.G286C		.											.,1	.	50	0			c.G856T						.						218	216	217					12																	57994636		2203	4300	6503	SO:0001583	missense	79837	exon8			CTGCTAGGCATCC	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.856G>T	12.37:g.57994636G>T	ENSP00000347032:p.Gly286Cys	23	0		43	2	NM_001146258	B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.293651|4.293651	0.80914|0.80914	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947|ENST00000548264	T;T;T;T|.	0.69926|.	-0.44;-0.44;-0.44;-0.44|.	4.47|4.47	4.47|4.47	0.54385|0.54385	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87350|.	0.6155|.	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.999;0.997;0.999|.	D|.	0.91490|.	0.5211|.	10|.	0.87932|.	D|.	0|.	-13.5224|-13.5224	16.433|16.433	0.83860|0.83860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	238;268;286|.	B4DM11;B4DY44;Q8TBX8|.	.;.;PI42C_HUMAN|.	C|Y	238;286;268;286|93	ENSP00000412035:G238C;ENSP00000439878:G286C;ENSP00000447390:G268C;ENSP00000347032:G286C|.	ENSP00000347032:G286C|.	G|X	+|+	1|3	0|2	PIP4K2C|PIP4K2C	56280903|56280903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.089000|9.089000	0.94137|0.94137	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GGC|TAG	.		0.557	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		T	57994636	G	T	57994636	3	4	1	1	0	0	0	0	1	0	0	0	11977	1000	35	3	886	3	PIP4K2C	12	57994636	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	5709809	57994636	75857259	107	107											
TRHDE	29953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	73015434	73015434	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:73015434A>G	ENST00000261180.4	+	15	2539	c.2443A>G	c.(2443-2445)Aga>Gga	p.R815G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	815					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						AGAACTACGTAGAGAAGTTAT	0.343																																					p.R815G		.											.	.	.	0			c.A2443G						.						69	64	66					12																	73015434		2203	4300	6503	SO:0001583	missense	29953	exon15			CTACGTAGAGAAG	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.2443A>G	12.37:g.73015434A>G	ENSP00000261180:p.Arg815Gly	46	0		47	7	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.476955	0.84640	.	.	ENSG00000072657	ENST00000261180	T	0.04862	3.54	5.58	-1.85	0.07784	.	0.050867	0.64402	N	0.000001	T	0.05593	0.0147	L	0.39020	1.185	0.41522	D	0.988405	B	0.20550	0.046	B	0.20184	0.028	T	0.30268	-0.9984	10	0.51188	T	0.08	.	12.4052	0.55434	0.3377:0.5926:0.0696:0.0	.	815	Q9UKU6	TRHDE_HUMAN	G	815	ENSP00000261180:R815G	ENSP00000261180:R815G	R	+	1	2	TRHDE	71301701	0.083000	0.21467	0.107000	0.21349	0.884000	0.51177	0.597000	0.24059	-0.122000	0.11766	0.533000	0.62120	AGA	.		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		G	73015434	A	G	73015434	3	3	1	1	0	0	0	0	1	0	0	0	16527	412	15	4	2501	4	TRHDE	12	73015434	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	15020798	73015434	60836461	108	108											
NAP1L1	4673	broad.mit.edu	37	12	76444323	76444323	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:76444323A>T	ENST00000261182.8	-	12	1533	c.1047T>A	c.(1045-1047)gaT>gaA	p.D349E	NAP1L1_ENST00000548044.1_Missense_Mutation_p.D308E|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D281E|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D349E|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D286E|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D360E|NAP1L1_ENST00000544816.1_Missense_Mutation_p.D166E|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D349E|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D307E|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D349E|NAP1L1_ENST00000547993.1_Missense_Mutation_p.D166E	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	349	Asp/Glu-rich (acidic).				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)				CATCATCATCATCTTCAATAG	0.358																																					p.D349E													.	NAP1L1	33	0			c.T1047A						.						71	72	72					12																	76444323		2203	4300	6503	SO:0001583	missense	4673	exon12			ATCATCATCTTCA		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.1047T>A	12.37:g.76444323A>T	ENSP00000261182:p.Asp349Glu	60	0		70	3	NM_004537	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605005	0.46423	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;1.3;0.98;0.98;0.98;0.98;0.98;0.98	5.65	0.802	0.18686	.	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	N	0.21282	0.65	0.52099	D	0.99994	D;D;D;D;D;B;D	0.61697	0.99;0.984;0.99;0.984;0.984;0.157;0.984	D;D;D;D;D;B;D	0.73380	0.971;0.935;0.98;0.935;0.935;0.082;0.935	T	0.17806	-1.0357	10	0.12103	T	0.63	.	8.9291	0.35659	0.7101:0.0:0.2899:0.0	.	349;307;360;349;281;286;349	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	E	349;343;349;281;286;166;307;349;349;166;360;308	ENSP00000261182:D349E;ENSP00000450236:D343E;ENSP00000376947:D349E;ENSP00000409795:D281E;ENSP00000448167:D286E;ENSP00000437507:D166E;ENSP00000444759:D307E;ENSP00000445008:D349E;ENSP00000447793:D349E;ENSP00000448007:D166E;ENSP00000447196:D360E;ENSP00000449649:D308E	ENSP00000261182:D349E	D	-	3	2	NAP1L1	74730590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.558000	0.45879	0.108000	0.17862	0.482000	0.46254	GAT	.		0.358	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		T	76444323	A	T	76444323	3	4	1	1	0	0	0	0	1	0	0	0	10194	214	8	5	144	5	NAP1L1	12	76444323	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	3428889	76444323	57407572	109	109											
ACACB	32	hgsc.bcm.edu	37	12	109644547	109644547	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:109644547G>T	ENST00000338432.7	+	20	3065	c.2946G>T	c.(2944-2946)caG>caT	p.Q982H	ACACB_ENST00000377854.5_Missense_Mutation_p.Q982H|ACACB_ENST00000377848.3_Missense_Mutation_p.Q982H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	982					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)	TCCCTGCCCAGCAGACACTGC	0.557																																					p.Q982H		.											ACACB,right_upper_lobe,carcinoma,0,1	ACACB	0	0			c.G2946T						.						170	169	169					12																	109644547		2203	4300	6503	SO:0001583	missense	32	exon19			TGCCCAGCAGACA	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.2946G>T	12.37:g.109644547G>T	ENSP00000341044:p.Gln982His	48	0		50	2	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	9.022	0.985160	0.18889	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.42513	0.97;0.97;0.97	5.16	4.27	0.50696	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.62723	1.935	0.80722	D	1	B	0.32382	0.368	B	0.36092	0.217	T	0.32666	-0.9898	10	0.33141	T	0.24	.	13.9196	0.63923	0.0734:0.0:0.9266:0.0	.	982	O00763	ACACB_HUMAN	H	982;982;982;213	ENSP00000341044:Q982H;ENSP00000367079:Q982H;ENSP00000367085:Q982H	ENSP00000341044:Q982H	Q	+	3	2	ACACB	108128930	1.000000	0.71417	0.945000	0.38365	0.511000	0.34104	4.042000	0.57347	1.190000	0.43042	0.561000	0.74099	CAG	.		0.557	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109644547	G	T	109644547	3	4	1	1	0	0	0	0	1	0	0	0	107	962	34	3	3020	3	ACACB	12	109644547	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	33200224	109644547	24207348	110	110											
TMED2	10959	bcgsc.ca	37	12	124069354	124069354	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr12:124069354C>T	ENST00000262225.3	+	1	277	c.171C>T	c.(169-171)atC>atT	p.I57I	TMED2_ENST00000509052.2_5'Flank|RP11-486O12.2_ENST00000498967.2_lincRNA	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	57	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		TCCTGGACATCGACGTGGAGG	0.677																																					p.I57I													.	TMED2	19	0			c.C171T						.						50	49	49					12																	124069354		2203	4300	6503	SO:0001819	synonymous_variant	10959	exon1			GGACATCGACGTG	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.171C>T	12.37:g.124069354C>T		33	0		44	4	NM_006815		Silent	SNP	ENST00000262225.3	37	CCDS9250.1																																																																																			.		0.677	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815		T	124069354	C	T	124069354	2	4	1	1	0	0	0	0	0	0	0	1	16051	874	31	1		1	TMED2	12	124069354	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	14424807	124069354	9782541	111	111											
ENOX1	55068	broad.mit.edu	37	13	43930059	43930059	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr13:43930059C>T	ENST00000261488.6	-	8	1396	c.819G>A	c.(817-819)ctG>ctA	p.L273L	ENOX1_ENST00000540032.1_Silent_p.L86L|ENOX1_ENST00000412891.1_Silent_p.L273L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	273					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)		CCATACCTTTCAGCTTTTCAG	0.622																																					p.L273L													ENOX1_ENST00000261488,NS,carcinoma,-1,2	ENOX1	158	0			c.G819A						.						92	101	98					13																	43930059		2201	4297	6498	SO:0001819	synonymous_variant	55068	exon8			ACCTTTCAGCTTT	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.819G>A	13.37:g.43930059C>T		34	0		39	4	NM_017993	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	ENST00000261488.6	37	CCDS9389.1																																																																																			.		0.622	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		T	43930059	C	T	43930059	2	4	1	1	0	0	0	0	0	0	0	1	5142	813	29	3		3	ENOX1	13	43930059	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09		43930059	71239819	112	112											
PCDH20	64881	hgsc.bcm.edu	37	13	61986532	61986532	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr13:61986532C>T	ENST00000409186.1	-	5	3805	c.1700G>A	c.(1699-1701)aGa>aAa	p.R567K	PCDH20_ENST00000409204.4_Missense_Mutation_p.R567K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	567	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACTTGGCCTCTCTCCTCGCT	0.433																																					p.R567K		.											PCDH20_ENST00000409186,NS,carcinoma,0,2	PCDH20_ENST00000409186	0	0			c.G1700A						.						114	117	116					13																	61986532		2203	4300	6503	SO:0001583	missense	64881	exon2			TGGCCTCTCTCCT	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1700G>A	13.37:g.61986532C>T	ENSP00000386653:p.Arg567Lys	27	0		40	2	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408609	0.42715	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.51071	0.72;0.72	6.0	5.14	0.70334	.	0.087629	0.50627	D	0.000112	T	0.47728	0.1461	L	0.50333	1.59	0.47374	D	0.999407	B	0.21147	0.052	B	0.27076	0.076	T	0.46569	-0.9182	10	0.87932	D	0	.	16.2103	0.82150	0.1378:0.8622:0.0:0.0	.	567	A8K1K9	.	K	567;567;313	ENSP00000387250:R567K;ENSP00000386653:R567K	ENSP00000351500:R313K	R	-	2	0	PCDH20	60884533	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.574000	0.46016	1.481000	0.48307	0.650000	0.86243	AGA	.		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		T	61986532	C	T	61986532	3	4	1	1	0	0	0	0	1	0	0	0	11554	913	32	3	1159	3	PCDH20	13	61986532	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	18056473	61986532	53183346	113	113											
OTX2	5015	broad.mit.edu	37	14	57269033	57269033	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr14:57269033T>A	ENST00000555006.1	-	4	698	c.290A>T	c.(289-291)cAg>cTg	p.Q97L	OTX2_ENST00000339475.5_Missense_Mutation_p.Q105L|OTX2_ENST00000554788.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.Q97L			P32243	OTX2_HUMAN	orthodenticle homeobox 2	97	Poly-Gln.				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)					CTGTTGTTGCTGTTGTTGGCG	0.438																																					p.Q105L													.	OTX2	47	0			c.A314T						.						113	117	116					14																	57269033		2203	4300	6503	SO:0001583	missense	5015	exon3			TGTTGCTGTTGTT	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.290A>T	14.37:g.57269033T>A	ENSP00000452336:p.Gln97Leu	44	0		54	5	NM_001270525	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435683	0.62955	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.78	5.78	0.91487	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.43110	D	0.000612	D	0.96027	0.8706	M	0.79693	2.465	0.80722	D	1	P;B	0.38420	0.63;0.446	B;B	0.38803	0.282;0.197	D	0.96174	0.9125	10	0.72032	D	0.01	.	14.9485	0.71050	0.0:0.0:0.0:1.0	.	105;97	F1T0D1;P32243	.;OTX2_HUMAN	L	105;97;97;105;97	ENSP00000343819:Q105L;ENSP00000386185:Q97L;ENSP00000452336:Q97L;ENSP00000451357:Q105L;ENSP00000451272:Q97L	ENSP00000343819:Q105L	Q	-	2	0	OTX2	56338786	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.698000	0.84413	2.212000	0.71576	0.374000	0.22700	CAG	.		0.438	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		A	57269033	T	A	57269033	3	1	1	1	0	0	0	0	1	0	0	0	11360	1580	55	5	583	5	OTX2	14	57269033	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09		57269033	50080507	114	114											
DPF3	8110	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	73140954	73140954	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr14:73140954G>A	ENST00000556509.1	-	8	864	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	DPF3_ENST00000546183.1_Missense_Mutation_p.R299C|DPF3_ENST00000541685.1_Missense_Mutation_p.R289C|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	289					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)		TCACCAGAGCGTCCACAGTCT	0.572																																					p.R289C		.											.	.	.	0			c.C865T						.						48	55	53					14																	73140954		2124	4251	6375	SO:0001583	missense	8110	exon8			CAGAGCGTCCACA	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.865C>T	14.37:g.73140954G>A	ENSP00000450518:p.Arg289Cys	48	0		58	5	NM_012074	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.425849	0.96131	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91894	-2.93;-1.09;-1.11	5.65	5.65	0.86999	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);	.	.	.	.	D	0.97228	0.9094	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.97432	1.0016	9	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	299;289;289	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	C	289;288;289;299	ENSP00000450518:R289C;ENSP00000441640:R289C;ENSP00000444662:R299C	ENSP00000381791:R344C	R	-	1	0	DPF3	72210707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.595000	0.98260	2.941000	0.99782	0.655000	0.94253	CGC	.		0.572	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			A	73140954	G	A	73140954	3	1	1	1	0	0	0	0	1	0	0	0	4732	1145	40	1	216	1	DPF3	14	73140954	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	15871921	73140954	34208586	115	115											
TMED8	283578	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	77810058	77810058	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr14:77810058G>A	ENST00000216468.7	-	4	491	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	146					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGTCCCCCAGAAGATCTGCA	0.458																																					p.L146L		.											.	.	.	0			c.C436T						.						190	195	193					14																	77810058		2203	4300	6503	SO:0001819	synonymous_variant	283578	exon4			CCCCCAGAAGATC	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.436C>T	14.37:g.77810058G>A		62	0		69	7	NM_213601	B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	37	CCDS32125.1																																																																																			.		0.458	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		A	77810058	G	A	77810058	2	1	1	1	0	0	0	0	0	0	0	1	16058	933	33	3		3	TMED8	14	77810058	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	4669104	77810058	29539482	116	116											
EML5	161436	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	89220900	89220900	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr14:89220900G>T	ENST00000380664.5	-	2	312	c.313C>A	c.(313-315)Cat>Aat	p.H105N	EML5_ENST00000554922.1_Missense_Mutation_p.H105N|EML5_ENST00000352093.5_Missense_Mutation_p.H105N			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	105						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						CCATGTGTATGAACATCCTTT	0.353																																					p.H105N		.											.	.	.	0			c.C313A						.						102	92	95					14																	89220900		1868	4111	5979	SO:0001583	missense	161436	exon2			GTGTATGAACATC	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.313C>A	14.37:g.89220900G>T	ENSP00000370039:p.His105Asn	89	0		110	11	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055082	0.75960	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01947	4.54;4.54;4.54	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.145289	0.48767	D	0.000174	T	0.17831	0.0428	M	0.90252	3.1	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.00595	-1.1653	10	0.44086	T	0.13	-16.7777	20.0716	0.97726	0.0:0.0:1.0:0.0	.	105	Q05BV3	EMAL5_HUMAN	N	105	ENSP00000451998:H105N;ENSP00000298315:H105N;ENSP00000370039:H105N	ENSP00000298315:H105N	H	-	1	0	EML5	88290653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.741000	0.93983	0.585000	0.79938	CAT	.		0.353	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89220900	G	T	89220900	3	4	1	1	0	0	0	0	1	0	0	0	5116	1290	45	3	5788	3	EML5	14	89220900	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	11410842	89220900	18128640	117	117											
JAG2	3714	broad.mit.edu	37	14	105612177	105612177	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr14:105612177T>C	ENST00000331782.3	-	23	3246	c.2843A>G	c.(2842-2844)gAg>gGg	p.E948G	JAG2_ENST00000347004.2_Missense_Mutation_p.E910G	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	948					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)		TGCGCCGCACTCCCCCCAGGC	0.687																																					p.E948G													.	JAG2	69	0			c.A2843G						.						27	21	23					14																	105612177		2144	4260	6404	SO:0001583	missense	3714	exon23			CCGCACTCCCCCC	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.2843A>G	14.37:g.105612177T>C	ENSP00000328169:p.Glu948Gly	73	1		94	3	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294824	0.40594	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87334	-2.23;-2.24	3.6	2.39	0.29439	.	0.356734	0.25762	U	0.028466	D	0.82724	0.5099	L	0.52573	1.65	0.38453	D	0.947009	B;B	0.29646	0.253;0.164	B;B	0.32980	0.156;0.075	T	0.78130	-0.2324	10	0.56958	D	0.05	.	8.9426	0.35740	0.0:0.0:0.1887:0.8113	.	910;948	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	G	948;910	ENSP00000328169:E948G;ENSP00000328566:E910G	ENSP00000328169:E948G	E	-	2	0	JAG2	104683222	0.885000	0.30320	0.990000	0.47175	0.797000	0.45037	1.450000	0.35134	0.254000	0.21573	0.358000	0.22013	GAG	.		0.687	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			C	105612177	T	C	105612177	3	2	1	1	0	0	0	0	1	0	0	0	7962	1551	54	4	889	4	JAG2	14	105612177	Missense_Mutation	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09	16391277	105612177	1737363	118	118											
GABRB3	2562	hgsc.bcm.edu	37	15	26812850	26812850	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr15:26812850C>A	ENST00000311550.5	-	7	824	c.713G>T	c.(712-714)cGg>cTg	p.R238L	GABRB3_ENST00000400188.3_Missense_Mutation_p.R167L|GABRB3_ENST00000541819.2_Missense_Mutation_p.R294L|GABRB3_ENST00000299267.4_Missense_Mutation_p.R238L|GABRB3_ENST00000545868.1_Missense_Mutation_p.R153L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	238					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)	p.R238L(2)|p.R294L(1)		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)	CCTCTTCAACCGAAAGCTCAG	0.423																																					p.R238L		.											GABRB3_ENST00000541819,rectum,carcinoma,-1,3	GABRB3_ENST00000541819	-1	3	Substitution - Missense(3)	lung(3)	c.G713T						.						125	107	113					15																	26812850		2203	4300	6503	SO:0001583	missense	2562	exon7			TTCAACCGAAAGC		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.713G>T	15.37:g.26812850C>A	ENSP00000308725:p.Arg238Leu	36	0		46	2	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496539	0.44352	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	6.06	5.14	0.70334	Neurotransmitter-gated ion-channel ligand-binding (3);	0.096499	0.64402	D	0.000001	T	0.63153	0.2487	N	0.19112	0.55	0.48762	D	0.999705	B;B;B	0.22541	0.071;0.013;0.028	B;B;B	0.18871	0.023;0.009;0.016	T	0.61744	-0.7000	10	0.62326	D	0.03	.	10.0786	0.42375	0.0:0.8536:0.0:0.1464	.	294;238;238	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	238;294;238;167;153	ENSP00000308725:R238L;ENSP00000442408:R294L;ENSP00000299267:R238L;ENSP00000383049:R167L;ENSP00000439169:R153L	ENSP00000299267:R238L	R	-	2	0	GABRB3	24363943	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.188000	0.50958	2.879000	0.98667	0.650000	0.86243	CGG	.		0.423	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			A	26812850	C	A	26812850	3	1	1	1	0	0	0	0	1	0	0	0	6192	652	23	2	720	2	GABRB3	15	26812850	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09		26812850	75718542	119	119											
DMXL2	23312	hgsc.bcm.edu	37	15	51809289	51809289	+	Missense_Mutation	SNP	C	C	T	rs199866251		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr15:51809289C>T	ENST00000251076.5	-	14	2799	c.2512G>A	c.(2512-2514)Gca>Aca	p.A838T	DMXL2_ENST00000543779.2_Missense_Mutation_p.A838T|DMXL2_ENST00000449909.3_Missense_Mutation_p.A838T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	838						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)		TTGGTTATTGCGTCGAGTTCA	0.333																																					p.A838T		.											DMXL2,colon,carcinoma,0,2	DMXL2	0	0			c.G2512A						.	C	THR/ALA,THR/ALA,THR/ALA	0,4390		0,0,2195	152	147	149		2512,2512,2512	5.4	1	15		149	1,8585	1.2+/-3.3	0,1,4292	yes	missense,missense,missense	DMXL2	NM_001174116.1,NM_001174117.1,NM_015263.3	58,58,58	0,1,6487	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	838/3038,838/2401,838/3037	51809289	1,12975	2195	4293	6488	SO:0001583	missense	23312	exon14			TTATTGCGTCGAG	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.2512G>A	15.37:g.51809289C>T	ENSP00000251076:p.Ala838Thr	80	0		87	3	NM_001174117	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113075	0.77210	0.0	1.16E-4	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.32023	1.47;1.47;1.47	5.4	5.4	0.78164	.	0.049962	0.85682	D	0.000000	T	0.30417	0.0764	L	0.37750	1.13	0.34491	D	0.704933	P;D;D	0.57899	0.807;0.976;0.981	B;B;P	0.44597	0.087;0.353;0.454	T	0.27739	-1.0065	10	0.26408	T	0.33	.	19.2061	0.93730	0.0:1.0:0.0:0.0	.	838;838;838	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	T	838	ENSP00000251076:A838T;ENSP00000441858:A838T;ENSP00000400855:A838T	ENSP00000251076:A838T	A	-	1	0	DMXL2	49596581	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.445000	0.80570	2.536000	0.85505	0.650000	0.86243	GCA	.		0.333	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51809289	C	T	51809289	3	4	1	1	0	0	0	0	1	0	0	0	4609	768	27	1	6721	1	DMXL2	15	51809289	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	24996439	51809289	50722103	120	120											
TBC1D2B	23102	hgsc.bcm.edu	37	15	78305220	78305220	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr15:78305220G>T	ENST00000300584.3	-	9	2214	c.2215C>A	c.(2215-2217)Ctc>Atc	p.L739I	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L739I	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	739	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGCGAGGAGGACATTGCGT	0.512																																					p.L739I		.											TBC1D2B_ENST00000300584,colon,carcinoma,0,2	TBC1D2B_ENST00000300584	0	0			c.C2215A						.						136	109	119					15																	78305220		2196	4293	6489	SO:0001583	missense	23102	exon9			CGAGGAGGACATT	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.2215C>A	15.37:g.78305220G>T	ENSP00000300584:p.Leu739Ile	22	0		36	2	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043195	0.75732	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.50277	0.75;0.75	5.32	5.32	0.75619	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	H	0.94808	3.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	D	0.84586	0.0664	10	0.87932	D	0	.	18.3439	0.90314	0.0:0.0:1.0:0.0	.	739;191;739	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	I	739	ENSP00000387165:L739I;ENSP00000300584:L739I	ENSP00000300584:L739I	L	-	1	0	TBC1D2B	76092275	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	6.557000	0.73937	2.646000	0.89796	0.655000	0.94253	CTC	.		0.512	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		T	78305220	G	T	78305220	3	4	1	1	0	0	0	0	1	0	0	0	15666	1000	35	3	696	3	TBC1D2B	15	78305220	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	26495931	78305220	24226172	121	121											
ALPK3	57538	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	85401487	85401487	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr15:85401487G>C	ENST00000258888.5	+	6	4291	c.4124G>C	c.(4123-4125)aGa>aCa	p.R1375T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1375					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)			CCTAAGGTCAGAGCAGCAGGA	0.642																																					p.R1375T		.											.	.	.	0			c.G4124C						.						18	24	22					15																	85401487		2201	4295	6496	SO:0001583	missense	57538	exon6			AGGTCAGAGCAGC	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.4124G>C	15.37:g.85401487G>C	ENSP00000258888:p.Arg1375Thr	120	0		187	15	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	g	15.73	2.919145	0.52546	.	.	ENSG00000136383	ENST00000258888	T	0.64260	-0.09	5.92	2.63	0.31362	.	0.293421	0.34603	N	0.003838	T	0.50205	0.1602	L	0.57536	1.79	0.25840	N	0.984065	P	0.43094	0.799	B	0.38378	0.272	T	0.50516	-0.8819	10	0.52906	T	0.07	-12.5367	3.8078	0.08785	0.2382:0.2029:0.5588:0.0	.	1375	Q96L96	ALPK3_HUMAN	T	1375	ENSP00000258888:R1375T	ENSP00000258888:R1375T	R	+	2	0	ALPK3	83202491	0.985000	0.35326	0.368000	0.25939	0.893000	0.52053	1.349000	0.33998	0.816000	0.34421	0.651000	0.88453	AGA	.		0.642	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		C	85401487	G	C	85401487	3	2	1	1	0	0	0	0	1	0	0	0	546	942	33	5	4146	5	ALPK3	15	85401487	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	7096267	85401487	17129905	122	122											
ADAMTS17	170691	hgsc.bcm.edu;bcgsc.ca	37	15	100802574	100802574	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr15:100802574G>T	ENST00000268070.4	-	5	961	c.856C>A	c.(856-858)Ctg>Atg	p.L286M	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	286	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)		TGTCGTAGCAGGACAAGCTTG	0.438																																					p.L286M		.											.	.	.	0			c.C856A						.						157	151	153					15																	100802574		2203	4300	6503	SO:0001583	missense	170691	exon5			GTAGCAGGACAAG	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.856C>A	15.37:g.100802574G>T	ENSP00000268070:p.Leu286Met	48	0		59	4	NM_139057	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997619	0.74818	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.87412	-2.25	5.6	5.6	0.85130	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.090722	0.45606	D	0.000346	D	0.89839	0.6831	L	0.35854	1.095	0.50039	D	0.99984	D;D	0.71674	0.992;0.998	D;P	0.64237	0.923;0.905	D	0.87893	0.2685	10	0.31617	T	0.26	.	19.6251	0.95674	0.0:0.0:1.0:0.0	.	43;286	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	M	286;43	ENSP00000268070:L286M	ENSP00000268070:L286M	L	-	1	2	ADAMTS17	98620097	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	5.949000	0.70257	2.636000	0.89361	0.655000	0.94253	CTG	.		0.438	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		T	100802574	G	T	100802574	3	4	1	1	0	0	0	0	1	0	0	0	262	991	35	3	2503	3	ADAMTS17	15	100802574	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	15401087	100802574	1728818	123	123											
RUNDC2A	92017	hgsc.bcm.edu	37	16	12093200	12093200	+	Silent	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr16:12093200G>T	ENST00000566228.1	+	2	123	c.54G>T	c.(52-54)ctG>ctT	p.L18L		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	18						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGCGACTGCTGGATGCAGTGA	0.418																																					p.L18L		.											.	.	.	0			c.G54T						.						93	84	87					16																	12093200		2197	4300	6497	SO:0001819	synonymous_variant	92017	exon2			ACTGCTGGATGCA	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.54G>T	16.37:g.12093200G>T		46	0		63	3	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	CCDS10553.2																																																																																			.		0.418	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12093200	G	T	12093200	2	4	1	1	0	0	0	0	0	0	0	1	13788	1335	47	3		3	RUNDC2A	16	12093200	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		12093200	78261553	124	124											
TOX3	27324	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	52473515	52473515	+	Silent	SNP	C	C	T	rs374335680|rs546327959	byFrequency	TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr16:52473515C>T	ENST00000219746.9	-	7	1637	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	TOX3_ENST00000407228.3_Silent_p.Q446Q	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	451	Gln-rich.				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						gttgttgttgctgctgctgct	0.552																																					p.Q451Q		.											.	.	.	0			c.G1353A						.	C	,	0,4390		0,0,2195	51	49	50		1353,1338	1.6	0.9	16		50	2,8596		0,2,4297	no	coding-synonymous,coding-synonymous	TOX3	NM_001080430.2,NM_001146188.1	,	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	,	451/577,446/572	52473515	2,12986	2195	4299	6494	SO:0001819	synonymous_variant	27324	exon7			TTGTTGCTGCTGC	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.1353G>A	16.37:g.52473515C>T		34	0		48	4	NM_001080430	B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	CCDS54009.1																																																																																			.		0.552	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		T	52473515	C	T	52473515	2	4	1	1	0	0	0	0	0	0	0	1	16427	796	28	3		3	TOX3	16	52473515	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	40380315	52473515	37881238	125	125											
PRMT7	54496	hgsc.bcm.edu	37	16	68355328	68355328	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr16:68355328G>T	ENST00000339507.5	+	4	925		c.e4-1		PRMT7_ENST00000348497.4_Splice_Site|PRMT7_ENST00000441236.1_Splice_Site|PRMT7_ENST00000449359.3_Splice_Site|PRMT7_ENST00000564441.1_Splice_Site|RP11-96D1.3_ENST00000563203.1_RNA			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7						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)		TTGTTTTTTAGGTCATCTTAT	0.338																																					.		.											.	.	.	0			c.96-1G>T						.						265	240	248					16																	68355328		2198	4300	6498	SO:0001630	splice_region_variant	54496	exon3			TTTTTAGGTCATC	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.96-1G>T	16.37:g.68355328G>T		100	0		99	4	NM_001184824	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Splice_Site	SNP	ENST00000339507.5	37	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708414	0.68615	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5181	0.84306	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT7	66912829	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	9.149000	0.94659	2.574000	0.86865	0.462000	0.41574	.	.		0.338	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023	Intron	T	68355328	G	T	68355328	5	4	1	1	0	0	0	0	0	0	1	0	12583	1014	35	3	101	3	PRMT7	16	68355328	Splice_Site	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	15881813	68355328	21999425	126	126											
HYDIN	54768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	71015307	71015307	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr16:71015307G>A	ENST00000393567.2	-	29	4647	c.4497C>T	c.(4495-4497)ccC>ccT	p.P1499P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1499					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)				TGAGGTTCCTGGGGAGATCGA	0.468																																					p.P1499P		.											.	.	.	0			c.C4497T						.						89	85	86					16																	71015307		1860	4083	5943	SO:0001819	synonymous_variant	54768	exon29			GTTCCTGGGGAGA	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.4497C>T	16.37:g.71015307G>A		47	0		71	9	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																			.		0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	71015307	G	A	71015307	2	1	1	1	0	0	0	0	0	0	0	1	7494	1335	47	3		3	HYDIN	16	71015307	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	2659979	71015307	19339446	127	127											
GLG1	2734	hgsc.bcm.edu	37	16	74502875	74502875	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr16:74502875C>T	ENST00000422840.2	-	17	2404	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	GLG1_ENST00000447066.2_Missense_Mutation_p.R791H|GLG1_ENST00000205061.5_Missense_Mutation_p.R802H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	802					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)	p.R802H(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GAGCTGCCTGCGGCACTTCAG	0.612																																					p.R802H		.											GLG1,NS,carcinoma,0,1	GLG1	0	1	Substitution - Missense(1)	breast(1)	c.G2405A						.						60	50	54					16																	74502875		2198	4300	6498	SO:0001583	missense	2734	exon17			TGCCTGCGGCACT		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.2405G>A	16.37:g.74502875C>T	ENSP00000405984:p.Arg802His	39	0		42	3	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544072	0.96488	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.973;0.975;0.976	T	0.81571	-0.0872	9	0.72032	D	0.01	-19.6127	19.456	0.94889	0.0:1.0:0.0:0.0	.	802;802;791	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	H	802;791;802	.	ENSP00000205061:R802H	R	-	2	0	GLG1	73060376	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.814000	0.86154	2.598000	0.87819	0.467000	0.42956	CGC	.		0.612	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		T	74502875	C	T	74502875	3	4	1	1	0	0	0	0	1	0	0	0	6462	768	27	1	1254	1	GLG1	16	74502875	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	3487568	74502875	15851878	128	128											
ADAMTS18	170692	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	77353780	77353780	+	Missense_Mutation	SNP	G	G	A	rs147816593		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr16:77353780G>A	ENST00000282849.5	-	16	2916	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				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						GGGCCCTGGCGCGTACAGACG	0.542																																					p.A833V		.											ADAMTS18,rectum,carcinoma,0,3	ADAMTS18	0	0			c.C2498T						.	G	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	61	60	60		2498	5.5	0.2	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	ADAMTS18	NM_199355.2	64	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	833/1222	77353780	1,12995	2198	4300	6498	SO:0001583	missense	170692	exon16			CCTGGCGCGTACA	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.2498C>T	16.37:g.77353780G>A	ENSP00000282849:p.Ala833Val	49	0		70	6	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141924	0.77775	2.27E-4	0.0	ENSG00000140873	ENST00000282849	T	0.56941	0.43	5.54	5.54	0.83059	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.81914	0.897;0.995	T	0.81191	-0.1045	10	0.87932	D	0	.	18.4764	0.90793	0.0:0.0:1.0:0.0	.	833;833	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	V	833	ENSP00000282849:A833V	ENSP00000282849:A833V	A	-	2	0	ADAMTS18	75911281	1.000000	0.71417	0.242000	0.24170	0.254000	0.26022	9.378000	0.97191	2.618000	0.88619	0.563000	0.77884	GCG	0.000		0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			A	77353780	G	A	77353780	3	1	1	1	0	0	0	0	1	0	0	0	263	1087	38	1	1199	1	ADAMTS18	16	77353780	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	2850905	77353780	13000973	129	129											
ZCCHC14	23174	bcgsc.ca	37	16	87446484	87446484	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr16:87446484G>T	ENST00000268616.4	-	12	1649	c.1432C>A	c.(1432-1434)Cct>Act	p.P478T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	478							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)		TTCTGCACAGGGAGAACCTGG	0.592																																					p.P478T													.	ZCCHC14	87	0			c.C1432A						.						69	72	71					16																	87446484		2198	4300	6498	SO:0001583	missense	23174	exon12			GCACAGGGAGAAC	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.1432C>A	16.37:g.87446484G>T	ENSP00000268616:p.Pro478Thr	30	0		41	4	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062649	0.76187	.	.	ENSG00000140948	ENST00000268616	T	0.21932	1.98	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11060	-1.0603	10	0.62326	D	0.03	-21.9659	19.8234	0.96607	0.0:0.0:1.0:0.0	.	478;478	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	T	478	ENSP00000268616:P478T	ENSP00000268616:P478T	P	-	1	0	ZCCHC14	86003985	1.000000	0.71417	0.891000	0.34965	0.812000	0.45895	8.724000	0.91462	2.677000	0.91161	0.462000	0.41574	CCT	.		0.592	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		T	87446484	G	T	87446484	3	4	1	1	0	0	0	0	1	0	0	0	17631	1232	43	3	1425	3	ZCCHC14	16	87446484	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	10092704	87446484	2908269	130	130											
CHRNB1	1140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7357773	7357773	+	Silent	SNP	T	T	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:7357773T>C	ENST00000306071.2	+	8	1045	c.978T>C	c.(976-978)agT>agC	p.S326S	CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000576360.1_Silent_p.S205S|CHRNB1_ENST00000536404.2_Silent_p.S254S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	326					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCATCCTTAGTGTCGTGGTTC	0.502																																					p.S326S		.											.	.	.	0			c.T978C						.						234	195	208					17																	7357773		2203	4300	6503	SO:0001819	synonymous_variant	1140	exon8			CCTTAGTGTCGTG	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.978T>C	17.37:g.7357773T>C		27	0		39	5	NM_000747	B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	CCDS11106.1																																																																																			.		0.502	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			C	7357773	T	C	7357773	2	2	1	1	0	0	0	0	0	0	0	1	3397	1693	59	4		4	CHRNB1	17	7357773	Silent	SNP	T	TCGA-3X-AAV9-01A-72D-A417-09		7357773	73837437	131	131											
SUPT6H	6830	hgsc.bcm.edu	37	17	27008381	27008381	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:27008381G>A	ENST00000314616.6	+	12	1740	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R486H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	486	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)	p.R486L(1)		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)					AAAGCTAGCCGCAAGAAGCTG	0.468																																					p.R486H		.											SUPT6H,NS,carcinoma,0,1	SUPT6H	0	1	Substitution - Missense(1)	endometrium(1)	c.G1457A						.						83	78	79					17																	27008381		2203	4300	6503	SO:0001583	missense	6830	exon12			CTAGCCGCAAGAA	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.1457G>A	17.37:g.27008381G>A	ENSP00000319104:p.Arg486His	35	0		46	2	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363395	0.82353	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.75	5.75	0.90469	.	0.059124	0.64402	D	0.000002	T	0.28632	0.0709	N	0.08118	0	0.53688	D	0.999979	D	0.58268	0.982	B	0.41036	0.346	T	0.12967	-1.0527	9	0.45353	T	0.12	-12.5539	13.1811	0.59655	0.0728:0.0:0.9272:0.0	.	486	Q7KZ85	SPT6H_HUMAN	H	486	.	ENSP00000319104:R486H	R	+	2	0	SUPT6H	24032508	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.656000	0.74396	2.720000	0.93068	0.655000	0.94253	CGC	.		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		A	27008381	G	A	27008381	3	1	1	1	0	0	0	0	1	0	0	0	15447	1087	38	1	1499	1	SUPT6H	17	27008381	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	19650608	27008381	54186829	132	132											
KRTAP4-3	85290	hgsc.bcm.edu	37	17	39324095	39324095	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:39324095G>A	ENST00000391356.2	-	1	329	c.330C>T	c.(328-330)tgC>tgT	p.C110C		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	110	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)				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)			AGGAAGGCCTGCAGCAACTAG	0.612																																					p.C110C		.											.	.	.	0			c.C330T						.						19	24	22					17																	39324095		2123	4254	6377	SO:0001819	synonymous_variant	85290	exon1			AGGCCTGCAGCAA	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.330C>T	17.37:g.39324095G>A		88	0		87	4	NM_033187		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			.		0.612	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			A	39324095	G	A	39324095	2	1	1	1	0	0	0	0	0	0	0	1	8580	1311	46	3		3	KRTAP4-3	17	39324095	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	12315714	39324095	41871115	133	133											
CDC27	996	hgsc.bcm.edu	37	17	45234357	45234357	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:45234357G>T	ENST00000066544.3	-	7	857	c.764C>A	c.(763-765)tCt>tAt	p.S255Y	CDC27_ENST00000446365.2_Missense_Mutation_p.S194Y|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Missense_Mutation_p.S255Y|CDC27_ENST00000527547.1_Missense_Mutation_p.S255Y	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	255					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						AACCTGTTTAGATAATATGGA	0.383																																					p.S255Y		.											.	.	.	0			c.C764A						.						55	61	59					17																	45234357		2199	4295	6494	SO:0001583	missense	996	exon7			TGTTTAGATAATA	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.764C>A	17.37:g.45234357G>T	ENSP00000066544:p.Ser255Tyr	79	0		120	4	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227484	0.58668	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.70631	-0.49;-0.45;-0.17;-0.5;0.76	5.64	5.64	0.86602	.	0.127889	0.52532	D	0.000064	T	0.57695	0.2071	N	0.14661	0.345	0.51767	D	0.999938	B;B;B;B	0.26081	0.055;0.141;0.001;0.001	B;B;B;B	0.25884	0.03;0.064;0.003;0.001	T	0.58070	-0.7701	10	0.62326	D	0.03	-1.7126	17.2083	0.86924	0.0:0.0:1.0:0.0	.	194;255;255;255	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Y	255;255;194;255;255	ENSP00000066544:S255Y;ENSP00000434614:S255Y;ENSP00000392802:S194Y;ENSP00000437339:S255Y;ENSP00000432105:S255Y	ENSP00000066544:S255Y	S	-	2	0	CDC27	42589356	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.145000	0.71769	2.665000	0.90641	0.460000	0.39030	TCT	.		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234357	G	T	45234357	3	4	1	1	0	0	0	0	1	0	0	0	3073	942	33	3	1780	3	CDC27	17	45234357	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	5910262	45234357	35960853	134	134											
AKAP1	8165	hgsc.bcm.edu	37	17	55195744	55195744	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:55195744G>A	ENST00000337714.3	+	9	2736	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	AKAP1_ENST00000571629.1_Missense_Mutation_p.D835N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D835N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D835N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	835					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)					TCCTGAAGACGATGACCAGTT	0.532																																					p.D835N		.											AKAP1,middle_lobe,carcinoma,0,2	AKAP1	0	0			c.G2503A						.						112	97	102					17																	55195744		2203	4300	6503	SO:0001583	missense	8165	exon10			GAAGACGATGACC	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.2503G>A	17.37:g.55195744G>A	ENSP00000337736:p.Asp835Asn	26	0		46	2	NM_001242902	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782703	0.70222	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.15372	2.43;2.43	5.08	5.08	0.68730	.	0.098627	0.64402	D	0.000002	T	0.24812	0.0602	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.55923	0.787	T	0.00995	-1.1487	10	0.51188	T	0.08	.	17.6397	0.88132	0.0:0.0:1.0:0.0	.	835	Q92667	AKAP1_HUMAN	N	835;877;835	ENSP00000337736:D835N;ENSP00000443139:D835N	ENSP00000337736:D835N	D	+	1	0	AKAP1	52550743	1.000000	0.71417	0.999000	0.59377	0.410000	0.31052	7.846000	0.86887	2.643000	0.89663	0.650000	0.86243	GAT	.		0.532	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			A	55195744	G	A	55195744	3	1	1	1	0	0	0	0	1	0	0	0	445	1058	37	1	2533	1	AKAP1	17	55195744	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	9961387	55195744	25999466	135	135											
PRR11	55771	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	57247159	57247159	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:57247159G>A	ENST00000262293.4	+	2	358	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	16						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGCCAAAGCCGAAAGATTATT	0.358																																					p.E16K		.											.	.	.	0			c.G46A						.						75	74	74					17																	57247159		2203	4300	6503	SO:0001583	missense	55771	exon2			AAAGCCGAAAGAT		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.46G>A	17.37:g.57247159G>A	ENSP00000262293:p.Glu16Lys	101	0		138	11	NM_018304	Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	A	8.740	0.918811	0.17982	.	.	ENSG00000068489	ENST00000262293	.	.	.	4.79	3.7	0.42460	.	0.094927	0.45606	N	0.000343	T	0.07458	0.0188	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	9	0.02654	T	1	-8.252	5.1752	0.15131	0.726:0.1808:0.0932:0.0	.	16	Q96HE9	PRR11_HUMAN	K	16	.	ENSP00000262293:E16K	E	+	1	0	PRR11	54601941	0.997000	0.39634	0.439000	0.26833	0.366000	0.29705	2.173000	0.42472	0.407000	0.25591	-1.589000	0.00846	GAA	.		0.358	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		A	57247159	G	A	57247159	3	1	1	1	0	0	0	0	1	0	0	0	12625	1059	37	1	48	1	PRR11	17	57247159	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	2051415	57247159	23948051	136	136											
CCDC45	90799	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	62533848	62533848	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:62533848C>G	ENST00000556440.2	+	20	2927	c.2417C>G	c.(2416-2418)tCt>tGt	p.S806C	CEP95_ENST00000553412.1_Missense_Mutation_p.S642C	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	806						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CGCTTCAGATCTCGGCTTCAG	0.468																																					p.S806C		.											.	.	.	0			c.C2417G						.						49	49	49					17																	62533848		1895	4118	6013	SO:0001583	missense	90799	exon20			TCAGATCTCGGCT	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2417C>G	17.37:g.62533848C>G	ENSP00000450461:p.Ser806Cys	75	0		76	6	NM_138363	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074966	0.36566	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.34275	1.37;1.38	5.91	4.93	0.64822	.	0.793280	0.12105	N	0.499108	T	0.33990	0.0882	L	0.36672	1.1	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.27434	-1.0074	10	0.52906	T	0.07	-1.9385	15.4492	0.75259	0.0:0.7374:0.2626:0.0	.	806	Q96GE4	CEP95_HUMAN	C	741;806;642	ENSP00000450461:S806C;ENSP00000450906:S642C	ENSP00000438458:S741C	S	+	2	0	CEP95	59964310	0.921000	0.31238	0.093000	0.20910	0.996000	0.88848	2.791000	0.47829	1.495000	0.48549	0.462000	0.41574	TCT	.		0.468	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		G	62533848	C	G	62533848	3	3	1	1	0	0	0	0	1	0	0	0	2823	913	32	5	2495	5	CCDC45	17	62533848	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	5286689	62533848	18661362	137	137											
KIF19	124602	broad.mit.edu	37	17	72340424	72340424	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:72340424G>T	ENST00000389916.4	+	6	657	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	173	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						AGCTGCGGGAGGACTCTAAGG	0.627																																					p.E173D													.	KIF19	102	0			c.G519T						.						44	44	44					17																	72340424		2202	4300	6502	SO:0001583	missense	124602	exon6			GCGGGAGGACTCT	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.519G>T	17.37:g.72340424G>T	ENSP00000374566:p.Glu173Asp	21	0		34	3	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519928	0.44866	.	.	ENSG00000196169	ENST00000389916	T	0.77877	-1.13	5.79	1.54	0.23209	Kinesin, motor domain (4);	.	.	.	.	D	0.83064	0.5173	L	0.60455	1.87	0.53005	D	0.999966	D;D	0.71674	0.998;0.958	D;P	0.77557	0.99;0.9	T	0.81165	-0.1057	9	0.62326	D	0.03	.	9.4361	0.38639	0.3724:0.0:0.6276:0.0	.	173;173	Q2TAC6;Q2TAC6-2	KIF19_HUMAN;.	D	173	ENSP00000374566:E173D	ENSP00000374566:E173D	E	+	3	2	KIF19	69852019	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	2.316000	0.43761	0.376000	0.24707	-0.274000	0.10170	GAG	.		0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		T	72340424	G	T	72340424	3	4	1	1	0	0	0	0	1	0	0	0	8309	991	35	3	541	3	KIF19	17	72340424	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	9806576	72340424	8854786	138	138											
KIAA0195	9772	hgsc.bcm.edu	37	17	73482012	73482012	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:73482012G>T	ENST00000314256.7	+	4	599	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.G79W	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	69						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)			CCACTGGCCGGGGGCCTCACT	0.667																																					p.G69W		.											.	.	.	0			c.G205T						.						25	24	24					17																	73482012		2203	4299	6502	SO:0001583	missense	9772	exon4			TGGCCGGGGGCCT		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.205G>T	17.37:g.73482012G>T	ENSP00000313885:p.Gly69Trp	75	0		100	4	NM_014738	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843778	0.51164	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.88431	-2.38;-2.38	5.09	5.09	0.68999	.	0.115763	0.56097	D	0.000024	D	0.90820	0.7117	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.98;0.999	D	0.92561	0.6058	10	0.87932	D	0	-24.8321	18.0985	0.89498	0.0:0.0:1.0:0.0	.	79;69	C9JL75;Q12767	.;K0195_HUMAN	W	69;79	ENSP00000313885:G69W;ENSP00000364397:G79W	ENSP00000313885:G69W	G	+	1	0	KIAA0195	70993607	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	7.250000	0.78287	2.363000	0.80096	0.561000	0.74099	GGG	.		0.667	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		T	73482012	G	T	73482012	3	4	1	1	0	0	0	0	1	0	0	0	8187	1232	43	3	215	3	KIAA0195	17	73482012	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	1141588	73482012	7713198	139	139											
GPS1	2873	hgsc.bcm.edu	37	17	80012466	80012466	+	Missense_Mutation	SNP	C	C	T	rs139982509		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr17:80012466C>T	ENST00000306823.6	+	4	424	c.401C>T	c.(400-402)aCg>aTg	p.T134M	GPS1_ENST00000320548.4_Missense_Mutation_p.T114M|GPS1_ENST00000355130.2_Missense_Mutation_p.T170M|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.T170M|GPS1_ENST00000578552.1_Missense_Mutation_p.T130M			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	134					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	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;0.0211)			GTGGAGGCCACGCGGAAGAAG	0.647																																					p.T170M		.											.	.	.	0			c.C509T						.	C	MET/THR,MET/THR	0,4382		0,0,2191	27	23	24		401,509	3.8	0.9	17	dbSNP_134	24	2,8586		0,2,4292	no	missense,missense	GPS1	NM_004127.4,NM_212492.1	81,81	0,2,6483	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	134/492,170/528	80012466	2,12968	2191	4294	6485	SO:0001583	missense	2873	exon4			AGGCCACGCGGAA		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.401C>T	17.37:g.80012466C>T	ENSP00000302873:p.Thr134Met	83	0		97	4	NM_212492	Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223163	0.39300	0.0	2.33E-4	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	.	.	.	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.72075	0.954;0.976;0.975;0.923;0.965;0.959	T	0.82594	-0.0380	9	0.66056	D	0.02	-25.4788	15.9283	0.79639	0.0:1.0:0.0:0.0	.	126;170;119;130;134;170	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	M	170;120;134;170;55	.	ENSP00000302873:T134M	T	+	2	0	GPS1	77605755	1.000000	0.71417	0.916000	0.36221	0.795000	0.44927	6.989000	0.76219	1.981000	0.57761	0.313000	0.20887	ACG	0.000		0.647	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		T	80012466	C	T	80012466	3	4	1	1	0	0	0	0	1	0	0	0	6759	536	19	1	572	1	GPS1	17	80012466	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	6530454	80012466	1182744	140	140											
ROCK1	6093	broad.mit.edu	37	18	18608854	18608854	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr18:18608854G>C	ENST00000399799.2	-	10	2034	c.1094C>G	c.(1093-1095)aCt>aGt	p.T365S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	365	AGC-kinase C-terminal.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|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 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)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAAATTACTAGTATCAATGTC	0.338																																					p.T365S													.	ROCK1	162	0			c.C1094G						.						142	144	143					18																	18608854		2203	4299	6502	SO:0001583	missense	6093	exon10			TTACTAGTATCAA		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1094C>G	18.37:g.18608854G>C	ENSP00000382697:p.Thr365Ser	39	0		67	3	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204312	0.58234	.	.	ENSG00000067900	ENST00000399799	T	0.68903	-0.36	5.67	4.8	0.61643	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.051730	0.85682	N	0.000000	T	0.77818	0.4187	M	0.83384	2.64	0.80722	D	1	P	0.49635	0.926	P	0.51895	0.683	T	0.79918	-0.1600	10	0.41790	T	0.15	.	16.7135	0.85392	0.0:0.1294:0.8706:0.0	.	365	Q13464	ROCK1_HUMAN	S	365	ENSP00000382697:T365S	ENSP00000382697:T365S	T	-	2	0	ROCK1	16862852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.639000	0.74314	1.375000	0.46248	0.655000	0.94253	ACT	.		0.338	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		C	18608854	G	C	18608854	3	2	1	1	0	0	0	0	1	0	0	0	13562	1029	36	5	3066	5	ROCK1	18	18608854	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		18608854	59468394	141	141											
PRR22	163154	broad.mit.edu	37	19	5784655	5784655	+	Missense_Mutation	SNP	G	G	A	rs543083484		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:5784655G>A	ENST00000419421.2	-	1	121	c.17C>T	c.(16-18)cCg>cTg	p.P6L	CTB-54O9.9_ENST00000586012.1_Intron	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	6										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGCACAGAACGGTTTGGGGTG	0.682													G|||	1	0.000199681	0	0	5008	,	,		14608	0.001		0	False		,,,				2504	0				p.P6L													.	PRR22	25	0			c.C17T						.						12	13	13					19																	5784655		690	1587	2277	SO:0001583	missense	163154	exon1			CAGAACGGTTTGG	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.17C>T	19.37:g.5784655G>A	ENSP00000407653:p.Pro6Leu	14	0		30	3	NM_001134316	E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913177	0.17907	.	.	ENSG00000212123	ENST00000419421	T	0.17054	2.3	4.57	2.32	0.28847	.	.	.	.	.	T	0.07999	0.0200	N	0.08118	0	0.23704	N	0.997069	P	0.46327	0.876	B	0.36766	0.232	T	0.17961	-1.0352	9	0.66056	D	0.02	.	9.2513	0.37557	0.0:0.1585:0.6773:0.1642	.	6	E9PB31	.	L	6	ENSP00000407653:P6L	ENSP00000407653:P6L	P	-	2	0	PRR22	5735655	0.008000	0.16893	0.369000	0.25952	0.010000	0.07245	1.565000	0.36386	0.597000	0.29811	0.555000	0.69702	CCG	.		0.682	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		A	5784655	G	A	5784655	3	1	1	1	0	0	0	0	1	0	0	0	12635	1116	39	1	1263	1	PRR22	19	5784655	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		5784655	53344328	142	142											
ADAMTS10	81794	ucsc.edu	37	19	8651483	8651483	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:8651483G>T	ENST00000597188.1	-	20	2632	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.L788I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.L275I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	788	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						AGGGCTTCGAGGCTCTGGACC	0.612											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L788I													.	ADAMTS10	132	0			c.C2362A						.						69	72	71					19																	8651483		2203	4300	6503	SO:0001583	missense	81794	exon20			CTTCGAGGCTCTG	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.2362C>A	19.37:g.8651483G>T	ENSP00000471851:p.Leu788Ile	23	0	81	32	4	NM_030957	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447569	0.63178	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.60299	0.2	5.01	3.98	0.46160	ADAM-TS Spacer 1 (1);	0.000000	0.64402	U	0.000016	T	0.69070	0.3070	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	0.977;1.0;1.0	P;D;D	0.91635	0.852;0.999;0.999	T	0.65368	-0.6185	10	0.15499	T	0.54	.	12.4962	0.55929	0.0809:0.0:0.9191:0.0	.	542;788;275	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	I	788;542	ENSP00000270328:L788I	ENSP00000270328:L788I	L	-	1	0	ADAMTS10	8557483	1.000000	0.71417	0.956000	0.39512	0.262000	0.26303	4.527000	0.60573	1.113000	0.41760	0.655000	0.94253	CTC	.		0.612	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8651483	G	T	8651483	3	4	1	1	0	0	0	0	1	0	0	0	256	1000	35	3	977	3	ADAMTS10	19	8651483	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	2866828	8651483	50477500	143	143											
TSPAN16	26526	hgsc.bcm.edu;bcgsc.ca	37	19	11408920	11408920	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:11408920G>T	ENST00000316737.1	+	2	322	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	TSPAN16_ENST00000590327.1_Missense_Mutation_p.G58C|TSPAN16_ENST00000592955.1_Missense_Mutation_p.G58C|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	58						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CCTTCACGTTGGCAACCTGTG	0.567																																					p.G58C		.											.	.	.	0			c.G172T						.						161	126	138					19																	11408920		2203	4300	6503	SO:0001583	missense	26526	exon2			CACGTTGGCAACC	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"Tetraspanins"	30725	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 16"	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.172G>T	19.37:g.11408920G>T	ENSP00000319486:p.Gly58Cys	48	0		64	4	NM_012466	K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226818	0.39399	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.80214	-1.35;-1.35	3.57	0.144	0.14824	.	0.215088	0.23793	N	0.044507	D	0.84848	0.5563	M	0.72118	2.19	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.73729	-0.3891	10	0.62326	D	0.03	-9.3434	5.5212	0.16933	0.4022:0.0:0.5978:0.0	.	58	Q9UKR8	TSN16_HUMAN	C	58	ENSP00000319486:G58C;ENSP00000338759:G58C	ENSP00000319486:G58C	G	+	1	0	TSPAN16	11269920	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.206000	0.17375	0.113000	0.18004	0.462000	0.41574	GGC	.		0.567	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		T	11408920	G	T	11408920	3	4	1	1	0	0	0	0	1	0	0	0	16688	1348	47	3	178	3	TSPAN16	19	11408920	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	2757437	11408920	47720063	144	144											
OR7A5	26659	hgsc.bcm.edu	37	19	14938184	14938184	+	Silent	SNP	A	A	G	rs200531878		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	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		.											OR7A5,NS,carcinoma,0,1	OR7A5	0	2	Substitution - coding silent(2)	kidney(2)	c.T870C						.						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		53	0		75	3	NM_017506	B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																			0.001		0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		G	14938184	A	G	14938184	2	3	1	1	0	0	0	0	0	0	0	1	11255	456	16	4		4	OR7A5	19	14938184	Silent	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	3529264	14938184	44190799	145	145											
ZNF208	7757	hgsc.bcm.edu;broad.mit.edu	37	19	22157034	22157034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:22157034G>A	ENST00000397126.4	-	4	950	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	268					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)				ATTGCAGATTGGTTAAAAGCC	0.368																																					p.Q268X		.											.	.	.	0			c.C802T						.						33	36	35					19																	22157034		2134	4262	6396	SO:0001587	stop_gained	7757	exon4			CAGATTGGTTAAA	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.802C>T	19.37:g.22157034G>A	ENSP00000380315:p.Gln268*	45	0		55	5	NM_007153		Nonsense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851625	0.51270	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.89	-5.78	0.02362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	3.2759	0.06898	0.3022:0.0:0.3602:0.3376	.	.	.	.	X	268	.	ENSP00000380315:Q268X	Q	-	1	0	ZNF208	21948874	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.038000	0.03553	-2.590000	0.00457	-2.635000	0.00153	CAA	.		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22157034	G	A	22157034	4	1	1	1	0	0	0	0	0	1	0	0	17814	1357	47	3	3044	3	ZNF208	19	22157034	Nonsense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	7218850	22157034	36971949	146	146											
NUMBL	9253	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	41183174	41183174	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:41183174C>T	ENST00000252891.4	-	7	860	c.693G>A	c.(691-693)ggG>ggA	p.G231G	NUMBL_ENST00000540131.1_Silent_p.G190G|NUMBL_ENST00000598779.1_Silent_p.G190G	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	231					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)			CAGCAGGCCGCCCACCCCCAG	0.667																																					p.G231G		.											.	.	.	0			c.G693A						.						19	18	18					19																	41183174		2191	4280	6471	SO:0001819	synonymous_variant	9253	exon7			AGGCCGCCCACCC	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.693G>A	19.37:g.41183174C>T		65	0		71	5	NM_004756	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			.		0.667	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		T	41183174	C	T	41183174	2	4	1	1	0	0	0	0	0	0	0	1	10791	726	26	3		3	NUMBL	19	41183174	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	19026140	41183174	17945809	147	147											
MARK4	57787	hgsc.bcm.edu;bcgsc.ca	37	19	45790748	45790748	+	Silent	SNP	G	G	T	rs112982501		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:45790748G>T	ENST00000262891.4	+	13	1651	c.1320G>T	c.(1318-1320)acG>acT	p.T440T	MARK4_ENST00000300843.4_Silent_p.T440T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	440					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAGCCCGACGAGCACGGGGG	0.701																																					p.T440T		.											.	.	.	0			c.G1320T						.						9	11	11					19																	45790748		2154	4233	6387	SO:0001819	synonymous_variant	57787	exon13			CCCGACGAGCACG	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1320G>T	19.37:g.45790748G>T		63	0		70	4	NM_001199867	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	9.848	1.192819	0.21954	.	.	ENSG00000007047	ENST00000262893	.	.	.	5.06	0.439	0.16567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	1.904	0.03273	0.1401:0.332:0.3416:0.1863	.	.	.	.	X	405	.	ENSP00000262893:E405X	E	+	1	0	MARK4	50482588	0.774000	0.28592	1.000000	0.80357	0.891000	0.51852	-0.158000	0.10070	0.737000	0.32582	0.591000	0.81541	GAG	.		0.701	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		T	45790748	G	T	45790748	2	4	1	1	0	0	0	0	0	0	0	1	9353	1045	37	2		2	MARK4	19	45790748	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	4607574	45790748	13338235	148	148											
KCNJ14	3770	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	48967866	48967866	+	Silent	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:48967866C>T	ENST00000391884.1	+	2	1619	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	KCNJ14_ENST00000342291.2_Silent_p.F381F|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	381					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	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;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	AGTCTAGTTTCCCCGGCTCTC	0.547																																					p.Q381H	NSCLC(148;170 3504 35216)	.											.	.	.	0			c.G1143T						.						66	68	67					19																	48967866		2203	4300	6503	SO:0001819	synonymous_variant	3770	exon3			TAGTTTCCCCGGC	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1143C>T	19.37:g.48967866C>T		24	0		24	6	NM_013348		Missense_Mutation	SNP	ENST00000391884.1	37	CCDS12721.1																																																																																			.		0.547	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		T	48967866	C	T	48967866	2	4	1	1	0	0	0	0	0	0	0	1	8075	854	30	3		3	KCNJ14	19	48967866	Silent	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	3177118	48967866	10161117	149	149											
ZNF610	162963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52852438	52852438	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr19:52852438G>A	ENST00000403906.3	+	3	469	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	ZNF610_ENST00000601151.1_Missense_Mutation_p.E5K|ZNF610_ENST00000321287.8_Missense_Mutation_p.E5K|ZNF610_ENST00000327920.8_Missense_Mutation_p.E5K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	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)			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)		GCTATGTGATGAAGAAGCCCA	0.433																																					p.E5K		.											.	.	.	0			c.G13A						.						172	149	157					19																	52852438		2203	4300	6503	SO:0001583	missense	162963	exon3			TGTGATGAAGAAG	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.13G>A	19.37:g.52852438G>A	ENSP00000383922:p.Glu5Lys	28	0		50	8	NM_001161427	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220534	0.22457	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T;T	0.05649	3.41;3.41;3.41	1.24	1.24	0.21308	.	.	.	.	.	T	0.11623	0.0283	L	0.38531	1.155	0.09310	N	1	D;D	0.60575	0.988;0.98	P;P	0.62885	0.908;0.811	T	0.19224	-1.0312	9	0.59425	D	0.04	.	5.8612	0.18747	0.0:0.0:1.0:0.0	.	5;5	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	K	5	ENSP00000383922:E5K;ENSP00000324441:E5K;ENSP00000327597:E5K	ENSP00000324441:E5K	E	+	1	0	ZNF610	57544250	0.000000	0.05858	0.036000	0.18154	0.206000	0.24218	-0.702000	0.05069	1.010000	0.39314	0.561000	0.74099	GAA	.		0.433	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		A	52852438	G	A	52852438	3	1	1	1	0	0	0	0	1	0	0	0	18084	1291	45	3	15	3	ZNF610	19	52852438	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	3884572	52852438	6276545	150	150											
C20orf26	26074	hgsc.bcm.edu	37	20	20056250	20056250	+	Missense_Mutation	SNP	G	G	T	rs200143211		TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr20:20056250G>T	ENST00000245957.5	+	6	633	c.557G>T	c.(556-558)cGc>cTc	p.R186L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R186L|C20orf26_ENST00000377306.1_Missense_Mutation_p.R186L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		186								p.R186H(1)		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)		CTGCACGTTCGCAAAGCCAGG	0.478																																					p.R186L		.											C20orf26,caecum,carcinoma,0,1	C20orf26	0	1	Substitution - Missense(1)	large_intestine(1)	c.G557T						.						139	129	132					20																	20056250		2203	4300	6503	SO:0001583	missense	26074	exon6			ACGTTCGCAAAGC																												ENST00000245957.5:c.557G>T	20.37:g.20056250G>T	ENSP00000245957:p.Arg186Leu	44	0		46	2	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430002	0.62844	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000451767;ENST00000472660	T;T;T;T;T;T	0.60299	1.1;0.2;1.1;1.1;1.1;0.2	5.9	5.9	0.94986	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	M	0.77313	2.365	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;0.997;0.999;0.997	T	0.78484	-0.2186	10	0.72032	D	0.01	.	15.7627	0.78101	0.0:0.0:1.0:0.0	.	186;186;140;186	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	L	140;186;186;186;186;186;186;82	ENSP00000345553:R140L;ENSP00000245957:R186L;ENSP00000366521:R186L;ENSP00000366518:R186L;ENSP00000414537:R186L;ENSP00000420498:R82L	ENSP00000245957:R186L	R	+	2	0	C20orf26	20004250	1.000000	0.71417	0.435000	0.26784	0.167000	0.22549	5.627000	0.67784	2.802000	0.96397	0.650000	0.86243	CGC	.		0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20056250	G	T	20056250	3	4	1	1	0	0	0	0	1	0	0	0	2113	1087	38	2	575	2	C20orf26	20	20056250	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		20056250	42969270	151	151											
SFRS6	6431	hgsc.bcm.edu	37	20	42088724	42088724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr20:42088724C>T	ENST00000244020.3	+	4	539	c.433C>T	c.(433-435)Cga>Tga	p.R145*		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	145	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.		R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|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)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCACAAGGAACGAACAAATGA	0.418																																					p.R145X		.											SRSF6_ENST00000244020,caecum,carcinoma,0,3	SRSF6_ENST00000244020	0	0			c.C433T						.						138	137	137					20																	42088724		2203	4300	6503	SO:0001587	stop_gained	6431	exon4			AAGGAACGAACAA	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.433C>T	20.37:g.42088724C>T	ENSP00000244020:p.Arg145*	43	0		38	2	NM_006275	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Nonsense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017233	0.75161	.	.	ENSG00000124193	ENST00000244020	.	.	.	6.08	6.08	0.98989	.	0.044791	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4436	0.94836	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000244020:R145X	R	+	1	2	SRSF6	41522138	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.005000	0.70716	2.894000	0.99253	0.591000	0.81541	CGA	.		0.418	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		T	42088724	C	T	42088724	4	4	1	1	0	0	0	0	0	1	0	0	14226	528	19	1	447	1	SFRS6	20	42088724	Nonsense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	22032474	42088724	20936796	152	152											
SLC13A3	64849	hgsc.bcm.edu	37	20	45192078	45192078	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr20:45192078G>T	ENST00000279027.4	-	12	1625	c.1607C>A	c.(1606-1608)tCt>tAt	p.S536Y	SLC13A3_ENST00000435032.1_Missense_Mutation_p.S121Y|SLC13A3_ENST00000396360.1_Missense_Mutation_p.S454Y|SLC13A3_ENST00000495082.1_Missense_Mutation_p.S489Y|SLC13A3_ENST00000472148.1_Missense_Mutation_p.S454Y|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S486Y|SLC13A3_ENST00000290317.5_Missense_Mutation_p.S489Y	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	536					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)	p.S536Y(1)		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)	CAAGTGTCCAGAGGCGAAGGC	0.622																																					p.S536Y		.											SLC13A3,NS,carcinoma,0,1	SLC13A3	0	1	Substitution - Missense(1)	lung(1)	c.C1607A						.						44	40	41					20																	45192078		2203	4300	6503	SO:0001583	missense	64849	exon12			TGTCCAGAGGCGA	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.1607C>A	20.37:g.45192078G>T	ENSP00000279027:p.Ser536Tyr	45	0		43	2	NM_022829	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712373	0.30322	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02;4.02	5.36	5.36	0.76844	.	0.177988	0.51477	D	0.000088	T	0.09512	0.0234	L	0.33753	1.03	0.80722	D	1	B;D;P;B;B;D	0.76494	0.399;0.998;0.545;0.138;0.45;0.999	B;D;B;B;B;D	0.74348	0.34;0.983;0.325;0.085;0.33;0.975	T	0.18366	-1.0339	10	0.02654	T	1	-9.1489	19.0927	0.93233	0.0:0.0:1.0:0.0	.	486;121;454;489;438;536	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	Y	489;454;121;536;454;486;489	ENSP00000290317:S489Y;ENSP00000379648:S454Y;ENSP00000403394:S121Y;ENSP00000279027:S536Y;ENSP00000420177:S454Y;ENSP00000415852:S486Y;ENSP00000419621:S489Y	ENSP00000279027:S536Y	S	-	2	0	SLC13A3	44625485	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.445000	0.73456	2.514000	0.84764	0.561000	0.74099	TCT	.		0.622	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			T	45192078	G	T	45192078	3	4	1	1	0	0	0	0	1	0	0	0	14438	942	33	3	209	3	SLC13A3	20	45192078	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	3103354	45192078	17833442	153	153											
SLC2A10	81031	hgsc.bcm.edu	37	20	45358084	45358084	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr20:45358084G>T	ENST00000359271.2	+	4	1754	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	502					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGAAACAAAAGGCCAGTCGTT	0.552																																					p.G502C		.											.	.	.	0			c.G1504T						.						67	65	66					20																	45358084		2203	4300	6503	SO:0001583	missense	81031	exon4			ACAAAAGGCCAGT	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1504G>T	20.37:g.45358084G>T	ENSP00000352216:p.Gly502Cys	41	0		75	4	NM_030777	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955302	0.92726	.	.	ENSG00000197496	ENST00000359271	T	0.80123	-1.34	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95552	0.8621	10	0.87932	D	0	-22.4576	19.8917	0.96932	0.0:0.0:1.0:0.0	.	502	O95528	GTR10_HUMAN	C	502	ENSP00000352216:G502C	ENSP00000352216:G502C	G	+	1	0	SLC2A10	44791491	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.390000	0.79816	2.705000	0.92388	0.591000	0.81541	GGC	.		0.552	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			T	45358084	G	T	45358084	3	4	1	1	0	0	0	0	1	0	0	0	14584	1000	35	3	1518	3	SLC2A10	20	45358084	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	166006	45358084	17667436	154	154											
TUBB1	81027	bcgsc.ca	37	20	57594614	57594614	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr20:57594614G>A	ENST00000217133.1	+	1	306	c.37G>A	c.(37-39)Ggc>Agc	p.G13S		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	13					'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)	TGGCCAGTGTGGCAACCAGAT	0.463																																					p.G13S													.	TUBB1	42	0			c.G37A						.						159	139	145					20																	57594614		2203	4300	6503	SO:0001583	missense	81027	exon1			CAGTGTGGCAACC	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.37G>A	20.37:g.57594614G>A	ENSP00000217133:p.Gly13Ser	36	0		53	4	NM_030773		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	36	5.917551	0.97105	.	.	ENSG00000101162	ENST00000217133	D	0.89746	-2.56	5.51	5.51	0.81932	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	H	0.99973	5.135	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.99675	1.0997	10	0.87932	D	0	.	18.3873	0.90471	0.0:0.0:1.0:0.0	.	13	Q9H4B7	TBB1_HUMAN	S	13	ENSP00000217133:G13S	ENSP00000217133:G13S	G	+	1	0	TUBB1	57028009	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.764000	0.98949	2.592000	0.87571	0.563000	0.77884	GGC	.		0.463	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		A	57594614	G	A	57594614	3	1	1	1	0	0	0	0	1	0	0	0	16802	1348	47	3	39	3	TUBB1	20	57594614	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	12236530	57594614	5430906	155	155											
C2CD2	25966	hgsc.bcm.edu	37	21	43327232	43327232	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr21:43327232G>T	ENST00000380486.3	-	10	1428	c.1187C>A	c.(1186-1188)cCt>cAt	p.P396H	C2CD2_ENST00000329623.7_Missense_Mutation_p.P241H	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	396						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.P396fs*9(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AACAGGGGGAGGGATGGGCCA	0.522																																					p.P396H		.											.,1	.	47	1	Deletion - Frameshift(1)	ovary(1)	c.C1187A						.						68	65	66					21																	43327232		2203	4300	6503	SO:0001583	missense	25966	exon10			GGGGGAGGGATGG	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.1187C>A	21.37:g.43327232G>T	ENSP00000369853:p.Pro396His	36	0		35	3	NM_015500	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151242	0.78001	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.76709	-1.04;-1.04	4.9	4.9	0.64082	C2 calcium/lipid-binding domain, CaLB (1);	0.107611	0.64402	D	0.000003	D	0.84374	0.5458	L	0.48642	1.525	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	D	0.86081	0.1544	10	0.72032	D	0.01	-12.32	18.0791	0.89437	0.0:0.0:1.0:0.0	.	241;396	Q6P6D1;Q9Y426	.;CU025_HUMAN	H	241;396	ENSP00000329302:P241H;ENSP00000369853:P396H	ENSP00000329302:P241H	P	-	2	0	C2CD2	42200301	1.000000	0.71417	0.028000	0.17463	0.036000	0.12997	6.024000	0.70857	2.413000	0.81919	0.655000	0.94253	CCT	.		0.522	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		T	43327232	G	T	43327232	3	4	1	1	0	0	0	0	1	0	0	0	2159	1000	35	3	923	3	C2CD2	21	43327232	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		43327232	4802663	156	156											
TXNRD2	10587	hgsc.bcm.edu	37	22	19865952	19865952	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr22:19865952G>A	ENST00000400521.1	-	15	1290	c.1284C>T	c.(1282-1284)caC>caT	p.H428H	TXNRD2_ENST00000535882.1_Silent_p.H427H|TXNRD2_ENST00000400518.1_Silent_p.H398H|TXNRD2_ENST00000542719.1_Silent_p.H398H|TXNRD2_ENST00000400519.1_Silent_p.H427H	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	428					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TATAATGGGCGTGATAGACCT	0.562																																					.		.											TXNRD2,NS,carcinoma,0,1	TXNRD2	0	0			.						.						138	150	146					22																	19865952		2111	4241	6352	SO:0001819	synonymous_variant	10587	p.H428H			ATGGGCGTGATAG	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1284C>T	22.37:g.19865952G>A		34	0		31	2	.	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	CCDS42981.1																																																																																			.		0.562	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		A	19865952	G	A	19865952	2	1	1	1	0	0	0	0	0	0	0	1	16857	1136	40	1		1	TXNRD2	22	19865952	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		19865952	31438614	157	157											
PI4KA	5297	hgsc.bcm.edu;bcgsc.ca	37	22	21153979	21153979	+	Silent	SNP	G	G	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr22:21153979G>A	ENST00000572273.1	-	15	1856	c.1626C>T	c.(1624-1626)taC>taT	p.Y542Y	PI4KA_ENST00000255882.6_Silent_p.Y600Y			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	542					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTGAGAGATGTAGAGCCGGT	0.577																																					p.Y600Y	GBM(136;1332 1831 3115 23601 50806)	.											.	.	.	0			c.C1800T						.						62	50	54					22																	21153979		2162	4220	6382	SO:0001819	synonymous_variant	5297	exon15			AGAGATGTAGAGC	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.1626C>T	22.37:g.21153979G>A		29	0		45	4	NM_058004	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																				.		0.577	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21153979	G	A	21153979	2	1	1	1	0	0	0	0	0	0	0	1	11912	1372	48	3		3	PI4KA	22	21153979	Silent	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	1288027	21153979	30150587	158	158											
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	38323501	38323501	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr22:38323501G>C	ENST00000215957.6	+	9	1675	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	517	Pro-rich.				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)					CCTGTCGTCTGAGAGCGCCAG	0.677																																					p.E517Q		.											.	.	.	0			c.G1549C						.						62	57	59					22																	38323501		2203	4300	6503	SO:0001583	missense	85377	exon9			TCGTCTGAGAGCG	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.1549G>C	22.37:g.38323501G>C	ENSP00000215957:p.Glu517Gln	41	0		54	5	NM_033386	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.34|14.34	2.506172|2.506172	0.44558|0.44558	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000215957|ENST00000454685	T|.	0.55413|.	0.52|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.097270|.	0.44688|.	D|.	0.000423|.	T|.	0.74283|.	0.3696|.	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.60789|.	0.879|.	T|.	0.74028|.	-0.3796|.	10|.	0.39692|.	T|.	0.17|.	.|.	18.3451|18.3451	0.90319|0.90319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	517|.	Q8N3F8|.	MILK1_HUMAN|.	Q|S	517|94	ENSP00000215957:E517Q|.	ENSP00000215957:E517Q|.	E|X	+|+	1|2	0|2	MICALL1|MICALL1	36653447|36653447	0.998000|0.998000	0.40836|0.40836	0.336000|0.336000	0.25522|0.25522	0.036000|0.036000	0.12997|0.12997	4.377000|4.377000	0.59562|0.59562	2.321000|2.321000	0.78463|0.78463	0.555000|0.555000	0.69702|0.69702	GAG|TGA	.		0.677	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		C	38323501	G	C	38323501	3	2	1	1	0	0	0	0	1	0	0	0	9611	1291	45	5	1583	5	MICALL1	22	38323501	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	17169522	38323501	12981065	159	159											
PKDREJ	10343	bcgsc.ca	37	22	46653730	46653730	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chr22:46653730G>T	ENST00000253255.5	-	1	5489	c.5490C>A	c.(5488-5490)gaC>gaA	p.D1830E		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1830					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)		TGTCTTCTGGGTCAATGCCAT	0.388																																					p.D1830E													.	PKDREJ	195	0			c.C5490A						.						170	176	174					22																	46653730		2203	4300	6503	SO:0001583	missense	10343	exon1			TTCTGGGTCAATG	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.5490C>A	22.37:g.46653730G>T	ENSP00000253255:p.Asp1830Glu	50	0		48	4	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877361	0.72294	.	.	ENSG00000130943	ENST00000253255	T	0.69685	-0.42	5.19	1.89	0.25635	Polycystin cation channel, PKD1/PKD2 (1);	0.093377	0.45867	D	0.000323	T	0.71247	0.3317	M	0.72118	2.19	0.09310	N	1	D	0.57257	0.979	P	0.56278	0.795	T	0.61153	-0.7120	10	0.28530	T	0.3	-23.9253	8.5621	0.33516	0.2491:0.0:0.7509:0.0	.	1830	Q9NTG1	PKDRE_HUMAN	E	1830	ENSP00000253255:D1830E	ENSP00000253255:D1830E	D	-	3	2	PKDREJ	45032394	0.943000	0.32029	0.314000	0.25224	0.643000	0.38383	2.157000	0.42320	0.281000	0.22233	0.455000	0.32223	GAC	.		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		T	46653730	G	T	46653730	3	4	1	1	0	0	0	0	1	0	0	0	12009	1252	44	3	1275	3	PKDREJ	22	46653730	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	8330229	46653730	4650836	160	160											
BCOR	54880	broad.mit.edu	37	X	39933623	39933623	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chrX:39933623G>T	ENST00000378444.4	-	4	1204	c.976C>A	c.(976-978)Ccg>Acg	p.P326T	BCOR_ENST00000397354.3_Missense_Mutation_p.P326T|BCOR_ENST00000342274.4_Missense_Mutation_p.P326T|BCOR_ENST00000378455.4_Missense_Mutation_p.P326T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	326					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						GTGTCCCCCGGCAGGCCACTG	0.637			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																														p.P326T				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	351	0			c.C976A						.						28	25	26					X																	39933623		2202	4299	6501	SO:0001583	missense	54880	exon4			CCCCCGGCAGGCC	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.976C>A	X.37:g.39933623G>T	ENSP00000367705:p.Pro326Thr	21	0		32	4	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268785	0.40095	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.56	5.56	0.83823	.	.	.	.	.	T	0.28699	0.0711	N	0.24115	0.695	0.33254	D	0.558915	D;D;D;D	0.71674	0.971;0.998;0.991;0.995	P;D;P;D	0.65987	0.779;0.94;0.873;0.94	T	0.38499	-0.9658	9	0.87932	D	0	-13.3399	9.2956	0.37813	0.0788:0.1421:0.779:0.0	.	326;326;326;326	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	326	ENSP00000367716:P326T;ENSP00000380512:P326T;ENSP00000367705:P326T;ENSP00000345923:P326T;ENSP00000384485:P326T	ENSP00000345923:P326T	P	-	1	0	BCOR	39818567	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	1.178000	0.31981	2.331000	0.79229	0.600000	0.82982	CCG	.		0.637	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39933623	G	T	39933623	3	4	1	1	0	0	0	0	1	0	0	0	1387	1203	42	3	4339	3	BCOR	23	39933623	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09		39933623	115336937	161	161											
ELK1	2002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	47496463	47496463	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chrX:47496463C>G	ENST00000247161.3	-	5	1236	c.1137G>C	c.(1135-1137)tgG>tgC	p.W379C	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.W379C|ELK1_ENST00000592066.1_Missense_Mutation_p.W325C	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	379	Sufficient for interaction with MAD2L2.				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						TCAGGGTGCTCCAGAAGTGAA	0.597																																					p.W379C		.											.	.	.	0			c.G1137C						.						49	46	47					X																	47496463		2202	4299	6501	SO:0001583	missense	2002	exon6			GGTGCTCCAGAAG	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.1137G>C	X.37:g.47496463C>G	ENSP00000247161:p.Trp379Cys	30	0		55	6	NM_001114123	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144777	0.77888	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.49432	0.78;0.78	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.69169	0.3081	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74216	-0.3737	10	0.87932	D	0	.	14.7251	0.69339	0.0:1.0:0.0:0.0	.	379	P19419	ELK1_HUMAN	C	379;72;379	ENSP00000247161:W379C;ENSP00000366182:W379C	ENSP00000247161:W379C	W	-	3	0	ELK1	47381407	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.716000	0.84723	2.058000	0.61347	0.506000	0.49869	TGG	.		0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		G	47496463	C	G	47496463	3	3	1	1	0	0	0	0	1	0	0	0	5075	856	30	5	157	5	ELK1	23	47496463	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	7562840	47496463	107774097	162	162											
SRPX2	27286	bcgsc.ca	37	X	99925824	99925824	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chrX:99925824G>T	ENST00000373004.3	+	11	1666	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	413					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGCCTCACTCGCTCCTACTTC	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R413L													.	SRPX2	41	0			c.G1238T						.						158	123	135					X																	99925824		2203	4300	6503	SO:0001583	missense	27286	exon11			TCACTCGCTCCTA	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1238G>T	X.37:g.99925824G>T	ENSP00000362095:p.Arg413Leu	32	0	1347	50	4	NM_014467	B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379930	0.61845	.	.	ENSG00000102359	ENST00000373004	T	0.42513	0.97	5.1	3.32	0.38043	.	0.102319	0.64402	D	0.000008	T	0.44871	0.1314	L	0.33485	1.01	0.46356	D	0.999	P	0.43909	0.821	P	0.52710	0.707	T	0.16247	-1.0409	9	.	.	.	-2.7336	14.5827	0.68302	0.0:0.2856:0.7144:0.0	.	413	O60687	SRPX2_HUMAN	L	413	ENSP00000362095:R413L	.	R	+	2	0	SRPX2	99812480	0.981000	0.34729	0.992000	0.48379	0.997000	0.91878	1.600000	0.36762	0.534000	0.28695	0.529000	0.55759	CGC	.		0.517	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		T	99925824	G	T	99925824	3	4	1	1	0	0	0	0	1	0	0	0	15212	1087	38	2	1276	2	SRPX2	23	99925824	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	52429361	99925824	55344736	163	163											
MAGEC3	139081	ucsc.edu;bcgsc.ca	37	X	140984709	140984709	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chrX:140984709C>A	ENST00000298296.1	+	7	1165	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K	MAGEC3_ENST00000443323.2_Missense_Mutation_p.Q11K|MAGEC3_ENST00000544766.1_Missense_Mutation_p.Q91K|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.Q91K|MAGEC3_ENST00000536088.1_Missense_Mutation_p.Q91K	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	389	Pro-rich.									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)					ACCTCTTCCCCAGAGTCCTCC	0.587																																					p.Q389K													.	MAGEC3	228	0			c.C1165A						.						47	39	42					X																	140984709		2175	4257	6432	SO:0001583	missense	139081	exon7			CTTCCCCAGAGTC	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.1165C>A	X.37:g.140984709C>A	ENSP00000298296:p.Gln389Lys	26	0		34	4	NM_138702	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	5.540	0.284552	0.10513	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.03468	4.15;3.92;3.97;3.92;3.92	0.225	0.225	0.15325	.	.	.	.	.	T	0.02380	0.0073	N	0.24115	0.695	0.09310	N	1	P;P	0.38110	0.618;0.458	B;B	0.39152	0.153;0.292	T	0.33752	-0.9856	8	0.06236	T	0.91	.	.	.	.	.	389;91	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	K	389;91;11;91;91	ENSP00000298296:Q389K;ENSP00000441107:Q91K;ENSP00000438254:Q11K;ENSP00000440444:Q91K;ENSP00000386566:Q91K	ENSP00000298296:Q389K	Q	+	1	0	MAGEC3	140812375	0.005000	0.15991	0.036000	0.18154	0.158000	0.22134	0.582000	0.23834	0.280000	0.22209	0.284000	0.19432	CAG	.		0.587	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		A	140984709	C	A	140984709	3	1	1	1	0	0	0	0	1	0	0	0	9220	595	21	3	1420	3	MAGEC3	23	140984709	Missense_Mutation	SNP	C	TCGA-3X-AAV9-01A-72D-A417-09	41058885	140984709	14285851	164	164											
MAGEC1	9947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	140994602	140994602	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chrX:140994602A>T	ENST00000285879.4	+	4	1698	c.1412A>T	c.(1411-1413)gAg>gTg	p.E471V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	471										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)					AGTACTTTTGAGGGTTTTCCC	0.483										HNSCC(15;0.026)																											p.E471V		.											.	.	.	0			c.A1412T						.						109	120	116					X																	140994602		2203	4297	6500	SO:0001583	missense	9947	exon4			CTTTTGAGGGTTT	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.1412A>T	X.37:g.140994602A>T	ENSP00000285879:p.Glu471Val	76	0		95	21	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	6.493	0.459111	0.12342	.	.	ENSG00000155495	ENST00000285879	T	0.03065	4.06	.	.	.	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	0.24060	N	0.996011	P	0.42993	0.797	B	0.31686	0.134	T	0.47799	-0.9089	8	0.87932	D	0	.	4.5587	0.12149	0.9995:0.0:5.0E-4:0.0	.	471	O60732	MAGC1_HUMAN	V	471	ENSP00000285879:E471V	ENSP00000285879:E471V	E	+	2	0	MAGEC1	140822268	0.001000	0.12720	0.023000	0.16930	0.023000	0.10783	-0.120000	0.10660	0.126000	0.18424	0.125000	0.15800	GAG	.		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994602	A	T	140994602	3	4	1	1	0	0	0	0	1	0	0	0	9218	304	11	5	1418	5	MAGEC1	23	140994602	Missense_Mutation	SNP	A	TCGA-3X-AAV9-01A-72D-A417-09	9893	140994602	14275958	165	165											
BGN	633	hgsc.bcm.edu;bcgsc.ca	37	X	152771327	152771327	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAV9-01A-72D-A417-09	TCGA-3X-AAV9-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd621b60-9752-48be-967c-43ee49990150	0c81b1b7-c24e-4b40-a844-bf702966e4a1	g.chrX:152771327G>T	ENST00000331595.4	+	4	544	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	120					blood vessel remodeling (GO:0001974)|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)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGCCCTCGTCCTGGTGAA	0.617																																					p.V120F		.											.	.	.	0			c.G358T						.						40	32	35					X																	152771327		2203	4297	6500	SO:0001583	missense	633	exon4			GCCCTCGTCCTGG	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.358G>T	X.37:g.152771327G>T	ENSP00000327336:p.Val120Phe	35	0		53	4	NM_001711	D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436776	0.25900	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;T;T	0.57907	0.37;0.39;0.37	4.87	4.87	0.63330	.	0.134859	0.49916	D	0.000122	T	0.34366	0.0895	N	0.05441	-0.05	0.40391	D	0.979541	B	0.14012	0.009	B	0.12156	0.007	T	0.14337	-1.0476	10	0.33141	T	0.24	-43.3383	16.1375	0.81497	0.0:0.0:1.0:0.0	.	120	P21810	PGS1_HUMAN	F	120;137;59;59	ENSP00000327336:V120F;ENSP00000402525:V137F;ENSP00000359223:V59F	ENSP00000327336:V120F	V	+	1	0	BGN	152424521	0.198000	0.23374	0.924000	0.36721	0.853000	0.48598	1.376000	0.34306	2.148000	0.66965	0.476000	0.43555	GTC	.		0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		T	152771327	G	T	152771327	3	4	1	1	0	0	0	0	1	0	0	0	1420	1145	40	2	368	2	BGN	23	152771327	Missense_Mutation	SNP	G	TCGA-3X-AAV9-01A-72D-A417-09	11776725	152771327	2499233	166	166											
EPHA2	1969	hgsc.bcm.edu;broad.mit.edu	37	1	16459707	16459707	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:16459707T>A	ENST00000358432.5	-	11	2175	c.2021A>T	c.(2020-2022)aAc>aTc	p.N674I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	674	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)	GCGGATGATGTTGTGGTGGCT	0.617																																					p.N674I		.											.	.	.	0			c.A2021T						.						79	76	77					1																	16459707		2203	4300	6503	SO:0001583	missense	1969	exon11			ATGATGTTGTGGT	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.2021A>T	1.37:g.16459707T>A	ENSP00000351209:p.Asn674Ile	13	0		10	5	NM_004431	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	t	24.7	4.560718	0.86335	.	.	ENSG00000142627	ENST00000358432	T	0.71222	-0.55	5.5	5.5	0.81552	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	0.000016	D	0.90494	0.7022	H	0.98802	4.335	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.94044	0.7312	10	0.87932	D	0	.	14.4836	0.67599	0.0:0.0:0.0:1.0	.	674	P29317	EPHA2_HUMAN	I	674	ENSP00000351209:N674I	ENSP00000351209:N674I	N	-	2	0	EPHA2	16332294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.280000	0.72626	2.119000	0.64992	0.515000	0.50301	AAC	.		0.617	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		A	16459707	T	A	16459707	3	1	2	1	0	0	0	0	1	0	0	0	5183	1725	60	5	937	5	EPHA2	1	16459707	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09		16459707	232790914	1	167											
CSMD2	114784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	33985237	33985237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:33985237C>A	ENST00000373381.4	-	70	10953	c.10777G>T	c.(10777-10779)Gag>Tag	p.E3593*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3449						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)				TTGGTGTTCTCGTGGCCAGCA	0.542																																					p.E3449X		.											CSMD2_ENST00000373381,axilla,malignant_melanoma,0,2	CSMD2_ENST00000373381	0	0			c.G10345T						.						299	264	276					1																	33985237		2203	4300	6503	SO:0001587	stop_gained	114784	exon69			TGTTCTCGTGGCC	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	ENST00000373381.4:c.10777G>T	1.37:g.33985237C>A	ENSP00000362479:p.Glu3593*	32	0		13	6	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	52	19.391776	0.99919	.	.	ENSG00000121904	ENST00000373381	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5014	0.87733	0.0:1.0:0.0:0.0	.	.	.	.	X	3593	.	ENSP00000241312:E3449X	E	-	1	0	CSMD2	33757824	1.000000	0.71417	0.999000	0.59377	0.667000	0.39255	7.389000	0.79806	2.421000	0.82119	0.561000	0.74099	GAG	.		0.542	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	33985237	C	A	33985237	4	1	2	1	0	0	0	0	0	1	0	0	3954	893	31	2	122	2	CSMD2	1	33985237	Nonsense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	17525530	33985237	215265384	2	168											
KDM4A	9682	hgsc.bcm.edu	37	1	44133482	44133482	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:44133482G>T	ENST00000372396.3	+	9	1089	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	319					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V319M(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTCCATGGATGTGTTTGTGAG	0.502																																					p.V319L		.											KDM4A,NS,carcinoma,0,1	KDM4A	0	1	Substitution - Missense(1)	endometrium(1)	c.G955T						.						113	104	107					1																	44133482		2203	4300	6503	SO:0001583	missense	9682	exon9			ATGGATGTGTTTG	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.955G>T	1.37:g.44133482G>T	ENSP00000361473:p.Val319Leu	53	0		44	2	NM_014663	Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897282	0.91962	.	.	ENSG00000066135	ENST00000372396	T	0.71103	-0.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	M	0.79123	2.44	0.58432	D	0.99999	P;D	0.60160	0.655;0.987	B;D	0.66716	0.139;0.946	T	0.77659	-0.2505	10	0.18276	T	0.48	-15.9843	20.8794	0.99867	0.0:0.0:1.0:0.0	.	319;319	B4DT38;O75164	.;KDM4A_HUMAN	L	319	ENSP00000361473:V319L	ENSP00000361473:V319L	V	+	1	0	KDM4A	43906069	1.000000	0.71417	0.998000	0.56505	0.752000	0.42762	6.631000	0.74277	2.941000	0.99782	0.655000	0.94253	GTG	.		0.502	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		T	44133482	G	T	44133482	3	4	2	1	0	0	0	0	1	0	0	0	8155	1377	48	3	985	3	KDM4A	1	44133482	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	10148245	44133482	205117139	3	169											
MOV10	4343	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	113242318	113242320	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:113242318_113242320delAGA	ENST00000413052.2	+	18	2985_2987	c.2595_2597delAGA	c.(2593-2598)gtagaa>gta	p.E867del	MOV10_ENST00000369644.1_In_Frame_Del_p.E811del|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000357443.2_In_Frame_Del_p.E867del|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_In_Frame_Del_p.E867del	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	867					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGGTTCAGTAGAAGAATTCCAA	0.562																																					p.865_866del		.											.	.	.	0			c.2594_2596del						.																																			SO:0001651	inframe_deletion	4343	exon18			TTCAGTAGAAGAA	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2595_2597delAGA	1.37:g.113242321_113242323delAGA	ENSP00000399797:p.Glu867del	43	0		35	10	NM_020963	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	In_Frame_Del	DEL	ENST00000413052.2	37	CCDS853.1																																																																																			.		0.562	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		-	113242320	AGA	-	113242318	7	5	2	1	0	1	0	1	0	0	0	0	9756	407	15	0	2661	0	MOV10	1	113242318	In_Frame_Del	DEL	AGA	TCGA-3X-AAVA-01A-11D-A417-09	69108836	113242318	136008303	4	170											
MAN1A2	10905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	117957335	117957335	+	Splice_Site	SNP	G	G	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:117957335G>C	ENST00000356554.3	+	4	1391	c.656G>C	c.(655-657)gGa>gCa	p.G219A	MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	219					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CCAAATATAGGAAGTTCACAA	0.363																																					p.G219A	Ovarian(33;199 881 8228 13687 31538)	.											.	.	.	0			c.G656C						.						82	81	81					1																	117957335		2203	4300	6503	SO:0001630	splice_region_variant	10905	exon4			ATATAGGAAGTTC	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.656-1G>C	1.37:g.117957335G>C		44	0		43	21	NM_006699	Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724306	0.89298	.	.	ENSG00000198162	ENST00000356554	D	0.84589	-1.87	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	M	0.83384	2.64	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.91554	0.5259	9	.	.	.	.	16.9927	0.86358	0.0:0.0:1.0:0.0	.	219	O60476	MA1A2_HUMAN	A	219	ENSP00000348959:G219A	.	G	+	2	0	MAN1A2	117758858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.312000	0.96287	2.672000	0.90937	0.650000	0.86243	GGA	.		0.363	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	Missense_Mutation	C	117957335	G	C	117957335	5	2	2	1	0	0	0	0	0	0	1	0	9249	1188	41	5	670	5	MAN1A2	1	117957335	Splice_Site	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	4715017	117957335	131293286	5	171											
WDR3	10885	hgsc.bcm.edu	37	1	118495209	118495209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:118495209C>A	ENST00000349139.5	+	19	2122	c.2075C>A	c.(2074-2076)tCa>tAa	p.S692*		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	692						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S692L(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATGTTGTATCATCGTCCCAT	0.423																																					p.S692X		.											WDR3,NS,carcinoma,0,1	WDR3	0	1	Substitution - Missense(1)	breast(1)	c.C2075A						.						100	100	100					1																	118495209		2203	4300	6503	SO:0001587	stop_gained	10885	exon19			TTGTATCATCGTC	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2075C>A	1.37:g.118495209C>A	ENSP00000308179:p.Ser692*	61	0		44	2	NM_006784		Nonsense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	C	39	7.857253	0.98528	.	.	ENSG00000065183	ENST00000349139	.	.	.	6.06	6.06	0.98353	.	0.110725	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0592	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	692	.	ENSP00000308179:S692X	S	+	2	0	WDR3	118296732	1.000000	0.71417	0.840000	0.33206	0.914000	0.54420	7.678000	0.84035	2.880000	0.98712	0.650000	0.86243	TCA	.		0.423	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		A	118495209	C	A	118495209	4	1	2	1	0	0	0	0	0	1	0	0	17334	838	29	3	2145	3	WDR3	1	118495209	Nonsense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	537874	118495209	130755412	6	172											
RNPEP	6051	bcgsc.ca	37	1	201965299	201965299	+	Silent	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:201965299C>T	ENST00000295640.4	+	4	805	c.762C>T	c.(760-762)tgC>tgT	p.C254C	RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.5_ENST00000608886.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	254					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)		CTGAGCCCTGCCTGATTGATG	0.498																																					p.C254C	GBM(19;39 479 7473 13131 19462)												.	RNPEP	39	0			c.C762T						.						163	151	155					1																	201965299		2203	4300	6503	SO:0001819	synonymous_variant	6051	exon4			GCCCTGCCTGATT	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.762C>T	1.37:g.201965299C>T		107	0		110	5	NM_020216	Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	CCDS1418.1																																																																																			.		0.498	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		T	201965299	C	T	201965299	2	4	2	1	0	0	0	0	0	0	0	1	13554	747	26	3		3	RNPEP	1	201965299	Silent	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	83470090	201965299	47285322	7	173											
DSTYK	25778	broad.mit.edu	37	1	205132932	205132932	+	Silent	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:205132932G>A	ENST00000367162.3	-	4	1506	c.1476C>T	c.(1474-1476)gtC>gtT	p.V492V	DSTYK_ENST00000367161.3_Silent_p.V492V|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	492					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	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)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CCAGGGTTCCGACGAAGCTTT	0.473																																					p.V492V													.	DSTYK	87	0			c.C1476T						.						127	109	115					1																	205132932		2203	4300	6503	SO:0001819	synonymous_variant	25778	exon4			GGTTCCGACGAAG	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1476C>T	1.37:g.205132932G>A		36	0		38	3	NM_199462	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	CCDS1451.1																																																																																			.		0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		A	205132932	G	A	205132932	2	1	2	1	0	0	0	0	0	0	0	1	4799	1045	37	1		1	DSTYK	1	205132932	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	3167633	205132932	44117689	8	174											
HIST3H2BB	128312	hgsc.bcm.edu	37	1	228645919	228645919	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:228645919G>A	ENST00000369160.2	+	1	112	c.89G>A	c.(88-90)cGc>cAc	p.R30H	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	30					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				GGCAAGAAGCGCAAGCGCGGC	0.577																																					p.R30H		.											.	.	.	0			c.G89A						.						98	98	98					1																	228645919		2203	4300	6503	SO:0001583	missense	128312	exon1			AGAAGCGCAAGCG	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"Histones / Replication-dependent"	20514	protein-coding gene	gene with protein product		615046	"histone 3, H2bb"			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.89G>A	1.37:g.228645919G>A	ENSP00000375736:p.Arg30His	77	0		90	3	NM_175055	A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	16.22	3.061409	0.55432	.	.	ENSG00000196890	ENST00000369160	T	0.22945	1.93	3.94	3.94	0.45596	Histone-fold (2);	0.000000	0.48286	D	0.000193	T	0.26085	0.0636	L	0.53729	1.69	0.46499	D	0.999075	B	0.06786	0.001	B	0.04013	0.001	T	0.07233	-1.0783	10	0.45353	T	0.12	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	30	Q8N257	H2B3B_HUMAN	H	30	ENSP00000375736:R30H	ENSP00000375736:R30H	R	+	2	0	HIST3H2BB	226712542	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.338000	0.52128	2.491000	0.84063	0.586000	0.80456	CGC	.		0.577	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		A	228645919	G	A	228645919	3	1	2	1	0	0	0	0	1	0	0	0	7210	1087	38	1	91	1	HIST3H2BB	1	228645919	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	23512987	228645919	20604702	9	175											
TRIM67	440730	broad.mit.edu	37	1	231299471	231299473	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr1:231299471_231299473delGCC	ENST00000366653.5	+	1	756_758	c.756_758delGCC	c.(754-759)cagccg>cag	p.P260del	TRIM67_ENST00000449018.3_Intron|TRIM67_ENST00000366652.2_In_Frame_Del_p.P260del|TRIM67_ENST00000444294.3_In_Frame_Del_p.P260del			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	260					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)				GCCTGGTGCAgccgccgccgccg	0.759																																					p.252_253del													.	TRIM67	160	0			c.756_758del						.																																			SO:0001651	inframe_deletion	440730	exon1			GGTGCAGCCGCCG	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.756_758delGCC	1.37:g.231299480_231299482delGCC	ENSP00000355613:p.Pro260del	4	0		6	2	NM_001004342	Q5TER7|Q5TER8|Q7Z4K7	In_Frame_Del	DEL	ENST00000366653.5	37	CCDS44333.1																																																																																			.		0.759	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		-	231299473	GCC	-	231299471	7	5	2	1	0	1	0	1	0	0	0	0	16588	962	34	0	758	0	TRIM67	1	231299471	In_Frame_Del	DEL	GCC	TCGA-3X-AAVA-01A-11D-A417-09	2653552	231299471	17951150	10	176											
CAD	790	hgsc.bcm.edu;bcgsc.ca	37	2	27447924	27447924	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:27447924G>A	ENST00000403525.1	+	11	1577	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	CAD_ENST00000264705.4_Missense_Mutation_p.G478D			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)					ACTTTTGGGGGCCAGACTGCT	0.582																																					p.G478D		.											.	.	.	0			c.G1433A						.						90	83	85					2																	27447924		2203	4300	6503	SO:0001583	missense	790	exon11			TTGGGGGCCAGAC	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.1433G>A	2.37:g.27447924G>A	ENSP00000384510:p.Gly478Asp	59	0		54	4	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	27.5	4.834421	0.91036	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99755	-6.64;-6.64	5.54	4.65	0.58169	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	0.99906	0.9955	H	0.99922	4.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.95883	0.8900	10	0.87932	D	0	1.3919	14.9752	0.71267	0.0:0.1437:0.8563:0.0	.	478;478	F8VPD4;P27708	.;PYR1_HUMAN	D	478	ENSP00000264705:G478D;ENSP00000384510:G478D	ENSP00000264705:G478D	G	+	2	0	CAD	27301428	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.229000	0.95273	1.292000	0.44672	0.462000	0.41574	GGC	.		0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27447924	G	A	27447924	3	1	2	1	0	0	0	0	1	0	0	0	2572	1203	42	3	1475	3	CAD	2	27447924	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		27447924	215751449	11	177											
CAD	790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	27457075	27457075	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:27457075A>G	ENST00000403525.1	+	21	3554	c.3410A>G	c.(3409-3411)aAt>aGt	p.N1137S	CAD_ENST00000264705.4_Missense_Mutation_p.N1200S			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)					GGACCCTTCAATCTGCAGCTC	0.537																																					p.N1200S		.											.	.	.	0			c.A3599G						.						67	61	63					2																	27457075		2203	4300	6503	SO:0001583	missense	790	exon22			CCTTCAATCTGCA	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.3410A>G	2.37:g.27457075A>G	ENSP00000384510:p.Asn1137Ser	23	0		16	7	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.535397	0.85812	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98474	-4.95;-4.95	5.85	5.85	0.93711	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99462	0.9809	H	0.99325	4.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98029	1.0375	10	0.87932	D	0	0.4033	15.0724	0.72049	1.0:0.0:0.0:0.0	.	1137;1200	F8VPD4;P27708	.;PYR1_HUMAN	S	1200;1137	ENSP00000264705:N1200S;ENSP00000384510:N1137S	ENSP00000264705:N1200S	N	+	2	0	CAD	27310579	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.494000	0.90477	2.237000	0.73441	0.459000	0.35465	AAT	.		0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			G	27457075	A	G	27457075	3	3	2	1	0	0	0	0	1	0	0	0	2572	101	4	4	3685	4	CAD	2	27457075	Missense_Mutation	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09	9151	27457075	215742298	12	178											
VPS54	51542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	64189236	64189236	+	Silent	SNP	T	T	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:64189236T>C	ENST00000272322.4	-	7	1120	c.966A>G	c.(964-966)acA>acG	p.T322T	VPS54_ENST00000354504.3_Silent_p.T205T|VPS54_ENST00000409558.4_Silent_p.T310T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	322					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						GAACCTCTTGTGTTGTTGCTA	0.378																																					p.T322T		.											.	.	.	0			c.A966G						.						126	125	125					2																	64189236		2203	4300	6503	SO:0001819	synonymous_variant	51542	exon7			CTCTTGTGTTGTT	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.966A>G	2.37:g.64189236T>C		93	0		66	27	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	CCDS33208.1																																																																																			.		0.378	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		C	64189236	T	C	64189236	2	2	2	1	0	0	0	0	0	0	0	1	17265	1683	59	4		4	VPS54	2	64189236	Silent	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	36732161	64189236	179010137	13	179											
MTHFD2	10797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	74435800	74435800	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:74435800A>T	ENST00000394053.2	+	4	594	c.514A>T	c.(514-516)Atg>Ttg	p.M172L	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.M131L|MTHFD2_ENST00000264090.4_Missense_Mutation_p.M70L|MTHFD2_ENST00000394050.3_Missense_Mutation_p.M8L	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	172					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TCAGTATTCCATGTTACCGGC	0.393																																					p.M172L		.											.	.	.	0			c.A514T						.						262	239	246					2																	74435800		1920	4132	6052	SO:0001583	missense	10797	exon4			TATTCCATGTTAC	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.514A>T	2.37:g.74435800A>T	ENSP00000377617:p.Met172Leu	76	0		53	19	NM_006636	Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979475	0.53827	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.3	5.3	0.74995	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);	0.034867	0.85682	D	0.000000	T	0.27063	0.0663	N	0.02286	-0.61	0.52099	D	0.999948	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.12915	-1.0529	10	0.21014	T	0.42	.	13.2393	0.59987	1.0:0.0:0.0:0.0	.	131;172	B8ZZU9;P13995	.;MTDC_HUMAN	L	172;70;8;131	ENSP00000377617:M172L;ENSP00000264090:M70L;ENSP00000377614:M8L;ENSP00000386542:M131L	ENSP00000264090:M70L	M	+	1	0	MTHFD2	74289308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.824000	0.92023	2.015000	0.59207	0.529000	0.55759	ATG	.		0.393	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			T	74435800	A	T	74435800	3	4	2	1	0	0	0	0	1	0	0	0	9967	217	8	5	528	5	MTHFD2	2	74435800	Missense_Mutation	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09	10246564	74435800	168763573	14	180											
NCAPH	23397	bcgsc.ca	37	2	97020038	97020038	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:97020038G>T	ENST00000240423.4	+	9	1163	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	NCAPH_ENST00000455200.1_Missense_Mutation_p.D363Y|NCAPH_ENST00000427946.1_Missense_Mutation_p.D238Y	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	374					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGATGACTTTGATGCCAACGA	0.517																																					p.D374Y													.	NCAPH	67	0			c.G1120T						.						158	153	155					2																	97020038		2203	4300	6503	SO:0001583	missense	23397	exon9			GACTTTGATGCCA	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1120G>T	2.37:g.97020038G>T	ENSP00000240423:p.Asp374Tyr	60	0		48	4	NM_015341	B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803556	0.31869	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.38	3.53	0.40419	.	0.090132	0.85682	N	0.000000	T	0.45458	0.1343	M	0.80746	2.51	0.48901	D	0.999727	B;B;P;P	0.39157	0.414;0.414;0.662;0.662	B;B;B;B	0.39094	0.202;0.202;0.272;0.29	T	0.38564	-0.9655	10	0.23891	T	0.37	-4.8165	12.9187	0.58220	0.0:0.0:0.7448:0.2552	.	350;363;363;374	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Y	374;238;363;363	ENSP00000240423:D374Y;ENSP00000400774:D238Y;ENSP00000405237:D363Y;ENSP00000407308:D363Y	ENSP00000240423:D374Y	D	+	1	0	NCAPH	96383765	1.000000	0.71417	0.981000	0.43875	0.458000	0.32498	2.866000	0.48420	0.616000	0.30141	0.561000	0.74099	GAT	.		0.517	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		T	97020038	G	T	97020038	3	4	2	1	0	0	0	0	1	0	0	0	10248	1290	45	3	1154	3	NCAPH	2	97020038	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	22584238	97020038	146179335	15	181											
SLC25A12	8604	broad.mit.edu	37	2	172641829	172641829	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:172641829A>T	ENST00000422440.2	-	18	2029	c.1992T>A	c.(1990-1992)agT>agA	p.S664R	SLC25A12_ENST00000392592.4_Missense_Mutation_p.S557R	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	664					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|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)	integral component of membrane (GO:0016021)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CCACAGCAACACTAGGAGACT	0.502																																					p.S664R													.	SLC25A12	59	0			c.T1992A						.						104	97	99					2																	172641829		2203	4300	6503	SO:0001583	missense	8604	exon18			AGCAACACTAGGA	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1992T>A	2.37:g.172641829A>T	ENSP00000388658:p.Ser664Arg	67	0		52	3	NM_003705	B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955971	0.34471	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78707	-1.2;-1.16	6.05	2.42	0.29668	.	0.731722	0.13283	N	0.399623	T	0.66839	0.2830	L	0.38175	1.15	0.09310	N	1	B;B	0.17667	0.007;0.023	B;B	0.11329	0.006;0.006	T	0.55958	-0.8058	10	0.42905	T	0.14	0.5277	8.974	0.35924	0.6548:0.0:0.3452:0.0	.	557;664	B3KR64;O75746	.;CMC1_HUMAN	R	664;557	ENSP00000388658:S664R;ENSP00000376371:S557R	ENSP00000376371:S557R	S	-	3	2	SLC25A12	172350075	0.000000	0.05858	0.496000	0.27539	0.961000	0.63080	0.202000	0.17295	0.550000	0.28991	0.528000	0.53228	AGT	.		0.502	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		T	172641829	A	T	172641829	3	4	2	1	0	0	0	0	1	0	0	0	14519	156	6	5	48	5	SLC25A12	2	172641829	Missense_Mutation	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09	75621791	172641829	70557544	16	182											
WIPF1	7456	ucsc.edu	37	2	175431867	175431867	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:175431867G>A	ENST00000392547.2	-	7	1486	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000409891.1_Missense_Mutation_p.P463S|WIPF1_ENST00000392546.2_Missense_Mutation_p.P463S|WIPF1_ENST00000359761.3_Missense_Mutation_p.P463S|WIPF1_ENST00000272746.5_Missense_Mutation_p.P463S|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	463					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCTGGAGGTGGCAAATCGGAA	0.433																																					p.P463S													.	WIPF1	88	0			c.C1387T						.						143	142	142					2																	175431867		2203	4300	6503	SO:0001583	missense	7456	exon7			GAGGTGGCAAATC	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1387C>T	2.37:g.175431867G>A	ENSP00000376330:p.Pro463Ser	83	1		42	4	NM_003387	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010459	0.93346	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891	D;D;D;D;D	0.90955	-1.69;-1.76;-1.69;-1.69;-2.76	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.95974	0.8689	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.95503	0.8579	10	0.66056	D	0.02	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	463;463;463	O43516-3;O43516-2;O43516	.;.;WIPF1_HUMAN	S	463;319;463;463;463;463	ENSP00000376330:P463S;ENSP00000272746:P463S;ENSP00000352802:P463S;ENSP00000376329:P463S;ENSP00000386431:P463S	ENSP00000272746:P463S	P	-	1	0	WIPF1	175140113	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.875000	0.87205	2.854000	0.98071	0.655000	0.94253	CCA	.		0.433	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		A	175431867	G	A	175431867	3	1	2	1	0	0	0	0	1	0	0	0	17416	1203	42	3	132	3	WIPF1	2	175431867	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	2790038	175431867	67767506	17	183											
PRKRA	8575	hgsc.bcm.edu	37	2	179306336	179306336	+	Splice_Site	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr2:179306336C>T	ENST00000325748.4	-	6	810		c.e6+1		PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site|AC009948.5_ENST00000453026.2_RNA|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)	.											PRKRA,NS,carcinoma,0,1	PRKRA	0	1	Unknown(1)	lung(1)	c.534+1G>A						.						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		35	0		41	3	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	.	.		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	2	1	0	0	0	0	0	0	1	0	12566	579	20	3	343	3	PRKRA	2	179306336	Splice_Site	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	3874469	179306336	63893037	18	184											
PXK	54899	bcgsc.ca	37	3	58395275	58395275	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr3:58395275G>T	ENST00000356151.2	+	15	1434	c.1325G>T	c.(1324-1326)aGa>aTa	p.R442I	PXK_ENST00000479241.1_Missense_Mutation_p.R425I|PXK_ENST00000536660.1_Missense_Mutation_p.R305I|PXK_ENST00000484288.1_Missense_Mutation_p.R442I|PXK_ENST00000383715.4_Missense_Mutation_p.R425I|PXK_ENST00000463280.1_Missense_Mutation_p.R409I|PXK_ENST00000383716.3_Missense_Mutation_p.R409I|PXK_ENST00000302779.5_Missense_Mutation_p.R425I	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CAGCATCGAAGACTGACAAGA	0.423																																					p.R442I													.	PXK	89	0			c.G1325T						.						66	66	66					3																	58395275		2203	4300	6503	SO:0001583	missense	54899	exon15			ATCGAAGACTGAC	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1325G>T	3.37:g.58395275G>T	ENSP00000348472:p.Arg442Ile	34	0		23	3	NM_017771		Missense_Mutation	SNP	ENST00000356151.2	37	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.799475|4.799475	0.90538|0.90538	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134;ENST00000495557|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.51071	.|2.95;2.95;2.95;0.88;0.82;0.85;0.72;2.95	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69931|0.69931	0.3166|0.3166	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|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	.|0.81914	.|0.993;0.994;0.989;0.995;0.988;0.988	T|T	0.69727|0.69727	-0.5067|-0.5067	5|10	.|0.54805	.|T	.|0.06	-18.4633|-18.4633	18.4824|18.4824	0.90817|0.90817	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|409;409;409;442;425;442	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	Y|I	197;14|442;425;409;409;425;442;425;305;305	.|ENSP00000348472:R442I;ENSP00000305045:R425I;ENSP00000373222:R409I;ENSP00000417903:R409I;ENSP00000373221:R425I;ENSP00000417915:R442I;ENSP00000419049:R425I;ENSP00000438356:R305I	.|ENSP00000305045:R425I	D|R	+|+	1|2	0|0	PXK|PXK	58370315|58370315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.296000|7.296000	0.78790|0.78790	2.871000|2.871000	0.98454|0.98454	0.637000|0.637000	0.83480|0.83480	GAC|AGA	.		0.423	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		T	58395275	G	T	58395275	3	4	2	1	0	0	0	0	1	0	0	0	12894	942	33	3	1383	3	PXK	3	58395275	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		58395275	139627155	19	185											
GPR160	26996	hgsc.bcm.edu	37	3	169802126	169802126	+	Silent	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr3:169802126G>T	ENST00000355897.5	+	4	974	c.366G>T	c.(364-366)ctG>ctT	p.L122L		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATTATTGCCTGAATTTCTCTA	0.294																																					p.L122L		.											GPR160,NS,carcinoma,+1,1	GPR160	+1	0			c.G366T						.						45	49	47					3																	169802126		2203	4299	6502	SO:0001819	synonymous_variant	26996	exon4			TTGCCTGAATTTC	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.366G>T	3.37:g.169802126G>T		31	0		31	2	NM_014373	D3DNQ2	Silent	SNP	ENST00000355897.5	37	CCDS3211.1																																																																																			.		0.294	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		T	169802126	G	T	169802126	2	4	2	1	0	0	0	0	0	0	0	1	6690	1277	45	3		3	GPR160	3	169802126	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	111406851	169802126	28220304	20	186											
SPON2	10417	bcgsc.ca	37	4	1161434	1161434	+	Silent	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:1161434C>T	ENST00000290902.5	-	6	1154	c.822G>A	c.(820-822)acG>acA	p.T274T	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Silent_p.T274T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	274					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)		AGTCCAGCGGCGTTTCTGGAA	0.632											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T274T													.	SPON2	22	0			c.G822A						.						50	54	53					4																	1161434		2203	4300	6503	SO:0001819	synonymous_variant	10417	exon8			CAGCGGCGTTTCT	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.822G>A	4.37:g.1161434C>T		85	0	593	83	5	NM_001199021	D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	CCDS3347.1																																																																																			.		0.632	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			T	1161434	C	T	1161434	2	4	2	1	0	0	0	0	0	0	0	1	15130	755	27	1		1	SPON2	4	1161434	Silent	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09		1161434	189992842	21	187											
ANAPC4	29945	bcgsc.ca	37	4	25419867	25419867	+	Missense_Mutation	SNP	G	G	A	rs561331536	byFrequency	TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:25419867G>A	ENST00000315368.3	+	29	2432	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	ANAPC4_ENST00000510092.1_Missense_Mutation_p.A765T	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	764					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)				AGAGGAGGAGGCCAGTAATAA	0.428													G|||	3	0.000599042	0.0023	0	5008	,	,		16465	0		0	False		,,,				2504	0				p.A764T													.	ANAPC4	61	0			c.G2290A						.						153	166	162					4																	25419867		2203	4300	6503	SO:0001583	missense	29945	exon29			GAGGAGGCCAGTA	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.2290G>A	4.37:g.25419867G>A	ENSP00000318775:p.Ala764Thr	77	0		51	4	NM_013367	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582726	0.46006	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.32753	1.44;1.45	5.74	5.74	0.90152	.	0.520282	0.22795	N	0.055546	T	0.20820	0.0501	N	0.14661	0.345	0.49915	D	0.999835	B	0.33694	0.421	B	0.29785	0.107	T	0.05007	-1.0912	10	0.29301	T	0.29	-15.4791	18.471	0.90774	0.0:0.0:1.0:0.0	.	764	Q9UJX5	APC4_HUMAN	T	764;765	ENSP00000318775:A764T;ENSP00000426654:A765T	ENSP00000318775:A764T	A	+	1	0	ANAPC4	25028965	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	4.740000	0.62087	2.861000	0.98227	0.643000	0.83706	GCC	.		0.428	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		A	25419867	G	A	25419867	3	1	2	1	0	0	0	0	1	0	0	0	604	1203	42	3	2400	3	ANAPC4	4	25419867	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	24258433	25419867	165734409	22	188											
N4BP2	55728	bcgsc.ca	37	4	40154490	40154490	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:40154490C>T	ENST00000261435.6	+	17	5650	c.5234C>T	c.(5233-5235)gCt>gTt	p.A1745V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1745	Smr. {ECO:0000255|PROSITE- ProRule:PRU00321}.				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						ATCAAACCAGCTGTCATTAAG	0.428																																					p.A1745V													.	N4BP2	166	0			c.C5234T						.						164	144	151					4																	40154490		2203	4300	6503	SO:0001583	missense	55728	exon17			AACCAGCTGTCAT	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.5234C>T	4.37:g.40154490C>T	ENSP00000261435:p.Ala1745Val	76	0		69	4	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064742	0.76187	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.29917	1.55	5.83	5.83	0.93111	Smr protein/MutS2 C-terminal (2);	0.125580	0.52532	D	0.000072	T	0.60663	0.2286	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62435	-0.6855	10	0.87932	D	0	-12.7053	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1728;1745	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	V	1745;1665	ENSP00000261435:A1745V	ENSP00000261435:A1745V	A	+	2	0	N4BP2	39830885	1.000000	0.71417	0.974000	0.42286	0.116000	0.19942	7.174000	0.77620	2.770000	0.95276	0.655000	0.94253	GCT	.		0.428	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		T	40154490	C	T	40154490	3	4	2	1	0	0	0	0	1	0	0	0	10148	797	28	3	5292	3	N4BP2	4	40154490	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	14734623	40154490	150999786	23	189											
MUC7	4589	hgsc.bcm.edu;broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:71347033C>A	ENST00000304887.5	+	3	762	c.572C>A	c.(571-573)gCc>gAc	p.A191D	MUC7_ENST00000456088.1_Missense_Mutation_p.A191D|MUC7_ENST00000413702.1_Missense_Mutation_p.A191D	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	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.A191V(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)			ACCACAGCTGCCCCACCCACA	0.587																																					p.A191D		.											MUC7,NS,carcinoma,0,2	MUC7	0	1	Substitution - Missense(1)	urinary_tract(1)	c.C572A						.						359	290	314					4																	71347033		2203	4300	6503	SO:0001583	missense	4589	exon4			CAGCTGCCCCACC	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.572C>A	4.37:g.71347033C>A	ENSP00000302021:p.Ala191Asp	63	0		50	4	NM_001145007	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678450	0.14841	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.60171	0.21;0.21;0.21	1.73	1.73	0.24493	.	.	.	.	.	T	0.52613	0.1745	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	P	0.59288	0.855	T	0.36089	-0.9762	8	.	.	.	.	4.1514	0.10240	0.0:0.792:0.0:0.208	.	191	Q8TAX7	MUC7_HUMAN	D	191	ENSP00000407422:A191D;ENSP00000400585:A191D;ENSP00000302021:A191D	.	A	+	2	0	MUC7	71381622	0.000000	0.05858	0.058000	0.19502	0.018000	0.09664	0.323000	0.19593	1.273000	0.44346	0.655000	0.94253	GCC	.		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		A	71347033	C	A	71347033	3	1	2	1	0	0	0	0	1	0	0	0	10019	739	26	3	578	3	MUC7	4	71347033	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	31192543	71347033	119807243	24	190											
ABCG2	9429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	89018752	89018752	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:89018752C>A	ENST00000237612.3	-	13	2045	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	ABCG2_ENST00000515655.1_Missense_Mutation_p.K500N	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	500	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CTGCCTTTGGCTTCAATCCTT	0.433																																					p.K500N		.											.	.	.	0			c.G1500T						.						86	80	82					4																	89018752		2203	4300	6503	SO:0001583	missense	9429	exon13			CTTTGGCTTCAAT	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1500G>T	4.37:g.89018752C>A	ENSP00000237612:p.Lys500Asn	28	0		27	13	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828552	0.32329	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.71341	-0.56;-0.56	5.65	-5.16	0.02857	ABC-2 type transporter (1);	0.131624	0.64402	D	0.000002	T	0.60547	0.2277	L	0.35288	1.05	0.23204	N	0.99813	P;P;B	0.38535	0.494;0.635;0.299	B;P;B	0.44811	0.221;0.461;0.259	T	0.60110	-0.7327	10	0.38643	T	0.18	-18.0878	14.8258	0.70110	0.0:0.5266:0.0:0.4734	.	500;500;500	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	N	500	ENSP00000426917:K500N;ENSP00000237612:K500N	ENSP00000237612:K500N	K	-	3	2	ABCG2	89237776	0.091000	0.21658	0.006000	0.13384	0.084000	0.17831	-0.394000	0.07296	-0.781000	0.04548	-0.252000	0.11476	AAG	.		0.433	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		A	89018752	C	A	89018752	3	1	2	1	0	0	0	0	1	0	0	0	69	796	28	3	483	3	ABCG2	4	89018752	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	17671719	89018752	102135524	25	191											
LEF1	51176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	109086281	109086281	+	Silent	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:109086281G>A	ENST00000265165.1	-	2	906	c.252C>T	c.(250-252)caC>caT	p.H84H	LEF1_ENST00000438313.2_Silent_p.H84H|LEF1_ENST00000512172.1_Silent_p.H16H|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000379951.2_Silent_p.H84H|LEF1_ENST00000510624.1_Silent_p.H16H	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	84	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|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 proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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 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 regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGGCCTTGTCGTGGTAGGGCT	0.443																																					p.H84H		.											.	.	.	0			c.C252T						.						256	213	227					4																	109086281		2203	4300	6503	SO:0001819	synonymous_variant	51176	exon2			CTTGTCGTGGTAG		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.252C>T	4.37:g.109086281G>A		112	0		84	30	NM_001130714	B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	ENST00000265165.1	37	CCDS3679.1																																																																																			.		0.443	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			A	109086281	G	A	109086281	2	1	2	1	0	0	0	0	0	0	0	1	8742	1136	40	1		1	LEF1	4	109086281	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	20067529	109086281	82067995	26	192											
CCDC109B	55013	hgsc.bcm.edu	37	4	110605624	110605624	+	Missense_Mutation	SNP	C	C	T	rs149233225	byFrequency	TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:110605624C>T	ENST00000394650.4	+	6	771	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	213					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)		GAAGCTCATTCGGAAGCCAAA	0.493													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		17150	0		0	False		,,,				2504	0				p.S213L		.											CCDC109B_ENST00000394650,NS,carcinoma,0,2	CCDC109B_ENST00000394650	0	0			c.C638T						.	C	LEU/SER	10,4396	17.9+/-39.9	0,10,2193	94	89	91		638	5.6	0.2	4	dbSNP_134	91	0,8600		0,0,4300	yes	missense	CCDC109B	NM_017918.4	145	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	possibly-damaging	213/337	110605624	10,12996	2203	4300	6503	SO:0001583	missense	55013	exon6			CTCATTCGGAAGC	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.638C>T	4.37:g.110605624C>T	ENSP00000378145:p.Ser213Leu	28	0		28	2	NM_017918	A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250752	0.39797	0.00227	0.0	ENSG00000005059	ENST00000394650	T	0.28069	1.63	5.57	5.57	0.84162	Coiled-coil domain containing protein 109, C-terminal (1);	0.205895	0.42682	D	0.000678	T	0.48696	0.1514	M	0.80183	2.485	0.09310	N	1	D	0.57257	0.979	P	0.52514	0.701	T	0.52859	-0.8519	10	0.87932	D	0	-8.3825	13.8044	0.63220	0.0:0.9268:0.0:0.0732	.	213	Q9NWR8	C109B_HUMAN	L	213	ENSP00000378145:S213L	ENSP00000378145:S213L	S	+	2	0	CCDC109B	110825073	0.054000	0.20591	0.176000	0.23000	0.071000	0.16799	1.653000	0.37323	2.602000	0.87976	0.591000	0.81541	TCG	0.000		0.493	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		T	110605624	C	T	110605624	3	4	2	1	0	0	0	0	1	0	0	0	2752	893	31	1	660	1	CCDC109B	4	110605624	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	1519343	110605624	80548652	27	193											
SLC7A11	23657	ucsc.edu;bcgsc.ca	37	4	139153507	139153507	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr4:139153507G>T	ENST00000280612.5	-	3	713	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	145					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GCGTCCAAATGCCAGGGATAT	0.373																																					p.A145E													.	SLC7A11	40	0			c.C434A						.						61	60	60					4																	139153507		2203	4300	6503	SO:0001583	missense	23657	exon3			CCAAATGCCAGGG	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.434C>A	4.37:g.139153507G>T	ENSP00000280612:p.Ala145Glu	54	0		42	4	NM_014331	A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390688	0.95988	.	.	ENSG00000151012	ENST00000280612	D	0.91792	-2.91	5.64	5.64	0.86602	Amino acid permease domain (1);	0.047167	0.85682	D	0.000000	D	0.95439	0.8519	M	0.82323	2.585	0.80722	D	1	P	0.36909	0.573	P	0.49012	0.598	D	0.95356	0.8451	10	0.87932	D	0	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	145	Q9UPY5	XCT_HUMAN	E	145	ENSP00000280612:A145E	ENSP00000280612:A145E	A	-	2	0	SLC7A11	139372957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.566000	0.98157	2.671000	0.90904	0.655000	0.94253	GCA	.		0.373	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			T	139153507	G	T	139153507	3	4	2	1	0	0	0	0	1	0	0	0	14739	1319	46	3	1111	3	SLC7A11	4	139153507	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	28547883	139153507	52000769	28	194											
HCN1	348980	hgsc.bcm.edu	37	5	45262723	45262723	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr5:45262723G>T	ENST00000303230.4	-	8	2030	c.1973C>A	c.(1972-1974)tCc>tAc	p.S658Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	658					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						CCTCATGCGGGAGGTCGGGGT	0.552																																					p.S658Y		.											HCN1,NS,malignant_melanoma,0,1	HCN1	0	0			c.C1973A						.						180	173	175					5																	45262723		2203	4300	6503	SO:0001583	missense	348980	exon8			ATGCGGGAGGTCG	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.1973C>A	5.37:g.45262723G>T	ENSP00000307342:p.Ser658Tyr	61	0		53	3	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.766871	0.00651	.	.	ENSG00000164588	ENST00000303230	T	0.76448	-1.02	5.52	4.64	0.57946	.	0.123610	0.36815	N	0.002394	T	0.63177	0.2489	L	0.36672	1.1	0.34233	D	0.676799	B	0.26876	0.162	B	0.27887	0.084	T	0.60520	-0.7247	10	0.02654	T	1	.	9.8932	0.41302	0.0721:0.1401:0.7878:0.0	.	658	O60741	HCN1_HUMAN	Y	658	ENSP00000307342:S658Y	ENSP00000307342:S658Y	S	-	2	0	HCN1	45298480	0.988000	0.35896	0.337000	0.25536	0.043000	0.13939	5.529000	0.67135	1.318000	0.45170	0.655000	0.94253	TCC	.		0.552	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262723	G	T	45262723	3	4	2	1	0	0	0	0	1	0	0	0	7023	1174	41	3	703	3	HCN1	5	45262723	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		45262723	135652537	29	195											
GPR98	84059	hgsc.bcm.edu	37	5	89923034	89923034	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr5:89923034G>A	ENST00000405460.2	+	7	775	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	227	Calx-beta 2. {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)		ACAGGTACCAGAAAATGATGA	0.313																																					p.E227K		.											GPR98,colon,carcinoma,0,1	GPR98	0	0			c.G679A						.						18	18	18					5																	89923034		1802	4067	5869	SO:0001583	missense	84059	exon7			GTACCAGAAAATG	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.679G>A	5.37:g.89923034G>A	ENSP00000384582:p.Glu227Lys	30	0		40	2	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363015	0.95877	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.61274	0.12	5.91	5.91	0.95273	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.81597	0.4856	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83848	0.0261	10	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	227	Q8WXG9	GPR98_HUMAN	K	227	ENSP00000384582:E227K	ENSP00000296619:E227K	E	+	1	0	GPR98	89958790	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.512000	0.98008	2.804000	0.96469	0.650000	0.86243	GAA	.		0.313	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89923034	G	A	89923034	3	1	2	1	0	0	0	0	1	0	0	0	6748	943	33	3	705	3	GPR98	5	89923034	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	44660311	89923034	90992226	30	196											
AQPEP	206338	hgsc.bcm.edu	37	5	115351066	115351066	+	Silent	SNP	T	T	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	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		.											FLJ90650,caecum,carcinoma,0,1	FLJ90650	0	0			c.T2568A						.						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		31	0		35	2	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																			.		0.343	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115351066	T	A	115351066	2	1	2	1	0	0	0	0	0	0	0	1	834	1771	62	5		5	AQPEP	5	115351066	Silent	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	25428032	115351066	65564194	31	197											
PCDHA6	56142	hgsc.bcm.edu	37	5	140209783	140209783	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr5:140209783G>A	ENST00000529310.1	+	1	2221	c.2107G>A	c.(2107-2109)Gcc>Acc	p.A703T	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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	703					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)			CCTGATCATCGCCATCTGCGC	0.687																																					p.A703T		.											PCDHA6_ENST00000529310,NS,carcinoma,0,2	PCDHA6_ENST00000529310	0	0			c.G2107A						.						58	60	59					5																	140209783		2203	4296	6499	SO:0001583	missense	56142	exon1			ATCATCGCCATCT	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.2107G>A	5.37:g.140209783G>A	ENSP00000433378:p.Ala703Thr	52	0		45	2	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186855	0.38609	.	.	ENSG00000081842	ENST00000529310	T	0.20463	2.07	4.12	3.23	0.37069	.	0.000000	0.36482	U	0.002577	T	0.52008	0.1708	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.936	T	0.55879	-0.8071	10	0.87932	D	0	.	4.9613	0.14068	0.0829:0.1465:0.6195:0.1511	.	703;703	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	703	ENSP00000433378:A703T	ENSP00000433378:A703T	A	+	1	0	PCDHA6	140189967	0.572000	0.26668	0.917000	0.36280	0.106000	0.19336	1.585000	0.36600	1.059000	0.40554	0.306000	0.20318	GCC	.		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		A	140209783	G	A	140209783	3	1	2	1	0	0	0	0	1	0	0	0	11567	1087	38	1	2109	1	PCDHA6	5	140209783	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	24858717	140209783	40705477	32	198											
DPYSL3	1809	hgsc.bcm.edu	37	5	146795287	146795287	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr5:146795287G>T	ENST00000398514.3	-	4	834	c.463C>A	c.(463-465)Ctc>Atc	p.L155I	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.L269I	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	155					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGATGAGGTTCTGCACT	0.527																																					p.L269I		.											DPYSL3,NS,carcinoma,0,1	DPYSL3	0	0			c.C805A						.						273	282	279					5																	146795287		2118	4238	6356	SO:0001583	missense	1809	exon4			TGATGAGGTTCTG	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.463C>A	5.37:g.146795287G>T	ENSP00000381526:p.Leu155Ile	57	0		40	2	NM_001197294	B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540736	0.85917	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.90261	-2.64;-2.64	6.08	6.08	0.98989	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.064020	0.64402	D	0.000004	D	0.94742	0.8303	M	0.67569	2.06	0.80722	D	1	P;B	0.44690	0.841;0.212	D;P	0.69142	0.962;0.607	D	0.94081	0.7344	10	0.56958	D	0.05	-20.096	16.2709	0.82618	0.0:0.0:0.8597:0.1403	.	269;155	B3SXQ8;Q14195	.;DPYL3_HUMAN	I	155;269	ENSP00000381526:L155I;ENSP00000343690:L269I	ENSP00000343690:L269I	L	-	1	0	DPYSL3	146775480	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	4.054000	0.57434	2.894000	0.99253	0.591000	0.81541	CTC	.		0.527	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		T	146795287	G	T	146795287	3	4	2	1	0	0	0	0	1	0	0	0	4762	1000	35	3	1293	3	DPYSL3	5	146795287	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	6585504	146795287	34119973	33	199											
PDGFRB	5159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	149500517	149500518	+	Missense_Mutation	DNP	GA	GA	TT	rs371399585		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	GA	GA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr5:149500517_149500518GA>TT	ENST00000261799.4	-	18	2988_2989	c.2519_2520TC>AA	c.(2518-2520)gTC>gAA	p.V840E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	840	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)			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)	CACAGATCTTGACCAGCTTGCC	0.584			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																p.V840E		.		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	.	.	.	0			c.T2519A						.																																			SO:0001583	missense	5159	exon18			ATCTTGACCAGCT	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.2519_2520delinsTT	5.37:g.149500517_149500518delinsTT	ENSP00000261799:p.Val840Glu	28	0		27	9	NM_002609	B5A957|Q8N5L4	Missense_Mutation	DNP	ENST00000261799.4	37	CCDS4303.1																																																																																			.		0.584	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		TT	149500518	GA	TT	149500517	3	4	2	1	0	0	0	0	1	0	0	0	11701	1277	45	3	824	3	PDGFRB	5	149500517	Missense_Mutation	DNP	GA	TCGA-3X-AAVA-01A-11D-A417-09	2705230	149500517	31414743	34	200											
HIST1H2AI	8329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	27776314	27776314	+	Silent	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr6:27776314G>A	ENST00000358739.3	+	1	416	c.327G>A	c.(325-327)ctG>ctA	p.L109L	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	109						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						GTGGCGTCCTGCCCAACATCC	0.577																																					p.L109L		.											.	.	.	0			c.G327A						.						74	72	73					6																	27776314		2203	4300	6503	SO:0001819	synonymous_variant	8329	exon1			CGTCCTGCCCAAC	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.327G>A	6.37:g.27776314G>A		65	0		63	18	NM_003509	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000358739.3	37	CCDS4626.1																																																																																			.		0.577	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040152.1	NM_003509		A	27776314	G	A	27776314	2	1	2	1	0	0	0	0	0	0	0	1	7162	1306	46	3		3	HIST1H2AI	6	27776314	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		27776314	143338753	35	201											
NFE2L3	9603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	26224462	26224462	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr7:26224462T>C	ENST00000056233.3	+	4	1403	c.1144T>C	c.(1144-1146)Tat>Cat	p.Y382H		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	382					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						AGACCTACTGTATGACCTTGA	0.383																																					p.Y382H		.											.	.	.	0			c.T1144C						.						84	87	86					7																	26224462		2203	4300	6503	SO:0001583	missense	9603	exon4			CTACTGTATGACC	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.1144T>C	7.37:g.26224462T>C	ENSP00000056233:p.Tyr382His	73	0		60	18	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	T	0.064	-1.217565	0.01542	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.30182	1.54	5.05	1.29	0.21616	.	0.933158	0.09237	N	0.829811	T	0.16685	0.0401	N	0.16066	0.365	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.31943	-0.9925	10	0.16420	T	0.52	-2.6223	9.002	0.36088	0.0:0.298:0.0:0.702	.	382	Q9Y4A8	NF2L3_HUMAN	H	382;88	ENSP00000056233:Y382H	ENSP00000056233:Y382H	Y	+	1	0	NFE2L3	26190987	0.000000	0.05858	0.279000	0.24732	0.145000	0.21501	-0.272000	0.08560	0.323000	0.23307	0.443000	0.29094	TAT	.		0.383	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			C	26224462	T	C	26224462	3	2	2	1	0	0	0	0	1	0	0	0	10408	1638	57	4	1158	4	NFE2L3	7	26224462	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09		26224462	132914201	36	202											
TAS2R41	259287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	143175419	143175419	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr7:143175419A>G	ENST00000408916.1	+	1	454	c.454A>G	c.(454-456)Aac>Gac	p.N152D	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	152					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)					TTTTTGGGTGAACTACCCTGT	0.443																																					p.N152D		.											.	.	.	0			c.A454G						.						47	47	47					7																	143175419		1855	4101	5956	SO:0001583	missense	259287	exon1			TGGGTGAACTACC	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.454A>G	7.37:g.143175419A>G	ENSP00000386201:p.Asn152Asp	30	0		29	4	NM_176883	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790459	0.31685	.	.	ENSG00000221855	ENST00000408916	T	0.37235	1.21	5.7	4.54	0.55810	.	0.372050	0.22816	U	0.055290	T	0.42131	0.1189	M	0.66439	2.03	0.09310	N	1	P	0.41102	0.738	P	0.44921	0.464	T	0.36529	-0.9744	10	0.62326	D	0.03	.	9.8374	0.40977	0.9187:0.0:0.0813:0.0	.	152	P59536	T2R41_HUMAN	D	152	ENSP00000386201:N152D	ENSP00000386201:N152D	N	+	1	0	TAS2R41	142885541	0.057000	0.20700	0.033000	0.17914	0.008000	0.06430	1.759000	0.38420	0.985000	0.38656	0.533000	0.62120	AAC	.		0.443	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			G	143175419	A	G	143175419	3	3	2	1	0	0	0	0	1	0	0	0	15626	246	9	4	456	4	TAS2R41	7	143175419	Missense_Mutation	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09	116950957	143175419	15963244	37	203											
CSMD1	64478	hgsc.bcm.edu	37	8	3063118	3063118	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr8:3063118C>T	ENST00000520002.1	-	32	5450	c.4895G>A	c.(4894-4896)gGa>gAa	p.G1632E	CSMD1_ENST00000602557.1_Missense_Mutation_p.G1632E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1631E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1631E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1632E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1632E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1631E|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1632	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G1631V(1)|p.G1360V(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)		CCCTTCTGATCCCGTGTACTG	0.453																																					p.G1631E		.											CSMD1_ENST00000537824,NS,carcinoma,0,2	CSMD1_ENST00000537824	0	2	Substitution - Missense(2)	lung(2)	c.G4892A						.						52	51	51					8																	3063118		1868	4093	5961	SO:0001583	missense	64478	exon31			TCTGATCCCGTGT			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.4895G>A	8.37:g.3063118C>T	ENSP00000430733:p.Gly1632Glu	38	0		46	2	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	19.64	3.865603	0.71949	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.28	4.4	0.53042	CUB (5);	0.000000	0.64402	D	0.000001	T	0.36663	0.0975	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;0.966;1.0	D;P;D	0.97110	1.0;0.901;1.0	T	0.07501	-1.0769	10	0.23891	T	0.37	.	14.111	0.65121	0.0:0.9272:0.0:0.0728	.	1632;1632;1632	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	E	1632;1632;1494;1631;1631;1631	ENSP00000383047:G1632E;ENSP00000430733:G1632E;ENSP00000441462:G1631E;ENSP00000446243:G1631E;ENSP00000441675:G1631E	ENSP00000320445:G1494E	G	-	2	0	CSMD1	3050525	1.000000	0.71417	0.536000	0.28039	0.648000	0.38561	7.593000	0.82686	1.357000	0.45904	0.655000	0.94253	GGA	.		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3063118	C	T	3063118	3	4	2	1	0	0	0	0	1	0	0	0	3953	855	30	3	5962	3	CSMD1	8	3063118	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09		3063118	143300904	38	204											
AP3M2	10947	hgsc.bcm.edu	37	8	42015516	42015516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr8:42015516G>T	ENST00000518421.1	+	4	622	c.331G>T	c.(331-333)Gag>Tag	p.E111*	AP3M2_ENST00000174653.3_Nonsense_Mutation_p.E111*|AP3M2_ENST00000517922.1_Nonsense_Mutation_p.E111*|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Nonsense_Mutation_p.E111*	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	111					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.E111Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGTGGTTTATGAGGTATTGGA	0.403																																					p.E111X		.											AP3M2,NS,carcinoma,0,1	AP3M2	0	1	Substitution - Missense(1)	lung(1)	c.G331T						.						239	217	224					8																	42015516		2203	4300	6503	SO:0001587	stop_gained	10947	exon4			GTTTATGAGGTAT	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.331G>T	8.37:g.42015516G>T	ENSP00000428787:p.Glu111*	46	0		40	2	NM_001134296	B2RCR0|D3DSY2|Q7Z472	Nonsense_Mutation	SNP	ENST00000518421.1	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	39	7.487403	0.98316	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922;ENST00000517499	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.1626	18.2325	0.89938	0.0:0.0:1.0:0.0	.	.	.	.	X	111;111;111;111;111;20	.	ENSP00000174653:E111X	E	+	1	0	AP3M2	42134673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.363000	0.80096	0.650000	0.86243	GAG	.		0.403	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			T	42015516	G	T	42015516	4	4	2	1	0	0	0	0	0	1	0	0	748	1291	45	3	337	3	AP3M2	8	42015516	Nonsense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	38952398	42015516	104348506	39	205											
EEF1D	1936	broad.mit.edu;bcgsc.ca	37	8	144672086	144672086	+	Intron	SNP	C	C	T	rs370379043		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr8:144672086C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000423316.2_Missense_Mutation_p.D56N|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.D106N|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.D56N|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000528610.1_Intron			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)			TCCTCAGGGTCGTCCTGGCCG	0.687																																					p.D56N													.	EEF1D	48	0			c.G166A						.	C	ASN/ASP,,,,,,ASN/ASP	0,4392		0,0,2196	14	16	15		166,,,,,,166	3	0.9	8		15	1,8585		0,1,4292	no	missense,intron,intron,intron,intron,intron,missense	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	23,,,,,,23	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	benign,,,,,,benign	56/648,,,,,,56/648	144672086	1,12977	2196	4293	6489	SO:0001627	intron_variant	1936	exon3			CAGGGTCGTCCTG	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.4-3067G>A	8.37:g.144672086C>T		24	0		8	3	NM_001130053	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	7.740	0.700993	0.15172	0.0	1.16E-4	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369;ENST00000526710;ENST00000531281;ENST00000532596;ENST00000524883;ENST00000531670;ENST00000528519;ENST00000529832;ENST00000530306;ENST00000530545;ENST00000525261;ENST00000534804;ENST00000524900	.	.	.	3.83	2.96	0.34315	.	0.303719	0.25427	N	0.030747	T	0.45518	0.1346	L	0.44542	1.39	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.42632	-0.9440	9	0.48119	T	0.1	.	7.6664	0.28434	0.0:0.8835:0.0:0.1165	.	56;106;56	D3DWK1;E9PRY8;P29692-2	.;.;.	N	106;56;56;8;56;56;56;56;56;56;56;56;56;56;56;56;56	.	ENSP00000338323:D56N	D	-	1	0	EEF1D	144743229	0.006000	0.16342	0.928000	0.36995	0.009000	0.06853	2.090000	0.41682	1.197000	0.43143	-0.439000	0.05793	GAC	.		0.687	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		T	144672086	C	T	144672086	1	4	2	0	1	0	0	0	0	0	0	0	4940	884	31	1		1	EEF1D	8	144672086	Intron	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	102656570	144672086	1691936	40	206											
RUSC2	9853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	35546734	35546734	+	Silent	SNP	T	T	A	rs200234823		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr9:35546734T>A	ENST00000455600.1	+	2	785	c.216T>A	c.(214-216)tcT>tcA	p.S72S	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	72						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTGCACTCTACTCCAGGAG	0.577																																					p.S72S		.											.	.	.	0			c.T216A						.						69	64	66					9																	35546734		2203	4300	6503	SO:0001819	synonymous_variant	9853	exon2			GCACTCTACTCCA	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.216T>A	9.37:g.35546734T>A		12	0		16	8	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	CCDS35008.1																																																																																			.		0.577	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		A	35546734	T	A	35546734	2	1	2	1	0	0	0	0	0	0	0	1	13796	1509	53	5		5	RUSC2	9	35546734	Silent	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09		35546734	105666697	41	207											
VPS13A	23230	hgsc.bcm.edu	37	9	79936212	79936212	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr9:79936212G>T	ENST00000360280.3	+	43	5803	c.5543G>T	c.(5542-5544)tGt>tTt	p.C1848F	VPS13A_ENST00000376636.3_Missense_Mutation_p.C1809F|VPS13A_ENST00000376634.4_Missense_Mutation_p.C1848F|VPS13A_ENST00000357409.5_Missense_Mutation_p.C1848F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1848					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						TTATCCAAATGTGGTCTTGTA	0.299																																					p.C1848F		.											VPS13A_ENST00000376634,NS,lymphoid_neoplasm,0,3	VPS13A_ENST00000376634	0	0			c.G5543T						.						37	37	37					9																	79936212		2201	4279	6480	SO:0001583	missense	23230	exon43			CCAAATGTGGTCT	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.5543G>T	9.37:g.79936212G>T	ENSP00000353422:p.Cys1848Phe	61	0		59	2	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.724085|3.724085	0.68959|0.68959	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.053207|.	0.85682|.	D|.	0.000000|.	T|T	0.75657|0.75657	0.3879|0.3879	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.69078|.	0.997;0.958;0.991;0.981;0.981|.	D;P;P;P;P|.	0.65874|.	0.939;0.837;0.781;0.855;0.855|.	T|T	0.74899|0.74899	-0.3507|-0.3507	10|5	0.62326|.	D|.	0.03|.	.|.	16.3282|16.3282	0.82996|0.82996	0.0:0.0:0.8674:0.1326|0.0:0.0:0.8674:0.1326	.|.	100;1809;1848;1848;1848|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	F|L	1848;1809;1848;1848|101	ENSP00000365821:C1848F;ENSP00000365823:C1809F;ENSP00000353422:C1848F;ENSP00000349985:C1848F|.	ENSP00000349985:C1848F|.	C|V	+|+	2|1	0|0	VPS13A|VPS13A	79126032|79126032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.055000|6.055000	0.71103|0.71103	2.743000|2.743000	0.94032|0.94032	0.585000|0.585000	0.79938|0.79938	TGT|GTG	.		0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79936212	G	T	79936212	3	4	2	1	0	0	0	0	1	0	0	0	17238	1377	48	3	5713	3	VPS13A	9	79936212	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	44389478	79936212	61277219	42	208											
IPPK	64768	broad.mit.edu	37	9	95396672	95396672	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr9:95396672G>A	ENST00000287996.3	-	11	1442	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	IPPK_ENST00000375522.1_Missense_Mutation_p.T61M	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	389					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						GCCCACCTTCGTTAGCGCGAA	0.418											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T389M													.	IPPK	34	0			c.C1166T						.						88	73	78					9																	95396672		2203	4300	6503	SO:0001583	missense	64768	exon11			ACCTTCGTTAGCG	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.1166C>T	9.37:g.95396672G>A	ENSP00000287996:p.Thr389Met	56	0	1312	40	3	NM_022755	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548714	0.27652	.	.	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.30981	1.51;1.51	5.71	2.75	0.32379	.	0.218601	0.47455	D	0.000234	T	0.33294	0.0858	L	0.44542	1.39	0.22541	N	0.999008	B;D	0.58620	0.235;0.983	B;P	0.50270	0.086;0.636	T	0.12142	-1.0559	10	0.41790	T	0.15	-11.1042	11.8609	0.52465	0.0:0.1195:0.6321:0.2484	.	389;88	Q9H8X2;B3KVX7	IPPK_HUMAN;.	M	389;61	ENSP00000287996:T389M;ENSP00000364672:T61M	ENSP00000287996:T389M	T	-	2	0	IPPK	94436493	0.996000	0.38824	0.007000	0.13788	0.003000	0.03518	2.504000	0.45416	0.383000	0.24910	-0.314000	0.08810	ACG	.		0.418	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		A	95396672	G	A	95396672	3	1	2	1	0	0	0	0	1	0	0	0	7828	1145	40	1	321	1	IPPK	9	95396672	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	15460460	95396672	45816759	43	209											
AKR1C4	1109	hgsc.bcm.edu	37	10	5242162	5242162	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr10:5242162G>T	ENST00000380448.1	+	4	356	c.103G>T	c.(103-105)Gta>Tta	p.V35L	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.V35L			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	35					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						GAACAGAGCTGTAGAGGTCAC	0.448																																					p.V35L		.											.	.	.	0			c.G103T						.						108	95	100					10																	5242162		2203	4300	6503	SO:0001583	missense	1109	exon2			AGAGCTGTAGAGG	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.103G>T	10.37:g.5242162G>T	ENSP00000369814:p.Val35Leu	72	0		65	4	NM_001818	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903904	0.02453	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.22336	1.96;1.96	3.46	-3.84	0.04256	NADP-dependent oxidoreductase domain (3);	4.406720	0.01030	N	0.004132	T	0.09905	0.0243	N	0.17838	0.53	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18085	-1.0348	10	0.06494	T	0.89	.	1.9067	0.03278	0.1476:0.2902:0.3982:0.164	.	35	P17516	AK1C4_HUMAN	L	35	ENSP00000369814:V35L;ENSP00000263126:V35L	ENSP00000263126:V35L	V	+	1	0	AKR1C4	5232162	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.311000	0.02723	-1.236000	0.02542	0.591000	0.81541	GTA	.		0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		T	5242162	G	T	5242162	3	4	2	1	0	0	0	0	1	0	0	0	472	1377	48	3	109	3	AKR1C4	10	5242162	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		5242162	130292585	44	210											
VPS26A	9559	hgsc.bcm.edu	37	10	70892799	70892799	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr10:70892799G>T	ENST00000373382.1	+	3	802	c.149G>T	c.(148-150)gGa>gTa	p.G50V	VPS26A_ENST00000546041.1_Nonsense_Mutation_p.E8*|VPS26A_ENST00000489794.1_Missense_Mutation_p.G25V|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.G50V|VPS26A_ENST00000395098.1_Missense_Mutation_p.G50V			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	50					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TCCGTTTCAGGAAAGGTAAAT	0.328																																					p.G50V	Colon(90;545 1358 4729 6702 16773)	.											.	.	.	0			c.G149T						.						82	78	80					10																	70892799		2203	4300	6503	SO:0001583	missense	9559	exon2			TTTCAGGAAAGGT	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.149G>T	10.37:g.70892799G>T	ENSP00000362480:p.Gly50Val	53	0		55	4	NM_004896	A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	CCDS7286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.040396|8.040396	0.98624|0.98624	.|.	.|.	ENSG00000122958|ENSG00000122958	ENST00000546041|ENST00000373382;ENST00000263559;ENST00000395098	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87525	.|0.6199	H|H	0.94620|0.94620	3.56|3.56	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|P;D	.|0.85130	.|0.893;0.997	.|D	.|0.90136	.|0.4210	.|9	0.30078|0.62326	T|D	0.28|0.03	-4.3708|-4.3708	19.5924|19.5924	0.95520|0.95520	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|50;50	.|A8MZ56;O75436	.|.;VP26A_HUMAN	X|V	8|50	.|.	ENSP00000446081:E8X|ENSP00000263559:G50V	E|G	+|+	1|2	0|0	VPS26A|VPS26A	70562805|70562805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	9.763000|9.763000	0.98947|0.98947	2.689000|2.689000	0.91719|0.91719	0.655000|0.655000	0.94253|0.94253	GAA|GGA	.		0.328	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		T	70892799	G	T	70892799	3	4	2	1	0	0	0	0	1	0	0	0	17246	1174	41	3	155	3	VPS26A	10	70892799	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	65650637	70892799	64641948	45	211											
LIPF	8513	hgsc.bcm.edu	37	10	90429680	90429680	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr10:90429680G>T	ENST00000238983.4	+	5	555	c.509G>T	c.(508-510)gGc>gTc	p.G170V	LIPF_ENST00000394375.3_Missense_Mutation_p.G180V|LIPF_ENST00000355843.2_Missense_Mutation_p.G147V|LIPF_ENST00000608620.1_Missense_Mutation_p.G137V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	170					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)	CACTATGTTGGCCATTCCCAG	0.433																																					p.G180V		.											.	.	.	0			c.G539T						.						220	204	210					10																	90429680		2203	4300	6503	SO:0001583	missense	8513	exon6			ATGTTGGCCATTC	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.509G>T	10.37:g.90429680G>T	ENSP00000238983:p.Gly170Val	71	0		54	3	NM_001198829	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638785	0.67130	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	D;D;D	0.93659	-3.26;-3.26;-3.26	5.24	5.24	0.73138	Alpha/beta hydrolase fold-1 (1);	0.000000	0.56097	D	0.000027	D	0.98283	0.9431	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.99494	1.0951	10	0.87932	D	0	-10.4813	17.7661	0.88478	0.0:0.0:1.0:0.0	.	137;180;147;170	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	180;170;137	ENSP00000377900:G180V;ENSP00000238983:G170V;ENSP00000348101:G137V	ENSP00000238983:G170V	G	+	2	0	LIPF	90419660	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	7.286000	0.78671	2.718000	0.92993	0.650000	0.86243	GGC	.		0.433	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			T	90429680	G	T	90429680	3	4	2	1	0	0	0	0	1	0	0	0	8852	1203	42	3	523	3	LIPF	10	90429680	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	19536881	90429680	45105067	46	212											
NFKB2	4791	hgsc.bcm.edu	37	10	104157131	104157131	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr10:104157131G>T	ENST00000369966.3	+	7	718	c.468G>T	c.(466-468)agG>agT	p.R156S	NFKB2_ENST00000428099.1_Missense_Mutation_p.R156S|NFKB2_ENST00000189444.6_Missense_Mutation_p.R156S	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	156	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)	AACTTCAGAGGCAGCGGCTCC	0.567			T	IGH@	B-NHL																																p.R156S		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	.	.	0			c.G468T						.						90	93	92					10																	104157131		1883	4112	5995	SO:0001583	missense	4791	exon7			TCAGAGGCAGCGG	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.468G>T	10.37:g.104157131G>T	ENSP00000358983:p.Arg156Ser	60	0		60	4	NM_001077494	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173192	0.38413	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.39997	1.05;1.05;1.05	5.4	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.289830	0.38897	N	0.001540	T	0.39200	0.1069	L	0.55990	1.75	0.48288	D	0.999625	B;P;P	0.46142	0.195;0.873;0.638	B;B;B	0.42087	0.083;0.375;0.245	T	0.24621	-1.0155	10	0.45353	T	0.12	.	10.5579	0.45129	0.1484:0.0:0.8516:0.0	.	156;156;156	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	S	156	ENSP00000410256:R156S;ENSP00000358983:R156S;ENSP00000189444:R156S	ENSP00000189444:R156S	R	+	3	2	NFKB2	104147121	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.694000	0.47035	1.271000	0.44313	0.561000	0.74099	AGG	.		0.567	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			T	104157131	G	T	104157131	3	4	2	1	0	0	0	0	1	0	0	0	10415	1194	42	3	490	3	NFKB2	10	104157131	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	13727451	104157131	31377616	47	213											
GRK5	2869	ucsc.edu	37	10	121184542	121184542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr10:121184542G>T	ENST00000392870.2	+	6	807	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.E55*	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	160	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)		ACCATTCCACGAATATCTGGA	0.498																																					p.E160X													.	GRK5	58	0			c.G478T						.						205	160	175					10																	121184542		2203	4300	6503	SO:0001587	stop_gained	2869	exon6			TTCCACGAATATC	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.478G>T	10.37:g.121184542G>T	ENSP00000376609:p.Glu160*	68	0		38	4	NM_005308	D3DRD0|Q5T059	Nonsense_Mutation	SNP	ENST00000392870.2	37	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	g	37	6.158722	0.97334	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	.	.	.	5.17	1.23	0.21249	.	0.512122	0.18047	N	0.153423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.424	2.4826	0.04591	0.2108:0.1276:0.5298:0.1318	.	.	.	.	X	160;55;55	.	ENSP00000358104:E55X	E	+	1	0	GRK5	121174532	0.998000	0.40836	0.576000	0.28549	0.940000	0.58332	2.821000	0.48065	-0.017000	0.14103	-0.194000	0.12790	GAA	.		0.498	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		T	121184542	G	T	121184542	4	4	2	1	0	0	0	0	0	1	0	0	6819	1059	37	2	500	2	GRK5	10	121184542	Nonsense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	17027411	121184542	14350205	48	214											
GPR123	84435	hgsc.bcm.edu	37	10	134912152	134912152	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr10:134912152G>A	ENST00000392607.3	+	4	576	c.140G>A	c.(139-141)cGc>cAc	p.R47H	GPR123_ENST00000607359.1_Missense_Mutation_p.R767H	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	47					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)	p.R767L(1)|p.R47L(1)		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)		AGCGCCATCCGCATCAGCCGC	0.662																																					p.R47H		.											GPR123_ENST00000368577,NS,carcinoma,0,2	GPR123_ENST00000368577	0	2	Substitution - Missense(2)	lung(2)	c.G140A						.						57	52	54					10																	134912152		2203	4300	6503	SO:0001583	missense	84435	exon4			CCATCCGCATCAG	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.140G>A	10.37:g.134912152G>A	ENSP00000376384:p.Arg47His	47	0		37	2	NM_001083909	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663128	0.67700	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.47528	0.84	4.35	4.35	0.52113	GPCR, family 2-like (1);	0.000000	0.47093	D	0.000248	T	0.59280	0.2182	M	0.67397	2.05	0.80722	D	1	P;P	0.50710	0.938;0.879	P;P	0.54210	0.745;0.553	T	0.63808	-0.6553	10	0.54805	T	0.06	-44.621	14.7362	0.69416	0.0:0.0:1.0:0.0	.	47;767	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	H	767;767;47	ENSP00000376384:R47H	ENSP00000357566:R767H	R	+	2	0	GPR123	134762142	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	4.776000	0.62354	2.143000	0.66587	0.655000	0.94253	CGC	.		0.662	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			A	134912152	G	A	134912152	3	1	2	1	0	0	0	0	1	0	0	0	6663	1087	38	1	150	1	GPR123	10	134912152	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	13727610	134912152	622595	49	215											
KRTAP5-5	439915	ucsc.edu	37	11	1651645	1651645	+	Missense_Mutation	SNP	A	A	G	rs77039648		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr11:1651645A>G	ENST00000399676.2	+	1	613	c.575A>G	c.(574-576)tAc>tGc	p.Y192C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	192	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)		TGTAAGCCCTACTGCTGCCAG	0.602																																					p.Y192C													.	KRTAP5-5	86	0			c.A575G						.						78	86	83					11																	1651645		2200	4299	6499	SO:0001583	missense	439915	exon1			AGCCCTACTGCTG	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.575A>G	11.37:g.1651645A>G	ENSP00000382584:p.Tyr192Cys	38	8		40	8	NM_001001480	A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.537048	0.00942	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01323	5.01	2.94	0.953	0.19590	.	.	.	.	.	T	0.00468	0.0015	N	0.00186	-1.895	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42413	-0.9453	8	0.37606	T	0.19	.	4.0328	0.09716	0.1469:0.2455:0.6076:0.0	.	192	Q701N2	KRA55_HUMAN	C	192;163	ENSP00000382584:Y192C	ENSP00000382584:Y192C	Y	+	2	0	KRTAP5-5	1608221	0.002000	0.14202	0.035000	0.18076	0.003000	0.03518	0.006000	0.13152	0.009000	0.14813	-1.591000	0.00844	TAC	A|0.999;G|0.001		0.602	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			G	1651645	A	G	1651645	3	3	2	1	0	0	0	0	1	0	0	0	8592	391	14	4	577	4	KRTAP5-5	11	1651645	Missense_Mutation	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09		1651645	133354871	50	216											
MICAL2	9645	hgsc.bcm.edu;bcgsc.ca	37	11	12244189	12244189	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr11:12244189C>A	ENST00000256194.4	+	11	1636	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	MICAL2_ENST00000537344.1_Missense_Mutation_p.Q450K|MICAL2_ENST00000379612.3_Missense_Mutation_p.Q450K|MICAL2_ENST00000527546.1_Missense_Mutation_p.Q450K|MICAL2_ENST00000342902.5_Missense_Mutation_p.Q450K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	450	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)	p.Q450*(1)		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)		GCTGTTACCTCAGACAACCCC	0.567																																					p.Q450K		.											MICAL2_ENST00000379612,NS,carcinoma,0,2	MICAL2_ENST00000379612	0	1	Substitution - Nonsense(1)	lung(1)	c.C1348A						.						90	72	78					11																	12244189		2201	4294	6495	SO:0001583	missense	9645	exon11			TTACCTCAGACAA	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.1348C>A	11.37:g.12244189C>A	ENSP00000256194:p.Gln450Lys	64	0		62	4	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271884	0.95429	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	4.98	4.98	0.66077	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.84683	2.71	0.80722	D	1	P;D;D;P;D	0.65815	0.949;0.995;0.991;0.916;0.981	P;D;P;B;P	0.69479	0.495;0.964;0.814;0.299;0.546	T	0.31971	-0.9924	10	0.72032	D	0.01	.	18.4096	0.90546	0.0:1.0:0.0:0.0	.	450;450;450;450;450	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	K	450	ENSP00000441689:Q450K;ENSP00000256194:Q450K;ENSP00000433965:Q450K;ENSP00000344894:Q450K;ENSP00000368932:Q450K	ENSP00000256194:Q450K	Q	+	1	0	MICAL2	12200765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.609000	0.82925	2.746000	0.94184	0.655000	0.94253	CAG	.		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12244189	C	A	12244189	3	1	2	1	0	0	0	0	1	0	0	0	9608	827	29	3	1382	3	MICAL2	11	12244189	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	10592544	12244189	122762327	51	217											
ARFGAP2	84364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47196607	47196607	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr11:47196607G>T	ENST00000524782.1	-	5	667	c.439C>A	c.(439-441)Cca>Aca	p.P147T	ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000419701.2_Intron|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	147	Required for interaction with coatomer.				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						TTCTTCTCTGGGGAGTGATTA	0.478																																					p.P147T		.											.	.	.	0			c.C439A						.						307	319	315					11																	47196607		2201	4298	6499	SO:0001583	missense	84364	exon5			TCTCTGGGGAGTG	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.439C>A	11.37:g.47196607G>T	ENSP00000434442:p.Pro147Thr	59	0		49	17	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712620	0.68730	.	.	ENSG00000149182	ENST00000524782;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.52	5.52	0.82312	.	0.165679	0.53938	D	0.000056	T	0.57330	0.2046	M	0.77313	2.365	0.80722	D	1	D;P	0.55172	0.97;0.847	P;B	0.53809	0.735;0.293	T	0.57871	-0.7736	10	0.38643	T	0.18	-12.5506	15.009	0.71536	0.0:0.1418:0.8582:0.0	.	147;147	B7Z6H9;Q8N6H7	.;ARFG2_HUMAN	T	147;147;147;147;140	ENSP00000434442:P147T;ENSP00000431939:P147T;ENSP00000434809:P147T;ENSP00000431684:P147T;ENSP00000435488:P140T	ENSP00000434442:P147T	P	-	1	0	ARFGAP2	47153183	1.000000	0.71417	0.995000	0.50966	0.674000	0.39518	3.621000	0.54210	2.595000	0.87683	0.655000	0.94253	CCA	.		0.478	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		T	47196607	G	T	47196607	3	4	2	1	0	0	0	0	1	0	0	0	850	1232	43	3	1174	3	ARFGAP2	11	47196607	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	34952418	47196607	87809909	52	218											
AGBL2	79841	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	47701557	47701557	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr11:47701557G>T	ENST00000525123.1	-	13	2269	c.1984C>A	c.(1984-1986)Ctt>Att	p.L662I	AGBL2_ENST00000298861.4_Missense_Mutation_p.L662I|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.L624I|AGBL2_ENST00000357610.3_Missense_Mutation_p.L662I	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	662						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						AAGTCCAGAAGGGTGTCACAG	0.428																																					p.L662I		.											.	.	.	0			c.C1984A						.						111	106	107					11																	47701557		2201	4298	6499	SO:0001583	missense	79841	exon13			CCAGAAGGGTGTC		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.1984C>A	11.37:g.47701557G>T	ENSP00000435582:p.Leu662Ile	54	0		42	4	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936132	0.52972	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.26	3.36	0.38483	.	0.065683	0.56097	N	0.000031	T	0.40498	0.1119	M	0.84585	2.705	0.38098	D	0.937169	P;B;B	0.36065	0.535;0.225;0.351	B;B;B	0.39771	0.309;0.163;0.163	T	0.46992	-0.9151	10	0.52906	T	0.07	-7.2886	3.4245	0.07405	0.2268:0.0:0.5728:0.2004	.	624;624;662	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	I	45;662;662;662;624	ENSP00000435582:L662I;ENSP00000350228:L662I;ENSP00000298861:L662I;ENSP00000436630:L624I	ENSP00000298861:L662I	L	-	1	0	AGBL2	47658133	0.999000	0.42202	0.961000	0.40146	0.958000	0.62258	2.830000	0.48136	1.182000	0.42928	0.555000	0.69702	CTT	.		0.428	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		T	47701557	G	T	47701557	3	4	2	1	0	0	0	0	1	0	0	0	376	1000	35	3	752	3	AGBL2	11	47701557	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	504950	47701557	87304959	53	219											
ZDHHC24	254359	hgsc.bcm.edu	37	11	66311234	66311234	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr11:66311234G>T	ENST00000310442.3	-	2	734	c.500C>A	c.(499-501)gCc>gAc	p.A167D	ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.A167D	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	167	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A167V(1)		endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GGGCGTGTGGGCTCGCAGCAG	0.687											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A167D		.											ZDHHC24,colon,carcinoma,0,1	ZDHHC24	0	1	Substitution - Missense(1)	large_intestine(1)	c.C500A						.						27	27	27					11																	66311234		2196	4290	6486	SO:0001583	missense	254359	exon2			GTGTGGGCTCGCA	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.500C>A	11.37:g.66311234G>T	ENSP00000309429:p.Ala167Asp	39	0	1090	36	2	NM_207340	Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832454	0.71258	.	.	ENSG00000174165	ENST00000526986;ENST00000310442	T;T	0.59906	0.23;1.87	3.91	3.91	0.45181	.	0.070453	0.56097	D	0.000035	T	0.54255	0.1847	N	0.20401	0.57	0.42263	D	0.99202	D;P	0.55605	0.972;0.789	D;P	0.64595	0.927;0.531	T	0.46359	-0.9197	10	0.10111	T	0.7	-13.4446	11.2834	0.49208	0.0:0.0:1.0:0.0	.	167;167	E9PLR9;Q6UX98	.;ZDH24_HUMAN	D	167	ENSP00000431321:A167D;ENSP00000309429:A167D	ENSP00000309429:A167D	A	-	2	0	ZDHHC24	66067810	1.000000	0.71417	0.971000	0.41717	0.887000	0.51463	4.349000	0.59385	2.027000	0.59764	0.462000	0.41574	GCC	.		0.687	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		T	66311234	G	T	66311234	3	4	2	1	0	0	0	0	1	0	0	0	17663	1203	42	3	362	3	ZDHHC24	11	66311234	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	18609677	66311234	68695282	54	220											
B3GNT6	192134	hgsc.bcm.edu	37	11	76751604	76751604	+	Splice_Site	SNP	T	T	C	rs11292200		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr11:76751604T>C	ENST00000354301.5	+	5	1094	c.1006T>C	c.(1006-1008)Ttg>Ctg	p.L336L	B3GNT6_ENST00000533140.1_Silent_p.L337L|B3GNT6_ENST00000421061.1_Silent_p.L215L	NM_138706.3	NP_619651.3	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGCGTGCAGCTTGCCTGGCGC	0.667																																					.		.											.,6	.	27	0			c.1006+1T>C						.						2	2	2					11																	76751604		1100	2039	3139	SO:0001630	splice_region_variant	192134	exon4			TGCAGCTTGCCTG	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000354301.5:c.1006-1T>C	11.37:g.76751604T>C		16	1		16	3	NM_138706	Q4TTN0	Splice_Site	SNP	ENST00000354301.5	37		.	.	.	.	.	.	.	.	.	.	-	0.001	-71.507872	0.00000	.	.	ENSG00000198488	ENST00000354301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	B3GNT6	76429252	0.186000	0.23225	0.999000	0.59377	0.794000	0.44872	-0.076000	0.11412	0.000000	0.14550	0.000000	0.15137	.	.		0.667	B3GNT6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138706	Silent	C	76751604	T	C	76751604	5	2	2	1	0	0	0	0	0	0	1	0	1262	1606	56	4	1011	4	B3GNT6	11	76751604	Splice_Site	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	10440370	76751604	58254912	55	221											
ROBO4	54538	hgsc.bcm.edu;broad.mit.edu	37	11	124763789	124763789	+	Missense_Mutation	SNP	G	G	A	rs374471211		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr11:124763789G>A	ENST00000306534.3	-	9	1956	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.R346C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	491					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)	p.R491C(1)		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)		CGGCGCCGGCGGTGGATACAC	0.647																																					p.R491C		.											ROBO4,NS,carcinoma,+1,1	ROBO4	+1	1	Substitution - Missense(1)	lung(1)	c.C1471T						.	G	CYS/ARG	1,4399		0,1,2199	19	22	21		1471	3.2	0.6	11		21	1,8595		0,1,4297	no	missense	ROBO4	NM_019055.5	180	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	491/1008	124763789	2,12994	2200	4298	6498	SO:0001583	missense	54538	exon9			GCCGGCGGTGGAT	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.1471C>T	11.37:g.124763789G>A	ENSP00000304945:p.Arg491Cys	8	0		10	3	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910782	0.72983	2.27E-4	1.16E-4	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68181	-0.31;0.08	5.31	3.16	0.36331	.	0.000000	0.33712	N	0.004622	T	0.70911	0.3278	L	0.56769	1.78	0.42356	D	0.992396	D;D;D	0.89917	0.994;0.999;1.0	P;P;P	0.59703	0.653;0.862;0.828	T	0.68823	-0.5307	10	0.54805	T	0.06	.	6.2249	0.20701	0.1046:0.0:0.7132:0.1822	.	491;381;491	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	491;381;346	ENSP00000304945:R491C;ENSP00000437129:R346C	ENSP00000304945:R491C	R	-	1	0	ROBO4	124268999	1.000000	0.71417	0.621000	0.29145	0.996000	0.88848	0.711000	0.25764	0.438000	0.26450	0.655000	0.94253	CGC	.		0.647	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		A	124763789	G	A	124763789	3	1	2	1	0	0	0	0	1	0	0	0	13561	1116	39	1	1592	1	ROBO4	11	124763789	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	48012185	124763789	10242727	56	222											
LRRC23	10233	hgsc.bcm.edu	37	12	7022136	7022136	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr12:7022136G>T	ENST00000007969.8	+	7	1221	c.1001G>T	c.(1000-1002)cGt>cTt	p.R334L	LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000323702.5_Intron|ENO2_ENST00000538763.1_5'Flank|ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000541477.1_5'Flank|ENO2_ENST00000229277.1_5'Flank|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000443597.2_Missense_Mutation_p.R334L|ENO2_ENST00000544774.1_5'Flank|ENO2_ENST00000545045.2_5'Flank	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	334										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GAGCCCCAGCGTGACCTGGAA	0.562																																					p.R334L		.											.	.	.	0			c.G1001T						.						141	143	142					12																	7022136		2203	4300	6503	SO:0001583	missense	10233	exon7			CCCAGCGTGACCT	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.1001G>T	12.37:g.7022136G>T	ENSP00000007969:p.Arg334Leu	60	0		53	3	NM_001135217	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323740	0.24080	.	.	ENSG00000010626	ENST00000007969;ENST00000443597	T;T	0.62498	0.02;0.02	5.27	-1.48	0.08745	.	.	.	.	.	T	0.27027	0.0662	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	9	0.29301	T	0.29	0.2883	2.0878	0.03650	0.4996:0.2417:0.1417:0.1169	.	334;334	A8K8K2;Q53EV4	.;LRC23_HUMAN	L	334	ENSP00000007969:R334L;ENSP00000390932:R334L	ENSP00000007969:R334L	R	+	2	0	LRRC23	6892397	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.150000	0.16263	0.069000	0.16605	-1.200000	0.01667	CGT	.		0.562	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		T	7022136	G	T	7022136	3	4	2	1	0	0	0	0	1	0	0	0	9013	1145	40	2	1023	2	LRRC23	12	7022136	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		7022136	126829759	57	223											
RPAP3	79657	hgsc.bcm.edu	37	12	48062853	48062853	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr12:48062853T>C	ENST00000005386.3	-	14	1674	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	RPAP3_ENST00000380650.4_Missense_Mutation_p.Q486R|RPAP3_ENST00000432584.3_Missense_Mutation_p.Q361R	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	520								p.Q520P(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GCTGTAAGACTGACATACATC	0.408																																					p.Q520R		.											RPAP3,rectum,carcinoma,0,1	RPAP3	0	1	Substitution - Missense(1)	large_intestine(1)	c.A1559G						.						155	155	155					12																	48062853		2203	4300	6503	SO:0001583	missense	79657	exon14			TAAGACTGACATA	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.1559A>G	12.37:g.48062853T>C	ENSP00000005386:p.Gln520Arg	68	0		48	2	NM_024604	B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	T	9.772	1.172887	0.21704	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.14893	2.88;2.47;2.89	5.9	4.76	0.60689	.	1.982520	0.02035	N	0.048895	T	0.27063	0.0663	L	0.60455	1.87	0.25942	N	0.98286	P;B	0.43094	0.799;0.016	P;B	0.45138	0.471;0.025	T	0.10941	-1.0608	10	0.37606	T	0.19	.	7.4042	0.26981	0.0:0.0758:0.1442:0.78	.	486;520	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	R	520;361;486	ENSP00000005386:Q520R;ENSP00000401823:Q361R;ENSP00000370024:Q486R	ENSP00000005386:Q520R	Q	-	2	0	RPAP3	46349120	1.000000	0.71417	0.478000	0.27316	0.235000	0.25334	1.854000	0.39368	1.064000	0.40671	0.523000	0.50628	CAG	.		0.408	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		C	48062853	T	C	48062853	3	2	2	1	0	0	0	0	1	0	0	0	13588	1580	55	4	454	4	RPAP3	12	48062853	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	41040717	48062853	85789042	58	224											
KRT3	3850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53189250	53189250	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr12:53189250G>T	ENST00000417996.2	-	1	651	c.577C>A	c.(577-579)Caa>Aaa	p.Q193K	KRT3_ENST00000309505.3_Missense_Mutation_p.Q193K	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	193	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						GCCTTTACTTGCCCAATCTGG	0.532																																					p.Q193K		.											.	.	.	0			c.C577A						.						77	95	89					12																	53189250		2203	4297	6500	SO:0001583	missense	3850	exon1			TTACTTGCCCAAT		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.577C>A	12.37:g.53189250G>T	ENSP00000413479:p.Gln193Lys	117	0		65	23	NM_057088	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	g	0.985	-0.695835	0.03279	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.83837	-1.77;-1.77	4.82	1.38	0.22167	.	0.435191	0.17612	N	0.168049	T	0.63212	0.2492	N	0.13235	0.315	0.21064	N	0.999792	B	0.22003	0.063	B	0.15870	0.014	T	0.45160	-0.9280	10	0.07990	T	0.79	.	9.0449	0.36341	0.0:0.1678:0.4769:0.3553	.	193	P12035	K2C3_HUMAN	K	193	ENSP00000413479:Q193K;ENSP00000312206:Q193K	ENSP00000312206:Q193K	Q	-	1	0	KRT3	51475517	0.000000	0.05858	0.988000	0.46212	0.990000	0.78478	0.102000	0.15272	0.492000	0.27815	0.650000	0.86243	CAA	.		0.532	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53189250	G	T	53189250	3	4	2	1	0	0	0	0	1	0	0	0	8493	1328	46	3	1345	3	KRT3	12	53189250	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	5126397	53189250	80662645	59	225											
SP7	121340	ucsc.edu;bcgsc.ca	37	12	53722690	53722690	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr12:53722690T>C	ENST00000536324.2	-	3	819	c.536A>G	c.(535-537)cAa>cGa	p.Q179R	SP7_ENST00000303846.3_Missense_Mutation_p.Q179R|SP7_ENST00000537210.2_Missense_Mutation_p.Q161R	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	179					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CAGTGTCCCTTGCAGCCCATC	0.622																																					p.Q179R													.	SP7	30	0			c.A536G						.						32	38	36					12																	53722690		2051	4184	6235	SO:0001583	missense	121340	exon2			GTCCCTTGCAGCC	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.536A>G	12.37:g.53722690T>C	ENSP00000443827:p.Gln179Arg	26	0		28	4	NM_152860	B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005036	0.35415	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.50548	3.19;3.19;3.17;0.74	3.47	2.3	0.28687	.	0.152208	0.43919	D	0.000502	T	0.33673	0.0871	L	0.48642	1.525	0.29843	N	0.829093	P	0.41524	0.753	B	0.37451	0.25	T	0.24012	-1.0172	10	0.14252	T	0.57	.	8.9083	0.35537	0.0:0.0:0.363:0.637	.	179	Q8TDD2	SP7_HUMAN	R	179;179;161;161	ENSP00000443827:Q179R;ENSP00000302812:Q179R;ENSP00000441367:Q161R;ENSP00000449355:Q161R	ENSP00000302812:Q179R	Q	-	2	0	SP7	52008957	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.615000	0.54167	0.686000	0.31488	0.260000	0.18958	CAA	.		0.622	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			C	53722690	T	C	53722690	3	2	2	1	0	0	0	0	1	0	0	0	15014	1812	63	4	763	4	SP7	12	53722690	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	533440	53722690	80129205	60	226											
KIAA0586	9786	ucsc.edu;bcgsc.ca	37	14	58955379	58955379	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr14:58955379G>T	ENST00000556134.1	+	25	3797	c.3523G>T	c.(3523-3525)Gat>Tat	p.D1175Y	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D1114Y|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D1243Y|KIAA0586_ENST00000423743.3_Missense_Mutation_p.D1146Y	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1175					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						AGAGAGTATGGATTTCCCTGC	0.483																																					p.D1243Y													.	KIAA0586	180	0			c.G3727T						.						122	128	126					14																	58955379		1962	4148	6110	SO:0001583	missense	9786	exon26			AGTATGGATTTCC	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.3523G>T	14.37:g.58955379G>T	ENSP00000452351:p.Asp1175Tyr	50	0		40	4	NM_001244189	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269605	0.40095	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.38	3.52	0.40303	.	0.287036	0.30890	N	0.008671	T	0.51770	0.1694	.	.	.	0.09310	N	1	P;P;D;P;P	0.65815	0.753;0.935;0.995;0.85;0.919	B;P;P;B;B	0.61201	0.329;0.545;0.885;0.329;0.42	T	0.34825	-0.9813	9	0.28530	T	0.3	.	5.8736	0.18816	0.1993:0.1754:0.6253:0.0	.	1050;1243;1114;1175;1146	B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;K0586_HUMAN;.	Y	1243;1175;1146;1114	ENSP00000346359:D1243Y;ENSP00000452351:D1175Y;ENSP00000399427:D1146Y;ENSP00000261244:D1114Y	ENSP00000261244:D1114Y	D	+	1	0	KIAA0586	58025132	0.044000	0.20184	0.005000	0.12908	0.971000	0.66376	0.743000	0.26231	1.399000	0.46721	0.585000	0.79938	GAT	.		0.483	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		T	58955379	G	T	58955379	3	4	2	1	0	0	0	0	1	0	0	0	8213	1174	41	3	3430	3	KIAA0586	14	58955379	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		58955379	48394161	61	227											
CYFIP1	23191	bcgsc.ca	37	15	22925822	22925822	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:22925822G>T	ENST00000313077.7	+	2	165	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	CYFIP1_ENST00000560848.1_Missense_Mutation_p.V14L	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)		GCTGTCCAACGTGGACCTCCT	0.662																																					p.V14L													.	CYFIP1	159	0			c.G40T						.						41	40	40					15																	22925822		2203	4300	6503	SO:0001583	missense	23191	exon2			TCCAACGTGGACC	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.40G>T	15.37:g.22925822G>T	ENSP00000324549:p.Val14Leu	28	0		20	3	NM_014608		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133082	0.94517	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.40476	1.03	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	T	0.66915	0.2838	M	0.81497	2.545	0.80722	D	1	D;P	0.55605	0.972;0.761	D;B	0.65773	0.938;0.426	T	0.65747	-0.6093	10	0.40728	T	0.16	-39.3067	19.6223	0.95663	0.0:0.0:1.0:0.0	.	72;14	E7EQ04;Q7L576	.;CYFP1_HUMAN	L	14;72	ENSP00000324549:V14L	ENSP00000324549:V14L	V	+	1	0	CYFIP1	20477263	1.000000	0.71417	0.966000	0.40874	0.746000	0.42486	9.592000	0.98245	2.712000	0.92718	0.561000	0.74099	GTG	.		0.662	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22925822	G	T	22925822	3	4	2	1	0	0	0	0	1	0	0	0	4146	1145	40	2	42	2	CYFIP1	15	22925822	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		22925822	79605570	62	228											
CYFIP1	23191	broad.mit.edu	37	15	23000152	23000152	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:23000152G>T	ENST00000313077.7	+	30	3631	c.3506G>T	c.(3505-3507)gGg>gTg	p.G1169V	CYFIP1_ENST00000435939.2_Missense_Mutation_p.G738V|CYFIP1_ENST00000560848.1_Missense_Mutation_p.G1169V	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)		GTACTTCTTGGGCAGCAGCGG	0.453																																					p.G1169V													.	CYFIP1	159	0			c.G3506T						.						186	161	170					15																	23000152		2203	4300	6503	SO:0001583	missense	23191	exon30			TTCTTGGGCAGCA	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.3506G>T	15.37:g.23000152G>T	ENSP00000324549:p.Gly1169Val	63	0		58	3	NM_014608		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460805	0.84317	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.24723	1.84;1.84	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000007	T	0.56381	0.1981	M	0.85197	2.74	0.80722	D	1	D;P	0.76494	0.999;0.879	D;P	0.68621	0.959;0.865	T	0.65125	-0.6244	10	0.87932	D	0	-34.3153	18.2666	0.90054	0.0:0.0:1.0:0.0	.	738;1169	Q7L576-2;Q7L576	.;CYFP1_HUMAN	V	1169;1171;738	ENSP00000324549:G1169V;ENSP00000405956:G738V	ENSP00000324549:G1169V	G	+	2	0	CYFIP1	20551593	1.000000	0.71417	0.981000	0.43875	0.744000	0.42396	9.807000	0.99171	2.328000	0.79073	0.313000	0.20887	GGG	.		0.453	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	23000152	G	T	23000152	3	4	2	1	0	0	0	0	1	0	0	0	4146	1232	43	3	4001	3	CYFIP1	15	23000152	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	74330	23000152	79531240	63	229											
RYR3	6263	broad.mit.edu	37	15	34018689	34018689	+	Silent	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:34018689C>T	ENST00000389232.4	+	46	7085	c.7015C>T	c.(7015-7017)Ctg>Ttg	p.L2339L	RYR3_ENST00000415757.3_Silent_p.L2339L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2339	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)		CCCCTTGAAACTGCCCTCCCT	0.612																																					p.L2339L													.	RYR3	760	0			c.C7015T						.						41	44	43					15																	34018689		2026	4170	6196	SO:0001819	synonymous_variant	6263	exon46			TTGAAACTGCCCT		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.7015C>T	15.37:g.34018689C>T		39	0		21	3	NM_001243996	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			.		0.612	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34018689	C	T	34018689	2	4	2	1	0	0	0	0	0	0	0	1	13815	564	20	3		3	RYR3	15	34018689	Silent	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	11018537	34018689	68512703	64	230											
C15orf54	400360	ucsc.edu;bcgsc.ca	37	15	39544794	39544794	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:39544794C>T	ENST00000318578.3	+	2	826	c.458C>T	c.(457-459)gCt>gTt	p.A153V	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.A153V	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	153										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)		GCTCATGCTGCTGACAGGGGA	0.453																																					p.A153V													.	C15orf54	18	0			c.C458T						.						107	92	97					15																	39544794		2200	4297	6497	SO:0001583	missense	400360	exon2			ATGCTGCTGACAG		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.458C>T	15.37:g.39544794C>T	ENSP00000323686:p.Ala153Val	42	0		36	4	NM_207445	B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853612	0.32791	.	.	ENSG00000175746	ENST00000318578	T	0.38560	1.13	4.41	-0.147	0.13428	.	.	.	.	.	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18999	-1.0319	9	0.87932	D	0	.	3.3119	0.07020	0.3326:0.4513:0.0:0.2161	.	153	Q8N8G6	CO054_HUMAN	V	153	ENSP00000323686:A153V	ENSP00000323686:A153V	A	+	2	0	C15orf54	37332086	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.030000	0.13688	-0.096000	0.12329	-1.106000	0.02097	GCT	.		0.453	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		T	39544794	C	T	39544794	3	4	2	1	0	0	0	0	1	0	0	0	1807	797	28	3	460	3	C15orf54	15	39544794	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	5526105	39544794	62986598	65	231											
SEMA6D	80031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	48063949	48063949	+	Silent	SNP	A	A	G			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:48063949A>G	ENST00000316364.5	+	19	3628	c.3189A>G	c.(3187-3189)ccA>ccG	p.P1063P	SEMA6D_ENST00000536845.2_Silent_p.P1063P|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Silent_p.P1044P|SEMA6D_ENST00000354744.4_Silent_p.P1007P|SEMA6D_ENST00000358066.4_Silent_p.P1001P|SEMA6D_ENST00000537942.1_Silent_p.P1001P|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Silent_p.P1020P|SEMA6D_ENST00000389428.3_Silent_p.P988P|SEMA6D_ENST00000558014.1_Silent_p.P1001P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1063					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)		CTCAAACCCCATCTGTCAGAC	0.488																																					p.P1063P		.											.	.	.	0			c.A3189G						.						171	170	171					15																	48063949		2198	4296	6494	SO:0001819	synonymous_variant	80031	exon19			AACCCCATCTGTC	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.3189A>G	15.37:g.48063949A>G		32	0		18	8	NM_153618	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																			.		0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		G	48063949	A	G	48063949	2	3	2	1	0	0	0	0	0	0	0	1	14087	204	8	4		4	SEMA6D	15	48063949	Silent	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09	8519155	48063949	54467443	66	232											
MTFMT	123263	hgsc.bcm.edu	37	15	65295439	65295439	+	Missense_Mutation	SNP	C	C	A	rs374393377		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:65295439C>A	ENST00000220058.4	-	9	1144	c.1131G>T	c.(1129-1131)aaG>aaT	p.K377N		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	377						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TTTTTTTCTGCTTCTTCTTTG	0.348																																					p.K377N		.											MTFMT_ENST00000220058,NS,carcinoma,0,2	MTFMT_ENST00000220058	0	0			c.G1131T						.						115	105	108					15																	65295439		1835	4093	5928	SO:0001583	missense	123263	exon9			TTTCTGCTTCTTC	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.1131G>T	15.37:g.65295439C>A	ENSP00000220058:p.Lys377Asn	48	0		44	3	NM_139242	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395133	0.25205	.	.	ENSG00000103707	ENST00000220058	T	0.66815	-0.23	5.65	-0.953	0.10362	.	1.333030	0.04503	N	0.381507	T	0.50446	0.1616	L	0.29908	0.895	0.09310	N	1	B	0.32245	0.361	B	0.30495	0.116	T	0.44390	-0.9331	10	0.66056	D	0.02	-2.3978	2.4072	0.04415	0.116:0.406:0.1137:0.3644	.	377	Q96DP5	FMT_HUMAN	N	377	ENSP00000220058:K377N	ENSP00000220058:K377N	K	-	3	2	MTFMT	63082492	0.474000	0.25886	0.001000	0.08648	0.632000	0.37999	0.550000	0.23345	-0.054000	0.13266	-0.143000	0.13931	AAG	.		0.348	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		A	65295439	C	A	65295439	3	1	2	1	0	0	0	0	1	0	0	0	9962	796	28	3	42	3	MTFMT	15	65295439	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	17231490	65295439	37235953	67	233											
WDR93	56964	hgsc.bcm.edu;ucsc.edu	37	15	90281353	90281353	+	Missense_Mutation	SNP	C	C	G	rs373980931		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:90281353C>G	ENST00000268130.7	+	16	1948	c.1847C>G	c.(1846-1848)cCa>cGa	p.P616R	WDR93_ENST00000444934.2_Missense_Mutation_p.P333R|WDR93_ENST00000560294.1_Missense_Mutation_p.P588R	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	616					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)			GAGGCCTGCCCACTCCTGGAA	0.448																																					p.P616R		.											.	.	.	0			c.C1847G						.						237	244	242					15																	90281353		2200	4299	6499	SO:0001583	missense	56964	exon16			CCTGCCCACTCCT		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.1847C>G	15.37:g.90281353C>G	ENSP00000268130:p.Pro616Arg	19	0		28	4	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346034	0.41599	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.48522	1.82;0.81	5.0	2.83	0.33086	.	0.393191	0.21459	N	0.074186	T	0.57829	0.2080	L	0.59436	1.845	0.20489	N	0.999896	D;D	0.76494	0.996;0.999	P;D	0.66351	0.858;0.943	T	0.44877	-0.9299	10	0.72032	D	0.01	-0.8905	7.3898	0.26903	0.176:0.7257:0.0:0.0983	.	588;616	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	R	616;333	ENSP00000268130:P616R;ENSP00000403871:P333R	ENSP00000268130:P616R	P	+	2	0	WDR93	88082357	0.001000	0.12720	0.949000	0.38748	0.623000	0.37688	0.485000	0.22324	1.079000	0.41038	0.650000	0.86243	CCA	.		0.448	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		G	90281353	C	G	90281353	3	3	2	1	0	0	0	0	1	0	0	0	17389	594	21	5	1905	5	WDR93	15	90281353	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	24985914	90281353	12250039	68	234											
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	90631837	90631837	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr15:90631837C>A	ENST00000330062.3	-	4	629	c.516G>T	c.(514-516)agG>agT	p.R172S	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42S|IDH2_ENST00000540499.2_Missense_Mutation_p.R120S	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172S(17)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637			M		GBM																																p.R172S		.		Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	IDH2,NS,haematopoietic_neoplasm,-1,19	IDH2	-1	18	Substitution - Missense(18)	bone(11)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(1)|large_intestine(1)	c.G516T						.						85	80	82					15																	90631837		2200	4298	6498	SO:0001583	missense	3418	exon4			GGCGTGCCTGCCA		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.516G>T	15.37:g.90631837C>A	ENSP00000331897:p.Arg172Ser	38	0		37	13	NM_002168	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068847	0.36470	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86865	-2.18;-2.18;-2.18	5.93	-3.19	0.05171	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	H	0.98487	4.245	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	5.0108	0.14312	0.237:0.2848:0.0:0.4782	.	172	P48735	IDHP_HUMAN	S	172;42;120	ENSP00000331897:R172S;ENSP00000438457:R42S;ENSP00000446147:R120S	ENSP00000331897:R172S	R	-	3	2	IDH2	88432841	0.145000	0.22656	0.004000	0.12327	0.001000	0.01503	-0.449000	0.06812	-0.649000	0.05430	-1.288000	0.01363	AGG	.		0.637	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			A	90631837	C	A	90631837	3	1	2	1	0	0	0	0	1	0	0	0	7522	738	26	3	874	3	IDH2	15	90631837	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	350484	90631837	11899555	69	235											
KREMEN2	79412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	3016345	3016345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:3016345C>A	ENST00000303746.5	+	4	958	c.381C>A	c.(379-381)tgC>tgA	p.C127*	KREMEN2_ENST00000575769.1_Nonsense_Mutation_p.C127*|PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000571007.1_Nonsense_Mutation_p.C127*|KREMEN2_ENST00000572045.1_Nonsense_Mutation_p.C127*|PAQR4_ENST00000576565.1_5'Flank|KREMEN2_ENST00000319500.6_Nonsense_Mutation_p.C127*|KREMEN2_ENST00000575885.1_Nonsense_Mutation_p.C127*|PAQR4_ENST00000293978.8_5'Flank|PAQR4_ENST00000318782.8_5'Flank			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	127	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						ACCTGGGATGCTTTGTGGACT	0.642																																					p.C127X		.											.	.	.	0			c.C381A						.						103	115	111					16																	3016345		2198	4300	6498	SO:0001587	stop_gained	79412	exon4			GGGATGCTTTGTG	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.381C>A	16.37:g.3016345C>A	ENSP00000304422:p.Cys127*	49	0		36	11	NM_001253725	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Nonsense_Mutation	SNP	ENST00000303746.5	37	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	C	39	7.482206	0.98312	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	.	.	.	4.81	3.84	0.44239	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3091	0.49353	0.0:0.907:0.0:0.093	.	.	.	.	X	127	.	ENSP00000304422:C127X	C	+	3	2	KREMEN2	2956346	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.445000	0.35079	2.217000	0.71921	0.462000	0.41574	TGC	.		0.642	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		A	3016345	C	A	3016345	4	1	2	1	0	0	0	0	0	1	0	0	8470	805	28	3	395	3	KREMEN2	16	3016345	Nonsense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09		3016345	87338408	70	236											
DNAJA3	9093	broad.mit.edu	37	16	4497003	4497003	+	Silent	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:4497003G>T	ENST00000262375.6	+	8	1190	c.1113G>T	c.(1111-1113)acG>acT	p.T371T	DNAJA3_ENST00000355296.4_Silent_p.T371T|DNAJA3_ENST00000431375.2_Silent_p.T218T	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	371					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						TGTACGAGACGATCAACGTGA	0.522																																					p.T371T													.	DNAJA3	52	0			c.G1113T						.						67	68	67					16																	4497003		2197	4300	6497	SO:0001819	synonymous_variant	9093	exon8			CGAGACGATCAAC	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.1113G>T	16.37:g.4497003G>T		31	0		22	3	NM_001135110	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Silent	SNP	ENST00000262375.6	37	CCDS10515.1																																																																																			.		0.522	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			T	4497003	G	T	4497003	2	4	2	1	0	0	0	0	0	0	0	1	4627	1045	37	2		2	DNAJA3	16	4497003	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	1480658	4497003	85857750	71	237											
ACSM5	54988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	20442583	20442583	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:20442583G>C	ENST00000331849.4	+	10	1395	c.1248G>C	c.(1246-1248)gaG>gaC	p.E416D		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	416					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						CTGGAGAAGAGGGGAATGTTG	0.527																																					p.E416D		.											.	.	.	0			c.G1248C						.						185	154	164					16																	20442583		2203	4300	6503	SO:0001583	missense	54988	exon10			AGAAGAGGGGAAT		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.1248G>C	16.37:g.20442583G>C	ENSP00000327916:p.Glu416Asp	43	0		30	4	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563519	0.65651	.	.	ENSG00000183549	ENST00000331849	T	0.42900	0.96	4.37	1.26	0.21427	AMP-dependent synthetase/ligase (1);	0.114998	0.38005	N	0.001860	T	0.48187	0.1486	M	0.80028	2.48	0.29766	N	0.835188	B	0.34061	0.436	B	0.43575	0.424	T	0.52465	-0.8572	10	0.72032	D	0.01	-13.6579	6.318	0.21202	0.4827:0.0:0.5173:0.0	.	416	Q6NUN0	ACSM5_HUMAN	D	416	ENSP00000327916:E416D	ENSP00000327916:E416D	E	+	3	2	ACSM5	20350084	1.000000	0.71417	0.985000	0.45067	0.899000	0.52679	0.572000	0.23684	0.392000	0.25172	0.650000	0.86243	GAG	.		0.527	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		C	20442583	G	C	20442583	3	2	2	1	0	0	0	0	1	0	0	0	187	991	35	5	1282	5	ACSM5	16	20442583	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	15945580	20442583	69912170	72	238											
MAZ	4150	hgsc.bcm.edu	37	16	29821450	29821450	+	Silent	SNP	A	A	G	rs372438870		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:29821450A>G	ENST00000322945.6	+	5	1497	c.1332A>G	c.(1330-1332)gcA>gcG	p.A444A	PRRT2_ENST00000300797.6_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Missense_Mutation_p.S101G|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000545521.1_Silent_p.A421A|AC009133.14_ENST00000563806.1_RNA|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000568544.1_Silent_p.A45A|MAZ_ENST00000562337.1_Silent_p.A139A|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000566906.2_Missense_Mutation_p.S99G|AC009133.14_ENST00000569981.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	444	Poly-Ala.			Missing (in Ref. 3). {ECO:0000305}.	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						cggcagcggcagcagcggcag	0.662																																					p.A444A	Colon(72;875 1167 15364 30899 37091)	.											.	.	.	0			c.A1332G						.	A	,	2,3900		0,2,1949	12	17	15		,1332	-6.5	0.1	16		15	13,8015		0,13,4001	no	utr-3,coding-synonymous	MAZ	NM_001042539.1,NM_002383.2	,	0,15,5950	GG,GA,AA		0.1619,0.0513,0.1257	,	,444/478	29821450	15,11915	1951	4014	5965	SO:0001819	synonymous_variant	4150	exon5			AGCGGCAGCAGCG	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.1332A>G	16.37:g.29821450A>G		20	0		24	6	NM_002383	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Silent	SNP	ENST00000322945.6	37	CCDS42143.1																																																																																			.		0.662	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		G	29821450	A	G	29821450	2	3	2	1	0	0	0	0	0	0	0	1	9378	175	7	4		4	MAZ	16	29821450	Silent	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09	9378867	29821450	60533303	73	239											
ITGAX	3687	hgsc.bcm.edu	37	16	31372509	31372509	+	Silent	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:31372509G>T	ENST00000268296.4	+	9	1108	c.987G>T	c.(985-987)ctG>ctT	p.L329L	ITGAX_ENST00000562522.1_Silent_p.L329L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	329	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	p.L329L(1)		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						AAAACCAACTGAAGGAGAAGA	0.453																																					p.L329L		.											ITGAX,NS,carcinoma,0,1	ITGAX	0	1	Substitution - coding silent(1)	lung(1)	c.G987T						.						125	133	130					16																	31372509		2197	4300	6497	SO:0001819	synonymous_variant	3687	exon9			CCAACTGAAGGAG	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.987G>T	16.37:g.31372509G>T		71	0		48	2	NM_000887	Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																			.		0.453	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31372509	G	T	31372509	2	4	2	1	0	0	0	0	0	0	0	1	7916	1277	45	3		3	ITGAX	16	31372509	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	1551059	31372509	58982244	74	240											
RSPRY1	89970	hgsc.bcm.edu;bcgsc.ca	37	16	57247850	57247850	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:57247850C>A	ENST00000537866.1	+	6	1567	c.694C>A	c.(694-696)Cag>Aag	p.Q232K	RSPRY1_ENST00000394420.4_Missense_Mutation_p.Q232K			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	232						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						ATACTTGCTACAGTGTCTGGT	0.363																																					p.Q232K		.											.	.	.	0			c.C694A						.						162	157	158					16																	57247850		2198	4300	6498	SO:0001583	missense	89970	exon6			TTGCTACAGTGTC	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.694C>A	16.37:g.57247850C>A	ENSP00000443176:p.Gln232Lys	98	0		86	4	NM_133368	Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	8.966	0.971712	0.18736	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.63096	-0.02;-0.02	5.67	5.67	0.87782	.	0.205923	0.50627	D	0.000114	T	0.42291	0.1196	N	0.12746	0.255	0.44282	D	0.997141	B	0.10296	0.003	B	0.04013	0.001	T	0.34204	-0.9838	10	0.08837	T	0.75	.	15.6065	0.76676	0.0:0.8631:0.1369:0.0	.	232	Q96DX4	RSPRY_HUMAN	K	232	ENSP00000377942:Q232K;ENSP00000443176:Q232K	ENSP00000377942:Q232K	Q	+	1	0	RSPRY1	55805351	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.418000	0.66429	2.836000	0.97738	0.655000	0.94253	CAG	.		0.363	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		A	57247850	C	A	57247850	3	1	2	1	0	0	0	0	1	0	0	0	13758	479	17	3	712	3	RSPRY1	16	57247850	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	25875341	57247850	33106903	75	241											
EXOC3L	283849	ucsc.edu;bcgsc.ca	37	16	67220210	67220210	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:67220210T>C	ENST00000314586.6	-	9	1666	c.1426A>G	c.(1426-1428)Agg>Ggg	p.R476G	KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000290881.7_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	476					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						GATTTCCCCCTGAAGTGGTCT	0.597											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R476G													.	EXOC3L1	52	0			c.A1426G						.						67	51	57					16																	67220210		2195	4288	6483	SO:0001583	missense	283849	exon9			TCCCCCTGAAGTG	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.1426A>G	16.37:g.67220210T>C	ENSP00000325674:p.Arg476Gly	46	0	1097	33	4	NM_178516	A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.612087	0.46631	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.07800	3.16;3.16	5.58	4.46	0.54185	.	0.251482	0.46145	D	0.000312	T	0.11665	0.0284	M	0.65975	2.015	0.34467	D	0.702363	P;P;B	0.39576	0.628;0.679;0.27	B;B;B	0.39217	0.194;0.294;0.192	T	0.14839	-1.0458	10	0.42905	T	0.14	-4.1194	10.388	0.44152	0.0:0.0:0.1645:0.8355	.	373;373;476	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	G	476;373;378	ENSP00000325674:R476G;ENSP00000439910:R373G	ENSP00000325008:R378G	R	-	1	2	EXOC3L1	65777711	0.159000	0.22864	0.861000	0.33841	0.127000	0.20565	1.814000	0.38972	0.922000	0.37019	0.379000	0.24179	AGG	.		0.597	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		C	67220210	T	C	67220210	3	2	2	1	0	0	0	0	1	0	0	0	5320	1579	55	4	838	4	EXOC3L	16	67220210	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	9972360	67220210	23134543	76	242											
ZNF821	55565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	71894451	71894451	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr16:71894451C>T	ENST00000565601.1	-	7	1116	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	ZNF821_ENST00000425432.1_Missense_Mutation_p.V237M|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000446827.2_Missense_Mutation_p.V195M|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.V195M	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	237					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						TTGTTGCACACAAGCAGAATT	0.532																																					p.V237M		.											.	.	.	0			c.G709A						.						121	109	113					16																	71894451		2198	4300	6498	SO:0001583	missense	55565	exon7			TGCACACAAGCAG	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.709G>A	16.37:g.71894451C>T	ENSP00000455648:p.Val237Met	48	0		29	14	NM_001201553	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382951	0.82792	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01464	6.45;4.86;4.86	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	L	0.42245	1.32	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.80764	0.991;0.994;0.991	T	0.16129	-1.0413	10	0.54805	T	0.06	-14.7095	19.6787	0.95950	0.0:1.0:0.0:0.0	.	237;195;237	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	M	237;195;195	ENSP00000398089:V237M;ENSP00000313822:V195M;ENSP00000405908:V195M	ENSP00000313822:V195M	V	-	1	0	ZNF821	70451952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.636000	0.89361	0.655000	0.94253	GTG	.		0.532	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		T	71894451	C	T	71894451	3	4	2	1	0	0	0	0	1	0	0	0	18226	478	17	3	533	3	ZNF821	16	71894451	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	4674241	71894451	18460302	77	243											
CLEC10A	10462	hgsc.bcm.edu	37	17	6979444	6979444	+	Missense_Mutation	SNP	G	G	A	rs376732406		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr17:6979444G>A	ENST00000254868.4	-	6	708	c.380C>T	c.(379-381)aCg>aTg	p.T127M	CLEC10A_ENST00000571664.1_Intron|CLEC10A_ENST00000576617.1_Intron|CLEC10A_ENST00000416562.2_Intron	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	127					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						TGCCTTCTGCGTAGTGTGTTC	0.597																																					p.T127M		.											CLEC10A,NS,carcinoma,0,2	CLEC10A	0	0			c.C380T						.	G	,MET/THR	0,4406		0,0,2203	66	57	60		,380	-0.9	0	17		60	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	CLEC10A	NM_006344.2,NM_182906.2	,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,127/317	6979444	1,13005	2203	4300	6503	SO:0001583	missense	10462	exon6			TTCTGCGTAGTGT	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.380C>T	17.37:g.6979444G>A	ENSP00000254868:p.Thr127Met	61	0		57	3	NM_182906	A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	ENST00000254868.4	37	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	g	9.322	1.058181	0.19987	0.0	1.16E-4	ENSG00000132514	ENST00000254868	T	0.17370	2.28	2.85	-0.849	0.10723	Hepatic lectin, N-terminal (1);	3.454410	0.00998	N	0.003632	T	0.08935	0.0221	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.14578	0.011	T	0.24584	-1.0156	10	0.45353	T	0.12	.	3.9466	0.09350	0.0:0.1401:0.4608:0.3991	.	127	Q8IUN9	CLC10_HUMAN	M	127	ENSP00000254868:T127M	ENSP00000254868:T127M	T	-	2	0	CLEC10A	6920168	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	-0.074000	0.12820	-0.346000	0.07831	ACG	.		0.597	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		A	6979444	G	A	6979444	3	1	2	1	0	0	0	0	1	0	0	0	3502	1145	40	1	595	1	CLEC10A	17	6979444	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		6979444	74215766	78	244											
KDM6B	23135	hgsc.bcm.edu	37	17	7750177	7750177	+	Missense_Mutation	SNP	T	T	C	rs375218857|rs61462443		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr17:7750177T>C	ENST00000448097.2	+	9	1083	c.752T>C	c.(751-753)tTa>tCa	p.L251S	KDM6B_ENST00000254846.5_Missense_Mutation_p.L251S			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	251	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccacca	0.612																																					p.L251S		.											.,2	.	95	0			c.T752C						.						30	27	28					17																	7750177		2195	4284	6479	SO:0001583	missense	23135	exon9			CACCATTACCACC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.752T>C	17.37:g.7750177T>C	ENSP00000412513:p.Leu251Ser	17	0		11	3	NM_001080424	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	T	5.427	0.264015	0.10294	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.36520	1.25;1.25	5.23	3.0	0.34707	.	1.773790	0.04118	U	0.315852	T	0.18383	0.0441	N	0.08118	0	0.09310	N	1	B	0.25609	0.13	B	0.21917	0.037	T	0.25012	-1.0144	10	0.15499	T	0.54	0.3492	3.4931	0.07645	0.1653:0.1862:0.0:0.6486	.	251	O15054-1	.	S	251	ENSP00000254846:L251S;ENSP00000412513:L251S	ENSP00000254846:L251S	L	+	2	0	KDM6B	7690902	0.726000	0.28059	0.844000	0.33320	0.850000	0.48378	0.575000	0.23729	0.410000	0.25675	0.379000	0.24179	TTA	.		0.612	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		C	7750177	T	C	7750177	3	2	2	1	0	0	0	0	1	0	0	0	8165	1764	61	4	774	4	KDM6B	17	7750177	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	770733	7750177	73445033	79	245											
GPR179	440435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	36483728	36483728	+	Silent	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr17:36483728C>T	ENST00000342292.4	-	11	5744	c.5724G>A	c.(5722-5724)ttG>ttA	p.L1908L	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1908					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)				CTGTTGCTTCCAAGGAATGTC	0.517																																					p.L1908L		.											.	.	.	0			c.G5724A						.						82	80	81					17																	36483728		1922	4146	6068	SO:0001819	synonymous_variant	440435	exon11			TGCTTCCAAGGAA		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.5724G>A	17.37:g.36483728C>T		16	0		33	10	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			.		0.517	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36483728	C	T	36483728	2	4	2	1	0	0	0	0	0	0	0	1	6700	593	21	3		3	GPR179	17	36483728	Silent	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	28733551	36483728	44711482	80	246											
SKAP1	8631	hgsc.bcm.edu	37	17	46262165	46262165	+	Missense_Mutation	SNP	G	G	A	rs573034197		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr17:46262165G>A	ENST00000336915.6	-	7	556	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	SKAP1_ENST00000584924.1_Missense_Mutation_p.R163W|RP11-456D7.1_ENST00000582246.1_RNA	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	163	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)	p.R163W(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGCCATCCGTACACCGTAG	0.542																																					p.R163W		.											SKAP1,NS,carcinoma,0,2	SKAP1	0	1	Substitution - Missense(1)	prostate(1)	c.C487T						.						125	106	112					17																	46262165		2203	4300	6503	SO:0001583	missense	8631	exon7			CCATCCGTACACC	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.487C>T	17.37:g.46262165G>A	ENSP00000338171:p.Arg163Trp	42	0		38	3	NM_003726	D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396557	0.83011	.	.	ENSG00000141293	ENST00000336915	T	0.77489	-1.1	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.211232	0.41194	D	0.000939	D	0.86781	0.6015	M	0.67397	2.05	0.45046	D	0.998066	D;D	0.89917	1.0;1.0	P;D	0.65443	0.863;0.935	D	0.87835	0.2647	10	0.72032	D	0.01	-53.9291	18.7013	0.91621	0.0:0.0:1.0:0.0	.	163;163	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	W	163	ENSP00000338171:R163W	ENSP00000338171:R163W	R	-	1	2	SKAP1	43617164	1.000000	0.71417	0.982000	0.44146	0.912000	0.54170	3.289000	0.51747	2.509000	0.84616	0.557000	0.71058	CGG	.		0.542	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		A	46262165	G	A	46262165	3	1	2	1	0	0	0	0	1	0	0	0	14400	1144	40	1	616	1	SKAP1	17	46262165	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	9778437	46262165	34933045	81	247											
TUBD1	51174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	57944110	57944110	+	Splice_Site	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr17:57944110C>A	ENST00000592426.1	-	6	935	c.935G>T	c.(934-936)gGt>gTt	p.G312V	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000394239.3_Splice_Site_p.G312V|TUBD1_ENST00000539018.1_Splice_Site_p.G96V|TUBD1_ENST00000346141.6_Splice_Site_p.G58V|TUBD1_ENST00000325752.3_Splice_Site_p.G312V|TUBD1_ENST00000340993.6_Splice_Site_p.G257V			Q9UJT1	TBD_HUMAN	tubulin, delta 1	312					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CCTATCAATACCTACCAAAAG	0.393																																					p.G312V		.											.	.	.	0			c.G935T						.						54	50	51					17																	57944110		2203	4300	6503	SO:0001630	splice_region_variant	51174	exon7			TCAATACCTACCA	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.935-1G>T	17.37:g.57944110C>A		70	0		57	24	NM_016261	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063418	0.55432	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000539018	T;T;T;T	0.80566	-1.13;-0.77;-1.39;-0.8	5.4	5.4	0.78164	Tubulin/FtsZ, C-terminal (1);	0.097701	0.64402	D	0.000001	D	0.91036	0.7180	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.997;0.988;0.996	D;D;D;D;D	0.97110	0.98;1.0;0.964;0.925;0.943	D	0.91161	0.4961	10	0.52906	T	0.07	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	312;58;257;257;312	E9PCA7;Q9UJT1-3;Q5KU37;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	V	312;257;58;312;96	ENSP00000320797:G312V;ENSP00000342399:G257V;ENSP00000342561:G58V;ENSP00000377785:G312V	ENSP00000320797:G312V	G	-	2	0	TUBD1	55298892	1.000000	0.71417	0.998000	0.56505	0.119000	0.20118	5.048000	0.64238	2.684000	0.91462	0.650000	0.86243	GGT	.		0.393	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261	Missense_Mutation	A	57944110	C	A	57944110	5	1	2	1	0	0	0	0	0	0	1	0	16811	521	18	3	438	3	TUBD1	17	57944110	Splice_Site	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	11681945	57944110	23251100	82	248											
SEC14L1	6397	broad.mit.edu	37	17	75210105	75210105	+	Silent	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr17:75210105G>A	ENST00000413679.2	+	17	2451	c.2148G>A	c.(2146-2148)taG>taA	p.*716*	SEC14L1_ENST00000585618.1_Silent_p.*716*|SEC14L1_ENST00000436233.4_Silent_p.*716*|SEC14L1_ENST00000392476.2_Intron|SEC14L1_ENST00000443798.4_Intron|SEC14L1_ENST00000591437.1_Silent_p.*682*|SEC14L1_ENST00000430767.4_Silent_p.*716*|SEC14L1_ENST00000431431.2_Silent_p.*682*	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	0					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTCCAGGTAGTGCCGCGCTG	0.672																																					p.X716X													.	SEC14L1	81	0			c.G2148A						.						55	50	52					17																	75210105		2203	4300	6503	SO:0001819	synonymous_variant	6397	exon17			CAGGTAGTGCCGC	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.2148G>A	17.37:g.75210105G>A		77	0		72	5	NM_001143999	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	CCDS11752.1																																																																																			.		0.672	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		A	75210105	G	A	75210105	2	1	2	1	0	0	0	0	0	0	0	1	14026	1024	36	3		3	SEC14L1	17	75210105	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	17265995	75210105	5985105	83	249											
ROCK1	6093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	18629827	18629827	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr18:18629827T>A	ENST00000399799.2	-	3	1130	c.190A>T	c.(190-192)Aat>Tat	p.N64Y		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	64					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|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 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)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGATTTTATTTATTGTGTCT	0.294																																					p.N64Y		.											.	.	.	0			c.A190T						.						91	81	85					18																	18629827		2203	4299	6502	SO:0001583	missense	6093	exon3			TTTTATTTATTGT		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.190A>T	18.37:g.18629827T>A	ENSP00000382697:p.Asn64Tyr	22	0		30	11	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179006	0.57692	.	.	ENSG00000067900	ENST00000399799	T	0.65732	-0.17	5.53	5.53	0.82687	Protein kinase-like domain (1);	0.184196	0.56097	D	0.000027	T	0.55146	0.1902	L	0.34521	1.04	0.52501	D	0.99995	B	0.26902	0.163	B	0.28849	0.095	T	0.56792	-0.7920	10	0.72032	D	0.01	.	15.9523	0.79850	0.0:0.0:0.0:1.0	.	64	Q13464	ROCK1_HUMAN	Y	64	ENSP00000382697:N64Y	ENSP00000382697:N64Y	N	-	1	0	ROCK1	16883825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.076000	0.64413	2.226000	0.72624	0.533000	0.62120	AAT	.		0.294	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18629827	T	A	18629827	3	1	2	1	0	0	0	0	1	0	0	0	13562	1841	64	5	3998	5	ROCK1	18	18629827	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09		18629827	59447421	84	250											
TCF4	6925	hgsc.bcm.edu	37	18	52895478	52895478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr18:52895478G>T	ENST00000356073.4	-	19	2593	c.1982C>A	c.(1981-1983)tCg>tAg	p.S661*	TCF4_ENST00000354452.3_Nonsense_Mutation_p.S665*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.S641*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.S590*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.S641*|TCF4_ENST00000537856.3_Nonsense_Mutation_p.S531*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.S637*|TCF4_ENST00000570287.2_Nonsense_Mutation_p.S501*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.S661*|TCF4_ENST00000561831.3_Nonsense_Mutation_p.S501*|TCF4_ENST00000543082.1_Nonsense_Mutation_p.S619*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.S601*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.S767*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.S665*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.S658*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.S605*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.S636*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.S505*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.S531*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.S531*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.S671*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.S594*	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	661					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)		CATGTGATTCGATGCGTCTCC	0.493																																					p.S767X		.											TCF4_ENST00000398339,NS,carcinoma,0,2	TCF4_ENST00000398339	0	0			c.C2300A						.						112	94	100					18																	52895478		2203	4300	6503	SO:0001587	stop_gained	6925	exon20			TGATTCGATGCGT	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.1982C>A	18.37:g.52895478G>T	ENSP00000348374:p.Ser661*	68	0		42	2	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	Nonsense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	37	6.454640	0.97581	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	.	.	.	5.72	5.72	0.89469	.	0.372056	0.28470	N	0.015235	.	.	.	.	.	.	0.53005	D	0.999963	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-1.4801	18.6583	0.91462	0.0:0.0:1.0:0.0	.	.	.	.	X	665;505;661;619;637;641;594;531;767	.	ENSP00000346440:S665X	S	-	2	0	TCF4	51046476	0.858000	0.29795	0.389000	0.26208	0.984000	0.73092	4.514000	0.60482	2.689000	0.91719	0.650000	0.86243	TCG	.		0.493	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		T	52895478	G	T	52895478	4	4	2	1	0	0	0	0	0	1	0	0	15742	1059	37	2	25	2	TCF4	18	52895478	Nonsense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	34265651	52895478	25181770	85	251											
ATP8B3	148229	bcgsc.ca	37	19	1783099	1783099	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:1783099G>T	ENST00000310127.6	-	29	4069	c.3831C>A	c.(3829-3831)agC>agA	p.S1277R	ATP8B3_ENST00000539485.1_Missense_Mutation_p.S1287R|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S1240R	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1277					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)		CTATGTCACTGCTGACCCCTG	0.552																																					p.S1277R													.	ATP8B3	108	0			c.C3831A						.						75	75	75					19																	1783099		2068	4209	6277	SO:0001583	missense	148229	exon29			GTCACTGCTGACC	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.3831C>A	19.37:g.1783099G>T	ENSP00000311336:p.Ser1277Arg	30	0		18	3	NM_138813	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537965	0.13188	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.57907	0.37;0.49;0.46	4.29	-1.1	0.09872	.	1.012940	0.07929	U	0.977259	T	0.32704	0.0838	L	0.40543	1.245	0.09310	N	1	B;P	0.34462	0.244;0.454	B;B	0.27380	0.075;0.079	T	0.16041	-1.0416	10	0.16420	T	0.52	.	3.0929	0.06299	0.0929:0.1494:0.4518:0.3059	.	1277;1240	O60423;Q7Z485	AT8B3_HUMAN;.	R	1277;1287;1240	ENSP00000311336:S1277R;ENSP00000443574:S1287R;ENSP00000437115:S1240R	ENSP00000311336:S1277R	S	-	3	2	ATP8B3	1734099	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.591000	0.23969	0.027000	0.15297	0.561000	0.74099	AGC	.		0.552	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1783099	G	T	1783099	3	4	2	1	0	0	0	0	1	0	0	0	1197	1310	46	3	75	3	ATP8B3	19	1783099	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		1783099	57345884	86	252											
MUC16	94025	bcgsc.ca	37	19	9070320	9070320	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:9070320G>C	ENST00000397910.4	-	3	17329	c.17126C>G	c.(17125-17127)gCc>gGc	p.A5709G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5711	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						AGCATGCATGGCTTCTGTGTG	0.512																																					p.A5709G													.	MUC16	4315	0			c.C17126G						.						169	163	165					19																	9070320		2099	4216	6315	SO:0001583	missense	94025	exon3			TGCATGGCTTCTG	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.17126C>G	19.37:g.9070320G>C	ENSP00000381008:p.Ala5709Gly	59	0		37	4	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.573	-0.840234	0.02692	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	1.54	-3.09	0.05331	.	.	.	.	.	T	0.12603	0.0306	L	0.36672	1.1	.	.	.	B	0.17667	0.023	B	0.14023	0.01	T	0.29458	-1.0011	8	0.87932	D	0	.	0.7916	0.01058	0.1509:0.1894:0.2779:0.3817	.	5709	B5ME49	.	G	5709	ENSP00000381008:A5709G	ENSP00000381008:A5709G	A	-	2	0	MUC16	8931320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.540000	0.00937	-1.850000	0.01169	-2.151000	0.00333	GCC	.		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9070320	G	C	9070320	3	2	2	1	0	0	0	0	1	0	0	0	10011	1203	42	5	26725	5	MUC16	19	9070320	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	7287221	9070320	50058663	87	253											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	9089654	9089654	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:9089654T>C	ENST00000397910.4	-	1	2364	c.2161A>G	c.(2161-2163)Agc>Ggc	p.S721G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	721	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						ATGCTGGTGCTTATCTTGGTG	0.493																																					p.S721G		.											.	.	.	0			c.A2161G						.						115	115	115					19																	9089654		2104	4234	6338	SO:0001583	missense	94025	exon1			TGGTGCTTATCTT	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.2161A>G	19.37:g.9089654T>C	ENSP00000381008:p.Ser721Gly	36	0		30	6	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.573	0.290637	0.10567	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.56	0.427	0.16489	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.34722	0.188	T	0.48758	-0.9007	8	0.87932	D	0	.	4.2875	0.10862	0.0:0.0:0.3614:0.6386	.	721	B5ME49	.	G	721	ENSP00000381008:S721G	ENSP00000381008:S721G	S	-	1	0	MUC16	8950654	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	0.264000	0.18497	0.057000	0.16193	0.172000	0.16884	AGC	.		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9089654	T	C	9089654	3	2	2	1	0	0	0	0	1	0	0	0	10011	1609	56	4	41698	4	MUC16	19	9089654	Missense_Mutation	SNP	T	TCGA-3X-AAVA-01A-11D-A417-09	19334	9089654	50039329	88	254											
TMEM147	10430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36037440	36037440	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:36037440G>T	ENST00000222284.5	+	3	305	c.160G>T	c.(160-162)Gcc>Tcc	p.A54S	TMEM147_ENST00000392204.2_Missense_Mutation_p.A5S|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.A54S|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	54						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTTCTTGGCCACTTTCTT	0.537																																					p.A54S		.											.	.	.	0			c.G160T						.						156	134	141					19																	36037440		2203	4300	6503	SO:0001583	missense	10430	exon3			TTCTTGGCCACTT	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.160G>T	19.37:g.36037440G>T	ENSP00000222284:p.Ala54Ser	45	0		21	7	NM_001242598	A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894444	0.91889	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.59364	0.27;0.27;0.27	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.88842	2.985	0.80722	D	1	D	0.65815	0.995	P	0.62885	0.908	T	0.82438	-0.0457	10	0.72032	D	0.01	.	16.2094	0.82147	0.0:0.0:1.0:0.0	.	54	Q9BVK8	TM147_HUMAN	S	5;54;54	ENSP00000376040:A5S;ENSP00000222284:A54S;ENSP00000376041:A54S	ENSP00000222284:A54S	A	+	1	0	TMEM147	40729280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.735000	0.84939	2.676000	0.91093	0.655000	0.94253	GCC	.		0.537	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		T	36037440	G	T	36037440	3	4	2	1	0	0	0	0	1	0	0	0	16108	1203	42	3	170	3	TMEM147	19	36037440	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	26947786	36037440	23091543	89	255											
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	38579446	38579446	+	Silent	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:38579446G>A	ENST00000222345.6	+	4	2129	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	540					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)			ACCACAAGGAGCACGGACCTC	0.517																																					p.E540E		.											.	.	.	0			c.G1620A						.						146	119	128					19																	38579446		2203	4300	6503	SO:0001819	synonymous_variant	23094	exon4			CAAGGAGCACGGA	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.1620G>A	19.37:g.38579446G>A		46	0		35	12	NM_015073	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.517	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38579446	G	A	38579446	2	1	2	1	0	0	0	0	0	0	0	1	14376	962	34	3		3	SIPA1L3	19	38579446	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	2542006	38579446	20549537	90	256											
RELB	5971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45532159	45532159	+	Silent	SNP	A	A	G			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:45532159A>G	ENST00000221452.8	+	8	1050	c.900A>G	c.(898-900)acA>acG	p.T300T	RELB_ENST00000540120.1_Silent_p.T300T|RELB_ENST00000505236.1_Silent_p.T297T	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	300	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCACAAACACATCAGAGCTGC	0.527																																					.		.											.	.	.	0			.						.						28	28	28					19																	45532159		1893	4097	5990	SO:0001819	synonymous_variant	5971	p.T300T			AAACACATCAGAG	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.900A>G	19.37:g.45532159A>G		59	0		38	15	.	Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	CCDS46110.1																																																																																			.		0.527	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			G	45532159	A	G	45532159	2	3	2	1	0	0	0	0	0	0	0	1	13262	204	8	4		4	RELB	19	45532159	Silent	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09	6952713	45532159	13596824	91	257											
KLK5	25818	broad.mit.edu	37	19	51453322	51453322	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:51453322C>T	ENST00000336334.3	-	3	476	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	KLK5_ENST00000593428.1_Missense_Mutation_p.V42M|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.V42M|CTB-147C22.8_ENST00000601506.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	42				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CCAGAGGGCACGGTGTTAGAG	0.617																																					p.V42M													.	KLK5	37	0			c.G124A						.						43	42	42					19																	51453322		2203	4300	6503	SO:0001583	missense	25818	exon3			AGGGCACGGTGTT	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.124G>A	19.37:g.51453322C>T	ENSP00000337733:p.Val42Met	50	0		38	3	NM_012427	Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	c	9.781	1.175289	0.21704	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.89050	-2.46;-2.46	4.58	-0.518	0.11943	.	2.198380	0.03047	U	0.154118	T	0.72890	0.3517	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.25759	0.063	T	0.68432	-0.5410	10	0.33940	T	0.23	.	4.3209	0.11016	0.161:0.5432:0.0:0.2958	.	42	Q9Y337	KLK5_HUMAN	M	42	ENSP00000337733:V42M;ENSP00000375685:V42M	ENSP00000337733:V42M	V	-	1	0	KLK5	56145134	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.702000	0.05069	0.352000	0.24053	0.563000	0.77884	GTG	.		0.617	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		T	51453322	C	T	51453322	3	4	2	1	0	0	0	0	1	0	0	0	8434	536	19	1	773	1	KLK5	19	51453322	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	5921163	51453322	7675661	92	258											
LENG1	79165	hgsc.bcm.edu	37	19	54662171	54662171	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:54662171G>T	ENST00000222224.3	-	2	347	c.161C>A	c.(160-162)gCc>gAc	p.A54D		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	54										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGATGTCTGGCTTTCTTCCG	0.547																																					p.A54D		.											LENG1,NS,neuroblastoma,0,1	LENG1	0	0			c.C161A						.						83	85	84					19																	54662171		2203	4300	6503	SO:0001583	missense	79165	exon2			TGTCTGGCTTTCT	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.161C>A	19.37:g.54662171G>T	ENSP00000222224:p.Ala54Asp	59	0		46	2	NM_024316	Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	37	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899213	0.91962	.	.	ENSG00000105617	ENST00000222224	T	0.53206	0.63	5.18	5.18	0.71444	.	0.115003	0.64402	D	0.000020	T	0.75049	0.3797	M	0.91406	3.205	0.58432	D	0.999994	D	0.89917	1.0	D	0.76575	0.988	T	0.78089	-0.2340	10	0.39692	T	0.17	-16.4582	17.8446	0.88725	0.0:0.0:1.0:0.0	.	54	Q96BZ8	LENG1_HUMAN	D	54	ENSP00000222224:A54D	ENSP00000222224:A54D	A	-	2	0	LENG1	59353983	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.488000	0.73637	2.582000	0.87167	0.655000	0.94253	GCC	.		0.547	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		T	54662171	G	T	54662171	3	4	2	1	0	0	0	0	1	0	0	0	8751	1203	42	3	645	3	LENG1	19	54662171	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	3208849	54662171	4466812	93	259											
LILRB1	10859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	55146734	55146734	+	Silent	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:55146734G>A	ENST00000396331.1	+	13	1941	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	LILRB1_ENST00000396315.1_Silent_p.Q529Q|LILRB1_ENST00000434867.2_Silent_p.Q528Q|LILRB1_ENST00000427581.2_Silent_p.Q578Q|LILRB1_ENST00000448689.1_Missense_Mutation_p.R503K|LILRB1_ENST00000324602.7_Silent_p.Q529Q|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Silent_p.Q512Q|LILRB1_ENST00000396321.2_Silent_p.Q528Q|LILRB1_ENST00000396332.4_Silent_p.Q528Q|LILRB1_ENST00000396327.3_Silent_p.Q529Q|LILRB1_ENST00000418536.2_Silent_p.Q512Q	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	528					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)		CCGATGCCCAGGAAGAAAACC	0.612										HNSCC(37;0.09)																											p.Q529Q		.											.	.	.	0			c.G1587A						.						64	71	68					19																	55146734		2203	4299	6502	SO:0001819	synonymous_variant	10859	exon12			TGCCCAGGAAGAA	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.1584G>A	19.37:g.55146734G>A		65	0		41	11	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.522143	0.00967	.	.	ENSG00000104972	ENST00000448689	T	0.00530	6.77	1.35	0.215	0.15253	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38286	-0.9668	6	0.28530	T	0.3	.	3.65	0.08199	0.2705:0.0:0.7295:0.0	.	.	.	.	K	503	ENSP00000409968:R503K	ENSP00000410165:R503K	R	+	2	0	LILRB1	59838546	0.350000	0.24878	0.027000	0.17364	0.064000	0.16182	0.691000	0.25467	0.114000	0.18032	0.205000	0.17691	AGG	.		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55146734	G	A	55146734	2	1	2	1	0	0	0	0	0	0	0	1	8819	991	35	3		3	LILRB1	19	55146734	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	484563	55146734	3982249	94	260											
ZNF416	55659	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	58084364	58084364	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr19:58084364C>A	ENST00000196489.3	-	4	1130	c.908G>T	c.(907-909)tGt>tTt	p.C303F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	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)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TGATTTCCCACACTGACCACA	0.443																																					p.C303F		.											.	.	.	0			c.G908T						.						84	83	84					19																	58084364		2203	4300	6503	SO:0001583	missense	55659	exon4			TTCCCACACTGAC	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.908G>T	19.37:g.58084364C>A	ENSP00000196489:p.Cys303Phe	45	0		28	4	NM_017879	Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998890	0.74818	.	.	ENSG00000083817	ENST00000196489	D	0.85861	-2.04	3.72	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95268	0.8465	H	0.98646	4.29	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97042	0.9758	9	0.87932	D	0	.	14.7895	0.69830	0.0:1.0:0.0:0.0	.	303	Q9BWM5	ZN416_HUMAN	F	303	ENSP00000196489:C303F	ENSP00000196489:C303F	C	-	2	0	ZNF416	62776176	1.000000	0.71417	0.817000	0.32601	0.997000	0.91878	4.002000	0.57053	2.068000	0.61886	0.655000	0.94253	TGT	.		0.443	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		A	58084364	C	A	58084364	3	1	2	1	0	0	0	0	1	0	0	0	17941	478	17	3	880	3	ZNF416	19	58084364	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09	2937630	58084364	1044619	95	261											
GZF1	64412	ucsc.edu;bcgsc.ca	37	20	23345860	23345860	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr20:23345860G>T	ENST00000338121.5	+	2	917	c.840G>T	c.(838-840)gaG>gaT	p.E280D	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.E280D|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	280					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)					CCAAAAATGAGGGTTGCCAGG	0.572																																					p.E280D													.	GZF1	61	0			c.G840T						.						59	67	64					20																	23345860		2203	4300	6503	SO:0001583	missense	64412	exon1			AAATGAGGGTTGC	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.840G>T	20.37:g.23345860G>T	ENSP00000338290:p.Glu280Asp	28	0		29	4	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	7.679	0.688558	0.14973	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.10668	2.85;2.85	4.0	1.96	0.26148	.	0.215491	0.30356	N	0.009804	T	0.08088	0.0202	L	0.34521	1.04	0.80722	D	1	B	0.21606	0.058	B	0.15052	0.012	T	0.18777	-1.0326	10	0.54805	T	0.06	.	8.3827	0.32481	0.0873:0.1558:0.7568:0.0	.	280	Q9H116	GZF1_HUMAN	D	280	ENSP00000338290:E280D;ENSP00000366250:E280D	ENSP00000338290:E280D	E	+	3	2	GZF1	23293860	0.501000	0.26099	0.046000	0.18839	0.071000	0.16799	1.862000	0.39448	0.443000	0.26582	0.552000	0.68991	GAG	.		0.572	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		T	23345860	G	T	23345860	3	4	2	1	0	0	0	0	1	0	0	0	6941	991	35	3	842	3	GZF1	20	23345860	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09		23345860	39679660	96	262											
ZNF831	128611	hgsc.bcm.edu;bcgsc.ca	37	20	57766888	57766888	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr20:57766888G>A	ENST00000371030.2	+	1	814	c.814G>A	c.(814-816)Gca>Aca	p.A272T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	272							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)					TCCAGGGTCCGCATTTGCCGA	0.642																																					p.A272T		.											.	.	.	0			c.G814A						.						55	64	61					20																	57766888		2031	4177	6208	SO:0001583	missense	128611	exon1			GGGTCCGCATTTG	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.814G>A	20.37:g.57766888G>A	ENSP00000360069:p.Ala272Thr	69	0		59	4	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.563300	0.00134	.	.	ENSG00000124203	ENST00000371030	T	0.03982	3.74	4.92	-5.13	0.02884	.	.	.	.	.	T	0.00998	0.0033	N	0.00347	-1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43261	-0.9402	9	0.02654	T	1	-1.7032	8.9178	0.35592	0.4454:0.1104:0.4442:0.0	.	272	Q5JPB2	ZN831_HUMAN	T	272	ENSP00000360069:A272T	ENSP00000360069:A272T	A	+	1	0	ZNF831	57200283	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.523000	0.06230	-1.374000	0.02131	-1.623000	0.00790	GCA	.		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57766888	G	A	57766888	3	1	2	1	0	0	0	0	1	0	0	0	18233	1087	38	1	816	1	ZNF831	20	57766888	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	34421028	57766888	5258632	97	263											
ATP5O	539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	35276306	35276306	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr21:35276306A>T	ENST00000290299.2	-	6	677	c.461T>A	c.(460-462)cTc>cAc	p.L154H	AP000304.12_ENST00000429238.1_Intron	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	154					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TAATTCAGAGAGTGTGGCTTC	0.383																																					p.L154H		.											.	.	.	0			c.T461A						.						96	92	94					21																	35276306		2203	4300	6503	SO:0001583	missense	539	exon6			TCAGAGAGTGTGG	AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	850	protein-coding gene	gene with protein product	"oligomycin sensitivity conferring protein"	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.461T>A	21.37:g.35276306A>T	ENSP00000290299:p.Leu154His	150	0		157	23	NM_001697	B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	ENST00000290299.2	37	CCDS13634.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981390	0.74474	.	.	ENSG00000241837	ENST00000290299	T	0.48201	0.82	5.68	5.68	0.88126	.	0.054842	0.85682	D	0.000000	T	0.75428	0.3848	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80432	-0.1385	10	0.46703	T	0.11	-16.3896	15.5825	0.76455	1.0:0.0:0.0:0.0	.	154	P48047	ATPO_HUMAN	H	154	ENSP00000290299:L154H	ENSP00000290299:L154H	L	-	2	0	ATP5O	34198176	1.000000	0.71417	0.087000	0.20705	0.881000	0.50899	7.831000	0.86748	2.156000	0.67533	0.459000	0.35465	CTC	.		0.383	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139907.1	NM_001697		T	35276306	A	T	35276306	3	4	2	1	0	0	0	0	1	0	0	0	1163	304	11	5	188	5	ATP5O	21	35276306	Missense_Mutation	SNP	A	TCGA-3X-AAVA-01A-11D-A417-09		35276306	12853589	98	264											
CHEK2	11200	hgsc.bcm.edu	37	22	29083913	29083913	+	Missense_Mutation	SNP	C	C	T	rs544216926	byFrequency	TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chr22:29083913C>T	ENST00000405598.1	-	16	1795	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.R535H|CHEK2_ENST00000382580.2_Missense_Mutation_p.R578H|CHEK2_ENST00000403642.1_Missense_Mutation_p.R444H|CHEK2_ENST00000328354.6_Missense_Mutation_p.R535H|CHEK2_ENST00000382565.1_Missense_Mutation_p.R155H|CHEK2_ENST00000382578.1_Missense_Mutation_p.R444H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R506H|CHEK2_ENST00000544772.1_Missense_Mutation_p.R314H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R506H			O96017	CHK2_HUMAN	checkpoint kinase 2	535					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						CACAGCTGGGCGCTTTGTGGT	0.458			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					C|||	2	0.000399361	0	0	5008	,	,		18131	0		0	False		,,,				2504	0.002				p.R578H		.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	CHEK2,NS,carcinoma,0,15	CHEK2	0	0			c.G1733A						.						42	44	44					22																	29083913		1368	2307	3675	SO:0001583	missense	11200	exon16			GCTGGGCGCTTTG	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.1604G>A	22.37:g.29083913C>T	ENSP00000386087:p.Arg535His	69	1		38	3	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|C	19.39|19.39	3.819005|3.819005	0.71028|0.71028	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810;ENST00000456369|ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|T;T;T;T;T;T;T;T;T;T	.|0.68331	.|0.76;-0.26;-0.32;-0.26;-0.27;-0.27;-0.27;-0.23;-0.26;0.76	4.76|4.76	2.63|2.63	0.31362|0.31362	.|.	.|0.439613	.|0.22360	.|N	.|0.061096	T|T	0.64349|0.64349	0.2590|0.2590	N|N	0.24115|0.24115	0.695|0.695	0.20926|0.20926	N|N	0.999824|0.999824	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.958;0.999;0.999;0.99;0.998	.|D;B;P;P;P;P	.|0.63703	.|0.917;0.431;0.826;0.897;0.469;0.78	T|T	0.52646|0.52646	-0.8548|-0.8548	5|10	.|0.48119	.|T	.|0.1	-4.4609|-4.4609	7.9154|7.9154	0.29814|0.29814	0.0:0.798:0.0:0.202|0.0:0.798:0.0:0.202	.|.	.|444;314;535;506;535;578	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.|.;.;.;.;CHK2_HUMAN;.	T|H	268;136|506;444;155;218;314;535;535;535;578;444;506	.|ENSP00000329012:R506H;ENSP00000372021:R444H;ENSP00000372006:R155H;ENSP00000442458:R314H;ENSP00000329178:R535H;ENSP00000385747:R535H;ENSP00000386087:R535H;ENSP00000372023:R578H;ENSP00000384919:R444H;ENSP00000384835:R506H	.|ENSP00000329178:R535H	A|R	-|-	1|2	0|0	CHEK2|CHEK2	27413913|27413913	0.360000|0.360000	0.24964|0.24964	0.833000|0.833000	0.33012|0.33012	0.169000|0.169000	0.22640|0.22640	0.471000|0.471000	0.22100|0.22100	1.136000|1.136000	0.42199|0.42199	0.557000|0.557000	0.71058|0.71058	GCC|CGC	.		0.458	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		T	29083913	C	T	29083913	3	4	2	1	0	0	0	0	1	0	0	0	3342	768	27	1	31	1	CHEK2	22	29083913	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09		29083913	22220653	99	265											
MAGEB10	139422	broad.mit.edu	37	X	27840135	27840135	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chrX:27840135C>T	ENST00000356790.2	+	3	957	c.712C>T	c.(712-714)Cac>Tac	p.H238Y		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.H238N(1)		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						CGGAATTGAGCACTTCATGTT	0.463																																					p.H238Y													.	MAGEB10	107	1	Substitution - Missense(1)	kidney(1)	c.C712T						.						54	49	50					X																	27840135		2202	4300	6502	SO:0001583	missense	139422	exon3			ATTGAGCACTTCA		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.712C>T	X.37:g.27840135C>T	ENSP00000368304:p.His238Tyr	42	0		33	6	NM_182506	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034899	0.35893	.	.	ENSG00000177689	ENST00000356790	T	0.05925	3.37	2.33	1.44	0.22558	.	0.000000	0.85682	U	0.000000	T	0.13243	0.0321	M	0.89095	3.005	0.09310	N	1	D	0.52996	0.957	P	0.46659	0.523	T	0.12142	-1.0559	10	0.87932	D	0	.	5.6025	0.17361	0.3225:0.6775:0.0:0.0	.	238	Q96LZ2	MAGBA_HUMAN	Y	238	ENSP00000368304:H238Y	ENSP00000368304:H238Y	H	+	1	0	MAGEB10	27750056	0.053000	0.20554	0.006000	0.13384	0.037000	0.13140	0.994000	0.29693	0.391000	0.25143	0.422000	0.28245	CAC	.		0.463	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		T	27840135	C	T	27840135	3	4	2	1	0	0	0	0	1	0	0	0	9211	710	25	3	714	3	MAGEB10	23	27840135	Missense_Mutation	SNP	C	TCGA-3X-AAVA-01A-11D-A417-09		27840135	127430425	100	266											
VSIG1	340547	ucsc.edu;bcgsc.ca	37	X	107319375	107319375	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chrX:107319375G>T	ENST00000217957.5	+	6	874	c.757G>T	c.(757-759)Gtt>Ttt	p.V253F	VSIG1_ENST00000415430.3_Missense_Mutation_p.V289F	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	253						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CATCATCTCTGTTGTGTGCTT	0.433																																					p.V289F													.	VSIG1	126	0			c.G865T						.						188	162	171					X																	107319375		2203	4300	6503	SO:0001583	missense	340547	exon7			ATCTCTGTTGTGT	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.757G>T	X.37:g.107319375G>T	ENSP00000217957:p.Val253Phe	50	0		35	4	NM_001170553	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729295	0.30684	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.77489	-1.1;-0.87	4.91	0.91	0.19337	.	1.231730	0.05971	N	0.642419	T	0.74481	0.3722	L	0.56769	1.78	0.09310	N	1	P;P	0.51653	0.947;0.933	P;P	0.48141	0.568;0.564	T	0.58289	-0.7662	10	0.09084	T	0.74	.	6.231	0.20734	0.5904:0.0:0.4096:0.0	.	289;253	C9J4P2;Q86XK7	.;VSIG1_HUMAN	F	289;253	ENSP00000402219:V289F;ENSP00000217957:V253F	ENSP00000217957:V253F	V	+	1	0	VSIG1	107206031	0.042000	0.20092	0.001000	0.08648	0.243000	0.25628	0.420000	0.21263	0.156000	0.19299	-0.192000	0.12808	GTT	.		0.433	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		T	107319375	G	T	107319375	3	4	2	1	0	0	0	0	1	0	0	0	17271	1377	48	3	891	3	VSIG1	23	107319375	Missense_Mutation	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	79479240	107319375	47951185	101	267											
F8	2157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	154194709	154194709	+	Silent	SNP	G	G	A	rs145623784		TCGA-3X-AAVA-01A-11D-A417-09	TCGA-3X-AAVA-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d1d86aa-d72b-441f-9db7-c8abdba61a42	db714f8e-6bbe-4713-a252-2f38ae5c7d6a	g.chrX:154194709G>A	ENST00000360256.4	-	8	1463	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	421	F5/8 type A 2.|Plastocyanin-like 3.				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.P421P(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)	ACCTGTCATCGGGGGCGAGGA	0.443																																					p.P421P		.											.	.	.	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)	c.C1263T						.	G		0,3835		0,0,1632,571	92	71	79		1263	0.5	0	X	dbSNP_134	79	2,6726		0,2,2426,1872	no	coding-synonymous	F8	NM_000132.3		0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189		421/2352	154194709	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2157	exon8			GTCATCGGGGGCG	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.1263C>T	X.37:g.154194709G>A		76	0		24	4	NM_000132	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																			0.000		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154194709	G	A	154194709	2	1	2	1	0	0	0	0	0	0	0	1	5366	1103	39	1		1	F8	23	154194709	Silent	SNP	G	TCGA-3X-AAVA-01A-11D-A417-09	46875334	154194709	1075851	102	268											
ATAD3A	55210	hgsc.bcm.edu;broad.mit.edu	37	1	1458913	1458913	+	Missense_Mutation	SNP	G	G	A	rs551101347		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:1458913G>A	ENST00000378755.5	+	9	1167	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	ATAD3A_ENST00000378756.3_Missense_Mutation_p.R310Q|ATAD3A_ENST00000536055.1_Missense_Mutation_p.R231Q	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	358					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)		CTCCTCAGTCGACCCCAGGAC	0.701													g|||	1	0.000199681	8e-04	0	5008	,	,		12006	0		0	False		,,,				2504	0				p.R358Q		.											.	.	.	0			c.G1073A						.						47	46	46					1																	1458913		2203	4300	6503	SO:0001583	missense	55210	exon9			TCAGTCGACCCCA	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.1073G>A	1.37:g.1458913G>A	ENSP00000368030:p.Arg358Gln	95	0		55	4	NM_018188	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	CCDS31.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762310	0.31228	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055	D;D;D	0.94417	-3.15;-3.04;-3.42	4.8	3.74	0.42951	.	0.150598	0.64402	D	0.000017	D	0.84234	0.5427	N	0.21373	0.66	0.27335	N	0.956672	B;P	0.43231	0.308;0.801	B;B	0.26614	0.07;0.071	T	0.78089	-0.2340	10	0.41790	T	0.15	.	5.4224	0.16407	0.8366:0.0:0.1634:0.0	.	310;358	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	Q	310;358;231	ENSP00000368031:R310Q;ENSP00000368030:R358Q;ENSP00000439290:R231Q	ENSP00000368030:R358Q	R	+	2	0	ATAD3A	1448776	1.000000	0.71417	0.525000	0.27900	0.055000	0.15305	3.381000	0.52455	0.817000	0.34445	0.556000	0.70494	CGA	.		0.701	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		A	1458913	G	A	1458913	3	1	3	1	0	0	0	0	1	0	0	0	1074	1058	37	1	1107	1	ATAD3A	1	1458913	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		1458913	247791708	1	269											
DNAJC11	55735	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	6713011	6713011	+	Splice_Site	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:6713011C>T	ENST00000377577.5	-	6	631	c.508G>A	c.(508-510)Gca>Aca	p.A170T	DNAJC11_ENST00000294401.7_Splice_Site_p.A170T|DNAJC11_ENST00000349363.6_Splice_Site_p.A132T|DNAJC11_ENST00000377573.5_Splice_Site_p.A80T|DNAJC11_ENST00000542246.1_Splice_Site_p.A132T	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	170						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)		GTCAAGGGTGCCTAAAAATGG	0.488																																					p.A170T		.											.	.	.	0			c.G508A						.						99	91	94					1																	6713011		2203	4300	6503	SO:0001630	splice_region_variant	55735	exon6			AGGGTGCCTAAAA	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.508-1G>A	1.37:g.6713011C>T		58	0		34	4	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371958	0.95923	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.31510	2.52;1.89;1.49;2.53;2.27;1.92;2.54	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.61703	1.905	0.80722	D	1	D;B;P;P	0.71674	0.998;0.264;0.702;0.812	P;B;B;B	0.61940	0.896;0.074;0.421;0.343	T	0.25745	-1.0123	10	0.18710	T	0.47	-24.4276	18.7482	0.91802	0.0:1.0:0.0:0.0	.	80;146;170;170	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	T	170;146;132;170;132;80;170	ENSP00000366800:A170T;ENSP00000415871:A146T;ENSP00000326304:A132T;ENSP00000294401:A170T;ENSP00000444020:A132T;ENSP00000366796:A80T;ENSP00000410194:A170T	ENSP00000294401:A170T	A	-	1	0	DNAJC11	6635598	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.416000	0.80143	2.666000	0.90696	0.655000	0.94253	GCA	.		0.488	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	Missense_Mutation	T	6713011	C	T	6713011	5	4	3	1	0	0	0	0	0	0	1	0	4644	753	26	3	1215	3	DNAJC11	1	6713011	Splice_Site	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	5254098	6713011	242537610	2	270											
ZMPSTE24	10269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	40724003	40724003	+	Silent	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:40724003C>T	ENST00000372759.3	+	1	225	c.60C>T	c.(58-60)ttC>ttT	p.F20F	ZMPSTE24_ENST00000479131.1_3'UTR|RP1-39G22.7_ENST00000567508.1_RNA	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	20					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)			AGCGTATCTTCGGGGCCGTGC	0.632																																					p.F20F		.											.	.	.	0			c.C60T						.						123	107	112					1																	40724003		2203	4300	6503	SO:0001819	synonymous_variant	10269	exon1			TATCTTCGGGGCC	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.60C>T	1.37:g.40724003C>T		26	0		32	5	NM_005857	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	ENST00000372759.3	37	CCDS449.1																																																																																			.		0.632	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			T	40724003	C	T	40724003	2	4	3	1	0	0	0	0	0	0	0	1	17746	883	31	1		1	ZMPSTE24	1	40724003	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	34010992	40724003	208526618	3	271											
PLK3	1263	broad.mit.edu	37	1	45266806	45266806	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:45266806G>T	ENST00000372201.4	+	3	656	c.417G>T	c.(415-417)ttG>ttT	p.L139F	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					ACATTTTCTTGGAGCTCTGCA	0.458																																					p.L139F													.	PLK3	41	0			c.G417T						.						65	62	63					1																	45266806		2203	4300	6503	SO:0001583	missense	1263	exon3			TTTCTTGGAGCTC	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.417G>T	1.37:g.45266806G>T	ENSP00000361275:p.Leu139Phe	48	0		25	3	NM_004073	Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	CCDS515.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.167095	0.78339	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.26067	1.76	4.86	4.86	0.63082	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	0.46814	0.1412	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46076	-0.9217	9	0.87932	D	0	-4.0659	12.1679	0.54141	0.0:0.0:0.8293:0.1706	.	139	Q9H4B4	PLK3_HUMAN	F	139;114	ENSP00000361275:L139F	ENSP00000361275:L139F	L	+	3	2	PLK3	45039393	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.537000	0.45702	2.270000	0.75569	0.550000	0.68814	TTG	.		0.458	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		T	45266806	G	T	45266806	3	4	3	1	0	0	0	0	1	0	0	0	12136	1339	47	3	427	3	PLK3	1	45266806	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	4542803	45266806	203983815	4	272											
MIER1	57708	hgsc.bcm.edu	37	1	67411833	67411833	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:67411833G>T	ENST00000355356.3	+	3	184	c.35G>T	c.(34-36)gGa>gTa	p.G12V	MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371016.1_Splice_Site_p.G29V|MIER1_ENST00000357692.2_Splice_Site_p.G29V|MIER1_ENST00000371012.2_Splice_Site_p.G29V|MIER1_ENST00000401042.3_Splice_Site_p.G12V|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Splice_Site_p.G29V|MIER1_ENST00000371014.1_Splice_Site_p.G65V|MIER1_ENST00000401041.1_Splice_Site_p.G65V	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	12					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.?(2)|p.G12V(1)|p.G65V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCCTTACCAGGAGGTTCAGCA	0.323																																					p.G65V		.											MIER1_ENST00000401041,bladder,carcinoma,0,2	MIER1_ENST00000401041	0	4	Substitution - Missense(2)|Unknown(2)	urinary_tract(4)	c.G194T						.						95	85	88					1																	67411833		1827	4080	5907	SO:0001630	splice_region_variant	57708	exon4			TACCAGGAGGTTC		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.35-1G>T	1.37:g.67411833G>T		133	0		62	3	NM_001077700	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178373	0.57692	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000371012;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.24	5.24	0.73138	.	0.326738	0.32015	N	0.006701	T	0.19208	0.0461	N	0.11154	0.105	0.80722	D	1	B;D;D;D;D;B;P	0.89917	0.349;1.0;0.999;1.0;0.999;0.184;0.473	B;D;D;D;D;B;B	0.87578	0.056;0.973;0.998;0.998;0.982;0.061;0.056	T	0.23440	-1.0188	9	.	.	.	.	19.2207	0.93795	0.0:0.0:1.0:0.0	.	29;29;12;12;29;65;65	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;.;.	V	33;29;29;65;29;65;29;12;12	ENSP00000360057:G29V;ENSP00000350321:G29V;ENSP00000383820:G65V;ENSP00000360055:G29V;ENSP00000360053:G65V;ENSP00000360051:G29V;ENSP00000383821:G12V;ENSP00000347514:G12V	.	G	+	2	0	MIER1	67184421	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.043000	0.71004	2.621000	0.88768	0.655000	0.94253	GGA	.		0.323	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948	Missense_Mutation	T	67411833	G	T	67411833	5	4	3	1	0	0	0	0	0	0	1	0	9618	1188	41	3	285	3	MIER1	1	67411833	Splice_Site	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	22145027	67411833	181838788	5	273											
HFM1	164045	hgsc.bcm.edu	37	1	91784927	91784927	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:91784927C>A	ENST00000370425.3	-	24	2701	c.2603G>T	c.(2602-2604)gGa>gTa	p.G868V	HFM1_ENST00000370424.3_Missense_Mutation_p.G547V|HFM1_ENST00000294696.5_Missense_Mutation_p.G100V|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	868	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGGAATGCATCCTAGTTGAGC	0.373																																					p.G868V		.											HFM1,NS,carcinoma,0,1	HFM1	0	0			c.G2603T						.						102	98	100					1																	91784927		2203	4300	6503	SO:0001583	missense	164045	exon24			ATGCATCCTAGTT	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2603G>T	1.37:g.91784927C>A	ENSP00000359454:p.Gly868Val	133	0		69	3	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.626797|4.626797	0.87560|0.87560	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.61158	.|0.13;0.13;0.13	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Sec63 domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77811|0.77811	0.4186|0.4186	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.999;0.998	T|T	0.82596|0.82596	-0.0379|-0.0379	5|10	.|0.87932	.|D	.|0	.|.	18.6527|18.6527	0.91437|0.91437	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|547;123;868	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Y|V	124|868;100;547;552	.|ENSP00000359454:G868V;ENSP00000294696:G100V;ENSP00000359453:G547V	.|ENSP00000294696:G100V	D|G	-|-	1|2	0|0	HFM1|HFM1	91557515|91557515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.776000|7.776000	0.85560|0.85560	2.467000|2.467000	0.83353|0.83353	0.650000|0.650000	0.86243|0.86243	GAT|GGA	.		0.373	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		A	91784927	C	A	91784927	3	1	3	1	0	0	0	0	1	0	0	0	7110	855	30	3	1768	3	HFM1	1	91784927	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	24373094	91784927	157465694	6	274											
ANKRD34A	284615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	145473924	145473924	+	Missense_Mutation	SNP	T	T	G			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:145473924T>G	ENST00000323397.4	+	4	1889	c.596T>G	c.(595-597)aTg>aGg	p.M199R	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	199						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGCGTGGGATGTTATCCCCT	0.642																																					p.M199R		.											.	.	.	0			c.T596G						.						64	69	67					1																	145473924		2203	4300	6503	SO:0001583	missense	284615	exon4			GTGGGATGTTATC	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.596T>G	1.37:g.145473924T>G	ENSP00000314103:p.Met199Arg	50	0		28	7	NM_001039888	B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	T	6.321	0.427378	0.11987	.	.	ENSG00000181039	ENST00000323397	T	0.71461	-0.57	5.23	4.11	0.48088	.	1.163710	0.06704	N	0.771999	T	0.28001	0.0690	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.25572	-1.0128	10	0.23302	T	0.38	-0.3877	7.6776	0.28494	0.0:0.0936:0.0:0.9064	.	199	Q69YU3	AN34A_HUMAN	R	199	ENSP00000314103:M199R	ENSP00000314103:M199R	M	+	2	0	ANKRD34A	144185281	0.003000	0.15002	0.737000	0.30932	0.980000	0.70556	1.230000	0.32612	1.015000	0.39444	0.477000	0.44152	ATG	.		0.642	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			G	145473924	T	G	145473924	3	3	3	1	0	0	0	0	1	0	0	0	662	1464	51	4	598	4	ANKRD34A	1	145473924	Missense_Mutation	SNP	T	TCGA-3X-AAVB-01A-31D-A417-09	53688997	145473924	103776697	7	275											
FLG	2312	hgsc.bcm.edu;bcgsc.ca	37	1	152281163	152281163	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:152281163G>A	ENST00000368799.1	-	3	6234	c.6199C>T	c.(6199-6201)Ccc>Tcc	p.P2067S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2067	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)			TGCTGATGGGGCCCAGCTTTT	0.562									Ichthyosis																												p.P2067S		.											FLG,NS,carcinoma,0,1	FLG	0	0			c.C6199T						.						364	295	319					1																	152281163		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GATGGGGCCCAGC	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.6199C>T	1.37:g.152281163G>A	ENSP00000357789:p.Pro2067Ser	121	0		67	4	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	3.522	-0.097502	0.07010	.	.	ENSG00000143631	ENST00000368799	T	0.00986	5.47	2.13	-4.26	0.03755	.	.	.	.	.	T	0.00144	0.0004	N	0.05383	-0.06	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40720	-0.9548	9	0.02654	T	1	.	4.3265	0.11043	0.2738:0.2934:0.4328:0.0	.	2067	P20930	FILA_HUMAN	S	2067	ENSP00000357789:P2067S	ENSP00000357789:P2067S	P	-	1	0	FLG	150547787	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.961000	0.03845	-1.282000	0.02396	0.485000	0.47835	CCC	.		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152281163	G	A	152281163	3	1	3	1	0	0	0	0	1	0	0	0	5944	1203	42	3	5990	3	FLG	1	152281163	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	6807239	152281163	96969458	8	276											
CKS1B	1163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	154950570	154950570	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:154950570A>T	ENST00000308987.5	+	2	214	c.167A>T	c.(166-168)cAt>cTt	p.H56L	CKS1B_ENST00000368436.1_Missense_Mutation_p.H56L|CKS1B_ENST00000471245.1_3'UTR|MIR4258_ENST00000580920.1_RNA|CKS1B_ENST00000368439.1_Missense_Mutation_p.H40L	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	56					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-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)			GGATGGGTCCATTATATGATC	0.438																																					p.H56L		.											.	.	.	0			c.A167T						.						51	46	47					1																	154950570		2203	4300	6503	SO:0001583	missense	1163	exon2			GGGTCCATTATAT	BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"CDC28 protein kinase 1B"			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.167A>T	1.37:g.154950570A>T	ENSP00000311083:p.His56Leu	148	0		73	15	NM_001826	P33551	Missense_Mutation	SNP	ENST00000308987.5	37	CCDS1077.1	.	.	.	.	.	.	.	.	.	.	A	35	5.433974	0.96150	.	.	ENSG00000173207	ENST00000368439;ENST00000368436;ENST00000308987	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.66351	0.943	T	0.78529	-0.2169	8	0.87932	D	0	.	15.8048	0.78491	1.0:0.0:0.0:0.0	.	56	P61024	CKS1_HUMAN	L	40;56;56	.	ENSP00000311083:H56L	H	+	2	0	CKS1B	153217194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.755000	0.91646	2.371000	0.80710	0.533000	0.62120	CAT	.		0.438	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091078.1	NM_001826		T	154950570	A	T	154950570	3	4	3	1	0	0	0	0	1	0	0	0	3459	217	8	5	173	5	CKS1B	1	154950570	Missense_Mutation	SNP	A	TCGA-3X-AAVB-01A-31D-A417-09	2669407	154950570	94300051	9	277											
HSD17B7	51478	hgsc.bcm.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	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		.											HSD17B7,NS,carcinoma,0,5	HSD17B7	0	4	Substitution - Missense(4)	kidney(2)|endometrium(2)	c.G518A						.						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	72	0		25	2	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	.		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		A	162769603	G	A	162769603	3	1	3	1	0	0	0	0	1	0	0	0	7415	1029	36	3	536	3	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	7819033	162769603	86481018	10	278											
SELP	6403	hgsc.bcm.edu	37	1	169564103	169564103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:169564103G>T	ENST00000263686.6	-	13	2151	c.2114C>A	c.(2113-2115)tCa>tAa	p.S705*	SELP_ENST00000367793.2_Nonsense_Mutation_p.S643*|SELP_ENST00000367786.2_Nonsense_Mutation_p.S643*|SELP_ENST00000367791.2_Nonsense_Mutation_p.S519*|SELP_ENST00000367794.2_Nonsense_Mutation_p.S643*|SELP_ENST00000367792.2_Nonsense_Mutation_p.S521*|SELP_ENST00000367788.2_Nonsense_Mutation_p.S643*|SELP_ENST00000458599.2_Nonsense_Mutation_p.S521*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	705	Sushi 9. {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)	p.S705*(1)		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)	ATGTAGTTCTGAGCATTTCAC	0.398																																					p.S705X		.											SELP,NS,carcinoma,0,1	SELP	0	1	Substitution - Nonsense(1)	lung(1)	c.C2114A						.						103	93	97					1																	169564103		2203	4300	6503	SO:0001587	stop_gained	6403	exon13			AGTTCTGAGCATT	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.2114C>A	1.37:g.169564103G>T	ENSP00000263686:p.Ser705*	107	0		35	2	NM_003005	Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	36	5.602469	0.96614	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.	.	.	5.22	3.35	0.38373	.	1.070140	0.07273	N	0.869436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.0435	8.7049	0.34349	0.1781:0.0:0.8219:0.0	.	.	.	.	X	519;705;704;521;705;705;643;643;521;519;643;643;628	.	ENSP00000263686:S705X	S	-	2	0	SELP	167830727	0.227000	0.23707	0.001000	0.08648	0.130000	0.20726	1.714000	0.37961	0.699000	0.31761	-0.222000	0.12452	TCA	.		0.398	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169564103	G	T	169564103	4	4	3	1	0	0	0	0	0	1	0	0	14064	1294	45	3	394	3	SELP	1	169564103	Nonsense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	6794500	169564103	79686518	11	279											
ZP4	57829	hgsc.bcm.edu;broad.mit.edu	37	1	238048735	238048735	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:238048735G>T	ENST00000366570.4	-	8	1274	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	372	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)			GGGGGTCAGTGCTGGGTGTTG	0.532																																					p.S372R	NSCLC(166;160 2029 11600 18754 19936)	.											ZP4,right_lower_lobe,carcinoma,0,1	ZP4	0	0			c.C1116A						.						66	69	68					1																	238048735		2203	4300	6503	SO:0001583	missense	57829	exon8			GTCAGTGCTGGGT	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.1116C>A	1.37:g.238048735G>T	ENSP00000355529:p.Ser372Arg	68	0		42	3	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	6.959	0.546929	0.13312	.	.	ENSG00000116996	ENST00000366570	D	0.83419	-1.72	4.98	0.304	0.15796	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	1.033030	0.07654	N	0.932404	T	0.81931	0.4927	L	0.61218	1.895	0.09310	N	1	B	0.24675	0.109	B	0.37387	0.248	T	0.71965	-0.4433	10	0.59425	D	0.04	-2.4395	4.9862	0.14190	0.378:0.1713:0.4507:0.0	.	372	Q12836	ZP4_HUMAN	R	372	ENSP00000355529:S372R	ENSP00000355529:S372R	S	-	3	2	ZP4	236115358	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.150000	0.10189	0.148000	0.19059	0.655000	0.94253	AGC	.		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			T	238048735	G	T	238048735	3	4	3	1	0	0	0	0	1	0	0	0	18266	1310	46	3	526	3	ZP4	1	238048735	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	68484632	238048735	11201886	12	280											
OR2L8	391190	hgsc.bcm.edu	37	1	248112794	248112794	+	Missense_Mutation	SNP	G	G	C	rs200574966		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr1:248112794G>C	ENST00000357191.3	+	1	635	c.635G>C	c.(634-636)gGt>gCt	p.G212A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G212A(2)		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)			CCCTTCATTGGTATTTCATGT	0.498																																					p.G212A		.											OR2L8,NS,carcinoma,0,2	OR2L8	0	2	Substitution - Missense(2)	prostate(1)|skin(1)	c.G635C						.						176	87	117					1																	248112794		2203	4300	6503	SO:0001583	missense	391190	exon1			TCATTGGTATTTC	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.635G>C	1.37:g.248112794G>C	ENSP00000349719:p.Gly212Ala	90	1		42	2	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.747988	0.00669	.	.	ENSG00000196936	ENST00000357191	T	0.35973	1.28	1.8	-3.61	0.04556	GPCR, rhodopsin-like superfamily (1);	0.592578	0.12695	U	0.446818	T	0.14657	0.0354	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.11817	-1.0572	10	0.46703	T	0.11	.	5.6462	0.17590	0.0:0.2703:0.1902:0.5394	.	212	Q8NGY9	OR2L8_HUMAN	A	212	ENSP00000349719:G212A	ENSP00000349719:G212A	G	+	2	0	OR2L8	246179417	0.000000	0.05858	0.006000	0.13384	0.165000	0.22458	-1.473000	0.02339	-1.273000	0.02424	-0.515000	0.04445	GGT	.		0.498	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			C	248112794	G	C	248112794	3	2	3	1	0	0	0	0	1	0	0	0	11048	1261	44	5	637	5	OR2L8	1	248112794	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	10064059	248112794	1137827	13	281											
SNRNP200	23020	bcgsc.ca	37	2	96962808	96962808	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr2:96962808G>T	ENST00000323853.5	-	12	1455	c.1378C>A	c.(1378-1380)Caa>Aaa	p.Q460K	SNRNP200_ENST00000349783.5_Splice_Site_p.Q460K	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	460					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGAAGCAGTTGCTAGAAGAAA	0.478																																					p.Q460K													.	SNRNP200	195	0			c.C1378A						.						55	57	56					2																	96962808		2203	4300	6503	SO:0001630	splice_region_variant	23020	exon12			GCAGTTGCTAGAA	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1378-1C>A	2.37:g.96962808G>T		34	0		21	3	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	4.619	0.115112	0.08831	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.35789	1.29;1.29	5.74	5.74	0.90152	.	0.178529	0.51477	D	0.000099	T	0.10551	0.0258	N	0.00263	-1.745	0.48571	D	0.999677	B	0.02656	0.0	B	0.01281	0.0	T	0.41215	-0.9521	10	0.02654	T	1	-8.9925	18.6945	0.91596	0.0:0.0:1.0:0.0	.	460	O75643	U520_HUMAN	K	460;460;135	ENSP00000317123:Q460K;ENSP00000326937:Q460K	ENSP00000317123:Q460K	Q	-	1	0	SNRNP200	96326535	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.919000	0.63383	2.717000	0.92951	0.655000	0.94253	CAA	.		0.478	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	Missense_Mutation	T	96962808	G	T	96962808	5	4	3	1	0	0	0	0	0	0	1	0	14897	1333	46	3	5168	3	SNRNP200	2	96962808	Splice_Site	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		96962808	146236565	14	282											
ITGA6	3655	hgsc.bcm.edu	37	2	173349546	173349546	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr2:173349546G>T	ENST00000264106.6	+	13	1906	c.1703G>T	c.(1702-1704)aGa>aTa	p.R568I	ITGA6_ENST00000375221.2_Missense_Mutation_p.R568I|ITGA6_ENST00000409532.1_Missense_Mutation_p.R410I|ITGA6_ENST00000343713.4_Missense_Mutation_p.R524I|ITGA6_ENST00000409080.1_Missense_Mutation_p.R529I|ITGA6_ENST00000264107.7_Missense_Mutation_p.R529I|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	568					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)			AAAGAAAGAAGAAAATCTGGG	0.388																																					p.R529I		.											ITGA6_ENST00000409080,NS,carcinoma,0,2	ITGA6_ENST00000409080	0	0			c.G1586T						.						59	61	60					2																	173349546		2203	4300	6503	SO:0001583	missense	3655	exon12			AAAGAAGAAAATC		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.1703G>T	2.37:g.173349546G>T	ENSP00000264106:p.Arg568Ile	102	0		39	2	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	G	34	5.299053	0.95574	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.87456	2.885	0.80722	D	1	P;D;D;D	0.89917	0.732;1.0;0.996;0.998	P;D;D;D	0.80764	0.458;0.994;0.972;0.981	T	0.78003	-0.2374	10	0.87932	D	0	.	17.7714	0.88494	0.0:0.0:1.0:0.0	.	524;568;529;529	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	I	410;529;568;568;524;529;568;524	ENSP00000386614:R410I;ENSP00000264107:R529I;ENSP00000264106:R568I;ENSP00000364369:R568I;ENSP00000341078:R524I;ENSP00000386896:R529I;ENSP00000406694:R568I;ENSP00000394169:R524I	ENSP00000264106:R568I	R	+	2	0	ITGA6	173057792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.554000	0.82212	2.724000	0.93272	0.561000	0.74099	AGA	.		0.388	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				T	173349546	G	T	173349546	3	4	3	1	0	0	0	0	1	0	0	0	7907	942	33	3	1632	3	ITGA6	2	173349546	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	76386738	173349546	69849827	15	283											
NMUR1	10316	bcgsc.ca	37	2	232393062	232393062	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr2:232393062G>T	ENST00000305141.4	-	2	803	c.670C>A	c.(670-672)Cca>Aca	p.P224T		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	224					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)		AGGGCCCGTGGGCGGACCAGC	0.652																																					p.P224T													.	NMUR1	46	0			c.C670A						.						38	37	38					2																	232393062		2203	4300	6503	SO:0001583	missense	10316	exon2			CCCGTGGGCGGAC	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.670C>A	2.37:g.232393062G>T	ENSP00000305877:p.Pro224Thr	34	0		12	3	NM_006056	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	.	12.97	2.098360	0.37048	.	.	ENSG00000171596	ENST00000305141	T	0.36699	1.24	5.08	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.288644	0.39274	N	0.001404	T	0.57740	0.2074	M	0.85099	2.735	0.24712	N	0.99319	D	0.63046	0.992	D	0.70487	0.969	T	0.51601	-0.8685	10	0.66056	D	0.02	-16.2871	8.977	0.35941	0.3063:0.0:0.6937:0.0	.	224	Q9HB89	NMUR1_HUMAN	T	224	ENSP00000305877:P224T	ENSP00000305877:P224T	P	-	1	0	NMUR1	232101306	1.000000	0.71417	0.000000	0.03702	0.452000	0.32318	2.894000	0.48640	-0.042000	0.13535	0.456000	0.33151	CCA	.		0.652	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		T	232393062	G	T	232393062	3	4	3	1	0	0	0	0	1	0	0	0	10545	1232	43	3	618	3	NMUR1	2	232393062	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	59043516	232393062	10806311	16	284											
COPS7B	64708	bcgsc.ca	37	2	232653436	232653436	+	Silent	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr2:232653436G>T	ENST00000350033.3	+	2	297	c.156G>T	c.(154-156)gtG>gtT	p.V52V	COPS7B_ENST00000410017.1_Silent_p.V52V|COPS7B_ENST00000373608.3_Silent_p.V52V|COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410024.1_Silent_p.V52V|COPS7B_ENST00000409295.1_Intron	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	52	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGGCCAACGTGCAGGAGGTAA	0.468																																					p.V52V													.	COPS7B	14	0			c.G156T						.						70	72	71					2																	232653436		2203	4300	6503	SO:0001819	synonymous_variant	64708	exon2			CAACGTGCAGGAG	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B", "COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.156G>T	2.37:g.232653436G>T		107	0		64	4	NM_022730	Q53S22|Q5BJG3|Q9H7V6	Silent	SNP	ENST00000350033.3	37	CCDS2488.1																																																																																			.		0.468	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		T	232653436	G	T	232653436	2	4	3	1	0	0	0	0	0	0	0	1	3746	1306	46	3		3	COPS7B	2	232653436	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	260374	232653436	10545937	17	285											
CPNE9	151835	broad.mit.edu;bcgsc.ca	37	3	9746275	9746275	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr3:9746275C>G	ENST00000383832.3	+	2	263	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	CPNE9_ENST00000383831.3_Missense_Mutation_p.L25V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	25	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTCTAGGAACCTGCTAGACCT	0.642																																					.													.	CPNE9	45	0			.						.						115	111	112					3																	9746275		1906	4105	6011	SO:0001583	missense	151835	.			AGGAACCTGCTAG		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.73C>G	3.37:g.9746275C>G	ENSP00000373343:p.Leu25Val	49	0		19	8	.	A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816413	0.90790	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.71461	-0.57;-0.57	4.84	4.84	0.62591	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.095311	0.44902	D	0.000420	D	0.89420	0.6710	H	0.98507	4.25	0.49483	D	0.999797	D	0.64830	0.994	D	0.64595	0.927	D	0.93345	0.6713	10	0.87932	D	0	.	14.6789	0.69001	0.0:1.0:0.0:0.0	.	25	Q8IYJ1	CPNE9_HUMAN	V	25	ENSP00000373343:L25V;ENSP00000373342:L25V	ENSP00000373342:L25V	L	+	1	2	CPNE9	9721275	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.684000	0.54671	2.233000	0.73108	0.455000	0.32223	CTG	.		0.642	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		G	9746275	C	G	9746275	3	3	3	1	0	0	0	0	1	0	0	0	3826	680	24	5	79	5	CPNE9	3	9746275	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		9746275	188276155	18	286											
FLNB	2317	ucsc.edu	37	3	58090844	58090844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr3:58090844C>T	ENST00000295956.4	+	11	1813	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*	FLNB_ENST00000419752.2_Nonsense_Mutation_p.Q381*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.Q550*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.Q550*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.Q550*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.Q550*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.Q550*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.Q381*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	550					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)		AGCGGGTATGCAGAAAGTCCG	0.527																																					p.Q550X													.	FLNB	430	0			c.C1648T						.						126	125	125					3																	58090844		2203	4300	6503	SO:0001587	stop_gained	2317	exon11			GGTATGCAGAAAG	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.1648C>T	3.37:g.58090844C>T	ENSP00000295956:p.Gln550*	70	0		40	4	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	42	9.245549	0.99113	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	550;550;550;550;550;550;381;381	.	ENSP00000295956:Q550X	Q	+	1	0	FLNB	58065884	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CAG	.		0.527	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		T	58090844	C	T	58090844	4	4	3	1	0	0	0	0	0	1	0	0	5956	711	25	3	1690	3	FLNB	3	58090844	Nonsense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	48344569	58090844	139931586	19	287											
CADPS	8618	hgsc.bcm.edu	37	3	62477973	62477973	+	Missense_Mutation	SNP	C	C	T	rs376315928		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr3:62477973C>T	ENST00000383710.4	-	20	3225	c.2876G>A	c.(2875-2877)cGt>cAt	p.R959H	CADPS_ENST00000357948.3_Missense_Mutation_p.R929H|CADPS_ENST00000283269.9_Missense_Mutation_p.R969H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	959	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)		ACAGTCAGTACGGAGAAAATC	0.428																																					p.R969H		.											CADPS_ENST00000383710,NS,carcinoma,0,2	CADPS_ENST00000383710	0	0			c.G2906A						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	217	208	211		2876,2786,2906	6.2	1	3		211	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	959/1354,929/1275,969/1315	62477973	2,13004	2203	4300	6503	SO:0001583	missense	8618	exon19			TCAGTACGGAGAA	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.2876G>A	3.37:g.62477973C>T	ENSP00000373215:p.Arg959His	72	0		37	2	NM_183394	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847336	0.91277	0.0	2.33E-4	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.37584	1.19;1.19;1.19	6.17	6.17	0.99709	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.995	D;D;P;D	0.79784	0.969;0.993;0.791;0.923	T	0.63220	-0.6686	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	929;969;959;959	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	H	959;959;929;969	ENSP00000373215:R959H;ENSP00000350632:R929H;ENSP00000283269:R969H	ENSP00000283269:R969H	R	-	2	0	CADPS	62453013	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGT	.		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		T	62477973	C	T	62477973	3	4	3	1	0	0	0	0	1	0	0	0	2577	536	19	1	1229	1	CADPS	3	62477973	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	4387129	62477973	135544457	20	288											
HEG1	57493	hgsc.bcm.edu	37	3	124732804	124732804	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr3:124732804C>T	ENST00000311127.4	-	6	1686	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	540	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						AATAGCTGTGCCACGCACTTG	0.443																																					p.G540D		.											HEG1,colon,carcinoma,0,1	HEG1	0	0			c.G1619A						.						109	100	102					3																	124732804		1949	4145	6094	SO:0001583	missense	57493	exon6			GCTGTGCCACGCA	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.1619G>A	3.37:g.124732804C>T	ENSP00000311502:p.Gly540Asp	48	0		28	2	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156558	0.57259	.	.	ENSG00000173706	ENST00000311127	D	0.89123	-2.47	5.53	1.34	0.21922	.	.	.	.	.	D	0.82751	0.5105	L	0.50333	1.59	0.09310	N	1	B;B	0.28178	0.202;0.128	B;B	0.26202	0.067;0.018	T	0.69577	-0.5108	9	0.39692	T	0.17	.	4.8214	0.13392	0.0:0.5666:0.1508:0.2826	.	540;540	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	D	540	ENSP00000311502:G540D	ENSP00000311502:G540D	G	-	2	0	HEG1	126215494	0.288000	0.24324	0.016000	0.15963	0.408000	0.30992	0.457000	0.21875	0.049000	0.15920	0.650000	0.86243	GGC	.		0.443	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		T	124732804	C	T	124732804	3	4	3	1	0	0	0	0	1	0	0	0	7071	739	26	3	2574	3	HEG1	3	124732804	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	62254831	124732804	73289626	21	289											
LMLN	89782	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	197703534	197703534	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr3:197703534G>T	ENST00000330198.4	+	5	519	c.497G>T	c.(496-498)tGt>tTt	p.C166F	LMLN_ENST00000482695.1_Missense_Mutation_p.C114F|LMLN_ENST00000420910.2_Missense_Mutation_p.C166F|LMLN_ENST00000332636.5_Missense_Mutation_p.C114F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	166					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)		ACCGGGGAGTGTGCCGCACAC	0.473																																					p.C166F		.											.	.	.	0			c.G497T						.						105	108	107					3																	197703534		2203	4300	6503	SO:0001583	missense	89782	exon5			GGGAGTGTGCCGC	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.497G>T	3.37:g.197703534G>T	ENSP00000328829:p.Cys166Phe	97	0		50	4	NM_001136049	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397056	0.42512	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.61	4.73	0.59995	.	0.048523	0.85682	N	0.000000	T	0.57315	0.2045	M	0.84511	2.7	0.80722	D	1	B;B;B;B	0.29886	0.229;0.26;0.069;0.192	B;B;B;B	0.43301	0.415;0.356;0.082;0.291	T	0.61912	-0.6965	10	0.59425	D	0.04	-12.7891	11.6093	0.51049	0.0:0.0:0.811:0.189	.	166;114;166;114	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	F	114;166;94;166;114	ENSP00000418324:C114F;ENSP00000328829:C166F;ENSP00000390872:C94F;ENSP00000410926:C166F;ENSP00000328611:C114F	ENSP00000328829:C166F	C	+	2	0	LMLN	199187931	1.000000	0.71417	0.979000	0.43373	0.517000	0.34286	6.665000	0.74442	1.579000	0.49836	0.650000	0.86243	TGT	.		0.473	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		T	197703534	G	T	197703534	3	4	3	1	0	0	0	0	1	0	0	0	8877	1377	48	3	515	3	LMLN	3	197703534	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	72970730	197703534	318896	22	290											
FRG1	2483	hgsc.bcm.edu	37	4	190884267	190884267	+	Missense_Mutation	SNP	G	G	A	rs373037319		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr4:190884267G>A	ENST00000226798.4	+	9	982	c.760G>A	c.(760-762)Gac>Aac	p.D254N		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	254					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)		ATTGAAAGCCGACAGATACTG	0.299																																					p.D254N		.											FRG1,middle_lobe,carcinoma,0,1	FRG1	0	0			c.G760A						.						99	111	107					4																	190884267		2203	4300	6503	SO:0001583	missense	2483	exon9			AAAGCCGACAGAT	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.760G>A	4.37:g.190884267G>A	ENSP00000226798:p.Asp254Asn	77	1		34	3	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.222509	0.79464	.	.	ENSG00000109536	ENST00000226798	T	0.65916	-0.18	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.85581	0.1240	10	0.72032	D	0.01	-19.8783	14.0213	0.64558	0.0:0.0:1.0:0.0	.	254	Q14331	FRG1_HUMAN	N	254	ENSP00000226798:D254N	ENSP00000226798:D254N	D	+	1	0	FRG1	191121261	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.201000	0.95017	1.976000	0.57569	0.479000	0.44913	GAC	.		0.299	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190884267	G	A	190884267	3	1	3	1	0	0	0	0	1	0	0	0	6070	1058	37	1	794	1	FRG1	4	190884267	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		190884267	270009	23	291											
CAST	831	hgsc.bcm.edu	37	5	96073607	96073607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr5:96073607G>T	ENST00000341926.3	+	9	667	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	CAST_ENST00000510756.1_Nonsense_Mutation_p.E230*|CAST_ENST00000511049.1_Nonsense_Mutation_p.E155*|CAST_ENST00000395812.2_Nonsense_Mutation_p.E211*|CAST_ENST00000325674.7_Nonsense_Mutation_p.E230*|CAST_ENST00000504465.1_Nonsense_Mutation_p.E97*|CAST_ENST00000511782.1_Nonsense_Mutation_p.E155*|CAST_ENST00000359176.4_Nonsense_Mutation_p.E233*|CAST_ENST00000509903.1_Nonsense_Mutation_p.E147*|CAST_ENST00000395813.1_Nonsense_Mutation_p.E252*|CAST_ENST00000309190.5_Nonsense_Mutation_p.E147*|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508608.1_Nonsense_Mutation_p.E215*|CAST_ENST00000508830.1_Nonsense_Mutation_p.E252*|CAST_ENST00000338252.3_Nonsense_Mutation_p.E169*			P20810	ICAL_HUMAN	calpastatin	169					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)		AGGACCTGAAGAAACTGAAGA	0.338																																					p.E211X		.											CAST,NS,carcinoma,0,1	CAST	0	0			c.G631T						.						129	138	135					5																	96073607		2203	4300	6503	SO:0001587	stop_gained	831	exon9			CCTGAAGAAACTG	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.505G>T	5.37:g.96073607G>T	ENSP00000339914:p.Glu169*	67	0		39	2	NM_001042440	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Nonsense_Mutation	SNP	ENST00000341926.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.747055|4.747055	0.89663|0.89663	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508197|ENST00000512620	.|.	.|.	.|.	5.29|5.29	4.42|4.42	0.53409|0.53409	.|.	0.360006|.	0.26262|.	N|.	0.025399|.	.|T	.|0.54935	.|0.1889	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64483	.|-0.6397	.|3	0.28530|.	T|.	0.3|.	-3.5461|-3.5461	11.1998|11.1998	0.48734|0.48734	0.0869:0.0:0.9131:0.0|0.0869:0.0:0.9131:0.0	.|.	.|.	.|.	.|.	X|N	247;169;252;230;252;233;230;211;233;230;215;169;155;147;169;97;147;155;120|185	.|.	ENSP00000312523:E147X|.	E|K	+|+	1|3	0|2	CAST|CAST	96099363|96099363	1.000000|1.000000	0.71417|0.71417	0.132000|0.132000	0.22025|0.22025	0.525000|0.525000	0.34531|0.34531	3.999000|3.999000	0.57031|0.57031	1.237000|1.237000	0.43756|0.43756	0.655000|0.655000	0.94253|0.94253	GAA|AAG	.		0.338	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		T	96073607	G	T	96073607	4	4	3	1	0	0	0	0	0	1	0	0	2691	943	33	3	796	3	CAST	5	96073607	Nonsense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		96073607	84841653	24	292											
DMXL1	1657	bcgsc.ca	37	5	118580098	118580098	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr5:118580098C>A	ENST00000311085.8	+	42	8766	c.8686C>A	c.(8686-8688)Cca>Aca	p.P2896T	DMXL1_ENST00000539542.1_Missense_Mutation_p.P2917T|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2896										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)		AGCATATGCTCCAAAACATCA	0.358																																					p.P2896T													.	DMXL1	268	0			c.C8686A						.						84	79	80					5																	118580098		2202	4300	6502	SO:0001583	missense	1657	exon42			TATGCTCCAAAAC	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.8686C>A	5.37:g.118580098C>A	ENSP00000309690:p.Pro2896Thr	92	0		61	4	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006512	0.54361	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.02197	4.4;4.4	5.4	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.117129	0.64402	D	0.000017	T	0.05044	0.0135	L	0.55990	1.75	0.58432	D	0.999997	P;P	0.41929	0.765;0.759	B;B	0.43331	0.416;0.415	T	0.33471	-0.9867	10	0.66056	D	0.02	-5.8672	16.2405	0.82405	0.0:0.8671:0.1329:0.0	.	2917;2896	F5H269;Q9Y485	.;DMXL1_HUMAN	T	2896;2917	ENSP00000309690:P2896T;ENSP00000439479:P2917T	ENSP00000309690:P2896T	P	+	1	0	DMXL1	118607997	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.232000	0.51302	1.259000	0.44117	0.585000	0.79938	CCA	.		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		A	118580098	C	A	118580098	3	1	3	1	0	0	0	0	1	0	0	0	4608	855	30	3	8852	3	DMXL1	5	118580098	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	22506491	118580098	62335162	25	293											
SLC22A5	6584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	131729481	131729481	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr5:131729481G>A	ENST00000245407.3	+	9	1785	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	SLC22A5_ENST00000435065.2_Missense_Mutation_p.D546N	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	522					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)	AGACACCATTGACCAGATGCT	0.542																																					p.D522N		.											.	.	.	0			c.G1564A						.						234	218	223					5																	131729481		2203	4300	6503	SO:0001583	missense	6584	exon9			ACCATTGACCAGA	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.1564G>A	5.37:g.131729481G>A	ENSP00000245407:p.Asp522Asn	59	0		31	5	NM_003060	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095433	0.76870	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.75050	-0.85;-0.9	5.87	5.87	0.94306	.	0.325278	0.36268	N	0.002684	T	0.71896	0.3394	L	0.41027	1.25	0.47547	D	0.999452	B;B	0.20550	0.046;0.026	B;B	0.26310	0.068;0.038	T	0.66670	-0.5865	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	546;522	A2Q0V1;O76082	.;S22A5_HUMAN	N	522;546	ENSP00000245407:D522N;ENSP00000402760:D546N	ENSP00000245407:D522N	D	+	1	0	SLC22A5	131757380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.931000	0.70113	2.941000	0.99782	0.655000	0.94253	GAC	.		0.542	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		A	131729481	G	A	131729481	3	1	3	1	0	0	0	0	1	0	0	0	14502	1290	45	3	1598	3	SLC22A5	5	131729481	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	13149383	131729481	49185779	26	294											
TMCO6	55374	bcgsc.ca	37	5	140024571	140024571	+	Splice_Site	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr5:140024571C>T	ENST00000394671.3	+	12	1471	c.1370C>T	c.(1369-1371)gCt>gTt	p.A457V	TMCO6_ENST00000252100.6_Splice_Site_p.A463V|IK_ENST00000417647.2_5'Flank|TMCO6_ENST00000537378.1_Splice_Site_p.A217V|NDUFA2_ENST00000510680.1_Intron|MIR3655_ENST00000581765.1_RNA	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	457					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCCTAGGCTGTTCAGGTC	0.562																																					p.A457V													.	TMCO6	30	0			c.C1370T						.						85	84	84					5																	140024571		1913	4136	6049	SO:0001630	splice_region_variant	55374	exon12			CCTAGGCTGTTCA	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1369-1C>T	5.37:g.140024571C>T		19	0		13	3	NM_018502	Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550537	0.27739	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.70986	-0.53;-0.53;-0.53	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.186769	0.35349	N	0.003268	T	0.51601	0.1684	N	0.12746	0.255	0.30918	N	0.728348	B;B	0.20261	0.043;0.011	B;B	0.21546	0.035;0.014	T	0.52586	-0.8556	10	0.33141	T	0.24	-6.1129	10.4824	0.44702	0.0:0.9112:0.0:0.0888	.	463;457	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	V	457;217;463	ENSP00000378166:A457V;ENSP00000444474:A217V;ENSP00000252100:A463V	ENSP00000252100:A463V	A	+	2	0	TMCO6	140004755	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	2.060000	0.41394	2.575000	0.86900	0.655000	0.94253	GCT	.		0.562	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502	Missense_Mutation	T	140024571	C	T	140024571	5	4	3	1	0	0	0	0	0	0	1	0	16047	811	28	3	1416	3	TMCO6	5	140024571	Splice_Site	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	8295090	140024571	40890689	27	295											
ITK	3702	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	156670696	156670696	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr5:156670696G>T	ENST00000422843.3	+	12	1276	c.1124G>T	c.(1123-1125)gGg>gTg	p.G375V	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GGGCAATTTGGGTTGGTGCAT	0.517			T	SYK	peripheral T-cell lymphoma																																p.G375V	Esophageal Squamous(70;1378 1469 8785 19883)	.		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	.	0			c.G1124T						.						165	164	164					5																	156670696		2203	4300	6503	SO:0001583	missense	3702	exon12			AATTTGGGTTGGT	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1124G>T	5.37:g.156670696G>T	ENSP00000398655:p.Gly375Val	68	0		53	19	NM_005546	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124049	0.94429	.	.	ENSG00000113263	ENST00000422843	T	0.79749	-1.3	5.79	5.79	0.91817	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	0.94843	0.8334	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96636	0.9470	10	0.87932	D	0	.	20.0263	0.97523	0.0:0.0:1.0:0.0	.	375	Q08881	ITK_HUMAN	V	375	ENSP00000398655:G375V	ENSP00000398655:G375V	G	+	2	0	ITK	156603274	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	9.676000	0.98643	2.735000	0.93741	0.655000	0.94253	GGG	.		0.517	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			T	156670696	G	T	156670696	3	4	3	1	0	0	0	0	1	0	0	0	7936	1232	43	3	1170	3	ITK	5	156670696	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	16646125	156670696	24244564	28	296											
GABRA1	2554	hgsc.bcm.edu	37	5	161324315	161324315	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr5:161324315G>T	ENST00000428797.2	+	11	1613	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	GABRA1_ENST00000393943.4_Missense_Mutation_p.D420Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D420Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D420Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D420Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D420Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	420					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)	p.D420Y(1)		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)	CAGCAAAATTGACCGACTGTC	0.443																																					p.D420Y		.											GABRA1,NS,carcinoma,0,1	GABRA1	0	1	Substitution - Missense(1)	lung(1)	c.G1258T						.						149	149	149					5																	161324315		2203	4300	6503	SO:0001583	missense	2554	exon11			AAAATTGACCGAC		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.1258G>T	5.37:g.161324315G>T	ENSP00000393097:p.Asp420Tyr	67	0		41	3	NM_001127643	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581305	0.86748	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049362	0.85682	D	0.000000	D	0.99130	0.9700	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99589	1.0975	10	0.87932	D	0	.	19.3564	0.94416	0.0:0.0:1.0:0.0	.	420	P14867	GBRA1_HUMAN	Y	420	ENSP00000023897:D420Y;ENSP00000393097:D420Y;ENSP00000377517:D420Y;ENSP00000415441:D420Y;ENSP00000408041:D420Y;ENSP00000414232:D420Y	ENSP00000023897:D420Y	D	+	1	0	GABRA1	161256893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.695000	0.98691	2.642000	0.89623	0.563000	0.77884	GAC	.		0.443	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		T	161324315	G	T	161324315	3	4	3	1	0	0	0	0	1	0	0	0	6184	1290	45	3	1292	3	GABRA1	5	161324315	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	4653619	161324315	19590945	29	297											
RPL10A	4736	hgsc.bcm.edu	37	6	35438392	35438392	+	Missense_Mutation	SNP	G	G	T	rs1061530		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:35438392G>T	ENST00000322203.6	+	6	546	c.519G>T	c.(517-519)aaG>aaT	p.K173N	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	173					anatomical structure morphogenesis (GO:0009653)|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)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GTCACGTGAAGATGACAGACG	0.483																																					p.K173N		.											RPL10A,colon,carcinoma,0,1	RPL10A	0	0			c.G519T						.						166	150	156					6																	35438392		2203	4300	6503	SO:0001583	missense	4736	exon6			CGTGAAGATGACA	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.519G>T	6.37:g.35438392G>T	ENSP00000363018:p.Lys173Asn	122	0		53	2	NM_007104	B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175845	0.57692	.	.	ENSG00000198755	ENST00000322203	T	0.41065	1.01	4.67	4.67	0.58626	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	N	0.13043	0.29	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.04635	-1.0937	10	0.23302	T	0.38	.	16.1695	0.81793	0.0:0.0:1.0:0.0	.	173	P62906	RL10A_HUMAN	N	173	ENSP00000363018:K173N	ENSP00000363018:K173N	K	+	3	2	RPL10A	35546370	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.048000	0.57390	2.139000	0.66308	0.561000	0.74099	AAG	.		0.483	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		T	35438392	G	T	35438392	3	4	3	1	0	0	0	0	1	0	0	0	13600	933	33	3	541	3	RPL10A	6	35438392	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		35438392	135676675	30	298											
XPO5	57510	bcgsc.ca	37	6	43501688	43501688	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:43501688G>T	ENST00000265351.7	-	21	2609	c.2399C>A	c.(2398-2400)aCc>aAc	p.T800N		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	800					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)			CAGAGCCTTGGTGAAAGGCTC	0.398																																					p.T800N													.	XPO5	79	0			c.C2399A						.						143	135	138					6																	43501688		1832	4078	5910	SO:0001583	missense	57510	exon21			GCCTTGGTGAAAG	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.2399C>A	6.37:g.43501688G>T	ENSP00000265351:p.Thr800Asn	33	0		22	3	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005906	0.19199	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.66995	-0.24	5.62	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);	0.919846	0.09427	N	0.803655	T	0.33265	0.0857	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.22906	-1.0203	10	0.21014	T	0.42	-0.6326	10.3225	0.43775	0.0707:0.1342:0.7951:0.0	.	800	Q9HAV4	XPO5_HUMAN	N	800;505;340;428	ENSP00000265351:T800N	ENSP00000265351:T800N	T	-	2	0	XPO5	43609666	0.905000	0.30787	0.050000	0.19076	0.846000	0.48090	2.769000	0.47654	1.378000	0.46305	-0.254000	0.11334	ACC	.		0.398	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		T	43501688	G	T	43501688	3	4	3	1	0	0	0	0	1	0	0	0	17496	1261	44	3	1263	3	XPO5	6	43501688	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	8063296	43501688	127613379	31	299											
HSP90AB1	3326	broad.mit.edu	37	6	44221231	44221231	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:44221231G>T	ENST00000371554.1	+	12	2285	c.2071G>T	c.(2071-2073)Gat>Tat	p.D691Y	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D691Y|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D691Y			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	691					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)			TTCAGGTATTGATGAAGATGA	0.478											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D691Y													HSP90AB1,colon,carcinoma,-1,1	HSP90AB1	83	0			c.G2071T						.						76	78	77					6																	44221231		2203	4300	6503	SO:0001583	missense	3326	exon12			GGTATTGATGAAG	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.2071G>T	6.37:g.44221231G>T	ENSP00000360609:p.Asp691Tyr	38	0	922	34	3	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280267	0.80692	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.13901	2.55;2.55;2.55	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000001	T	0.45276	0.1334	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	0.999;0.985;1.0	D;D;D	0.79108	0.976;0.967;0.992	T	0.66424	-0.5927	10	0.87932	D	0	-29.3188	17.4037	0.87467	0.0:0.0:1.0:0.0	.	653;681;691	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Y	691	ENSP00000360709:D691Y;ENSP00000325875:D691Y;ENSP00000360609:D691Y	ENSP00000325875:D691Y	D	+	1	0	HSP90AB1	44329209	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.817000	0.99352	2.188000	0.69820	0.609000	0.83330	GAT	.		0.478	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		T	44221231	G	T	44221231	3	4	3	1	0	0	0	0	1	0	0	0	7429	1290	45	3	2113	3	HSP90AB1	6	44221231	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	719543	44221231	126893836	32	300											
TNFRSF21	27242	hgsc.bcm.edu	37	6	47251781	47251781	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:47251781T>C	ENST00000296861.2	-	3	1529	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	379					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)			CCGGGGCCCCTTTTTCAGAGT	0.512																																					p.K379R		.											TNFRSF21,right_lower_lobe,carcinoma,0,1	TNFRSF21	0	0			c.A1136G						.						98	104	102					6																	47251781		2203	4300	6503	SO:0001583	missense	27242	exon3			GGCCCCTTTTTCA	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.1136A>G	6.37:g.47251781T>C	ENSP00000296861:p.Lys379Arg	55	0		29	2	NM_014452	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.960173	0.92791	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70631	-0.5	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82068	-0.0640	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	379	O75509	TNR21_HUMAN	R	379;68	ENSP00000296861:K379R	ENSP00000296861:K379R	K	-	2	0	TNFRSF21	47359740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.708000	0.68377	2.371000	0.80710	0.533000	0.62120	AAG	.		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		C	47251781	T	C	47251781	3	2	3	1	0	0	0	0	1	0	0	0	16342	1609	56	4	847	4	TNFRSF21	6	47251781	Missense_Mutation	SNP	T	TCGA-3X-AAVB-01A-31D-A417-09	3030550	47251781	123863286	33	301											
WASF1	8936	hgsc.bcm.edu	37	6	110423269	110423269	+	Silent	SNP	A	A	G			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:110423269A>G	ENST00000392589.1	-	10	1880	c.1044T>C	c.(1042-1044)ccT>ccC	p.P348P	WASF1_ENST00000392588.1_Silent_p.P348P|WASF1_ENST00000359451.2_Silent_p.P348P|WASF1_ENST00000392586.1_Silent_p.P348P|WASF1_ENST00000392587.2_Silent_p.P348P	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	348	Poly-Pro.				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)		CTGGAGGGGGAGGAGTTGAAG	0.567																																					p.P348P		.											WASF1,colon,carcinoma,0,1	WASF1	0	0			c.T1044C						.						104	103	103					6																	110423269		2203	4300	6503	SO:0001819	synonymous_variant	8936	exon9			AGGGGGAGGAGTT	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.1044T>C	6.37:g.110423269A>G		32	1		22	4	NM_001024935	E1P5F2|Q5SZK7	Silent	SNP	ENST00000392589.1	37	CCDS5080.1																																																																																			.		0.567	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		G	110423269	A	G	110423269	2	3	3	1	0	0	0	0	0	0	0	1	17301	291	11	4		4	WASF1	6	110423269	Silent	SNP	A	TCGA-3X-AAVB-01A-31D-A417-09	63171488	110423269	60691798	34	302											
LAMA2	3908	hgsc.bcm.edu	37	6	129777488	129777488	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:129777488G>T	ENST00000421865.2	+	48	6765	c.6716G>T	c.(6715-6717)aGa>aTa	p.R2239I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2239	Laminin G-like 1. {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)		AGAACTGGGAGAAATGGAACT	0.438																																					p.R2239I		.											.	.	.	0			c.G6716T						.						132	120	124					6																	129777488		2203	4300	6503	SO:0001583	missense	3908	exon48			CTGGGAGAAATGG	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.6716G>T	6.37:g.129777488G>T	ENSP00000400365:p.Arg2239Ile	74	0		45	4	NM_000426	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771757	0.49680	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.47177	0.85	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.123960	0.64402	D	0.000017	T	0.23171	0.0560	L	0.48362	1.52	0.47374	D	0.9994	B;B	0.26902	0.163;0.163	B;B	0.26310	0.068;0.068	T	0.09618	-1.0666	9	.	.	.	.	8.2498	0.31710	0.0842:0.0:0.7586:0.1572	.	2240;2239	A6NF00;P24043	.;LAMA2_HUMAN	I	2239;2238;2239;257	ENSP00000400365:R2239I	.	R	+	2	0	LAMA2	129819181	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.158000	0.58150	2.596000	0.87737	0.557000	0.71058	AGA	.		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129777488	G	T	129777488	3	4	3	1	0	0	0	0	1	0	0	0	8634	942	33	3	6906	3	LAMA2	6	129777488	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	19354219	129777488	41337579	35	303											
SGK1	6446	bcgsc.ca	37	6	134492266	134492266	+	Missense_Mutation	SNP	G	G	T	rs78176488		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:134492266G>T	ENST00000237305.7	-	10	1021	c.933C>A	c.(931-933)aaC>aaA	p.N311K	SGK1_ENST00000367858.5_Missense_Mutation_p.N406K|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Missense_Mutation_p.N339K|SGK1_ENST00000367857.5_Missense_Mutation_p.N301K|SGK1_ENST00000413996.3_Missense_Mutation_p.N325K|SGK1_ENST00000475719.2_Missense_Mutation_p.N267K	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	311	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)		GGAGAGGCTTGTTCAGAATGT	0.468																																					p.N406K													SGK1_ENST00000528577,NS,carcinoma,0,5	SGK1	387	0			c.C1218A						.						116	117	117					6																	134492266		2203	4300	6503	SO:0001583	missense	6446	exon12			AGGCTTGTTCAGA	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.933C>A	6.37:g.134492266G>T	ENSP00000237305:p.Asn311Lys	53	1		37	15	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754712	0.69648	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.63580	3.2;3.2;3.2;3.2;3.2;-0.05	5.77	5.77	0.91146	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	0.44808	0.1311	N	0.05608	-0.01	0.80722	D	1	P;P;P;P;P;P	0.47034	0.799;0.647;0.578;0.581;0.889;0.784	B;B;P;B;P;B	0.49597	0.361;0.191;0.491;0.264;0.616;0.383	T	0.51973	-0.8637	10	0.40728	T	0.16	.	19.9827	0.97334	0.0:0.0:1.0:0.0	.	339;325;267;301;406;311	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	K	406;325;311;301;339;267	ENSP00000356832:N406K;ENSP00000396242:N325K;ENSP00000237305:N311K;ENSP00000356831:N301K;ENSP00000434450:N339K;ENSP00000434302:N267K	ENSP00000237305:N311K	N	-	3	2	SGK1	134533959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.728000	0.93425	0.655000	0.94253	AAC	.		0.468	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			T	134492266	G	T	134492266	3	4	3	1	0	0	0	0	1	0	0	0	14252	1368	48	3	374	3	SGK1	6	134492266	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	4714778	134492266	36622801	36	304											
PDE7B	27115	hgsc.bcm.edu	37	6	136512843	136512843	+	Silent	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr6:136512843C>A	ENST00000308191.6	+	13	1521	c.1218C>A	c.(1216-1218)ctC>ctA	p.L406L	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	406	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGGGCCACCTCGCACACAACA	0.617																																					p.L406L		.											PDE7B,NS,malignant_melanoma,+2,1	PDE7B	+2	0			c.C1218A						.						49	42	44					6																	136512843		2203	4300	6503	SO:0001819	synonymous_variant	27115	exon13			CCACCTCGCACAC	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1218C>A	6.37:g.136512843C>A		59	0		32	2	NM_018945	Q5W154	Silent	SNP	ENST00000308191.6	37	CCDS5175.1																																																																																			.		0.617	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			A	136512843	C	A	136512843	2	1	3	1	0	0	0	0	0	0	0	1	11691	871	31	2		2	PDE7B	6	136512843	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	2020577	136512843	34602224	37	305											
DAGLB	221955	hgsc.bcm.edu;bcgsc.ca	37	7	6487440	6487440	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:6487440C>T	ENST00000297056.6	-	1	203	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	DAGLB_ENST00000436575.1_Intron|DAGLB_ENST00000421761.2_5'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.A12T|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000428902.2_5'UTR|KDELR2_ENST00000463747.1_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	12					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)		CTGGCGATGGCCCAGCGCCGG	0.672																																					p.A12T		.											.	.	.	0			c.G34A						.						32	34	33					7																	6487440		2201	4300	6501	SO:0001583	missense	221955	exon1			CGATGGCCCAGCG	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.34G>A	7.37:g.6487440C>T	ENSP00000297056:p.Ala12Thr	96	0		75	4	NM_139179	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	C	36	5.787531	0.96945	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000471132;ENST00000432248	T;T	0.42900	0.97;0.96	5.27	4.36	0.52297	.	0.268520	0.36740	N	0.002432	T	0.39860	0.1094	M	0.63428	1.95	0.80722	D	1	P;P	0.35077	0.483;0.483	B;B	0.33339	0.162;0.058	T	0.19257	-1.0311	10	0.23302	T	0.38	.	14.4524	0.67394	0.1534:0.8466:0.0:0.0	.	12;12	B4DQU0;Q8NCG7	.;DGLB_HUMAN	T	12	ENSP00000297056:A12T;ENSP00000391171:A12T	ENSP00000297056:A12T	A	-	1	0	DAGLB	6453965	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	4.794000	0.62482	1.173000	0.42796	0.555000	0.69702	GCC	.		0.672	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		T	6487440	C	T	6487440	3	4	3	1	0	0	0	0	1	0	0	0	4236	739	26	3	2044	3	DAGLB	7	6487440	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		6487440	152651223	38	306											
SNX13	23161	hgsc.bcm.edu	37	7	17836491	17836491	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:17836491G>T	ENST00000409389.1	-	25	2790	c.2618C>A	c.(2617-2619)aCa>aAa	p.T873K	SNX13_ENST00000428135.3_Missense_Mutation_p.T862K|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	873					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)					TGCTACTCTTGTTCTCATTCG	0.333																																					p.T862K		.											SNX13,caecum,carcinoma,0,1	SNX13	0	0			c.C2585A						.						209	189	195					7																	17836491		1837	4097	5934	SO:0001583	missense	23161	exon25			ACTCTTGTTCTCA	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.2618C>A	7.37:g.17836491G>T	ENSP00000386705:p.Thr873Lys	91	0		43	2	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	G	29.0	4.965744	0.92855	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.33654	1.4;1.4	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.994	T	0.69595	-0.5103	10	0.44086	T	0.13	-13.1594	19.214	0.93768	0.0:0.0:1.0:0.0	.	659;873;862	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	K	873;862;910	ENSP00000386705:T873K;ENSP00000398789:T862K	ENSP00000242044:T910K	T	-	2	0	SNX13	17803016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.529000	0.85273	0.557000	0.71058	ACA	.		0.333	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		T	17836491	G	T	17836491	3	4	3	1	0	0	0	0	1	0	0	0	14929	1377	48	3	296	3	SNX13	7	17836491	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	11349051	17836491	141302172	39	307											
ABCB5	340273	hgsc.bcm.edu	37	7	20778674	20778674	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:20778674C>A	ENST00000404938.2	+	24	3588	c.2936C>A	c.(2935-2937)tCc>tAc	p.S979Y	ABCB5_ENST00000258738.6_Missense_Mutation_p.S534Y	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	979	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						CCTGAATATTCCAAAGCCAAA	0.428																																					p.S979Y		.											ABCB5_ENST00000404938,right_upper_lobe,carcinoma,0,2	ABCB5_ENST00000404938	0	0			c.C2936A						.						59	57	58					7																	20778674		2203	4300	6503	SO:0001583	missense	340273	exon24			AATATTCCAAAGC	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.2936C>A	7.37:g.20778674C>A	ENSP00000384881:p.Ser979Tyr	75	0		53	3	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732524	0.89482	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.72394	-0.65;-0.65	4.99	4.99	0.66335	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.64402	D	0.000016	T	0.76695	0.4023	L	0.43152	1.355	0.48696	D	0.999691	D;D	0.65815	0.995;0.975	P;P	0.59703	0.862;0.805	T	0.78768	-0.2075	10	0.87932	D	0	.	16.1633	0.81734	0.0:1.0:0.0:0.0	.	979;534	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	Y	979;534	ENSP00000384881:S979Y;ENSP00000258738:S534Y	ENSP00000258738:S534Y	S	+	2	0	ABCB5	20745199	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.709000	0.54853	2.774000	0.95407	0.484000	0.47621	TCC	.		0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20778674	C	A	20778674	3	1	3	1	0	0	0	0	1	0	0	0	44	855	30	3	3067	3	ABCB5	7	20778674	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	2942183	20778674	138359989	40	308											
SP4	6671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAGAAGAAGGAGGAGGAGGA	0.512																																					p.E7K		.											SP4,colon,carcinoma,0,1	SP4	0	0			c.G19A						.						20	20	20					7																	21468306		2171	4251	6422	SO:0001583	missense	6671	exon2			AAGAAGGAGGAGG		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.19G>A	7.37:g.21468306G>A	ENSP00000222584:p.Glu7Lys	67	1		39	5	NM_003112	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG	.		0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		A	21468306	G	A	21468306	3	1	3	1	0	0	0	0	1	0	0	0	15011	1175	41	3	25	3	SP4	7	21468306	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	689632	21468306	137670357	41	309											
TBX20	57057	bcgsc.ca	37	7	35242184	35242184	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:35242184G>A	ENST00000408931.3	-	8	1728	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	401					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCTGGCAATGGCCGATGGTGT	0.557																																					p.A401V													.	TBX20	96	0			c.C1202T						.						79	78	78					7																	35242184		1997	4185	6182	SO:0001583	missense	57057	exon8			GCAATGGCCGATG	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1202C>T	7.37:g.35242184G>A	ENSP00000386170:p.Ala401Val	77	0		47	4	NM_001077653	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740315	0.89573	.	.	ENSG00000164532	ENST00000408931	D	0.88046	-2.33	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88603	0.6481	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.87035	0.2137	10	0.29301	T	0.29	.	19.7407	0.96230	0.0:0.0:1.0:0.0	.	401	Q9UMR3	TBX20_HUMAN	V	401	ENSP00000386170:A401V	ENSP00000386170:A401V	A	-	2	0	TBX20	35208709	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	9.476000	0.97823	2.654000	0.90174	0.609000	0.83330	GCC	.		0.557	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		A	35242184	G	A	35242184	3	1	3	1	0	0	0	0	1	0	0	0	15703	1203	42	3	144	3	TBX20	7	35242184	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	13773878	35242184	123896479	42	310											
ELMO1	9844	hgsc.bcm.edu	37	7	36910057	36910057	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:36910057C>A	ENST00000310758.4	-	20	2493	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	ELMO1_ENST00000396040.2_Missense_Mutation_p.V136L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V616L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V318L|ELMO1_ENST00000396045.3_Missense_Mutation_p.V136L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V616L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	616	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCCGTCACCACGGCTTTGATA	0.398																																					p.V616L		.											ELMO1,NS,carcinoma,0,2	ELMO1	0	0			c.G1846T						.						148	135	139					7																	36910057		2203	4300	6503	SO:0001583	missense	9844	exon20			TCACCACGGCTTT	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1846G>T	7.37:g.36910057C>A	ENSP00000312185:p.Val616Leu	38	0		42	2	NM_014800	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	7.771	0.707396	0.15239	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.6	4.67	0.58626	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.063724	0.64402	D	0.000008	T	0.43478	0.1249	N	0.11255	0.115	0.44719	D	0.997714	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	10	0.06757	T	0.87	.	7.1448	0.25577	0.0:0.7094:0.1467:0.1439	.	616	Q92556	ELMO1_HUMAN	L	318;136;616;520;136;616;616	ENSP00000342142:V318L;ENSP00000379360:V136L;ENSP00000312185:V616L;ENSP00000379355:V136L;ENSP00000406952:V616L;ENSP00000394458:V616L	ENSP00000312185:V616L	V	-	1	0	ELMO1	36876582	0.978000	0.34361	0.995000	0.50966	0.991000	0.79684	2.443000	0.44881	2.814000	0.96858	0.655000	0.94253	GTG	.		0.398	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		A	36910057	C	A	36910057	3	1	3	1	0	0	0	0	1	0	0	0	5081	536	19	2	349	2	ELMO1	7	36910057	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	1667873	36910057	122228606	43	311											
POLM	27434	bcgsc.ca	37	7	44113248	44113248	+	Silent	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:44113248G>A	ENST00000242248.5	-	10	1475	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	POLM_ENST00000335195.6_Silent_p.S421S|POLM_ENST00000395831.3_Silent_p.S378S|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	458					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						ACAGCCCATGGCTGTTCAGCC	0.617								DNA polymerases (catalytic subunits)																													p.S458S													.	POLM	50	0			c.C1374T						.						62	67	65					7																	44113248		2203	4300	6503	SO:0001819	synonymous_variant	27434	exon10			CCCATGGCTGTTC	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.1374C>T	7.37:g.44113248G>A		64	0		33	4	NM_013284	D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																			.		0.617	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44113248	G	A	44113248	2	1	3	1	0	0	0	0	0	0	0	1	12245	1194	42	3		3	POLM	7	44113248	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	7203191	44113248	115025415	44	312											
CALN1	83698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	71868298	71868298	+	Intron	SNP	G	G	A	rs376303075		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:71868298G>A	ENST00000395276.2	-	2	238				CALN1_ENST00000395275.2_Silent_p.D19D|CALN1_ENST00000431984.1_Intron|CALN1_ENST00000412588.1_Silent_p.D19D			Q9BXU9	CABP8_HUMAN	calneuron 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GGGCTCCTCCGTCCCCCTTTT	0.627																																					p.D19D		.											.	.	.	0			c.C57T						.	G		2,3398		0,2,1698	12	12	12		57	0.8	0	7		12	1,7565		0,1,3782	no	coding-synonymous	CALN1	NM_031468.3		0,3,5480	AA,AG,GG		0.0132,0.0588,0.0274		19/262	71868298	3,10963	1700	3783	5483	SO:0001627	intron_variant	83698	exon2			TCCTCCGTCCCCC	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000395276.2:c.6+8744C>T	7.37:g.71868298G>A		156	0		97	35	NM_031468	J3KQA7	Silent	SNP	ENST00000395276.2	37	CCDS5541.1																																																																																			.		0.627	CALN1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252013.3	NM_031468		A	71868298	G	A	71868298	1	1	3	0	1	0	0	0	0	0	0	0	2598	1136	40	1		1	CALN1	7	71868298	Intron	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	27755050	71868298	87270365	45	313											
NSUN5	55695	hgsc.bcm.edu;bcgsc.ca	37	7	72722459	72722459	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:72722459G>T	ENST00000252594.6	-	2	200	c.185C>A	c.(184-186)gCg>gAg	p.A62E	NSUN5_ENST00000438747.2_Missense_Mutation_p.A62E|NSUN5_ENST00000310326.8_Missense_Mutation_p.A62E|NSUN5_ENST00000428206.1_Missense_Mutation_p.A62E			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	62					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)				CTTCTTCTCCGCACGGAGGAG	0.657																																					p.A62E		.											.	.	.	0			c.C185A						.						37	43	41					7																	72722459		2201	4289	6490	SO:0001583	missense	55695	exon2			TTCTCCGCACGGA	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.185C>A	7.37:g.72722459G>T	ENSP00000252594:p.Ala62Glu	70	0		46	4	NM_148956	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950462	0.92660	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.13196	2.62;2.61;2.83;2.83	4.08	3.2	0.36748	.	0.365820	0.28624	N	0.014696	T	0.07999	0.0200	L	0.37630	1.12	0.09310	N	1	B;B;P;B	0.46220	0.395;0.288;0.874;0.216	B;B;B;B	0.41202	0.063;0.067;0.35;0.064	T	0.11421	-1.0588	10	0.02654	T	1	.	5.5485	0.17078	0.1878:0.1653:0.6469:0.0	.	62;62;62;62	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	E	62	ENSP00000393081:A62E;ENSP00000252594:A62E;ENSP00000388464:A62E;ENSP00000309126:A62E	ENSP00000252594:A62E	A	-	2	0	NSUN5	72360395	0.749000	0.28305	0.972000	0.41901	0.916000	0.54674	1.794000	0.38774	0.932000	0.37266	0.485000	0.47835	GCG	.		0.657	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		T	72722459	G	T	72722459	3	4	3	1	0	0	0	0	1	0	0	0	10720	1087	38	2	1272	2	NSUN5	7	72722459	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	854161	72722459	86416204	46	314											
ACHE	43	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	100490325	100490325	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:100490325G>A	ENST00000412389.1	-	2	1338	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	ACHE_ENST00000419336.2_Intron|ACHE_ENST00000411582.1_Missense_Mutation_p.R395W|ACHE_ENST00000428317.1_Missense_Mutation_p.R395W|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.R395W|ACHE_ENST00000302913.4_Missense_Mutation_p.R395W			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	395					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)	ACCCCGACCCGCACCCCGGCC	0.637																																					p.R395W													.	ACHE	80	0			c.C1183T						.						25	27	26					7																	100490325		2203	4300	6503	SO:0001583	missense	43	exon3			CGACCCGCACCCC		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.1183C>T	7.37:g.100490325G>A	ENSP00000394976:p.Arg395Trp	102	1		116	16	NM_000665	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427224	0.62733	.	.	ENSG00000087085	ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.12	4.12	0.48240	Carboxylesterase, type B (1);	0.130494	0.49916	D	0.000133	T	0.72407	0.3456	L	0.55481	1.735	0.40165	D	0.977104	D;D	0.89917	1.0;0.999	P;P	0.61070	0.883;0.812	T	0.75587	-0.3266	10	0.87932	D	0	.	9.1666	0.37054	0.0:0.0:0.7827:0.2172	.	395;395	P22303-2;P22303	.;ACES_HUMAN	W	395	ENSP00000241069:R395W;ENSP00000414858:R395W;ENSP00000303211:R395W;ENSP00000394976:R395W;ENSP00000404865:R395W	ENSP00000241069:R395W	R	-	1	2	ACHE	100328261	0.015000	0.18098	1.000000	0.80357	0.989000	0.77384	2.032000	0.41127	2.143000	0.66587	0.491000	0.48974	CGG	.		0.637	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		A	100490325	G	A	100490325	3	1	3	1	0	0	0	0	1	0	0	0	141	1086	38	1	808	1	ACHE	7	100490325	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	27767866	100490325	58648338	47	315											
NAMPT	10135	ucsc.edu;bcgsc.ca	37	7	105894816	105894816	+	Silent	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:105894816G>T	ENST00000222553.3	-	9	1531	c.1224C>A	c.(1222-1224)ggC>ggA	p.G408G		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	408					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATACCCCAAGGCCATTAGTTA	0.383																																					p.G408G													.	NAMPT	37	0			c.C1224A						.						128	109	116					7																	105894816		2203	4300	6503	SO:0001819	synonymous_variant	10135	exon9			CCCAAGGCCATTA	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1224C>A	7.37:g.105894816G>T		70	0		36	4	NM_005746	A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Silent	SNP	ENST00000222553.3	37	CCDS5737.1																																																																																			.		0.383	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		T	105894816	G	T	105894816	2	4	3	1	0	0	0	0	0	0	0	1	10187	1190	42	3		3	NAMPT	7	105894816	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	5404491	105894816	53243847	48	316											
CCDC136	64753	hgsc.bcm.edu	37	7	128446399	128446399	+	Silent	SNP	C	C	A	rs368845976		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:128446399C>A	ENST00000297788.4	+	8	1565	c.1198C>A	c.(1198-1200)Cgg>Agg	p.R400R	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	400						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R400W(2)|p.R516W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GACTGAGCTCCGGCAGCTCAA	0.483																																					p.R400R		.											CCDC136,NS,carcinoma,0,1	CCDC136	0	3	Substitution - Missense(3)	lung(3)	c.C1198A						.						32	32	32					7																	128446399		1965	4160	6125	SO:0001819	synonymous_variant	64753	exon8			GAGCTCCGGCAGC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1198C>A	7.37:g.128446399C>A		27	0		16	2	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	CCDS47704.1																																																																																			.		0.483	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		A	128446399	C	A	128446399	2	1	3	1	0	0	0	0	0	0	0	1	2777	643	23	2		2	CCDC136	7	128446399	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	22551583	128446399	30692264	49	317											
C7orf33	202865	hgsc.bcm.edu	37	7	148288051	148288051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:148288051G>T	ENST00000307003.2	+	1	395	c.34G>T	c.(34-36)Gag>Tag	p.E12*		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	12										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGCCTTGAAGAGTGTCCCTG	0.547																																					p.E12X		.											C7orf33,colon,carcinoma,0,1	C7orf33	0	0			c.G34T						.						59	59	59					7																	148288051		2203	4300	6503	SO:0001587	stop_gained	202865	exon1			CTTGAAGAGTGTC	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.34G>T	7.37:g.148288051G>T	ENSP00000304071:p.Glu12*	73	0		37	2	NM_145304		Nonsense_Mutation	SNP	ENST00000307003.2	37	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600563	0.96614	.	.	ENSG00000170279	ENST00000307003	.	.	.	3.98	0.125	0.14718	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.7821	0.23652	0.4:0.0:0.6:0.0	.	.	.	.	X	12	.	ENSP00000304071:E12X	E	+	1	0	C7orf33	147918984	0.080000	0.21391	0.000000	0.03702	0.002000	0.02628	1.062000	0.30555	-0.079000	0.12707	-0.253000	0.11424	GAG	.		0.547	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		T	148288051	G	T	148288051	4	4	3	1	0	0	0	0	0	1	0	0	2395	943	33	3	36	3	C7orf33	7	148288051	Nonsense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	19841652	148288051	10850612	50	318											
MLL3	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	151891214	151891214	+	Splice_Site	SNP	C	C	G			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr7:151891214C>G	ENST00000262189.6	-	31	4759		c.e31-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						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)										CCGCCAAGCTCTAGGAGATAA	0.418																																					.		.											MLL3_ENST00000355193,bladder,carcinoma,0,2	MLL3_ENST00000355193	0	0			c.4541-1G>C						.						82	80	81					7																	151891214		2203	4300	6503	SO:0001630	splice_region_variant	58508	exon32			CAAGCTCTAGGAG	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.4541-1G>C	7.37:g.151891214C>G		88	0		50	9	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024206	0.35701	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.01	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8392	0.63428	0.0:0.9251:0.0:0.0749	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151522147	1.000000	0.71417	0.996000	0.52242	0.312000	0.27988	3.565000	0.53798	2.592000	0.87571	0.650000	0.86243	.	.		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	G	151891214	C	G	151891214	5	3	3	1	0	0	0	0	0	0	1	0	9660	927	32	5	10311	5	MLL3	7	151891214	Splice_Site	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	3603163	151891214	7247449	51	319											
OTUD6B	51633	hgsc.bcm.edu	37	8	92096314	92096314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr8:92096314G>T	ENST00000285420.4	+	6	958	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	OTUD6B_ENST00000404789.3_Nonsense_Mutation_p.E156*	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	257				VNIVTENCS -> GKHSY (in Ref. 1; AAD34073). {ECO:0000305}.			cysteine-type peptidase activity (GO:0008234)	p.E257*(1)|p.E287*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AGTTGGTGAAGAATATTCAAA	0.284																																					p.E287X		.											OTUD6B,colon,carcinoma,0,2	OTUD6B	0	2	Substitution - Nonsense(2)	large_intestine(2)	c.G859T						.						50	45	47					8																	92096314		2200	4294	6494	SO:0001587	stop_gained	51633	exon6			GGTGAAGAATATT		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.859G>T	8.37:g.92096314G>T	ENSP00000285420:p.Glu287*	68	0		49	2	NM_016023	A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Nonsense_Mutation	SNP	ENST00000285420.4	37	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	37	6.499811	0.97616	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.3371	20.1162	0.97934	0.0:0.0:1.0:0.0	.	.	.	.	X	287;156	.	ENSP00000285420:E287X	E	+	1	0	OTUD6B	92165490	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	8.599000	0.90856	2.757000	0.94681	0.563000	0.77884	GAA	.		0.284	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		T	92096314	G	T	92096314	4	4	3	1	0	0	0	0	0	1	0	0	11356	943	33	3	881	3	OTUD6B	8	92096314	Nonsense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		92096314	54267708	52	320											
ERMP1	79956	hgsc.bcm.edu	37	9	5810057	5810057	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr9:5810057G>T	ENST00000339450.5	-	8	1591	c.1502C>A	c.(1501-1503)gCc>gAc	p.A501D	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.A277D|ERMP1_ENST00000543230.1_Missense_Mutation_p.A79D	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	501						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)		TATTATTTTGGCTACAGTTGC	0.368																																					p.A501D		.											ERMP1,colon,carcinoma,0,1	ERMP1	0	0			c.C1502A						.						120	115	117					9																	5810057		2203	4300	6503	SO:0001583	missense	79956	exon8			ATTTTGGCTACAG	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.1502C>A	9.37:g.5810057G>T	ENSP00000340427:p.Ala501Asp	64	1		38	2	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501918	0.64298	.	.	ENSG00000099219	ENST00000339450;ENST00000543230;ENST00000381506	T	0.51325	0.71	5.77	3.95	0.45737	.	0.172615	0.52532	D	0.000077	T	0.46502	0.1396	L	0.36672	1.1	0.42527	D	0.99302	D	0.57257	0.979	P	0.51806	0.68	T	0.35051	-0.9804	10	0.36615	T	0.2	-3.0367	11.6672	0.51381	0.1976:0.0:0.8024:0.0	.	501	Q7Z2K6	ERMP1_HUMAN	D	501;79;277	ENSP00000340427:A501D	ENSP00000340427:A501D	A	-	2	0	ERMP1	5800057	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	4.637000	0.61346	0.906000	0.36621	0.655000	0.94253	GCC	.		0.368	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		T	5810057	G	T	5810057	3	4	3	1	0	0	0	0	1	0	0	0	5252	1203	42	3	1244	3	ERMP1	9	5810057	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		5810057	135403374	53	321											
ERMP1	79956	hgsc.bcm.edu	37	9	5825098	5825098	+	Silent	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr9:5825098G>T	ENST00000339450.5	-	3	851	c.762C>A	c.(760-762)gtC>gtA	p.V254V	ERMP1_ENST00000214893.5_Intron|ERMP1_ENST00000381506.3_Silent_p.V30V	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	254						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)		TCACTTGCAAGACATTTTCCT	0.338																																					p.V254V		.											.	.	.	0			c.C762A						.						65	61	62					9																	5825098		2203	4300	6503	SO:0001819	synonymous_variant	79956	exon3			TTGCAAGACATTT	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.762C>A	9.37:g.5825098G>T		126	0		71	4	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			.		0.338	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		T	5825098	G	T	5825098	2	4	3	1	0	0	0	0	0	0	0	1	5252	929	33	3		3	ERMP1	9	5825098	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	15041	5825098	135388333	54	322											
RNF38	152006	hgsc.bcm.edu	37	9	36376031	36376031	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr9:36376031G>T	ENST00000259605.6	-	3	363	c.256C>A	c.(256-258)Cca>Aca	p.P86T	RNF38_ENST00000377877.4_5'UTR|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_Missense_Mutation_p.P3T|RNF38_ENST00000350199.4_Missense_Mutation_p.P3T|RNF38_ENST00000353739.4_Missense_Mutation_p.P36T|RNF38_ENST00000357058.3_Missense_Mutation_p.P3T	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	86					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ATCTCCCATGGTCGCATTGGT	0.502																																					p.P86T		.											RNF38,NS,carcinoma,0,1	RNF38	0	0			c.C256A						.						236	179	198					9																	36376031		2203	4300	6503	SO:0001583	missense	152006	exon3			CCCATGGTCGCAT		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.256C>A	9.37:g.36376031G>T	ENSP00000259605:p.Pro86Thr	92	0		45	2	NM_022781	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139467	0.94560	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87220	0.6123	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86947	0.2083	10	0.72032	D	0.01	-9.7107	18.3732	0.90420	0.0:0.0:1.0:0.0	.	36;86	Q9H0F5-2;Q9H0F5	.;RNF38_HUMAN	T	86;36;3;3;3	ENSP00000259605:P86T;ENSP00000335239:P36T;ENSP00000367117:P3T;ENSP00000349566:P3T;ENSP00000343947:P3T	ENSP00000259605:P86T	P	-	1	0	RNF38	36366031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.941000	0.99782	0.655000	0.94253	CCA	.		0.502	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		T	36376031	G	T	36376031	3	4	3	1	0	0	0	0	1	0	0	0	13535	1261	44	3	1331	3	RNF38	9	36376031	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	30550933	36376031	104837400	55	323											
C9orf135	138255	hgsc.bcm.edu;bcgsc.ca	37	9	72501779	72501779	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr9:72501779G>T	ENST00000377197.3	+	5	562	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	C9orf135_ENST00000527647.1_Intron|RN7SL570P_ENST00000484405.2_RNA|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	159						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTACTCAGAAGATTATGTTCC	0.338																																					p.D159Y		.											.	.	.	0			c.G475T						.						128	109	116					9																	72501779		2203	4299	6502	SO:0001583	missense	138255	exon5			TCAGAAGATTATG		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.475G>T	9.37:g.72501779G>T	ENSP00000366402:p.Asp159Tyr	97	0		42	4	NM_001010940	A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262310	0.23051	.	.	ENSG00000204711	ENST00000377197	.	.	.	4.9	2.93	0.34026	.	1.182760	0.06135	N	0.671303	T	0.55924	0.1951	L	0.34521	1.04	0.36861	D	0.888404	D	0.54964	0.969	P	0.55999	0.789	T	0.50491	-0.8822	9	0.87932	D	0	-12.6425	6.8469	0.23992	0.2294:0.0:0.7706:0.0	.	159	Q5VTT2	CI135_HUMAN	Y	159	.	ENSP00000366402:D159Y	D	+	1	0	C9orf135	71691599	0.878000	0.30173	0.548000	0.28192	0.005000	0.04900	1.918000	0.40006	0.676000	0.31285	-0.225000	0.12378	GAT	.		0.338	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		T	72501779	G	T	72501779	3	4	3	1	0	0	0	0	1	0	0	0	2465	942	33	3	493	3	C9orf135	9	72501779	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	36125748	72501779	68711652	56	324											
NAA35	60560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	88631517	88631517	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr9:88631517A>T	ENST00000361671.5	+	18	1765	c.1632A>T	c.(1630-1632)caA>caT	p.Q544H		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	544					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ATGGCTCTCAAATGGCAGAGG	0.373																																					p.Q544H		.											.	.	.	0			c.A1632T						.						102	95	97					9																	88631517		2203	4300	6503	SO:0001583	missense	60560	exon18			CTCTCAAATGGCA	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1632A>T	9.37:g.88631517A>T	ENSP00000354972:p.Gln544His	60	0		27	18	NM_024635	Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397482	0.62177	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.4	-4.22	0.03800	.	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	P	0.46784	0.884	P	0.45577	0.486	T	0.44081	-0.9351	9	0.12430	T	0.62	-12.1945	11.8616	0.52469	0.5419:0.0:0.4581:0.0	.	544	Q5VZE5	NAA35_HUMAN	H	544	.	ENSP00000354972:Q544H	Q	+	3	2	NAA35	87821337	1.000000	0.71417	0.947000	0.38551	0.981000	0.71138	0.914000	0.28624	-1.139000	0.02881	0.402000	0.26972	CAA	.		0.373	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		T	88631517	A	T	88631517	3	4	3	1	0	0	0	0	1	0	0	0	10161	11	1	5	1698	5	NAA35	9	88631517	Missense_Mutation	SNP	A	TCGA-3X-AAVB-01A-31D-A417-09	16129738	88631517	52581914	57	325											
KIAA0368	23392	hgsc.bcm.edu	37	9	114133913	114133913	+	Silent	SNP	C	C	T	rs372133962		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr9:114133913C>T	ENST00000338205.5	-	42	4944	c.4725G>A	c.(4723-4725)acG>acA	p.T1575T	KIAA0368_ENST00000259335.4_Silent_p.T1753T|KIAA0368_ENST00000465499.1_5'Flank|KIAA0368_ENST00000374378.3_Silent_p.T39T			Q5VYK3	ECM29_HUMAN	KIAA0368	1581					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.T1753T(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						TTCCTGCCCACGTTCTTCCAG	0.428													C|||	1	0.000199681	8e-04	0	5008	,	,		21476	0		0	False		,,,				2504	0				p.T1753T		.											KIAA0368,NS,carcinoma,0,1	KIAA0368	0	1	Substitution - coding silent(1)	endometrium(1)	c.G5259A						.						196	185	188					9																	114133913		1923	4132	6055	SO:0001819	synonymous_variant	23392	exon44			TGCCCACGTTCTT	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.4725G>A	9.37:g.114133913C>T		81	0		44	2	NM_001080398	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																				.		0.428	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114133913	C	T	114133913	2	4	3	1	0	0	0	0	0	0	0	1	8198	523	19	1		1	KIAA0368	9	114133913	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	25502396	114133913	27079518	58	326											
ANKRD16	54522	hgsc.bcm.edu	37	10	5925099	5925099	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr10:5925099G>A	ENST00000380094.5	-	5	1262	c.719C>T	c.(718-720)gCc>gTc	p.A240V	ANKRD16_ENST00000380092.4_Missense_Mutation_p.A240V|ANKRD16_ENST00000191063.8_Missense_Mutation_p.A240V	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	240								p.A240V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CAGAGCCTGGGCACCCAGGCT	0.542																																					p.A240V		.											ANKRD16,caecum,carcinoma,0,1	ANKRD16	0	1	Substitution - Missense(1)	large_intestine(1)	c.C719T						.						76	60	65					10																	5925099		2203	4300	6503	SO:0001583	missense	54522	exon5			GCCTGGGCACCCA	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.719C>T	10.37:g.5925099G>A	ENSP00000369436:p.Ala240Val	16	0		16	2	NM_001009943	A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697811	0.68386	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.60548	2.47;2.47;0.18	5.03	5.03	0.67393	Ankyrin repeat-containing domain (3);	0.106709	0.64402	D	0.000006	T	0.56731	0.2005	N	0.13299	0.325	0.58432	D	0.999999	P;P;D	0.65815	0.913;0.912;0.995	P;P;P	0.60286	0.548;0.773;0.872	T	0.53265	-0.8463	10	0.18710	T	0.47	-1.9265	18.3598	0.90371	0.0:0.0:1.0:0.0	.	240;240;240	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	V	240	ENSP00000369436:A240V;ENSP00000369434:A240V;ENSP00000352361:A240V	ENSP00000352361:A240V	A	-	2	0	ANKRD16	5965105	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	5.421000	0.66447	2.513000	0.84729	0.558000	0.71614	GCC	.		0.542	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		A	5925099	G	A	5925099	3	1	3	1	0	0	0	0	1	0	0	0	645	1203	42	3	378	3	ANKRD16	10	5925099	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		5925099	129609648	59	327											
A1CF	29974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	52601740	52601740	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr10:52601740A>G	ENST00000373993.1	-	3	291	c.247T>C	c.(247-249)Tat>Cat	p.Y83H	A1CF_ENST00000282641.2_Missense_Mutation_p.Y83H|A1CF_ENST00000373995.3_Missense_Mutation_p.Y91H|A1CF_ENST00000395489.2_Missense_Mutation_p.Y76H|A1CF_ENST00000373997.3_Missense_Mutation_p.Y83H|A1CF_ENST00000395495.1_Missense_Mutation_p.Y83H|A1CF_ENST00000374001.2_Missense_Mutation_p.Y83H			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	83	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						CTCATTTCATAAATTTTACCG	0.318																																					p.Y91H		.											.	.	.	0			c.T271C						.						107	103	105					10																	52601740		2202	4299	6501	SO:0001583	missense	29974	exon6			TTTCATAAATTTT	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.247T>C	10.37:g.52601740A>G	ENSP00000363105:p.Tyr83His	88	0		41	17	NM_001198820	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505852	0.85282	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.67625	2.065	0.80722	D	1	P;P;D;P	0.89917	0.93;0.872;1.0;0.936	P;P;D;P	0.71656	0.644;0.674;0.974;0.535	T	0.17837	-1.0356	10	0.66056	D	0.02	-4.7153	14.0338	0.64632	1.0:0.0:0.0:0.0	.	76;83;83;91	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	H	83;83;83;91;83;83;66;76;83	ENSP00000363113:Y83H;ENSP00000363105:Y83H;ENSP00000363109:Y83H;ENSP00000363107:Y91H;ENSP00000282641:Y83H;ENSP00000378873:Y83H;ENSP00000378868:Y76H;ENSP00000397953:Y83H	ENSP00000282641:Y83H	Y	-	1	0	A1CF	52271746	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.866000	0.92307	2.206000	0.71126	0.383000	0.25322	TAT	.		0.318	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		G	52601740	A	G	52601740	3	3	3	1	0	0	0	0	1	0	0	0	2	362	13	4	1573	4	A1CF	10	52601740	Missense_Mutation	SNP	A	TCGA-3X-AAVB-01A-31D-A417-09	46676641	52601740	82933007	60	328											
DLG5	9231	hgsc.bcm.edu	37	10	79613209	79613209	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr10:79613209C>T	ENST00000372391.2	-	5	772	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R256Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	256					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)	p.R256L(1)		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)			GTTTCGCTCCCGCAGCAGCTG	0.622																																					p.R256Q		.											DLG5,NS,carcinoma,0,1	DLG5	0	1	Substitution - Missense(1)	lung(1)	c.G767A						.						58	42	48					10																	79613209		2203	4299	6502	SO:0001583	missense	9231	exon5			CGCTCCCGCAGCA	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.767G>A	10.37:g.79613209C>T	ENSP00000361467:p.Arg256Gln	60	0		28	2	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	32	5.138262	0.94560	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04654	3.58;3.61	4.6	4.6	0.57074	.	0.213520	0.23534	N	0.047147	T	0.12008	0.0292	L	0.44542	1.39	0.39510	D	0.968344	D;P	0.63046	0.992;0.927	P;B	0.54544	0.755;0.325	T	0.03545	-1.1026	10	0.56958	D	0.05	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	256;256	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	Q	256	ENSP00000361467:R256Q;ENSP00000361464:R256Q	ENSP00000361464:R256Q	R	-	2	0	DLG5	79283215	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.252000	0.78309	2.266000	0.75297	0.655000	0.94253	CGG	.		0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			T	79613209	C	T	79613209	3	4	3	1	0	0	0	0	1	0	0	0	4572	652	23	1	5104	1	DLG5	10	79613209	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	27011469	79613209	55921538	61	329											
MUC2	4583	bcgsc.ca	37	11	1093312	1093312	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr11:1093312C>G	ENST00000441003.2	+	30	5158	c.5131C>G	c.(5131-5133)Cca>Gca	p.P1711A	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.P1678A|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)	gaccccaaccccaacacccac	0.637																																					p.P1711A													.	MUC2	614	0			c.C5131G						.						145	191	175					11																	1093312		1907	3560	5467	SO:0001583	missense	4583	exon30			CCAACCCCAACAC	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.5131C>G	11.37:g.1093312C>G	ENSP00000415183:p.Pro1711Ala	487	17		279	18	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.304	-0.972196	0.02215	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.08458	3.09;3.11	1.4	-2.79	0.05841	.	0.190326	0.20108	U	0.099085	T	0.02533	0.0077	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.41106	-0.9527	9	0.08179	T	0.78	.	2.4144	0.04432	0.4935:0.3028:0.0:0.2036	.	1711	E7EUV1	.	A	1711;1678	ENSP00000415183:P1711A;ENSP00000351956:P1678A	ENSP00000351956:P1678A	P	+	1	0	MUC2	1083312	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-5.838000	0.00095	-0.673000	0.05259	-1.098000	0.02139	CCA	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093312	C	G	1093312	3	3	3	1	0	0	0	0	1	0	0	0	10013	623	22	5	5249	5	MUC2	11	1093312	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		1093312	133913204	62	330											
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651251	1651251	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr11:1651251G>A	ENST00000399676.2	+	1	219	c.181G>A	c.(181-183)Ggc>Agc	p.G61S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	61						keratin filament (GO:0045095)		p.G61S(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)		atgtggctccggctgCTGTGT	0.682																																					p.G61S		.											KRTAP5-5,NS,carcinoma,0,2	KRTAP5-5	0	1	Substitution - Missense(1)	prostate(1)	c.G181A						.						57	70	66					11																	1651251		2196	4292	6488	SO:0001583	missense	439915	exon1			GGCTCCGGCTGCT	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.181G>A	11.37:g.1651251G>A	ENSP00000382584:p.Gly61Ser	77	1		38	2	NM_001001480	A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	-	0.150	-1.092370	0.01858	.	.	ENSG00000185940	ENST00000399676	T	0.00691	5.84	3.73	1.09	0.20402	.	.	.	.	.	T	0.00328	0.0010	N	0.01352	-0.895	0.18873	N	0.999988	B	0.10296	0.003	B	0.04013	0.001	T	0.41360	-0.9513	9	0.07990	T	0.79	.	3.0968	0.06312	0.4645:0.0:0.3441:0.1915	.	61	Q701N2	KRA55_HUMAN	S	61	ENSP00000382584:G61S	ENSP00000382584:G61S	G	+	1	0	KRTAP5-5	1607827	0.509000	0.26163	0.989000	0.46669	0.064000	0.16182	-0.215000	0.09279	-0.039000	0.13602	-1.322000	0.01289	GGC	.		0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			A	1651251	G	A	1651251	3	1	3	1	0	0	0	0	1	0	0	0	8592	1116	39	1	183	1	KRTAP5-5	11	1651251	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	557939	1651251	133355265	63	331											
SYT9	143425	hgsc.bcm.edu	37	11	7334708	7334708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr11:7334708G>T	ENST00000318881.6	+	3	817	c.580G>T	c.(580-582)Gga>Tga	p.G194*	SYT9_ENST00000396716.2_Nonsense_Mutation_p.G162*	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	194					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACAGTTGACTGGAATTGGTAG	0.413																																					p.G194X		.											.,1	.	91	0			c.G580T						.						83	83	83					11																	7334708		2201	4296	6497	SO:0001587	stop_gained	143425	exon3			TTGACTGGAATTG	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.580G>T	11.37:g.7334708G>T	ENSP00000324419:p.Gly194*	60	0		47	2	NM_175733		Nonsense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357656	0.82243	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	.	.	.	X	162;194	.	ENSP00000324419:G194X	G	+	1	0	SYT9	7291284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.916000	0.92745	2.932000	0.99384	0.643000	0.83706	GGA	.		0.413	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		T	7334708	G	T	7334708	4	4	3	1	0	0	0	0	0	1	0	0	15528	1349	47	3	590	3	SYT9	11	7334708	Nonsense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	5683457	7334708	127671808	64	332											
BACE1	23621	hgsc.bcm.edu	37	11	117186290	117186290	+	Silent	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr11:117186290G>T	ENST00000313005.6	-	1	682	c.222C>A	c.(220-222)ggC>ggA	p.G74G	AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000428381.2_Silent_p.G74G|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Silent_p.G74G|BACE1_ENST00000513780.1_Silent_p.G74G|BACE1_ENST00000445823.2_Silent_p.G74G	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	74					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)		CCACGTAGTAGCCCTGCCCCG	0.682																																					p.G74G		.											BACE1,right_upper_lobe,carcinoma,0,1	BACE1	0	0			c.C222A						.						47	45	45					11																	117186290		2201	4296	6497	SO:0001819	synonymous_variant	23621	exon1			GTAGTAGCCCTGC	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.222C>A	11.37:g.117186290G>T		84	0		56	3	NM_138972	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	CCDS8383.1																																																																																			.		0.682	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			T	117186290	G	T	117186290	2	4	3	1	0	0	0	0	0	0	0	1	1282	958	34	3		3	BACE1	11	117186290	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	109851582	117186290	17820226	65	333											
MCAM	4162	hgsc.bcm.edu	37	11	119181068	119181068	+	Silent	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr11:119181068C>T	ENST00000264036.4	-	15	1916	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	634					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTGGTCTCCCGGAGCCCTCT	0.587																																					p.P634P		.											MCAM,caecum,carcinoma,0,1	MCAM	0	0			c.G1902A						.						56	58	57					11																	119181068		2199	4295	6494	SO:0001819	synonymous_variant	4162	exon15			GTCTCCCGGAGCC	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1902G>A	11.37:g.119181068C>T		54	0		42	2	NM_006500	O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	CCDS31690.1																																																																																			.		0.587	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			T	119181068	C	T	119181068	2	4	3	1	0	0	0	0	0	0	0	1	9406	639	23	1		1	MCAM	11	119181068	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	1994778	119181068	15825448	66	334											
FAM118B	79607	hgsc.bcm.edu;bcgsc.ca	37	11	126131328	126131328	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr11:126131328G>T	ENST00000533050.1	+	8	1484	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	FAM118B_ENST00000529731.1_Missense_Mutation_p.V255L|FAM118B_ENST00000360194.4_Missense_Mutation_p.V330L	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	331										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)		AGCAGGGATGGTGAGAGAAGG	0.378																																					p.V331L		.											.	.	.	0			c.G991T						.						166	162	164					11																	126131328		2201	4299	6500	SO:0001583	missense	79607	exon8			GGGATGGTGAGAG	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.991G>T	11.37:g.126131328G>T	ENSP00000433343:p.Val331Leu	81	0		69	4	NM_024556	Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	7.648	0.682376	0.14907	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194	T;T;T;T	0.42900	1.52;1.55;0.96;1.54	5.04	4.13	0.48395	.	0.906234	0.09472	N	0.797566	T	0.22781	0.0550	N	0.08118	0	0.19775	N	0.999952	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16276	-1.0408	10	0.24483	T	0.36	-4.2023	7.7096	0.28669	0.0889:0.2087:0.7024:0.0	.	255;330;331	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	L	331;330;255;330	ENSP00000433343:V331L;ENSP00000434952:V330L;ENSP00000432712:V255L;ENSP00000353321:V330L	ENSP00000353321:V330L	V	+	1	0	FAM118B	125636538	0.956000	0.32656	0.963000	0.40424	0.993000	0.82548	2.427000	0.44740	1.491000	0.48482	0.603000	0.83216	GTG	.		0.378	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		T	126131328	G	T	126131328	3	4	3	1	0	0	0	0	1	0	0	0	5431	1261	44	3	1013	3	FAM118B	11	126131328	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	6950260	126131328	8875188	67	335											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	.		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,+1,6023	KRAS_ENST00000256078	+1	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	c.G34C	GRCh37	CM076251	KRAS	M	rs121913530	.						93	83	86					12																	25398285		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	CGCCACCAGCTCC	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	56	0		45	9	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	.		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		G	25398285	C	G	25398285	3	3	3	1	0	0	0	0	1	0	0	0	8465	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		25398285	108453610	68	336											
STAT6	6778	ucsc.edu;bcgsc.ca	37	12	57498569	57498569	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr12:57498569G>T	ENST00000300134.3	-	10	1354	c.1029C>A	c.(1027-1029)aaC>aaA	p.N343K	STAT6_ENST00000537215.2_Missense_Mutation_p.N233K|STAT6_ENST00000543873.2_Missense_Mutation_p.N343K|STAT6_ENST00000556155.1_Missense_Mutation_p.N343K|STAT6_ENST00000538913.2_Missense_Mutation_p.N233K|STAT6_ENST00000454075.3_Missense_Mutation_p.N343K	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	343					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						AGGGCACAGTGTTGTTGATGA	0.567																																					p.N343K													.	STAT6	69	0			c.C1029A						.						151	115	127					12																	57498569		2203	4300	6503	SO:0001583	missense	6778	exon10			CACAGTGTTGTTG	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.1029C>A	12.37:g.57498569G>T	ENSP00000300134:p.Asn343Lys	25	0		12	4	NM_001178079	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.60|18.60	3.658438|3.658438	0.67586|0.67586	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	.|T;T;T;T;T;T	.|0.78707	.|-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.79|4.79	2.89|2.89	0.33648|0.33648	.|STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	.|0.239777	.|0.42682	.|D	.|0.000678	D|D	0.83626|0.83626	0.5295|0.5295	M|M	0.76574|0.76574	2.34|2.34	0.41786|0.41786	D|D	0.989843|0.989843	.|D;D	.|0.64830	.|0.994;0.99	.|D;D	.|0.64042	.|0.921;0.921	D|D	0.83842|0.83842	0.0258|0.0258	5|10	.|0.87932	.|D	.|0	-14.0692|-14.0692	7.2585|7.2585	0.26189|0.26189	0.2771:0.0:0.7229:0.0|0.2771:0.0:0.7229:0.0	.|.	.|343;343	.|A8K4S9;P42226	.|.;STAT6_HUMAN	N|K	44|343;233;233;343;343;233;343;233;343	.|ENSP00000300134:N343K;ENSP00000445409:N233K;ENSP00000438451:N343K;ENSP00000451742:N343K;ENSP00000444530:N233K;ENSP00000401486:N343K	.|ENSP00000300134:N343K	H|N	-|-	1|3	0|2	STAT6|STAT6	55784836|55784836	0.882000|0.882000	0.30256|0.30256	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	1.178000|1.178000	0.31981|0.31981	1.204000|1.204000	0.43247|0.43247	0.655000|0.655000	0.94253|0.94253	CAC|AAC	.		0.567	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		T	57498569	G	T	57498569	3	4	3	1	0	0	0	0	1	0	0	0	15317	1368	48	3	1566	3	STAT6	12	57498569	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	32100284	57498569	76353326	69	337											
KDM2B	84678	hgsc.bcm.edu	37	12	121881589	121881589	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr12:121881589G>A	ENST00000377071.4	-	17	2531	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S188L	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)	p.S459L(1)|p.S820L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGTTTGAAGCGATGAGGCCTA	0.607											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S820L		.											KDM2B_ENST00000377071,rectum,carcinoma,0,2	KDM2B_ENST00000377071	0	2	Substitution - Missense(2)	large_intestine(2)	c.C2459T						.						36	42	40					12																	121881589		1972	4154	6126	SO:0001583	missense	84678	exon17			TGAAGCGATGAGG	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.2459C>T	12.37:g.121881589G>A	ENSP00000366271:p.Ser820Leu	44	0	1514	24	2	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201087	0.38905	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377071;ENST00000540043;ENST00000261824	T;T	0.22945	2.24;1.93	4.86	3.9	0.45041	.	0.357803	0.20448	N	0.092149	T	0.10981	0.0268	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.18310	0.009;0.027;0.027	B;B;B	0.12156	0.007;0.007;0.007	T	0.12502	-1.0545	10	0.30854	T	0.27	-12.2278	9.8788	0.41220	0.0:0.0:0.7966:0.2034	.	260;820;263	B7ZB05;Q8NHM5;B4DSN4	.;KDM2B_HUMAN;.	L	820;188;820;263;823	ENSP00000437821:S188L;ENSP00000366271:S820L	ENSP00000261824:S823L	S	-	2	0	KDM2B	120365972	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.385000	0.52485	2.698000	0.92095	0.561000	0.74099	TCG	.		0.607	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		A	121881589	G	A	121881589	3	1	3	1	0	0	0	0	1	0	0	0	8152	1059	37	1	1631	1	KDM2B	12	121881589	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	64383020	121881589	11970306	70	338											
RAN	5901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	131359125	131359125	+	Silent	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr12:131359125G>A	ENST00000543796.1	+	5	540	c.282G>A	c.(280-282)tcG>tcA	p.S94S	RAN_ENST00000392367.3_Silent_p.S111S|RAN_ENST00000254675.3_Silent_p.S6S|RAN_ENST00000392369.2_Silent_p.S94S|RAN_ENST00000541630.1_Silent_p.S6S			P62826	RAN_HUMAN	RAN, member RAS oncogene family	94					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)	p.S94S(1)		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)		ATGTAACATCGAGAGTTACTT	0.408																																					p.S94S		.											RAN,NS,carcinoma,0,1	RAN	0	1	Substitution - coding silent(1)	lung(1)	c.G282A						.						126	106	113					12																	131359125		2203	4300	6503	SO:0001819	synonymous_variant	5901	exon5			AACATCGAGAGTT	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.282G>A	12.37:g.131359125G>A		95	1		38	13	NM_006325	A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Silent	SNP	ENST00000543796.1	37	CCDS9271.1																																																																																			.		0.408	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325		A	131359125	G	A	131359125	2	1	3	1	0	0	0	0	0	0	0	1	13069	1045	37	1		1	RAN	12	131359125	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	9477536	131359125	2492770	71	339											
TUBGCP3	10426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	113200144	113200144	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr13:113200144C>T	ENST00000261965.3	-	11	1390	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A402T|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	402					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					TTTGTGTAGGCGTGGACAGCT	0.498																																					p.A402T		.											TUBGCP3,NS,carcinoma,0,2	TUBGCP3	0	0			c.G1204A						.						156	153	154					13																	113200144		2203	4300	6503	SO:0001583	missense	10426	exon11			TGTAGGCGTGGAC	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1204G>A	13.37:g.113200144C>T	ENSP00000261965:p.Ala402Thr	48	0		29	4	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147480	0.57151	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.07908	3.15;3.15	5.28	5.28	0.74379	.	0.104462	0.64402	D	0.000004	T	0.06050	0.0157	N	0.12182	0.205	0.52501	D	0.999958	B;B;B	0.26809	0.074;0.018;0.16	B;B;B	0.19946	0.027;0.016;0.027	T	0.46762	-0.9168	10	0.19590	T	0.45	-23.2422	18.9596	0.92673	0.0:1.0:0.0:0.0	.	392;402;402	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	T	402	ENSP00000261965:A402T;ENSP00000364821:A402T	ENSP00000261965:A402T	A	-	1	0	TUBGCP3	112248145	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	4.269000	0.58890	2.476000	0.83614	0.549000	0.68633	GCC	.		0.498	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		T	113200144	C	T	113200144	3	4	3	1	0	0	0	0	1	0	0	0	16816	768	27	1	1567	1	TUBGCP3	13	113200144	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		113200144	1969734	72	340											
FLJ10357	55701	hgsc.bcm.edu	37	14	21542360	21542360	+	Silent	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr14:21542360G>A	ENST00000298694.4	+	3	598	c.471G>A	c.(469-471)cgG>cgA	p.R157R	ARHGEF40_ENST00000298693.3_Silent_p.R157R			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	157						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R157R(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACAAGGACCGGCCAACAGGTC	0.607																																					p.R157R		.											ARHGEF40_ENST00000298694,colon,carcinoma,+1,1	ARHGEF40_ENST00000298694	+1	1	Substitution - coding silent(1)	prostate(1)	c.G471A						.						58	61	60					14																	21542360		2203	4300	6503	SO:0001819	synonymous_variant	55701	exon3			GGACCGGCCAACA		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.471G>A	14.37:g.21542360G>A		53	0		39	2	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	CCDS32041.1																																																																																			.		0.607	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			A	21542360	G	A	21542360	2	1	3	1	0	0	0	0	0	0	0	1	5948	1190	42	3		3	FLJ10357	14	21542360	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		21542360	85807180	73	341											
HAUS4	54930	hgsc.bcm.edu	37	14	23424312	23424312	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr14:23424312G>T	ENST00000206474.7	-	2	304	c.52C>A	c.(52-54)Caa>Aaa	p.Q18K	HAUS4_ENST00000555367.1_Missense_Mutation_p.Q18K|HAUS4_ENST00000347758.2_Missense_Mutation_p.Q18K|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000555986.1_Missense_Mutation_p.Q18K|MIR4707_ENST00000579686.1_RNA|HAUS4_ENST00000490506.1_5'UTR|HAUS4_ENST00000541587.1_Missense_Mutation_p.Q18K|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.Q18K|HAUS4_ENST00000397409.4_Missense_Mutation_p.Q18K			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	18					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)		p.Q18*(1)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTACCTTGTTGAAGTATT	0.408																																					p.Q18K		.											HAUS4,NS,carcinoma,0,1	HAUS4	0	1	Substitution - Nonsense(1)	lung(1)	c.C52A						.						142	133	136					14																	23424312		2203	4300	6503	SO:0001583	missense	54930	exon2			TACCTTGTTGAAG	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.52C>A	14.37:g.23424312G>T	ENSP00000206474:p.Gln18Lys	54	0		47	3	NM_001166270	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386901	0.42308	.	.	ENSG00000092036	ENST00000206474;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000556915;ENST00000554516;ENST00000557591	.	.	.	5.47	4.52	0.55395	.	0.218947	0.48767	D	0.000175	T	0.36026	0.0952	L	0.34521	1.04	0.19775	N	0.999957	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.27606	-1.0069	9	0.59425	D	0.04	.	10.7047	0.45948	0.0:0.0:0.8098:0.1902	.	18;18;18	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	K	18	.	ENSP00000206474:Q18K	Q	-	1	0	HAUS4	22494152	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	1.889000	0.39718	2.575000	0.86900	0.561000	0.74099	CAA	.		0.408	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			T	23424312	G	T	23424312	3	4	3	1	0	0	0	0	1	0	0	0	6995	1386	48	3	1075	3	HAUS4	14	23424312	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	1881952	23424312	83925228	74	342											
ARG2	384	ucsc.edu;bcgsc.ca	37	14	68114848	68114848	+	Silent	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr14:68114848G>T	ENST00000261783.3	+	7	987	c.807G>T	c.(805-807)ggG>ggT	p.G269G	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	269					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTGTTGTCGGGGGACTAACCT	0.433																																					p.G269G													.	ARG2	20	0			c.G807T						.						86	79	82					14																	68114848		2203	4300	6503	SO:0001819	synonymous_variant	384	exon7			TGTCGGGGGACTA	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.807G>T	14.37:g.68114848G>T		53	0		43	4	NM_001172	B2R690|Q6FHY8	Silent	SNP	ENST00000261783.3	37	CCDS9785.1																																																																																			.		0.433	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		T	68114848	G	T	68114848	2	4	3	1	0	0	0	0	0	0	0	1	858	1219	43	3		3	ARG2	14	68114848	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	44690536	68114848	39234692	75	343											
PTPN21	11099	broad.mit.edu;bcgsc.ca	37	14	88946343	88946343	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	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													.	PTPN21	113	0			c.G1432A						.						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	21	0		13	4	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	.		0.667	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			T	88946343	C	T	88946343	3	4	3	1	0	0	0	0	1	0	0	0	12831	652	23	1	2120	1	PTPN21	14	88946343	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	20831495	88946343	18403197	76	344											
EML5	161436	hgsc.bcm.edu	37	14	89171303	89171303	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr14:89171303G>T	ENST00000380664.5	-	13	1951	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	EML5_ENST00000554922.1_Missense_Mutation_p.P651H|EML5_ENST00000352093.5_Missense_Mutation_p.P651H			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	651						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						TTTAAGCTGAGGTAGATCTTC	0.333																																					p.P651H		.											.	.	.	0			c.C1952A						.						131	113	118					14																	89171303		1793	4067	5860	SO:0001583	missense	161436	exon13			AGCTGAGGTAGAT	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.1952C>A	14.37:g.89171303G>T	ENSP00000370039:p.Pro651His	79	0		60	4	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325442	0.60743	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.50548	0.97;0.74;1.01	5.14	5.14	0.70334	.	0.273076	0.35805	N	0.002968	T	0.63593	0.2524	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	T	0.65344	-0.6191	10	0.72032	D	0.01	-13.965	18.7877	0.91961	0.0:0.0:1.0:0.0	.	651	Q05BV3	EMAL5_HUMAN	H	651	ENSP00000451998:P651H;ENSP00000298315:P651H;ENSP00000370039:P651H	ENSP00000298315:P651H	P	-	2	0	EML5	88241056	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.668000	0.90789	0.460000	0.39030	CCT	.		0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89171303	G	T	89171303	3	4	3	1	0	0	0	0	1	0	0	0	5116	1000	35	3	4105	3	EML5	14	89171303	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	224960	89171303	18178237	77	345											
TTC8	123016	hgsc.bcm.edu	37	14	89338781	89338781	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr14:89338781G>T	ENST00000345383.5	+	12	1386	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	TTC8_ENST00000354441.6_Missense_Mutation_p.K179N|TTC8_ENST00000358622.5_Missense_Mutation_p.K246N|TTC8_ENST00000338104.6_Missense_Mutation_p.K460N|TTC8_ENST00000346301.4_Missense_Mutation_p.K404N|TTC8_ENST00000536576.1_Missense_Mutation_p.K205N|TTC8_ENST00000380656.2_Missense_Mutation_p.K444N	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	470					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						AGATGCGGAAGGGCCACGTTG	0.527																																					p.K444N		.											TTC8,colon,carcinoma,0,1	TTC8	0	0			c.G1332T						.						135	113	120					14																	89338781		2203	4300	6503	SO:0001583	missense	123016	exon13			GCGGAAGGGCCAC	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.1302G>T	14.37:g.89338781G>T	ENSP00000339486:p.Lys434Asn	77	0		44	2	NM_144596	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.20|15.20|15.20	2.764018|2.764018|2.764018	0.49574|0.49574|0.49574	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000557580|ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	.|T;T;T;T;T;T;T|.	.|0.59638|.	.|0.25;0.25;0.25;0.25;0.25;0.25;0.25|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	.|0.091515|.	.|0.64402|.	.|D|.	.|0.000001|.	T|T|T	0.67382|0.67382|0.67382	0.2887|0.2887|0.2887	M|M|M	0.77820|0.77820|0.77820	2.39|2.39|2.39	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|B;B;B;B;B|.	.|0.32467|.	.|0.372;0.007;0.22;0.002;0.005|.	.|B;B;B;B;B|.	.|0.30716|.	.|0.065;0.031;0.119;0.012;0.018|.	T|T|T	0.68655|0.68655|0.68655	-0.5351|-0.5351|-0.5351	5|10|5	.|0.23302|.	.|T|.	.|0.38|.	-13.9832|-13.9832|-13.9832	7.6284|7.6284|7.6284	0.28226|0.28226|0.28226	0.1954:0.0:0.8046:0.0|0.1954:0.0:0.8046:0.0|0.1954:0.0:0.8046:0.0	.|.|.	.|179;205;470;414;444|.	.|Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.|.;.;TTC8_HUMAN;.;.|.	W|N|M	233|434;205;404;460;179;444;246|394	.|ENSP00000339486:K434N;ENSP00000445067:K205N;ENSP00000298324:K404N;ENSP00000337653:K460N;ENSP00000346427:K179N;ENSP00000370031:K444N;ENSP00000351439:K246N|.	.|ENSP00000337653:K460N|.	G|K|R	+|+|+	1|3|2	0|2|0	TTC8|TTC8|TTC8	88408534|88408534|88408534	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	2.383000|2.383000|2.383000	0.44354|0.44354|0.44354	2.793000|2.793000|2.793000	0.96121|0.96121|0.96121	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GGG|AAG|AGG	.		0.527	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		T	89338781	G	T	89338781	3	4	3	1	0	0	0	0	1	0	0	0	16763	991	35	3	1382	3	TTC8	14	89338781	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	167478	89338781	18010759	78	346											
TRPM1	4308	bcgsc.ca	37	15	31355481	31355481	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr15:31355481C>T	ENST00000256552.6	-	8	952	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	TRPM1_ENST00000542188.1_Missense_Mutation_p.V286M|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.V247M	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)		ACGAGGGGCACGCCCTGCCCC	0.577																																					p.V286M													.	TRPM1	183	0			c.G856A						.						85	98	94					15																	31355481		2031	4166	6197	SO:0001583	missense	4308	exon7			GGGGCACGCCCTG	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.805G>A	15.37:g.31355481C>T	ENSP00000256552:p.Val269Met	27	0		22	3	NM_001252020		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178173	0.94846	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.38560	1.13;1.13;1.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.975;0.999	T	0.77284	-0.2645	10	0.87932	D	0	-34.5273	19.7652	0.96335	0.0:1.0:0.0:0.0	.	247;247	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	247;286;269;247	ENSP00000380897:V247M;ENSP00000437849:V286M;ENSP00000256552:V269M	ENSP00000256552:V269M	V	-	1	0	TRPM1	29142773	1.000000	0.71417	0.993000	0.49108	0.953000	0.61014	7.776000	0.85560	2.668000	0.90789	0.650000	0.86243	GTG	.		0.577	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31355481	C	T	31355481	3	4	3	1	0	0	0	0	1	0	0	0	16633	536	19	1	4156	1	TRPM1	15	31355481	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		31355481	71175911	79	347											
CTDSPL2	51496	bcgsc.ca	37	15	44807020	44807020	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr15:44807020G>T	ENST00000260327.4	+	10	1653	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	CTD-2329K10.1_ENST00000561324.1_RNA|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D292Y|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D364Y|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D292Y	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	364	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)		GAACATACTAGACCCTAAAAA	0.318																																					p.D364Y													.	CTDSPL2	31	0			c.G1090T						.						51	51	51					15																	44807020		2198	4290	6488	SO:0001583	missense	51496	exon10			ATACTAGACCCTA	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.1090G>T	15.37:g.44807020G>T	ENSP00000260327:p.Asp364Tyr	102	0		45	4	NM_016396	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352474	0.82132	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.26067	1.76;1.76	5.57	5.57	0.84162	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84793	0.0780	10	0.87932	D	0	-7.9807	19.5486	0.95309	0.0:0.0:1.0:0.0	.	292;364	Q05D32-2;Q05D32	.;CTSL2_HUMAN	Y	364;292	ENSP00000260327:D364Y;ENSP00000380000:D292Y	ENSP00000260327:D364Y	D	+	1	0	CTDSPL2	42594312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.841000	0.99482	2.609000	0.88269	0.591000	0.81541	GAC	.		0.318	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		T	44807020	G	T	44807020	3	4	3	1	0	0	0	0	1	0	0	0	4015	942	33	3	1124	3	CTDSPL2	15	44807020	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	13451539	44807020	57724372	80	348											
ISLR2	57611	ucsc.edu	37	15	74427081	74427081	+	Silent	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr15:74427081C>T	ENST00000361742.3	+	4	2755	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.G662G|ISLR2_ENST00000453268.2_Silent_p.G662G|ISLR2_ENST00000419208.1_Silent_p.G662G|ISLR2_ENST00000445793.1_Silent_p.G662G|ISLR2_ENST00000565540.1_Silent_p.G662G|ISLR2_ENST00000435464.1_Silent_p.G662G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	662					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						CGGCAGGCGGCGAGGCGGGCG	0.677											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G662G													.	ISLR2	78	0			c.C1986T						.						28	34	32					15																	74427081		2193	4294	6487	SO:0001819	synonymous_variant	57611	exon4			AGGCGGCGAGGCG		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.1986C>T	15.37:g.74427081C>T		88	0	1152	34	4	NM_001130138	A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	CCDS10259.1																																																																																			.		0.677	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		T	74427081	C	T	74427081	2	4	3	1	0	0	0	0	0	0	0	1	7886	755	27	1		1	ISLR2	15	74427081	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	29620061	74427081	28104311	81	349											
CHD2	1106	broad.mit.edu	37	15	93552420	93552420	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr15:93552420G>T	ENST00000394196.4	+	35	5527	c.4459G>T	c.(4459-4461)Gac>Tac	p.D1487Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1487Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1487					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)			GAAACAGCTCGACAAACCTGA	0.493																																					p.D1487Y													.	CHD2	280	0			c.G4459T						.						121	96	105					15																	93552420		2197	4298	6495	SO:0001583	missense	1106	exon35			CAGCTCGACAAAC	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.4459G>T	15.37:g.93552420G>T	ENSP00000377747:p.Asp1487Tyr	62	0		37	3	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004410	0.93287	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000557759	D;D;T	0.90900	-2.7;-2.75;0.67	5.88	5.88	0.94601	.	0.000000	0.34802	U	0.003668	D	0.94732	0.8300	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94496	0.7705	10	0.72032	D	0.01	-26.451	20.2187	0.98312	0.0:0.0:1.0:0.0	.	1487;1487	O14647;O14647-2	CHD2_HUMAN;.	Y	1487;1487;12	ENSP00000377747:D1487Y;ENSP00000451366:D1487Y;ENSP00000451539:D12Y	ENSP00000377747:D1487Y	D	+	1	0	CHD2	91353424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	GAC	.		0.493	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		T	93552420	G	T	93552420	3	4	3	1	0	0	0	0	1	0	0	0	3332	1058	37	2	4597	2	CHD2	15	93552420	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	19125339	93552420	8978972	82	350											
IQCK	124152	hgsc.bcm.edu	37	16	19745076	19745076	+	Silent	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr16:19745076G>T	ENST00000320394.6	+	4	1002	c.303G>T	c.(301-303)ccG>ccT	p.P101P	IQCK_ENST00000541926.1_Silent_p.P101P|IQCK_ENST00000564186.1_Silent_p.P101P|IQCK_ENST00000433597.2_Silent_p.P13P	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	101										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						ACTATTTTCCGGTTTCCCATT	0.448																																					p.P101P		.											IQCK,colon,carcinoma,0,1	IQCK	0	0			c.G303T						.						143	133	136					16																	19745076		2197	4300	6497	SO:0001819	synonymous_variant	124152	exon4			TTTTCCGGTTTCC	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.303G>T	16.37:g.19745076G>T		88	0		52	3	NM_153208	B2RDU0|O43327|Q8NFF4	Silent	SNP	ENST00000320394.6	37	CCDS10580.1																																																																																			.		0.448	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		T	19745076	G	T	19745076	2	4	3	1	0	0	0	0	0	0	0	1	7840	1103	39	2		2	IQCK	16	19745076	Silent	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		19745076	70609677	83	351											
WWOX	51741	hgsc.bcm.edu	37	16	78420808	78420808	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr16:78420808G>T	ENST00000566780.1	+	6	934	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	WWOX_ENST00000408984.3_Missense_Mutation_p.V190L|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	190	Interaction with MAPT. {ECO:0000250}.				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)	p.V33L(1)|p.V190M(1)|p.V190L(1)		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)		GCTCCGTAGCGTGCAGCATTT	0.398																																					p.V190L		.											WWOX_ENST00000408984,NS,carcinoma,0,3	WWOX_ENST00000408984	0	3	Substitution - Missense(3)	endometrium(2)|upper_aerodigestive_tract(1)	c.G568T						.						118	116	117					16																	78420808		1956	4143	6099	SO:0001583	missense	51741	exon6			CGTAGCGTGCAGC	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.568G>T	16.37:g.78420808G>T	ENSP00000457230:p.Val190Leu	32	0		28	2	NM_016373	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005026	0.74932	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	T	0.25414	1.8	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.89715	3.055	0.50813	D	0.999892	P	0.49635	0.926	P	0.52109	0.69	T	0.59600	-0.7424	10	0.87932	D	0	.	13.6991	0.62597	0.0733:0.0:0.9267:0.0	.	190	Q9NZC7	WWOX_HUMAN	L	190;33	ENSP00000386161:V190L	ENSP00000299644:V33L	V	+	1	0	WWOX	76978309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.321000	0.72881	2.597000	0.87782	0.655000	0.94253	GTG	.		0.398	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			T	78420808	G	T	78420808	3	4	3	1	0	0	0	0	1	0	0	0	17463	1145	40	2	652	2	WWOX	16	78420808	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	58675732	78420808	11933945	84	352											
NEURL4	84461	hgsc.bcm.edu;broad.mit.edu	37	17	7232439	7232439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr17:7232439G>A	ENST00000399464.2	-	1	208	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q65*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q65*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	65	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					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						TGGCCCGGCTGCTGCCGCCGC	0.706																																					p.Q65X		.											.	.	.	0			c.C193T						.						15	21	19					17																	7232439		1937	4127	6064	SO:0001587	stop_gained	84461	exon1			CCGGCTGCTGCCG		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.193C>T	17.37:g.7232439G>A	ENSP00000382390:p.Gln65*	25	0		10	5	NM_001005408	Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	38	6.857370	0.97889	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	5.21	4.17	0.49024	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-15.0996	12.1075	0.53820	0.0:0.0:0.8284:0.1716	.	.	.	.	X	65	.	ENSP00000319826:Q65X	Q	-	1	0	NEURL4	7173163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.392000	0.73213	2.594000	0.87642	0.462000	0.41574	CAG	.		0.706	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7232439	G	A	7232439	4	1	3	1	0	0	0	0	0	1	0	0	10386	1328	46	3	4611	3	NEURL4	17	7232439	Nonsense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		7232439	73962771	85	353											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_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)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,NS,adenocarcinoma,+1,704	TP53_ENST00000545858	+1	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	.						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	48	0		10	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	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	.		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	3	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	345100	7577539	73617671	86	354											
EFCAB5	374786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	28268848	28268848	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr17:28268848C>A	ENST00000394835.3	+	1	226	c.34C>A	c.(34-36)Cct>Act	p.P12T	EFCAB5_ENST00000378738.3_Missense_Mutation_p.P12T|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P12T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P12T|EFCAB5_ENST00000541045.1_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	12							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						GGAACTCAGACCTGCTCAGGT	0.348																																					p.P12T		.											.	.	.	0			c.C34A						.						75	80	78					17																	28268848		1865	4117	5982	SO:0001583	missense	374786	exon1			CTCAGACCTGCTC	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.34C>A	17.37:g.28268848C>A	ENSP00000378312:p.Pro12Thr	55	0		30	7	NM_198529	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	9.211	1.030837	0.19590	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738	T;T;T;T	0.33654	2.57;2.5;1.77;1.4	4.12	-1.01	0.10169	.	.	.	.	.	T	0.23094	0.0558	N	0.22421	0.69	0.09310	N	0.999994	B	0.25904	0.137	B	0.29942	0.109	T	0.28996	-1.0026	9	0.45353	T	0.12	-0.3738	7.1311	0.25502	0.0:0.4489:0.0:0.5511	.	12	A4FU69	EFCB5_HUMAN	T	12	ENSP00000378312:P12T;ENSP00000322003:P12T;ENSP00000378309:P12T;ENSP00000368012:P12T	ENSP00000322003:P12T	P	+	1	0	EFCAB5	25292974	0.014000	0.17966	0.039000	0.18376	0.007000	0.05969	-0.190000	0.09615	-0.133000	0.11537	0.650000	0.86243	CCT	.		0.348	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		A	28268848	C	A	28268848	3	1	3	1	0	0	0	0	1	0	0	0	4952	507	18	3	36	3	EFCAB5	17	28268848	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	20691309	28268848	52926362	87	355											
FAM20A	54757	bcgsc.ca	37	17	66538202	66538202	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr17:66538202G>T	ENST00000592554.1	-	7	1755	c.1033C>A	c.(1033-1035)Ccg>Acg	p.P345T	FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	345					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TTGAGGGACGGCAGGAAGGCA	0.597																																					p.P345T													.	FAM20A	35	0			c.C1033A						.						111	89	97					17																	66538202		2203	4300	6503	SO:0001583	missense	54757	exon7			GGGACGGCAGGAA	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1033C>A	17.37:g.66538202G>T	ENSP00000468308:p.Pro345Thr	56	0		24	3	NM_017565	B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956083	0.92726	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.86744	0.6006	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88419	0.3027	9	0.87932	D	0	-31.6456	20.4301	0.99081	0.0:0.0:1.0:0.0	.	345	Q96MK3	FA20A_HUMAN	T	345	.	ENSP00000226094:P345T	P	-	1	0	FAM20A	64049797	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.834000	0.97654	0.557000	0.71058	CCG	.		0.597	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		T	66538202	G	T	66538202	3	4	3	1	0	0	0	0	1	0	0	0	5556	1203	42	3	612	3	FAM20A	17	66538202	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	38269354	66538202	14657008	88	356											
RPTOR	57521	bcgsc.ca	37	17	78811735	78811735	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr17:78811735C>A	ENST00000306801.3	+	10	1512	c.1150C>A	c.(1150-1152)Ctg>Atg	p.L384M	RPTOR_ENST00000537330.1_Missense_Mutation_p.L199M|RPTOR_ENST00000544334.2_Missense_Mutation_p.L384M|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	384					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						AGCCTGGGACCTGGCTGTTGA	0.617																																					p.L384M													.	RPTOR	122	0			c.C1150A						.						111	77	89					17																	78811735		2203	4300	6503	SO:0001583	missense	57521	exon10			TGGGACCTGGCTG		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.1150C>A	17.37:g.78811735C>A	ENSP00000307272:p.Leu384Met	37	0		22	3	NM_001163034	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203264	0.58234	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.54866	0.6;0.55	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000003	T	0.66761	0.2822	L	0.52206	1.635	0.80722	D	1	D;P;P	0.69078	0.997;0.717;0.816	D;B;B	0.75484	0.986;0.243;0.406	T	0.64041	-0.6500	10	0.36615	T	0.2	.	16.3867	0.83507	0.0:1.0:0.0:0.0	.	384;199;384	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	M	199;384;384	ENSP00000307272:L384M;ENSP00000442479:L384M	ENSP00000307272:L384M	L	+	1	2	RPTOR	76426330	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	4.003000	0.57061	2.459000	0.83118	0.557000	0.71058	CTG	.		0.617	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		A	78811735	C	A	78811735	3	1	3	1	0	0	0	0	1	0	0	0	13710	680	24	3	1188	3	RPTOR	17	78811735	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	12273533	78811735	2383475	89	357											
CDH7	1005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	63511084	63511084	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr18:63511084C>T	ENST00000397968.2	+	7	1444	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	CDH7_ENST00000323011.3_Missense_Mutation_p.R340W|CDH7_ENST00000536984.2_Missense_Mutation_p.R340W	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	340	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)	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)				TTACACGCTACGGATAGAAGC	0.423																																					p.R340W		.											.	.	.	0			c.C1018T						.						106	102	103					18																	63511084		2203	4300	6503	SO:0001583	missense	1005	exon7			ACGCTACGGATAG	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.1018C>T	18.37:g.63511084C>T	ENSP00000381058:p.Arg340Trp	60	0		43	16	NM_004361	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338222	0.60963	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.52526	0.66;0.66;0.66	5.04	3.16	0.36331	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.78049	2.395	0.22779	N	0.998744	D;D	0.89917	0.999;1.0	D;D	0.74348	0.963;0.983	T	0.61372	-0.7076	10	0.87932	D	0	.	12.8624	0.57922	0.6112:0.3888:0.0:0.0	.	340;340	F5H5X9;Q9ULB5	.;CADH7_HUMAN	W	340	ENSP00000319166:R340W;ENSP00000443030:R340W;ENSP00000381058:R340W	ENSP00000319166:R340W	R	+	1	2	CDH7	61662064	1.000000	0.71417	0.218000	0.23776	0.988000	0.76386	3.255000	0.51484	0.748000	0.32831	0.655000	0.94253	CGG	.		0.423	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63511084	C	T	63511084	3	4	3	1	0	0	0	0	1	0	0	0	3122	527	19	1	1040	1	CDH7	18	63511084	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		63511084	14566164	90	358											
PLIN4	729359	broad.mit.edu	37	19	4510665	4510665	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:4510665G>T	ENST00000301286.3	-	3	3264	c.3265C>A	c.(3265-3267)Ccg>Acg	p.P1089T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1089						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						GCAGGCTCCGGGCCTACACTG	0.677																																					p.P1089T													.	PLIN4	191	0			c.C3265A						.						18	22	20					19																	4510665		2119	4209	6328	SO:0001583	missense	729359	exon3			GCTCCGGGCCTAC	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.3265C>A	19.37:g.4510665G>T	ENSP00000301286:p.Pro1089Thr	76	0		38	3	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	g	0.139	-1.104753	0.01828	.	.	ENSG00000167676	ENST00000301286	T	0.03242	4.0	3.2	-0.299	0.12808	.	1.775850	0.04256	U	0.339449	T	0.02848	0.0085	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.46527	-0.9185	10	0.22109	T	0.4	2.1084	5.3157	0.15854	0.4413:0.0:0.5587:0.0	.	1089	Q96Q06	PLIN4_HUMAN	T	1089	ENSP00000301286:P1089T	ENSP00000301286:P1089T	P	-	1	0	PLIN4	4461665	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.469000	0.06648	-0.177000	0.10690	-0.420000	0.06012	CCG	.		0.677	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		T	4510665	G	T	4510665	3	4	3	1	0	0	0	0	1	0	0	0	12131	1232	43	3	824	3	PLIN4	19	4510665	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		4510665	54618318	91	359											
KDM4B	23030	bcgsc.ca	37	19	5041222	5041222	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:5041222C>A	ENST00000159111.4	+	5	610	c.392C>A	c.(391-393)cCg>cAg	p.P131Q	KDM4B_ENST00000381759.4_Missense_Mutation_p.P131Q|KDM4B_ENST00000536461.1_Missense_Mutation_p.P131Q	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	131					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)	p.P131L(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTTGTCTCCCCGATCTACGGG	0.552																																					p.P131Q													KDM4B_ENST00000381759,NS,carcinoma,0,2	KDM4B	120	2	Substitution - Missense(2)	endometrium(2)	c.C392A						.						126	117	120					19																	5041222		2203	4300	6503	SO:0001583	missense	23030	exon5			TCTCCCCGATCTA	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.392C>A	19.37:g.5041222C>A	ENSP00000159111:p.Pro131Gln	43	0		43	4	NM_015015	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315573	0.81469	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.69806	-0.43;-0.43;-0.43	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.948;0.999;0.995	D	0.91456	0.5185	10	0.87932	D	0	-36.1813	17.6411	0.88137	0.0:1.0:0.0:0.0	.	131;131;131	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Q	131	ENSP00000159111:P131Q;ENSP00000371178:P131Q;ENSP00000440495:P131Q	ENSP00000159111:P131Q	P	+	2	0	KDM4B	4992222	1.000000	0.71417	0.989000	0.46669	0.650000	0.38633	7.517000	0.81783	2.401000	0.81631	0.561000	0.74099	CCG	.		0.552	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		A	5041222	C	A	5041222	3	1	3	1	0	0	0	0	1	0	0	0	8156	652	23	2	402	2	KDM4B	19	5041222	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	530557	5041222	54087761	92	360											
NOTCH3	4854	hgsc.bcm.edu	37	19	15272347	15272347	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:15272347C>T	ENST00000263388.2	-	33	6167	c.6092G>A	c.(6091-6093)cGc>cAc	p.R2031H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2031					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)	p.R2031H(2)		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)			GGGGGGGCTGCGGGGCCCACT	0.687																																					p.R2031H		.											NOTCH3_ENST00000263388,NS,carcinoma,0,2	NOTCH3_ENST00000263388	0	2	Substitution - Missense(2)	endometrium(2)	c.G6092A						.						15	17	16					19																	15272347		2193	4291	6484	SO:0001583	missense	4854	exon33			GGGCTGCGGGGCC	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.6092G>A	19.37:g.15272347C>T	ENSP00000263388:p.Arg2031His	16	0		15	2	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259951	0.59321	.	.	ENSG00000074181	ENST00000263388	D	0.82526	-1.62	3.92	3.92	0.45320	.	.	.	.	.	T	0.74665	0.3746	L	0.31207	0.915	0.58432	D	0.999992	B	0.14805	0.011	B	0.06405	0.002	T	0.70905	-0.4745	9	0.37606	T	0.19	.	15.2654	0.73657	0.0:1.0:0.0:0.0	.	2031	Q9UM47	NOTC3_HUMAN	H	2031	ENSP00000263388:R2031H	ENSP00000263388:R2031H	R	-	2	0	NOTCH3	15133347	0.800000	0.28916	0.955000	0.39395	0.978000	0.69477	1.654000	0.37334	2.203000	0.70933	0.650000	0.86243	CGC	.		0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15272347	C	T	15272347	3	4	3	1	0	0	0	0	1	0	0	0	10589	768	27	1	877	1	NOTCH3	19	15272347	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	10231125	15272347	43856636	93	361											
JAK3	3718	hgsc.bcm.edu	37	19	17951082	17951082	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:17951082C>T	ENST00000527670.1	-	8	1240	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	JAK3_ENST00000534444.1_Missense_Mutation_p.S404N|JAK3_ENST00000458235.1_Missense_Mutation_p.S404N|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	404	SH2; atypical.				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)			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)	GTCCTGGGGGCTGCGGCGGAG	0.592		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																p.S404N		.		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	JAK3_ENST00000458235,colon,carcinoma,0,2	JAK3_ENST00000458235	0	0			c.G1211A						.						50	45	47					19																	17951082		2203	4300	6503	SO:0001583	missense	3718	exon9			TGGGGGCTGCGGC	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.1211G>A	19.37:g.17951082C>T	ENSP00000432511:p.Ser404Asn	28	0		24	2	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013353	0.75161	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.72394	-0.65;-0.65;-0.65	4.5	4.5	0.54988	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.82193	2.58	0.49915	D	0.999839	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.85483	0.1180	10	0.87932	D	0	-24.8509	10.7416	0.46156	0.0:0.8063:0.1937:0.0	.	404;404;404	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	N	404	ENSP00000391676:S404N;ENSP00000432511:S404N;ENSP00000436421:S404N	ENSP00000413248:S404N	S	-	2	0	JAK3	17812082	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.269000	0.65542	2.073000	0.62155	0.557000	0.71058	AGC	.		0.592	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		T	17951082	C	T	17951082	3	4	3	1	0	0	0	0	1	0	0	0	7966	797	28	3	2227	3	JAK3	19	17951082	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	2678735	17951082	41177901	94	362											
ZNF208	7757	bcgsc.ca	37	19	22154193	22154193	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:22154193G>T	ENST00000397126.4	-	4	3791	c.3643C>A	c.(3643-3645)Cac>Aac	p.H1215N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1215					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)				ATTTTCTTGTGATATCTAAGG	0.378																																					p.H1215N													ZNF208_ENST00000428290,NS,carcinoma,+2,3	ZNF208	817	0			c.C3643A						.						38	41	40					19																	22154193		2105	4247	6352	SO:0001583	missense	7757	exon4			TCTTGTGATATCT	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.3643C>A	19.37:g.22154193G>T	ENSP00000380315:p.His1215Asn	46	0		29	3	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268118	0.40095	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.86865	-2.18	2.93	2.93	0.34026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92489	0.7615	.	.	.	0.26239	N	0.97891	D	0.89917	1.0	D	0.91635	0.999	D	0.84795	0.0781	8	0.87932	D	0	.	12.591	0.56443	0.0:0.0:1.0:0.0	.	1087	O43345	ZN208_HUMAN	N	1215;1087	ENSP00000380315:H1215N	ENSP00000380315:H1215N	H	-	1	0	ZNF208	21946033	1.000000	0.71417	0.006000	0.13384	0.062000	0.15995	6.793000	0.75130	1.212000	0.43366	0.298000	0.19748	CAC	.		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22154193	G	T	22154193	3	4	3	1	0	0	0	0	1	0	0	0	17814	1290	45	3	203	3	ZNF208	19	22154193	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	4203111	22154193	36974790	95	363											
CYP2A6	1548	ucsc.edu	37	19	41355849	41355849	+	Silent	SNP	A	A	G	rs2302990		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:41355849A>G	ENST00000301141.5	-	2	237	c.217T>C	c.(217-219)Ttg>Ctg	p.L73L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	73					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)	CGGGGCCCCAAGTGAATGGTG	0.642																																					p.L73L													.	CYP2A6	69	0			c.T217C						.						63	61	62					19																	41355849		2203	4300	6503	SO:0001819	synonymous_variant	1548	exon2			GCCCCAAGTGAAT	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.217T>C	19.37:g.41355849A>G		64	5		52	8	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	CCDS12568.1																																																																																			.		0.642	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		G	41355849	A	G	41355849	2	3	3	1	0	0	0	0	0	0	0	1	4171	69	3	4		4	CYP2A6	19	41355849	Silent	SNP	A	TCGA-3X-AAVB-01A-31D-A417-09	19201656	41355849	17773134	96	364											
CEACAM5	1048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	42222257	42222257	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:42222257C>T	ENST00000221992.6	+	6	1562	c.1448C>T	c.(1447-1449)gCc>gTc	p.A483V	CEACAM5_ENST00000405816.1_Missense_Mutation_p.A483V|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.A482V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	483	Ig-like 5.				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)		AATAACTCAGCCAGTGGCCAC	0.488																																					p.A483V		.											.	.	.	0			c.C1448T						.						76	65	69					19																	42222257		2203	4300	6503	SO:0001583	missense	1048	exon6			ACTCAGCCAGTGG	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.1448C>T	19.37:g.42222257C>T	ENSP00000221992:p.Ala483Val	59	0		33	4	NM_004363	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	6.569	0.473351	0.12461	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.12147	2.71;2.71	2.39	-4.7	0.03288	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09992	0.0245	N	0.20766	0.605	0.09310	N	1	B;P	0.38551	0.032;0.636	B;P	0.46049	0.292;0.502	T	0.30736	-0.9968	9	0.22109	T	0.4	.	8.0969	0.30833	0.0:0.5496:0.0:0.4504	.	483;483	P06731;Q53G30	CEAM5_HUMAN;.	V	483;483;201	ENSP00000221992:A483V;ENSP00000385072:A483V	ENSP00000221992:A483V	A	+	2	0	CEACAM5	46914097	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.754000	0.04787	-1.107000	0.03004	-0.347000	0.07816	GCC	.		0.488	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		T	42222257	C	T	42222257	3	4	3	1	0	0	0	0	1	0	0	0	3202	739	26	3	1470	3	CEACAM5	19	42222257	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	866408	42222257	16906726	97	365											
AP2A1	160	hgsc.bcm.edu	37	19	50303257	50303257	+	Silent	SNP	C	C	T	rs201906388		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr19:50303257C>T	ENST00000359032.5	+	11	1305	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	AP2A1_ENST00000354293.5_Silent_p.Y435Y	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	435					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.Y435Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCGAGAAGTACGCCGTGGACT	0.617																																					p.Y435Y		.											AP2A1,colon,carcinoma,0,1	AP2A1	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C1305T						.						84	91	89					19																	50303257		2135	4239	6374	SO:0001819	synonymous_variant	160	exon11			GAAGTACGCCGTG	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1305C>T	19.37:g.50303257C>T		62	0		41	2	NM_130787	Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	CCDS46148.1																																																																																			0.002		0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			T	50303257	C	T	50303257	2	4	3	1	0	0	0	0	0	0	0	1	739	547	19	1		1	AP2A1	19	50303257	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	8081000	50303257	8825726	98	366											
MYBL2	4605	hgsc.bcm.edu	37	20	42315650	42315650	+	Silent	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr20:42315650C>A	ENST00000217026.4	+	5	565	c.438C>A	c.(436-438)atC>atA	p.I146I	MYBL2_ENST00000396863.4_Silent_p.I122I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	146	HTH myb-type 3. {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)	p.I146I(1)		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)			ACCGCATCATCTGCGAGGCCC	0.627																																					p.I146I		.											MYBL2,NS,carcinoma,0,1	MYBL2	0	1	Substitution - coding silent(1)	lung(1)	c.C438A						.						47	40	42					20																	42315650		2203	4300	6503	SO:0001819	synonymous_variant	4605	exon5			CATCATCTGCGAG		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.438C>A	20.37:g.42315650C>A		59	0		40	2	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	CCDS13322.1																																																																																			.		0.627	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		A	42315650	C	A	42315650	2	1	3	1	0	0	0	0	0	0	0	1	10048	903	32	3		3	MYBL2	20	42315650	Silent	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09		42315650	20709870	99	367											
ZNF334	55713	hgsc.bcm.edu	37	20	45130856	45130856	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr20:45130856C>A	ENST00000347606.4	-	5	1304	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	ZNF334_ENST00000457685.2_Missense_Mutation_p.E336D|ZNF334_ENST00000593880.1_Missense_Mutation_p.E397D	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTTGGCTTCTCTCCTCTGT	0.443																																					p.E374D		.											ZNF334,NS,carcinoma,0,1	ZNF334	0	0			c.G1122T						.						174	174	174					20																	45130856		2203	4300	6503	SO:0001583	missense	55713	exon5			TGGCTTCTCTCCT	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1122G>T	20.37:g.45130856C>A	ENSP00000255129:p.Glu374Asp	51	0		38	2	NM_018102	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195280	0.38806	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.26810	1.71;1.71	3.18	2.23	0.28157	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33177	0.0854	L	0.58302	1.8	0.31745	N	0.63535	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.51777	0.679;0.679;0.679	T	0.42699	-0.9436	9	0.87932	D	0	.	8.152	0.31145	0.0:0.8747:0.0:0.1252	.	336;374;397	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	D	336;374	ENSP00000402582:E336D;ENSP00000255129:E374D	ENSP00000255129:E374D	E	-	3	2	ZNF334	44564263	0.803000	0.28956	0.999000	0.59377	0.654000	0.38779	-0.019000	0.12546	0.660000	0.30964	-0.218000	0.12543	GAG	.		0.443	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			A	45130856	C	A	45130856	3	1	3	1	0	0	0	0	1	0	0	0	17899	912	32	3	924	3	ZNF334	20	45130856	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	2815206	45130856	17894664	100	368											
SLC25A17	10478	hgsc.bcm.edu	37	22	41173096	41173096	+	Missense_Mutation	SNP	G	G	A	rs371543259		TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr22:41173096G>A	ENST00000435456.2	-	7	774	c.641C>T	c.(640-642)gCg>gTg	p.A214V	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000402844.3_Missense_Mutation_p.A132V|SLC25A17_ENST00000542412.1_Missense_Mutation_p.A141V|SLC25A17_ENST00000544408.1_Missense_Mutation_p.A177V	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	214					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)	p.A214V(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GGTGGCAATCGCTTTGGCTAC	0.463																																					p.A214V		.											SLC25A17,caecum,carcinoma,0,1	SLC25A17	0	1	Substitution - Missense(1)	large_intestine(1)	c.C641T						.	G	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	96	80	85		641	5.7	1	22		85	0,8600		0,0,4300	no	missense	SLC25A17	NM_006358.2	64	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	214/308	41173096	3,13003	2203	4300	6503	SO:0001583	missense	10478	exon7			GCAATCGCTTTGG	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.641C>T	22.37:g.41173096G>A	ENSP00000390722:p.Ala214Val	41	0		40	2	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	G	37	6.053083	0.97241	6.81E-4	0.0	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	L	0.56340	1.77	0.80722	D	1	D;D;D	0.69078	0.986;0.997;0.978	P;P;P	0.57720	0.761;0.826;0.746	T	0.81134	-0.1071	10	0.23302	T	0.38	-8.876	20.1057	0.97893	0.0:0.0:1.0:0.0	.	141;177;214	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	V	214;132;177;141	ENSP00000390722:A214V;ENSP00000385303:A132V;ENSP00000438355:A177V;ENSP00000446471:A141V	ENSP00000385303:A132V	A	-	2	0	SLC25A17	39503042	1.000000	0.71417	0.973000	0.42090	0.961000	0.63080	7.660000	0.83776	2.827000	0.97445	0.650000	0.86243	GCG	.		0.463	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		A	41173096	G	A	41173096	3	1	3	1	0	0	0	0	1	0	0	0	14524	1087	38	1	294	1	SLC25A17	22	41173096	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		41173096	10131470	101	369											
SULT4A1	25830	broad.mit.edu	37	22	44229568	44229568	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chr22:44229568G>T	ENST00000330884.4	-	5	675	c.555C>A	c.(553-555)caC>caA	p.H185Q	SULT4A1_ENST00000249130.5_Missense_Mutation_p.H185Q|SULT4A1_ENST00000540422.1_Missense_Mutation_p.H72Q	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	185					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		AGTCCATGCGGTGCTCCCAGA	0.637																																					p.H185Q													.	SULT4A1	26	0			c.C555A						.						44	33	37					22																	44229568		2202	4299	6501	SO:0001583	missense	25830	exon5			CATGCGGTGCTCC	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.555C>A	22.37:g.44229568G>T	ENSP00000332565:p.His185Gln	40	0		17	3	NM_014351	B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426147	0.25726	.	.	ENSG00000130540	ENST00000330884;ENST00000540422;ENST00000249130	D;T;D	0.81659	-1.52;2.72;-1.52	5.01	-0.264	0.12950	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	L	0.48935	1.535	0.80722	D	1	P;D	0.69078	0.492;0.997	B;D	0.81914	0.324;0.995	T	0.76745	-0.2846	10	0.25751	T	0.34	.	10.0145	0.42006	0.5126:0.0:0.4874:0.0	.	72;185	B7Z2E1;Q9BR01	.;ST4A1_HUMAN	Q	185;72;185	ENSP00000332565:H185Q;ENSP00000439141:H72Q;ENSP00000249130:H185Q	ENSP00000249130:H185Q	H	-	3	2	SULT4A1	42560901	0.994000	0.37717	0.999000	0.59377	0.982000	0.71751	0.421000	0.21280	0.113000	0.18004	-0.355000	0.07637	CAC	.		0.637	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		T	44229568	G	T	44229568	3	4	3	1	0	0	0	0	1	0	0	0	15430	1252	44	3	311	3	SULT4A1	22	44229568	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	3056472	44229568	7074998	102	370											
PTCHD1	139411	hgsc.bcm.edu;bcgsc.ca	37	X	23411591	23411591	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chrX:23411591G>T	ENST00000379361.4	+	3	2816	c.1956G>T	c.(1954-1956)aaG>aaT	p.K652N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	652					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGGTGGCCAAGACCATGGAAA	0.428																																					p.K652N		.											.	.	.	0			c.G1956T						.						69	66	67					X																	23411591		2203	4300	6503	SO:0001583	missense	139411	exon3			GGCCAAGACCATG	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1956G>T	X.37:g.23411591G>T	ENSP00000368666:p.Lys652Asn	114	0		75	4	NM_173495	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851665	0.51270	.	.	ENSG00000165186	ENST00000379361	D	0.85339	-1.97	5.48	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.86573	0.5965	L	0.58810	1.83	0.48288	D	0.999629	P	0.47106	0.89	P	0.51918	0.684	D	0.84752	0.0757	10	0.29301	T	0.29	.	13.7385	0.62833	0.0776:0.0:0.9224:0.0	.	652	Q96NR3	PTHD1_HUMAN	N	652	ENSP00000368666:K652N	ENSP00000368666:K652N	K	+	3	2	PTCHD1	23321512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.630000	0.61297	2.269000	0.75478	0.600000	0.82982	AAG	.		0.428	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		T	23411591	G	T	23411591	3	4	3	1	0	0	0	0	1	0	0	0	12774	933	33	3	1966	3	PTCHD1	23	23411591	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09		23411591	131858969	103	371											
GAGE12J	729396	broad.mit.edu	37	X	49179682	49179682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chrX:49179682C>T	ENST00000442437.2	+	2	106	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_001098406.1	NP_001091876.1	A6NER3	GG12J_HUMAN	G antigen 12J	4										kidney(2)|large_intestine(2)|lung(1)|prostate(1)	6	Ovarian(276;0.236)					TATGAGTTGGCGAGGAAGATC	0.463																																					p.R4X													.	GAGE12J	6	0			c.C10T						.						202	135	160					X																	49179682		1468	2541	4009	SO:0001587	stop_gained	729396	exon2			AGTTGGCGAGGAA		CCDS43939.1	Xp11.23	2008-02-05	2007-07-23	2007-07-23	ENSG00000224659	ENSG00000224659			17778	protein-coding gene	gene with protein product		300733	"G antigen 11"	GAGE11			Standard	NM_001098406		Approved	OTTHUMG00000024137		A6NER3	OTTHUMG00000024137	ENST00000442437.2:c.10C>T	X.37:g.49179682C>T	ENSP00000409832:p.Arg4*	888	0		597	8	NM_001098406		Nonsense_Mutation	SNP	ENST00000442437.2	37	CCDS43939.1	.	.	.	.	.	.	.	.	.	.	.	13.68	2.308079	0.40895	.	.	ENSG00000224659	ENST00000442437	.	.	.	0.955	-1.91	0.07641	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.7989	0.05409	0.31:0.4164:0.2735:0.0	.	.	.	.	X	4	.	ENSP00000409832:R4X	R	+	1	2	GAGE12J	49066626	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.591000	0.05753	-1.219000	0.02597	0.181000	0.17075	CGA	.		0.463	GAGE12J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060817.1	NM_001098406		T	49179682	C	T	49179682	4	4	3	1	0	0	0	0	0	1	0	0	6212	760	27	1	12	1	GAGE12J	23	49179682	Nonsense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	25768091	49179682	106090878	104	372											
STAG2	10735	hgsc.bcm.edu	37	X	123220534	123220534	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chrX:123220534G>A	ENST00000371160.1	+	30	3481	c.3191G>A	c.(3190-3192)aGc>aAc	p.S1064N	STAG2_ENST00000371145.3_Missense_Mutation_p.S1064N|STAG2_ENST00000354548.5_Missense_Mutation_p.S995N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S1064N|STAG2_ENST00000371157.3_Missense_Mutation_p.S1064N|STAG2_ENST00000371144.3_Missense_Mutation_p.S1064N	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1064					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						AGTGGAATCAGCAGCCGGGGG	0.453																																					p.S1064N		.											.	.	.	0			c.G3191A						.						146	124	131					X																	123220534		2203	4300	6503	SO:0001583	missense	10735	exon30			GAATCAGCAGCCG	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.3191G>A	X.37:g.123220534G>A	ENSP00000360202:p.Ser1064Asn	92	0		80	4	NM_001042749	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630916	0.46944	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.33438	1.81;1.43;1.41;1.41;1.81;1.41	4.93	4.93	0.64822	.	0.233528	0.45867	D	0.000340	T	0.35248	0.0925	M	0.63428	1.95	0.45194	D	0.998207	B;B	0.11235	0.004;0.003	B;B	0.17979	0.02;0.013	T	0.13335	-1.0513	10	0.38643	T	0.18	-5.8954	17.6226	0.88086	0.0:0.0:1.0:0.0	.	1064;1064	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	N	1064;995;1064;1064;1064;1064	ENSP00000218089:S1064N;ENSP00000346555:S995N;ENSP00000360202:S1064N;ENSP00000360199:S1064N;ENSP00000360187:S1064N;ENSP00000360186:S1064N	ENSP00000218089:S1064N	S	+	2	0	STAG2	123048215	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.249000	0.65427	2.177000	0.69029	0.436000	0.28706	AGC	.		0.453	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123220534	G	A	123220534	3	1	3	1	0	0	0	0	1	0	0	0	15290	971	34	3	3301	3	STAG2	23	123220534	Missense_Mutation	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	74040852	123220534	32050026	105	373											
ELF4	2000	bcgsc.ca	37	X	129205393	129205393	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chrX:129205393G>T	ENST00000308167.5	-	6	913	c.534C>A	c.(532-534)atC>atA	p.I178I	ELF4_ENST00000335997.7_Splice_Site_p.I178I	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						TGGTCTTCCGGACTATGAGGG	0.557			T	ERG	AML																																p.I178I				Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	ELF4	67	0			c.C534A						.						124	88	100					X																	129205393		2203	4300	6503	SO:0001630	splice_region_variant	2000	exon6			CTTCCGGACTATG	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.533-1C>A	X.37:g.129205393G>T		19	0		8	3	NM_001421		Silent	SNP	ENST00000308167.5	37	CCDS14617.1																																																																																			.		0.557	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	Silent	T	129205393	G	T	129205393	5	4	3	1	0	0	0	0	0	0	1	0	5072	1188	41	3	1473	3	ELF4	23	129205393	Splice_Site	SNP	G	TCGA-3X-AAVB-01A-31D-A417-09	5984859	129205393	26065167	106	374											
HTATSF1	27336	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	135593803	135593803	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chrX:135593803delA	ENST00000218364.4	+	9	2073	c.1899delA	c.(1897-1899)acafs	p.T633fs	HTATSF1_ENST00000535601.1_Frame_Shift_Del_p.T633fs	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	633	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)					AGGAGGATACATATGAAAAAG	0.408																																					p.T633fs		.											.	.	.	0			c.1898delC						.						109	109	109					X																	135593803		2203	4300	6503	SO:0001589	frameshift_variant	27336	exon10			GGATACATATGAA	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.1899delA	X.37:g.135593803delA	ENSP00000218364:p.Thr633fs	118	0		65	17	NM_001163280	D3DWG9|Q59G06|Q99730	Frame_Shift_Del	DEL	ENST00000218364.4	37	CCDS14657.1																																																																																			.		0.408	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		-	135593803	A	-	135593803	7	5	3	1	0	1	0	1	0	0	0	0	7460	204	8	0	1933	0	HTATSF1	23	135593803	Frame_Shift_Del	DEL	A	TCGA-3X-AAVB-01A-31D-A417-09	6388410	135593803	19676757	107	375											
FLNA	2316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	153595859	153595859	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVB-01A-31D-A417-09	TCGA-3X-AAVB-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3b4557a5-53c5-475e-81e1-945411375b6f	d7040563-8449-489d-9155-a19f0819a6c7	g.chrX:153595859C>A	ENST00000369850.3	-	5	1010	c.774G>T	c.(772-774)atG>atT	p.M258I	FLNA_ENST00000344736.4_Missense_Mutation_p.M258I|FLNA_ENST00000422373.1_Missense_Mutation_p.M258I|FLNA_ENST00000360319.4_Missense_Mutation_p.M258I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	258	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)					ACAGGTAGGTCATGACAGAGT	0.622																																					p.M258I		.											.	.	.	0			c.G774T						.						78	84	82					X																	153595859		2198	4300	6498	SO:0001583	missense	2316	exon5			GTAGGTCATGACA	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.774G>T	X.37:g.153595859C>A	ENSP00000358866:p.Met258Ile	114	0		87	22	NM_001456	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156071	0.57259	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.23	5.23	0.72850	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96430	0.8835	L	0.54908	1.71	0.80722	D	1	D;D	0.67145	0.985;0.996	D;D	0.81914	0.98;0.995	D	0.97131	0.9818	10	0.87932	D	0	.	17.9131	0.88940	0.0:1.0:0.0:0.0	.	258;258	P21333-2;P21333	.;FLNA_HUMAN	I	258;231;258;258;258	ENSP00000353467:M258I;ENSP00000416926:M258I;ENSP00000358866:M258I;ENSP00000358863:M258I	ENSP00000358863:M258I	M	-	3	0	FLNA	153249053	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.809000	0.86057	2.163000	0.67991	0.597000	0.82753	ATG	.		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153595859	C	A	153595859	3	1	3	1	0	0	0	0	1	0	0	0	5955	826	29	3	7345	3	FLNA	23	153595859	Missense_Mutation	SNP	C	TCGA-3X-AAVB-01A-31D-A417-09	18002056	153595859	1674701	108	376											
CLSTN1	22883	broad.mit.edu;bcgsc.ca	37	1	9811620	9811620	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:9811620G>A	ENST00000377298.4	-	5	1352	c.560C>T	c.(559-561)gCc>gTc	p.A187V	CLSTN1_ENST00000361311.4_Missense_Mutation_p.A177V|CLSTN1_ENST00000377288.3_Missense_Mutation_p.A187V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		GGCATCCACGGCCTCCACCCT	0.527																																					p.A187V													.	CLSTN1	88	0			c.C560T						.						114	101	106					1																	9811620		2203	4300	6503	SO:0001583	missense	22883	exon5			TCCACGGCCTCCA	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.560C>T	1.37:g.9811620G>A	ENSP00000366513:p.Ala187Val	52	0		28	3	NM_001009566	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	36	5.668902	0.96754	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.84644	0.0697	10	0.87932	D	0	-50.7651	20.2985	0.98592	0.0:0.0:1.0:0.0	.	187;177;187	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	V	187;177;7;187;187	ENSP00000366513:A187V;ENSP00000354997:A177V;ENSP00000401934:A7V;ENSP00000366502:A187V	ENSP00000354997:A177V	A	-	2	0	CLSTN1	9734207	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	9.835000	0.99442	2.793000	0.96121	0.655000	0.94253	GCC	.		0.527	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			A	9811620	G	A	9811620	3	1	4	1	0	0	0	0	1	0	0	0	3568	1203	42	3	2445	3	CLSTN1	1	9811620	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09		9811620	239439001	1	377											
KIF1B	23095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	10434992	10434992	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:10434992G>A	ENST00000377086.1	+	47	5379	c.5177G>A	c.(5176-5178)cGt>cAt	p.R1726H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1680H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1726H			O60333	KIF1B_HUMAN	kinesin family member 1B	1726	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GTTGTCGTCCGTCGGCCTTAT	0.453																																					p.R1680H		.											.	.	.	0			c.G5039A						.						134	116	122					1																	10434992		2203	4300	6503	SO:0001583	missense	23095	exon45			TCGTCCGTCGGCC	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.5177G>A	1.37:g.10434992G>A	ENSP00000366290:p.Arg1726His	63	0		53	27	NM_015074	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.335717	0.95758	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.76578	-1.03;-1.03;-1.03	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;0.989	D	0.92360	0.5896	10	0.87932	D	0	.	19.1358	0.93428	0.0:0.0:1.0:0.0	.	1712;1686;1726;1700;1726;1680	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1726;1680;1726;1726	ENSP00000263934:R1680H;ENSP00000366290:R1726H;ENSP00000366284:R1726H	ENSP00000263934:R1680H	R	+	2	0	KIF1B	10357579	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.864000	0.99589	2.501000	0.84356	0.655000	0.94253	CGT	.		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10434992	G	A	10434992	3	1	4	1	0	0	0	0	1	0	0	0	8311	1145	40	1	6702	1	KIF1B	1	10434992	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	623372	10434992	238815629	2	378											
ABCA4	24	ucsc.edu;bcgsc.ca	37	1	94486813	94486813	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:94486813C>T	ENST00000370225.3	-	35	5087	c.5001G>A	c.(4999-5001)caG>caA	p.Q1667Q	ABCA4_ENST00000536513.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1667					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)		TCTCTGAGAGCTGCTCCTTGG	0.557																																					p.Q1667Q													.	ABCA4	275	0			c.G5001A						.						205	196	199					1																	94486813		2203	4300	6503	SO:0001819	synonymous_variant	24	exon35			TGAGAGCTGCTCC	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.5001G>A	1.37:g.94486813C>T		44	0		24	4	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																			.		0.557	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94486813	C	T	94486813	2	4	4	1	0	0	0	0	0	0	0	1	34	796	28	3		3	ABCA4	1	94486813	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	84051821	94486813	154763808	3	379											
MOV10	4343	hgsc.bcm.edu	37	1	113241378	113241378	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:113241378G>T	ENST00000413052.2	+	17	2940	c.2550G>T	c.(2548-2550)gaG>gaT	p.E850D	MOV10_ENST00000369644.1_Missense_Mutation_p.E794D|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.E850D|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.E850D	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	850					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTGACAGGGAGCTTCGAGGAC	0.537																																					p.E850D		.											.	.	.	0			c.G2550T						.						305	273	284					1																	113241378		2203	4300	6503	SO:0001583	missense	4343	exon17			CAGGGAGCTTCGA	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2550G>T	1.37:g.113241378G>T	ENSP00000399797:p.Glu850Asp	27	0		24	3	NM_020963	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848246	0.32699	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.85	-1.58	0.08479	.	1.149140	0.06086	N	0.662685	T	0.62122	0.2402	N	0.04387	-0.21	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.53704	-0.8401	10	0.13108	T	0.6	-12.6985	4.6835	0.12747	0.5357:0.1729:0.2914:0.0	.	850	Q9HCE1	MOV10_HUMAN	D	850;850;794;850;788	ENSP00000399797:E850D;ENSP00000358659:E850D;ENSP00000358658:E794D;ENSP00000350028:E850D	ENSP00000350028:E850D	E	+	3	2	MOV10	113042901	0.600000	0.26899	0.999000	0.59377	0.981000	0.71138	-0.508000	0.06344	0.095000	0.17434	0.313000	0.20887	GAG	.		0.537	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		T	113241378	G	T	113241378	3	4	4	1	0	0	0	0	1	0	0	0	9756	962	34	3	2612	3	MOV10	1	113241378	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	18754565	113241378	136009243	4	380											
NOTCH2	4853	hgsc.bcm.edu	37	1	120539668	120539668	+	Missense_Mutation	SNP	T	T	A	rs200464440		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	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		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2_ENST00000369342,NS,carcinoma,0,2	NOTCH2_ENST00000369342	0	0			c.A703T						.						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	32	0		25	3	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	.		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	10587	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	7298290	120539668	128710953	5	381											
HRNR	388697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152191793	152191793	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:152191793C>G	ENST00000368801.2	-	3	2387	c.2312G>C	c.(2311-2313)gGa>gCa	p.G771A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	771					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)			GTGGCCAGATCCAGACCCTTG	0.587																																					p.G771A		.											.	.	.	0			c.G2312C						.						85	88	87					1																	152191793		2203	4300	6503	SO:0001583	missense	388697	exon3			CCAGATCCAGACC	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.2312G>C	1.37:g.152191793C>G	ENSP00000357791:p.Gly771Ala	41	0		55	27	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.562	0.664844	0.14710	.	.	ENSG00000197915	ENST00000368801	T	0.06294	3.32	2.84	2.84	0.33178	.	.	.	.	.	T	0.04634	0.0126	L	0.58101	1.795	0.09310	N	1	D	0.56968	0.978	P	0.55011	0.766	T	0.18745	-1.0327	9	0.08599	T	0.76	.	9.3025	0.37853	0.0:1.0:0.0:0.0	.	771	Q86YZ3	HORN_HUMAN	A	771	ENSP00000357791:G771A	ENSP00000357791:G771A	G	-	2	0	HRNR	150458417	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.407000	0.21049	1.592000	0.50018	0.508000	0.49915	GGA	.		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152191793	C	G	152191793	3	3	4	1	0	0	0	0	1	0	0	0	7386	855	30	5	6244	5	HRNR	1	152191793	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	31652125	152191793	97058828	6	382											
LCE4A	199834	hgsc.bcm.edu	37	1	152681695	152681696	+	Missense_Mutation	DNP	TG	TG	CT	rs74871420|rs113617356|rs79268808		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	TG	TG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:152681695_152681696TG>CT	ENST00000368777.1	+	2	400_401	c.144_145TG>CT	c.(142-147)tgTGgt>tgCTgt	p.G49C	LCE4A_ENST00000335535.3_Missense_Mutation_p.G49C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	49	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTGGGGGCTGTGGTTGCTGCAG	0.579																																					p.G49C		.											.	.	.	0			c.G145T						.																																			SO:0001583	missense	199834	exon1			GGCTGTGGTTGCT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681695_152681696delinsCT	ENSP00000357766:p.Gly49Cys	33	0		34	7	NM_178356	Q14D97	Missense_Mutation	DNP	ENST00000368777.1	37	CCDS1022.1																																																																																			.		0.579	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		CT	152681696	TG	CT	152681695	3	2	4	1	0	0	0	0	1	0	0	0	8702	1702	59	4	146	4	LCE4A	1	152681695	Missense_Mutation	DNP	TG	TCGA-3X-AAVC-01A-21D-A417-09	489902	152681695	96568926	7	383											
ROBLD3	28956	hgsc.bcm.edu;bcgsc.ca	37	1	156024684	156024684	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:156024684C>T	ENST00000368305.4	+	1	142	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000368304.5_Silent_p.L2L|LAMTOR2_ENST00000368302.3_Silent_p.L2L|UBQLN4_ENST00000472638.1_5'Flank|LAMTOR2_ENST00000489664.1_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	2					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CGTAGGCATGCTGCGCCCCAA	0.667																																					p.L2L		.											.	.	.	0			c.C4T						.						41	35	37					1																	156024684		2203	4300	6503	SO:0001819	synonymous_variant	28956	exon1			GGCATGCTGCGCC	BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein"	610389	"roadblock domain containing 3"	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.4C>T	1.37:g.156024684C>T		48	0		61	4	NM_001145264	Q5VY97|Q5VY98|Q5VY99	Silent	SNP	ENST00000368305.4	37	CCDS1128.1																																																																																			.		0.667	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		T	156024684	C	T	156024684	2	4	4	1	0	0	0	0	0	0	0	1	13557	796	28	3		3	ROBLD3	1	156024684	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	3342989	156024684	93225937	8	384											
LMNA	4000	hgsc.bcm.edu;broad.mit.edu	37	1	156106775	156106775	+	Missense_Mutation	SNP	C	C	T	rs57920071		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:156106775C>T	ENST00000368300.4	+	8	1656	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	LMNA_ENST00000368301.2_Missense_Mutation_p.R482W|LMNA_ENST00000361308.4_Missense_Mutation_p.R482W|LMNA_ENST00000368299.3_Missense_Mutation_p.R482W|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.R383W|LMNA_ENST00000347559.2_Missense_Mutation_p.R482W|LMNA_ENST00000448611.2_Missense_Mutation_p.R370W|LMNA_ENST00000392353.3_Missense_Mutation_p.R401W|LMNA_ENST00000368297.1_Missense_Mutation_p.R401W	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	482	LTD.|Tail.		R -> L (in FPLD2). {ECO:0000269|PubMed:10655060}.|R -> Q (in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs11575937). {ECO:0000269|PubMed:10587585, ECO:0000269|PubMed:10739751}.|R -> W (in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; decreases binding affinity for DNA; increases sensitivity to oxidative stress). {ECO:0000269|PubMed:10655060, ECO:0000269|PubMed:10739751}.		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)	p.R482W(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTGACTTACCGGTTCCCACC	0.617									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																												p.R482W		.											LMNA,NS,carcinoma,0,1	LMNA	0	1	Substitution - Missense(1)	kidney(1)	c.C1444T	GRCh37	CM000520	LMNA	M	rs57920071	.						55	53	53					1																	156106775		2203	4300	6503	SO:0001583	missense	4000	exon8	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	ACTTACCGGTTCC	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.1444C>T	1.37:g.156106775C>T	ENSP00000357283:p.Arg482Trp	35	0		52	3	NM_170707	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416421	0.83449	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.4	4.46	0.54185	Intermediate filament, C-terminal (1);	0.000000	0.50627	D	0.000101	D	0.97164	0.9073	L	0.41492	1.28	0.51012	A	0.999907	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.998;0.999;0.997;0.999;0.998	D;D;P;D;P;P;P;P	0.63957	0.92;0.914;0.832;0.914;0.867;0.832;0.791;0.741	D	0.98132	1.0431	9	0.87932	D	0	.	10.8566	0.46802	0.3429:0.6571:0.0:0.0	rs57920071	138;370;482;383;401;482;482;482	B4DFR3;E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;.;LMNA_HUMAN;.;.	W	482;482;482;482;482;370;401;383;401;108	ENSP00000357284:R482W;ENSP00000292304:R482W;ENSP00000355292:R482W;ENSP00000357283:R482W;ENSP00000357282:R482W;ENSP00000395597:R370W;ENSP00000357280:R401W;ENSP00000421821:R383W;ENSP00000376164:R401W;ENSP00000424977:R108W	ENSP00000292304:R482W	R	+	1	2	LMNA	154373399	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.923000	0.56469	1.438000	0.47492	0.655000	0.94253	CGG	.		0.617	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		T	156106775	C	T	156106775	3	4	4	1	0	0	0	0	1	0	0	0	8878	643	23	1	1474	1	LMNA	1	156106775	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	82091	156106775	93143846	9	385											
PRCC	5546	hgsc.bcm.edu;bcgsc.ca	37	1	156756845	156756845	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:156756845T>A	ENST00000271526.4	+	3	1234	c.962T>A	c.(961-963)cTt>cAt	p.L321H	PRCC_ENST00000353233.3_Missense_Mutation_p.L321H|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	321					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)					AATGCCCCCCTTGAATTCAAG	0.567			T	TFE3	papillary renal																																p.L321H		.		Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	.	.	.	0			c.T962A						.						109	117	114					1																	156756845		2203	4300	6503	SO:0001583	missense	5546	exon3			CCCCCCTTGAATT	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.962T>A	1.37:g.156756845T>A	ENSP00000271526:p.Leu321His	36	0		65	4	NM_005973	A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	CCDS1157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.438976|4.438976	0.83885|0.83885	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188|ENST00000454659	T;T|.	0.57436|.	0.4;0.99|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.46151|0.46151	0.1378|0.1378	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.987;0.998|.	T|T	0.47649|0.47649	-0.9101|-0.9101	10|7	0.62326|0.37606	D|T	0.03|0.19	-15.1937|-15.1937	14.9249|14.9249	0.70868|0.70868	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	321;321|.	A6NG79;Q92733|.	.;PRCC_HUMAN|.	H|M	321;321;265;60|55	ENSP00000271526:L321H;ENSP00000339300:L321H|.	ENSP00000271526:L321H|ENSP00000403560:L55M	L|L	+|+	2|1	0|2	PRCC|PRCC	155023469|155023469	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	6.726000|6.726000	0.74758|0.74758	2.203000|2.203000	0.70933|0.70933	0.533000|0.533000	0.62120|0.62120	CTT|TTG	.		0.567	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		A	156756845	T	A	156756845	3	1	4	1	0	0	0	0	1	0	0	0	12489	1609	56	5	972	5	PRCC	1	156756845	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	650070	156756845	92493776	10	386											
USP21	27005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	161130441	161130441	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:161130441C>T	ENST00000289865.8	+	2	232	c.11C>T	c.(10-12)gCc>gTc	p.A4V	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.A4V|USP21_ENST00000368002.3_Missense_Mutation_p.A4V	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	4					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)			ATGCCCCAGGCCTCTGAGCAC	0.602																																					p.A4V		.											.	.	.	0			c.C11T						.						48	50	49					1																	161130441		2203	4300	6503	SO:0001583	missense	27005	exon2			CCCAGGCCTCTGA	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.11C>T	1.37:g.161130441C>T	ENSP00000289865:p.Ala4Val	28	0		43	15	NM_012475	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737179	0.49045	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.18960	2.35;2.35;2.18	4.94	4.94	0.65067	.	0.206143	0.33364	N	0.004997	T	0.04407	0.0121	N	0.08118	0	0.34209	D	0.674045	B	0.32781	0.384	B	0.23716	0.048	T	0.15954	-1.0419	10	0.87932	D	0	.	10.6444	0.45610	0.0:0.9115:0.0:0.0885	.	4	Q9UK80	UBP21_HUMAN	V	4	ENSP00000356981:A4V;ENSP00000289865:A4V;ENSP00000356980:A4V	ENSP00000289865:A4V	A	+	2	0	USP21	159397065	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.021000	0.49651	2.560000	0.86352	0.561000	0.74099	GCC	.		0.602	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			T	161130441	C	T	161130441	3	4	4	1	0	0	0	0	1	0	0	0	17102	739	26	3	13	3	USP21	1	161130441	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	4373596	161130441	88120180	11	387											
FCGR3B	2214	hgsc.bcm.edu	37	1	161595956	161595956	+	Intron	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:161595956C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.V186M|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V222M|FCGR3B_ENST00000367964.2_Missense_Mutation_p.V186M			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)	GTGATGTTCACAGTCTCTGAA	0.502																																					p.V222M		.											.	.	.	0			c.G664A						.						86	94	91					1																	161595956		2200	4300	6500	SO:0001627	intron_variant	2215	exon4			TGTTCACAGTCTC	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+4201G>A	1.37:g.161595956C>T		75	0		79	4	NM_001244753	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	13.72|13.72	2.320199|2.320199	0.41096|0.41096	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000421702|ENST00000367964;ENST00000294800;ENST00000531221	.|T;T;T	.|0.15952	.|2.38;2.38;2.38	2.39|2.39	-4.38|-4.38	0.03622|0.03622	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|1.110400	.|0.06937	.|N	.|0.812044	T|T	0.05547|0.05547	0.0146|0.0146	M|M	0.75150|0.75150	2.29|2.29	0.09310|0.09310	N|N	1|1	.|B	.|0.33583	.|0.418	.|B	.|0.31016	.|0.123	T|T	0.27262|0.27262	-1.0079|-1.0079	5|10	.|0.66056	.|D	.|0.02	.|.	1.1009|1.1009	0.01683|0.01683	0.3788:0.2996:0.1869:0.1347|0.3788:0.2996:0.1869:0.1347	.|.	.|186	.|O75015	.|FCG3B_HUMAN	Y|M	206|186;186;222	.|ENSP00000356941:V186M;ENSP00000294800:V186M;ENSP00000433642:V222M	.|ENSP00000294800:V186M	C|V	-|-	2|1	0|0	FCGR3B|FCGR3B	159862580|159862580	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.253000|0.253000	0.25986|0.25986	0.054000|0.054000	0.14205|0.14205	-1.119000|-1.119000	0.02958|0.02958	-0.557000|-0.557000	0.04193|0.04193	TGT|GTG	.		0.502	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		T	161595956	C	T	161595956	1	4	4	0	1	0	0	0	0	0	0	0	5807	478	17	3		3	FCGR3B	1	161595956	Intron	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	465515	161595956	87654665	12	388											
RXRG	6258	hgsc.bcm.edu;bcgsc.ca	37	1	165414094	165414094	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:165414094C>T	ENST00000359842.5	-	1	339	c.37G>A	c.(37-39)Gca>Aca	p.A13T		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	13	Modulating. {ECO:0000250}.				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)	CCATAGCCTGCGGGAAACTTC	0.443																																					p.A13T		.											.	.	.	0			c.G37A						.						150	129	136					1																	165414094		2203	4300	6503	SO:0001583	missense	6258	exon1			AGCCTGCGGGAAA	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.37G>A	1.37:g.165414094C>T	ENSP00000352900:p.Ala13Thr	84	0		77	4	NM_006917	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	4.062	0.009369	0.07912	.	.	ENSG00000143171	ENST00000359842	D	0.92348	-3.02	5.3	-2.46	0.06461	.	1.785420	0.02385	N	0.079181	T	0.60248	0.2254	N	0.11560	0.145	0.25868	N	0.983744	B;B	0.14805	0.011;0.0	B;B	0.06405	0.002;0.0	T	0.67612	-0.5626	9	0.02654	T	1	.	6.2582	0.20885	0.1708:0.5935:0.0:0.2357	.	13;13	B2R7C0;P48443	.;RXRG_HUMAN	T	13	ENSP00000352900:A13T	ENSP00000352900:A13T	A	-	1	0	RXRG	163680718	0.999000	0.42202	0.705000	0.30386	0.970000	0.65996	0.416000	0.21198	-0.314000	0.08716	0.561000	0.74099	GCA	.		0.443	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		T	165414094	C	T	165414094	3	4	4	1	0	0	0	0	1	0	0	0	13810	768	27	1	1451	1	RXRG	1	165414094	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	3818138	165414094	83836527	13	389											
APOBEC4	403314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	183617622	183617622	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:183617622A>T	ENST00000308641.4	-	2	566	c.295T>A	c.(295-297)Ttt>Att	p.F99I	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)	99					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						TTCATTTCAAAGAGCATTGAT	0.398																																					p.F99I		.											.	.	.	0			c.T295A						.						149	147	148					1																	183617622		2203	4300	6503	SO:0001583	missense	403314	exon2			TTTCAAAGAGCAT	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.295T>A	1.37:g.183617622A>T	ENSP00000310622:p.Phe99Ile	37	0		39	5	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619574	0.46736	.	.	ENSG00000173627	ENST00000308641	T	0.63744	-0.06	5.28	5.28	0.74379	APOBEC-like, N-terminal (1);	0.096682	0.44688	D	0.000423	T	0.69691	0.3139	L	0.34521	1.04	0.42513	D	0.992975	D	0.76494	0.999	D	0.75484	0.986	T	0.70898	-0.4747	10	0.44086	T	0.13	-16.8727	14.8743	0.70483	1.0:0.0:0.0:0.0	.	99	Q8WW27	ABEC4_HUMAN	I	99	ENSP00000310622:F99I	ENSP00000310622:F99I	F	-	1	0	APOBEC4	181884245	0.997000	0.39634	0.527000	0.27925	0.069000	0.16628	4.379000	0.59575	1.996000	0.58369	0.533000	0.62120	TTT	.		0.398	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		T	183617622	A	T	183617622	3	4	4	1	0	0	0	0	1	0	0	0	796	72	3	5	812	5	APOBEC4	1	183617622	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	18203528	183617622	65632999	14	390											
NAV1	89796	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	201618049	201618049	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:201618049C>G	ENST00000367296.4	+	1	673	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	NAV1_ENST00000367300.3_Missense_Mutation_p.L85V|NAV1_ENST00000367302.1_Missense_Mutation_p.L98V|NAV1_ENST00000295624.6_Missense_Mutation_p.L85V|NAV1_ENST00000367297.4_Missense_Mutation_p.L85V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	85					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						CGCCTCCAACCTGCGCAAGCA	0.642																																					p.L85V		.											.	.	.	0			c.C253G						.						24	27	26					1																	201618049		2199	4299	6498	SO:0001583	missense	89796	exon1			TCCAACCTGCGCA	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.253C>G	1.37:g.201618049C>G	ENSP00000356265:p.Leu85Val	45	0		36	12	NM_020443	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508591	0.64410	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.89	3.0	0.34707	.	0.000000	0.64402	D	0.000018	T	0.38825	0.1055	L	0.59436	1.845	0.36091	D	0.843488	B	0.12013	0.005	B	0.17433	0.018	T	0.43556	-0.9384	10	0.87932	D	0	-8.9877	10.2403	0.43308	0.0:0.7879:0.1359:0.0763	.	85	Q8NEY1-3	.	V	98;85;85;85;85	ENSP00000356271:L98V;ENSP00000356265:L85V;ENSP00000295624:L85V;ENSP00000356266:L85V;ENSP00000356269:L85V	ENSP00000295624:L85V	L	+	1	2	NAV1	199884672	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.836000	0.62789	0.462000	0.27095	0.313000	0.20887	CTG	.		0.642	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		G	201618049	C	G	201618049	3	3	4	1	0	0	0	0	1	0	0	0	10221	680	24	5	255	5	NAV1	1	201618049	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	18000427	201618049	47632572	15	391											
CR2	1380	hgsc.bcm.edu	37	1	207643300	207643300	+	Silent	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:207643300C>A	ENST00000367058.3	+	6	1267	c.1078C>A	c.(1078-1080)Cga>Aga	p.R360R	CR2_ENST00000458541.2_Silent_p.R360R|CR2_ENST00000367057.3_Silent_p.R360R|CR2_ENST00000367059.3_Silent_p.R360R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	360	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						CCTAAGAGGCCGAATGGTATC	0.498																																					p.R360R		.											CR2,NS,carcinoma,0,1	CR2	0	0			c.C1078A						.						139	124	129					1																	207643300		2203	4300	6503	SO:0001819	synonymous_variant	1380	exon6			AGAGGCCGAATGG	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.1078C>A	1.37:g.207643300C>A		62	0		67	3	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	CCDS1478.1																																																																																			.		0.498	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207643300	C	A	207643300	2	1	4	1	0	0	0	0	0	0	0	1	3849	644	23	2		2	CR2	1	207643300	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	6025251	207643300	41607321	16	392											
FAM71A	149647	hgsc.bcm.edu	37	1	212798867	212798867	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:212798867G>T	ENST00000294829.3	+	1	1079	c.648G>T	c.(646-648)caG>caT	p.Q216H	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	216						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)		AGGGGGATCAGGACCAGGTCA	0.547																																					p.Q216H		.											.	.	.	0			c.G648T						.						70	69	69					1																	212798867		2203	4300	6503	SO:0001583	missense	149647	exon1			GGATCAGGACCAG		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.648G>T	1.37:g.212798867G>T	ENSP00000294829:p.Gln216His	40	0		38	4	NM_153606	Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363160	0.41902	.	.	ENSG00000162771	ENST00000294829	T	0.04194	3.68	4.12	1.09	0.20402	.	0.417472	0.17620	N	0.167767	T	0.09335	0.0230	L	0.55743	1.74	0.21878	N	0.999494	D	0.69078	0.997	P	0.56865	0.808	T	0.16512	-1.0400	10	0.52906	T	0.07	-11.0969	4.0071	0.09607	0.2197:0.1968:0.5835:0.0	.	216	Q8IYT1	FA71A_HUMAN	H	216	ENSP00000294829:Q216H	ENSP00000294829:Q216H	Q	+	3	2	FAM71A	210865490	0.737000	0.28175	0.379000	0.26080	0.715000	0.41141	0.746000	0.26275	0.129000	0.18514	0.563000	0.77884	CAG	.		0.547	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		T	212798867	G	T	212798867	3	4	4	1	0	0	0	0	1	0	0	0	5629	991	35	3	650	3	FAM71A	1	212798867	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	5155567	212798867	36451754	17	393											
CHRM3	1131	hgsc.bcm.edu	37	1	240070932	240070932	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr1:240070932G>A	ENST00000255380.4	+	5	960	c.181G>A	c.(181-183)Gga>Aga	p.G61R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	61					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.G61*(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)	TGACCCTCTGGGAGGTCATAC	0.537																																					p.G61R		.											CHRM3,NS,carcinoma,0,1	CHRM3	0	1	Substitution - Nonsense(1)	lung(1)	c.G181A						.						117	106	110					1																	240070932		2203	4300	6503	SO:0001583	missense	1131	exon5			CCTCTGGGAGGTC	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.181G>A	1.37:g.240070932G>A	ENSP00000255380:p.Gly61Arg	31	0		40	2	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340781	0.81911	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.36340	1.26;1.26	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.57536	1.79	0.80722	D	1	D	0.59357	0.985	P	0.59643	0.861	T	0.30794	-0.9966	10	0.19590	T	0.45	-10.3804	19.9823	0.97331	0.0:0.0:1.0:0.0	.	61	P20309	ACM3_HUMAN	R	61	ENSP00000255380:G61R;ENSP00000404764:G61R	ENSP00000255380:G61R	G	+	1	0	CHRM3	238137555	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	7.858000	0.86971	2.788000	0.95919	0.650000	0.86243	GGA	.		0.537	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		A	240070932	G	A	240070932	3	1	4	1	0	0	0	0	1	0	0	0	3385	1233	43	3	183	3	CHRM3	1	240070932	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	27272065	240070932	9179689	18	394											
CAD	790	hgsc.bcm.edu	37	2	27464966	27464966	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:27464966G>T	ENST00000403525.1	+	38	6026	c.5882G>T	c.(5881-5883)cGg>cTg	p.R1961L	CAD_ENST00000264705.4_Missense_Mutation_p.R2024L			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)					GTCGTGCTCCGGCACCCCCAG	0.627																																					p.R2024L		.											CAD,colon,carcinoma,0,1	CAD	0	0			c.G6071T						.						28	27	28					2																	27464966		2203	4298	6501	SO:0001583	missense	790	exon39			TGCTCCGGCACCC	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.5882G>T	2.37:g.27464966G>T	ENSP00000384510:p.Arg1961Leu	19	0		19	2	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.447791|5.447791	0.96205|0.96205	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.99961	.|-9.33;-9.33	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99977|0.99977	0.9993|0.9993	H|H	0.99806|0.99806	4.795|4.795	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.97110	.|1.0;0.995	D|D	0.98166|0.98166	1.0449|1.0449	5|10	.|0.87932	.|D	.|0	-12.5231|-12.5231	17.3144|17.3144	0.87218|0.87218	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1961;2024	.|F8VPD4;P27708	.|.;PYR1_HUMAN	C|L	60|2024;1961	.|ENSP00000264705:R2024L;ENSP00000384510:R1961L	.|ENSP00000264705:R2024L	G|R	+|+	1|2	0|0	CAD|CAD	27318470|27318470	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	9.174000|9.174000	0.94824|0.94824	2.430000|2.430000	0.82344|0.82344	0.491000|0.491000	0.48974|0.48974	GGC|CGG	.		0.627	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27464966	G	T	27464966	3	4	4	1	0	0	0	0	1	0	0	0	2572	1116	39	2	6225	2	CAD	2	27464966	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09		27464966	215734407	19	395											
HAAO	23498	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	43010487	43010487	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:43010487C>T	ENST00000294973.6	-	4	372	c.317G>A	c.(316-318)cGa>cAa	p.R106Q		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CAGCCGCCTTCGCTCAACCAC	0.587																																					p.R106Q													.	HAAO	26	0			c.G317A						.						40	36	38					2																	43010487		2203	4300	6503	SO:0001583	missense	23498	exon4			CGCCTTCGCTCAA	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.317G>A	2.37:g.43010487C>T	ENSP00000294973:p.Arg106Gln	30	1		28	9	NM_012205		Missense_Mutation	SNP	ENST00000294973.6	37	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952480	0.73787	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.35048	1.33;1.33	4.69	4.69	0.59074	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	L	0.54863	1.705	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.54036	-0.8353	10	0.59425	D	0.04	.	12.9987	0.58662	0.0:1.0:0.0:0.0	.	106	P46952	3HAO_HUMAN	Q	106;72	ENSP00000294973:R106Q;ENSP00000412601:R72Q	ENSP00000294973:R106Q	R	-	2	0	HAAO	42863991	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.685000	0.68204	2.457000	0.83068	0.460000	0.39030	CGA	.		0.587	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			T	43010487	C	T	43010487	3	4	4	1	0	0	0	0	1	0	0	0	6964	884	31	1	571	1	HAAO	2	43010487	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	15545521	43010487	200188886	20	396											
B3GNT2	10678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	62449365	62449365	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:62449365G>C	ENST00000301998.4	+	2	262	c.10G>C	c.(10-12)Gga>Cga	p.G4R	B3GNT2_ENST00000405767.1_Missense_Mutation_p.G4R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	4					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)			AATGAGTGTTGGACGTCGAAG	0.353																																					p.G4R		.											.	.	.	0			c.G10C						.						71	70	70					2																	62449365		2203	4300	6503	SO:0001583	missense	10678	exon2			AGTGTTGGACGTC	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.10G>C	2.37:g.62449365G>C	ENSP00000305595:p.Gly4Arg	35	0		34	12	NM_006577	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992413	0.74703	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.28255	1.62;1.62	6.02	6.02	0.97574	.	0.382752	0.29631	N	0.011611	T	0.43366	0.1244	M	0.68317	2.08	0.80722	D	1	D	0.56035	0.974	P	0.46585	0.521	T	0.26018	-1.0115	10	0.46703	T	0.11	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	4	Q9NY97	B3GN2_HUMAN	R	4	ENSP00000305595:G4R;ENSP00000384692:G4R	ENSP00000305595:G4R	G	+	1	0	B3GNT2	62302869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.939000	0.87685	2.865000	0.98341	0.655000	0.94253	GGA	.		0.353	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		C	62449365	G	C	62449365	3	2	4	1	0	0	0	0	1	0	0	0	1258	1349	47	5	12	5	B3GNT2	2	62449365	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	19438878	62449365	180750008	21	397											
TSGA10	80705	hgsc.bcm.edu	37	2	99636892	99636892	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:99636892C>A	ENST00000393483.3	-	18	2512	c.1668G>T	c.(1666-1668)caG>caT	p.Q556H	TSGA10_ENST00000355053.4_Missense_Mutation_p.Q556H|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q556H|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q556H	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	556	Interaction with HIF1A. {ECO:0000250}.				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)		p.Q556H(1)		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						CATTTGCCATCTGACTCCTCA	0.383																																					p.Q556H		.											TSGA10,NS,carcinoma,0,1	TSGA10	0	1	Substitution - Missense(1)	lung(1)	c.G1668T						.						62	62	62					2																	99636892		2203	4300	6503	SO:0001583	missense	80705	exon17			TGCCATCTGACTC	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.1668G>T	2.37:g.99636892C>A	ENSP00000377123:p.Gln556His	17	0		26	2	NM_182911	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349095	0.61183	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.78364	2.49;2.49;2.49;2.49;-1.17;2.49	5.49	2.64	0.31445	.	0.000000	0.64402	D	0.000001	T	0.80407	0.4617	L	0.43923	1.385	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.76727	-0.2853	10	0.49607	T	0.09	-12.4125	7.0166	0.24890	0.0:0.5357:0.0:0.4643	.	556	Q9BZW7	TSG10_HUMAN	H	556;556;556;556;486;556	ENSP00000377123:Q556H;ENSP00000386956:Q556H;ENSP00000347161:Q556H;ENSP00000444419:Q556H;ENSP00000386508:Q486H;ENSP00000377122:Q556H	ENSP00000347161:Q556H	Q	-	3	2	TSGA10	99003324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.777000	0.26718	0.388000	0.25054	0.650000	0.86243	CAG	.		0.383	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		A	99636892	C	A	99636892	3	1	4	1	0	0	0	0	1	0	0	0	16665	912	32	3	444	3	TSGA10	2	99636892	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	37187527	99636892	143562481	22	398											
CCDC138	165055	hgsc.bcm.edu	37	2	109463227	109463227	+	Missense_Mutation	SNP	G	G	A	rs145643143		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:109463227G>A	ENST00000295124.4	+	12	1417	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S	CCDC138_ENST00000412964.2_Missense_Mutation_p.G453S	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	453										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGGAGATTGGGTGAAGACAT	0.328																																					p.G453S		.											.	.	.	0			c.G1357A						.	G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	91	94	93		1357	5.9	1	2	dbSNP_134	93	0,8600		0,0,4300	no	missense	CCDC138	NM_144978.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	453/666	109463227	1,13005	2203	4300	6503	SO:0001583	missense	165055	exon12			AGATTGGGTGAAG	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.1357G>A	2.37:g.109463227G>A	ENSP00000295124:p.Gly453Ser	44	0		44	4	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.345373|5.345373	0.95807|0.95807	2.27E-4|2.27E-4	0.0|0.0	ENSG00000163006|ENSG00000163006	ENST00000412964;ENST00000295124|ENST00000456512	T;T|.	0.56776|.	0.44;0.53|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73768|.	0.3629|.	L|L	0.60455|0.60455	1.87|1.87	0.50813|0.50813	D|D	0.999896|0.999896	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.97110|.	1.0;0.942|.	T|.	0.69239|.	-0.5197|.	10|.	0.52906|.	T|.	0.07|.	-6.1916|-6.1916	19.8989|19.8989	0.96978|0.96978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	453;453|.	Q96M89-2;Q96M89|.	.;CC138_HUMAN|.	S|X	453|349	ENSP00000411800:G453S;ENSP00000295124:G453S|.	ENSP00000295124:G453S|.	G|W	+|+	1|3	0|0	CCDC138|CCDC138	108829659|108829659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.839000|6.839000	0.75364|0.75364	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	GGT|TGG	0.000		0.328	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		A	109463227	G	A	109463227	3	1	4	1	0	0	0	0	1	0	0	0	2779	1232	43	3	1403	3	CCDC138	2	109463227	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	9826335	109463227	133736146	23	399											
BIN1	274	broad.mit.edu;bcgsc.ca	37	2	127811543	127811543	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:127811543G>T	ENST00000316724.5	-	13	1588	c.1177C>A	c.(1177-1179)Ctg>Atg	p.L393M	BIN1_ENST00000466111.1_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.L350M|BIN1_ENST00000376113.2_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	393	Clathrin-binding.				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)		TCAAAGTCCAGGTCCAGCAGA	0.647																																					p.L393M													.	BIN1	85	0			c.C1177A						.						25	26	26					2																	127811543		2120	4148	6268	SO:0001583	missense	274	exon13			AGTCCAGGTCCAG	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.1177C>A	2.37:g.127811543G>T	ENSP00000316779:p.Leu393Met	84	2		57	27	NM_139343	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493806	0.64186	.	.	ENSG00000136717	ENST00000357970;ENST00000316724	T;T	0.72394	-0.45;-0.65	5.36	4.47	0.54385	.	0.223028	0.36972	N	0.002317	T	0.72969	0.3527	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.80764	0.904;0.994	T	0.67476	-0.5661	10	0.22706	T	0.39	-15.4853	9.4319	0.38615	0.1558:0.0:0.8442:0.0	.	350;393	O00499-5;O00499	.;BIN1_HUMAN	M	350;393	ENSP00000350654:L350M;ENSP00000316779:L393M	ENSP00000316779:L393M	L	-	1	2	BIN1	127528013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.708000	0.47152	2.533000	0.85409	0.456000	0.33151	CTG	.		0.647	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		T	127811543	G	T	127811543	3	4	4	1	0	0	0	0	1	0	0	0	1434	991	35	3	632	3	BIN1	2	127811543	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	18348316	127811543	115387830	24	400											
LRP1B	53353	hgsc.bcm.edu	37	2	141004670	141004670	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:141004670C>G	ENST00000389484.3	-	87	14280	c.13309G>C	c.(13309-13311)Gat>Cat	p.D4437H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4437					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)	p.D4437N(1)		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)		CTGATATGATCAGACTTGCTG	0.378										TSP Lung(27;0.18)																											p.D4437H	Colon(99;50 2074 2507 20106)	.											LRP1B,NS,carcinoma,+2,1	LRP1B	+2	1	Substitution - Missense(1)	skin(1)	c.G13309C						.						106	99	102					2																	141004670		2203	4300	6503	SO:0001583	missense	53353	exon87			TATGATCAGACTT	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.13309G>C	2.37:g.141004670C>G	ENSP00000374135:p.Asp4437His	48	0		42	2	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385667	0.82792	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.42513	0.97	5.8	5.8	0.92144	.	0.063505	0.64402	D	0.000010	T	0.37865	0.1019	N	0.14661	0.345	0.46396	D	0.999029	D	0.58970	0.984	P	0.48030	0.564	T	0.25676	-1.0125	10	0.49607	T	0.09	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	4437	Q9NZR2	LRP1B_HUMAN	H	4437;4375	ENSP00000374135:D4437H	ENSP00000374135:D4437H	D	-	1	0	LRP1B	140721140	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.736000	0.74811	2.741000	0.93983	0.650000	0.86243	GAT	.		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141004670	C	G	141004670	3	3	4	1	0	0	0	0	1	0	0	0	8990	826	29	5	510	5	LRP1B	2	141004670	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	13193127	141004670	102194703	25	401											
KCNH7	90134	hgsc.bcm.edu	37	2	163279884	163279884	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:163279884G>A	ENST00000332142.5	-	9	2215	c.2116C>T	c.(2116-2118)Cac>Tac	p.H706Y	KCNH7_ENST00000328032.4_Missense_Mutation_p.H699Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	706					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)			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)	GTCCATGCGTGCTGGAAATAT	0.443																																					p.H706Y	GBM(196;1492 2208 17507 24132 45496)	.											.	.	.	0			c.C2116T						.						249	232	238					2																	163279884		2203	4300	6503	SO:0001583	missense	90134	exon9			ATGCGTGCTGGAA	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.2116C>T	2.37:g.163279884G>A	ENSP00000331727:p.His706Tyr	63	0		85	4	NM_033272	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807749	0.90623	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.95622	-3.76;-3.76	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	M	0.66939	2.045	0.80722	D	1	D;B	0.89917	1.0;0.22	D;B	0.91635	0.999;0.168	D	0.97429	1.0014	10	0.59425	D	0.04	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	699;706	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Y	706;699	ENSP00000331727:H706Y;ENSP00000333781:H699Y	ENSP00000333781:H699Y	H	-	1	0	KCNH7	162988130	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.813000	0.99286	2.756000	0.94617	0.561000	0.74099	CAC	.		0.443	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		A	163279884	G	A	163279884	3	1	4	1	0	0	0	0	1	0	0	0	8064	1319	46	3	1572	3	KCNH7	2	163279884	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	22275214	163279884	79919489	26	402											
ITGA4	3676	hgsc.bcm.edu;bcgsc.ca	37	2	182359521	182359521	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:182359521G>T	ENST00000397033.2	+	12	1751	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	441					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)	AATTGATGCAGATAATAATGG	0.323																																					p.D441Y		.											.	.	.	0			c.G1321T						.						145	137	140					2																	182359521		1826	4080	5906	SO:0001583	missense	3676	exon12			GATGCAGATAATA		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.1321G>T	2.37:g.182359521G>T	ENSP00000380227:p.Asp441Tyr	58	0		69	4	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050059	0.75846	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.81415	-1.49;-1.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93148	0.7818	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94255	0.7497	10	0.87932	D	0	.	20.126	0.97982	0.0:0.0:1.0:0.0	.	441	P13612	ITA4_HUMAN	Y	441	ENSP00000380227:D441Y;ENSP00000233573:D441Y	ENSP00000233573:D441Y	D	+	1	0	ITGA4	182067766	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.453000	0.66645	2.749000	0.94314	0.655000	0.94253	GAT	.		0.323	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182359521	G	T	182359521	3	4	4	1	0	0	0	0	1	0	0	0	7905	942	33	3	1367	3	ITGA4	2	182359521	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	19079637	182359521	60839852	27	403											
CPS1	1373	hgsc.bcm.edu	37	2	211460258	211460258	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:211460258G>A	ENST00000233072.5	+	13	1507	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	CPS1_ENST00000430249.2_Silent_p.Q443Q|CPS1_ENST00000451903.2_5'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	437					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)	p.Q437H(2)|p.Q443H(1)		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)	CCATTGGTCAGGCTGGAGAAT	0.368																																					p.Q443Q		.											CPS1_ENST00000430249,NS,carcinoma,0,3	CPS1_ENST00000430249	0	3	Substitution - Missense(3)	lung(3)	c.G1329A						.						149	167	161					2																	211460258		2203	4300	6503	SO:0001819	synonymous_variant	1373	exon14			TGGTCAGGCTGGA	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.1311G>A	2.37:g.211460258G>A		80	0		45	2	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																			.		0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211460258	G	A	211460258	2	1	4	1	0	0	0	0	0	0	0	1	3830	991	35	3		3	CPS1	2	211460258	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	29100737	211460258	31739115	28	404											
COL6A3	1293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	238296453	238296453	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr2:238296453T>C	ENST00000295550.4	-	4	1536	c.1084A>G	c.(1084-1086)Att>Gtt	p.I362V	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.I156V|COL6A3_ENST00000346358.4_Missense_Mutation_p.I362V|COL6A3_ENST00000392004.3_Missense_Mutation_p.I156V|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.I156V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	362	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)|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)		CCGTAGCGAATCTCGTCACTA	0.632																																					p.I362V		.											.	.	.	0			c.A1084G						.						44	46	45					2																	238296453		2203	4300	6503	SO:0001583	missense	1293	exon4			AGCGAATCTCGTC	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.1084A>G	2.37:g.238296453T>C	ENSP00000295550:p.Ile362Val	20	0		29	15	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	8.137	0.784389	0.16189	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	T;T;T;T;T;D	0.97209	-1.03;-1.03;-1.03;-1.03;-1.03;-4.29	5.17	1.51	0.23008	von Willebrand factor, type A (3);	0.288406	0.24005	U	0.042425	D	0.86548	0.5959	N	0.02973	-0.45	0.21355	N	0.999712	B;B;B;B	0.32338	0.001;0.006;0.365;0.002	B;B;B;B	0.31495	0.003;0.019;0.131;0.003	T	0.81185	-0.1048	10	0.13108	T	0.6	.	3.7344	0.08504	0.2706:0.1471:0.0:0.5823	.	362;156;156;362	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	V	362;156;156;362;156;362	ENSP00000295550:I362V;ENSP00000315873:I156V;ENSP00000386844:I156V;ENSP00000295546:I362V;ENSP00000375861:I156V;ENSP00000389539:I362V	ENSP00000295550:I362V	I	-	1	0	COL6A3	237961192	0.262000	0.24073	0.944000	0.38274	0.891000	0.51852	0.288000	0.18939	0.293000	0.22520	0.528000	0.53228	ATT	.		0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238296453	T	C	238296453	3	2	4	1	0	0	0	0	1	0	0	0	3708	1435	50	4	8660	4	COL6A3	2	238296453	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	26836195	238296453	4902920	29	405											
SATB1	6304	broad.mit.edu	37	3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606																																					p.639_639del													.	SATB1	96	0			c.1915_1917del						.		,,	7,190,3727		2,0,3,5,180,1772					,,	-1.4	0			13	18,388,7346		2,0,14,7,374,3479	no	codingComplex,codingComplex,codingComplex	SATB1	NM_002971.4,NM_001195470.1,NM_001131010.2	,,	4,0,17,12,554,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2374,5.0204,5.1644	,,	,,		25,578,11073				SO:0001651	inframe_deletion	6304	exon12			CGGTGCCTGCTGC		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1819_1821delCAG	3.37:g.18391142_18391144delCTG	ENSP00000341024:p.Gln607del	14	0		6	2	NM_001195470	B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	CCDS2631.1																																																																																			.		0.606	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		-	18391135	CTG	-	18391133	7	5	4	1	0	1	0	1	0	0	0	0	13898	680	24	0	474	0	SATB1	3	18391133	In_Frame_Del	DEL	CTG	TCGA-3X-AAVC-01A-21D-A417-09		18391133	179631297	30	406											
ZCWPW2	152098	hgsc.bcm.edu	37	3	28562602	28562602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:28562602G>T	ENST00000383768.2	+	9	1092	c.904G>T	c.(904-906)Gaa>Taa	p.E302*	ZCWPW2_ENST00000421010.1_Nonsense_Mutation_p.E302*			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	302							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAATATGGGAGAAAAGGTAAT	0.338																																					p.E302X		.											ZCWPW2,caecum,carcinoma,0,1	ZCWPW2	0	0			c.G904T						.						64	60	61					3																	28562602		2203	4300	6503	SO:0001587	stop_gained	152098	exon8			ATGGGAGAAAAGG	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.904G>T	3.37:g.28562602G>T	ENSP00000373278:p.Glu302*	61	0		39	2	NM_001040432		Nonsense_Mutation	SNP	ENST00000383768.2	37	CCDS33723.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.54|16.54|16.54	3.152894|3.152894|3.152894	0.57259|0.57259|0.57259	.|.|.	.|.|.	ENSG00000206559|ENSG00000206559|ENSG00000206559	ENST00000457897|ENST00000383768;ENST00000421010|ENST00000419130	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	2.45|2.45|2.45	0.29901|0.29901|0.29901	.|.|.	0.356262|0.356262|.	0.24461|0.24461|.	N|N|.	0.038338|0.038338|.	T|.|T	0.55321|.|0.55321	0.1913|.|0.1913	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.50701|.|0.50701	-0.8797|.|-0.8797	5|.|4	.|0.14252|.	.|T|.	.|0.57|.	-8.0918|-8.0918|-8.0918	7.0682|7.0682|7.0682	0.25164|0.25164|0.25164	0.269:0.0:0.731:0.0|0.269:0.0:0.731:0.0|0.269:0.0:0.731:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	124|302|186	.|.|.	.|ENSP00000373278:E302X|.	E|E|R	+|+|+	3|1|2	2|0|0	ZCWPW2|ZCWPW2|ZCWPW2	28537606|28537606|28537606	0.435000|0.435000|0.435000	0.25577|0.25577|0.25577	0.888000|0.888000|0.888000	0.34837|0.34837|0.34837	0.630000|0.630000|0.630000	0.37929|0.37929|0.37929	0.994000|0.994000|0.994000	0.29693|0.29693|0.29693	1.203000|1.203000|1.203000	0.43233|0.43233|0.43233	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|GAA|AGA	.		0.338	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		T	28562602	G	T	28562602	4	4	4	1	0	0	0	0	0	1	0	0	17646	943	33	3	930	3	ZCWPW2	3	28562602	Nonsense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	10171469	28562602	169459828	31	407											
MLH1	4292	broad.mit.edu	37	3	37067150	37067150	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:37067150G>T	ENST00000231790.2	+	12	1277	c.1061G>T	c.(1060-1062)gGc>gTc	p.G354V	MLH1_ENST00000458205.2_Missense_Mutation_p.G113V|MLH1_ENST00000539477.1_Missense_Mutation_p.G113V|MLH1_ENST00000455445.2_Missense_Mutation_p.G113V|MLH1_ENST00000536378.1_Missense_Mutation_p.G113V|MLH1_ENST00000435176.1_Missense_Mutation_p.G256V	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	354					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GGACTTGCTGGCCCCTCTGGG	0.358		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.G354V			yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	.	MLH1	226	1	Whole gene deletion(1)	ovary(1)	c.G1061T	GRCh37	CD044147	MLH1	D		.						28	31	30					3																	37067150		2199	4300	6499	SO:0001583	missense	4292	exon12	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	TTGCTGGCCCCTC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1061G>T	3.37:g.37067150G>T	ENSP00000231790:p.Gly354Val	38	0		27	3	NM_000249	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.56|10.56	1.384819|1.384819	0.25031|0.25031	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000537937;ENST00000456676|ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	.|D;D;D;D;D;D	.|0.93763	.|-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.67|5.67	4.79|4.79	0.61399|0.61399	.|.	.|0.476362	.|0.23270	.|N	.|0.050024	D|D	0.83681|0.83681	0.5307|0.5307	N|N	0.14661|0.14661	0.345|0.345	0.27271|0.27271	N|N	0.958361|0.958361	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.67673|0.67673	-0.5610|-0.5610	5|10	.|0.12103	.|T	.|0.63	-12.3212|-12.3212	8.2793|8.2793	0.31892|0.31892	0.0782:0.0:0.7655:0.1563|0.0782:0.0:0.7655:0.1563	.|.	.|256;354;354	.|E9PCU2;Q53GX1;P40692	.|.;.;MLH1_HUMAN	S|V	269;346|354;218;113;113;113;256;113	.|ENSP00000231790:G354V;ENSP00000402667:G113V;ENSP00000443665:G113V;ENSP00000398272:G113V;ENSP00000402564:G256V;ENSP00000444286:G113V	.|ENSP00000231790:G354V	A|G	+|+	1|2	0|0	MLH1|MLH1	37042154|37042154	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	2.169000|2.169000	0.42434|0.42434	2.671000|2.671000	0.90904|0.90904	0.557000|0.557000	0.71058|0.71058	GCC|GGC	.		0.358	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		T	37067150	G	T	37067150	3	4	4	1	0	0	0	0	1	0	0	0	9655	1203	42	3	1107	3	MLH1	3	37067150	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	8504548	37067150	160955280	32	408											
DLEC1	9940	hgsc.bcm.edu	37	3	38135138	38135138	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:38135138G>T	ENST00000308059.6	+	12	1820	c.1799G>T	c.(1798-1800)gGt>gTt	p.G600V	DLEC1_ENST00000452631.2_Missense_Mutation_p.G600V|DLEC1_ENST00000346219.3_Missense_Mutation_p.G600V					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)		TATATTTCTGGTGAAAAAAGC	0.488																																					p.G600V		.											DLEC1_ENST00000346219,NS,carcinoma,-1,2	DLEC1_ENST00000346219	-1	0			c.G1799T						.						111	110	111					3																	38135138		1916	4140	6056	SO:0001583	missense	9940	exon12			TTTCTGGTGAAAA	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.1799G>T	3.37:g.38135138G>T	ENSP00000308597:p.Gly600Val	73	0		40	2	NM_007337		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670293	0.67814	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06294	3.33;3.32;3.55	5.08	5.08	0.68730	.	0.172827	0.51477	D	0.000098	T	0.22859	0.0552	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.996	T	0.11792	-1.0573	10	0.11485	T	0.65	-17.5899	15.4156	0.74966	0.0:0.0:1.0:0.0	.	600;600;600	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	V	600	ENSP00000308597:G600V;ENSP00000315914:G600V;ENSP00000410427:G600V	ENSP00000308597:G600V	G	+	2	0	DLEC1	38110142	1.000000	0.71417	0.806000	0.32338	0.989000	0.77384	4.515000	0.60489	2.347000	0.79759	0.655000	0.94253	GGT	.		0.488	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		T	38135138	G	T	38135138	3	4	4	1	0	0	0	0	1	0	0	0	4566	1261	44	3	1845	3	DLEC1	3	38135138	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	1067988	38135138	159887292	33	409											
TTC21A	199223	hgsc.bcm.edu	37	3	39154059	39154059	+	Silent	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:39154059G>T	ENST00000431162.2	+	5	680	c.546G>T	c.(544-546)ggG>ggT	p.G182G	TTC21A_ENST00000440121.1_Intron|TTC21A_ENST00000301819.6_Silent_p.G182G			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	182								p.G182G(1)		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)		ATGTGCTGGGGCTGATGGGAA	0.572																																					p.G182G		.											TTC21A,NS,carcinoma,0,1	TTC21A	0	1	Substitution - coding silent(1)	endometrium(1)	c.G546T						.						64	70	68					3																	39154059		1985	4175	6160	SO:0001819	synonymous_variant	199223	exon5			GCTGGGGCTGATG	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.546G>T	3.37:g.39154059G>T		30	0		30	2	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	CCDS46800.1																																																																																			.		0.572	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		T	39154059	G	T	39154059	2	4	4	1	0	0	0	0	0	0	0	1	16736	1190	42	3		3	TTC21A	3	39154059	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	1018921	39154059	158868371	34	410											
NISCH	11188	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	52510551	52510551	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:52510551C>T	ENST00000479054.1	+	9	926	c.854C>T	c.(853-855)aCt>aTt	p.T285I	NISCH_ENST00000420808.2_Missense_Mutation_p.T285I|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000345716.4_Missense_Mutation_p.T285I|NISCH_ENST00000488380.1_Missense_Mutation_p.T285I			Q9Y2I1	NISCH_HUMAN	nischarin	285	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				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)	GTCATCCCCACTTGGCAGGCA	0.552																																					p.T285I		.											.	.	.	0			c.C854T						.						91	77	82					3																	52510551		2203	4300	6503	SO:0001583	missense	11188	exon8			TCCCCACTTGGCA	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.854C>T	3.37:g.52510551C>T	ENSP00000418232:p.Thr285Ile	28	0		8	7	NM_001276293	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585686	0.66105	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.59	4.72	0.59763	.	0.161093	0.56097	D	0.000033	T	0.14184	0.0343	L	0.45581	1.43	0.39390	D	0.966406	P;B	0.36144	0.539;0.036	B;B	0.24974	0.057;0.012	T	0.10590	-1.0623	10	0.33141	T	0.24	-9.7887	6.626	0.22830	0.1452:0.7078:0.0:0.1469	.	285;285	Q9Y2I1;C9J715	NISCH_HUMAN;.	I	285	ENSP00000418232:T285I;ENSP00000339958:T285I;ENSP00000417812:T285I;ENSP00000392484:T285I	ENSP00000339958:T285I	T	+	2	0	NISCH	52485591	0.965000	0.33210	0.876000	0.34364	0.978000	0.69477	2.190000	0.42630	1.386000	0.46466	0.655000	0.94253	ACT	.		0.552	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		T	52510551	C	T	52510551	3	4	4	1	0	0	0	0	1	0	0	0	10471	565	20	3	884	3	NISCH	3	52510551	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	13356492	52510551	145511879	35	411											
NT5DC2	64943	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52561903	52561903	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:52561903G>A	ENST00000307076.4	-	8	1166	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	NT5DC2_ENST00000422318.2_Missense_Mutation_p.R293C|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R197C|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R268C	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	256							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GCCACCAGGCGGCTCAGGACA	0.597																																					p.R293C		.											.	.	.	0			c.C877T						.						96	86	89					3																	52561903		2203	4300	6503	SO:0001583	missense	64943	exon8			CCAGGCGGCTCAG	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.766C>T	3.37:g.52561903G>A	ENSP00000302468:p.Arg256Cys	38	0		16	4	NM_001134231	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.705577|2.705577	0.48412|0.48412	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000489316|ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	4.73|4.73	4.73|4.73	0.59995|0.59995	.|HAD-like domain (2);	.|0.059165	.|0.64402	.|D	.|0.000003	T|T	0.55049|0.55049	0.1896|0.1896	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74023	.|0.982;0.973;0.973	T|T	0.63726|0.63726	-0.6572|-0.6572	5|10	.|0.87932	.|D	.|0	-28.249|-28.249	12.2441|12.2441	0.54560|0.54560	0.0:0.0:0.7012:0.2988|0.0:0.0:0.7012:0.2988	.|.	.|268;256;293	.|C9JTZ6;Q9H857;E9PAL9	.|.;NT5D2_HUMAN;.	L|C	177|197;256;293;268	.|ENSP00000306017:R197C;ENSP00000302468:R256C;ENSP00000406933:R293C;ENSP00000419547:R268C	.|ENSP00000302468:R256C	P|R	-|-	2|1	0|0	NT5DC2|NT5DC2	52536943|52536943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.546000|0.546000	0.35178|0.35178	2.765000|2.765000	0.47621|0.47621	2.189000|2.189000	0.69895|0.69895	0.313000|0.313000	0.20887|0.20887	CCG|CGC	.		0.597	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		A	52561903	G	A	52561903	3	1	4	1	0	0	0	0	1	0	0	0	10730	1116	39	1	824	1	NT5DC2	3	52561903	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	51352	52561903	145460527	36	412											
ARHGEF3	50650	bcgsc.ca	37	3	56807804	56807804	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:56807804G>A	ENST00000296315.3	-	2	305	c.137C>T	c.(136-138)aCg>aTg	p.T46M	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.T17M|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.T78M|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.T52M|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.T46M|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.T52M	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	46					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)		TGCTAGCGACGTGACTCGGGA	0.468																																					p.T78M													.	ARHGEF3	128	0			c.C233T						.						112	109	110					3																	56807804		2203	4300	6503	SO:0001583	missense	50650	exon5			AGCGACGTGACTC	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.137C>T	3.37:g.56807804G>A	ENSP00000296315:p.Thr46Met	85	0		47	4	NM_001128615	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770626	0.90108	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779;ENST00000468466	T;T;T;T;T;T	0.29142	1.66;1.58;1.58;1.59;1.7;1.76	5.28	5.28	0.74379	.	0.049077	0.85682	D	0.000000	T	0.58192	0.2105	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	P;P;P;D;P;D	0.74023	0.902;0.902;0.84;0.982;0.902;0.955	T	0.61608	-0.7028	10	0.87932	D	0	-6.9843	19.3092	0.94179	0.0:0.0:1.0:0.0	.	52;17;46;78;46;52	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	M	46;78;52;52;17;46;47;64;78	ENSP00000296315:T46M;ENSP00000341071:T78M;ENSP00000410922:T52M;ENSP00000420420:T52M;ENSP00000418826:T17M;ENSP00000417986:T46M	ENSP00000296315:T46M	T	-	2	0	ARHGEF3	56782844	1.000000	0.71417	0.996000	0.52242	0.808000	0.45660	9.202000	0.95026	2.655000	0.90218	0.650000	0.86243	ACG	.		0.468	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		A	56807804	G	A	56807804	3	1	4	1	0	0	0	0	1	0	0	0	904	1145	40	1	1479	1	ARHGEF3	3	56807804	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	4245901	56807804	141214626	37	413											
HSPBAP1	79663	broad.mit.edu;bcgsc.ca	37	3	122459462	122459462	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:122459462G>A	ENST00000306103.2	-	8	1340	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	399						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)		GCGGTTCTTCGGACCTCTGTG	0.507																																					p.S399S													.	HSPBAP1	32	0			c.C1197T						.						140	138	139					3																	122459462		2203	4300	6503	SO:0001819	synonymous_variant	79663	exon8			TTCTTCGGACCTC	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.1197C>T	3.37:g.122459462G>A		31	1		35	12	NM_024610	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	CCDS3017.1																																																																																			.		0.507	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		A	122459462	G	A	122459462	2	1	4	1	0	0	0	0	0	0	0	1	7452	1103	39	1		1	HSPBAP1	3	122459462	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	65651658	122459462	75562968	38	414											
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						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						CTGCTGCTGCTGCAGCTCCAT	0.572																																					p.Q565L													.	TMCC1	105	0			c.A1694T						.						79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023	exon6			TGCTGCTGCAGCT	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.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu	24	0		34	3	NM_001017395	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG	.		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		A	129370592	T	A	129370592	3	1	4	1	0	0	0	0	1	0	0	0	16039	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	6911130	129370592	68651838	39	415											
STAG1	10274	hgsc.bcm.edu	37	3	136136813	136136813	+	Splice_Site	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:136136813C>A	ENST00000383202.2	-	21	2366	c.2110G>T	c.(2110-2112)Gca>Tca	p.A704S	STAG1_ENST00000434713.2_Splice_Site_p.A478S|STAG1_ENST00000236698.5_Splice_Site_p.A704S|STAG1_ENST00000536929.1_Splice_Site_p.A288S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	704					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)	p.A704P(1)		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						AGATCATGTGCACTGAAATAA	0.343																																					p.A704S		.											STAG1,NS,carcinoma,0,1	STAG1	0	1	Substitution - Missense(1)	breast(1)	c.G2110T						.						108	98	102					3																	136136813		2203	4300	6503	SO:0001630	splice_region_variant	10274	exon21			CATGTGCACTGAA	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.2109-1G>T	3.37:g.136136813C>A		61	0		65	3	NM_005862	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622275	0.87460	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.32023	1.9;1.92;1.95;1.47	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.77486	2.375	0.80722	D	1	B;P;B	0.50943	0.228;0.94;0.228	B;P;B	0.49853	0.137;0.624;0.094	T	0.43782	-0.9370	10	0.14656	T	0.56	.	17.9405	0.89025	0.0:1.0:0.0:0.0	.	721;704;704	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	S	704;704;478;288	ENSP00000372689:A704S;ENSP00000236698:A704S;ENSP00000404396:A478S;ENSP00000445787:A288S	ENSP00000236698:A704S	A	-	1	0	STAG1	137619503	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.732000	0.84908	2.204000	0.70986	0.555000	0.69702	GCA	.		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	Missense_Mutation	A	136136813	C	A	136136813	5	1	4	1	0	0	0	0	0	0	1	0	15289	724	25	3	1722	3	STAG1	3	136136813	Splice_Site	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	6766221	136136813	61885617	40	416											
SI	6476	broad.mit.edu	37	3	164785167	164785167	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr3:164785167A>G	ENST00000264382.3	-	6	658	c.596T>C	c.(595-597)tTt>tCt	p.F199S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	199	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)	TTGGATGCTAAATGGGTTTTG	0.303										HNSCC(35;0.089)																											p.F199S													.	SI	500	0			c.T596C						.						101	102	102					3																	164785167		2203	4298	6501	SO:0001583	missense	6476	exon6			ATGCTAAATGGGT	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.596T>C	3.37:g.164785167A>G	ENSP00000264382:p.Phe199Ser	192	1		239	6	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035748	0.54896	.	.	ENSG00000090402	ENST00000264382	T	0.32988	1.43	5.25	5.25	0.73442	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	H	0.97540	4.025	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.80650	-0.1288	10	0.51188	T	0.08	.	15.4536	0.75297	1.0:0.0:0.0:0.0	.	199	P14410	SUIS_HUMAN	S	199	ENSP00000264382:F199S	ENSP00000264382:F199S	F	-	2	0	SI	166267861	1.000000	0.71417	0.833000	0.33012	0.178000	0.23041	7.591000	0.82666	2.115000	0.64714	0.467000	0.42956	TTT	.		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		G	164785167	A	G	164785167	3	3	4	1	0	0	0	0	1	0	0	0	14342	14	1	4	5059	4	SI	3	164785167	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	28648354	164785167	33237263	41	417											
DRD5	1816	ucsc.edu	37	4	9783917	9783917	+	Silent	SNP	T	T	C	rs76288744		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr4:9783917T>C	ENST00000304374.2	+	1	660	c.264T>C	c.(262-264)ctT>ctC	p.L88L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	88			L -> R (in dbSNP:rs6282). {ECO:0000269|PubMed:10391209}.		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)	TGTCAGACCTTTTCGTGGCGC	0.637																																					p.L88L													.	DRD5	119	0			c.T264C						.						55	48	50					4																	9783917		2203	4300	6503	SO:0001819	synonymous_variant	1816	exon1			AGACCTTTTCGTG	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.264T>C	4.37:g.9783917T>C		40	5		34	9	NM_000798	B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	CCDS3405.1																																																																																			.		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			C	9783917	T	C	9783917	2	2	4	1	0	0	0	0	0	0	0	1	4774	1828	64	4		4	DRD5	4	9783917	Silent	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09		9783917	181370359	42	418											
ARAP2	116984	hgsc.bcm.edu;bcgsc.ca	37	4	36152626	36152626	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr4:36152626C>T	ENST00000303965.4	-	16	3282	c.2793G>A	c.(2791-2793)ttG>ttA	p.L931L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	931	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)	p.L931L(1)		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						CATAGTAACTCAAGAAGCCTC	0.308																																					p.L931L		.											ARAP2,colon,carcinoma,0,1	ARAP2	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G2793A						.						128	128	128					4																	36152626		2203	4299	6502	SO:0001819	synonymous_variant	116984	exon16			GTAACTCAAGAAG	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.2793G>A	4.37:g.36152626C>T		39	0		54	4	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																			.		0.308	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		T	36152626	C	T	36152626	2	4	4	1	0	0	0	0	0	0	0	1	839	825	29	3		3	ARAP2	4	36152626	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	26368709	36152626	155001650	43	419											
FIP1L1	81608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	54257252	54257252	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr4:54257252G>A	ENST00000337488.6	+	8	776	c.582G>A	c.(580-582)agG>agA	p.R194R	FIP1L1_ENST00000358575.5_Silent_p.R179R|FIP1L1_ENST00000507922.1_Silent_p.R179R|FIP1L1_ENST00000306932.6_Silent_p.R179R|FIP1L1_ENST00000507166.1_Silent_p.R194R	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	194	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AACAAAAGAGGATACGAATGG	0.343			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.R194R		.		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	.	.	0			c.G582A						.						94	105	101					4																	54257252		2203	4298	6501	SO:0001819	synonymous_variant	81608	exon8			AAAGAGGATACGA	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.582G>A	4.37:g.54257252G>A		102	0		107	50	NM_030917	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Silent	SNP	ENST00000337488.6	37	CCDS3491.1																																																																																			.		0.343	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		A	54257252	G	A	54257252	2	1	4	1	0	0	0	0	0	0	0	1	5918	1165	41	3		3	FIP1L1	4	54257252	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	18104626	54257252	136897024	44	420											
LRBA	987	hgsc.bcm.edu	37	4	151242369	151242369	+	Missense_Mutation	SNP	G	G	A	rs377257515		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr4:151242369G>A	ENST00000357115.3	-	51	7880	c.7637C>T	c.(7636-7638)gCg>gTg	p.A2546V	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.A2535V|LRBA_ENST00000535741.1_Missense_Mutation_p.A2535V|LRBA_ENST00000510413.1_Missense_Mutation_p.A2535V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2546						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)					TTTGTTCACCGCAAATAACCT	0.453																																					p.A2546V		.											LRBA,colon,carcinoma,0,1	LRBA	0	0			c.C7637T						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	159	144	149		7637,7637	6.1	1	4		149	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRBA	NM_001199282.2,NM_006726.4	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2546/2864,2546/2864	151242369	1,13005	2203	4300	6503	SO:0001583	missense	987	exon51			TTCACCGCAAATA	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.7637C>T	4.37:g.151242369G>A	ENSP00000349629:p.Ala2546Val	51	0		56	3	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.120134|4.120134	0.77323|0.77323	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.73152|.	-0.72;-0.72;-0.72;-0.72|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.058195|.	0.64402|.	D|.	0.000002|.	T|T	0.75265|0.75265	0.3826|0.3826	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	1.0;0.999;0.773;0.995|.	D;D;B;P|.	0.71656|.	0.971;0.974;0.324;0.645|.	T|T	0.70350|0.70350	-0.4896|-0.4896	10|5	0.49607|.	T|.	0.09|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2546;2535;2535;441|.	P50851;F5H1X8;P50851-2;Q68D03|.	LRBA_HUMAN;.;.;.|.	V|W	2535;2535;2546;2535|1188	ENSP00000446299:A2535V;ENSP00000421552:A2535V;ENSP00000349629:A2546V;ENSP00000422180:A2535V|.	ENSP00000349629:A2546V|.	A|R	-|-	2|1	0|2	LRBA|LRBA	151461819|151461819	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.721000|0.721000	0.41392|0.41392	9.807000|9.807000	0.99171|0.99171	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCG|CGG	.		0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			A	151242369	G	A	151242369	3	1	4	1	0	0	0	0	1	0	0	0	8966	1087	38	1	986	1	LRBA	4	151242369	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	96985117	151242369	39911907	45	421											
TRIM2	23321	bcgsc.ca	37	4	154237032	154237032	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr4:154237032C>T	ENST00000437508.2	+	8	1783	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	TRIM2_ENST00000338700.5_Missense_Mutation_p.R555C	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	528					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CATACGGGGACGCTCTCCGGG	0.458																																					p.R555C													.	TRIM2	105	0			c.C1663T						.						77	86	83					4																	154237032		2203	4300	6503	SO:0001583	missense	23321	exon8			CGGGGACGCTCTC	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1582C>T	4.37:g.154237032C>T	ENSP00000415812:p.Arg528Cys	24	0		18	3	NM_015271	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153728	0.38021	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.70631	-0.5;-0.5	5.07	5.07	0.68467	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.83968	0.0325	10	0.87932	D	0	-22.1086	12.0881	0.53708	0.2902:0.7098:0.0:0.0	.	555;528	D3DP09;Q9C040	.;TRIM2_HUMAN	C	528;555	ENSP00000415812:R528C;ENSP00000339659:R555C	ENSP00000339659:R555C	R	+	1	0	TRIM2	154456482	0.685000	0.27652	0.924000	0.36721	0.962000	0.63368	1.435000	0.34969	2.506000	0.84524	0.650000	0.86243	CGC	.		0.458	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			T	154237032	C	T	154237032	3	4	4	1	0	0	0	0	1	0	0	0	16542	536	19	1	1693	1	TRIM2	4	154237032	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	2994663	154237032	36917244	46	422											
BRD9	65980	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	864589	864589	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:864589C>T	ENST00000467963.1	-	16	1954	c.1788G>A	c.(1786-1788)aaG>aaA	p.K596K	BRD9_ENST00000483173.1_Silent_p.K543K|BRD9_ENST00000323510.4_Silent_p.K500K|BRD9_ENST00000388890.4_Silent_p.K480K	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	596					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGAGTTAGGTCTTGGCAGAGG	0.483																																					p.K596K		.											.	.	.	0			c.G1788A						.						62	66	64					5																	864589		2203	4300	6503	SO:0001819	synonymous_variant	65980	exon16			TTAGGTCTTGGCA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1788G>A	5.37:g.864589C>T		47	0		296	26	NM_023924	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																			.		0.483	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		T	864589	C	T	864589	2	4	4	1	0	0	0	0	0	0	0	1	1511	912	32	3		3	BRD9	5	864589	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		864589	180050671	47	423											
BRD9	65980	broad.mit.edu	37	5	891803	891805	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:891803_891805delCTT	ENST00000467963.1	-	2	383_385	c.217_219delAAG	c.(217-219)aagdel	p.K73del	BRD9_ENST00000483173.1_In_Frame_Del_p.R21del|BRD9_ENST00000323510.4_5'Flank|BRD9_ENST00000388890.4_5'Flank|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000435709.2_5'UTR	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	73	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCTTCTCGGActtcttcttcttc	0.547																																					p.73_73del													.	BRD9	113	0			c.217_219del						.		,	4,2404		0,4,1200					,	0.7	0.8			98	16,4654		3,10,2322	no	coding,coding	BRD9	NM_023924.4,NM_001009877.2	,	3,14,3522	A1A1,A1R,RR		0.3426,0.1661,0.2826	,	,		20,7058				SO:0001651	inframe_deletion	65980	exon2			CTCGGACTTCTTC	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.217_219delAAG	5.37:g.891812_891814delCTT	ENSP00000419765:p.Lys73del	44	0		267	6	NM_023924	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	In_Frame_Del	DEL	ENST00000467963.1	37	CCDS34127.2																																																																																			.		0.547	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		-	891805	CTT	-	891803	7	5	4	1	0	1	0	1	0	0	0	0	1511	565	20	0	1634	0	BRD9	5	891803	In_Frame_Del	DEL	CTT	TCGA-3X-AAVC-01A-21D-A417-09	27214	891803	180023457	48	424											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	13811890	13811890	+	Missense_Mutation	SNP	G	G	T	rs376707969		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:13811890G>T	ENST00000265104.4	-	44	7377	c.7273C>A	c.(7273-7275)Cgt>Agt	p.R2425S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2425	AAA 2. {ECO:0000250}.		R -> H (in dbSNP:rs35900306).		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)					TACAGCTGACGAAGAATTTCT	0.433									Kartagener syndrome																												p.R2425S		.											DNAH5,NS,malignant_melanoma,0,3	DNAH5	0	0			c.C7273A						.						80	78	79					5																	13811890		2203	4300	6503	SO:0001583	missense	1767	exon44	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCTGACGAAGAAT	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.7273C>A	5.37:g.13811890G>T	ENSP00000265104:p.Arg2425Ser	61	0		61	7	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183145	0.38511	.	.	ENSG00000039139	ENST00000265104	T	0.26067	1.76	5.78	5.78	0.91487	.	0.107097	0.64402	D	0.000008	T	0.28466	0.0704	M	0.70903	2.155	0.58432	D	0.999993	B	0.29590	0.25	B	0.30029	0.11	T	0.05954	-1.0854	10	0.10111	T	0.7	.	14.8147	0.70024	0.0:0.0:0.856:0.1439	.	2425	Q8TE73	DYH5_HUMAN	S	2425	ENSP00000265104:R2425S	ENSP00000265104:R2425S	R	-	1	0	DNAH5	13864890	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	3.164000	0.50770	2.729000	0.93468	0.650000	0.86243	CGT	.		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13811890	G	T	13811890	3	4	4	1	0	0	0	0	1	0	0	0	4618	1058	37	2	6745	2	DNAH5	5	13811890	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	12920087	13811890	167103370	49	425											
IL6ST	3572	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	55243387	55243387	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:55243387G>T	ENST00000381298.2	-	15	2183	c.1871C>A	c.(1870-1872)cCt>cAt	p.P624H	IL6ST_ENST00000336909.5_Missense_Mutation_p.P624H|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.P563H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.P624H|IL6ST_ENST00000381293.2_Intron	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	624					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)				TAAGCAAACAGGCACGACTAT	0.338			O		hepatocellular ca																																p.P624H		.		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	.	.	.	0			c.C1871A						.						83	78	80					5																	55243387		2203	4300	6503	SO:0001583	missense	3572	exon15			CAAACAGGCACGA	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.1871C>A	5.37:g.55243387G>T	ENSP00000370698:p.Pro624His	45	0		36	4	NM_002184	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080036	0.76528	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.41065	1.29;1.29;1.01	5.52	4.65	0.58169	.	0.444700	0.26535	N	0.023825	T	0.48003	0.1476	L	0.36672	1.1	0.80722	D	1	D;D;D	0.67145	0.996;0.987;0.996	P;P;P	0.55999	0.789;0.711;0.711	T	0.49698	-0.8912	10	0.62326	D	0.03	.	13.9594	0.64170	0.0736:0.0:0.9264:0.0	.	624;563;624	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	H	624;624;563	ENSP00000370698:P624H;ENSP00000338799:P624H;ENSP00000370694:P563H	ENSP00000338799:P624H	P	-	2	0	IL6ST	55279144	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.049000	0.76613	1.341000	0.45600	0.455000	0.32223	CCT	.		0.338	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		T	55243387	G	T	55243387	3	4	4	1	0	0	0	0	1	0	0	0	7730	1000	35	3	897	3	IL6ST	5	55243387	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	41431497	55243387	125671873	50	426											
ENC1	8507	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	73931139	73931139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:73931139delT	ENST00000302351.4	-	2	2302	c.1172delA	c.(1171-1173)tatfs	p.Y391fs	ENC1_ENST00000537006.1_Frame_Shift_Del_p.Y391fs|ENC1_ENST00000510316.1_Frame_Shift_Del_p.Y318fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	391					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)		CCCAACCACATACAGGCAGTG	0.582																																					p.Y391X		.											.	.	.	0			c.1173delT						.						50	53	52					5																	73931139		2203	4300	6503	SO:0001589	frameshift_variant	8507	exon3			ACCACATACAGGC	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.1172delA	5.37:g.73931139delT	ENSP00000306356:p.Tyr391fs	20	0		19	12	NM_001256575	B4DHJ1|E9PFU0|O75464|Q9UPG9	Frame_Shift_Del	DEL	ENST00000302351.4	37	CCDS4021.1																																																																																			.		0.582	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		-	73931139	T	-	73931139	7	5	4	1	0	1	0	1	0	0	0	0	5129	1406	49	0	601	0	ENC1	5	73931139	Frame_Shift_Del	DEL	T	TCGA-3X-AAVC-01A-21D-A417-09	18687752	73931139	106984121	51	427											
RFESD	317671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	94991955	94991955	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:94991955A>G	ENST00000311364.4	+	5	1833	c.416A>G	c.(415-417)aAg>aGg	p.K139R	RFESD_ENST00000458310.1_Missense_Mutation_p.K192R|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.K192R|RFESD_ENST00000513950.2_3'UTR	NM_173362.3	NP_775498.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	139							2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		GAACCTTTTAAGTGTGACTCT	0.338																																					p.K192R		.											.	.	.	0			c.A575G						.						66	76	72					5																	94991955		2203	4300	6503	SO:0001583	missense	317671	exon6			CTTTTAAGTGTGA	BC035110	CCDS4075.1, CCDS47248.1	5q15	2010-12-07			ENSG00000175449	ENSG00000175449			29587	protein-coding gene	gene with protein product						12477932	Standard	NM_173362		Approved		uc003klg.3	Q8TAC1	OTTHUMG00000121168	ENST00000311364.4:c.416A>G	5.37:g.94991955A>G	ENSP00000309229:p.Lys139Arg	53	0		47	9	NM_001131066	J3KPH1	Missense_Mutation	SNP	ENST00000311364.4	37	CCDS4075.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074668	0.36566	.	.	ENSG00000175449	ENST00000380005;ENST00000311364;ENST00000458310	.	.	.	5.44	1.81	0.25067	.	0.636591	0.17333	N	0.178042	T	0.37625	0.1010	N	0.21448	0.665	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07986	-1.0744	8	.	.	.	-0.9583	8.2467	0.31693	0.6213:0.0:0.3787:0.0	.	139	Q8TAC1	RFESD_HUMAN	R	192;139;192	.	.	K	+	2	0	RFESD	95017711	0.929000	0.31497	0.997000	0.53966	0.913000	0.54294	1.835000	0.39181	0.376000	0.24707	0.383000	0.25322	AAG	.		0.338	RFESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241654.1	NM_173362		G	94991955	A	G	94991955	3	3	4	1	0	0	0	0	1	0	0	0	13294	72	3	4	593	4	RFESD	5	94991955	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	21060816	94991955	85923305	52	428											
SLC12A2	6558	hgsc.bcm.edu;bcgsc.ca	37	5	127483404	127483404	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:127483404G>A	ENST00000262461.2	+	11	2053	c.1864G>A	c.(1864-1866)Gct>Act	p.A622T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A622T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	622					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CCTAGTGAGTGCTCCCAAAAT	0.323																																					p.A622T		.											.	.	.	0			c.G1864A						.						105	104	105					5																	127483404		2203	4297	6500	SO:0001583	missense	6558	exon11			GTGAGTGCTCCCA		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1864G>A	5.37:g.127483404G>A	ENSP00000262461:p.Ala622Thr	35	0		33	4	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029151	0.93518	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98876	-5.2;-5.2	5.06	5.06	0.68205	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99263	0.9743	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99260	1.0890	10	0.87932	D	0	.	18.6192	0.91315	0.0:0.0:1.0:0.0	.	622;622	P55011-3;P55011	.;S12A2_HUMAN	T	622	ENSP00000262461:A622T;ENSP00000340878:A622T	ENSP00000262461:A622T	A	+	1	0	SLC12A2	127511303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.121000	0.94375	2.638000	0.89438	0.585000	0.79938	GCT	.		0.323	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		A	127483404	G	A	127483404	3	1	4	1	0	0	0	0	1	0	0	0	14428	1319	46	3	1906	3	SLC12A2	5	127483404	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	32491449	127483404	53431856	53	429											
PCDHA5	56143	hgsc.bcm.edu	37	5	140203213	140203213	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:140203213G>A	ENST00000529859.1	+	1	1853	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	618	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)	p.R618H(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)			GGCAGTGCGCGCATCCCGTTC	0.652																																					p.R618H		.											PCDHA5_ENST00000529859,colon,carcinoma,0,2	PCDHA5_ENST00000529859	0	2	Substitution - Missense(2)	large_intestine(2)	c.G1853A						.						74	77	76					5																	140203213		2203	4300	6503	SO:0001583	missense	56143	exon1			GTGCGCGCATCCC	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.1853G>A	5.37:g.140203213G>A	ENSP00000436557:p.Arg618His	72	1		46	2	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	g	0.473	-0.883725	0.02530	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52526	0.66;0.66;0.66	3.87	2.06	0.26882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35508	0.0934	L	0.44542	1.39	0.23421	N	0.997713	B;B;B	0.29301	0.241;0.171;0.171	B;B;B	0.27715	0.082;0.03;0.046	T	0.22941	-1.0202	9	0.41790	T	0.15	.	5.4247	0.16419	0.1933:0.1635:0.6433:0.0	.	618;618;618	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	618	ENSP00000433416:R618H;ENSP00000436557:R618H;ENSP00000367366:R618H	ENSP00000367366:R618H	R	+	2	0	PCDHA5	140183397	0.000000	0.05858	0.173000	0.22940	0.289000	0.27227	-0.561000	0.05957	0.264000	0.21851	-0.699000	0.03677	CGC	.		0.652	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140203213	G	A	140203213	3	1	4	1	0	0	0	0	1	0	0	0	11566	1087	38	1	1855	1	PCDHA5	5	140203213	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	12719809	140203213	40712047	54	430											
PCDHGA3	56112	hgsc.bcm.edu	37	5	140725274	140725274	+	Silent	SNP	C	C	T	rs200612120		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:140725274C>T	ENST00000253812.6	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	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	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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.632																																					p.N558N		.											PCDHGA3_ENST00000253812,NS,carcinoma,0,3	PCDHGA3_ENST00000253812	0	0			c.C1674T						.						129	141	137					5																	140725274		2203	4300	6503	SO:0001819	synonymous_variant	56112	exon1			CGACAACGCGCCC	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.1674C>T	5.37:g.140725274C>T		59	2		45	3	NM_032011	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			0.001		0.632	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725274	C	T	140725274	2	4	4	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHGA3	5	140725274	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	522061	140725274	40189986	55	431											
ARAP3	64411	bcgsc.ca	37	5	141039000	141039000	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr5:141039000A>T	ENST00000239440.4	-	23	3376	c.3311T>A	c.(3310-3312)cTt>cAt	p.L1104H	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.L935H|ARAP3_ENST00000513878.1_Missense_Mutation_p.L766H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1104					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						GGTGGTGATAAGACTGACCTC	0.527																																					p.L1104H													.	ARAP3	139	0			c.T3311A						.						113	95	101					5																	141039000		2203	4300	6503	SO:0001583	missense	64411	exon23			GTGATAAGACTGA	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.3311T>A	5.37:g.141039000A>T	ENSP00000239440:p.Leu1104His	43	0		14	3	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719219	0.89205	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.18016	2.24;2.96;2.82	5.96	5.96	0.96718	.	0.307790	0.31323	N	0.007855	T	0.36635	0.0974	L	0.46157	1.445	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.96;0.994;0.972	T	0.04976	-1.0914	10	0.72032	D	0.01	.	16.0995	0.81163	1.0:0.0:0.0:0.0	.	766;935;1104	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	935;1104;766	ENSP00000421826:L935H;ENSP00000239440:L1104H;ENSP00000421468:L766H	ENSP00000239440:L1104H	L	-	2	0	ARAP3	141019184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.518000	0.90559	2.280000	0.76307	0.533000	0.62120	CTT	.		0.527	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		T	141039000	A	T	141039000	3	4	4	1	0	0	0	0	1	0	0	0	840	72	3	5	1367	5	ARAP3	5	141039000	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	313726	141039000	39876260	56	432											
ZFP57	4340	hgsc.bcm.edu	37	6	29640988	29640988	+	IGR	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr6:29640988G>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Silent_p.T280T|ZFP57_ENST00000376883.1_Silent_p.T280T|ZFP57_ENST00000488757.1_Silent_p.T300T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ATTCAGCCTGGGTGCCTGGAA	0.557																																					p.T300T		.											ZFP57,bladder,carcinoma,0,2	ZFP57	0	0			c.C900A						.						144	150	148					6																	29640988		1229	2537	3766	SO:0001628	intergenic_variant	346171	exon4			AGCCTGGGTGCCT		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640988G>T		51	0		32	2	NM_001109809	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	CCDS34370.1																																																																																			.		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		T	29640988	G	T	29640988	1	4	4	0	1	0	0	0	0	0	0	0	17699	1219	43	3		3	ZFP57	6	29640988	IGR	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09		29640988	141474079	57	433											
TFAP2D	83741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	50696636	50696636	+	Silent	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr6:50696636T>C	ENST00000008391.3	+	4	894	c.666T>C	c.(664-666)agT>agC	p.S222S	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)					CCCTTCTTAGTTCTACTTCCA	0.478																																					p.S222S		.											.	.	.	0			c.T666C						.						104	103	103					6																	50696636		2203	4300	6503	SO:0001819	synonymous_variant	83741	exon4			TCTTAGTTCTACT	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.666T>C	6.37:g.50696636T>C		48	0		27	16	NM_172238		Silent	SNP	ENST00000008391.3	37	CCDS4933.1																																																																																			.		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		C	50696636	T	C	50696636	2	2	4	1	0	0	0	0	0	0	0	1	15837	1722	60	4		4	TFAP2D	6	50696636	Silent	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	21055648	50696636	120418431	58	434											
ZBTB24	9841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	109787628	109787628	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr6:109787628G>A	ENST00000230122.3	-	7	1687	c.1520C>T	c.(1519-1521)gCt>gTt	p.A507V	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	507					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)		TTTCAAGTGAGCCTTCAAGTT	0.453																																					p.A507V		.											.	.	.	0			c.C1520T						.						104	100	101					6																	109787628		2203	4300	6503	SO:0001583	missense	9841	exon7			AAGTGAGCCTTCA	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.1520C>T	6.37:g.109787628G>A	ENSP00000230122:p.Ala507Val	38	0		47	8	NM_014797	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536330	0.65085	.	.	ENSG00000112365	ENST00000230122	T	0.27557	1.66	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.161489	0.56097	D	0.000033	T	0.10508	0.0257	L	0.27053	0.805	0.42283	D	0.992104	P	0.48911	0.917	B	0.30716	0.119	T	0.09292	-1.0681	10	0.18710	T	0.47	-18.695	20.6208	0.99490	0.0:0.0:1.0:0.0	.	507	O43167	ZBT24_HUMAN	V	507	ENSP00000230122:A507V	ENSP00000230122:A507V	A	-	2	0	ZBTB24	109894321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.329000	0.65892	2.882000	0.98803	0.655000	0.94253	GCT	.		0.453	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		A	109787628	G	A	109787628	3	1	4	1	0	0	0	0	1	0	0	0	17579	971	34	3	577	3	ZBTB24	6	109787628	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	59090992	109787628	61327439	59	435											
C6orf204	387119	ucsc.edu;bcgsc.ca	37	6	118886922	118886922	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr6:118886922G>A	ENST00000368491.3	-	3	1411	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S	CEP85L_ENST00000368488.5_Missense_Mutation_p.P267S|CEP85L_ENST00000419517.2_Missense_Mutation_p.P264S|CEP85L_ENST00000360290.3_Missense_Mutation_p.P162S|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.P267S	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	264						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GTCATAATGGGCTTGCTTTCA	0.448																																					p.P267S													.	CEP85L	26	0			c.C799T						.						112	108	110					6																	118886922		2203	4300	6503	SO:0001583	missense	387119	exon4			TAATGGGCTTGCT	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.790C>T	6.37:g.118886922G>A	ENSP00000357477:p.Pro264Ser	41	0		36	4	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493788	0.26774	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.23552	3.09;3.09;2.5;2.23;1.9;2.24	6.07	1.89	0.25635	.	0.333921	0.32372	N	0.006183	T	0.08088	0.0202	L	0.27053	0.805	0.44635	D	0.997616	B;B;B;B;B	0.26081	0.012;0.081;0.141;0.141;0.084	B;B;B;B;B	0.26202	0.027;0.046;0.046;0.067;0.028	T	0.10132	-1.0643	10	0.42905	T	0.14	-0.9603	11.8106	0.52181	0.2727:0.0:0.7273:0.0	.	162;267;264;267;264	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	S	264;267;267;267;162;264	ENSP00000357477:P264S;ENSP00000357474:P267S;ENSP00000392131:P267S;ENSP00000376288:P267S;ENSP00000353434:P162S;ENSP00000393317:P264S	ENSP00000353434:P162S	P	-	1	0	C6orf204	118993615	1.000000	0.71417	0.983000	0.44433	0.789000	0.44602	1.575000	0.36493	0.473000	0.27368	-0.136000	0.14681	CCC	.		0.448	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		A	118886922	G	A	118886922	3	1	4	1	0	0	0	0	1	0	0	0	2360	1203	42	3	1725	3	C6orf204	6	118886922	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	9099294	118886922	52228145	60	436											
FAM184A	79632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	119295656	119295656	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr6:119295656A>G	ENST00000338891.7	-	14	3295	c.2852T>C	c.(2851-2853)aTg>aCg	p.M951T	FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	951						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATCTGCCCGCATGATATTTTT	0.338																																					p.M951T		.											.	.	.	0			c.T2852C						.						259	246	250					6																	119295656		1810	4081	5891	SO:0001583	missense	79632	exon14			GCCCGCATGATAT	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2852T>C	6.37:g.119295656A>G	ENSP00000342604:p.Met951Thr	57	0		49	7	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089806	0.55968	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000368472	T;T	0.52057	2.13;0.68	5.4	5.4	0.78164	.	0.042989	0.85682	D	0.000000	T	0.36880	0.0983	M	0.76574	2.34	0.80722	D	1	P	0.37276	0.589	B	0.32805	0.153	T	0.49916	-0.8888	10	0.66056	D	0.02	-8.8095	15.713	0.77646	1.0:0.0:0.0:0.0	.	951	Q8NB25	F184A_HUMAN	T	114;951;12	ENSP00000342604:M951T;ENSP00000357457:M12T	ENSP00000342604:M951T	M	-	2	0	FAM184A	119337355	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.640000	0.91028	2.178000	0.69098	0.477000	0.44152	ATG	.		0.338	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		G	119295656	A	G	119295656	3	3	4	1	0	0	0	0	1	0	0	0	5530	217	8	4	590	4	FAM184A	6	119295656	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	408734	119295656	51819411	61	437											
RPS6KA2	6196	ucsc.edu;bcgsc.ca	37	6	166826350	166826350	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr6:166826350G>T	ENST00000265678.4	-	21	2325	c.2102C>A	c.(2101-2103)gCt>gAt	p.A701D	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.A612D|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.A612D|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.A709D|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.A726D	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	701					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)		TCTGTTTAGAGCAAAGTAGGT	0.647																																					p.A709D													.	RPS6KA2	212	0			c.C2126A						.						28	30	29					6																	166826350		2177	4269	6446	SO:0001583	missense	6196	exon22			TTTAGAGCAAAGT	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.2102C>A	6.37:g.166826350G>T	ENSP00000265678:p.Ala701Asp	30	0		36	4	NM_001006932	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640451	0.87859	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.38	4.38	0.52667	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.89904	3.07	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.70230	-0.4929	10	0.56958	D	0.05	.	16.3563	0.83236	0.0:0.0:1.0:0.0	.	726;709;701	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	D	701;726;709;612;612	ENSP00000265678:A701D;ENSP00000422435:A726D;ENSP00000427015:A709D;ENSP00000422484:A612D;ENSP00000386050:A612D	ENSP00000265678:A701D	A	-	2	0	RPS6KA2	166746340	1.000000	0.71417	0.653000	0.29593	0.925000	0.55904	8.676000	0.91199	2.168000	0.68352	0.558000	0.71614	GCT	.		0.647	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		T	166826350	G	T	166826350	3	4	4	1	0	0	0	0	1	0	0	0	13696	971	34	3	103	3	RPS6KA2	6	166826350	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	47530694	166826350	4288717	62	438											
MLLT4	4301	broad.mit.edu	37	6	168289932	168289932	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr6:168289932A>G	ENST00000447894.2	+	7	935	c.935A>G	c.(934-936)aAg>aGg	p.K312R	MLLT4_ENST00000400822.3_Missense_Mutation_p.K311R|MLLT4_ENST00000344191.4_Missense_Mutation_p.K312R|MLLT4_ENST00000392108.3_Missense_Mutation_p.K312R|MLLT4_ENST00000366806.2_Missense_Mutation_p.K312R|MLLT4_ENST00000392112.1_Missense_Mutation_p.K311R|MLLT4_ENST00000351017.4_Missense_Mutation_p.K312R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	312	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)		TCTGATGAAAAGGGTGCTAAA	0.338			T	MLL	AL																																p.K312R				Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	MLLT4,NS,carcinoma,-1,1	MLLT4	351	0			c.A935G						.						156	157	157					6																	168289932		2203	4296	6499	SO:0001583	missense	4301	exon7			ATGAAAAGGGTGC	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.935A>G	6.37:g.168289932A>G	ENSP00000404595:p.Lys312Arg	46	0		40	3	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	A	12.61	1.990802	0.35131	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.38	3.07	0.35406	.	0.107097	0.64402	N	0.000008	T	0.04407	0.0121	L	0.40543	1.245	0.45390	D	0.998376	B;B;B;B	0.13145	0.001;0.001;0.0;0.007	B;B;B;B	0.14023	0.01;0.005;0.002;0.009	T	0.25847	-1.0120	10	0.20046	T	0.44	-13.2169	6.81	0.23799	0.7742:0.0:0.2258:0.0	.	25;311;312;311	Q96C95;P55196-5;P55196-6;P55196-2	.;.;.;.	R	312;312;312;312;311;312;311;312	ENSP00000341118:K312R;ENSP00000252692:K312R;ENSP00000375956:K312R;ENSP00000355771:K312R;ENSP00000375960:K311R;ENSP00000383623:K311R;ENSP00000404595:K312R	ENSP00000345834:K312R	K	+	2	0	MLLT4	168032781	1.000000	0.71417	0.833000	0.33012	0.900000	0.52787	4.435000	0.59941	0.375000	0.24679	0.533000	0.62120	AAG	.		0.338	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		G	168289932	A	G	168289932	3	3	4	1	0	0	0	0	1	0	0	0	9667	72	3	4	961	4	MLLT4	6	168289932	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	1463582	168289932	2825135	63	439											
GNA12	2768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	2771312	2771312	+	Missense_Mutation	SNP	C	C	T	rs201475988		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:2771312C>T	ENST00000275364.3	-	4	811	c.649G>A	c.(649-651)Gtt>Att	p.V217I	GNA12_ENST00000396960.3_Missense_Mutation_p.V69I|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.V141I|GNA12_ENST00000407904.3_Missense_Mutation_p.V158I|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000544127.1_Missense_Mutation_p.V124I	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	217					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)		TTCTTAATAACGAAGTCATGC	0.488																																					p.V217I		.											.	.	.	0			c.G649A						.	C	ILE/VAL	0,4406		0,0,2203	66	56	59		649	0.3	0.4	7		59	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GNA12	NM_007353.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	217/382	2771312	1,13005	2203	4300	6503	SO:0001583	missense	2768	exon4			TAATAACGAAGTC	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.649G>A	7.37:g.2771312C>T	ENSP00000275364:p.Val217Ile	49	0		39	18	NM_007353	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065961	0.36470	0.0	1.16E-4	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	6.17	0.311	0.15831	.	0.239980	0.42682	N	0.000676	T	0.81673	0.4872	L	0.37897	1.145	0.43381	D	0.995487	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.73981	-0.3811	10	0.72032	D	0.01	.	10.1899	0.43019	0.0:0.5015:0.0:0.4985	.	217;217;158	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	I	217;158;141;69;124	ENSP00000275364:V217I;ENSP00000385935:V158I;ENSP00000386054:V141I;ENSP00000380160:V69I;ENSP00000437469:V124I	ENSP00000275364:V217I	V	-	1	0	GNA12	2737838	0.998000	0.40836	0.371000	0.25978	0.990000	0.78478	1.472000	0.35376	0.199000	0.20427	0.655000	0.94253	GTT	.		0.488	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		T	2771312	C	T	2771312	3	4	4	1	0	0	0	0	1	0	0	0	6526	536	19	1	500	1	GNA12	7	2771312	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		2771312	156367351	64	440											
CCDC129	223075	hgsc.bcm.edu	37	7	31617905	31617905	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:31617905C>T	ENST00000407970.3	+	8	1065	c.1027C>T	c.(1027-1029)Ccg>Tcg	p.P343S	CCDC129_ENST00000451887.2_Missense_Mutation_p.P369S|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.P251S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	343										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTCATCTATGCCGGCCAAGCA	0.502																																					p.P369S		.											CCDC129,NS,carcinoma,0,1	CCDC129	0	0			c.C1105T						.						70	69	69					7																	31617905		1968	4137	6105	SO:0001583	missense	223075	exon8			TCTATGCCGGCCA	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.1027C>T	7.37:g.31617905C>T	ENSP00000384416:p.Pro343Ser	34	0		25	2	NM_001257968	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	2.546	-0.305078	0.05495	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.15952	2.64;2.64;2.38	5.08	-0.835	0.10775	.	.	.	.	.	T	0.09291	0.0229	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13145	0.007;0.004;0.004	B;B;B	0.13407	0.009;0.009;0.009	T	0.39251	-0.9623	8	.	.	.	1.756	5.512	0.16886	0.0:0.2803:0.3167:0.403	.	369;353;343	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	S	343;369;353;251	ENSP00000384416:P343S;ENSP00000395835:P369S;ENSP00000387214:P251S	.	P	+	1	0	CCDC129	31584430	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.390000	0.07332	-0.066000	0.12998	-0.885000	0.02943	CCG	.		0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		T	31617905	C	T	31617905	3	4	4	1	0	0	0	0	1	0	0	0	2771	739	26	3	1053	3	CCDC129	7	31617905	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	28846593	31617905	127520758	65	441											
ABCA13	154664	hgsc.bcm.edu	37	7	48284188	48284188	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:48284188G>T	ENST00000435803.1	+	11	1302	c.1278G>T	c.(1276-1278)tgG>tgT	p.W426C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	426					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.W426*(1)|p.W371*(1)		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						AGCATCTGTGGAAATTGCAAA	0.393																																					p.W426C		.											ABCA13,bladder,carcinoma,0,1	ABCA13	0	2	Substitution - Nonsense(2)	urinary_tract(2)	c.G1278T						.						49	47	48					7																	48284188		1817	4075	5892	SO:0001583	missense	154664	exon11			TCTGTGGAAATTG	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.1278G>T	7.37:g.48284188G>T	ENSP00000411096:p.Trp426Cys	39	0		43	2	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.609	-0.079950	0.07141	.	.	ENSG00000179869	ENST00000435803	D	0.88741	-2.42	5.05	2.9	0.33743	.	2.188540	0.02025	N	0.048069	T	0.79281	0.4419	N	0.08118	0	0.09310	N	0.999996	B	0.27679	0.185	B	0.28232	0.087	T	0.70547	-0.4842	10	0.59425	D	0.04	.	3.8381	0.08903	0.1632:0.2749:0.5619:0.0	.	426	Q86UQ4	ABCAD_HUMAN	C	426	ENSP00000411096:W426C	ENSP00000411096:W426C	W	+	3	0	ABCA13	48254734	0.037000	0.19845	0.004000	0.12327	0.458000	0.32498	0.997000	0.29731	1.072000	0.40860	0.650000	0.86243	TGG	.		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48284188	G	T	48284188	3	4	4	1	0	0	0	0	1	0	0	0	31	1183	41	3	1149	3	ABCA13	7	48284188	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	16666283	48284188	110854475	66	442											
TYW1B	441250	bcgsc.ca	37	7	72093929	72093929	+	RNA	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:72093929C>T	ENST00000435769.2	-	0	1683				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		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)										AGGCCTGGAGCTCGTCCACGT	0.522																																					.													.	.	.	0			.						.						79	88	85					7																	72093929		692	1588	2280			441250	.			CTGGAGCTCGTCC	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093929C>T		71	0		68	4	.	A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																				.		0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		T	72093929	C	T	72093929	1	4	4	0	1	0	0	0	0	0	0	0	16868	796	28	3		3	TYW1B	7	72093929	RNA	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	23809741	72093929	87044734	67	443											
POM121	9883	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	72416719	72416719	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:72416719C>T	ENST00000434423.2	+	13	3696	c.3696C>T	c.(3694-3696)acC>acT	p.T1232T	POM121_ENST00000257622.4_Silent_p.T967T|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000358357.3_Silent_p.T967T|POM121_ENST00000446813.1_Intron|POM121_ENST00000395270.1_Intron			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1232	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)				GATCCAAGACCCCAGGGGCTC	0.582																																					p.T967T		.											.	.	.	0			c.C2901T						.						49	54	52					7																	72416719		2203	4300	6503	SO:0001819	synonymous_variant	9883	exon13			CAAGACCCCAGGG	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.3696C>T	7.37:g.72416719C>T		120	0		100	42	NM_172020	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37																																																																																				.		0.582	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			T	72416719	C	T	72416719	2	4	4	1	0	0	0	0	0	0	0	1	12278	610	22	3		3	POM121	7	72416719	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	322790	72416719	86721944	68	444											
CYP3A43	64816	hgsc.bcm.edu	37	7	99459440	99459440	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:99459440C>T	ENST00000354829.2	+	11	1334	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	CYP3A43_ENST00000342499.4_Missense_Mutation_p.P271S|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P200S|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P301S|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P411S|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P411S|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P158S|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	411			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)	CTGGACAGAGCCTGAGAAGTT	0.478																																					p.P411S		.											CYP3A43,NS,carcinoma,0,1	CYP3A43	0	0			c.C1231T						.						113	103	106					7																	99459440		2203	4300	6503	SO:0001583	missense	64816	exon11			ACAGAGCCTGAGA	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.1231C>T	7.37:g.99459440C>T	ENSP00000346887:p.Pro411Ser	78	0		70	3	NM_057096	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839454	0.51057	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	2.71	1.77	0.24775	.	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	H	0.97635	4.045	0.54753	D	0.999983	P;D;D;D;D	0.89917	0.95;0.997;0.999;1.0;1.0	P;D;D;D;D	0.80764	0.662;0.975;0.99;0.994;0.994	D	0.93653	0.6975	10	0.87932	D	0	.	8.6926	0.34275	0.2291:0.7709:0.0:0.0	.	301;271;411;411;411	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	S	411;301;271;158;200;411;411	ENSP00000346887:P411S;ENSP00000416581:P301S;ENSP00000345351:P271S;ENSP00000405557:P158S;ENSP00000401521:P200S;ENSP00000312110:P411S;ENSP00000222382:P411S	ENSP00000222382:P411S	P	+	1	0	CYP3A43	99297376	0.983000	0.35010	0.554000	0.28268	0.570000	0.35934	4.076000	0.57591	0.650000	0.30769	0.404000	0.27445	CCT	.		0.478	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			T	99459440	C	T	99459440	3	4	4	1	0	0	0	0	1	0	0	0	4188	739	26	3	1273	3	CYP3A43	7	99459440	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	27042721	99459440	59679223	69	445											
PLXNA4	91584	hgsc.bcm.edu	37	7	132174138	132174138	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:132174138G>T	ENST00000359827.3	-	3	2246	c.1284C>A	c.(1282-1284)gaC>gaA	p.D428E	PLXNA4_ENST00000423507.2_Missense_Mutation_p.D428E|PLXNA4_ENST00000321063.4_Missense_Mutation_p.D428E|PLXNA4_ENST00000378539.5_Missense_Mutation_p.D428E			Q9HCM2	PLXA4_HUMAN	plexin A4	428	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.D428D(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCGGTCCCTGTCCTCCGTGA	0.527																																					p.D428E		.											PLXNA4_ENST00000423507,NS,carcinoma,0,7	PLXNA4_ENST00000423507	0	4	Substitution - coding silent(4)	endometrium(4)	c.C1284A						.						121	98	106					7																	132174138		2203	4300	6503	SO:0001583	missense	91584	exon3			GTCCCTGTCCTCC	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.1284C>A	7.37:g.132174138G>T	ENSP00000352882:p.Asp428Glu	36	0		30	2	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413528	0.25465	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.182932	0.32314	U	0.006263	T	0.06781	0.0173	N	0.11927	0.2	0.39256	D	0.964124	B;B;B	0.25667	0.051;0.126;0.131	B;B;B	0.34991	0.085;0.193;0.103	T	0.12293	-1.0553	10	0.02654	T	1	.	12.7152	0.57111	0.0848:0.0:0.9152:0.0	.	428;428;428	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	E	428	ENSP00000323194:D428E;ENSP00000352882:D428E;ENSP00000392772:D428E;ENSP00000367800:D428E	ENSP00000323194:D428E	D	-	3	2	PLXNA4	131824678	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.165000	0.42396	2.712000	0.92718	0.650000	0.86243	GAC	.		0.527	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	132174138	G	T	132174138	3	4	4	1	0	0	0	0	1	0	0	0	12161	1368	48	3	4834	3	PLXNA4	7	132174138	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	32714698	132174138	26964525	70	446											
GIMAP6	474344	hgsc.bcm.edu	37	7	150324841	150324841	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:150324841G>A	ENST00000328902.5	-	3	1061	c.845C>T	c.(844-846)gCc>gTc	p.A282V	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	282						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)		GCATCTGTGGGCTTCCTCAGA	0.587																																					p.A352V		.											GIMAP6,NS,carcinoma,0,1	GIMAP6	0	0			c.C1055T						.						87	74	79					7																	150324841		2203	4300	6503	SO:0001583	missense	474344	exon3			CTGTGGGCTTCCT	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.845C>T	7.37:g.150324841G>A	ENSP00000330374:p.Ala282Val	51	0		26	2	NM_001244072	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572493	0.28092	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.05925	3.37	3.3	-1.69	0.08186	.	2.954240	0.01187	N	0.007228	T	0.04543	0.0124	L	0.27053	0.805	0.09310	N	1	B;B	0.22003	0.063;0.025	B;B	0.19666	0.026;0.006	T	0.34576	-0.9823	10	0.16420	T	0.52	.	2.4116	0.04426	0.2901:0.0:0.3113:0.3986	.	282;202	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	V	282;343	ENSP00000330374:A282V	ENSP00000330374:A282V	A	-	2	0	GIMAP6	149955774	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.072000	0.11486	-0.196000	0.10366	-0.345000	0.07892	GCC	.		0.587	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		A	150324841	G	A	150324841	3	1	4	1	0	0	0	0	1	0	0	0	6409	1203	42	3	37	3	GIMAP6	7	150324841	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	18150703	150324841	8813822	71	447											
GALNT11	63917	hgsc.bcm.edu;bcgsc.ca	37	7	151802439	151802439	+	Silent	SNP	C	C	T	rs574571147		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr7:151802439C>T	ENST00000434507.1	+	7	1133	c.696C>T	c.(694-696)ggC>ggT	p.G232G	GALNT11_ENST00000430044.2_Silent_p.G232G|GALNT11_ENST00000320311.2_Silent_p.G232G|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000452146.2_Silent_p.G151G			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	232	Catalytic subdomain A.				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)		GAATGATTGGCGCGGCCCACG	0.473													C|||	1	0.000199681	0	0.0014	5008	,	,		16711	0		0	False		,,,				2504	0				p.G232G		.											.	.	.	0			c.C696T						.						99	97	97					7																	151802439		2203	4300	6503	SO:0001819	synonymous_variant	63917	exon5			GATTGGCGCGGCC	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.696C>T	7.37:g.151802439C>T		78	0		69	4	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	CCDS5930.1																																																																																			.		0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		T	151802439	C	T	151802439	2	4	4	1	0	0	0	0	0	0	0	1	6234	755	27	1		1	GALNT11	7	151802439	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	1477598	151802439	7336224	72	448											
LRRCC1	85444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	86057705	86057705	+	Missense_Mutation	SNP	C	C	A	rs372350812		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr8:86057705C>A	ENST00000360375.3	+	19	3207	c.3058C>A	c.(3058-3060)Caa>Aaa	p.Q1020K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.Q1000K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1020					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAAATTAAGCAACTTGCTTT	0.299																																					p.Q1020K		.											.	.	.	0			c.C3058A						.						55	52	53					8																	86057705		1809	4063	5872	SO:0001583	missense	85444	exon19			ATTAAGCAACTTG	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.3058C>A	8.37:g.86057705C>A	ENSP00000353538:p.Gln1020Lys	68	0		172	103	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026513	0.54683	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.28069	1.63;1.63	5.12	5.12	0.69794	.	.	.	.	.	T	0.26159	0.0638	L	0.41236	1.265	0.40726	D	0.982703	P;B;B	0.39022	0.655;0.264;0.214	B;B;B	0.35039	0.194;0.077;0.056	T	0.04796	-1.0926	9	0.18710	T	0.47	-9.5736	18.7286	0.91724	0.0:1.0:0.0:0.0	.	1000;927;1020	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	K	1020;1000	ENSP00000353538:Q1020K;ENSP00000394695:Q1000K	ENSP00000353538:Q1020K	Q	+	1	0	LRRCC1	86244957	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.356000	0.52269	2.647000	0.89833	0.491000	0.48974	CAA	.		0.299	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		A	86057705	C	A	86057705	3	1	4	1	0	0	0	0	1	0	0	0	9061	711	25	3	3132	3	LRRCC1	8	86057705	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		86057705	60306317	73	449											
MMP16	4325	broad.mit.edu	37	8	89053972	89053972	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr8:89053972A>T	ENST00000286614.6	-	10	1822	c.1541T>A	c.(1540-1542)aTa>aAa	p.I514K		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	514					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)	TACCTTGAGTATCTGGTTGTT	0.423																																					p.I514K													.	MMP16	176	0			c.T1541A						.						207	176	186					8																	89053972		2203	4300	6503	SO:0001583	missense	4325	exon10			TTGAGTATCTGGT	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.1541T>A	8.37:g.89053972A>T	ENSP00000286614:p.Ile514Lys	42	0		35	3	NM_005941	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	2.684	-0.274592	0.05679	.	.	ENSG00000156103	ENST00000286614	T	0.07114	3.22	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.347772	0.35970	N	0.002877	T	0.01695	0.0054	N	0.00176	-1.92	0.49130	D	0.999758	B	0.02656	0.0	B	0.01281	0.0	T	0.40997	-0.9533	10	0.02654	T	1	.	11.3518	0.49592	0.8646:0.0:0.0:0.1354	.	514	P51512	MMP16_HUMAN	K	514	ENSP00000286614:I514K	ENSP00000286614:I514K	I	-	2	0	MMP16	89123088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.735000	0.55044	2.232000	0.73038	0.533000	0.62120	ATA	.		0.423	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		T	89053972	A	T	89053972	3	4	4	1	0	0	0	0	1	0	0	0	9693	449	16	5	286	5	MMP16	8	89053972	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	2996267	89053972	57310050	74	450											
KIAA1429	25962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	95539408	95539408	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr8:95539408T>C	ENST00000297591.5	-	8	1139	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	KIAA1429_ENST00000437199.1_Missense_Mutation_p.Y355C|KIAA1429_ENST00000421249.2_Missense_Mutation_p.Y355C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	355					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)			AGTAGTCTTGTATGGACAACT	0.393																																					p.Y355C		.											.	.	.	0			c.A1064G						.						114	113	113					8																	95539408		2203	4300	6503	SO:0001583	missense	25962	exon8			GTCTTGTATGGAC	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.1064A>G	8.37:g.95539408T>C	ENSP00000297591:p.Tyr355Cys	22	0		46	27	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584671	0.46110	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46451	0.88;0.87;0.87	5.7	5.7	0.88788	.	0.141869	0.48767	D	0.000166	T	0.57799	0.2078	L	0.51422	1.61	0.49213	D	0.999763	D;D	0.71674	0.998;0.998	D;D	0.64776	0.929;0.929	T	0.59263	-0.7487	10	0.59425	D	0.04	-7.5852	15.9596	0.79918	0.0:0.0:0.0:1.0	.	355;355	Q69YN4-4;Q69YN4	.;VIR_HUMAN	C	355	ENSP00000297591:Y355C;ENSP00000395600:Y355C;ENSP00000398390:Y355C	ENSP00000297591:Y355C	Y	-	2	0	KIAA1429	95608584	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.922000	0.70036	2.171000	0.68590	0.402000	0.26972	TAC	.		0.393	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		C	95539408	T	C	95539408	3	2	4	1	0	0	0	0	1	0	0	0	8258	1638	57	4	4496	4	KIAA1429	8	95539408	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	6485436	95539408	50824614	75	451											
ANGPT1	284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	108315583	108315583	+	Missense_Mutation	SNP	C	C	A	rs549007148	byFrequency	TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr8:108315583C>A	ENST00000520734.1	-	4	506	c.221G>T	c.(220-222)gGa>gTa	p.G74V	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G73V			Q15389	ANGP1_HUMAN	angiopoietin 1	274					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|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 protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCTTTTTCCTCCCTTTAGTAA	0.308																																					p.G274V		.											.	.	.	0			c.G821T						.						81	92	88					8																	108315583		2202	4300	6502	SO:0001583	missense	284	exon5			TTTCCTCCCTTTA	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.221G>T	8.37:g.108315583C>A	ENSP00000430750:p.Gly74Val	47	0		122	32	NM_001146	Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	C	10.18	1.278980	0.23307	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.54071	0.59;1.04;0.61;0.62	4.45	4.45	0.53987	.	0.405081	0.26895	N	0.021945	T	0.35158	0.0922	L	0.33485	1.01	0.54753	D	0.99998	B;B;B	0.15473	0.013;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.001	T	0.19844	-1.0293	10	0.20519	T	0.43	.	5.2634	0.15586	0.0:0.7487:0.0:0.2513	.	73;274;274	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	V	274;273;86;74;73	ENSP00000428340:G274V;ENSP00000297450:G273V;ENSP00000430750:G74V;ENSP00000429349:G73V	ENSP00000297450:G273V	G	-	2	0	ANGPT1	108384759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.017000	0.40981	2.296000	0.77279	0.650000	0.86243	GGA	.		0.308	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		A	108315583	C	A	108315583	3	1	4	1	0	0	0	0	1	0	0	0	610	855	30	3	695	3	ANGPT1	8	108315583	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	12776175	108315583	38048439	76	452											
TAF2	6873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	120795791	120795791	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr8:120795791T>C	ENST00000378164.2	-	16	2240	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	648					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)			TACTGCCACATAAAATCAGCT	0.433																																					p.M648V		.											.	.	.	0			c.A1942G						.						95	89	91					8																	120795791		2203	4300	6503	SO:0001583	missense	6873	exon16			GCCACATAAAATC	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.1942A>G	8.37:g.120795791T>C	ENSP00000367406:p.Met648Val	35	0		39	28	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099746	0.76983	.	.	ENSG00000064313	ENST00000378164	T	0.41400	1.0	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.82193	2.58	0.80722	D	1	P	0.50710	0.938	P	0.46885	0.53	T	0.63862	-0.6541	10	0.62326	D	0.03	-32.2034	16.6407	0.85098	0.0:0.0:0.0:1.0	.	648	Q6P1X5	TAF2_HUMAN	V	648	ENSP00000367406:M648V	ENSP00000367406:M648V	M	-	1	0	TAF2	120864972	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	6.274000	0.72587	2.326000	0.78906	0.533000	0.62120	ATG	.		0.433	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		C	120795791	T	C	120795791	3	2	4	1	0	0	0	0	1	0	0	0	15571	1406	49	4	1701	4	TAF2	8	120795791	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	12480208	120795791	25568231	77	453											
ZNF250	58500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	146107584	146107584	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr8:146107584G>T	ENST00000292579.7	-	6	1115	c.999C>A	c.(997-999)caC>caA	p.H333Q	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.H328Q	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	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)			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)		TCTCCCCAGTGTGTACCCTCT	0.567																																					p.H333Q	NSCLC(16;520 556 24096 40084 43446)	.											.	.	.	0			c.C999A						.						76	55	62					8																	146107584		2203	4300	6503	SO:0001583	missense	58500	exon6			CCCAGTGTGTACC	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.999C>A	8.37:g.146107584G>T	ENSP00000292579:p.His333Gln	25	0		30	5	NM_021061	D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352445	0.61293	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.66995	-0.24;-0.24	3.94	3.94	0.45596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000082	D	0.86213	0.5879	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.90292	0.4323	10	0.87932	D	0	-33.4966	15.944	0.79779	0.0:0.0:1.0:0.0	.	328;333	D3DWP1;P15622	.;ZN250_HUMAN	Q	333;328;328	ENSP00000292579:H333Q;ENSP00000393442:H328Q	ENSP00000292579:H333Q	H	-	3	2	ZNF250	146078388	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.164000	0.50770	2.511000	0.84671	0.313000	0.20887	CAC	.		0.567	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		T	146107584	G	T	146107584	3	4	4	1	0	0	0	0	1	0	0	0	17843	1368	48	3	687	3	ZNF250	8	146107584	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	25311793	146107584	256438	78	454											
MLLT3	4300	hgsc.bcm.edu;bcgsc.ca	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|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	177	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)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																p.S177S		.		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	.	.	.	0			c.C531T						.						22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300	exon5			GCTACTGCTGCTG	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.531C>T	9.37:g.20414313G>A		44	0		48	4	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																			.		0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		A	20414313	G	A	20414313	2	1	4	1	0	0	0	0	0	0	0	1	9666	1310	46	3		3	MLLT3	9	20414313	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09		20414313	120799118	79	455											
PRUNE2	158471	hgsc.bcm.edu	37	9	79270373	79270373	+	Silent	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr9:79270373G>T	ENST00000376718.3	-	10	8445	c.8322C>A	c.(8320-8322)ggC>ggA	p.G2774G	PRUNE2_ENST00000223609.6_Silent_p.G38G|PRUNE2_ENST00000443509.2_Silent_p.G23G|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Silent_p.G2415G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2774					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.G2774G(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACTCAGCACGCCCTCTTCAA	0.458																																					p.G2774G		.											PRUNE2_ENST00000376718,colon,carcinoma,0,4	PRUNE2_ENST00000376718	0	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.C8322A						.						75	67	69					9																	79270373		1568	3582	5150	SO:0001819	synonymous_variant	158471	exon10			CAGCACGCCCTCT	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.8322C>A	9.37:g.79270373G>T		33	0		23	3	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761602	0.15914	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.74	-1.01	0.10169	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	-27.9261	0.7209	0.00940	0.1527:0.2162:0.2224:0.4087	.	.	.	.	S	2096	.	.	R	-	1	0	PRUNE2	78460193	0.016000	0.18221	0.838000	0.33150	0.781000	0.44180	-0.091000	0.11146	-0.312000	0.08741	-1.463000	0.01021	CGT	.		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79270373	G	T	79270373	2	4	4	1	0	0	0	0	0	0	0	1	12683	1074	38	2		2	PRUNE2	9	79270373	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	58856060	79270373	61943058	80	456											
WDR34	89891	hgsc.bcm.edu	37	9	131396553	131396553	+	Missense_Mutation	SNP	G	G	A	rs545394162		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr9:131396553G>A	ENST00000372715.2	-	8	1384	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	442						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						GGGGACCAGCGCACAGCAAAC	0.617													G|||	1	0.000199681	0	0	5008	,	,		16726	0		0	False		,,,				2504	0.001				p.R442C		.											WDR34,caecum,carcinoma,0,1	WDR34	0	0			c.C1324T						.						70	76	74					9																	131396553		2203	4300	6503	SO:0001583	missense	89891	exon8			ACCAGCGCACAGC	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.1324C>T	9.37:g.131396553G>A	ENSP00000361800:p.Arg442Cys	42	0		28	3	NM_052844	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068030	0.55539	.	.	ENSG00000119333	ENST00000372715	T	0.28666	1.6	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054497	0.64402	D	0.000001	T	0.34454	0.0898	M	0.74647	2.275	0.80722	D	1	B	0.25772	0.134	B	0.18871	0.023	T	0.14783	-1.0460	10	0.45353	T	0.12	-0.3061	13.1566	0.59520	0.0792:0.0:0.9208:0.0	.	442	Q96EX3	WDR34_HUMAN	C	442	ENSP00000361800:R442C	ENSP00000361800:R442C	R	-	1	0	WDR34	130436374	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.232000	0.43018	2.444000	0.82710	0.561000	0.74099	CGC	.		0.617	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		A	131396553	G	A	131396553	3	1	4	1	0	0	0	0	1	0	0	0	17337	1087	38	1	294	1	WDR34	9	131396553	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	52126180	131396553	9816878	81	457											
BEND7	222389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	13541852	13541852	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr10:13541852C>G	ENST00000396900.2	-	3	373	c.374G>C	c.(373-375)gGa>gCa	p.G125A	BEND7_ENST00000341083.3_Missense_Mutation_p.G73A|BEND7_ENST00000378605.3_Missense_Mutation_p.G73A|BEND7_ENST00000396898.2_Missense_Mutation_p.G125A			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	125						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGAGAACTGTCCACTCTGGGG	0.552																																					p.G73A		.											.	.	.	0			c.G218C						.						84	88	86					10																	13541852		2203	4300	6503	SO:0001583	missense	222389	exon2			AACTGTCCACTCT	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.374G>C	10.37:g.13541852C>G	ENSP00000380108:p.Gly125Ala	51	0		43	16	NM_001100912	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37		.	.	.	.	.	.	.	.	.	.	C	14.51	2.558132	0.45590	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.52057	0.68;0.68;0.71;0.71	6.0	5.1	0.69264	.	0.412825	0.29493	N	0.011989	T	0.40119	0.1104	L	0.50333	1.59	0.25448	N	0.988031	B;B	0.33171	0.044;0.4	B;B	0.30855	0.024;0.121	T	0.44667	-0.9313	10	0.66056	D	0.02	-8.6725	8.8138	0.34983	0.0:0.7425:0.1238:0.1337	.	125;73	E5RFC0;Q8N7W2-3	.;.	A	125;73;125;73	ENSP00000380108:G125A;ENSP00000345773:G73A;ENSP00000380107:G125A;ENSP00000367868:G73A	ENSP00000345773:G73A	G	-	2	0	BEND7	13581858	0.986000	0.35501	0.989000	0.46669	0.940000	0.58332	1.512000	0.35812	1.552000	0.49463	0.650000	0.86243	GGA	.		0.552	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		G	13541852	C	G	13541852	3	3	4	1	0	0	0	0	1	0	0	0	1404	855	30	5	1267	5	BEND7	10	13541852	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		13541852	121992895	82	458											
ANK3	288	hgsc.bcm.edu	37	10	61828580	61828580	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr10:61828580T>C	ENST00000280772.2	-	37	12250	c.12059A>G	c.(12058-12060)aAg>aGg	p.K4020R	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4020					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						GGACTGCATCTTTTTTTCTTC	0.458																																					p.K4020R		.											.,3	.	703	0			c.A12059G						.						118	115	116					10																	61828580		2203	4300	6503	SO:0001583	missense	288	exon37			TGCATCTTTTTTT	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.12059A>G	10.37:g.61828580T>C	ENSP00000280772:p.Lys4020Arg	77	0		66	3	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462552	0.63513	.	.	ENSG00000151150	ENST00000280772	T	0.18174	2.23	5.72	5.72	0.89469	.	0.000000	0.44097	D	0.000483	T	0.12050	0.0293	N	0.24115	0.695	0.80722	D	1	P	0.43094	0.799	B	0.33339	0.162	T	0.03795	-1.1003	10	0.59425	D	0.04	.	16.0157	0.80439	0.0:0.0:0.0:1.0	.	4020	Q12955	ANK3_HUMAN	R	4020	ENSP00000280772:K4020R	ENSP00000280772:K4020R	K	-	2	0	ANK3	61498586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.145000	0.71769	2.189000	0.69895	0.533000	0.62120	AAG	.		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61828580	T	C	61828580	3	2	4	1	0	0	0	0	1	0	0	0	622	1609	56	4	1415	4	ANK3	10	61828580	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	48286728	61828580	73706167	83	459											
VPS26A	9559	hgsc.bcm.edu	37	10	70916899	70916899	+	Silent	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr10:70916899C>A	ENST00000373382.1	+	5	1019	c.366C>A	c.(364-366)atC>atA	p.I122I	VPS26A_ENST00000395098.1_Silent_p.I122I|VPS26A_ENST00000489794.1_Silent_p.I97I|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_Silent_p.I105I|VPS26A_ENST00000541711.1_Silent_p.I11I|VPS26A_ENST00000263559.6_Silent_p.I122I			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	122					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)	p.I122I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AATCTTACATCGGTGCCAATG	0.353																																					p.I122I	Colon(90;545 1358 4729 6702 16773)	.											VPS26A,rectum,carcinoma,0,1	VPS26A	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C366A						.						103	100	101					10																	70916899		2203	4300	6503	SO:0001819	synonymous_variant	9559	exon4			TTACATCGGTGCC	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.366C>A	10.37:g.70916899C>A		68	0		50	2	NM_004896	A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	CCDS7286.1																																																																																			.		0.353	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		A	70916899	C	A	70916899	2	1	4	1	0	0	0	0	0	0	0	1	17246	874	31	2		2	VPS26A	10	70916899	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	9088319	70916899	64617848	84	460											
MUC6	4588	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860). {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)	p.S2130delS(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)		GGGAGAAAATGAGGAGGACAGCT	0.522																																					p.2130_2130del		.											.	.	.	1	Deletion - In frame(1)	stomach(1)	c.6388_6390del						.			1,3949		0,1,1974						2.9	0			96	0,8040		0,0,4020	no	coding	MUC6	NM_005961.2		0,1,5994	A1A1,A1R,RR		0.0,0.0253,0.0083				1,11989				SO:0001651	inframe_deletion	4588	exon31			GAAAATGAGGAGG	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.6387_6389delCTC	11.37:g.1016415_1016417delGAG	ENSP00000406861:p.Ser2130del	27	0		43	14	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	CCDS44513.1																																																																																			.		0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		-	1016414	GAG	-	1016412	7	5	4	1	0	1	0	1	0	0	0	0	10018	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-3X-AAVC-01A-21D-A417-09		1016412	133990104	85	461											
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651115	1651115	+	Silent	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:1651115A>G	ENST00000399676.2	+	1	83	c.45A>G	c.(43-45)ggA>ggG	p.G15G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	15						keratin filament (GO:0045095)		p.G15G(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)		ccggctgtggaggccgtggct	0.692																																					p.G15G		.											KRTAP5-5,NS,carcinoma,0,1	KRTAP5-5	0	1	Substitution - coding silent(1)	endometrium(1)	c.A45G						.						28	34	32					11																	1651115		2115	4104	6219	SO:0001819	synonymous_variant	439915	exon1			CTGTGGAGGCCGT	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.45A>G	11.37:g.1651115A>G		71	0		69	4	NM_001001480	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			G	1651115	A	G	1651115	2	3	4	1	0	0	0	0	0	0	0	1	8592	291	11	4		4	KRTAP5-5	11	1651115	Silent	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	634703	1651115	133355401	86	462											
CD59	966	hgsc.bcm.edu	37	11	33731761	33731761	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:33731761G>A	ENST00000395850.3	-	4	373	c.298C>T	c.(298-300)Ctt>Ttt	p.L100F	CD59_ENST00000437761.2_Missense_Mutation_p.L100F|CD59_ENST00000534312.1_Missense_Mutation_p.L100F|CD59_ENST00000415002.2_Missense_Mutation_p.L100F|CD59_ENST00000528700.1_Missense_Mutation_p.L100F|CD59_ENST00000527577.1_Missense_Mutation_p.L100F|CD59_ENST00000351554.3_Missense_Mutation_p.L100F|CD59_ENST00000445143.2_Missense_Mutation_p.L100F|CD59_ENST00000426650.2_Missense_Mutation_p.L100F|CD59_ENST00000533403.1_3'UTR	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	100	UPAR/Ly6.				blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						CCATTTTCAAGCTGTTCGTTA	0.468																																					p.L100F		.											.	.	.	0			c.C298T						.						169	132	145					11																	33731761		2202	4298	6500	SO:0001583	missense	966	exon5			TTTCAAGCTGTTC		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"CD molecules", "Complement system"	1689	protein-coding gene	gene with protein product		107271	"CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)", "CD59 antigen, complement regulatory protein"	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.298C>T	11.37:g.33731761G>A	ENSP00000379191:p.Leu100Phe	95	0		65	4	NM_203331		Missense_Mutation	SNP	ENST00000395850.3	37	CCDS7886.1	.	.	.	.	.	.	.	.	.	.	G	4.212	0.038107	0.08148	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;T;T;T;T;T;T;T;T	0.93019	-3.15;-3.12;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85	1.81	-3.62	0.04543	Ly-6 antigen / uPA receptor -like (1);	.	.	.	.	D	0.86041	0.5838	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69818	-0.5042	9	0.22706	T	0.39	.	0.2547	0.00210	0.3064:0.2037:0.285:0.2049	.	100	P13987	CD59_HUMAN	F	100	ENSP00000432362:L100F;ENSP00000437122:L100F;ENSP00000379191:L100F;ENSP00000340210:L100F;ENSP00000404822:L100F;ENSP00000403511:L100F;ENSP00000402425:L100F;ENSP00000410182:L100F;ENSP00000432942:L100F;ENSP00000434617:L100F	ENSP00000340210:L100F	L	-	1	0	CD59	33688337	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.318000	0.01121	-1.143000	0.02866	0.467000	0.42956	CTT	.		0.468	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329		A	33731761	G	A	33731761	3	1	4	1	0	0	0	0	1	0	0	0	3033	971	34	3	92	3	CD59	11	33731761	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	32080646	33731761	101274755	87	463											
TSPAN18	90139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	44941490	44941490	+	Silent	SNP	C	C	T	rs558236701		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:44941490C>T	ENST00000520358.2	+	8	970	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TSPAN18_ENST00000340160.3_Silent_p.D185D			Q96SJ8	TSN18_HUMAN	tetraspanin 18	185						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						AAAGTCGGGACGGGGTCCTGC	0.597													C|||	1	0.000199681	0	0	5008	,	,		17560	0		0.001	False		,,,				2504	0				p.D185D		.											.	.	.	0			c.C555T						.						81	85	84					11																	44941490		2203	4299	6502	SO:0001819	synonymous_variant	90139	exon7			TCGGGACGGGGTC	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.555C>T	11.37:g.44941490C>T		45	0		33	13	NM_130783	Q6UY44|Q8NBI9	Silent	SNP	ENST00000520358.2	37	CCDS7910.1	.	.	.	.	.	.	.	.	.	.	C	9.221	1.033441	0.19590	.	.	ENSG00000157570	ENST00000518429	.	.	.	5.27	-6.9	0.01655	.	.	.	.	.	T	0.32496	0.0831	.	.	.	0.32327	N	0.561621	.	.	.	.	.	.	T	0.44267	-0.9339	4	.	.	.	.	6.8085	0.23790	0.1032:0.1301:0.1023:0.6644	.	.	.	.	W	189	.	.	R	+	1	2	TSPAN18	44898066	0.000000	0.05858	0.616000	0.29078	0.966000	0.64601	-3.223000	0.00551	-1.011000	0.03391	-0.224000	0.12420	CGG	.		0.597	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		T	44941490	C	T	44941490	2	4	4	1	0	0	0	0	0	0	0	1	16690	535	19	1		1	TSPAN18	11	44941490	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	11209729	44941490	90065026	88	464											
UBE2L6	9246	broad.mit.edu	37	11	57322034	57322034	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:57322034C>T	ENST00000287156.4	-	3	381	c.186G>A	c.(184-186)ccG>ccA	p.P62P	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	62					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)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						GAGGCTTGAACGGATACTCCG	0.537																																					p.P62P													.	UBE2L6	20	0			c.G186A						.						188	173	178					11																	57322034		2201	4296	6497	SO:0001819	synonymous_variant	9246	exon3			CTTGAACGGATAC	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"Ubiquitin-conjugating enzymes E2"	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.186G>A	11.37:g.57322034C>T		44	1		35	4	NM_004223	A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	CCDS7960.1																																																																																			.		0.537	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		T	57322034	C	T	57322034	2	4	4	1	0	0	0	0	0	0	0	1	16913	523	19	1		1	UBE2L6	11	57322034	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	12380544	57322034	77684482	89	465											
OR9I1	219954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	57886193	57886193	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:57886193C>T	ENST00000302610.1	-	1	723	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	242						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)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ATGTGAGAGGCACATGTGGAG	0.488																																					p.A242T		.											.	.	.	0			c.G724A						.						110	94	100					11																	57886193		2201	4296	6497	SO:0001583	missense	219954	exon1			GAGAGGCACATGT	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.724G>A	11.37:g.57886193C>T	ENSP00000302606:p.Ala242Thr	17	0		12	5	NM_001005211	Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260054	0.23051	.	.	ENSG00000172377	ENST00000302610	T	0.36878	1.23	4.87	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.311519	0.22937	N	0.053826	T	0.21468	0.0517	L	0.28608	0.87	0.20821	N	0.999844	B	0.23591	0.088	B	0.24541	0.054	T	0.13176	-1.0519	10	0.37606	T	0.19	-9.0047	3.684	0.08321	0.1348:0.581:0.131:0.1533	.	242	Q8NGQ6	OR9I1_HUMAN	T	242	ENSP00000302606:A242T	ENSP00000302606:A242T	A	-	1	0	OR9I1	57642769	0.000000	0.05858	0.684000	0.30055	0.536000	0.34869	-2.396000	0.01052	0.361000	0.24292	0.467000	0.42956	GCC	.		0.488	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		T	57886193	C	T	57886193	3	4	4	1	0	0	0	0	1	0	0	0	11292	710	25	3	224	3	OR9I1	11	57886193	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	564159	57886193	77120323	90	466											
OR1S1	219959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	57982413	57982413	+	Missense_Mutation	SNP	C	C	T	rs386753888|rs140365237		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:57982413C>T	ENST00000309433.6	+	1	197	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, 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)	p.T66M(2)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGCTTGGATACGTACCTTCAT	0.448																																					p.T66M		.											OR1S1,NS,carcinoma,-1,3	OR1S1	-1	2	Substitution - Missense(2)	urinary_tract(1)|endometrium(1)	c.C197T						.						331	303	313					11																	57982413		2201	4296	6497	SO:0001583	missense	219959	exon1			TGGATACGTACCT	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.197C>T	11.37:g.57982413C>T	ENSP00000311688:p.Thr66Met	89	0		62	35	NM_001004458	Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	0.652	-0.809268	0.02798	.	.	ENSG00000172774	ENST00000309433	T	0.01099	5.34	3.45	0.0887	0.14455	GPCR, rhodopsin-like superfamily (1);	0.804300	0.10727	N	0.641081	T	0.01523	0.0049	L	0.55834	1.745	0.09310	N	1	B	0.20550	0.046	B	0.12837	0.008	T	0.41716	-0.9493	10	0.72032	D	0.01	.	5.9969	0.19499	0.464:0.4385:0.0:0.0974	.	66	Q8NH92	OR1S1_HUMAN	M	66	ENSP00000311688:T66M	ENSP00000311688:T66M	T	+	2	0	OR1S1	57738989	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.633000	0.05483	-0.185000	0.10550	-0.532000	0.04303	ACG	0.000		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		T	57982413	C	T	57982413	3	4	4	1	0	0	0	0	1	0	0	0	11011	536	19	1	199	1	OR1S1	11	57982413	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	96220	57982413	77024103	91	467											
TMEM132A	54972	ucsc.edu;bcgsc.ca	37	11	60696291	60696291	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:60696291C>T	ENST00000453848.2	+	4	883	c.725C>T	c.(724-726)gCa>gTa	p.A242V	TMEM132A_ENST00000005286.4_Missense_Mutation_p.A242V			Q24JP5	T132A_HUMAN	transmembrane protein 132A	242						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						CTGCGCCCAGCAGACCCCCCG	0.692																																					p.A242V													.	TMEM132A	135	0			c.C725T						.						22	23	23					11																	60696291		2200	4291	6491	SO:0001583	missense	54972	exon4			GCCCAGCAGACCC	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.725C>T	11.37:g.60696291C>T	ENSP00000405823:p.Ala242Val	27	0		30	4	NM_178031	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	5.437	0.265789	0.10294	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.06068	3.35;3.35	4.38	2.35	0.29111	.	0.577689	0.15222	N	0.273917	T	0.05181	0.0138	L	0.38838	1.175	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.13407	0.009;0.009;0.009	T	0.38650	-0.9651	10	0.87932	D	0	.	2.8119	0.05444	0.3288:0.4252:0.1529:0.0931	.	231;242;242	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	242	ENSP00000405823:A242V;ENSP00000005286:A242V	ENSP00000005286:A242V	A	+	2	0	TMEM132A	60452867	0.000000	0.05858	0.279000	0.24732	0.258000	0.26162	-0.180000	0.09754	0.336000	0.23639	0.555000	0.69702	GCA	.		0.692	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		T	60696291	C	T	60696291	3	4	4	1	0	0	0	0	1	0	0	0	16092	710	25	3	739	3	TMEM132A	11	60696291	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	2713878	60696291	74310225	92	468											
EIF1AD	84285	broad.mit.edu;ucsc.edu	37	11	65767103	65767103	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:65767103C>T	ENST00000312234.2	-	4	574	c.240G>A	c.(238-240)gtG>gtA	p.V80V	EIF1AD_ENST00000533544.1_Silent_p.V80V|BANF1_ENST00000445560.2_5'Flank|EIF1AD_ENST00000525767.1_Silent_p.V28V|BANF1_ENST00000533166.1_5'Flank|EIF1AD_ENST00000526451.1_Silent_p.V80V|EIF1AD_ENST00000527249.1_Silent_p.V80V|EIF1AD_ENST00000529964.1_Silent_p.V80V|BANF1_ENST00000312175.2_5'Flank	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	80	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						TTTCAGCCTTCACCTTTTCTC	0.493																																					p.V80V													.	EIF1AD	10	0			c.G240A						.						125	110	115					11																	65767103		2201	4296	6497	SO:0001819	synonymous_variant	84285	exon4			AGCCTTCACCTTT	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.240G>A	11.37:g.65767103C>T		15	0		19	4	NM_001242483	B2R4N5|Q9BSC1	Silent	SNP	ENST00000312234.2	37	CCDS8124.1																																																																																			.		0.493	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		T	65767103	C	T	65767103	2	4	4	1	0	0	0	0	0	0	0	1	5005	813	29	3		3	EIF1AD	11	65767103	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	5070812	65767103	69239413	93	469											
PACS1	55690	hgsc.bcm.edu	37	11	65978677	65978677	+	Missense_Mutation	SNP	C	C	T	rs398123009		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:65978677C>T	ENST00000320580.4	+	4	640	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	203			R -> W (in MRD17). {ECO:0000269|PubMed:23159249}.	Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.R203W(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTACAAGAATCGGACCATCTT	0.488																																					p.R203W		.											PACS1,NS,carcinoma,0,1	PACS1	0	1	Substitution - Missense(1)	ovary(1)	c.C607T						.						201	168	179					11																	65978677		2201	4295	6496	SO:0001583	missense	55690	exon4			AAGAATCGGACCA	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.607C>T	11.37:g.65978677C>T	ENSP00000316454:p.Arg203Trp	52	0		39	3	NM_018026	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102284	0.76983	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.38077	1.16	4.79	4.79	0.61399	.	0.111023	0.64402	D	0.000006	T	0.63331	0.2502	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.948;0.987	T	0.69083	-0.5239	10	0.87932	D	0	-22.9264	12.765	0.57386	0.1648:0.8352:0.0:0.0	.	203;203	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	W	203;100;105	ENSP00000316454:R203W	ENSP00000316454:R203W	R	+	1	2	PACS1	65735253	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.044000	0.41241	2.659000	0.90383	0.313000	0.20887	CGG	.		0.488	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		T	65978677	C	T	65978677	3	4	4	1	0	0	0	0	1	0	0	0	11411	875	31	1	621	1	PACS1	11	65978677	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	211574	65978677	69027839	94	470											
BCO2	83875	hgsc.bcm.edu	37	11	112071442	112071442	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr11:112071442C>A	ENST00000357685.5	+	7	1107	c.972C>A	c.(970-972)agC>agA	p.S324R	BCO2_ENST00000393032.2_Missense_Mutation_p.S290R|BCO2_ENST00000531169.1_Missense_Mutation_p.S290R|BCO2_ENST00000526088.1_Missense_Mutation_p.S290R|BCO2_ENST00000532593.1_Missense_Mutation_p.S219R|BCO2_ENST00000438022.1_Missense_Mutation_p.S290R|BCO2_ENST00000361053.4_Missense_Mutation_p.S251R			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	324					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						ATGGGATAAGCTGGGAACCCC	0.388																																					p.S324R	GBM(177;1916 2099 21049 29541 39946)	.											.	.	.	0			c.C972A						.						116	119	118					11																	112071442		2201	4297	6498	SO:0001583	missense	83875	exon7			GATAAGCTGGGAA	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.972C>A	11.37:g.112071442C>A	ENSP00000350314:p.Ser324Arg	61	0		78	4	NM_031938	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554103	0.45487	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.54	3.62	0.41486	.	0.232360	0.53938	N	0.000050	D	0.94272	0.8160	L	0.41415	1.275	0.38599	D	0.950619	P;D;P;P	0.61080	0.939;0.989;0.939;0.891	P;P;P;P	0.61477	0.889;0.856;0.842;0.666	D	0.93254	0.6637	10	0.44086	T	0.13	-20.2743	10.9061	0.47081	0.0:0.7987:0.1308:0.0705	.	301;251;324;151	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	R	324;290;251;290;290;219;290	ENSP00000350314:S324R;ENSP00000376752:S290R;ENSP00000354338:S251R;ENSP00000414843:S290R;ENSP00000436615:S290R;ENSP00000431802:S219R;ENSP00000437053:S290R	ENSP00000350314:S324R	S	+	3	2	BCO2	111576652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.364000	0.52328	0.670000	0.31165	0.585000	0.79938	AGC	.		0.388	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		A	112071442	C	A	112071442	3	1	4	1	0	0	0	0	1	0	0	0	1386	796	28	3	998	3	BCO2	11	112071442	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	46092765	112071442	22935074	95	471											
SLC6A12	6539	hgsc.bcm.edu	37	12	307123	307123	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr12:307123C>T	ENST00000428720.1	-	9	1636	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	SLC6A12_ENST00000359674.4_Missense_Mutation_p.C298Y|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.C298Y|SLC6A12_ENST00000397296.2_Missense_Mutation_p.C298Y|SLC6A12_ENST00000424061.2_Missense_Mutation_p.C298Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	298					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)			GCACCCCTGGCAGATGGCAAA	0.597																																					p.C298Y		.											SLC6A12,NS,carcinoma,0,1	SLC6A12	0	0			c.G893A						.						72	81	78					12																	307123		2203	4300	6503	SO:0001583	missense	6539	exon9			CCCTGGCAGATGG	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.893G>A	12.37:g.307123C>T	ENSP00000388184:p.Cys298Tyr	34	0		34	2	NM_001122848	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236941	0.79800	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	3.95	3.95	0.45737	.	0.056774	0.64402	D	0.000001	D	0.91071	0.7190	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94533	0.7738	10	0.66056	D	0.02	.	16.2044	0.82114	0.0:1.0:0.0:0.0	.	298	P48065	S6A12_HUMAN	Y	298	ENSP00000352702:C298Y;ENSP00000380464:C298Y;ENSP00000388184:C298Y;ENSP00000399136:C298Y;ENSP00000444268:C298Y	ENSP00000352702:C298Y	C	-	2	0	SLC6A12	177384	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.543000	0.82106	2.041000	0.60428	0.561000	0.74099	TGC	.		0.597	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		T	307123	C	T	307123	3	4	4	1	0	0	0	0	1	0	0	0	14720	710	25	3	983	3	SLC6A12	12	307123	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		307123	133544772	96	472											
ATF7IP	55729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	14576921	14576921	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr12:14576921G>A	ENST00000540793.1	+	1	227	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ATF7IP_ENST00000543189.1_Silent_p.Q24Q|ATF7IP_ENST00000536444.1_Silent_p.Q24Q|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000544627.1_Silent_p.Q32Q|ATF7IP_ENST00000261168.4_Silent_p.Q24Q			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	24					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						GTGATCGTCAGCAACTTGAAG	0.388																																					p.Q24Q		.											.	.	.	0			c.G72A						.						87	77	81					12																	14576921		2203	4300	6503	SO:0001819	synonymous_variant	55729	exon2			TCGTCAGCAACTT	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.72G>A	12.37:g.14576921G>A		86	0		84	57	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	CCDS8663.1																																																																																			.		0.388	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		A	14576921	G	A	14576921	2	1	4	1	0	0	0	0	0	0	0	1	1088	962	34	3		3	ATF7IP	12	14576921	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	14269798	14576921	119274974	97	473											
SLC38A1	81539	hgsc.bcm.edu	37	12	46633559	46633559	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr12:46633559C>T	ENST00000398637.5	-	3	719	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	SLC38A1_ENST00000549049.1_Missense_Mutation_p.E9K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E9K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E9K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E9K|SLC38A1_ENST00000549633.1_Intron	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	9					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCAGTTAATTCGAGTCCACTT	0.358																																					p.E9K		.											SLC38A1,NS,carcinoma,0,1	SLC38A1	0	0			c.G25A						.						150	135	140					12																	46633559		1871	4119	5990	SO:0001583	missense	81539	exon3			TTAATTCGAGTCC	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.25G>A	12.37:g.46633559C>T	ENSP00000381634:p.Glu9Lys	45	0		48	2	NM_030674	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839159	0.91117	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.08008	3.35;3.35;3.35;3.35;3.14	5.11	5.11	0.69529	.	0.000000	0.56097	D	0.000029	T	0.14614	0.0353	N	0.08118	0	0.48040	D	0.999571	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.959	T	0.39313	-0.9620	10	0.56958	D	0.05	-20.3596	18.9275	0.92550	0.0:1.0:0.0:0.0	.	9;9	F8VX04;Q9H2H9	.;S38A1_HUMAN	K	9	ENSP00000449607:E9K;ENSP00000398142:E9K;ENSP00000381634:E9K;ENSP00000447853:E9K;ENSP00000449756:E9K	ENSP00000381634:E9K	E	-	1	0	SLC38A1	44919826	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.908000	0.63307	2.541000	0.85698	0.585000	0.79938	GAA	.		0.358	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			T	46633559	C	T	46633559	3	4	4	1	0	0	0	0	1	0	0	0	14646	893	31	1	1498	1	SLC38A1	12	46633559	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	32056638	46633559	87218336	98	474											
C12orf10	60314	hgsc.bcm.edu	37	12	53700882	53700882	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr12:53700882C>T	ENST00000267103.5	+	7	1132	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	C12orf10_ENST00000548632.1_Silent_p.S285S|C12orf10_ENST00000549488.1_Silent_p.S197S|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	360					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTGCCTTGAGCATGGCCCGTG	0.572																																					p.S360S		.											.	.	.	0			c.C1080T						.						81	78	79					12																	53700882		2202	4300	6502	SO:0001819	synonymous_variant	60314	exon7			CTTGAGCATGGCC	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.1080C>T	12.37:g.53700882C>T		57	0		38	3	NM_021640		Silent	SNP	ENST00000267103.5	37	CCDS31810.1																																																																																			.		0.572	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		T	53700882	C	T	53700882	2	4	4	1	0	0	0	0	0	0	0	1	1679	709	25	3		3	C12orf10	12	53700882	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	7067323	53700882	80151013	99	475											
XPOT	11260	hgsc.bcm.edu	37	12	64823857	64823857	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr12:64823857G>T	ENST00000332707.5	+	17	2295	c.1766G>T	c.(1765-1767)aGc>aTc	p.S589I		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	589	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.S589N(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTACTGAGCAGCGATGATCAA	0.363																																					p.S589I		.											XPOT,caecum,carcinoma,-1,1	XPOT	-1	1	Substitution - Missense(1)	breast(1)	c.G1766T						.						74	72	72					12																	64823857		2203	4300	6503	SO:0001583	missense	11260	exon17			TGAGCAGCGATGA	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1766G>T	12.37:g.64823857G>T	ENSP00000327821:p.Ser589Ile	51	0		41	2	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897324	0.52121	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.51817	0.69;1.48	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.039754	0.85682	D	0.000000	T	0.44540	0.1298	L	0.54323	1.7	0.80722	D	1	P	0.36110	0.537	B	0.31686	0.134	T	0.37150	-0.9718	9	.	.	.	.	19.2838	0.94063	0.0:0.0:1.0:0.0	.	589	O43592	XPOT_HUMAN	I	589;111	ENSP00000327821:S589I;ENSP00000444345:S111I	.	S	+	2	0	XPOT	63110124	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	9.331000	0.96430	2.646000	0.89796	0.650000	0.86243	AGC	.		0.363	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		T	64823857	G	T	64823857	3	4	4	1	0	0	0	0	1	0	0	0	17499	971	34	3	1828	3	XPOT	12	64823857	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	11122975	64823857	69028038	100	476											
EPYC	1833	hgsc.bcm.edu	37	12	91371911	91371911	+	Silent	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr12:91371911G>T	ENST00000261172.3	-	3	386	c.294C>A	c.(292-294)ccC>ccA	p.P98P		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	98					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						CAGGCTCCTGGGGAGAAGAGC	0.527											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P98P		.											EPYC,NS,carcinoma,0,1	EPYC	0	0			c.C294A						.						125	122	123					12																	91371911		2203	4300	6503	SO:0001819	synonymous_variant	1833	exon3			CTCCTGGGGAGAA	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.294C>A	12.37:g.91371911G>T		49	0	1282	53	2	NM_004950	A8K3M7|Q8NEJ5	Silent	SNP	ENST00000261172.3	37	CCDS31870.1																																																																																			.		0.527	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		T	91371911	G	T	91371911	2	4	4	1	0	0	0	0	0	0	0	1	5217	1219	43	3		3	EPYC	12	91371911	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	26548054	91371911	42479984	101	477											
C12orf51	283450	hgsc.bcm.edu	37	12	112605160	112605160	+	Silent	SNP	C	C	A	rs201036210		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr12:112605160C>A	ENST00000430131.2	-	71	12374	c.11229G>T	c.(11227-11229)gcG>gcT	p.A3743A	HECTD4_ENST00000550722.1_Silent_p.A4019A|HECTD4_ENST00000377560.5_Silent_p.A3993A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3743	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										TGAGGATATCCGCTTCCTGCA	0.617																																					p.A4031A		.											C12orf51_ENST00000377560,right_lower_lobe,carcinoma,0,2	C12orf51_ENST00000377560	0	0			c.G12093T						.						84	91	89					12																	112605160		2052	4176	6228	SO:0001819	synonymous_variant	283450	exon72			GATATCCGCTTCC	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.11229G>T	12.37:g.112605160C>A		49	0		39	2	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																				.		0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		A	112605160	C	A	112605160	2	1	4	1	0	0	0	0	0	0	0	1	1701	639	23	2		2	C12orf51	12	112605160	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	21233249	112605160	21246735	102	478											
SKA3	221150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	21742376	21742376	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr13:21742376C>T	ENST00000314759.5	-	4	618	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	SKA3_ENST00000400018.3_Missense_Mutation_p.R165Q	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	165					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.R165Q(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TACGATGTACCGCTCAAGTCC	0.443																																					p.R165Q		.											SKA3,NS,carcinoma,0,1	SKA3	0	2	Substitution - Missense(2)	endometrium(2)	c.G494A						.						146	150	148					13																	21742376		2203	4300	6503	SO:0001583	missense	221150	exon4			ATGTACCGCTCAA	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.494G>A	13.37:g.21742376C>T	ENSP00000319417:p.Arg165Gln	60	0		58	18	NM_145061	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543876	0.86022	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.22945	1.93;1.93	5.88	4.86	0.63082	.	0.426709	0.25851	N	0.027900	T	0.39600	0.1084	L	0.60455	1.87	0.23809	N	0.996787	D;D	0.76494	0.999;0.999	D;D	0.63192	0.912;0.912	T	0.17561	-1.0365	10	0.33141	T	0.24	-10.2206	9.3154	0.37930	0.0:0.862:0.0:0.138	.	165;165	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	Q	165	ENSP00000319417:R165Q;ENSP00000382896:R165Q	ENSP00000319417:R165Q	R	-	2	0	SKA3	20640376	0.977000	0.34250	1.000000	0.80357	0.996000	0.88848	2.160000	0.42348	2.780000	0.95670	0.655000	0.94253	CGG	.		0.443	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		T	21742376	C	T	21742376	3	4	4	1	0	0	0	0	1	0	0	0	14399	652	23	1	815	1	SKA3	13	21742376	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		21742376	93427502	103	479											
SACS	26278	hgsc.bcm.edu	37	13	23911856	23911856	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr13:23911856C>A	ENST00000382292.3	-	9	6432	c.6159G>T	c.(6157-6159)gaG>gaT	p.E2053D	SACS_ENST00000402364.1_Missense_Mutation_p.E1303D|SACS_ENST00000382298.3_Missense_Mutation_p.E2053D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2053					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)		AAAACTGTTTCTCTGAAAATG	0.328																																					p.E2053D		.											.	.	.	0			c.G6159T						.						25	28	27					13																	23911856		2191	4289	6480	SO:0001583	missense	26278	exon10			CTGTTTCTCTGAA	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.6159G>T	13.37:g.23911856C>A	ENSP00000371729:p.Glu2053Asp	62	0		98	4	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277273	0.40294	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.21;-2.36;-2.21	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	L	0.56769	1.78	0.38477	D	0.947626	P	0.47762	0.9	P	0.47299	0.543	D	0.88851	0.3319	10	0.52906	T	0.07	.	9.7457	0.40446	0.0:0.8104:0.0:0.1896	.	2053	Q9NZJ4	SACS_HUMAN	D	2053;1303;2053	ENSP00000371729:E2053D;ENSP00000385844:E1303D;ENSP00000371735:E2053D	ENSP00000371729:E2053D	E	-	3	2	SACS	22809856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.981000	0.40628	2.706000	0.92434	0.561000	0.74099	GAG	.		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23911856	C	A	23911856	3	1	4	1	0	0	0	0	1	0	0	0	13849	912	32	3	7584	3	SACS	13	23911856	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	2169480	23911856	91258022	104	480											
LNX2	222484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	28122525	28122525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr13:28122525G>A	ENST00000316334.3	-	10	2149	c.2020C>T	c.(2020-2022)Cag>Tag	p.Q674*		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	674	PDZ 4. {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)		TTGTTCCTCTGCTCCTTCAAC	0.453																																					p.Q674X		.											.	.	.	0			c.C2020T						.						104	82	90					13																	28122525		2203	4300	6503	SO:0001587	stop_gained	222484	exon10			TCCTCTGCTCCTT	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.2020C>T	13.37:g.28122525G>A	ENSP00000325929:p.Gln674*	41	0		41	9	NM_153371	Q5W0P0|Q6ZMH2|Q96SH4	Nonsense_Mutation	SNP	ENST00000316334.3	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	G	40	8.230804	0.98717	.	.	ENSG00000139517	ENST00000316334	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.4379	0.99098	0.0:0.0:1.0:0.0	.	.	.	.	X	674	.	ENSP00000325929:Q674X	Q	-	1	0	LNX2	27020525	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.011000	0.88624	2.838000	0.97847	0.585000	0.79938	CAG	.		0.453	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			A	28122525	G	A	28122525	4	1	4	1	0	0	0	0	0	1	0	0	8896	1328	46	3	56	3	LNX2	13	28122525	Nonsense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	4210669	28122525	87047353	105	481											
BRCA2	675	hgsc.bcm.edu;bcgsc.ca	37	13	32914379	32914379	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr13:32914379G>T	ENST00000380152.3	+	11	6120	c.5887G>T	c.(5887-5889)Ggg>Tgg	p.G1963W	BRCA2_ENST00000544455.1_Missense_Mutation_p.G1963W			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1963					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)		ATGTAGTATAGGGAAGCTTCA	0.348			"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.G1963W	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	.	.	.	0			c.G5887T						.						86	94	92					13																	32914379		2203	4299	6502	SO:0001583	missense	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)	AGTATAGGGAAGC	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.5887G>T	13.37:g.32914379G>T	ENSP00000369497:p.Gly1963Trp	65	0		81	4	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280811	0.23392	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	5.72	5.72	0.89469	.	0.449096	0.21013	N	0.081651	T	0.03178	0.0093	M	0.67953	2.075	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.45877	-0.9231	10	0.37606	T	0.19	.	10.9018	0.47056	0.1126:0.0:0.8874:0.0	.	1963	P51587	BRCA2_HUMAN	W	1963	ENSP00000369497:G1963W;ENSP00000439902:G1963W	ENSP00000369497:G1963W	G	+	1	0	BRCA2	31812379	0.001000	0.12720	0.006000	0.13384	0.016000	0.09150	1.070000	0.30653	2.717000	0.92951	0.655000	0.94253	GGG	.		0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		T	32914379	G	T	32914379	3	4	4	1	0	0	0	0	1	0	0	0	1503	1000	35	3	5925	3	BRCA2	13	32914379	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	4791854	32914379	82255499	106	482											
SUGT1	10910	broad.mit.edu	37	13	53240953	53240953	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr13:53240953G>T	ENST00000343788.6	+	11	704	c.622G>T	c.(622-624)Gct>Tct	p.A208S	SUGT1_ENST00000535397.1_Missense_Mutation_p.A120S|SUGT1_ENST00000310528.8_Missense_Mutation_p.A176S	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	208	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TTAGTTGTCTGCTTTGGTTAA	0.308																																					p.A208S													.	SUGT1	37	0			c.G622T						.						86	82	84					13																	53240953		2203	4298	6501	SO:0001583	missense	10910	exon11			TTGTCTGCTTTGG	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.622G>T	13.37:g.53240953G>T	ENSP00000367208:p.Ala208Ser	57	0		67	3	NM_001130912	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038331	0.93630	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.14144	2.53;2.53;2.53	6.07	6.07	0.98685	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.047832	0.85682	D	0.000000	T	0.42787	0.1218	M	0.81341	2.54	0.58432	D	0.999999	P;D;D;D	0.63880	0.93;0.993;0.993;0.992	P;D;D;D	0.70016	0.649;0.959;0.967;0.928	T	0.19128	-1.0315	10	0.72032	D	0.01	-15.6618	19.4154	0.94694	0.0:0.0:1.0:0.0	.	120;120;208;176	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	S	208;120;176	ENSP00000367208:A208S;ENSP00000443521:A120S;ENSP00000308067:A176S	ENSP00000308067:A176S	A	+	1	0	SUGT1	52138954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.935000	0.70145	2.884000	0.98904	0.655000	0.94253	GCT	.		0.308	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			T	53240953	G	T	53240953	3	4	4	1	0	0	0	0	1	0	0	0	15416	1319	46	3	664	3	SUGT1	13	53240953	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	20326574	53240953	61928925	107	483											
EDNRB	1910	hgsc.bcm.edu	37	13	78492579	78492579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr13:78492579C>A	ENST00000334286.5	-	1	366	c.130G>T	c.(130-132)Gag>Tag	p.E44*	EDNRB_ENST00000377211.4_Nonsense_Mutation_p.E134*|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.E44*|EDNRB_ENST00000475537.1_5'UTR	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	44					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|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 penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTCATTATCTCTGCGGTTTGC	0.627																																					p.E134X		.											EDNRB_ENST00000446573,NS,malignant_melanoma,0,3	EDNRB_ENST00000446573	0	0			c.G400T						.						67	71	70					13																	78492579		2203	4300	6503	SO:0001587	stop_gained	1910	exon2			TTATCTCTGCGGT	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.130G>T	13.37:g.78492579C>A	ENSP00000335311:p.Glu44*	49	0		43	3	NM_001201397	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718668	0.89205	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	4.04	3.19	0.36642	.	0.471479	0.23273	N	0.049995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-9.2155	7.7686	0.28995	0.0:0.8831:0.0:0.1169	.	.	.	.	X	134;44;44	.	ENSP00000335311:E44X	E	-	1	0	EDNRB	77390580	0.017000	0.18338	0.170000	0.22879	0.541000	0.35023	1.191000	0.32138	1.041000	0.40125	0.591000	0.81541	GAG	.		0.627	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			A	78492579	C	A	78492579	4	1	4	1	0	0	0	0	0	1	0	0	4934	922	32	3	1347	3	EDNRB	13	78492579	Nonsense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	25251626	78492579	36677299	108	484											
ZIC5	85416	broad.mit.edu	37	13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-	rs71114653		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)ccgcca>cca	p.420_421PP>P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	420	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724																																					p.420_421del													.	ZIC5	38	0			c.1260_1262del						.																																			SO:0001651	inframe_deletion	85416	exon1			GGCGGTGGCGGCG	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1260_1262delGCC	13.37:g.100622677_100622679delGGC	ENSP00000267294:p.Pro424del	6	0		24	8	NM_033132	Q5VYB0	In_Frame_Del	DEL	ENST00000267294.4	37	CCDS9494.2																																																																																			-|1.000;|0.000		0.724	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		-	100622670	GGC	-	100622668	7	5	4	1	0	1	0	1	0	0	0	0	17730	1348	47	0	737	0	ZIC5	13	100622668	In_Frame_Del	DEL	GGC	TCGA-3X-AAVC-01A-21D-A417-09	22130089	100622668	14547210	109	485											
PRPF39	55015	hgsc.bcm.edu	37	14	45571897	45571897	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr14:45571897G>A	ENST00000355765.6	+	5	905	c.735G>A	c.(733-735)caG>caA	p.Q245Q		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	245					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Q124Q(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATCATTTTCAGAGGTAGGTGG	0.323																																					p.Q245Q		.											PRPF39,NS,carcinoma,0,1	PRPF39	0	1	Substitution - coding silent(1)	breast(1)	c.G735A						.						167	183	178					14																	45571897		2203	4300	6503	SO:0001819	synonymous_variant	55015	exon5			TTTTCAGAGGTAG	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.735G>A	14.37:g.45571897G>A		43	0		50	2	NM_017922	Q08AL1|Q08AL2|Q9NUU5	Silent	SNP	ENST00000355765.6	37	CCDS9682.2																																																																																			.		0.323	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			A	45571897	G	A	45571897	2	1	4	1	0	0	0	0	0	0	0	1	12611	933	33	3		3	PRPF39	14	45571897	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09		45571897	61777643	110	486											
TRIM9	114088	hgsc.bcm.edu	37	14	51492033	51492033	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr14:51492033C>A	ENST00000298355.3	-	2	1989	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	TRIM9_ENST00000360392.4_Nonsense_Mutation_p.E290*|TRIM9_ENST00000338969.5_Nonsense_Mutation_p.E290*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	290					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCCTTGGCTTCTTTGGCCCTG	0.532																																					p.E290X		.											.	.	.	0			c.G868T						.						208	180	189					14																	51492033		2203	4300	6503	SO:0001587	stop_gained	114088	exon2			TGGCTTCTTTGGC	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.868G>T	14.37:g.51492033C>A	ENSP00000298355:p.Glu290*	60	0		62	4	NM_052978	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Nonsense_Mutation	SNP	ENST00000298355.3	37	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	48	14.652988	0.99804	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	290	.	ENSP00000298355:E290X	E	-	1	0	TRIM9	50561783	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.436000	0.80404	2.941000	0.99782	0.655000	0.94253	GAA	.		0.532	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		A	51492033	C	A	51492033	4	1	4	1	0	0	0	0	0	1	0	0	16597	922	32	3	1350	3	TRIM9	14	51492033	Nonsense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	5920136	51492033	55857507	111	487											
C14orf101	54916	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	57046731	57046731	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr14:57046731C>T	ENST00000261556.6	+	1	221	c.99C>T	c.(97-99)ttC>ttT	p.F33F	TMEM260_ENST00000538838.1_Silent_p.F33F|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	33						integral component of membrane (GO:0016021)											TGGCGGTGTTCGCCGCCGTGG	0.726																																					p.F33F		.											.	.	.	0			c.C99T						.						4	3	4					14																	57046731		1914	3800	5714	SO:0001819	synonymous_variant	0	exon1			GGTGTTCGCCGCC	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.99C>T	14.37:g.57046731C>T		35	0		42	7	NM_017799	A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	37	CCDS9727.2																																																																																			.		0.726	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		T	57046731	C	T	57046731	2	4	4	1	0	0	0	0	0	0	0	1	1739	883	31	1		1	C14orf101	14	57046731	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	5554698	57046731	50302809	112	488											
KIAA1409	57578	hgsc.bcm.edu;bcgsc.ca	37	14	93994975	93994975	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr14:93994975C>T	ENST00000393151.2	+	9	1035	c.1035C>T	c.(1033-1035)tgC>tgT	p.C345C	UNC79_ENST00000553484.1_Silent_p.C345C|UNC79_ENST00000555664.1_Silent_p.C345C|UNC79_ENST00000256339.4_Silent_p.C168C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	345					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						GTGAAGAATGCAGCGAGAGGA	0.378																																					p.C168C		.											.	.	.	0			c.C504T						.						104	99	101					14																	93994975		2203	4300	6503	SO:0001819	synonymous_variant	57578	exon9			AGAATGCAGCGAG	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.1035C>T	14.37:g.93994975C>T		77	0		81	4	NM_020818	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																				.		0.378	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	93994975	C	T	93994975	2	4	4	1	0	0	0	0	0	0	0	1	8257	718	25	3		3	KIAA1409	14	93994975	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	36948244	93994975	13354565	113	489											
AHNAK2	113146	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	105411931	105411931	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr14:105411931T>C	ENST00000333244.5	-	7	9976	c.9857A>G	c.(9856-9858)gAt>gGt	p.D3286G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3286						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)			CCGTGCACCATCCAACTTGGC	0.602																																					p.D3286G													.	AHNAK2	719	0			c.A9857G						.						142	117	125					14																	105411931		1926	4109	6035	SO:0001583	missense	113146	exon7			GCACCATCCAACT	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.9857A>G	14.37:g.105411931T>C	ENSP00000353114:p.Asp3286Gly	69	0		62	29	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	11.52	1.661730	0.29515	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	1.79	1.79	0.24919	.	.	.	.	.	T	0.01454	0.0047	M	0.79343	2.45	0.09310	N	1	B	0.21309	0.054	B	0.20184	0.028	T	0.44651	-0.9314	9	0.36615	T	0.2	.	2.4425	0.04498	0.0:0.1871:0.2988:0.5142	.	3286	Q8IVF2	AHNK2_HUMAN	G	3286	ENSP00000353114:D3286G	ENSP00000353114:D3286G	D	-	2	0	AHNAK2	104482976	.	.	0.004000	0.12327	0.002000	0.02628	.	.	0.667000	0.31107	0.397000	0.26171	GAT	.		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105411931	T	C	105411931	3	2	4	1	0	0	0	0	1	0	0	0	415	1435	50	4	7534	4	AHNAK2	14	105411931	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	11416956	105411931	1937609	114	490											
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	54556494	54556494	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr15:54556494T>C	ENST00000260323.11	+	8	3577	c.3577T>C	c.(3577-3579)Ttt>Ctt	p.F1193L	UNC13C_ENST00000537900.1_Missense_Mutation_p.F1191L|UNC13C_ENST00000545554.1_Missense_Mutation_p.F1193L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1193					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)		CCAGGAAATGTTTCAGATTTC	0.398																																					p.F1193L		.											.	.	.	0			c.T3577C						.						49	47	47					15																	54556494		1809	4064	5873	SO:0001583	missense	440279	exon7			GAAATGTTTCAGA	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.3577T>C	15.37:g.54556494T>C	ENSP00000260323:p.Phe1193Leu	111	0		99	42	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	33	5.237662	0.95240	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81163	-1.45;-1.46;-1.45	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	M	0.84585	2.705	0.58432	D	0.999998	P;D	0.69078	0.938;0.997	P;D	0.70716	0.804;0.97	D	0.91595	0.5290	10	0.72032	D	0.01	.	14.8873	0.70579	0.0:0.0:0.0:1.0	.	1193;1193	F5H090;Q8NB66	.;UN13C_HUMAN	L	1193;1193;1191	ENSP00000260323:F1193L;ENSP00000438156:F1193L;ENSP00000442569:F1191L	ENSP00000260323:F1193L	F	+	1	0	UNC13C	52343786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.168000	0.68352	0.533000	0.62120	TTT	.		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54556494	T	C	54556494	3	2	4	1	0	0	0	0	1	0	0	0	17035	1725	60	4	3603	4	UNC13C	15	54556494	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09		54556494	47974898	115	491											
BNC1	646	hgsc.bcm.edu	37	15	83935682	83935682	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr15:83935682C>T	ENST00000345382.2	-	3	426	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R107Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	114					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)	p.R114Q(1)		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						ACTGAAGAGCCGGTCCAGTAG	0.502																																					p.R114Q		.											BNC1,NS,carcinoma,0,2	BNC1	0	1	Substitution - Missense(1)	kidney(1)	c.G341A						.						125	117	119					15																	83935682		2203	4300	6503	SO:0001583	missense	646	exon3			AAGAGCCGGTCCA	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.341G>A	15.37:g.83935682C>T	ENSP00000307041:p.Arg114Gln	54	0		50	2	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	36	5.872996	0.97049	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03635	3.86	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.00036	-1.2257	10	0.87932	D	0	-26.078	19.614	0.95622	0.0:1.0:0.0:0.0	.	107;114	F5GY04;Q01954	.;BNC1_HUMAN	Q	114;107	ENSP00000307041:R114Q	ENSP00000307041:R114Q	R	-	2	0	BNC1	81726686	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.573000	0.82421	2.873000	0.98535	0.561000	0.74099	CGG	.		0.502	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83935682	C	T	83935682	3	4	4	1	0	0	0	0	1	0	0	0	1476	652	23	1	2655	1	BNC1	15	83935682	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	29379188	83935682	18595710	116	492											
ADAMTSL3	57188	ucsc.edu;bcgsc.ca	37	15	84700090	84700090	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr15:84700090C>A	ENST00000286744.5	+	28	4884	c.4660C>A	c.(4660-4662)Cct>Act	p.P1554T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1554T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1554						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)			GTTCCAGTGTCCTGGACGTTG	0.498																																					p.P1554T													.	ADAMTSL3	290	0			c.C4660A						.						214	187	196					15																	84700090		2203	4299	6502	SO:0001583	missense	57188	exon28			CAGTGTCCTGGAC	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.4660C>A	15.37:g.84700090C>A	ENSP00000286744:p.Pro1554Thr	30	0		25	4	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	6.890	0.533775	0.13188	.	.	ENSG00000156218	ENST00000286744	T	0.64438	-0.1	5.15	4.19	0.49359	.	1.194670	0.06123	N	0.669216	T	0.44244	0.1284	N	0.17723	0.515	0.28558	N	0.911254	B;B	0.17852	0.004;0.024	B;B	0.15052	0.009;0.012	T	0.37619	-0.9698	10	0.09084	T	0.74	.	7.1672	0.25698	0.0:0.7363:0.1732:0.0905	.	1554;1554	P82987-2;P82987	.;ATL3_HUMAN	T	1554	ENSP00000286744:P1554T	ENSP00000286744:P1554T	P	+	1	0	ADAMTSL3	82491094	0.984000	0.35163	1.000000	0.80357	0.826000	0.46750	0.631000	0.24568	2.654000	0.90174	0.655000	0.94253	CCT	.		0.498	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		A	84700090	C	A	84700090	3	1	4	1	0	0	0	0	1	0	0	0	276	855	30	3	4766	3	ADAMTSL3	15	84700090	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	764408	84700090	17831302	117	493											
WDR93	56964	hgsc.bcm.edu	37	15	90245237	90245237	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr15:90245237G>A	ENST00000268130.7	+	2	361	c.260G>A	c.(259-261)aGc>aAc	p.S87N	RP11-300G22.2_ENST00000557964.1_RNA|WDR93_ENST00000560294.1_Missense_Mutation_p.S87N|WDR93_ENST00000558000.1_Missense_Mutation_p.S87N	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	87					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)			GCTGAGAGCAGCCAGATCCAG	0.483																																					p.S87N		.											.	.	.	0			c.G260A						.						59	61	61					15																	90245237		2200	4299	6499	SO:0001583	missense	56964	exon2			AGAGCAGCCAGAT		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.260G>A	15.37:g.90245237G>A	ENSP00000268130:p.Ser87Asn	59	0		64	4	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	7.648	0.682378	0.14907	.	.	ENSG00000140527	ENST00000268130	T	0.23950	1.88	5.59	-2.64	0.06114	.	0.869087	0.10030	N	0.724840	T	0.12135	0.0295	N	0.21583	0.68	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.29397	-1.0013	10	0.40728	T	0.16	-0.773	0.838	0.01144	0.371:0.2731:0.2019:0.154	.	87;87;87	Q6P2C0-2;B4E3E2;Q6P2C0	.;.;WDR93_HUMAN	N	87	ENSP00000268130:S87N	ENSP00000268130:S87N	S	+	2	0	WDR93	88046241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.742000	0.04850	-0.102000	0.12197	-0.157000	0.13467	AGC	.		0.483	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		A	90245237	G	A	90245237	3	1	4	1	0	0	0	0	1	0	0	0	17389	971	34	3	262	3	WDR93	15	90245237	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	5545147	90245237	12286155	118	494											
PCSK6	5046	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	101929744	101929744	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr15:101929744C>T	ENST00000348070.1	-	10	1231	c.1232G>A	c.(1231-1233)tGt>tAt	p.C411Y	PCSK6_ENST00000344273.2_Missense_Mutation_p.C411Y|PCSK6_ENST00000331826.7_Missense_Mutation_p.C246Y|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.C411Y|PCSK6_ENST00000398181.2_Missense_Mutation_p.C411Y	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	412	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCATCGGTACAGCGCTGACG	0.567																																					.		.											.	.	.	0			.						.						69	76	74					15																	101929744		2138	4250	6388	SO:0001583	missense	5046	p.C411Y			TCGGTACAGCGCT		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1232G>A	15.37:g.101929744C>T	ENSP00000305056:p.Cys411Tyr	46	0		52	4	.	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	C	29.3	4.996071	0.93167	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.74	5.74	0.90152	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.103904	0.64402	D	0.000001	D	0.89273	0.6668	M	0.68728	2.09	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	0.999;0.998;1.0;0.999;1.0;1.0;0.997;1.0;1.0	D	0.89670	0.3883	10	0.87932	D	0	-41.0897	18.9079	0.92471	0.0:1.0:0.0:0.0	.	412;317;411;412;411;411;412;412;411	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Y	411;411;316;411;411;246	ENSP00000305056:C411Y;ENSP00000351193:C411Y;ENSP00000344410:C411Y;ENSP00000381243:C411Y;ENSP00000332052:C246Y	ENSP00000332052:C246Y	C	-	2	0	PCSK6	99747267	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.688000	0.84153	2.702000	0.92279	0.655000	0.94253	TGT	.		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		T	101929744	C	T	101929744	3	4	4	1	0	0	0	0	1	0	0	0	11643	478	17	3	2209	3	PCSK6	15	101929744	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	11684507	101929744	601648	119	495											
C16orf45	89927	hgsc.bcm.edu	37	16	15675170	15675170	+	Missense_Mutation	SNP	C	C	T	rs371464387		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr16:15675170C>T	ENST00000300006.4	+	4	760	c.401C>T	c.(400-402)gCg>gTg	p.A134V	C16orf45_ENST00000452191.2_Missense_Mutation_p.A117V|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Missense_Mutation_p.A86V|C16orf45_ENST00000566490.1_Missense_Mutation_p.A134V	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	134										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GTGGACGATGCGGAGGTCGAG	0.527																																					p.A134V		.											C16orf45,NS,neuroblastoma,0,1	C16orf45	0	0			c.C401T						.						95	81	86					16																	15675170		2197	4300	6497	SO:0001583	missense	89927	exon4			ACGATGCGGAGGT	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.401C>T	16.37:g.15675170C>T	ENSP00000300006:p.Ala134Val	64	0		72	3	NM_033201	O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369012	0.42003	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.41065	1.01;1.01	5.2	5.2	0.72013	Domain of unknown function DUF3585 (1);	0.048402	0.85682	D	0.000000	T	0.41766	0.1173	L	0.36672	1.1	0.58432	D	0.999998	P;D	0.63880	0.951;0.993	P;P	0.47251	0.542;0.525	T	0.16630	-1.0396	10	0.30854	T	0.27	-6.863	18.3148	0.90217	0.0:1.0:0.0:0.0	.	78;134	B4DE25;Q96MC5	.;CP045_HUMAN	V	134;117	ENSP00000300006:A134V;ENSP00000408976:A117V	ENSP00000300006:A134V	A	+	2	0	C16orf45	15582671	1.000000	0.71417	0.154000	0.22540	0.216000	0.24613	5.395000	0.66291	2.430000	0.82344	0.563000	0.77884	GCG	.		0.527	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		T	15675170	C	T	15675170	3	4	4	1	0	0	0	0	1	0	0	0	1819	768	27	1	474	1	C16orf45	16	15675170	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		15675170	74679583	120	496											
SMG1	23049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	18895427	18895427	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr16:18895427C>A	ENST00000446231.2	-	9	1496	c.1084G>T	c.(1084-1086)Ggt>Tgt	p.G362C	SMG1_ENST00000389467.3_Missense_Mutation_p.G362C|SMG1_ENST00000565224.1_Missense_Mutation_p.G336C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	362	Interaction with SMG8 and SMG9.				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						AGAAACTGACCAAGAAGAGTA	0.383																																					p.G362C		.											.	.	.	0			c.G1084T						.						47	42	43					16																	18895427		1817	4074	5891	SO:0001583	missense	23049	exon9			ACTGACCAAGAAG	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.1084G>T	16.37:g.18895427C>A	ENSP00000402515:p.Gly362Cys	305	0		348	45	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145697	0.77888	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.18810	2.19;2.19	5.17	5.17	0.71159	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.45637	0.1352	L	0.56769	1.78	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.37407	-0.9707	10	0.66056	D	0.02	.	19.0192	0.92906	0.0:1.0:0.0:0.0	.	362	Q96Q15	SMG1_HUMAN	C	362	ENSP00000402515:G362C;ENSP00000374118:G362C	ENSP00000374118:G362C	G	-	1	0	SMG1	18802928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.577000	0.86979	0.555000	0.69702	GGT	.		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		A	18895427	C	A	18895427	3	1	4	1	0	0	0	0	1	0	0	0	14840	594	21	3	10121	3	SMG1	16	18895427	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	3220257	18895427	71459326	121	497											
ZKSCAN2	342357	hgsc.bcm.edu	37	16	25258433	25258433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr16:25258433C>A	ENST00000328086.7	-	5	1887	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	362					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)		TGAAGTGTTTCATAAAAGCGA	0.473																																					p.E362X		.											.	.	.	0			c.G1084T						.						112	107	109					16																	25258433		2197	4300	6497	SO:0001587	stop_gained	342357	exon5			GTGTTTCATAAAA	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.1084G>T	16.37:g.25258433C>A	ENSP00000331626:p.Glu362*	66	0		66	4	NM_001012981	A1L3B4|Q6ZN77	Nonsense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	45	11.421438	0.99559	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-24.2485	15.8146	0.78589	0.0:1.0:0.0:0.0	.	.	.	.	X	362	.	ENSP00000331626:E362X	E	-	1	0	ZKSCAN2	25165934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.957000	0.56730	2.882000	0.98803	0.655000	0.94253	GAA	.		0.473	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		A	25258433	C	A	25258433	4	1	4	1	0	0	0	0	0	1	0	0	17735	835	29	3	1831	3	ZKSCAN2	16	25258433	Nonsense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	6363006	25258433	65096320	122	498											
SRCAP	10847	bcgsc.ca	37	16	30722104	30722104	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr16:30722104G>A	ENST00000262518.4	+	9	1549	c.1164G>A	c.(1162-1164)caG>caA	p.Q388Q	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.Q388Q|SRCAP_ENST00000344771.4_Silent_p.Q388Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	388	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)			CTGTCACACAGCGCAACAAAC	0.468																																					p.Q388Q													.	SRCAP	298	0			c.G1164A						.						134	116	122					16																	30722104		2197	4300	6497	SO:0001819	synonymous_variant	10847	exon9			CACACAGCGCAAC	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.1164G>A	16.37:g.30722104G>A		33	0		30	4	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																			.		0.468	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30722104	G	A	30722104	2	1	4	1	0	0	0	0	0	0	0	1	15182	962	34	3		3	SRCAP	16	30722104	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	5463671	30722104	59632649	123	499											
CDH5	1003	hgsc.bcm.edu	37	16	66424368	66424368	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr16:66424368G>T	ENST00000341529.3	+	6	992	c.844G>T	c.(844-846)Gtt>Ttt	p.V282F	CDH5_ENST00000563425.2_Missense_Mutation_p.V282F	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	282	Cadherin 3. {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)	CTCTCTGTTTGTTGAGGACCC	0.552																																					p.V282F		.											CDH5,NS,lymphoid_neoplasm,0,1	CDH5	0	0			c.G844T						.						70	69	69					16																	66424368		2201	4300	6501	SO:0001583	missense	1003	exon6			CTGTTTGTTGAGG	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.844G>T	16.37:g.66424368G>T	ENSP00000344115:p.Val282Phe	36	0		47	2	NM_001795	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158136	0.94686	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.55413	0.52	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79969	0.4538	M	0.93328	3.405	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.84392	0.0555	9	0.87932	D	0	.	17.8559	0.88762	0.0:0.0:1.0:0.0	.	282	P33151	CADH5_HUMAN	F	282	ENSP00000344115:V282F	ENSP00000344115:V282F	V	+	1	0	CDH5	64981869	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	7.695000	0.84257	2.894000	0.99253	0.655000	0.94253	GTT	.		0.552	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66424368	G	T	66424368	3	4	4	1	0	0	0	0	1	0	0	0	3120	1377	48	3	862	3	CDH5	16	66424368	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	35702264	66424368	23930385	124	500											
NAE1	8883	hgsc.bcm.edu	37	16	66839907	66839907	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr16:66839907T>A	ENST00000290810.3	-	18	1450	c.1353A>T	c.(1351-1353)gaA>gaT	p.E451D	NAE1_ENST00000394074.2_Missense_Mutation_p.E362D|NAE1_ENST00000359087.4_Missense_Mutation_p.E454D|NAE1_ENST00000379463.2_Missense_Mutation_p.E445D			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	451					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CTATATCTTCTTCAACTTGAT	0.303																																					p.E451D		.											.	.	.	0			c.A1353T						.						77	72	74					16																	66839907		2200	4300	6500	SO:0001583	missense	8883	exon18			ATCTTCTTCAACT	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1353A>T	16.37:g.66839907T>A	ENSP00000290810:p.Glu451Asp	60	0		104	2	NM_003905	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.334093	0.41297	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.46614	1.455	0.80722	D	1	B;B;B	0.15719	0.0;0.007;0.014	B;B;B	0.23574	0.004;0.021;0.047	T	0.18023	-1.0350	10	0.21014	T	0.42	-23.2553	8.4916	0.33104	0.0:0.1439:0.0:0.8561	.	454;451;445	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	D	454;451;445;362	ENSP00000351990:E454D;ENSP00000290810:E451D;ENSP00000368776:E445D;ENSP00000377637:E362D	ENSP00000290810:E451D	E	-	3	2	NAE1	65397408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.773000	0.47686	2.212000	0.71576	0.523000	0.50628	GAA	.		0.303	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		A	66839907	T	A	66839907	3	1	4	1	0	0	0	0	1	0	0	0	10177	1606	56	5	263	5	NAE1	16	66839907	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	415539	66839907	23514846	125	501											
SPIRE2	84501	hgsc.bcm.edu	37	16	89920723	89920723	+	Silent	SNP	G	G	T	rs148030912		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr16:89920723G>T	ENST00000378247.3	+	4	718	c.675G>T	c.(673-675)ccG>ccT	p.P225P	SPIRE2_ENST00000393062.2_Silent_p.P225P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	225					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)		AGGACGAGCCGCATCTGGAGA	0.657																																					p.P225P		.											SPIRE2,caecum,carcinoma,0,1	SPIRE2	0	0			c.G675T						.						39	35	36					16																	89920723		2193	4286	6479	SO:0001819	synonymous_variant	84501	exon4			CGAGCCGCATCTG	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.675G>T	16.37:g.89920723G>T		61	0		74	3	NM_032451	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	CCDS32516.1																																																																																			.		0.657	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		T	89920723	G	T	89920723	2	4	4	1	0	0	0	0	0	0	0	1	15119	1074	38	2		2	SPIRE2	16	89920723	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	23080816	89920723	434030	126	502											
PAFAH1B1	5048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	2570445	2570445	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:2570445C>T	ENST00000397195.5	+	5	803	c.352C>T	c.(352-354)Cct>Tct	p.P118S	PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CATTTTCCATCCTGTGTTCAG	0.448																																					p.P118S		.											.	.	.	0			c.C352T						.						111	100	104					17																	2570445		2203	4300	6503	SO:0001583	missense	5048	exon5			TTCCATCCTGTGT	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.352C>T	17.37:g.2570445C>T	ENSP00000380378:p.Pro118Ser	57	0		38	8	NM_000430		Missense_Mutation	SNP	ENST00000397195.5	37	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995629	0.93167	.	.	ENSG00000007168	ENST00000397195	T	0.70399	-0.48	5.02	5.02	0.67125	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	0.82577	0.5067	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83972	0.0327	10	0.62326	D	0.03	.	17.6689	0.88211	0.0:1.0:0.0:0.0	.	118	P43034	LIS1_HUMAN	S	118	ENSP00000380378:P118S	ENSP00000380378:P118S	P	+	1	0	PAFAH1B1	2517195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.477000	0.83638	0.585000	0.79938	CCT	.		0.448	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		T	2570445	C	T	2570445	3	4	4	1	0	0	0	0	1	0	0	0	11423	855	30	3	366	3	PAFAH1B1	17	2570445	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		2570445	78624765	127	503											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> 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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	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.S241F	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,NS,carcinoma,0,147	TP53_ENST00000545858	0	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	c.C722T	GRCh37	CM920673	TP53	M	rs28934573	.						139	108	118					17																	7577559		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;	ATGCAGGAACTGT	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe	32	0		24	14	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	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	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	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	4	1	0	0	0	0	1	0	0	0	16429	1174	41	3	568	3	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	5007114	7577559	73617651	128	504											
ZNF287	57336	hgsc.bcm.edu	37	17	16455209	16455209	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:16455209C>T	ENST00000395824.1	-	6	2864	c.2247G>A	c.(2245-2247)caG>caA	p.Q749Q	ZNF287_ENST00000395825.3_Silent_p.Q749Q			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	742					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CACGTTGATGCTGAATAAGGT	0.378																																					p.Q749Q		.											.	.	.	0			c.G2247A						.						192	184	187					17																	16455209		2203	4300	6503	SO:0001819	synonymous_variant	57336	exon6			TTGATGCTGAATA	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.2247G>A	17.37:g.16455209C>T		90	0		95	4	NM_020653	Q6IAG1	Silent	SNP	ENST00000395824.1	37	CCDS11179.2																																																																																			.		0.378	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			T	16455209	C	T	16455209	2	4	4	1	0	0	0	0	0	0	0	1	17873	796	28	3		3	ZNF287	17	16455209	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	8877650	16455209	64740001	129	505											
NOS2	4843	hgsc.bcm.edu	37	17	26101406	26101406	+	Silent	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:26101406G>A	ENST00000313735.6	-	12	1586	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	451					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)	p.Y451*(1)		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)	CACGGGACCGGTATTCATTCT	0.552																																					p.Y451Y		.											NOS2,NS,carcinoma,0,1	NOS2	0	1	Substitution - Nonsense(1)	ovary(1)	c.C1353T						.						96	92	94					17																	26101406		2203	4300	6503	SO:0001819	synonymous_variant	4843	exon12			GGACCGGTATTCA	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.1353C>T	17.37:g.26101406G>A		29	0		42	2	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1																																																																																			.		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		A	26101406	G	A	26101406	2	1	4	1	0	0	0	0	0	0	0	1	10582	1256	44	3		3	NOS2	17	26101406	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	9646197	26101406	55093804	130	506											
SUPT6H	6830	hgsc.bcm.edu	37	17	27001323	27001323	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:27001323C>T	ENST00000314616.6	+	3	415	c.132C>T	c.(130-132)aaC>aaT	p.N44N	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Silent_p.N44N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	44	Asp/Glu-rich.|Interaction with IWS1. {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)					AGGAGGAGAACCTAGATGATC	0.458																																					p.N44N		.											SUPT6H,NS,carcinoma,0,1	SUPT6H	0	0			c.C132T						.						132	102	112					17																	27001323		2203	4300	6503	SO:0001819	synonymous_variant	6830	exon3			GGAGAACCTAGAT	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.132C>T	17.37:g.27001323C>T		59	0		40	2	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																			.		0.458	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		T	27001323	C	T	27001323	2	4	4	1	0	0	0	0	0	0	0	1	15447	506	18	3		3	SUPT6H	17	27001323	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	899917	27001323	54193887	131	507											
DDX52	11056	broad.mit.edu	37	17	35974393	35974393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:35974393delT	ENST00000349699.2	-	15	1791	c.1748delA	c.(1747-1749)aagfs	p.K583fs	RP11-697E22.1_ENST00000591689.1_RNA|DDX52_ENST00000394367.3_Frame_Shift_Del_p.K475fs	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	583	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)				ACCAGTGACCTTTTTCCTGTA	0.308																																					p.K583fs													.	DDX52	40	0			c.1748delA						.						80	74	76					17																	35974393		2201	4299	6500	SO:0001589	frameshift_variant	11056	exon15			GTGACCTTTTTCC	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.1748delA	17.37:g.35974393delT	ENSP00000268854:p.Lys583fs	115	0		2999	17	NM_007010	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Frame_Shift_Del	DEL	ENST00000349699.2	37	CCDS11323.1																																																																																			.		0.308	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		-	35974393	T	-	35974393	7	5	4	1	0	1	0	1	0	0	0	0	4379	1609	56	0	55	0	DDX52	17	35974393	Frame_Shift_Del	DEL	T	TCGA-3X-AAVC-01A-21D-A417-09	8973070	35974393	45220817	132	508											
HDAC5	10014	broad.mit.edu	37	17	42165022	42165022	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:42165022G>T	ENST00000393622.2	-	13	1973	c.1642C>A	c.(1642-1644)Cac>Aac	p.H548N	HDAC5_ENST00000586802.1_Missense_Mutation_p.H548N|HDAC5_ENST00000225983.6_Missense_Mutation_p.H549N|HDAC5_ENST00000336057.5_Missense_Mutation_p.H548N	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	548					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|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 gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|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)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCCTCAGGGTGGGTGGTGGGC	0.632																																					p.H549N													.	HDAC5	67	0			c.C1645A						.						95	101	99					17																	42165022		2203	4300	6503	SO:0001583	missense	10014	exon13			CAGGGTGGGTGGT	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1642C>A	17.37:g.42165022G>T	ENSP00000377244:p.His548Asn	34	0		30	3	NM_001015053	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422494	0.83559	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.53206	0.76;0.76;0.63	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	M	0.80616	2.505	0.58432	D	0.999999	D;D;D;D	0.61080	0.989;0.981;0.989;0.981	D;D;D;D	0.70487	0.969;0.932;0.969;0.932	T	0.67492	-0.5657	10	0.27082	T	0.32	-15.6939	15.4975	0.75666	0.0:0.0:1.0:0.0	.	548;548;549;548	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	N	549;548;548	ENSP00000225983:H549N;ENSP00000377244:H548N;ENSP00000337290:H548N	ENSP00000225983:H549N	H	-	1	0	HDAC5	39520548	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.453000	0.90349	2.187000	0.69744	0.491000	0.48974	CAC	.		0.632	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		T	42165022	G	T	42165022	3	4	4	1	0	0	0	0	1	0	0	0	7037	1348	47	3	1786	3	HDAC5	17	42165022	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	6190629	42165022	39030188	133	509											
NPEPPS	9520	broad.mit.edu	37	17	45663749	45663749	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:45663749G>A	ENST00000322157.4	+	8	1202	c.965G>A	c.(964-966)gGc>gAc	p.G322D	NPEPPS_ENST00000530173.1_Missense_Mutation_p.G318D|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.G242D	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	322					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)	p.G322D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGAACTGGGGCCTTGTTACT	0.313																																					p.G322D													NPEPPS,NS,carcinoma,0,2	NPEPPS	59	2	Substitution - Missense(2)	endometrium(2)	c.G965A						.						65	51	55					17																	45663749		1829	4069	5898	SO:0001583	missense	9520	exon8			ACTGGGGCCTTGT	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.965G>A	17.37:g.45663749G>A	ENSP00000320324:p.Gly322Asp	126	0		149	4	NM_006310	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961429	0.74016	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.71	5.71	0.89125	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	H	0.99535	4.615	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.74878	-0.3514	10	0.87932	D	0	.	19.8494	0.96733	0.0:0.0:1.0:0.0	rs1809279;rs1809279	318;322	E9PLK3;P55786	.;PSA_HUMAN	D	318;322;309;242;5;5	ENSP00000433287:G318D;ENSP00000320324:G322D;ENSP00000442461:G242D;ENSP00000435639:G5D;ENSP00000435966:G5D	ENSP00000320324:G322D	G	+	2	0	NPEPPS	43018748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.016000	0.88706	2.705000	0.92388	0.585000	0.79938	GGC	G|0.500;A|0.500		0.313	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		A	45663749	G	A	45663749	3	1	4	1	0	0	0	0	1	0	0	0	10614	1203	42	3	995	3	NPEPPS	17	45663749	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	3498727	45663749	35531461	134	510											
PPM1E	22843	hgsc.bcm.edu	37	17	57046944	57046944	+	Silent	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:57046944G>T	ENST00000308249.2	+	4	957	c.828G>T	c.(826-828)ggG>ggT	p.G276G	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0					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)			ATGGCCATGGGGGAGTAGATG	0.493																																					p.G276G		.											PPM1E,right_lower_lobe,carcinoma,0,1	PPM1E	0	0			c.G828T						.						190	154	166					17																	57046944		2203	4300	6503	SO:0001819	synonymous_variant	22843	exon4			CCATGGGGGAGTA	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.828G>T	17.37:g.57046944G>T		58	0		69	3	NM_014906	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																			.		0.493	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		T	57046944	G	T	57046944	2	4	4	1	0	0	0	0	0	0	0	1	12380	1219	43	3		3	PPM1E	17	57046944	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	11383195	57046944	24148266	135	511											
SMARCD2	6603	hgsc.bcm.edu	37	17	61914839	61914839	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:61914839C>T	ENST00000448276.2	-	2	628	c.363G>A	c.(361-363)gtG>gtA	p.V121V	SMARCD2_ENST00000323347.10_Silent_p.V73V|RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000225742.9_Silent_p.V46V	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	121	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GCGCCTGGGGCACAAGCAGGC	0.627																																					p.V121V		.											.	.	.	0			c.G363A						.						58	66	63					17																	61914839		1964	4157	6121	SO:0001819	synonymous_variant	6603	exon2			CTGGGGCACAAGC	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.363G>A	17.37:g.61914839C>T		82	0		72	4	NM_001098426	A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Silent	SNP	ENST00000448276.2	37	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	10.02	1.236689	0.22711	.	.	ENSG00000108604	ENST00000225742	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43442	-0.9391	5	0.18276	T	0.48	-0.5858	11.9997	0.53224	0.0:0.8261:0.1739:0.0	.	.	.	.	T	65	.	ENSP00000225742:A65T	A	-	1	0	SMARCD2	59268571	0.975000	0.34042	1.000000	0.80357	0.968000	0.65278	0.154000	0.16343	2.749000	0.94314	0.491000	0.48974	GCC	.		0.627	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		T	61914839	C	T	61914839	2	4	4	1	0	0	0	0	0	0	0	1	14823	697	25	3		3	SMARCD2	17	61914839	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	4867895	61914839	19280371	136	512											
PRKCA	5578	ucsc.edu;bcgsc.ca	37	17	64685166	64685166	+	Splice_Site	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:64685166G>A	ENST00000413366.3	+	8	944		c.e8+1			NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha						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)			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)	GAAATTCGAGGTGAGGATAAC	0.443																																					.													.	PRKCA	82	0			c.918+1G>A						.						78	68	71					17																	64685166		2203	4300	6503	SO:0001630	splice_region_variant	5578	exon8			TTCGAGGTGAGGA		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.918+1G>A	17.37:g.64685166G>A		47	0		49	5	NM_002737	B5BU22|Q15137|Q32M72|Q96RE4	Splice_Site	SNP	ENST00000413366.3	37	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899524	0.91962	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8283	0.92127	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCA	62115628	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.388000	0.97237	2.443000	0.82685	0.561000	0.74099	.	.		0.443	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1		Intron	A	64685166	G	A	64685166	5	1	4	1	0	0	0	0	0	0	1	0	12549	1275	44	3	949	3	PRKCA	17	64685166	Splice_Site	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	2770327	64685166	16510044	137	513											
CACNG4	27092	bcgsc.ca	37	17	65026740	65026740	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:65026740G>A	ENST00000262138.3	+	4	606	c.604G>A	c.(604-606)Gct>Act	p.A202T	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	202					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)			GGGCGTCCTGGCTGTAAACAT	0.453																																					p.A202T													.	CACNG4	44	0			c.G604A						.						86	83	84					17																	65026740		2203	4300	6503	SO:0001583	missense	27092	exon4			GTCCTGGCTGTAA	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.604G>A	17.37:g.65026740G>A	ENSP00000262138:p.Ala202Thr	72	0		65	4	NM_014405	B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364947	0.82463	.	.	ENSG00000075461	ENST00000262138	D	0.89415	-2.51	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.91842	0.5484	10	0.34782	T	0.22	-1.7597	16.3423	0.83085	0.0:0.0:1.0:0.0	.	202	Q9UBN1	CCG4_HUMAN	T	202	ENSP00000262138:A202T	ENSP00000262138:A202T	A	+	1	0	CACNG4	62457202	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.314000	0.96306	2.285000	0.76669	0.556000	0.70494	GCT	.		0.453	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		A	65026740	G	A	65026740	3	1	4	1	0	0	0	0	1	0	0	0	2566	1203	42	3	618	3	CACNG4	17	65026740	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	341574	65026740	16168470	138	514											
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	76440749	76440749	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:76440749G>A	ENST00000585328.1	-	71	11574	c.11450C>T	c.(11449-11451)aCg>aTg	p.T3817M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T3808M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3808					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)			CTGCAGGGCCGTCTTGTTCTT	0.632																																					p.T3822M		.											.	.	.	0			c.C11465T						.						70	45	53					17																	76440749		2202	4300	6502	SO:0001583	missense	8632	exon71			AGGGCCGTCTTGT	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.11450C>T	17.37:g.76440749G>A	ENSP00000465516:p.Thr3817Met	14	0		19	4	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	G	18.43	3.622039	0.66787	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08984	3.03	4.99	4.02	0.46733	.	0.309555	0.28047	N	0.016815	T	0.34803	0.0910	M	0.92970	3.365	0.36662	D	0.878012	D	0.76494	0.999	D	0.65140	0.932	T	0.57510	-0.7799	10	0.87932	D	0	.	13.4806	0.61334	0.0762:0.0:0.9238:0.0	.	3817	E7EUM8	.	M	3817;3808	ENSP00000374490:T3808M	ENSP00000300671:T3817M	T	-	2	0	DNAH17	73952344	0.814000	0.29104	0.781000	0.31783	0.994000	0.84299	2.506000	0.45433	1.092000	0.41356	0.561000	0.74099	ACG	.		0.632	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76440749	G	A	76440749	3	1	4	1	0	0	0	0	1	0	0	0	4615	1145	40	1	1967	1	DNAH17	17	76440749	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	11414009	76440749	4754461	139	515											
NPLOC4	55666	hgsc.bcm.edu;bcgsc.ca	37	17	79526288	79526288	+	Silent	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr17:79526288G>T	ENST00000331134.6	-	17	2039	c.1824C>A	c.(1822-1824)acC>acA	p.T608T	NPLOC4_ENST00000572760.1_3'UTR|NPLOC4_ENST00000573876.1_3'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	608					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)			AGGCGCCCTAGGTCCTGGGGA	0.642																																					p.T608T		.											.	.	.	0			c.C1824A						.						17	22	20					17																	79526288		2043	4186	6229	SO:0001819	synonymous_variant	55666	exon17			GCCCTAGGTCCTG	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.1824C>A	17.37:g.79526288G>T		73	0		56	4	NM_017921	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	CCDS45812.1																																																																																			.		0.642	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			T	79526288	G	T	79526288	2	4	4	1	0	0	0	0	0	0	0	1	10625	987	35	3		3	NPLOC4	17	79526288	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	3085539	79526288	1668922	140	516											
FHOD3	80206	hgsc.bcm.edu	37	18	34335227	34335227	+	Missense_Mutation	SNP	G	G	A	rs571460399		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr18:34335227G>A	ENST00000359247.4	+	21	3802	c.3802G>A	c.(3802-3804)Gcc>Acc	p.A1268T	FHOD3_ENST00000257209.4_Missense_Mutation_p.A1285T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1460T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1247T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A264T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A481T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1268	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)				ACAGAAACGGGCCAACCACAG	0.418													G|||	1	0.000199681	8e-04	0	5008	,	,		11801	0		0	False		,,,				2504	0				p.A1285T		.											FHOD3,right_upper_lobe,carcinoma,0,1	FHOD3	0	0			c.G3853A						.						97	74	82					18																	34335227		2203	4300	6503	SO:0001583	missense	80206	exon22			AAACGGGCCAACC	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.3802G>A	18.37:g.34335227G>A	ENSP00000352186:p.Ala1268Thr	61	0		47	2	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	35	5.596244	0.96602	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.64618	-0.11;-0.11;-0.11	6.17	6.17	0.99709	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.989	D;D;D;D	0.87578	0.954;0.998;0.996;0.92	T	0.82034	-0.0657	10	0.72032	D	0.01	.	19.4575	0.94900	0.0:0.0:1.0:0.0	.	489;1247;1268;1285	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	T	1285;1268;1247	ENSP00000257209:A1285T;ENSP00000352186:A1268T;ENSP00000411430:A1247T	ENSP00000257209:A1285T	A	+	1	0	FHOD3	32589225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCC	.		0.418	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		A	34335227	G	A	34335227	3	1	4	1	0	0	0	0	1	0	0	0	5905	1203	42	3	3939	3	FHOD3	18	34335227	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09		34335227	43742021	141	517											
ONECUT2	9480	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	55103945	55103947	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr18:55103945_55103947delATC	ENST00000491143.2	+	1	1029_1031	c.997_999delATC	c.(997-999)atcdel	p.I333del	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	333					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)		GCTGGAAGAAATCAACACCAAAG	0.655																																					p.332_333del		.											.	.	.	0			c.996_998del						.																																			SO:0001651	inframe_deletion	9480	exon1			GAAGAAATCAACA	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.997_999delATC	18.37:g.55103945_55103947delATC	ENSP00000419185:p.Ile333del	38	0		28	15	NM_004852		In_Frame_Del	DEL	ENST00000491143.2	37	CCDS42440.1																																																																																			.		0.655	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			-	55103947	ATC	-	55103945	7	5	4	1	0	1	0	1	0	0	0	0	10908	101	4	0	999	0	ONECUT2	18	55103945	In_Frame_Del	DEL	ATC	TCGA-3X-AAVC-01A-21D-A417-09	20768718	55103945	22973303	142	518											
ANKRD24	170961	bcgsc.ca	37	19	4217178	4217178	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:4217178C>T	ENST00000600132.1	+	18	2297	c.2021C>T	c.(2020-2022)gCc>gTc	p.A674V	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764V|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	674										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)		AACATGGAGGCCACGGGCTCT	0.612																																					p.A674V													.	ANKRD24	180	0			c.C2021T						.						23	30	28					19																	4217178		2143	4249	6392	SO:0001583	missense	170961	exon18			TGGAGGCCACGGG	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.2021C>T	19.37:g.4217178C>T	ENSP00000471252:p.Ala674Val	18	0		10	3	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866201	0.51588	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.38887	1.14;1.11	2.05	2.05	0.26809	.	.	.	.	.	T	0.33147	0.0853	N	0.19112	0.55	0.24253	N	0.995315	D;D	0.57899	0.968;0.981	B;P	0.48795	0.385;0.59	T	0.12528	-1.0544	9	0.29301	T	0.29	.	10.93	0.47211	0.0:1.0:0.0:0.0	.	674;764	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	V	674;764	ENSP00000321731:A674V;ENSP00000262970:A764V	ENSP00000262970:A764V	A	+	2	0	ANKRD24	4168178	0.032000	0.19561	0.034000	0.17996	0.009000	0.06853	1.932000	0.40143	1.142000	0.42291	0.407000	0.27541	GCC	.		0.612	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		T	4217178	C	T	4217178	3	4	4	1	0	0	0	0	1	0	0	0	653	739	26	3	2087	3	ANKRD24	19	4217178	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		4217178	54911805	143	519											
SH3GL1	6455	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	4362634	4362634	+	Silent	SNP	G	G	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:4362634G>C	ENST00000269886.3	-	8	1006	c.828C>G	c.(826-828)ccC>ccG	p.P276P	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Silent_p.P228P|SH3GL1_ENST00000598564.1_Silent_p.P212P	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	276					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTGTGGTGCAGGGGAAGCCCC	0.652			T	MLL	AL																																p.P276P	NSCLC(94;1152 2133 30346 33362)	.		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	.	.	.	0			c.C828G						.						42	43	43					19																	4362634		2203	4300	6503	SO:0001819	synonymous_variant	6455	exon8			GGTGCAGGGGAAG		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.828C>G	19.37:g.4362634G>C		42	0		42	24	NM_003025	B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	CCDS32874.1																																																																																			.		0.652	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		C	4362634	G	C	4362634	2	2	4	1	0	0	0	0	0	0	0	1	14295	987	35	5		5	SH3GL1	19	4362634	Silent	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	145456	4362634	54766349	144	520											
TUBB4	10382	hgsc.bcm.edu	37	19	6495789	6495789	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:6495789G>A	ENST00000264071.2	-	4	1092	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R241C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	241					'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)										CCCGGGAAGCGCAGGCAGGTG	0.647																																					p.R241C		.											TUBB4,NS,carcinoma,0,1	TUBB4	0	0			c.C721T						.						66	61	62					19																	6495789		2203	4300	6503	SO:0001583	missense	10382	exon4			GGAAGCGCAGGCA	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.721C>T	19.37:g.6495789G>A	ENSP00000264071:p.Arg241Cys	76	0		46	2	NM_006087	B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065864	0.55539	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.74632	-0.86;-0.86	3.89	3.89	0.44902	.	0.000000	0.64402	D	0.000005	D	0.84338	0.5450	H	0.97131	3.945	0.80722	D	1	P	0.41498	0.752	B	0.42593	0.392	D	0.89765	0.3950	10	0.87932	D	0	.	14.7919	0.69848	0.0:0.0:1.0:0.0	.	241	P04350	TBB4A_HUMAN	C	241;241;159	ENSP00000264071:R241C;ENSP00000443590:R241C	ENSP00000264071:R241C	R	-	1	0	TUBB4	6446789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.595000	0.98260	1.745000	0.51790	0.478000	0.44815	CGC	.		0.647	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495789	G	A	6495789	3	1	4	1	0	0	0	0	1	0	0	0	16807	1087	38	1	617	1	TUBB4	19	6495789	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	2133155	6495789	52633194	145	521											
ICAM1	3383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	10385609	10385609	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:10385609A>G	ENST00000264832.3	+	2	561	c.236A>G	c.(235-237)tAt>tGt	p.Y79C	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	79	Ig-like C2-type 1.				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)	CGGAAGGTGTATGAACTGAGC	0.512																																					p.Y79C		.											.	.	.	0			c.A236G						.						140	130	133					19																	10385609		2203	4300	6503	SO:0001583	missense	3383	exon2			AGGTGTATGAACT		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.236A>G	19.37:g.10385609A>G	ENSP00000264832:p.Tyr79Cys	29	0		33	8	NM_000201	B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999676	0.35320	.	.	ENSG00000090339	ENST00000264832	T	0.20069	2.1	4.46	-0.601	0.11638	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.463445	0.18074	N	0.152516	T	0.35451	0.0932	L	0.54323	1.7	0.09310	N	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.14337	-1.0476	10	0.62326	D	0.03	-5.3233	9.7686	0.40576	0.687:0.0:0.0:0.313	.	79	P05362	ICAM1_HUMAN	C	79	ENSP00000264832:Y79C	ENSP00000264832:Y79C	Y	+	2	0	ICAM1	10246609	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.351000	0.20096	-0.335000	0.08451	-1.405000	0.01134	TAT	.		0.512	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			G	10385609	A	G	10385609	3	3	4	1	0	0	0	0	1	0	0	0	7506	449	16	4	242	4	ICAM1	19	10385609	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	3889820	10385609	48743374	146	522											
GCDH	2639	ucsc.edu;bcgsc.ca	37	19	13007078	13007078	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:13007078G>T	ENST00000222214.5	+	8	906	c.695G>T	c.(694-696)tGc>tTc	p.C232F	GCDH_ENST00000457854.1_Missense_Mutation_p.C232F|GCDH_ENST00000422947.2_Missense_Mutation_p.C188F|GCDH_ENST00000591470.1_Missense_Mutation_p.C232F			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	232					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAAGATGGCTGCATTCGGGGC	0.622																																					p.C232F	GBM(123;875 1636 7726 16444 26754)												.	GCDH	76	0			c.G695T						.						92	84	87					19																	13007078		2203	4300	6503	SO:0001583	missense	2639	exon8			ATGGCTGCATTCG	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.695G>T	19.37:g.13007078G>T	ENSP00000222214:p.Cys232Phe	50	0		36	4	NM_013976	A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873173	0.33069	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.98849	-5.18;-5.18;-5.18	5.35	1.46	0.22682	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.511935	0.21750	N	0.069688	D	0.92977	0.7765	N	0.14661	0.345	0.20307	N	0.999918	B;B;B;B;B	0.27853	0.191;0.106;0.009;0.012;0.027	B;B;B;B;B	0.10450	0.005;0.005;0.005;0.002;0.004	D	0.87634	0.2518	10	0.56958	D	0.05	.	1.1956	0.01874	0.1733:0.2046:0.4128:0.2093	.	188;68;199;232;232	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	F	232;232;199;188	ENSP00000394872:C232F;ENSP00000222214:C232F;ENSP00000394821:C188F	ENSP00000222214:C232F	C	+	2	0	GCDH	12868078	0.007000	0.16637	0.076000	0.20297	0.988000	0.76386	1.248000	0.32827	0.707000	0.31934	0.655000	0.94253	TGC	.		0.622	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			T	13007078	G	T	13007078	3	4	4	1	0	0	0	0	1	0	0	0	6312	1319	46	3	721	3	GCDH	19	13007078	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	2621469	13007078	46121905	147	523											
KIRREL2	84063	bcgsc.ca	37	19	36351555	36351555	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:36351555C>T	ENST00000360202.5	+	7	1112	c.914C>T	c.(913-915)gCg>gTg	p.A305V	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A305V|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A305V|KIRREL2_ENST00000347900.6_Missense_Mutation_p.A255V	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	305	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)			CGCAGTACTGCGCTGGATGTG	0.682																																					p.A305V													.	KIRREL2	170	0			c.C914T						.						59	66	64					19																	36351555		2203	4300	6503	SO:0001583	missense	84063	exon7			GTACTGCGCTGGA	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.914C>T	19.37:g.36351555C>T	ENSP00000353331:p.Ala305Val	32	0		15	3	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	c	11.57	1.678249	0.29783	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.14640	2.49;2.49;2.49	3.99	2.95	0.34219	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41605	D	0.000857	T	0.18257	0.0438	L	0.36672	1.1	0.32016	N	0.601369	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.989;0.982;0.996;0.994;0.994	T	0.05022	-1.0911	10	0.02654	T	1	-14.4209	7.6299	0.28232	0.0:0.882:0.0:0.118	.	305;285;305;255;305	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	V	305;255;305;285	ENSP00000262625:A305V;ENSP00000345067:A255V;ENSP00000353331:A305V	ENSP00000262625:A305V	A	+	2	0	KIRREL2	41043395	1.000000	0.71417	0.978000	0.43139	0.759000	0.43091	4.047000	0.57383	1.049000	0.40321	0.444000	0.29173	GCG	.		0.682	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		T	36351555	C	T	36351555	3	4	4	1	0	0	0	0	1	0	0	0	8352	768	27	1	940	1	KIRREL2	19	36351555	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	23344477	36351555	22777428	148	524											
IL28B	282617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	39734285	39734285	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:39734285T>C	ENST00000413851.2	-	5	616	c.578A>G	c.(577-579)gAc>gGc	p.D193G		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	193					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)											GACACACAGGTCCCCGCTGGC	0.517																																					p.D193G		.											.	.	.	0			c.A578G						.						45	44	44					19																	39734285		2203	4300	6503	SO:0001583	missense	282617	exon5			CACAGGTCCCCGC	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.578A>G	19.37:g.39734285T>C	ENSP00000409000:p.Asp193Gly	105	0		62	30	NM_172139	A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.190275	0.38707	.	.	ENSG00000197110	ENST00000413851	T	0.35236	1.32	3.53	-0.329	0.12686	.	0.779715	0.11610	N	0.546879	T	0.45418	0.1341	M	0.83483	2.645	0.09310	N	1	P	0.48911	0.917	P	0.49708	0.62	T	0.37798	-0.9690	10	0.72032	D	0.01	-2.9492	4.7276	0.12948	0.0:0.1229:0.4307:0.4464	.	193	Q8IZI9	IL28B_HUMAN	G	193	ENSP00000409000:D193G	ENSP00000409000:D193G	D	-	2	0	IL28B	44426125	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	0.538000	0.23160	-0.237000	0.09739	0.172000	0.16884	GAC	.		0.517	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		C	39734285	T	C	39734285	3	2	4	1	0	0	0	0	1	0	0	0	7710	1667	58	4	15	4	IL28B	19	39734285	Missense_Mutation	SNP	T	TCGA-3X-AAVC-01A-21D-A417-09	3382730	39734285	19394698	149	525											
ZNF677	342926	hgsc.bcm.edu	37	19	53740544	53740544	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:53740544C>A	ENST00000598513.1	-	5	1586	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	ZNF677_ENST00000333952.4_Missense_Mutation_p.R479I	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	479					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)|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)		AGTATGAGTTCTCTGATGACC	0.373																																					p.R479I		.											ZNF677,colon,carcinoma,0,1	ZNF677	0	0			c.G1436T						.						67	66	67					19																	53740544		2203	4300	6503	SO:0001583	missense	342926	exon5			TGAGTTCTCTGAT	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.1436G>T	19.37:g.53740544C>A	ENSP00000469391:p.Arg479Ile	50	0		46	2	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	9.922	1.212345	0.22289	.	.	ENSG00000197928	ENST00000333952	T	0.24908	1.83	2.21	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002228	T	0.21801	0.0525	L	0.53671	1.685	0.34243	D	0.677887	B	0.26363	0.147	B	0.24394	0.053	T	0.21280	-1.0250	10	0.54805	T	0.06	.	8.6545	0.34055	0.0:0.7612:0.2388:0.0	.	479	Q86XU0	ZN677_HUMAN	I	479	ENSP00000334394:R479I	ENSP00000334394:R479I	R	-	2	0	ZNF677	58432356	0.000000	0.05858	0.573000	0.28510	0.858000	0.48976	-0.297000	0.08276	0.472000	0.27344	0.655000	0.94253	AGA	.		0.373	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		A	53740544	C	A	53740544	3	1	4	1	0	0	0	0	1	0	0	0	18132	913	32	3	322	3	ZNF677	19	53740544	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	14006259	53740544	5388439	150	526											
ZNF761	388561	hgsc.bcm.edu	37	19	53958982	53958982	+	RNA	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:53958982G>T	ENST00000454407.1	+	0	1674							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAACCTTACA	0.373																																					p.E407D		.											ZNF761,colon,carcinoma,0,1	ZNF761	0	0			c.G1221T						.						118	123	121					19																	53958982		2203	4298	6501			388561	exon7			TGGAGAGAAACCT	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958982G>T		83	0		66	3	NM_001008401	Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																				.		0.373	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		T	53958982	G	T	53958982	1	4	4	0	1	0	0	0	0	0	0	0	18184	933	33	3		3	ZNF761	19	53958982	RNA	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	218438	53958982	5170001	151	527											
CNOT3	4849	hgsc.bcm.edu	37	19	54649452	54649452	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:54649452G>A	ENST00000406403.1	+	7	2205	c.602G>A	c.(601-603)cGc>cAc	p.R201H	CNOT3_ENST00000358389.3_Missense_Mutation_p.R20H|CNOT3_ENST00000221232.5_Missense_Mutation_p.R201H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	201					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)					GACGCCATCCGCAAGATCAAG	0.552																																					p.R201H		.											CNOT3_ENST00000358389,NS,malignant_melanoma,0,2	CNOT3_ENST00000358389	0	0			c.G602A						.						177	116	137					19																	54649452		2203	4300	6503	SO:0001583	missense	4849	exon8			CCATCCGCAAGAT	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.602G>A	19.37:g.54649452G>A	ENSP00000383954:p.Arg201His	27	0		19	2	NM_014516	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.477841|4.477841	0.84640|0.84640	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000358389;ENST00000406403	.|T;T	.|0.43294	.|0.95;0.95	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Not CCR4-Not complex component, N-terminal (1);	.|0.369213	.|0.28778	.|N	.|0.014165	T|T	0.38878|0.38878	0.1057|0.1057	L|L	0.43923|0.43923	1.385|1.385	0.45676|0.45676	D|D	0.998591|0.998591	.|B;B;B	.|0.30709	.|0.034;0.027;0.291	.|B;B;B	.|0.29077	.|0.013;0.008;0.098	T|T	0.38222|0.38222	-0.9671|-0.9671	5|10	.|0.62326	.|D	.|0.03	-27.0596|-27.0596	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|201;201;125	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	T|H	123|201;20;201	.|ENSP00000221232:R201H;ENSP00000383954:R201H	.|ENSP00000221232:R201H	A|R	+|+	1|2	0|0	CNOT3|CNOT3	59341264|59341264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.707000|3.707000	0.54838|0.54838	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GCA|CGC	.		0.552	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		A	54649452	G	A	54649452	3	1	4	1	0	0	0	0	1	0	0	0	3627	1087	38	1	628	1	CNOT3	19	54649452	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	690470	54649452	4479531	152	528											
ZNF628	89887	hgsc.bcm.edu	37	19	55994920	55994920	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:55994920C>T	ENST00000598519.1	+	3	2913	c.2360C>T	c.(2359-2361)gCg>gTg	p.A787V	NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A783V|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	787	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)		GTGCAGGGAGCGGCCAGCGCT	0.726																																					p.A787V		.											ZNF628_ENST00000391718,colon,carcinoma,0,2	ZNF628_ENST00000391718	0	0			c.C2360T						.						12	17	15					19																	55994920		2134	4213	6347	SO:0001583	missense	89887	exon3			AGGGAGCGGCCAG	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.2360C>T	19.37:g.55994920C>T	ENSP00000469591:p.Ala787Val	19	0		25	2	NM_033113	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	10.95	1.496442	0.26861	.	.	ENSG00000197483	ENST00000391718	T	0.08634	3.07	3.71	2.65	0.31530	.	0.835611	0.09919	U	0.738733	T	0.04182	0.0116	N	0.08118	0	0.09310	N	0.999998	P	0.35908	0.527	B	0.23419	0.046	T	0.38329	-0.9666	10	0.59425	D	0.04	.	10.0987	0.42491	0.0:0.4265:0.5735:0.0	.	783	Q5EBL2	ZN628_HUMAN	V	783	ENSP00000375598:A783V	ENSP00000375598:A783V	A	+	2	0	ZNF628	60686732	0.025000	0.19082	0.140000	0.22221	0.538000	0.34931	1.294000	0.33365	0.889000	0.36185	-0.502000	0.04539	GCG	.		0.726	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		T	55994920	C	T	55994920	3	4	4	1	0	0	0	0	1	0	0	0	18100	768	27	1	2350	1	ZNF628	19	55994920	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	1345468	55994920	3134063	153	529											
USP29	57663	broad.mit.edu	37	19	57641516	57641517	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	GA	GA						Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:57641516_57641517GA>TC	ENST00000254181.4	+	4	1927_1928	c.1473_1474GA>TC	c.(1471-1476)caGAag>caTCag	p.491_492QK>HQ	USP29_ENST00000598197.1_Missense_Mutation_p.491_492QK>HQ	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	491	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)		TGTGTAAGCAGAAGAGTTGTGT	0.386																																					p.QK491HQ													.	USP29	186	0			c.A1474C						.																																			SO:0001583	missense	0	exon4			AAGCAGAAGAGTT		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		Exception_encountered	19.37:g.57641516_57641517delinsTC	ENSP00000254181:p.Q491_K492delinsHQ	25	0		29	3	NM_020903		Missense_Mutation	DNP	ENST00000254181.4	37	CCDS33124.1																																																																																			.		0.386	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			TC	57641517	GA	TC	57641516	3	4	4	1	0	0	0	0	1	0	0	0	17108	933	33	3	1475	3	USP29	19	57641516	Missense_Mutation	DNP	GA	TCGA-3X-AAVC-01A-21D-A417-09	1646596	57641516	1487467	154	530											
USP29	57663	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	57642416	57642416	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr19:57642416C>A	ENST00000254181.4	+	4	2827	c.2373C>A	c.(2371-2373)aaC>aaA	p.N791K	USP29_ENST00000598197.1_Missense_Mutation_p.N791K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	791	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)		GTTCTGACAACCCAGGAAACA	0.468																																					p.N791K		.											.	.	.	0			c.C2373A						.						51	44	46					19																	57642416		2203	4300	6503	SO:0001583	missense	57663	exon4			TGACAACCCAGGA		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.2373C>A	19.37:g.57642416C>A	ENSP00000254181:p.Asn791Lys	54	0		46	5	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	6.201	0.405285	0.11754	.	.	ENSG00000131864	ENST00000254181	T	0.74421	-0.84	1.51	0.458	0.16670	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.60650	0.2285	L	0.40543	1.245	0.09310	N	1	B	0.33171	0.4	B	0.34873	0.191	T	0.49725	-0.8909	9	0.35671	T	0.21	-2.2652	3.7552	0.08582	0.0:0.757:0.0:0.243	.	791	Q9HBJ7	UBP29_HUMAN	K	791	ENSP00000254181:N791K	ENSP00000254181:N791K	N	+	3	2	USP29	62334228	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	0.864000	0.27926	0.190000	0.20209	0.467000	0.42956	AAC	.		0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57642416	C	A	57642416	3	1	4	1	0	0	0	0	1	0	0	0	17108	506	18	3	2375	3	USP29	19	57642416	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	900	57642416	1486567	155	531											
CSRP2BP	57325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	18143422	18143422	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr20:18143422A>G	ENST00000435364.3	+	6	1845	c.1504A>G	c.(1504-1506)Agg>Ggg	p.R502G	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R501G|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R374G	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	502					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						ACAAGCGAAAAGGGATAGGGG	0.473																																					p.R502G		.											.	.	.	0			c.A1504G						.						147	116	126					20																	18143422		2203	4300	6503	SO:0001583	missense	57325	exon6			GCGAAAAGGGATA	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.1504A>G	20.37:g.18143422A>G	ENSP00000392318:p.Arg502Gly	55	0		32	4	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351655	0.61183	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.54479	0.57;0.58;0.57;0.61	6.17	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.73525	-0.3955	10	0.87932	D	0	-15.6602	15.819	0.78626	0.3959:0.6041:0.0:0.0	.	374;502	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	G	502;501;502;374	ENSP00000278816:R502G;ENSP00000366909:R501G;ENSP00000392318:R502G;ENSP00000425909:R374G	ENSP00000278816:R502G	R	+	1	2	CSRP2BP	18091422	0.981000	0.34729	0.399000	0.26333	0.954000	0.61252	0.242000	0.18087	0.137000	0.18759	0.533000	0.62120	AGG	.		0.473	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		G	18143422	A	G	18143422	3	3	4	1	0	0	0	0	1	0	0	0	3977	63	3	4	1526	4	CSRP2BP	20	18143422	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09		18143422	44882098	156	532											
KCNB1	3745	hgsc.bcm.edu	37	20	47990628	47990628	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr20:47990628C>A	ENST00000371741.4	-	2	1635	c.1469G>T	c.(1468-1470)tGg>tTg	p.W490L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	490					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)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CCTCTTTGTCCATTTCCATTT	0.428																																					p.W490L		.											KCNB1,colon,carcinoma,0,1	KCNB1	0	0			c.G1469T						.						225	207	213					20																	47990628		2203	4300	6503	SO:0001583	missense	3745	exon2			TTTGTCCATTTCC	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1469G>T	20.37:g.47990628C>A	ENSP00000360806:p.Trp490Leu	41	0		62	2	NM_004975	Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758679	0.69763	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.50548	0.74	6.07	6.07	0.98685	.	0.346395	0.30311	N	0.009919	T	0.54886	0.1886	M	0.71581	2.175	0.80722	D	1	P	0.44281	0.831	B	0.44315	0.446	T	0.48080	-0.9066	10	0.20046	T	0.44	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	490	Q14721	KCNB1_HUMAN	L	490;445	ENSP00000360806:W490L	ENSP00000360806:W490L	W	-	2	0	KCNB1	47424035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.876000	0.63079	2.884000	0.98904	0.655000	0.94253	TGG	.		0.428	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		A	47990628	C	A	47990628	3	1	4	1	0	0	0	0	1	0	0	0	8039	595	21	3	1111	3	KCNB1	20	47990628	Missense_Mutation	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	29847206	47990628	15034892	157	533											
YTHDF1	54915	hgsc.bcm.edu	37	20	61834909	61834909	+	Missense_Mutation	SNP	G	G	A	rs146457378		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr20:61834909G>A	ENST00000370339.3	-	4	724	c.383C>T	c.(382-384)gCg>gTg	p.A128V	YTHDF1_ENST00000370333.4_Missense_Mutation_p.A78V|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	128							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						TGCTGAGAACGCAGGGTTTTC	0.567																																					p.A128V		.											.	.	.	0			c.C383T						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	57	54	55		383	5.2	1	20	dbSNP_134	55	0,8600		0,0,4300	no	missense	YTHDF1	NM_017798.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	128/560	61834909	1,13005	2203	4300	6503	SO:0001583	missense	54915	exon4			GAGAACGCAGGGT	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.383C>T	20.37:g.61834909G>A	ENSP00000359364:p.Ala128Val	70	0		55	4	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112949|3.112949	0.56398|0.56398	2.27E-4|2.27E-4	0.0|0.0	ENSG00000149658|ENSG00000149658	ENST00000370339;ENST00000370333|ENST00000342761	T;T|.	0.56444|.	0.46;0.46|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.093440|.	0.64402|.	N|.	0.000001|.	T|T	0.63534|0.63534	0.2519|0.2519	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999995|0.999995	P|.	0.40476|.	0.718|.	B|.	0.29440|.	0.102|.	T|T	0.66834|0.66834	-0.5823|-0.5823	10|6	0.32370|0.72032	T|D	0.25|0.01	-15.007|-15.007	18.6283|18.6283	0.91349|0.91349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	128|.	Q9BYJ9|.	YTHD1_HUMAN|.	V|C	128;78|27	ENSP00000359364:A128V;ENSP00000359358:A78V|.	ENSP00000359358:A78V|ENSP00000339489:R27C	A|R	-|-	2|1	0|0	YTHDF1|YTHDF1	61305354|61305354	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.927000|0.927000	0.56198|0.56198	7.924000|7.924000	0.87555|0.87555	2.400000|2.400000	0.81607|0.81607	0.491000|0.491000	0.48974|0.48974	GCG|CGT	0.000		0.567	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		A	61834909	G	A	61834909	3	1	4	1	0	0	0	0	1	0	0	0	17547	1087	38	1	1304	1	YTHDF1	20	61834909	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	13844281	61834909	1190611	158	534											
ZNF512B	57473	broad.mit.edu	37	20	62594090	62594090	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr20:62594090C>T	ENST00000450537.1	-	13	2073	c.2013G>A	c.(2011-2013)ccG>ccA	p.P671P	ZNF512B_ENST00000369888.1_Silent_p.P671P|ZNF512B_ENST00000217130.3_Silent_p.P671P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	671					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)					CCACACCCAGCGGGTCCTCAG	0.697																																					p.P671P													ZNF512B,colon,carcinoma,-1,1	ZNF512B	72	0			c.G2013A						.						10	11	11					20																	62594090		2180	4257	6437	SO:0001819	synonymous_variant	57473	exon13			ACCCAGCGGGTCC	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.2013G>A	20.37:g.62594090C>T		45	0		46	3	NM_020713	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																			.		0.697	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		T	62594090	C	T	62594090	2	4	4	1	0	0	0	0	0	0	0	1	18005	755	27	1		1	ZNF512B	20	62594090	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	759181	62594090	431430	159	535											
KRTAP27-1	643812	broad.mit.edu	37	21	31709645	31709645	+	Silent	SNP	C	C	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr21:31709645C>T	ENST00000382835.2	-	1	367	c.342G>A	c.(340-342)caG>caA	p.Q114Q		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	114						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						ATTGGCAAGGCTGAGAAACAC	0.522																																					p.Q114Q													.	KRTAP27-1	53	0			c.G342A						.						121	124	123					21																	31709645		2203	4300	6503	SO:0001819	synonymous_variant	643812	exon1			GCAAGGCTGAGAA	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.342G>A	21.37:g.31709645C>T		32	0		22	3	NM_001077711		Silent	SNP	ENST00000382835.2	37	CCDS33532.1																																																																																			.		0.522	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		T	31709645	C	T	31709645	2	4	4	1	0	0	0	0	0	0	0	1	8572	796	28	3		3	KRTAP27-1	21	31709645	Silent	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09		31709645	16420250	160	536											
GNB1L	54584	ucsc.edu	37	22	19808754	19808754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chr22:19808754G>T	ENST00000329517.6	-	3	361	c.125C>A	c.(124-126)tCa>tAa	p.S42*	GNB1L_ENST00000403325.1_Nonsense_Mutation_p.S42*|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Nonsense_Mutation_p.S42*	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	42					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TACTCACCCTGAGAAGAGGAG	0.662																																					p.S42X													.	GNB1L	34	0			c.C125A						.						45	56	52					22																	19808754		2203	4300	6503	SO:0001587	stop_gained	54584	exon3			CACCCTGAGAAGA	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.125C>A	22.37:g.19808754G>T	ENSP00000331313:p.Ser42*	51	0		35	4	NM_053004	Q9H2S2|Q9H4M4	Nonsense_Mutation	SNP	ENST00000329517.6	37	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	37	6.050740	0.97236	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009;ENST00000453108	.	.	.	5.03	3.94	0.45596	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2098	0.54373	0.0:0.0:0.8299:0.1701	.	.	.	.	X	42	.	ENSP00000331313:S42X	S	-	2	0	GNB1L	18188754	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	4.386000	0.59620	2.330000	0.79161	0.313000	0.20887	TCA	.		0.662	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			T	19808754	G	T	19808754	4	4	4	1	0	0	0	0	0	1	0	0	6542	1294	45	3	882	3	GNB1L	22	19808754	Nonsense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09		19808754	31495812	161	537											
MAP7D2	256714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	20030593	20030593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chrX:20030593delG	ENST00000379651.3	-	14	1841	c.1823delC	c.(1822-1824)actfs	p.T608fs	MAP7D2_ENST00000379643.5_Frame_Shift_Del_p.T649fs|MAP7D2_ENST00000543767.1_Frame_Shift_Del_p.T493fs|MAP7D2_ENST00000443379.3_Frame_Shift_Del_p.T563fs|MAP7D2_ENST00000452324.3_Frame_Shift_Del_p.T556fs	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	608					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						TTGGGGATAAGTTTCTGGGGC	0.438																																					p.T649fs		.											.	.	.	0			c.1947delT						.						142	128	133					X																	20030593		2203	4300	6503	SO:0001589	frameshift_variant	256714	exon15			GGATAAGTTTCTG	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.1823delC	X.37:g.20030593delG	ENSP00000368972:p.Thr608fs	70	0		72	23	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Frame_Shift_Del	DEL	ENST00000379651.3	37	CCDS14195.1																																																																																			.		0.438	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		-	20030593	G	-	20030593	7	5	4	1	0	1	0	1	0	0	0	0	9306	1029	36	0	383	0	MAP7D2	23	20030593	Frame_Shift_Del	DEL	G	TCGA-3X-AAVC-01A-21D-A417-09		20030593	135239967	162	538											
PAGE1	8712	bcgsc.ca	37	X	49458702	49458702	+	Splice_Site	SNP	C	C	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chrX:49458702C>A	ENST00000376150.3	-	3	298	c.166G>T	c.(166-168)Ggg>Tgg	p.G56W		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	56					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					TTCCCTTCACCTTGAGCTGCA	0.502																																					p.G56W													.	PAGE1	23	0			c.G166T						.						164	121	136					X																	49458702		2203	4296	6499	SO:0001630	splice_region_variant	8712	exon3			CTTCACCTTGAGC	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"G antigen, family B, 1 (prostate associated)"	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.166+1G>T	X.37:g.49458702C>A		95	0		101	6	NM_003785	Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465354	0.43839	.	.	ENSG00000068985	ENST00000376150	T	0.13307	2.6	1.42	1.42	0.22433	.	.	.	.	.	T	0.31544	0.0800	M	0.76170	2.325	0.09310	N	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.04216	-1.0968	8	.	.	.	.	5.7394	0.18085	0.0:1.0:0.0:0.0	.	56	O75459	GAGB1_HUMAN	W	56	ENSP00000365320:G56W	.	G	-	1	0	PAGE1	49345413	0.451000	0.25705	0.381000	0.26106	0.539000	0.34962	0.143000	0.16115	0.987000	0.38709	0.436000	0.28706	GGG	.		0.502	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1		Missense_Mutation	A	49458702	C	A	49458702	5	1	4	1	0	0	0	0	0	0	1	0	11428	695	24	3	290	3	PAGE1	23	49458702	Splice_Site	SNP	C	TCGA-3X-AAVC-01A-21D-A417-09	29428109	49458702	105811858	163	539											
MSN	4478	broad.mit.edu	37	X	64956743	64956743	+	Missense_Mutation	SNP	A	A	G	rs200135811		TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chrX:64956743A>G	ENST00000360270.5	+	9	1218	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	349					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)	p.E349G(1)	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						gagctgatggagaggctgaag	0.493			T	ALK	ALCL																																p.E349G				Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	MSN	89	1	Substitution - Missense(1)	skin(1)	c.A1046G						.						105	84	91					X																	64956743		2203	4299	6502	SO:0001583	missense	4478	exon9			TGATGGAGAGGCT	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.1046A>G	X.37:g.64956743A>G	ENSP00000353408:p.Glu349Gly	47	1		66	3	NM_002444		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810728	0.50421	.	.	ENSG00000147065	ENST00000360270	D	0.83837	-1.77	4.56	3.39	0.38822	Ezrin/radixin/moesin, C-terminal (1);	0.283599	0.40385	N	0.001109	D	0.83431	0.5253	M	0.85945	2.785	0.58432	D	0.999995	B	0.27229	0.172	B	0.36186	0.219	T	0.77338	-0.2625	10	0.34782	T	0.22	.	5.9609	0.19299	0.8811:0.0:0.1189:0.0	.	349	P26038	MOES_HUMAN	G	349	ENSP00000353408:E349G	ENSP00000353408:E349G	E	+	2	0	MSN	64873468	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.780000	0.75063	0.705000	0.31890	0.481000	0.45027	GAG	.		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		G	64956743	A	G	64956743	3	3	4	1	0	0	0	0	1	0	0	0	9923	304	11	4	1080	4	MSN	23	64956743	Missense_Mutation	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	15498041	64956743	90313817	164	540											
MSN	4478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	64958961	64958961	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chrX:64958961G>A	ENST00000360270.5	+	12	1646	c.1474G>A	c.(1474-1476)Gct>Act	p.A492T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	492					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						AGAGGCTAGTGCTGACCTACG	0.557			T	ALK	ALCL																																p.A492T		.		Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	.	.	0			c.G1474A						.						81	53	63					X																	64958961		2203	4298	6501	SO:0001583	missense	4478	exon12			GCTAGTGCTGACC	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.1474G>A	X.37:g.64958961G>A	ENSP00000353408:p.Ala492Thr	34	0		42	19	NM_002444		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.009168	0.75046	.	.	ENSG00000147065	ENST00000360270	D	0.83163	-1.69	5.36	5.36	0.76844	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	M	0.83312	2.635	0.80722	D	1	B	0.28552	0.215	B	0.39590	0.304	D	0.83901	0.0290	10	0.21540	T	0.41	.	16.6317	0.85035	0.0:0.0:1.0:0.0	.	492	P26038	MOES_HUMAN	T	492	ENSP00000353408:A492T	ENSP00000353408:A492T	A	+	1	0	MSN	64875686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.715000	0.98748	2.242000	0.73789	0.519000	0.50382	GCT	.		0.557	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		A	64958961	G	A	64958961	3	1	4	1	0	0	0	0	1	0	0	0	9923	1319	46	3	1520	3	MSN	23	64958961	Missense_Mutation	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	2218	64958961	90311599	165	541											
FGF16	8823	broad.mit.edu;ucsc.edu	37	X	76709751	76709751	+	Splice_Site	SNP	G	G	A			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chrX:76709751G>A	ENST00000439435.1	+	1	104	c.104G>A	c.(103-105)cGa>cAa	p.R35Q				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						TCTATGGGTCGGTAAGTTTAA	0.393																																					p.S35S													.	FGF16	16	0			c.G105A						.						66	56	59					X																	76709751		1841	4075	5916	SO:0001630	splice_region_variant	8823	exon1			TGGGTCGGTAAGT	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+1G>A	X.37:g.76709751G>A		58	0		67	21	NM_003868		Splice_Site	SNP	ENST00000439435.1	37		.	.	.	.	.	.	.	.	.	.	G	14.39	2.520520	0.44866	.	.	ENSG00000196468	ENST00000439435	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	T	0.71039	0.3293	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.75560	-0.3275	3	.	.	.	.	16.3197	0.82945	0.0:0.0:1.0:0.0	.	.	.	.	Q	35	.	.	R	+	2	0	FGF16	76596407	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.923000	0.56469	2.107000	0.64212	0.600000	0.82982	CGA	.		0.393	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868	Missense_Mutation	A	76709751	G	A	76709751	5	1	4	1	0	0	0	0	0	0	1	0	5866	1130	39	1	107	1	FGF16	23	76709751	Splice_Site	SNP	G	TCGA-3X-AAVC-01A-21D-A417-09	11750790	76709751	78560809	166	542											
DNASE1L1	1774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	153631921	153631921	+	Silent	SNP	A	A	G			TCGA-3X-AAVC-01A-21D-A417-09	TCGA-3X-AAVC-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1f8ff080-bd3a-4f6c-a410-8072cad1487d	bec1f340-525b-4029-bf48-4e747de711b1	g.chrX:153631921A>G	ENST00000393638.1	-	5	640	c.354T>C	c.(352-354)gaT>gaC	p.D118D	DNASE1L1_ENST00000369809.1_Silent_p.D118D	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	118					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(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)					CGTCATCCTCATCGTTGTACA	0.552																																					p.D118D		.											.	.	.	0			c.T354C						.						125	103	111					X																	153631921		2203	4300	6503	SO:0001819	synonymous_variant	1774	exon5			ATCCTCATCGTTG	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.354T>C	X.37:g.153631921A>G		42	0		42	14	NM_006730	D3DWW7|Q5HY41	Silent	SNP	ENST00000393638.1	37	CCDS14747.1																																																																																			.		0.552	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			G	153631921	A	G	153631921	2	3	4	1	0	0	0	0	0	0	0	1	4675	214	8	4		4	DNASE1L1	23	153631921	Silent	SNP	A	TCGA-3X-AAVC-01A-21D-A417-09	76922170	153631921	1638639	167	543											
KIAA0562	9731	bcgsc.ca	37	1	3750520	3750520	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:3750520G>A	ENST00000378230.3	-	12	1889	c.1565C>T	c.(1564-1566)aCa>aTa	p.T522I	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	522						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						ACAGTGAGCTGTTTCAAGTTT	0.403																																					p.T522I													.	CEP104	79	0			c.C1565T						.						130	122	124					1																	3750520		2203	4300	6503	SO:0001583	missense	9731	exon12			TGAGCTGTTTCAA	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.1565C>T	1.37:g.3750520G>A	ENSP00000367476:p.Thr522Ile	77	0		54	4	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	3.015	-0.203004	0.06219	.	.	ENSG00000116198	ENST00000378230	T	0.27402	1.67	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.182863	0.47852	D	0.000204	T	0.50820	0.1638	L	0.58302	1.8	0.80722	D	1	P;D	0.89917	0.774;1.0	B;D	0.87578	0.211;0.998	T	0.37619	-0.9698	10	0.20046	T	0.44	.	17.3632	0.87357	0.0:0.0:1.0:0.0	.	522;522	O60308-3;O60308	.;CE104_HUMAN	I	522	ENSP00000367476:T522I	ENSP00000367476:T522I	T	-	2	0	CEP104	3740380	0.997000	0.39634	0.018000	0.16275	0.069000	0.16628	5.021000	0.64072	2.329000	0.79093	0.467000	0.42956	ACA	.		0.403	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		A	3750520	G	A	3750520	3	1	5	1	0	0	0	0	1	0	0	0	8211	1377	48	3	1256	3	KIAA0562	1	3750520	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		3750520	245500101	1	544											
EPHA8	2046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	22915663	22915663	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:22915663C>T	ENST00000166244.3	+	5	1351	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	EPHA8_ENST00000374644.4_Missense_Mutation_p.R427W|EPHA8_ENST00000538803.1_Missense_Mutation_p.R427W	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	427	Fibronectin type-III 1. {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)		CGAGCCCCGCCGGGCCGCTGT	0.667																																					p.R427W		.											.	.	.	0			c.C1279T						.						29	28	29					1																	22915663		2203	4297	6500	SO:0001583	missense	2046	exon5			CCCCGCCGGGCCG	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.1279C>T	1.37:g.22915663C>T	ENSP00000166244:p.Arg427Trp	77	0		57	11	NM_020526	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133804	0.56828	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.74209	-0.82;0.91;0.91	4.52	2.47	0.30058	Fibronectin, type III (2);	0.567300	0.17178	N	0.183994	T	0.78323	0.4265	L	0.50333	1.59	0.09310	N	1	D;D	0.71674	0.985;0.998	B;P	0.57776	0.232;0.827	T	0.69595	-0.5103	10	0.72032	D	0.01	.	12.0714	0.53618	0.4841:0.5159:0.0:0.0	.	427;427	P29322;P29322-2	EPHA8_HUMAN;.	W	427	ENSP00000166244:R427W;ENSP00000363775:R427W;ENSP00000440274:R427W	ENSP00000166244:R427W	R	+	1	2	EPHA8	22788250	0.000000	0.05858	0.899000	0.35326	0.607000	0.37147	1.159000	0.31749	0.515000	0.28320	0.436000	0.28706	CGG	.		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22915663	C	T	22915663	3	4	5	1	0	0	0	0	1	0	0	0	5189	643	23	1	1297	1	EPHA8	1	22915663	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	19165143	22915663	226334958	2	545											
HMGCL	3155	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	24140684	24140684	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:24140684G>A	ENST00000374490.3	-	5	536	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	HMGCL_ENST00000436439.2_Intron|HMGCL_ENST00000374483.4_Missense_Mutation_p.R140W|HMGCL_ENST00000509389.1_Intron	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	165			R -> Q (in HMGCLD; dbSNP:rs199587895). {ECO:0000269|PubMed:19036343}.		acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		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;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ACTCACCCCCGCACAGAAATA	0.488																																					p.R165W		.											.	.	.	0			c.C493T						.						97	94	95					1																	24140684		2203	4300	6503	SO:0001583	missense	3155	exon5			ACCCCCGCACAGA	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.493C>T	1.37:g.24140684G>A	ENSP00000363614:p.Arg165Trp	38	0		20	5	NM_000191	B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	CCDS243.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311572	0.60414	.	.	ENSG00000117305	ENST00000374490;ENST00000374483	D;D	0.98362	-4.89;-4.89	5.39	3.34	0.38264	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	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	0.98411	1.0572	10	0.87932	D	0	.	14.281	0.66211	0.0:0.0:0.7245:0.2755	.	140;165	B1AK13;P35914	.;HMGCL_HUMAN	W	165;140	ENSP00000363614:R165W;ENSP00000363607:R140W	ENSP00000363607:R140W	R	-	1	2	HMGCL	24013271	0.998000	0.40836	0.994000	0.49952	0.277000	0.26821	0.508000	0.22692	1.345000	0.45676	0.455000	0.32223	CGG	.		0.488	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		A	24140684	G	A	24140684	3	1	5	1	0	0	0	0	1	0	0	0	7256	1086	38	1	504	1	HMGCL	1	24140684	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	1225021	24140684	225109937	3	546											
GPN2	54707	broad.mit.edu	37	1	27210710	27210710	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:27210710C>A	ENST00000374135.4	-	4	1001	c.801G>T	c.(799-801)gaG>gaT	p.E267D	GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374133.3_Missense_Mutation_p.E88D	NM_018066.3	NP_060536.3			GPN-loop GTPase 2											endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						AGCTTCGCTGCTCTTGGGCTC	0.537																																					p.E267D													GPN2,bladder,carcinoma,-2,1	GPN2	18	0			c.G801T						.						90	77	81					1																	27210710		2203	4300	6503	SO:0001583	missense	54707	exon4			TCGCTGCTCTTGG	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.801G>T	1.37:g.27210710C>A	ENSP00000363250:p.Glu267Asp	26	0		13	3	NM_018066		Missense_Mutation	SNP	ENST00000374135.4	37	CCDS289.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300563	0.40694	.	.	ENSG00000142751	ENST00000374135;ENST00000374133	T;T	0.27557	2.15;1.66	5.41	4.5	0.54988	.	0.052266	0.85682	D	0.000000	T	0.16342	0.0393	N	0.08118	0	0.41999	D	0.990886	B	0.21309	0.054	B	0.23419	0.046	T	0.05649	-1.0872	10	0.49607	T	0.09	-28.3688	8.6629	0.34103	0.0:0.7661:0.0:0.2339	.	267	Q9H9Y4	GPN2_HUMAN	D	267;88	ENSP00000363250:E267D;ENSP00000363248:E88D	ENSP00000363248:E88D	E	-	3	2	GPN2	27083297	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.051000	0.49885	1.281000	0.44480	0.491000	0.48974	GAG	.		0.537	GPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012175.2	NM_018066		A	27210710	C	A	27210710	3	1	5	1	0	0	0	0	1	0	0	0	6644	796	28	3	139	3	GPN2	1	27210710	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	3070026	27210710	222039911	4	547											
GJA9	81025	hgsc.bcm.edu;bcgsc.ca	37	1	39340249	39340249	+	Silent	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:39340249G>T	ENST00000360786.3	-	1	1774	c.1522C>A	c.(1522-1524)Cgg>Agg	p.R508R	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Silent_p.R508R|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	508					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)			GTGGGAACCCGCCTACCAATG	0.453																																					p.R508R		.											.	.	.	0			c.C1522A						.						76	76	76					1																	39340249		2203	4300	6503	SO:0001819	synonymous_variant	81025	exon2			GAACCCGCCTACC	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.1522C>A	1.37:g.39340249G>T		67	0		70	4	NM_030772	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	CCDS432.1																																																																																			.		0.453	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		T	39340249	G	T	39340249	2	4	5	1	0	0	0	0	0	0	0	1	6432	1086	38	2		2	GJA9	1	39340249	Silent	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	12129539	39340249	209910372	5	548											
MACF1	23499	broad.mit.edu	37	1	39798190	39798190	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:39798190A>G	ENST00000372915.3	+	36	6032	c.5945A>G	c.(5944-5946)aAt>aGt	p.N1982S	MACF1_ENST00000564288.1_Missense_Mutation_p.N1977S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.N417S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.N2014S|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1982					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)			AATGTGCAAAATGGACAGAGG	0.458																																					.													.	MACF1	909	0			.						.						91	95	94					1																	39798190		2203	4300	6503	SO:0001583	missense	23499	.			TGCAAAATGGACA	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.5945A>G	1.37:g.39798190A>G	ENSP00000362006:p.Asn1982Ser	23	0		20	3	.	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	0.556	-0.847321	0.02651	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.58797	0.31;1.5	5.3	2.59	0.31030	.	0.714379	0.12604	N	0.454498	T	0.23532	0.0569	N	0.00841	-1.15	0.29086	N	0.882363	B	0.02656	0.0	B	0.06405	0.002	T	0.15065	-1.0450	10	0.39692	T	0.17	.	5.3548	0.16055	0.636:0.1616:0.2024:0.0	.	1982	Q9UPN3	MACF1_HUMAN	S	1982;417	ENSP00000362006:N1982S;ENSP00000289893:N417S	ENSP00000289893:N417S	N	+	2	0	MACF1	39570777	0.663000	0.27448	0.705000	0.30386	0.251000	0.25915	2.027000	0.41078	0.845000	0.35118	0.454000	0.30748	AAT	.		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39798190	A	G	39798190	3	3	5	1	0	0	0	0	1	0	0	0	9180	101	4	4	6021	4	MACF1	1	39798190	Missense_Mutation	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	457941	39798190	209452431	6	549											
C8B	732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	57409394	57409394	+	Silent	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:57409394G>A	ENST00000371237.4	-	8	1275	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	C8B_ENST00000543257.1_Silent_p.C351C|C8B_ENST00000535057.1_Silent_p.C341C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	403	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)	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						GAATACCTCTGCATTTGCCTA	0.428																																					p.C403C		.											.	.	.	0			c.C1209T						.						217	184	196					1																	57409394		2203	4300	6503	SO:0001819	synonymous_variant	732	exon8			ACCTCTGCATTTG	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.1209C>T	1.37:g.57409394G>A		56	0		62	12	NM_000066	A1L4K7	Silent	SNP	ENST00000371237.4	37	CCDS30730.1																																																																																			.		0.428	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			A	57409394	G	A	57409394	2	1	5	1	0	0	0	0	0	0	0	1	2424	1311	46	3		3	C8B	1	57409394	Silent	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	17611204	57409394	191841227	7	550											
GBP1	2633	broad.mit.edu	37	1	89528730	89528730	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:89528730T>C	ENST00000370473.4	-	2	407	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	63	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)		CCACTCACCCTTTTTCTTTCC	0.493																																					p.K63R													GBP1,middle_lobe,carcinoma,0,1	GBP1	68	0			c.A188G						.						111	101	105					1																	89528730		2203	4300	6503	SO:0001583	missense	2633	exon2			TCACCCTTTTTCT	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.188A>G	1.37:g.89528730T>C	ENSP00000359504:p.Lys63Arg	94	1		92	3	NM_002053	D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	T	5.523	0.281439	0.10458	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.74947	-0.89	4.76	-1.55	0.08558	Guanylate-binding protein, N-terminal (1);	0.763001	0.12196	N	0.490681	T	0.47210	0.1433	L	0.58510	1.815	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.49133	-0.8971	10	0.40728	T	0.16	.	7.8153	0.29256	0.0:0.0895:0.4196:0.4909	.	63	P32455	GBP1_HUMAN	R	63;26	ENSP00000359504:K63R	ENSP00000359504:K63R	K	-	2	0	GBP1	89301318	0.000000	0.05858	0.474000	0.27266	0.035000	0.12851	-0.894000	0.04123	-0.104000	0.12154	0.260000	0.18958	AAG	.		0.493	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		C	89528730	T	C	89528730	3	2	5	1	0	0	0	0	1	0	0	0	6298	1609	56	4	1630	4	GBP1	1	89528730	Missense_Mutation	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09	32119336	89528730	159721891	8	551											
PSMA5	5686	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	109964511	109964511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:109964511G>A	ENST00000271308.4	-	2	87	c.67C>T	c.(67-69)Caa>Taa	p.Q23*	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Intron	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	23					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)	cytoplasm (GO:0005737)|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(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TATTCCACTTGAAATAATCTT	0.353																																					p.Q23X		.											.	.	.	0			c.C67T						.						74	70	71					1																	109964511		2203	4299	6502	SO:0001587	stop_gained	5686	exon2			CCACTTGAAATAA	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"Proteasome (prosome, macropain) subunits"	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.67C>T	1.37:g.109964511G>A	ENSP00000271308:p.Gln23*	64	0		57	15	NM_002790	B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Nonsense_Mutation	SNP	ENST00000271308.4	37	CCDS799.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873988	0.91664	.	.	ENSG00000143106	ENST00000271308	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-37.4456	15.9751	0.80057	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	.	Q	-	1	0	PSMA5	109766034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.331000	0.96430	2.497000	0.84241	0.655000	0.94253	CAA	.		0.353	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790		A	109964511	G	A	109964511	4	1	5	1	0	0	0	0	0	1	0	0	12712	1299	45	3	690	3	PSMA5	1	109964511	Nonsense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	20435781	109964511	139286110	9	552											
PEX11B	8799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	145518133	145518133	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:145518133G>A	ENST00000369306.3	+	3	384	c.235G>A	c.(235-237)Gat>Aat	p.D79N	GNRHR2_ENST00000312753.5_RNA|PEX11B_ENST00000537888.1_Missense_Mutation_p.D65N	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	79					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCACCTATCAGATGTTGTCCT	0.488																																					p.D79N		.											.	.	.	0			c.G235A						.						216	188	198					1																	145518133		2203	4300	6503	SO:0001583	missense	8799	exon3			CTATCAGATGTTG	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"peroxisomal biogenesis factor 11B"			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.235G>A	1.37:g.145518133G>A	ENSP00000358312:p.Asp79Asn	48	0		51	17	NM_003846	B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	CCDS917.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163236	0.94727	.	.	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.62364	0.03;0.03	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	M	0.80982	2.52	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66497	0.944;0.944	T	0.77542	-0.2549	10	0.62326	D	0.03	-9.4312	16.4665	0.84080	0.0:0.0:1.0:0.0	.	65;79	B4DXH9;O96011	.;PX11B_HUMAN	N	79;65	ENSP00000358312:D79N;ENSP00000437510:D65N	ENSP00000358312:D79N	D	+	1	0	PEX11B	144229490	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.218000	0.95166	2.756000	0.94617	0.655000	0.94253	GAT	.		0.488	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		A	145518133	G	A	145518133	3	1	5	1	0	0	0	0	1	0	0	0	11777	942	33	3	263	3	PEX11B	1	145518133	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	35553622	145518133	103732488	10	553											
KLHL20	27252	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	173743534	173743534	+	Silent	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:173743534A>G	ENST00000209884.4	+	9	1522	c.1386A>G	c.(1384-1386)ttA>ttG	p.L462L	KLHL20_ENST00000546011.1_Silent_p.L273L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	462					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						GAGGGTTCTTATATGCTGTAG	0.507																																					p.L462L	GBM(159;862 2695 6559 23041)	.											.	.	.	0			c.A1386G						.						248	216	227					1																	173743534		2203	4300	6503	SO:0001819	synonymous_variant	27252	exon9			GTTCTTATATGCT	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.1386A>G	1.37:g.173743534A>G		94	0		110	6	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	CCDS1310.1																																																																																			.		0.507	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		G	173743534	A	G	173743534	2	3	5	1	0	0	0	0	0	0	0	1	8402	446	16	4		4	KLHL20	1	173743534	Silent	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	28225401	173743534	75507087	11	554											
RFWD2	64326	hgsc.bcm.edu	37	1	175956191	175956191	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:175956191G>T	ENST00000367669.3	-	18	2535	c.2021C>A	c.(2020-2022)aCt>aAt	p.T674N	RFWD2_ENST00000308769.8_Missense_Mutation_p.T650N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	674					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTTAGCAAAGTCTTAGAAAG	0.323																																					p.T674N	Ovarian(134;1413 1765 5706 35534 51541)	.											.	.	.	0			c.C2021A						.						73	71	72					1																	175956191		2203	4300	6503	SO:0001583	missense	64326	exon18			AGCAAAGTCTTAG	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2021C>A	1.37:g.175956191G>T	ENSP00000356641:p.Thr674Asn	48	0		44	4	NM_022457	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719707	0.68844	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.70282	-0.47;-0.47;-0.47	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047887	0.85682	D	0.000000	T	0.79155	0.4398	L	0.36672	1.1	0.80722	D	1	P;P;P;D;P	0.57899	0.591;0.851;0.874;0.981;0.851	B;P;B;D;P	0.69824	0.352;0.775;0.262;0.966;0.775	T	0.79899	-0.1608	10	0.62326	D	0.03	-12.7845	19.3277	0.94268	0.0:0.0:1.0:0.0	.	449;434;650;674;674	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	N	449;674;509;650	ENSP00000356641:T674N;ENSP00000356638:T509N;ENSP00000310943:T650N	ENSP00000310943:T650N	T	-	2	0	RFWD2	174222814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.931000	0.92884	2.723000	0.93209	0.655000	0.94253	ACT	.		0.323	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		T	175956191	G	T	175956191	3	4	5	1	0	0	0	0	1	0	0	0	13305	1029	36	3	186	3	RFWD2	1	175956191	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	2212657	175956191	73294430	12	555											
FAM5C	339479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	190068073	190068073	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:190068073C>T	ENST00000367462.3	-	8	1607	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	BRINP3_ENST00000534846.1_Missense_Mutation_p.R357H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	459					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)											GGTGCCGCAGCGGGTGCGGTT	0.617																																					p.R459H		.											.	.	.	0			c.G1376A						.						75	73	74					1																	190068073		2203	4300	6503	SO:0001583	missense	339479	exon8			CCGCAGCGGGTGC	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.1376G>A	1.37:g.190068073C>T	ENSP00000356432:p.Arg459His	19	0		16	6	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786286	0.70337	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.42900	0.96;0.96	5.65	5.65	0.86999	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65573	0.936;0.865	T	0.64702	-0.6345	10	0.59425	D	0.04	.	17.2216	0.86959	0.0:1.0:0.0:0.0	.	357;459	B7Z260;Q76B58	.;FAM5C_HUMAN	H	459;357	ENSP00000356432:R459H;ENSP00000438022:R357H	ENSP00000356432:R459H	R	-	2	0	FAM5C	188334696	1.000000	0.71417	0.997000	0.53966	0.584000	0.36387	7.734000	0.84928	2.656000	0.90262	0.591000	0.81541	CGC	.		0.617	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190068073	C	T	190068073	3	4	5	1	0	0	0	0	1	0	0	0	5616	768	27	1	928	1	FAM5C	1	190068073	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	14111882	190068073	59182548	13	556											
RD3	343035	broad.mit.edu;bcgsc.ca	37	1	211652604	211652604	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:211652604A>G	ENST00000367002.4	-	3	1525	c.362T>C	c.(361-363)gTg>gCg	p.V121A	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	121					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CTCCTGCAGCACCGAGCGGAA	0.697																																					p.V121A													.	RD3	26	0			c.T362C						.						17	17	17					1																	211652604		2200	4299	6499	SO:0001583	missense	343035	exon3			TGCAGCACCGAGC	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.362T>C	1.37:g.211652604A>G	ENSP00000355969:p.Val121Ala	30	0		20	4	NM_183059	A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154217	0.57259	.	.	ENSG00000198570	ENST00000367002	T	0.18810	2.19	4.09	4.09	0.47781	.	0.136386	0.47852	D	0.000220	T	0.28699	0.0711	M	0.79475	2.455	0.44531	D	0.997487	B	0.19583	0.037	B	0.22386	0.039	T	0.18272	-1.0342	10	0.72032	D	0.01	-33.8818	13.4154	0.60966	1.0:0.0:0.0:0.0	.	121	Q7Z3Z2	RD3_HUMAN	A	121	ENSP00000355969:V121A	ENSP00000355969:V121A	V	-	2	0	RD3	209719227	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.334000	0.59291	1.637000	0.50538	0.454000	0.30748	GTG	.		0.697	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		G	211652604	A	G	211652604	3	3	5	1	0	0	0	0	1	0	0	0	13232	159	6	4	229	4	RD3	1	211652604	Missense_Mutation	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	21584531	211652604	37598017	14	557											
HIST3H2A	92815	hgsc.bcm.edu	37	1	228645259	228645259	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr1:228645259G>A	ENST00000366695.2	-	1	301	c.260C>T	c.(259-261)gCc>gTc	p.A87V	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	87					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GTTGCGGATGGCCAGCTGCAG	0.657																																					p.A87V		.											.	.	.	0			c.C260T						.						84	78	80					1																	228645259		2203	4299	6502	SO:0001583	missense	92815	exon1			CGGATGGCCAGCT	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.260C>T	1.37:g.228645259G>A	ENSP00000355656:p.Ala87Val	75	0		81	4	NM_033445	B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.442869	0.83993	.	.	ENSG00000181218	ENST00000366695	T	0.78816	-1.21	4.07	4.07	0.47477	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.47852	D	0.000209	D	0.90913	0.7144	H	0.95712	3.71	0.50171	D	0.999854	D	0.89917	1.0	D	0.79108	0.992	D	0.93233	0.6619	10	0.87932	D	0	.	14.5656	0.68173	0.0:0.0:1.0:0.0	.	87	Q7L7L0	H2A3_HUMAN	V	87	ENSP00000355656:A87V	ENSP00000355656:A87V	A	-	2	0	HIST3H2A	226711882	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.037000	0.93765	2.549000	0.85964	0.655000	0.94253	GCC	.		0.657	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		A	228645259	G	A	228645259	3	1	5	1	0	0	0	0	1	0	0	0	7209	1203	42	3	136	3	HIST3H2A	1	228645259	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	16992655	228645259	20605362	15	558											
AAK1	22848	hgsc.bcm.edu	37	2	69741780	69741780	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:69741780C>G	ENST00000409085.4	-	13	1975	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	533	Gln-rich.		Q -> H. {ECO:0000269|PubMed:17344846}.		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						gctgctgctgctgGTAGAAAT	0.532																																					p.Q533H		.											AAK1_ENST00000409085,NS,carcinoma,0,2	AAK1_ENST00000409085	0	0			c.G1599C						.						38	40	39					2																	69741780		2200	4298	6498	SO:0001583	missense	22848	exon13			CTGCTGCTGGTAG	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.1599G>C	2.37:g.69741780C>G	ENSP00000386456:p.Gln533His	43	1		45	3	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	8.018	0.758927	0.15846	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.78003	1.57;-1.13;-1.14	4.89	3.07	0.35406	.	0.854162	0.10089	N	0.717362	T	0.57725	0.2073	N	0.14661	0.345	0.25395	N	0.988498	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41610	-0.9499	10	0.11794	T	0.64	0.4343	6.749	0.23477	0.0:0.7262:0.1782:0.0957	.	533;533;533	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	H	533	ENSP00000386342:Q533H;ENSP00000386456:Q533H;ENSP00000385181:Q533H	ENSP00000385181:Q533H	Q	-	3	2	AAK1	69595284	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.245000	0.18142	0.670000	0.31165	0.447000	0.29281	CAG	.		0.532	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		G	69741780	C	G	69741780	3	3	5	1	0	0	0	0	1	0	0	0	16	796	28	5	1326	5	AAK1	2	69741780	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09		69741780	173457593	16	559											
ADD2	119	hgsc.bcm.edu	37	2	70933527	70933527	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:70933527G>A	ENST00000264436.4	-	3	458	c.14C>T	c.(13-15)aCg>aTg	p.T5M	ADD2_ENST00000413157.2_Missense_Mutation_p.T5M|ADD2_ENST00000430656.1_Missense_Mutation_p.T21M|ADD2_ENST00000355733.3_Missense_Mutation_p.T5M|ADD2_ENST00000407644.2_Missense_Mutation_p.T5M|ADD2_ENST00000473232.1_5'Flank	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	5					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)	p.T5M(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTCGGGGACCGTCTCTTCGCT	0.637																																					p.T21M		.											ADD2_ENST00000264436,colon,carcinoma,0,2	ADD2_ENST00000264436	0	2	Substitution - Missense(2)	large_intestine(2)	c.C62T						.						47	49	48					2																	70933527		2202	4300	6502	SO:0001583	missense	119	exon2			GGGACCGTCTCTT	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.14C>T	2.37:g.70933527G>A	ENSP00000264436:p.Thr5Met	62	0		39	2	NM_001185055	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566111	0.45694	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976;ENST00000447731	T;T;T;T;T;T;T;T	0.39997	3.31;3.31;3.1;1.84;3.01;1.05;1.43;1.41	5.64	3.74	0.42951	.	0.838109	0.10718	N	0.642033	T	0.23532	0.0569	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P;P	0.50819	0.916;0.773;0.606;0.861;0.939;0.872	B;B;B;B;B;B	0.37480	0.179;0.229;0.058;0.179;0.179;0.251	T	0.05852	-1.0860	10	0.87932	D	0	-0.0539	8.2528	0.31737	0.0844:0.0:0.7569:0.1586	.	21;5;5;5;5;5	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	M	5;5;5;5;5;5;5;5;5;21;5;5;5	ENSP00000264436:T5M;ENSP00000384677:T5M;ENSP00000347972:T5M;ENSP00000430243:T5M;ENSP00000388072:T5M;ENSP00000398112:T21M;ENSP00000412357:T5M;ENSP00000412681:T5M	ENSP00000264436:T5M	T	-	2	0	ADD2	70787035	0.162000	0.22906	0.105000	0.21289	0.736000	0.42039	1.508000	0.35769	2.807000	0.96579	0.591000	0.81541	ACG	.		0.637	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70933527	G	A	70933527	3	1	5	1	0	0	0	0	1	0	0	0	305	1145	40	1	2403	1	ADD2	2	70933527	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	1191747	70933527	172265846	17	560											
KRCC1	51315	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	88328025	88328027	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	TAA	TAA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:88328025_88328027delTAA	ENST00000347055.3	-	4	449_451	c.56_58delTTA	c.(55-60)attaaa>aaa	p.I19del		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	19										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCTGTACTTTAATATAATCTTC	0.369																																					p.19_20del		.											.	.	.	0			c.57_59del						.																																			SO:0001651	inframe_deletion	51315	exon4			GTACTTTAATATA	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.56_58delTTA	2.37:g.88328025_88328027delTAA	ENSP00000340083:p.Ile19del	32	0		43	10	NM_016618	Q3B7J7	In_Frame_Del	DEL	ENST00000347055.3	37	CCDS2000.1																																																																																			.		0.369	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		-	88328027	TAA	-	88328025	7	5	5	1	0	1	0	1	0	0	0	0	8468	1763	61	0	725	0	KRCC1	2	88328025	In_Frame_Del	DEL	TAA	TCGA-3X-AAVE-01A-11D-A417-09	17394498	88328025	154871348	18	561											
LMAN2L	81562	bcgsc.ca	37	2	97373516	97373516	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:97373516G>T	ENST00000264963.4	-	7	861	c.839C>A	c.(838-840)cCa>cAa	p.P280Q	LMAN2L_ENST00000537039.1_Missense_Mutation_p.P142Q|LMAN2L_ENST00000426463.2_Missense_Mutation_p.P146Q|LMAN2L_ENST00000534882.1_Missense_Mutation_p.P135Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.P291Q|FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	280					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TTCCTCTTCTGGGGTTCTCTC	0.468																																					p.P291Q													.	LMAN2L	27	0			c.C872A						.						109	109	109					2																	97373516		2203	4300	6503	SO:0001583	missense	81562	exon8			TCTTCTGGGGTTC	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.839C>A	2.37:g.97373516G>T	ENSP00000264963:p.Pro280Gln	64	0		48	4	NM_001142292	B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212604	0.39102	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.77620	0.88;0.87;-1.11;-1.06;-1.1	5.62	4.68	0.58851	Concanavalin A-like lectin/glucanase, subgroup (1);	0.268725	0.35615	N	0.003093	T	0.70640	0.3247	L	0.57536	1.79	0.45097	D	0.998115	B;B;B;B;B	0.27823	0.19;0.175;0.19;0.015;0.167	B;B;B;B;B	0.24006	0.038;0.035;0.038;0.005;0.05	T	0.68526	-0.5385	10	0.40728	T	0.16	.	9.0612	0.36436	0.0806:0.1512:0.7682:0.0	.	135;153;146;291;280	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	Q	280;291;146;142;135	ENSP00000264963:P280Q;ENSP00000366280:P291Q;ENSP00000396391:P146Q;ENSP00000441701:P142Q;ENSP00000438501:P135Q	ENSP00000264963:P280Q	P	-	2	0	LMAN2L	96737243	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	2.247000	0.43151	2.633000	0.89246	0.655000	0.94253	CCA	.		0.468	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		T	97373516	G	T	97373516	3	4	5	1	0	0	0	0	1	0	0	0	8869	1348	47	3	215	3	LMAN2L	2	97373516	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	9045491	97373516	145825857	19	562											
GPR17	2840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	128407628	128407628	+	Silent	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:128407628A>G	ENST00000272644.3	+	2	116	c.42A>G	c.(40-42)ccA>ccG	p.P14P	GPR17_ENST00000486700.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Silent_p.P14P|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_Intron|GPR17_ENST00000544369.1_Silent_p.P14P	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	14					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)		GAAAGCCCCCAAGAGAGATGC	0.572											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P14P		.											.	.	.	0			c.A42G						.						50	44	46					2																	128407628		2202	4299	6501	SO:0001819	synonymous_variant	2840	exon2			GCCCCCAAGAGAG		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.42A>G	2.37:g.128407628A>G		103	0	1564	88	27	NM_005291	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	CCDS2148.1																																																																																			.		0.572	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			G	128407628	A	G	128407628	2	3	5	1	0	0	0	0	0	0	0	1	6693	117	5	4		4	GPR17	2	128407628	Silent	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	31034112	128407628	114791745	20	563											
GPD2	2820	hgsc.bcm.edu;broad.mit.edu	37	2	157427724	157427724	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:157427724G>T	ENST00000310454.6	+	13	2059	c.1687G>T	c.(1687-1689)Gtc>Ttc	p.V563F	GPD2_ENST00000438166.2_Missense_Mutation_p.V563F|GPD2_ENST00000409674.1_Missense_Mutation_p.V563F|GPD2_ENST00000409125.4_Missense_Mutation_p.V336F|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	563					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						CTTTCTAAATGTCCAGGCAGC	0.423																																					p.V563F		.											GPD2,right_lower_lobe,carcinoma,0,1	GPD2	0	0			c.G1687T						.						141	135	137					2																	157427724		2203	4300	6503	SO:0001583	missense	2820	exon13			CTAAATGTCCAGG		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.1687G>T	2.37:g.157427724G>T	ENSP00000308610:p.Val563Phe	87	0		88	4	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308963	0.81247	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	6.06	6.06	0.98353	.	0.111956	0.64402	D	0.000014	T	0.61223	0.2330	M	0.89287	3.02	0.80722	D	1	B	0.09022	0.002	B	0.19148	0.024	T	0.61202	-0.7110	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	563	P43304	GPDM_HUMAN	F	563;336;563;563	ENSP00000308610:V563F;ENSP00000386484:V336F;ENSP00000409708:V563F;ENSP00000386425:V563F	ENSP00000308610:V563F	V	+	1	0	GPD2	157135970	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.756000	0.98918	2.880000	0.98712	0.650000	0.86243	GTC	.		0.423	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			T	157427724	G	T	157427724	3	4	5	1	0	0	0	0	1	0	0	0	6632	1377	48	3	1733	3	GPD2	2	157427724	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	29020096	157427724	85771649	21	564											
SCN2A	6326	broad.mit.edu	37	2	166231253	166231253	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:166231253G>T	ENST00000375437.2	+	22	4321	c.4031G>T	c.(4030-4032)tGt>tTt	p.C1344F	SCN2A_ENST00000375427.2_Missense_Mutation_p.C1344F|SCN2A_ENST00000283256.6_Missense_Mutation_p.C1344F|SCN2A_ENST00000357398.3_Missense_Mutation_p.C1344F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1344					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)	CTTCTGGTTTGTCTGATCTTT	0.373																																					p.C1344F													.	SCN2A	589	0			c.G4031T						.						164	155	158					2																	166231253		2203	4300	6503	SO:0001583	missense	6326	exon21			TGGTTTGTCTGAT	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.4031G>T	2.37:g.166231253G>T	ENSP00000364586:p.Cys1344Phe	56	1		54	4	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200051	0.79015	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	4.48	4.48	0.54585	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99184	0.9717	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.99204	1.0874	10	0.87932	D	0	.	17.5276	0.87805	0.0:0.0:1.0:0.0	.	1344;1344	Q99250-2;Q99250	.;SCN2A_HUMAN	F	1344	ENSP00000364586:C1344F;ENSP00000349973:C1344F;ENSP00000283256:C1344F;ENSP00000364576:C1344F	ENSP00000283256:C1344F	C	+	2	0	SCN2A	165939499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.192000	0.70111	0.467000	0.42956	TGT	.		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166231253	G	T	166231253	3	4	5	1	0	0	0	0	1	0	0	0	13961	1377	48	3	4209	3	SCN2A	2	166231253	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	8803529	166231253	76968120	22	565											
UBR3	130507	hgsc.bcm.edu	37	2	170780438	170780438	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:170780438G>T	ENST00000272793.5	+	12	1916		c.e12-1		UBR3_ENST00000418381.1_Splice_Site			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)						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						GTTTATTCCAGCCAGCACCTA	0.323																																					.		.											.	.	.	0			c.1867-1G>T						.						148	119	127					2																	170780438		692	1589	2281	SO:0001630	splice_region_variant	130507	exon12			ATTCCAGCCAGCA	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.1867-1G>T	2.37:g.170780438G>T		67	0		93	3	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	G	24.9	4.580486	0.86645	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBR3	170488684	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	.	.		0.323	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	Intron	T	170780438	G	T	170780438	5	4	5	1	0	0	0	0	0	0	1	0	16952	985	34	3	1912	3	UBR3	2	170780438	Splice_Site	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	4549185	170780438	72418935	23	566											
ZAK	51776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	174085956	174085956	+	Intron	SNP	A	A	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:174085956A>T	ENST00000375213.3	+	11	1065				MLTK_ENST00000338983.3_Missense_Mutation_p.M356L|MLTK_ENST00000431503.2_Missense_Mutation_p.M255L|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.M356L|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							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)										CAGTGCAGAGATGTCATGTCA	0.468																																					p.M356L		.											.	.	.	0			c.A1066T						.						107	110	109					2																	174085956		2203	4300	6503	SO:0001627	intron_variant	0	exon12			GCAGAGATGTCAT																												ENST00000375213.3:c.987+3978A>T	2.37:g.174085956A>T		43	0		28	5	NM_133646	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663440	0.47572	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;T	0.77489	-0.72;-0.72;-1.1	6.08	4.9	0.64082	.	.	.	.	.	T	0.61173	0.2326	N	0.14661	0.345	0.27608	N	0.94875	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43972	-0.9358	9	0.13108	T	0.6	.	12.5561	0.56254	0.8752:0.0:0.0:0.1248	.	356;356	A8K710;D4Q8H0	.;.	L	356;356;255	ENSP00000439414:M356L;ENSP00000340257:M356L;ENSP00000399787:M255L	ENSP00000340257:M356L	M	+	1	0	AC013461.1	173794202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.789000	0.62446	1.082000	0.41137	0.533000	0.62120	ATG	.		0.468	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			T	174085956	A	T	174085956	1	4	5	0	1	0	0	0	0	0	0	0	17561	333	12	5		5	ZAK	2	174085956	Intron	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	3305518	174085956	69113417	24	567											
TTN	7273	hgsc.bcm.edu	37	2	179569097	179569097	+	Silent	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:179569097C>T	ENST00000591111.1	-	104	29273	c.29049G>A	c.(29047-29049)ctG>ctA	p.L9683L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.L10000L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.L8756L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13761	Ig-like 78.				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)			GGCCTTCTTTCAGAGTCACAT	0.428																																					p.L10000L		.											TTN_ENST00000342992,NS,carcinoma,0,1	TTN_ENST00000342992	0	0			c.G30000A						.						185	177	180					2																	179569097		1973	4171	6144	SO:0001819	synonymous_variant	7273	exon106			TTCTTTCAGAGTC	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.29049G>A	2.37:g.179569097C>T		36	0		48	2	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																																																																																				.		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179569097	C	T	179569097	2	4	5	1	0	0	0	0	0	0	0	1	16784	813	29	3		3	TTN	2	179569097	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	5483141	179569097	63630276	25	568											
PLCL1	5334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	198950711	198950711	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:198950711C>T	ENST00000428675.1	+	2	2868	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R726W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	824					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)	GCCTGGATATCGGCATGTTCC	0.453																																					p.R824W		.											.	.	.	0			c.C2470T						.						208	183	192					2																	198950711		2203	4300	6503	SO:0001583	missense	5334	exon2			GGATATCGGCATG	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.2470C>T	2.37:g.198950711C>T	ENSP00000402861:p.Arg824Trp	87	0		67	14	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698517	0.48307	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.16597	2.33;2.33	5.5	4.6	0.57074	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.099179	0.43416	D	0.000565	T	0.43656	0.1257	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.44375	-0.9332	9	.	.	.	.	12.3071	0.54908	0.4667:0.5333:0.0:0.0	.	824;750	Q15111;B4DYZ4	PLCL1_HUMAN;.	W	824;726	ENSP00000402861:R824W;ENSP00000414138:R726W	.	R	+	1	2	PLCL1	198658956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.053000	0.49901	1.514000	0.48869	0.655000	0.94253	CGG	.		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		T	198950711	C	T	198950711	3	4	5	1	0	0	0	0	1	0	0	0	12078	875	31	1	2476	1	PLCL1	2	198950711	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	19381614	198950711	44248662	26	569											
CPS1	1373	hgsc.bcm.edu	37	2	211464283	211464283	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:211464283G>T	ENST00000233072.5	+	14	1743	c.1547G>T	c.(1546-1548)tGt>tTt	p.C516F	CPS1_ENST00000430249.2_Missense_Mutation_p.C522F|CPS1_ENST00000451903.2_Missense_Mutation_p.C65F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	516					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)	GCTCTGAACTGTGGTGAGTTC	0.428																																					p.C522F		.											CPS1,NS,carcinoma,0,1	CPS1	0	0			c.G1565T						.						107	110	109					2																	211464283		2202	4300	6502	SO:0001583	missense	1373	exon15			TGAACTGTGGTGA	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.1547G>T	2.37:g.211464283G>T	ENSP00000233072:p.Cys516Phe	40	0		42	2	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065416	0.76187	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97352	-4.35;-4.35;-4.35	5.17	5.17	0.71159	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	0.98858	0.9614	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99647	1.0990	10	0.87932	D	0	-13.3357	19.03	0.92952	0.0:0.0:1.0:0.0	.	526;516	Q59HF8;P31327	.;CPSM_HUMAN	F	522;524;516;65	ENSP00000402608:C522F;ENSP00000233072:C516F;ENSP00000406136:C65F	ENSP00000233072:C516F	C	+	2	0	CPS1	211172528	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.307000	0.96226	2.579000	0.87056	0.455000	0.32223	TGT	.		0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211464283	G	T	211464283	3	4	5	1	0	0	0	0	1	0	0	0	3830	1377	48	3	1623	3	CPS1	2	211464283	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	12513572	211464283	31735090	27	570											
DOCK10	55619	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	225704784	225704784	+	Missense_Mutation	SNP	T	T	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr2:225704784T>A	ENST00000258390.7	-	24	2734	c.2667A>T	c.(2665-2667)ttA>ttT	p.L889F	DOCK10_ENST00000409592.3_Missense_Mutation_p.L883F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	889					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)		CCACATTCAATAAGTTCTGTA	0.313																																					p.L889F		.											.	.	.	0			c.A2667T						.						44	39	41					2																	225704784		1787	4046	5833	SO:0001583	missense	55619	exon24			ATTCAATAAGTTC	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.2667A>T	2.37:g.225704784T>A	ENSP00000258390:p.Leu889Phe	67	0		73	6	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.227298	0.39399	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.70399	1.69;-0.48	5.73	1.66	0.24008	.	0.000000	0.64402	D	0.000006	T	0.75774	0.3895	L	0.58669	1.825	0.33934	D	0.642436	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	T	0.77175	-0.2684	10	0.87932	D	0	.	3.7397	0.08524	0.1844:0.4514:0.0:0.3642	.	889;883	Q96BY6;B3FL70	DOC10_HUMAN;.	F	883;889	ENSP00000386694:L883F;ENSP00000258390:L889F	ENSP00000258390:L889F	L	-	3	2	DOCK10	225413028	0.065000	0.20965	0.198000	0.23420	0.261000	0.26267	0.280000	0.18790	0.329000	0.23460	0.533000	0.62120	TTA	.		0.313	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			A	225704784	T	A	225704784	3	1	5	1	0	0	0	0	1	0	0	0	4699	1403	49	5	4025	5	DOCK10	2	225704784	Missense_Mutation	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09	14240501	225704784	17494589	28	571											
ITGA9	3680	hgsc.bcm.edu	37	3	37670693	37670693	+	Missense_Mutation	SNP	G	G	A	rs369282174		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:37670693G>A	ENST00000264741.5	+	16	1961	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I	ITGA9_ENST00000422441.1_Missense_Mutation_p.V569I	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	569					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)		GGTGCAGGACGTCATCAGCCC	0.507																																					p.V569I		.											ITGA9,NS,carcinoma,0,1	ITGA9	0	0			c.G1705A						.	G	ILE/VAL	0,4406		0,0,2203	127	119	121		1705	5.2	1	3		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA9	NM_002207.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	569/1036	37670693	1,13005	2203	4300	6503	SO:0001583	missense	3680	exon16			CAGGACGTCATCA	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.1705G>A	3.37:g.37670693G>A	ENSP00000264741:p.Val569Ile	45	0		40	2	NM_002207	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166928	0.38217	0.0	1.16E-4	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.43688	0.94;0.94	5.17	5.17	0.71159	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	N	0.25060	0.705	0.58432	D	0.999999	B;B	0.31730	0.337;0.165	B;B	0.31495	0.131;0.044	T	0.08452	-1.0721	10	0.05620	T	0.96	.	17.4652	0.87630	0.0:0.0:1.0:0.0	.	569;569	Q13797;E9PDS3	ITA9_HUMAN;.	I	569	ENSP00000397258:V569I;ENSP00000264741:V569I	ENSP00000264741:V569I	V	+	1	0	ITGA9	37645697	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.479000	0.81095	2.403000	0.81681	0.655000	0.94253	GTC	.		0.507	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		A	37670693	G	A	37670693	3	1	5	1	0	0	0	0	1	0	0	0	7910	1145	40	1	1767	1	ITGA9	3	37670693	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		37670693	160351737	29	572											
TRAK1	22906	hgsc.bcm.edu	37	3	42260987	42260987	+	Splice_Site	SNP	G	G	A	rs545460609		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:42260987G>A	ENST00000327628.5	+	15	2365	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	TRAK1_ENST00000487159.1_3'UTR|RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000396175.1_Splice_Site_p.A597A	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	655					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						CCAATTTAGCGCACCATCCTG	0.463													G|||	1	0.000199681	8e-04	0	5008	,	,		16610	0		0	False		,,,				2504	0				p.A655A	GBM(44;195 884 22595 31865 41850)	.											TRAK1_ENST00000543338,lower_third,carcinoma,0,2	TRAK1_ENST00000543338	0	0			c.G1965A						.						245	238	240					3																	42260987		2071	4210	6281	SO:0001630	splice_region_variant	22906	exon15			TTTAGCGCACCAT		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.1964-1G>A	3.37:g.42260987G>A		58	0		43	2	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	CCDS43072.1																																																																																			.		0.463	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	Silent	A	42260987	G	A	42260987	5	1	5	1	0	0	0	0	0	0	1	0	16497	1101	38	1	2411	1	TRAK1	3	42260987	Splice_Site	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	4590294	42260987	155761443	30	573											
BAP1	8314	broad.mit.edu	37	3	52436651	52436667	+	Frame_Shift_Del	DEL	TGAACTCATCGTAGTTG	TGAACTCATCGTAGTTG	-	rs200194082|rs144881611		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:52436651_52436667delTGAACTCATCGTAGTTG	ENST00000460680.1	-	16	2478_2494	c.2007_2023delCAACTACGATGAGTTCA	c.(2005-2025)cacaactacgatgagttcatcfs	p.NYDEFI670fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.NYDEFI652fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D672G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTC	0.562			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.669_675del	GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1	371	1	Substitution - Missense(1)	eye(1)	c.2007_2023del						.																																			SO:0001589	frameshift_variant	8314	exon16			TGCAGATGAACTC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2007_2023delCAACTACGATGAGTTCA	3.37:g.52436651_52436667delTGAACTCATCGTAGTTG	ENSP00000417132:p.Asn670fs	12	0		9	4	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.562	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52436667	TGAACTCATCGTAGTTG	-	52436651	7	5	5	1	0	1	0	1	0	0	0	0	1312	1464	51	0	174	0	BAP1	3	52436651	Frame_Shift_Del	DEL	TGAACTCATCGTAGTTG	TCGA-3X-AAVE-01A-11D-A417-09	10175664	52436651	145585779	31	574											
CACNA1D	776	hgsc.bcm.edu	37	3	53810928	53810928	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:53810928G>A	ENST00000350061.5	+	37	5043	c.4532G>A	c.(4531-4533)cGc>cAc	p.R1511H	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1496H|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1531H|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R403H	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1511					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)	CTGCTTCGACGCATCCAGCCT	0.517																																					p.R1531H		.											CACNA1D_ENST00000350061,NS,carcinoma,0,2	CACNA1D_ENST00000350061	0	0			c.G4592A						.						147	120	129					3																	53810928		2203	4300	6503	SO:0001583	missense	776	exon38			TTCGACGCATCCA	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.4532G>A	3.37:g.53810928G>A	ENSP00000288133:p.Arg1511His	77	0		72	3	NM_000720	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778025	0.90195	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;T;T	0.96365	-3.96;-3.99;-3.98;2.93;2.93	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.96926	0.8996	L	0.35249	1.045	0.80722	D	1	D;B;D;P;D	0.89917	1.0;0.321;0.972;0.945;1.0	D;B;B;B;D	0.83275	0.985;0.073;0.286;0.286;0.996	D	0.97814	1.0252	10	0.66056	D	0.02	.	19.2391	0.93875	0.0:0.0:1.0:0.0	.	1496;403;1204;1511;1531	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	H	1511;1531;1496;1204;403	ENSP00000288133:R1511H;ENSP00000288139:R1531H;ENSP00000409174:R1496H;ENSP00000418014:R1204H;ENSP00000438229:R403H	ENSP00000288139:R1531H	R	+	2	0	CACNA1D	53785968	1.000000	0.71417	0.847000	0.33407	0.976000	0.68499	9.869000	0.99810	2.539000	0.85634	0.563000	0.77884	CGC	.		0.517	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		A	53810928	G	A	53810928	3	1	5	1	0	0	0	0	1	0	0	0	2548	1087	38	1	4850	1	CACNA1D	3	53810928	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	1374277	53810928	144211502	32	575											
C3orf63	285331	hgsc.bcm.edu	37	3	56658514	56658514	+	IGR	SNP	C	C	T	rs150032629		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:56658514C>T	ENST00000394672.3	+	0	3096				FAM208A_ENST00000493960.2_Silent_p.S1492S|FAM208A_ENST00000355628.5_Silent_p.S1431S|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000431842.2_Silent_p.S1055S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						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)		TACCTGACTGCGACTCAAGAT	0.363													C|||	1	0.000199681	0	0	5008	,	,		19196	0		0	False		,,,				2504	0.001				p.S1492S		.											FAM208A,NS,carcinoma,0,4	FAM208A	0	0			c.G4476A						.	C	,	1,4405	2.1+/-5.4	0,1,2202	131	125	127		4476,3165	-10.6	0.1	3	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FAM208A	NM_001112736.1,NM_015224.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1492/1513,1055/1234	56658514	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	23272	exon23			TGACTGCGACTCA	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		3.37:g.56658514C>T		92	0		73	3	NM_001112736	B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	CCDS46852.1																																																																																			0.000		0.363	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		T	56658514	C	T	56658514	1	4	5	0	1	0	0	0	0	0	0	0	2246	755	27	1		1	C3orf63	3	56658514	IGR	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	2847586	56658514	141363916	33	576											
KBTBD8	84541	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	67054577	67054577	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:67054577G>A	ENST00000417314.2	+	3	1235	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	KBTBD8_ENST00000295568.4_Missense_Mutation_p.G370R|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	396						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTATGCAATCGGAGGTCGTGT	0.443																																					p.G396R													.	KBTBD8	101	0			c.G1186A						.						179	171	173					3																	67054577		2203	4300	6503	SO:0001583	missense	84541	exon3			GCAATCGGAGGTC	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1186G>A	3.37:g.67054577G>A	ENSP00000401878:p.Gly396Arg	72	1		38	13	NM_032505	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525168	0.85600	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	D;D	0.98777	-5.13;-5.13	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.96333	3.805	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	D	0.98567	1.0644	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	396	Q8NFY9	KBTB8_HUMAN	R	370;396	ENSP00000295568:G370R;ENSP00000401878:G396R	.	G	+	1	0	KBTBD8	67137267	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.813000	0.99286	2.676000	0.91093	0.557000	0.71058	GGA	.		0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		A	67054577	G	A	67054577	3	1	5	1	0	0	0	0	1	0	0	0	8026	1117	39	1	1196	1	KBTBD8	3	67054577	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	10396063	67054577	130967853	34	577											
SLC9A10	285335	broad.mit.edu	37	3	111985124	111985124	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:111985124G>T	ENST00000305815.5	-	8	1091	c.839C>A	c.(838-840)aCa>aAa	p.T280K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.T280K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	280					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)										TTTAAAACTTGTAGAATTTAA	0.274																																					p.T280K													.	.	.	0			c.C839A						.						65	73	70					3																	111985124		2202	4295	6497	SO:0001583	missense	285335	exon8			AAACTTGTAGAAT	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.839C>A	3.37:g.111985124G>T	ENSP00000306627:p.Thr280Lys	370	2		304	5	NM_183061	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929495	0.52759	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.12984	2.63;2.63	5.04	5.04	0.67666	Cation/H+ exchanger (1);	0.105838	0.42294	D	0.000740	T	0.29458	0.0734	L	0.55481	1.735	0.35360	D	0.78812	P;D	0.71674	0.935;0.998	P;D	0.66979	0.704;0.948	T	0.15983	-1.0418	10	0.29301	T	0.29	-15.4206	14.2567	0.66058	0.0:0.0:1.0:0.0	.	280;280	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	K	280	ENSP00000306627:T280K;ENSP00000420688:T280K	ENSP00000306627:T280K	T	-	2	0	SLC9A10	113467814	1.000000	0.71417	0.998000	0.56505	0.261000	0.26267	2.322000	0.43814	2.497000	0.84241	0.603000	0.83216	ACA	.		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111985124	G	T	111985124	3	4	5	1	0	0	0	0	1	0	0	0	14755	1377	48	3	2782	3	SLC9A10	3	111985124	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	44930547	111985124	86037306	35	578											
LRRC15	131578	hgsc.bcm.edu;broad.mit.edu	37	3	194080098	194080098	+	Missense_Mutation	SNP	C	C	T	rs372437949		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr3:194080098C>T	ENST00000347624.3	-	2	1760	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	LRRC15_ENST00000428839.1_Missense_Mutation_p.V565I|LRRC15_ENST00000439944.2_Missense_Mutation_p.V565I	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	559					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)		CAACAGCCGACGCAGGCAGCC	0.612																																					p.V565I		.											LRRC15_ENST00000439944,NS,carcinoma,0,2	LRRC15_ENST00000439944	0	0			c.G1693A						.	T	ILE/VAL,ILE/VAL	1,4405	825.9+/-416.6	0,1,2202	63	62	62		1675,1693	5.5	1	3		62	0,8600		0,0,4300	no	missense,missense	LRRC15	NM_130830.4,NM_001135057.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	559/582,565/588	194080098	1,13005	2203	4300	6503	SO:0001583	missense	131578	exon3			AGCCGACGCAGGC	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.1675G>A	3.37:g.194080098C>T	ENSP00000306276:p.Val559Ile	20	0		18	3	NM_001135057	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	T	0.366	-0.936920	0.02340	2.27E-4	0.0	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.55760	0.5;0.54;0.54	5.48	5.48	0.80851	.	0.506040	0.19366	N	0.116030	T	0.25644	0.0624	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18023	-1.0350	10	0.02654	T	1	.	11.7362	0.51767	0.0:0.069:0.0:0.931	.	559;565	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	I	559;565;565	ENSP00000306276:V559I;ENSP00000389128:V565I;ENSP00000413707:V565I	ENSP00000306276:V559I	V	-	1	0	LRRC15	195561393	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	1.401000	0.34589	1.039000	0.40074	-0.360000	0.07572	GTC	.		0.612	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			T	194080098	C	T	194080098	3	4	5	1	0	0	0	0	1	0	0	0	9005	536	19	1	74	1	LRRC15	3	194080098	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	82094974	194080098	3942332	36	579											
KCNIP4	80333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	20736336	20736336	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr4:20736336A>G	ENST00000382152.2	-	6	619	c.452T>C	c.(451-453)aTt>aCt	p.I151T	KCNIP4_ENST00000382150.4_Missense_Mutation_p.I130T|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.I117T|KCNIP4_ENST00000359001.5_Missense_Mutation_p.I89T|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.I89T|KCNIP4_ENST00000382148.3_Missense_Mutation_p.I126T	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	151	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CCGGAGCAAAATGGAAAGACC	0.303																																					p.I131T		.											.	.	.	0			c.T392C						.						118	124	122					4																	20736336		2203	4300	6503	SO:0001583	missense	80333	exon5			AGCAAAATGGAAA	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.452T>C	4.37:g.20736336A>G	ENSP00000371587:p.Ile151Thr	100	0		102	24	NM_025221	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.453599	0.43531	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	6.03	6.03	0.97812	EF-hand-like domain (1);	0.134279	0.64402	D	0.000003	T	0.54902	0.1887	N	0.24115	0.695	0.48185	D	0.999608	B;B;B;B	0.29886	0.024;0.01;0.01;0.26	B;B;B;B	0.34991	0.127;0.087;0.127;0.193	T	0.57406	-0.7817	10	0.54805	T	0.06	.	10.6094	0.45412	0.9281:0.0:0.0719:0.0	.	126;130;134;151	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	T	126;117;130;89;151;89;89	ENSP00000371583:I126T;ENSP00000399080:I117T;ENSP00000371585:I130T;ENSP00000371587:I151T;ENSP00000423257:I89T;ENSP00000351892:I89T	ENSP00000351892:I89T	I	-	2	0	KCNIP4	20345434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.570000	0.82390	2.319000	0.78375	0.524000	0.50904	ATT	.		0.303	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		G	20736336	A	G	20736336	3	3	5	1	0	0	0	0	1	0	0	0	8069	101	4	4	316	4	KCNIP4	4	20736336	Missense_Mutation	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09		20736336	170417940	37	580											
ARHGAP24	83478	hgsc.bcm.edu	37	4	86921760	86921760	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr4:86921760C>T	ENST00000395184.1	+	10	2598	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	RP13-514E23.2_ENST00000610225.1_RNA|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.A618V|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.A616V	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	711					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAAGAAGATGCCGAGAAAAGA	0.423																																					p.A711V		.											.	.	.	0			c.C2132T						.						78	81	80					4																	86921760		2203	4300	6503	SO:0001583	missense	83478	exon10			AAGATGCCGAGAA	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.2132C>T	4.37:g.86921760C>T	ENSP00000378611:p.Ala711Val	103	0		81	3	NM_001025616	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421777	0.96111	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000264343	T;T;T	0.31769	1.48;1.48;1.48	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.994	T	0.37686	-0.9695	10	0.40728	T	0.16	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	616;618;711	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	V	711;616;618	ENSP00000378611:A711V;ENSP00000378610:A616V;ENSP00000264343:A618V	ENSP00000264343:A618V	A	+	2	0	ARHGAP24	87140784	1.000000	0.71417	0.970000	0.41538	0.886000	0.51366	7.744000	0.85034	2.882000	0.98803	0.655000	0.94253	GCC	.		0.423	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		T	86921760	C	T	86921760	3	4	5	1	0	0	0	0	1	0	0	0	873	739	26	3	2282	3	ARHGAP24	4	86921760	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	66185424	86921760	104232516	38	581											
TMEM184C	55751	bcgsc.ca	37	4	148539206	148539206	+	Silent	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr4:148539206C>T	ENST00000296582.3	+	1	673	c.99C>T	c.(97-99)tgC>tgT	p.C33C	TMEM184C_ENST00000508208.1_Silent_p.C33C|RP11-425A23.1_ENST00000508072.1_RNA	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	33						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTCCCCTATGCGTGTGGGAAT	0.502											OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C33C													.	TMEM184C	25	0			c.C99T						.						257	226	237					4																	148539206		2203	4300	6503	SO:0001819	synonymous_variant	55751	exon1			CCTATGCGTGTGG	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.99C>T	4.37:g.148539206C>T		94	0	1718	67	4	NM_018241	D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	37	CCDS3770.1																																																																																			.		0.502	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		T	148539206	C	T	148539206	2	4	5	1	0	0	0	0	0	0	0	1	16153	776	27	1		1	TMEM184C	4	148539206	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	61617446	148539206	42615070	39	582											
STOX2	56977	hgsc.bcm.edu	37	4	184932087	184932087	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr4:184932087G>T	ENST00000308497.4	+	3	3531	c.2096G>T	c.(2095-2097)aGc>aTc	p.S699I	STOX2_ENST00000438269.1_Missense_Mutation_p.S699I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	699					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.S699I(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GAGATATTTAGCAAAGACACA	0.542																																					p.S699I		.											STOX2_ENST00000308497,colon,carcinoma,0,1	STOX2_ENST00000308497	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2096T						.						34	39	37					4																	184932087		2017	4174	6191	SO:0001583	missense	56977	exon3			TATTTAGCAAAGA	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2096G>T	4.37:g.184932087G>T	ENSP00000311257:p.Ser699Ile	45	0		49	2	NM_020225	A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938048	0.73557	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.83755	-0.77;-1.76	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.986	D	0.88557	0.3120	10	0.87932	D	0	-25.2765	18.987	0.92775	0.0:0.0:1.0:0.0	.	699;699	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	I	699	ENSP00000311257:S699I;ENSP00000390127:S699I	ENSP00000311257:S699I	S	+	2	0	STOX2	185169081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.936000	0.92931	2.725000	0.93324	0.655000	0.94253	AGC	.		0.542	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		T	184932087	G	T	184932087	3	4	5	1	0	0	0	0	1	0	0	0	15367	971	34	3	2106	3	STOX2	4	184932087	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	36392881	184932087	6222189	40	583											
DNAH5	1767	bcgsc.ca	37	5	13830277	13830277	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr5:13830277C>T	ENST00000265104.4	-	37	6211	c.6107G>A	c.(6106-6108)cGt>cAt	p.R2036H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2036	AAA 1. {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)					TAGATCAATACGGTTAAATTC	0.353									Kartagener syndrome																												p.R2036H													DNAH5,colon,carcinoma,-1,1	DNAH5	868	0			c.G6107A						.						81	80	80					5																	13830277		2203	4300	6503	SO:0001583	missense	1767	exon37	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TCAATACGGTTAA	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.6107G>A	5.37:g.13830277C>T	ENSP00000265104:p.Arg2036His	39	0		64	4	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301820	0.95601	.	.	ENSG00000039139	ENST00000265104	T	0.15017	2.46	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75852	-0.3171	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2036	Q8TE73	DYH5_HUMAN	H	2036	ENSP00000265104:R2036H	ENSP00000265104:R2036H	R	-	2	0	DNAH5	13883277	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGT	.		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13830277	C	T	13830277	3	4	5	1	0	0	0	0	1	0	0	0	4618	536	19	1	7939	1	DNAH5	5	13830277	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09		13830277	167084983	41	584											
NIPBL	25836	hgsc.bcm.edu;bcgsc.ca	37	5	37007576	37007576	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr5:37007576G>T	ENST00000282516.8	+	18	4738	c.4239G>T	c.(4237-4239)caG>caT	p.Q1413H	NIPBL_ENST00000448238.2_Splice_Site_p.Q1413H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1413					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)			CAATTCTTCAGGTAAGATTTT	0.299																																					p.Q1413H		.											.	.	.	0			c.G4239T						.						40	40	40					5																	37007576		2198	4293	6491	SO:0001630	splice_region_variant	25836	exon18			TCTTCAGGTAAGA	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.4239+1G>T	5.37:g.37007576G>T		59	0		70	4	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801473	0.50315	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93859	-3.3;-3.3	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	L	0.45137	1.4	0.58432	D	0.999998	B;B	0.16802	0.011;0.019	B;B	0.15052	0.012;0.008	D	0.86103	0.1557	10	0.23891	T	0.37	.	17.1344	0.86735	0.0:0.0:1.0:0.0	.	1413;1413	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1413	ENSP00000282516:Q1413H;ENSP00000406266:Q1413H	ENSP00000282516:Q1413H	Q	+	3	2	NIPBL	37043333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.658000	0.83755	2.495000	0.84180	0.650000	0.86243	CAG	.		0.299	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Missense_Mutation	T	37007576	G	T	37007576	5	4	5	1	0	0	0	0	0	0	1	0	10467	1014	35	3	4305	3	NIPBL	5	37007576	Splice_Site	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	23177299	37007576	143907684	42	585											
SV2C	22987	hgsc.bcm.edu	37	5	75428097	75428097	+	Silent	SNP	C	C	T	rs370011561	byFrequency	TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr5:75428097C>T	ENST00000502798.2	+	2	964	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SV2C_ENST00000322285.7_Silent_p.F174F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	174					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.F174F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCGTTGGCTTCGTGTTACCCA	0.517													C|||	3	0.000599042	0.0015	0	5008	,	,		16619	0		0.001	False		,,,				2504	0				p.F174F		.											SV2C,NS,adenocarcinoma,0,3	SV2C	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T						.	C		3,4115		0,3,2056	182	170	174		522	-1.7	1	5		174	0,8422		0,0,4211	no	coding-synonymous	SV2C	NM_014979.1		0,3,6267	TT,TC,CC		0.0,0.0729,0.0239		174/728	75428097	3,12537	2059	4211	6270	SO:0001819	synonymous_variant	22987	exon2			TGGCTTCGTGTTA	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.522C>T	5.37:g.75428097C>T		39	0		48	2	NM_014979	Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	CCDS43331.1																																																																																			.		0.517	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			T	75428097	C	T	75428097	2	4	5	1	0	0	0	0	0	0	0	1	15466	883	31	1		1	SV2C	5	75428097	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	38420521	75428097	105487163	43	586											
SLC36A1	206358	bcgsc.ca	37	5	150853233	150853233	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr5:150853233G>T	ENST00000243389.3	+	8	946		c.e8-1		SLC36A1_ENST00000520701.1_Splice_Site|SLC36A1_ENST00000521925.1_Splice_Site	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CTGTCTTTCAGAGGATCCCAG	0.443																																					.	Melanoma(151;1534 1860 12947 32979 37872)												.	SLC36A1	50	0			c.724-1G>T						.						166	182	177					5																	150853233		2203	4300	6503	SO:0001630	splice_region_variant	206358	exon8			CTTTCAGAGGATC	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.724-1G>T	5.37:g.150853233G>T		48	0		49	4	NM_078483	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Splice_Site	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588113	0.66105	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6685	0.91501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC36A1	150833426	1.000000	0.71417	0.931000	0.37212	0.906000	0.53458	9.091000	0.94151	2.488000	0.83962	0.655000	0.94253	.	.		0.443	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483	Intron	T	150853233	G	T	150853233	5	4	5	1	0	0	0	0	0	0	1	0	14638	956	33	3	749	3	SLC36A1	5	150853233	Splice_Site	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	75425136	150853233	30062027	44	587											
C5orf4	10826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	154202045	154202045	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr5:154202045G>A	ENST00000326080.5	-	7	1088	c.665C>T	c.(664-666)cCt>cTt	p.P222L	FAXDC2_ENST00000517938.1_Missense_Mutation_p.P199L|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	222					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										ATGCTCTATAGGGTGGGCATA	0.522																																					p.P222L		.											.	.	.	0			c.C665T						.						249	233	238					5																	154202045		1946	4144	6090	SO:0001583	missense	10826	exon7			TCTATAGGGTGGG	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"Fatty acid hydroxylase domain containing"	1334	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 4"	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.665C>T	5.37:g.154202045G>A	ENSP00000320604:p.Pro222Leu	75	0		76	21	NM_032385	B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661566	0.67700	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	D;D	0.85955	-2.05;-2.05	5.27	5.27	0.74061	Fatty acid hydroxylase (1);	0.097389	0.64402	D	0.000001	D	0.94611	0.8263	H	0.94542	3.55	0.80722	D	1	D	0.61080	0.989	D	0.72625	0.978	D	0.95947	0.8951	10	0.87932	D	0	.	17.8919	0.88875	0.0:0.0:1.0:0.0	.	222	Q96IV6	CE004_HUMAN	L	222;199	ENSP00000320604:P222L;ENSP00000430286:P199L	ENSP00000320604:P222L	P	-	2	0	C5orf4	154182238	1.000000	0.71417	0.586000	0.28679	0.124000	0.20399	9.407000	0.97325	2.460000	0.83146	0.555000	0.69702	CCT	.		0.522	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		A	154202045	G	A	154202045	3	1	5	1	0	0	0	0	1	0	0	0	2305	1000	35	3	348	3	C5orf4	5	154202045	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	3348812	154202045	26713215	45	588											
KCNMB1	3779	hgsc.bcm.edu	37	5	169805956	169805956	+	Missense_Mutation	SNP	C	C	T	rs2301149	byFrequency	TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr5:169805956C>T	ENST00000274629.4	-	4	770	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_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																																					p.E110K		.											KCNMB1,NS,carcinoma,0,1	KCNMB1	0	0			c.G328A						.						62	64	63					5																	169805956		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>A	5.37:g.169805956C>T	ENSP00000274629:p.Val110Met	53	0		59	3	NM_004137	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201474	0.58234	.	.	ENSG00000145936	ENST00000274629	T	0.09445	2.98	5.17	3.03	0.35002	.	0.407302	0.25175	N	0.032575	T	0.04452	0.0122	N	0.08118	0	0.09310	P	0.99999999356255	B	0.18610	0.029	B	0.09377	0.004	T	0.30650	-0.9971	8	.	.	.	.	6.0615	0.19841	0.184:0.2949:0.5211:0.0	.	110	Q16558	KCMB1_HUMAN	M	110	ENSP00000274629:V110M	.	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	.		0.547	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			T	169805956	C	T	169805956	3	4	5	1	0	0	0	0	1	0	0	0	8101	536	19	1	251	1	KCNMB1	5	169805956	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	15603911	169805956	11109304	46	589											
BTN2A2	10385	ucsc.edu	37	6	26393052	26393052	+	Missense_Mutation	SNP	A	A	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr6:26393052A>T	ENST00000356709.4	+	8	1540	c.1429A>T	c.(1429-1431)Act>Tct	p.T477S	BTN2A2_ENST00000482536.1_Missense_Mutation_p.T267S|BTN2A2_ENST00000352867.2_Missense_Mutation_p.T361S|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.T477S|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	477	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						TTCAGCCTTTACTGTGCCTGT	0.552																																					p.T477S													.	BTN2A2	87	0			c.A1429T						.						132	114	120					6																	26393052		2203	4300	6503	SO:0001583	missense	10385	exon8			GCCTTTACTGTGC	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.1429A>T	6.37:g.26393052A>T	ENSP00000349143:p.Thr477Ser	26	2		41	8	NM_006995	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.845525	0.00568	.	.	ENSG00000124508	ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	3.63	-7.27	0.01461	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.471490	0.04092	N	0.311434	T	0.07324	0.0185	N	0.04148	-0.265	0.21652	N	0.999607	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.03463	-1.1034	10	0.02654	T	1	.	5.6901	0.17825	0.5157:0.0:0.2603:0.224	.	267;361;477	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	S	477;361;267;477	ENSP00000349143:T477S;ENSP00000337117:T361S;ENSP00000419451:T267S;ENSP00000399308:T477S	ENSP00000337117:T361S	T	+	1	0	BTN2A2	26501031	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.420000	0.07062	-1.474000	0.01879	-0.589000	0.04120	ACT	.		0.552	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			T	26393052	A	T	26393052	3	4	5	1	0	0	0	0	1	0	0	0	1565	391	14	5	1455	5	BTN2A2	6	26393052	Missense_Mutation	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09		26393052	144722015	47	590	1	2									
BTN2A2	10385	ucsc.edu	37	6	26393054	26393054	+	Silent	SNP	T	T	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr6:26393054T>C	ENST00000356709.4	+	8	1542	c.1431T>C	c.(1429-1431)acT>acC	p.T477T	BTN2A2_ENST00000482536.1_Silent_p.T267T|BTN2A2_ENST00000352867.2_Silent_p.T361T|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.T477T|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	477	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						CAGCCTTTACTGTGCCTGTGA	0.562																																					p.T477T													.	BTN2A2	87	0			c.T1431C						.						132	114	120					6																	26393054		2203	4300	6503	SO:0001819	synonymous_variant	10385	exon8			CTTTACTGTGCCT	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.1431T>C	6.37:g.26393054T>C		26	2		40	8	NM_006995	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	37	CCDS4606.1																																																																																			.		0.562	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			C	26393054	T	C	26393054	2	2	5	1	0	0	0	0	0	0	0	1	1565	1567	55	4		4	BTN2A2	6	26393054	Silent	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09	2	26393054	144722013	48	591	1	2									
EHMT2	10919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	31855598	31855598	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr6:31855598C>T	ENST00000375537.4	-	14	1892	c.1886G>A	c.(1885-1887)cGg>cAg	p.R629Q	EHMT2_ENST00000375530.4_Missense_Mutation_p.R595Q|EHMT2_ENST00000395728.3_Missense_Mutation_p.R686Q|EHMT2_ENST00000375528.4_Missense_Mutation_p.R652Q|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	629					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						CAGGGCCTCCCGGCCTGGCCC	0.662																																					p.R629Q		.											.	.	.	0			c.G1886A						.						85	105	98					6																	31855598		1509	2706	4215	SO:0001583	missense	10919	exon14			GCCTCCCGGCCTG	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.1886G>A	6.37:g.31855598C>T	ENSP00000364687:p.Arg629Gln	32	0		22	6	NM_006709	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679728	0.68042	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70986	-0.53;-0.43;-0.37;-0.52	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	N	0.24115	0.695	0.52501	D	0.999951	P;P;P;P	0.50710	0.898;0.938;0.627;0.791	B;B;B;B	0.41466	0.195;0.358;0.139;0.195	T	0.58205	-0.7677	10	0.49607	T	0.09	.	17.9856	0.89155	0.0:1.0:0.0:0.0	.	652;595;629;443	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	Q	686;652;595;629;443	ENSP00000379078:R686Q;ENSP00000364678:R652Q;ENSP00000364680:R595Q;ENSP00000364687:R629Q	ENSP00000364678:R652Q	R	-	2	0	EHMT2	31963577	0.985000	0.35326	1.000000	0.80357	0.991000	0.79684	2.615000	0.46368	2.534000	0.85438	0.585000	0.79938	CGG	.		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		T	31855598	C	T	31855598	3	4	5	1	0	0	0	0	1	0	0	0	4998	652	23	1	1806	1	EHMT2	6	31855598	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	5462544	31855598	139259469	49	592											
PHF3	23469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	64394977	64394977	+	Missense_Mutation	SNP	A	A	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr6:64394977A>C	ENST00000262043.3	+	4	1694	c.1354A>C	c.(1354-1356)Aat>Cat	p.N452H	PHF3_ENST00000393387.1_Missense_Mutation_p.N452H|PHF3_ENST00000509330.1_Missense_Mutation_p.N452H			Q92576	PHF3_HUMAN	PHD finger protein 3	452					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAACAGTTGAATGCTATAGA	0.368																																					p.N452H	GBM(135;136 1820 29512 34071 46235)	.											.	.	.	0			c.A1354C						.						71	78	75					6																	64394977		2202	4299	6501	SO:0001583	missense	23469	exon3			CAGTTGAATGCTA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1354A>C	6.37:g.64394977A>C	ENSP00000262043:p.Asn452His	78	0		73	18	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	0.133	-1.111774	0.01813	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.45276	2.18;1.89;2.22;1.9;0.9;2.22	3.75	0.101	0.14517	.	0.387176	0.18855	N	0.129281	T	0.27169	0.0666	L	0.57536	1.79	0.09310	N	1	P;P	0.50528	0.61;0.936	B;P	0.50490	0.205;0.642	T	0.10636	-1.0621	10	0.66056	D	0.02	.	7.1172	0.25423	0.7048:0.0:0.2952:0.0	.	452;452	Q92576;D6R9X2	PHF3_HUMAN;.	H	266;364;452;405;452;452	ENSP00000424694:N266H;ENSP00000425227:N364H;ENSP00000262043:N452H;ENSP00000424078:N405H;ENSP00000422841:N452H;ENSP00000377048:N452H	ENSP00000262043:N452H	N	+	1	0	PHF3	64452936	1.000000	0.71417	0.004000	0.12327	0.079000	0.17450	2.059000	0.41384	0.030000	0.15379	-0.462000	0.05337	AAT	.		0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			C	64394977	A	C	64394977	3	2	5	1	0	0	0	0	1	0	0	0	11875	246	9	4	1364	4	PHF3	6	64394977	Missense_Mutation	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	32539379	64394977	106720090	50	593											
ARID1B	57492	hgsc.bcm.edu	37	6	157469954	157469954	+	Missense_Mutation	SNP	G	G	T	rs146077641		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr6:157469954G>T	ENST00000350026.5	+	8	2710	c.2709G>T	c.(2707-2709)atG>atT	p.M903I	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.M903I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M845I|ARID1B_ENST00000346085.5_Missense_Mutation_p.M916I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	903					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)	p.M845I(1)		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)		TGAGCAGCATGACCCCCAGTT	0.592																																					p.M916I		.											ARID1B,NS,carcinoma,0,1	ARID1B	0	1	Substitution - Missense(1)	breast(1)	c.G2748T						.						95	87	90					6																	157469954		2203	4296	6499	SO:0001583	missense	57492	exon9			CAGCATGACCCCC	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.2709G>T	6.37:g.157469954G>T	ENSP00000055163:p.Met903Ile	42	1		32	3	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535032	0.45073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	6.17	5.29	0.74685	.	0.187458	0.47852	D	0.000210	T	0.11110	0.0271	L	0.39898	1.24	0.38139	D	0.938392	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	0.03993	-1.0986	10	0.41790	T	0.15	.	12.7814	0.57479	0.0:0.1293:0.7436:0.1271	.	153;287;903;916;845	Q8NFD5-4;F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;.;ARI1B_HUMAN;.;.	I	916;903;903;845;320;287;372;325	ENSP00000344546:M916I;ENSP00000055163:M903I;ENSP00000356116:M903I;ENSP00000275248:M845I;ENSP00000412835:M372I;ENSP00000313006:M325I	ENSP00000275248:M845I	M	+	3	0	ARID1B	157511646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.823000	0.55715	1.585000	0.49928	0.655000	0.94253	ATG	.		0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		T	157469954	G	T	157469954	3	4	5	1	0	0	0	0	1	0	0	0	914	1290	45	3	2782	3	ARID1B	6	157469954	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	93074977	157469954	13645113	51	594											
SNX9	51429	hgsc.bcm.edu	37	6	158288657	158288716	+	Splice_Site	DEL	ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	-	rs145589455|rs141851391	byFrequency	TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr6:158288657_158288716delACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	ENST00000392185.3	+	2	262_270	c.91_99delACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	c.(91-99)acaaatccgdel	p.TNP31del		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	31	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		CATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTAACAAATCCGG	0.369																																					p.30_33del		.											.	.	.	0			c.90_99del						.																																			SO:0001630	splice_region_variant	51429	exon2			ACAATCACAAATC	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.99+1ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA>-	6.37:g.158288657_158288716delACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA		71	0		94	0	NM_016224	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Frame_Shift_Del	DEL	ENST00000392185.3	37	CCDS5253.1																																																																																			.		0.369	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		In_Frame_Del	-	158288716	ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	-	158288657	8	5	5	1	0	1	0	1	0	0	1	0	14954	159	6	0	97	0	SNX9	6	158288657	Splice_Site	DEL	ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA	TCGA-3X-AAVE-01A-11D-A417-09	818703	158288657	12826410	52	595											
PNLDC1	154197	bcgsc.ca	37	6	160225658	160225658	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr6:160225658G>T	ENST00000610273.1	+	6	588	c.417G>T	c.(415-417)tgG>tgT	p.W139C	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.W150C	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	139						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGGGAACTGGAGAGTTCGCA	0.463																																					p.W139C													.	PNLDC1	66	0			c.G417T						.						101	97	98					6																	160225658		2203	4300	6503	SO:0001583	missense	154197	exon6			GAACTGGAGAGTT	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.417G>T	6.37:g.160225658G>T	ENSP00000476448:p.Trp139Cys	76	0		70	5	NM_173516	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344866	0.41498	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.28	5.28	0.74379	Ribonuclease H-like (1);	0.000000	0.56097	D	0.000030	T	0.54919	0.1888	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.56111	-0.8033	9	0.35671	T	0.21	.	16.0736	0.80951	0.0:0.0:1.0:0.0	.	150;139	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	C	139;150	.	ENSP00000275275:W139C	W	+	3	0	PNLDC1	160145648	1.000000	0.71417	0.853000	0.33588	0.235000	0.25334	5.988000	0.70579	2.457000	0.83068	0.655000	0.94253	TGG	.		0.463	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		T	160225658	G	T	160225658	3	4	5	1	0	0	0	0	1	0	0	0	12187	1183	41	3	435	3	PNLDC1	6	160225658	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	1937001	160225658	10889409	53	596											
ZNF12	7559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	6731851	6731851	+	Missense_Mutation	SNP	T	T	C	rs367716418		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr7:6731851T>C	ENST00000405858.1	-	5	1263	c.722A>G	c.(721-723)tAt>tGt	p.Y241C	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.Y167C|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y203C|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	241					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATTCCACTTATAGGGCTTTTC	0.383																																					p.Y241C		.											.	.	.	0			c.A722G						.	T	CYS/TYR,CYS/TYR	1,4105		0,1,2052	52	55	54		722,608	1.7	0.6	7		54	0,8484		0,0,4242	no	missense,missense	ZNF12	NM_016265.3,NM_006956.2	194,194	0,1,6294	CC,CT,TT		0.0,0.0244,0.0079	benign,benign	241/698,203/660	6731851	1,12589	2053	4242	6295	SO:0001583	missense	7559	exon5			CACTTATAGGGCT	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.722A>G	7.37:g.6731851T>C	ENSP00000385939:p.Tyr241Cys	54	0		57	8	NM_016265	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	7.968	0.748346	0.15710	2.44E-4	0.0	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.63913	-0.07;1.35;1.35	4.03	1.7	0.24286	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.575278	0.14693	N	0.304034	T	0.51534	0.1680	L	0.60904	1.88	0.23568	N	0.997399	B;B	0.09022	0.002;0.001	B;B	0.10450	0.002;0.005	T	0.51196	-0.8736	10	0.72032	D	0.01	.	2.2617	0.04068	0.2234:0.2878:0.0:0.4888	.	241;203	P17014;P17014-5	ZNF12_HUMAN;.	C	167;241;203;299;205	ENSP00000384405:Y167C;ENSP00000385939:Y241C;ENSP00000344745:Y203C	ENSP00000331039:Y205C	Y	-	2	0	ZNF12	6698376	0.011000	0.17503	0.599000	0.28851	0.997000	0.91878	0.233000	0.17911	0.374000	0.24650	0.460000	0.39030	TAT	.		0.383	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		C	6731851	T	C	6731851	3	2	5	1	0	0	0	0	1	0	0	0	17766	1406	49	4	1375	4	ZNF12	7	6731851	Missense_Mutation	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09		6731851	152406812	54	597											
FERD3L	222894	hgsc.bcm.edu	37	7	19184752	19184752	+	Silent	SNP	C	C	T	rs73079402		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr7:19184752C>T	ENST00000275461.3	-	1	292	c.234G>A	c.(232-234)gaG>gaA	p.E78E	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	78	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						gctcctcttcctcctcctctt	0.627																																					p.E78E		.											FERD3L,NS,carcinoma,0,1	FERD3L	0	0			c.G234A						.						71	51	58					7																	19184752		2203	4300	6503	SO:0001819	synonymous_variant	222894	exon1			CTCTTCCTCCTCC	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.234G>A	7.37:g.19184752C>T		25	0		14	2	NM_152898	Q495K0	Silent	SNP	ENST00000275461.3	37	CCDS5368.1																																																																																			.		0.627	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			T	19184752	C	T	19184752	2	4	5	1	0	0	0	0	0	0	0	1	5838	680	24	3		3	FERD3L	7	19184752	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	12452901	19184752	139953911	55	598											
ITGB8	3696	hgsc.bcm.edu;bcgsc.ca	37	7	20441344	20441344	+	Splice_Site	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr7:20441344G>T	ENST00000222573.4	+	10	1966	c.1282G>T	c.(1282-1284)Gtt>Ttt	p.V428F	ITGB8_ENST00000537992.1_Splice_Site_p.V293F	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	428					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTAAATTTAGGTTCTTTTCAA	0.249																																					p.V428F		.											.	.	.	0			c.G1282T						.						40	43	42					7																	20441344		2199	4300	6499	SO:0001630	splice_region_variant	3696	exon10			ATTTAGGTTCTTT		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1282-1G>T	7.37:g.20441344G>T		45	0		48	4	NM_002214	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977274	0.74360	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	T;T	0.70869	-0.52;-0.52	5.96	5.96	0.96718	Integrin beta subunit, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.87904	0.6295	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88579	0.3135	9	.	.	.	.	20.4123	0.99019	0.0:0.0:1.0:0.0	.	428	P26012	ITB8_HUMAN	F	293;428	ENSP00000441561:V293F;ENSP00000222573:V428F	.	V	+	1	0	ITGB8	20407869	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.434000	0.73408	2.824000	0.97209	0.655000	0.94253	GTT	.		0.249	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Missense_Mutation	T	20441344	G	T	20441344	5	4	5	1	0	0	0	0	0	0	1	0	7928	1275	44	3	1320	3	ITGB8	7	20441344	Splice_Site	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	1256592	20441344	138697319	56	599											
IFRD1	3475	hgsc.bcm.edu	37	7	112102177	112102178	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr7:112102177_112102178insA	ENST00000403825.3	+	7	1001_1002	c.740_741insA	c.(739-744)gcatggfs	p.W248fs	IFRD1_ENST00000005558.4_Frame_Shift_Ins_p.W248fs|IFRD1_ENST00000535603.1_Frame_Shift_Ins_p.W198fs|IFRD1_ENST00000486688.1_3'UTR	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	248					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						TCTCTTCTTGCATGGACACTAC	0.342																																					p.A247fs		.											.	.	.	0			c.740_741insA						.																																			SO:0001589	frameshift_variant	3475	exon8			TTCTTGCATGGAC	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.741dupA	7.37:g.112102178_112102178dupA	ENSP00000384477:p.Trp248fs	102	0		85	18	NM_001007245	B7Z5G1|O75234|Q5U013|Q9BVE4	Frame_Shift_Ins	INS	ENST00000403825.3	37	CCDS34736.1																																																																																			.		0.342	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		A	112102178	-	A	112102177	7	5	5	1	0	1	1	0	0	0	0	0	7580	710	25	0	766	0	IFRD1	7	112102177	Frame_Shift_Ins	INS	-	TCGA-3X-AAVE-01A-11D-A417-09	91660833	112102177	47036486	57	600											
NOS3	4846	broad.mit.edu	37	7	150704218	150704218	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr7:150704218G>A	ENST00000297494.3	+	17	2323	c.1966G>A	c.(1966-1968)Gca>Aca	p.A656T	NOS3_ENST00000461406.1_Missense_Mutation_p.A450T	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)		CGGCTCCCGGGCATACCCCCA	0.682																																					p.A656T													NOS3,NS,carcinoma,-2,1	NOS3	131	0			c.G1966A						.						101	102	102					7																	150704218		2203	4300	6503	SO:0001583	missense	4846	exon17			TCCCGGGCATACC		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.1966G>A	7.37:g.150704218G>A	ENSP00000297494:p.Ala656Thr	50	0		43	3	NM_000603	Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391992	0.83011	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000010	T	0.71230	0.3315	L	0.33189	0.99	0.80722	D	1	B;B	0.33739	0.032;0.422	B;B	0.42653	0.056;0.394	T	0.70749	-0.4787	10	0.39692	T	0.17	-22.7549	16.0526	0.80774	0.0:0.0:1.0:0.0	.	450;656	E7ESA7;P29474	.;NOS3_HUMAN	T	656;450	ENSP00000297494:A656T;ENSP00000417143:A450T	ENSP00000297494:A656T	A	+	1	0	NOS3	150335151	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.913000	0.87471	2.457000	0.83068	0.499000	0.49734	GCA	.		0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		A	150704218	G	A	150704218	3	1	5	1	0	0	0	0	1	0	0	0	10583	1203	42	3	2310	3	NOS3	7	150704218	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	38602041	150704218	8434445	58	601											
DLGAP2	9228	hgsc.bcm.edu	37	8	1616531	1616531	+	Missense_Mutation	SNP	C	C	T	rs370388753		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr8:1616531C>T	ENST00000421627.2	+	6	1741	c.1607C>T	c.(1606-1608)cCg>cTg	p.P536L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	615					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)		ACGCCCCCACCGGTGCCCCCT	0.577																																					p.P536L		.											.	.	.	0			c.C1607T						.	C	LEU/PRO	0,3734		0,0,1867	11	13	12		1607	5.5	0.1	8		12	1,8179		0,1,4089	no	missense	DLGAP2	NM_004745.3	98	0,1,5956	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	536/976	1616531	1,11913	1867	4090	5957	SO:0001583	missense	9228	exon6			CCCCACCGGTGCC	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.1607C>T	8.37:g.1616531C>T	ENSP00000400258:p.Pro536Leu	110	0		93	5	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.68|17.68	3.450113|3.450113	0.63290|0.63290	0.0|0.0	1.22E-4|1.22E-4	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.20463|.	2.07|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83161|0.83161	0.5194|0.5194	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.84336|0.84336	0.0524|0.0524	10|5	0.87932|.	D|.	0|.	-14.7405|-14.7405	19.458|19.458	0.94903|0.94903	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	615;615|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|W	581;536|553	ENSP00000400258:P536L|.	ENSP00000348366:P581L|.	P|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1603938|1603938	1.000000|1.000000	0.71417|0.71417	0.112000|0.112000	0.21494|0.21494	0.011000|0.011000	0.07611|0.07611	7.404000|7.404000	0.79996|0.79996	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	CCG|CGG	.		0.577	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1616531	C	T	1616531	3	4	5	1	0	0	0	0	1	0	0	0	4574	652	23	1	1625	1	DLGAP2	8	1616531	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09		1616531	144747491	59	602											
ZNF703	80139	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	37555950	37555950	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr8:37555950G>A	ENST00000331569.4	+	2	1760	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	511	Poly-Ala.				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)			cgccgccgccgccgccgccgc	0.766																																					p.A511T		.											.	.	.	0			c.G1531A						.						1	1	1					8																	37555950		706	1819	2525	SO:0001583	missense	80139	exon2			GCCGCCGCCGCCG	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.1531G>A	8.37:g.37555950G>A	ENSP00000332325:p.Ala511Thr	30	0		35	9	NM_025069	Q5XG76	Missense_Mutation	SNP	ENST00000331569.4	37	CCDS6094.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115878	0.56505	.	.	ENSG00000183779	ENST00000331569	T	0.47528	0.84	3.48	3.48	0.39840	.	0.000000	0.38058	N	0.001822	T	0.22975	0.0555	N	0.14661	0.345	0.32638	N	0.521036	D	0.53745	0.962	B	0.35240	0.198	T	0.26467	-1.0102	10	0.22109	T	0.4	-7.487	10.3471	0.43911	0.0:0.0:1.0:0.0	.	511	Q9H7S9	ZN703_HUMAN	T	511	ENSP00000332325:A511T	ENSP00000332325:A511T	A	+	1	0	ZNF703	37675108	0.990000	0.36364	0.296000	0.24974	0.757000	0.42996	3.077000	0.50089	1.771000	0.52183	0.313000	0.20887	GCC	.		0.766	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		A	37555950	G	A	37555950	3	1	5	1	0	0	0	0	1	0	0	0	18154	1087	38	1	1537	1	ZNF703	8	37555950	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	35939419	37555950	108808072	60	603											
BAI1	575	hgsc.bcm.edu	37	8	143570419	143570419	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr8:143570419G>T	ENST00000517894.1	+	15	3370	c.2476G>T	c.(2476-2478)Gtg>Ttg	p.V826L	BAI1_ENST00000323289.5_Missense_Mutation_p.V826L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	826					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)					ATCCGTGTTTGTGGTGGGCAC	0.672																																					p.V826L		.											BAI1,right_lower_lobe,carcinoma,0,1	BAI1	0	0			c.G2476T						.						51	51	51					8																	143570419		2001	4149	6150	SO:0001583	missense	575	exon14			GTGTTTGTGGTGG	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.2476G>T	8.37:g.143570419G>T	ENSP00000430945:p.Val826Leu	40	0		40	2	NM_001702		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	16.17	3.048306	0.55110	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.11821	2.74;2.74	4.94	4.94	0.65067	.	0.082710	0.47455	U	0.000221	T	0.13586	0.0329	L	0.54323	1.7	0.46798	D	0.999204	B	0.32409	0.37	B	0.30316	0.114	T	0.02868	-1.1100	10	0.49607	T	0.09	.	9.317	0.37941	0.0989:0.0:0.9011:0.0	.	826	E9PBK0	.	L	826	ENSP00000430945:V826L;ENSP00000313046:V826L	ENSP00000313046:V826L	V	+	1	0	BAI1	143567421	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	5.512000	0.67030	2.269000	0.75478	0.462000	0.41574	GTG	.		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143570419	G	T	143570419	3	4	5	1	0	0	0	0	1	0	0	0	1299	1377	48	3	2530	3	BAI1	8	143570419	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	106014469	143570419	2793603	61	604											
CDKN2A	1029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	21971003	21971003	+	Missense_Mutation	SNP	C	C	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr9:21971003C>G	ENST00000304494.5	-	2	625	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	CDKN2A_ENST00000579755.1_Nonstop_Mutation_p.*133S|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119Q|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119Q|CDKN2A_ENST00000361570.3_Nonstop_Mutation_p.*174S|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68Q|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119Q|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68Q|CDKN2A_ENST00000530628.2_Nonstop_Mutation_p.*133S|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			E -> Q (in a biliary tract tumor).		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?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(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)		CCCAGCTCCTCAGCCAGGTCC	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.X133S		.											CDKN2A_ENST00000498124,bladder,carcinoma,0,13	CDKN2A_ENST00000498124	0	1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	c.G398C						.						24	26	25					9																	21971003		2202	4298	6500	SO:0001583	missense	1029	exon2			GCTCCTCAGCCAG	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	ENST00000304494.5:c.355G>C	9.37:g.21971003C>G	ENSP00000307101:p.Glu119Gln	25	0		23	9	NM_058195	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.17|13.17	2.157623|2.157623	0.38119|0.38119	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	T;T|.	0.64085|.	-0.08;-0.08|.	5.93|5.93	2.91|2.91	0.33838|0.33838	Ankyrin repeat-containing domain (4);|.	.|.	.|.	.|.	.|.	T|.	0.35682|.	0.0940|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|.	0.69078|.	0.997|.	D|.	0.73380|.	0.98|.	T|.	0.20371|.	-1.0277|.	8|.	0.25751|.	T|.	0.34|.	-4.2732|-4.2732	8.4897|8.4897	0.33093|0.33093	0.0:0.4925:0.4233:0.0842|0.0:0.4925:0.4233:0.0842	.|.	119|.	P42771|.	CD2A1_HUMAN|.	Q|S	119|174;133	ENSP00000307101:E119Q;ENSP00000394932:E119Q|.	ENSP00000307101:E119Q|.	E|X	-|-	1|2	0|2	CDKN2A|CDKN2A	21961003|21961003	0.002000|0.002000	0.14202|0.14202	0.998000|0.998000	0.56505|0.56505	0.865000|0.865000	0.49528|0.49528	0.628000|0.628000	0.24522|0.24522	0.816000|0.816000	0.34421|0.34421	0.655000|0.655000	0.94253|0.94253	GAG|TGA	.		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		G	21971003	C	G	21971003	3	3	5	1	0	0	0	0	1	0	0	0	3168	838	29	5	123	5	CDKN2A	9	21971003	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09		21971003	119242428	62	605											
TLE1	7088	hgsc.bcm.edu	37	9	84226713	84226713	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr9:84226713C>T	ENST00000376499.3	-	13	2289	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	TLE1_ENST00000464999.1_5'Flank|TLE1_ENST00000376484.1_Missense_Mutation_p.A84T|TLE1_ENST00000376472.1_Missense_Mutation_p.A84T	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	409	Pro/Ser-rich.			AAAVVA -> RGRRGR (in Ref. 1; AAA61192). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACCACGGCGGCCGCGGCG	0.682																																					p.A409T	NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	.											TLE1,NS,carcinoma,0,1	TLE1	0	0			c.G1225A						.						12	15	14					9																	84226713		2120	4150	6270	SO:0001583	missense	7088	exon13			CCACGGCGGCCGC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1225G>A	9.37:g.84226713C>T	ENSP00000365682:p.Ala409Thr	65	0		56	2	NM_005077	A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157213	0.57259	.	.	ENSG00000196781	ENST00000376499;ENST00000376484;ENST00000376472	T;T;T	0.54866	0.9;0.55;0.55	5.6	5.6	0.85130	.	0.256692	0.39274	N	0.001415	T	0.63628	0.2527	M	0.72894	2.215	0.80722	D	1	B;P;P;P	0.51449	0.086;0.92;0.945;0.939	B;B;B;P	0.49252	0.014;0.425;0.422;0.604	T	0.64067	-0.6494	10	0.42905	T	0.14	-20.2783	19.6254	0.95676	0.0:1.0:0.0:0.0	.	335;394;435;409	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	T	409;84;84	ENSP00000365682:A409T;ENSP00000365667:A84T;ENSP00000365655:A84T	ENSP00000365655:A84T	A	-	1	0	TLE1	83416533	1.000000	0.71417	0.960000	0.40013	0.175000	0.22909	7.702000	0.84576	2.662000	0.90505	0.655000	0.94253	GCC	.		0.682	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		T	84226713	C	T	84226713	3	4	5	1	0	0	0	0	1	0	0	0	15985	768	27	1	1119	1	TLE1	9	84226713	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	62255710	84226713	56986718	63	606											
COL27A1	85301	hgsc.bcm.edu	37	9	116931158	116931158	+	Silent	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr9:116931158G>T	ENST00000356083.3	+	3	1714	c.1323G>T	c.(1321-1323)cgG>cgT	p.R441R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	441	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCAGCACCCGGCCCCTACCTC	0.632																																					p.R441R		.											COL27A1,NS,carcinoma,0,1	COL27A1	0	0			c.G1323T						.						96	119	111					9																	116931158		2203	4300	6503	SO:0001819	synonymous_variant	85301	exon3			CACCCGGCCCCTA	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.1323G>T	9.37:g.116931158G>T		52	0		42	2	NM_032888	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			.		0.632	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116931158	G	T	116931158	2	4	5	1	0	0	0	0	0	0	0	1	3692	1190	42	3		3	COL27A1	9	116931158	Silent	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	32704445	116931158	24282273	64	607											
SPTAN1	6709	hgsc.bcm.edu	37	9	131348107	131348107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr9:131348107C>T	ENST00000372731.4	+	19	2751	c.2641C>T	c.(2641-2643)Cag>Tag	p.Q881*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q881*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q881*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	881					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						CAAAGCTTCCCAGCGTCGGCA	0.557																																					p.Q881X	NSCLC(120;833 1744 2558 35612 37579)	.											SPTAN1,colon,carcinoma,0,1	SPTAN1	0	0			c.C2641T						.						85	82	83					9																	131348107		2203	4300	6503	SO:0001587	stop_gained	6709	exon19			GCTTCCCAGCGTC	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.2641C>T	9.37:g.131348107C>T	ENSP00000361816:p.Gln881*	35	0		23	2	NM_003127	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	42	9.201112	0.99098	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.1131	0.93326	0.0:1.0:0.0:0.0	.	.	.	.	X	881	.	ENSP00000350882:Q881X	Q	+	1	0	SPTAN1	130387928	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.445000	0.80570	2.832000	0.97577	0.655000	0.94253	CAG	.		0.557	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131348107	C	T	131348107	4	4	5	1	0	0	0	0	0	1	0	0	15164	595	21	3	2711	3	SPTAN1	9	131348107	Nonsense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	14416949	131348107	9865324	65	608											
CAMSAP1	157922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	138703285	138703285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr9:138703285G>T	ENST00000389532.4	-	17	4743	c.4679C>A	c.(4678-4680)tCa>tAa	p.S1560*	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Nonsense_Mutation_p.S1571*|CAMSAP1_ENST00000312405.6_Nonsense_Mutation_p.S1282*	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1560	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				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)		TTTTCGGTCTGAGCTGTATTT	0.473																																					p.S1560X		.											.	.	.	0			c.C4679A						.						243	195	211					9																	138703285		2203	4300	6503	SO:0001587	stop_gained	157922	exon17			CGGTCTGAGCTGT	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.4679C>A	9.37:g.138703285G>T	ENSP00000374183:p.Ser1560*	59	0		46	23	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Nonsense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	44	11.038245	0.99507	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0966	0.93255	0.0:0.0:1.0:0.0	.	.	.	.	X	1560;1282;1571	.	ENSP00000312463:S1282X	S	-	2	0	CAMSAP1	137843106	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	9.662000	0.98603	2.582000	0.87167	0.561000	0.74099	TCA	.		0.473	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		T	138703285	G	T	138703285	4	4	5	1	0	0	0	0	0	1	0	0	2618	1294	45	3	133	3	CAMSAP1	9	138703285	Nonsense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	7355178	138703285	2510146	66	609											
NET1	10276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	5496410	5496410	+	Silent	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr10:5496410A>G	ENST00000355029.4	+	9	1093	c.951A>G	c.(949-951)aaA>aaG	p.K317K	NET1_ENST00000380359.3_Silent_p.K263K|NET1_ENST00000542715.1_Silent_p.K136K|NET1_ENST00000484741.1_3'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	317	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						GCCTAGTCAAATACCCTTTAC	0.433																																					p.K317K		.											.	.	.	0			c.A951G						.						63	66	65					10																	5496410		2203	4300	6503	SO:0001819	synonymous_variant	10276	exon9			AGTCAAATACCCT	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.951A>G	10.37:g.5496410A>G		60	0		55	8	NM_001047160	Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	CCDS41483.1																																																																																			.		0.433	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		G	5496410	A	G	5496410	2	3	5	1	0	0	0	0	0	0	0	1	10377	98	4	4		4	NET1	10	5496410	Silent	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09		5496410	130038337	67	610											
PCDH15	65217	hgsc.bcm.edu	37	10	55566583	55566583	+	Missense_Mutation	SNP	G	G	T	rs570460962		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr10:55566583G>T	ENST00000373965.2	-	36	5205	c.4811C>A	c.(4810-4812)tCt>tAt	p.S1604Y	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1601Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				TTTTTCAGTAGAAAATGGCCC	0.473										HNSCC(58;0.16)																											.		.											PCDH15_ENST00000414778,NS,carcinoma,0,1	PCDH15_ENST00000414778	0	0			.						.						279	256	263					10																	55566583		1568	3582	5150	SO:0001583	missense	65217	p.S1604Y			TCAGTAGAAAATG	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	ENST00000373965.2:c.4811C>A	10.37:g.55566583G>T	ENSP00000363076:p.Ser1604Tyr	45	0		38	2	.	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37		.	.	.	.	.	.	.	.	.	.	G	14.52	2.559630	0.45590	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.60040	0.22;0.26	5.71	5.71	0.89125	.	.	.	.	.	T	0.55721	0.1938	L	0.60455	1.87	0.80722	D	1	P;P	0.37955	0.612;0.612	B;B	0.33890	0.172;0.172	T	0.62025	-0.6941	9	0.87932	D	0	.	17.6362	0.88123	0.0:0.0:1.0:0.0	.	1595;1601	C6ZEF7;C9J4F3	.;.	Y	1604;1601;1597	ENSP00000363076:S1604Y;ENSP00000410304:S1601Y	ENSP00000363076:S1604Y	S	-	2	0	PCDH15	55236589	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.031000	0.76491	2.699000	0.92147	0.655000	0.94253	TCT	.		0.473	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		T	55566583	G	T	55566583	3	4	5	1	0	0	0	0	1	0	0	0	11550	942	33	3	247	3	PCDH15	10	55566583	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	50070173	55566583	79968164	68	611											
OR51A4	401666	broad.mit.edu	37	11	4967989	4967989	+	Silent	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr11:4967989G>T	ENST00000380373.2	-	1	367	c.342C>A	c.(340-342)tcC>tcA	p.S114S	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	114						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)		GGAGGACTGAGGACTCCAGTA	0.453																																					p.S114S													.	OR51A4	73	0			c.C342A						.						177	178	177					11																	4967989		2191	4286	6477	SO:0001819	synonymous_variant	401666	exon1			GACTGAGGACTCC	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.342C>A	11.37:g.4967989G>T		58	0		42	3	NM_001005329		Silent	SNP	ENST00000380373.2	37	CCDS31367.1																																																																																			.		0.453	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		T	4967989	G	T	4967989	2	4	5	1	0	0	0	0	0	0	0	1	11126	987	35	3		3	OR51A4	11	4967989	Silent	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		4967989	130038527	69	612											
OR5D16	390144	broad.mit.edu;bcgsc.ca	37	11	55606662	55606662	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr11:55606662G>A	ENST00000378396.1	+	1	435	c.435G>A	c.(433-435)atG>atA	p.M145I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	145						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)				TCTGTGCCATGCTGGTGGTTG	0.448																																					p.M145I													OR5D16,NS,carcinoma,+2,1	OR5D16	94	0			c.G435A						.						126	114	118					11																	55606662		2201	4296	6497	SO:0001583	missense	390144	exon1			TGCCATGCTGGTG	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.435G>A	11.37:g.55606662G>A	ENSP00000367649:p.Met145Ile	38	0		60	5	NM_001005496	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204083	0.38905	.	.	ENSG00000205029	ENST00000378396	T	0.00063	8.78	4.31	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04063	-0.285	0.09310	N	1	B	0.12630	0.006	B	0.21151	0.033	T	0.00501	-1.1702	9	0.22109	T	0.4	-2.3044	7.178	0.25755	0.0844:0.0:0.6187:0.297	.	145	Q8NGK9	OR5DG_HUMAN	I	145	ENSP00000367649:M145I	ENSP00000367649:M145I	M	+	3	0	OR5D16	55363238	0.000000	0.05858	0.001000	0.08648	0.631000	0.37964	-2.580000	0.00907	0.427000	0.26145	-0.273000	0.10243	ATG	.		0.448	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55606662	G	A	55606662	3	1	5	1	0	0	0	0	1	0	0	0	11195	1319	46	3	437	3	OR5D16	11	55606662	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	50638673	55606662	79399854	70	613											
KCNK4	50801	hgsc.bcm.edu	37	11	64064727	64064727	+	Silent	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr11:64064727C>T	ENST00000539216.1	+	3	810	c.450C>T	c.(448-450)atC>atT	p.I150I	RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.I150I|KCNK4_ENST00000394525.2_Silent_p.I150I|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000538767.1_Missense_Mutation_p.S84L|Y_RNA_ENST00000384297.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	150					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)	p.I150I(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GCCATGGCATCGGTCACATTG	0.627																																					p.I150I		.											KCNK4,rectum,carcinoma,0,1	KCNK4	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T						.						47	47	47					11																	64064727		2201	4297	6498	SO:0001819	synonymous_variant	50801	exon4			TGGCATCGGTCAC	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.450C>T	11.37:g.64064727C>T		34	0		26	3	NM_033310	B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320064	0.41096	.	.	ENSG00000182450	ENST00000538767	.	.	.	5.05	-2.44	0.06502	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.11329	0.006;0.006	T	0.36817	-0.9732	7	0.87932	D	0	.	10.8859	0.46965	0.0:0.5438:0.0:0.4562	.	123;84	B4DJC9;F5GYE0	.;.	L	84	.	ENSP00000446454:S84L	S	+	2	0	KCNK4	63821303	0.030000	0.19436	0.729000	0.30791	0.995000	0.86356	-0.960000	0.03849	-0.504000	0.06577	0.561000	0.74099	TCG	.		0.627	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		T	64064727	C	T	64064727	2	4	5	1	0	0	0	0	0	0	0	1	8095	874	31	1		1	KCNK4	11	64064727	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	8458065	64064727	70941789	71	614											
SNX15	29907	bcgsc.ca	37	11	64799964	64799964	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr11:64799964A>G	ENST00000377244.3	+	3	327	c.197A>G	c.(196-198)cAc>cGc	p.H66R	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.H66R	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	66	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTACACCCACCGCAACCTC	0.597																																					p.H66R	Esophageal Squamous(56;269 1304 3324 8253)												.	SNX15	35	0			c.A197G						.						80	69	72					11																	64799964		2201	4297	6498	SO:0001583	missense	29907	exon3			ACACCCACCGCAA	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.197A>G	11.37:g.64799964A>G	ENSP00000366452:p.His66Arg	63	0		46	5	NM_147777	E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	CCDS8089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.051886|4.051886	0.75960|0.75960	.|.	.|.	ENSG00000110025|ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068|ENST00000525648	T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Phox homologous domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71719|0.71719	0.3373|0.3373	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.993;0.999|.	D;D;D|.	0.69824|.	0.966;0.937;0.966|.	T|T	0.75036|0.75036	-0.3459|-0.3459	10|6	0.72032|0.87932	D|D	0.01|0	-16.9879|-16.9879	13.5299|13.5299	0.61615|0.61615	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	66;66;66|.	E5KQS5;E5KQS6;Q9NRS6|.	.;.;SNX15_HUMAN|.	R|A	66;62;54;66|25	ENSP00000366452:H66R;ENSP00000437277:H62R;ENSP00000431690:H54R;ENSP00000316410:H66R|.	ENSP00000316410:H66R|ENSP00000436023:T25A	H|T	+|+	2|1	0|0	SNX15|SNX15	64556540|64556540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.223000|8.223000	0.89779|0.89779	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	CAC|ACC	.		0.597	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			G	64799964	A	G	64799964	3	3	5	1	0	0	0	0	1	0	0	0	14931	159	6	4	207	4	SNX15	11	64799964	Missense_Mutation	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	735237	64799964	70206552	72	615											
BIRC2	329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	102221620	102221620	+	Missense_Mutation	SNP	G	G	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr11:102221620G>C	ENST00000227758.2	+	3	2340	c.941G>C	c.(940-942)aGg>aCg	p.R314T	BIRC2_ENST00000532672.1_Missense_Mutation_p.R293T|BIRC2_ENST00000530675.1_Missense_Mutation_p.R265T|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	314					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)		GGTGGCTTGAGGTGTTGGGAA	0.353																																					p.R314T		.											.	.	.	0			c.G941C						.						332	312	319					11																	102221620		2203	4299	6502	SO:0001583	missense	329	exon3			GCTTGAGGTGTTG	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.941G>C	11.37:g.102221620G>C	ENSP00000227758:p.Arg314Thr	91	0		72	17	NM_001256163	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478902	0.63849	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.72051	-0.62;-0.62;-0.62	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83530	0.0090	10	0.51188	T	0.08	-20.4457	20.2019	0.98263	0.0:0.0:1.0:0.0	.	314	Q13490	BIRC2_HUMAN	T	265;314;314;293	ENSP00000431723:R265T;ENSP00000227758:R314T;ENSP00000434979:R293T	ENSP00000227758:R314T	R	+	2	0	BIRC2	101726830	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.639000	0.83342	2.776000	0.95493	0.655000	0.94253	AGG	.		0.353	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		C	102221620	G	C	102221620	3	2	5	1	0	0	0	0	1	0	0	0	1437	1000	35	5	947	5	BIRC2	11	102221620	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	37421656	102221620	32784896	73	616											
SIK2	23235	hgsc.bcm.edu	37	11	111572283	111572283	+	Silent	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr11:111572283G>A	ENST00000304987.3	+	6	884	c.711G>A	c.(709-711)ccG>ccA	p.P237P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TCCGGATTCCGTATTTCATGT	0.408																																					p.P237P		.											.	.	.	0			c.G711A						.						191	173	179					11																	111572283		2201	4297	6498	SO:0001819	synonymous_variant	23235	exon6			GATTCCGTATTTC	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.711G>A	11.37:g.111572283G>A		107	0		91	4	NM_015191	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	CCDS8347.1																																																																																			.		0.408	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		A	111572283	G	A	111572283	2	1	5	1	0	0	0	0	0	0	0	1	14363	1132	40	1		1	SIK2	11	111572283	Silent	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	9350663	111572283	23434233	74	617											
PA2G4	5036	hgsc.bcm.edu	37	12	56503676	56503676	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr12:56503676G>T	ENST00000303305.6	+	7	1005	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.D196Y	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	196					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.D196Y(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)			GCATGTCATCGATGGAGAAAA	0.438																																					p.D196Y		.											PA2G4,NS,carcinoma,0,1	PA2G4	0	1	Substitution - Missense(1)	endometrium(1)	c.G586T						.						119	110	113					12																	56503676		2203	4300	6503	SO:0001583	missense	5036	exon7			GTCATCGATGGAG	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.586G>T	12.37:g.56503676G>T	ENSP00000302886:p.Asp196Tyr	33	0		42	2	NM_006191	O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144729	0.94603	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T	0.80480	-1.38;-1.38	5.55	5.55	0.83447	Peptidase M24, structural domain (3);	0.041017	0.85682	D	0.000000	D	0.89612	0.6765	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.944;0.983;0.99	D	0.89535	0.3788	10	0.56958	D	0.05	.	18.6313	0.91360	0.0:0.0:1.0:0.0	.	196;196;196	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	Y	196;196;225;196;196;185	ENSP00000302886:D196Y;ENSP00000448557:D196Y	ENSP00000302886:D196Y	D	+	1	0	PA2G4	54789943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.709000	0.98729	2.773000	0.95371	0.650000	0.86243	GAT	.		0.438	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		T	56503676	G	T	56503676	3	4	5	1	0	0	0	0	1	0	0	0	11400	1058	37	2	612	2	PA2G4	12	56503676	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		56503676	77348219	75	618											
POC1B	282809	broad.mit.edu	37	12	89891025	89891025	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr12:89891025G>T	ENST00000313546.3	-	3	323	c.195C>A	c.(193-195)agC>agA	p.S65R	POC1B_ENST00000393179.4_Intron|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Missense_Mutation_p.S23R|POC1B_ENST00000541909.1_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	65					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAACTGCACGCTGGTTACAA	0.438																																					p.S65R													.	POC1B	41	0			c.C195A						.						155	140	145					12																	89891025		2203	4300	6503	SO:0001583	missense	282809	exon3			CTGCACGCTGGTT	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.195C>A	12.37:g.89891025G>T	ENSP00000323302:p.Ser65Arg	40	0		53	3	NM_172240	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217266	0.39201	.	.	ENSG00000139323	ENST00000313546;ENST00000549035	T;T	0.65732	-0.17;-0.17	5.65	2.78	0.32641	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.127039	0.64402	D	0.000001	T	0.74313	0.3700	M	0.72624	2.21	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.74788	-0.3546	10	0.66056	D	0.02	.	10.0726	0.42341	0.3166:0.0:0.6834:0.0	.	65	Q8TC44	POC1B_HUMAN	R	65;23	ENSP00000323302:S65R;ENSP00000447916:S23R	ENSP00000323302:S65R	S	-	3	2	POC1B	88415156	0.011000	0.17503	1.000000	0.80357	0.998000	0.95712	-0.660000	0.05317	0.725000	0.32318	0.591000	0.81541	AGC	.		0.438	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		T	89891025	G	T	89891025	3	4	5	1	0	0	0	0	1	0	0	0	12215	1078	38	2	1281	2	POC1B	12	89891025	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	33387349	89891025	43960870	76	619											
GNPTAB	79158	hgsc.bcm.edu	37	12	102147186	102147186	+	Missense_Mutation	SNP	C	C	T	rs141007019		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr12:102147186C>T	ENST00000299314.7	-	19	3828	c.3566G>A	c.(3565-3567)cGa>cAa	p.R1189Q		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1189					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						GAAACGGTTTCGATACTCTCT	0.403																																					p.R1189Q		.											GNPTAB,NS,carcinoma,0,3	GNPTAB	0	0			c.G3566A	GRCh37	CI054460	GNPTAB	I	rs141007019	.	C	GLN/ARG	0,4406		0,0,2203	146	131	136		3566	4.8	1	12	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GNPTAB	NM_024312.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1189/1257	102147186	1,13005	2203	4300	6503	SO:0001583	missense	79158	exon19			CGGTTTCGATACT	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.3566G>A	12.37:g.102147186C>T	ENSP00000299314:p.Arg1189Gln	40	0		46	2	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	35	5.439281	0.96168	0.0	1.16E-4	ENSG00000111670	ENST00000299314	D	0.82526	-1.62	5.69	4.8	0.61643	.	0.061347	0.64402	D	0.000004	D	0.87665	0.6234	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	P	0.52627	0.704	D	0.89243	0.3585	10	0.72032	D	0.01	-13.337	14.7589	0.69590	0.0:0.9303:0.0:0.0697	.	1189	Q3T906	GNPTA_HUMAN	Q	1189	ENSP00000299314:R1189Q	ENSP00000299314:R1189Q	R	-	2	0	GNPTAB	100671317	1.000000	0.71417	0.958000	0.39756	0.975000	0.68041	7.484000	0.81180	1.409000	0.46915	0.591000	0.81541	CGA	0.000		0.403	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			T	102147186	C	T	102147186	3	4	5	1	0	0	0	0	1	0	0	0	6571	884	31	1	216	1	GNPTAB	12	102147186	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	12256161	102147186	31704709	77	620											
NT5DC3	51559	hgsc.bcm.edu;bcgsc.ca	37	12	104171615	104171615	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr12:104171615C>T	ENST00000392876.3	-	14	1679	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	547						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						GGCTACTTGGCCTGGGCCTCC	0.572																																					p.A547T		.											.	.	.	0			c.G1639A						.						52	57	55					12																	104171615		2203	4300	6503	SO:0001583	missense	51559	exon14			ACTTGGCCTGGGC	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.1639G>A	12.37:g.104171615C>T	ENSP00000376615:p.Ala547Thr	45	0		51	4	NM_001031701	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013123	0.54468	.	.	ENSG00000111696	ENST00000392876	T	0.23754	1.89	5.8	5.8	0.92144	.	0.458926	0.22874	N	0.054589	T	0.11965	0.0291	N	0.08118	0	0.28766	N	0.900658	B	0.19817	0.039	B	0.14023	0.01	T	0.13575	-1.0504	10	0.06494	T	0.89	-28.8217	12.5202	0.56054	0.0:0.9216:0.0:0.0784	.	547	Q86UY8	NT5D3_HUMAN	T	547	ENSP00000376615:A547T	ENSP00000376615:A547T	A	-	1	0	NT5DC3	102695745	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	0.990000	0.29642	2.735000	0.93741	0.655000	0.94253	GCC	.		0.572	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		T	104171615	C	T	104171615	3	4	5	1	0	0	0	0	1	0	0	0	10731	739	26	3	11	3	NT5DC3	12	104171615	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	2024429	104171615	29680280	78	621											
POLE	5426	bcgsc.ca	37	12	133253969	133253969	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr12:133253969C>T	ENST00000320574.5	-	8	824	c.781G>A	c.(781-783)Gat>Aat	p.D261N	POLE_ENST00000535270.1_Missense_Mutation_p.D234N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	261					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)	ACAAGGTCATCTCGGCGGGTG	0.428								DNA polymerases (catalytic subunits)																													p.D261N													.	POLE	416	0			c.G781A						.						123	115	118					12																	133253969		2203	4300	6503	SO:0001583	missense	5426	exon8			GGTCATCTCGGCG		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.781G>A	12.37:g.133253969C>T	ENSP00000322570:p.Asp261Asn	56	0		55	4	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625413	0.87560	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.64	5.64	0.86602	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.20618	0.0496	L	0.50333	1.59	0.80722	D	1	P;P	0.49961	0.93;0.629	P;B	0.50825	0.651;0.229	T	0.00322	-1.1818	10	0.30078	T	0.28	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	234;261	F5H1D6;Q07864	.;DPOE1_HUMAN	N	261;272;234;41;196	ENSP00000322570:D261N;ENSP00000406383:D272N;ENSP00000445753:D234N;ENSP00000442519:D41N	ENSP00000322570:D261N	D	-	1	0	POLE	131764042	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.736000	0.84948	2.654000	0.90174	0.563000	0.77884	GAT	.		0.428	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133253969	C	T	133253969	3	4	5	1	0	0	0	0	1	0	0	0	12235	913	32	3	6247	3	POLE	12	133253969	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	29082354	133253969	597926	79	622											
PARP4	143	hgsc.bcm.edu	37	13	25064843	25064843	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr13:25064843G>T	ENST00000381989.3	-	10	1282	c.1177C>A	c.(1177-1179)Ctc>Atc	p.L393I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	393	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)		CTAACCCTGAGAAATTCTTCA	0.388																																					p.L393I		.											PARP4,NS,carcinoma,0,1	PARP4	0	0			c.C1177A						.						129	128	128					13																	25064843		2203	4300	6503	SO:0001583	missense	143	exon10			CCCTGAGAAATTC	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.1177C>A	13.37:g.25064843G>T	ENSP00000371419:p.Leu393Ile	106	0		70	3	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	6.902	0.535938	0.13188	.	.	ENSG00000102699	ENST00000381989	T	0.13538	2.58	4.63	1.84	0.25277	Poly(ADP-ribose) polymerase, catalytic domain (2);	1.359980	0.04827	N	0.438032	T	0.12135	0.0295	L	0.46157	1.445	0.09310	N	0.99999	B	0.18166	0.026	B	0.16289	0.015	T	0.36407	-0.9749	10	0.22706	T	0.39	-0.0676	2.7327	0.05231	0.5665:0.0:0.2436:0.1898	.	393	Q9UKK3	PARP4_HUMAN	I	393	ENSP00000371419:L393I	ENSP00000371419:L393I	L	-	1	0	PARP4	23962843	0.177000	0.23109	0.318000	0.25279	0.937000	0.57800	0.431000	0.21444	0.170000	0.19704	-0.280000	0.10049	CTC	.		0.388	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25064843	G	T	25064843	3	4	5	1	0	0	0	0	1	0	0	0	11502	942	33	3	4097	3	PARP4	13	25064843	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		25064843	90105035	80	623											
FNDC3A	22862	hgsc.bcm.edu	37	13	49719949	49719949	+	Silent	SNP	C	C	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr13:49719949C>A	ENST00000492622.2	+	8	1160	c.855C>A	c.(853-855)acC>acA	p.T285T	FNDC3A_ENST00000398316.3_Silent_p.T229T|FNDC3A_ENST00000541916.1_Silent_p.T285T	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	285	Fibronectin type-III 1. {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)		TAGTACTTACCTGGTCACCAC	0.388																																					p.T285T		.											.	.	.	0			c.C855A						.						118	110	113					13																	49719949		2203	4300	6503	SO:0001819	synonymous_variant	22862	exon8			ACTTACCTGGTCA	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.855C>A	13.37:g.49719949C>A		91	0		93	3	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	CCDS41886.1																																																																																			.		0.388	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		A	49719949	C	A	49719949	2	1	5	1	0	0	0	0	0	0	0	1	5991	668	24	3		3	FNDC3A	13	49719949	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	24655106	49719949	65449929	81	624											
SUGT1	10910	hgsc.bcm.edu	37	13	53250435	53250435	+	Missense_Mutation	SNP	C	C	T	rs371011852		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr13:53250435C>T	ENST00000343788.6	+	12	876	c.794C>T	c.(793-795)aCg>aTg	p.T265M	SUGT1_ENST00000310528.8_Missense_Mutation_p.T233M|SUGT1_ENST00000535397.1_Missense_Mutation_p.T177M	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	265					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GATGTGCCTACGCCAAAACAA	0.368																																					p.T265M		.											.	.	.	0			c.C794T						.	C	MET/THR,MET/THR	0,4406		0,0,2203	101	104	103		698,794	0	0	13		103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SUGT1	NM_006704.3,NM_001130912.1	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	233/334,265/366	53250435	1,13005	2203	4300	6503	SO:0001583	missense	10910	exon12			TGCCTACGCCAAA	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.794C>T	13.37:g.53250435C>T	ENSP00000367208:p.Thr265Met	43	0		48	4	NM_001130912	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	7.730	0.698971	0.15106	0.0	1.16E-4	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.25749	1.79;1.78	5.18	0.0141	0.14098	HSP20-like chaperone (1);	0.458238	0.25570	N	0.029762	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B;B;B	0.21753	0.029;0.011;0.06;0.018	B;B;B;B	0.19148	0.024;0.003;0.018;0.013	T	0.22382	-1.0218	10	0.48119	T	0.1	0.5222	9.1228	0.36797	0.4271:0.4666:0.0:0.1063	.	177;177;265;233	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	M	265;177;233	ENSP00000367208:T265M;ENSP00000308067:T233M	ENSP00000308067:T233M	T	+	2	0	SUGT1	52148436	0.163000	0.22920	0.000000	0.03702	0.498000	0.33706	1.603000	0.36794	0.106000	0.17784	-0.271000	0.10264	ACG	.		0.368	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			T	53250435	C	T	53250435	3	4	5	1	0	0	0	0	1	0	0	0	15416	536	19	1	840	1	SUGT1	13	53250435	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	3530486	53250435	61919443	82	625											
OTUD7A	161725	hgsc.bcm.edu	37	15	31794022	31794022	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr15:31794022C>T	ENST00000307050.4	-	8	1113	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G348R	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	341	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TAGATCCCTCCGAATGGGATG	0.612																																					p.G341R		.											OTUD7A,NS,malignant_melanoma,0,1	OTUD7A	0	0			c.G1021A						.						120	108	112					15																	31794022		2202	4300	6502	SO:0001583	missense	161725	exon8			TCCCTCCGAATGG	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1021G>A	15.37:g.31794022C>T	ENSP00000305926:p.Gly341Arg	41	0		34	2	NM_130901	Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869069	0.91587	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.31769	1.48;1.48	4.84	4.84	0.62591	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.80508	2.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66284	-0.5962	10	0.72032	D	0.01	-15.5	18.2918	0.90133	0.0:1.0:0.0:0.0	.	348;341	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	R	341;348	ENSP00000305926:G341R;ENSP00000372358:G348R	ENSP00000305926:G341R	G	-	1	0	OTUD7A	29581314	1.000000	0.71417	0.977000	0.42913	0.977000	0.68977	6.996000	0.76263	2.357000	0.79964	0.655000	0.94253	GGA	.		0.612	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		T	31794022	C	T	31794022	3	4	5	1	0	0	0	0	1	0	0	0	11357	661	23	1	1775	1	OTUD7A	15	31794022	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09		31794022	70737370	83	626											
EXD1	161829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	41483652	41483652	+	Silent	SNP	T	T	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr15:41483652T>C	ENST00000314992.5	-	8	868	c.678A>G	c.(676-678)caA>caG	p.Q226Q	RN7SL497P_ENST00000476341.2_RNA|EXD1_ENST00000458580.2_Silent_p.Q284Q	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	226							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GAATTAGTTTTTGTCTCTTTT	0.373																																					p.Q226Q		.											.	.	.	0			c.A678G						.						77	80	79					15																	41483652		2203	4300	6503	SO:0001819	synonymous_variant	161829	exon8			TAGTTTTTGTCTC	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.678A>G	15.37:g.41483652T>C		289	0		318	72	NM_152596	A8K909|B7Z839|Q6ZW94	Silent	SNP	ENST00000314992.5	37	CCDS10072.1																																																																																			.		0.373	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		C	41483652	T	C	41483652	2	2	5	1	0	0	0	0	0	0	0	1	5313	1838	64	4		4	EXD1	15	41483652	Silent	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09	9689630	41483652	61047740	84	627											
MGA	23269	hgsc.bcm.edu	37	15	41961679	41961679	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr15:41961679C>A	ENST00000570161.1	+	1	587	c.587C>A	c.(586-588)tCt>tAt	p.S196Y	MGA_ENST00000566586.1_Missense_Mutation_p.S196Y|MGA_ENST00000389936.4_Missense_Mutation_p.S196Y|MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.S196Y|MGA_ENST00000219905.7_Missense_Mutation_p.S196Y			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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.S196C(1)		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)	ATCTTGCACTCTATGCATCGT	0.448																																					p.S196Y		.											MGA,NS,carcinoma,0,2	MGA	0	1	Substitution - Missense(1)	lung(1)	c.C587A						.						168	166	166					15																	41961679		1978	4161	6139	SO:0001583	missense	23269	exon2			TGCACTCTATGCA	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.587C>A	15.37:g.41961679C>A	ENSP00000457035:p.Ser196Tyr	20	0		19	2	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344740	0.82022	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.91894	-2.93;-2.93;-2.93	5.93	5.93	0.95920	.	0.095329	0.85682	D	0.000000	D	0.97284	0.9112	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97481	1.0047	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	196;196	F5H7K2;E7ENI0	.;.	Y	196	ENSP00000219905:S196Y;ENSP00000374586:S196Y;ENSP00000442467:S196Y	ENSP00000219905:S196Y	S	+	2	0	MGA	39748971	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	TCT	.		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		A	41961679	C	A	41961679	3	1	5	1	0	0	0	0	1	0	0	0	9578	913	32	3	589	3	MGA	15	41961679	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	478027	41961679	60569713	85	628											
UBE2Q2	92912	bcgsc.ca	37	15	76183298	76183298	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr15:76183298G>A	ENST00000267938.4	+	11	1354	c.972G>A	c.(970-972)atG>atA	p.M324I	UBE2Q2_ENST00000569423.1_Missense_Mutation_p.M289I|UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.M308I	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	324					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						CGGTCATCATGCAAATAAATG	0.388																																					p.M324I													.	UBE2Q2	26	0			c.G972A						.						114	118	117					15																	76183298		2197	4294	6491	SO:0001583	missense	92912	exon11			CATCATGCAAATA	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.972G>A	15.37:g.76183298G>A	ENSP00000267938:p.Met324Ile	66	0		52	4	NM_173469	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	ENST00000267938.4	37	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186081	0.57909	.	.	ENSG00000140367	ENST00000267938;ENST00000426727	T	0.35973	1.28	5.2	4.26	0.50523	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	L	0.28054	0.825	0.80722	D	1	B;B;B	0.18610	0.029;0.007;0.007	B;B;B	0.21151	0.033;0.014;0.014	T	0.04650	-1.0936	10	0.48119	T	0.1	.	13.962	0.64185	0.0:0.0:0.8471:0.1529	.	308;308;324	E9PHD0;B7Z3Q2;Q8WVN8	.;.;UB2Q2_HUMAN	I	324;308	ENSP00000267938:M324I	ENSP00000267938:M324I	M	+	3	0	UBE2Q2	73970353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.530000	0.98051	1.141000	0.42275	0.460000	0.39030	ATG	.		0.388	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		A	76183298	G	A	76183298	3	1	5	1	0	0	0	0	1	0	0	0	16919	1319	46	3	1150	3	UBE2Q2	15	76183298	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	34221619	76183298	26348094	86	629											
ALPK3	57538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	85400849	85400849	+	Silent	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr15:85400849G>A	ENST00000258888.5	+	6	3653	c.3486G>A	c.(3484-3486)ctG>ctA	p.L1162L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1162					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)			TAGATTCCCTGAAGAACTACC	0.652																																					p.L1162L		.											.	.	.	0			c.G3486A						.						44	50	48					15																	85400849		2203	4299	6502	SO:0001819	synonymous_variant	57538	exon6			TTCCCTGAAGAAC	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.3486G>A	15.37:g.85400849G>A		35	0		30	4	NM_020778	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																			.		0.652	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85400849	G	A	85400849	2	1	5	1	0	0	0	0	0	0	0	1	546	1277	45	3		3	ALPK3	15	85400849	Silent	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	9217551	85400849	17130543	87	630											
ASB7	140460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	101170164	101170164	+	Missense_Mutation	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr15:101170164A>G	ENST00000332783.7	+	5	1519	c.734A>G	c.(733-735)tAt>tGt	p.Y245C	ASB7_ENST00000343276.4_Missense_Mutation_p.Y245C|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	245					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ACACGGAACTATGAAGGACAG	0.408																																					p.Y245C		.											.	.	.	0			c.A734G						.						94	89	91					15																	101170164		2203	4300	6503	SO:0001583	missense	140460	exon5			GGAACTATGAAGG		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"Ankyrin repeat domain containing"	17182	protein-coding gene	gene with protein product		615052	"ankyrin repeat and SOCS box-containing 7"				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.734A>G	15.37:g.101170164A>G	ENSP00000328327:p.Tyr245Cys	77	0		73	21	NM_024708	A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439849	0.63067	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.64803	-0.12;-0.12	5.53	5.53	0.82687	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.39397	1.21	0.80722	D	1	D;P	0.71674	0.998;0.904	D;P	0.73380	0.98;0.481	T	0.75022	-0.3464	10	0.72032	D	0.01	-11.2018	15.9682	0.79991	1.0:0.0:0.0:0.0	.	245;245	Q9H672;Q9H672-2	ASB7_HUMAN;.	C	245	ENSP00000328327:Y245C;ENSP00000339819:Y245C	ENSP00000328327:Y245C	Y	+	2	0	ASB7	98987687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.740000	0.91579	2.224000	0.72417	0.528000	0.53228	TAT	.		0.408	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		G	101170164	A	G	101170164	3	3	5	1	0	0	0	0	1	0	0	0	1029	449	16	4	740	4	ASB7	15	101170164	Missense_Mutation	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	15769315	101170164	1361228	88	631											
RUNDC2A	92017	hgsc.bcm.edu	37	16	12136879	12136879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr16:12136879G>T	ENST00000566228.1	+	5	442	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	125	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.E125K(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCCCTCAACGAACACTCCCT	0.662																																					p.E125X		.											RUNDC2A,NS,carcinoma,0,2	RUNDC2A	0	1	Substitution - Missense(1)	large_intestine(1)	c.G373T						.						38	32	34					16																	12136879		2197	4300	6497	SO:0001587	stop_gained	92017	exon5			CTCAACGAACACT	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.373G>T	16.37:g.12136879G>T	ENSP00000456480:p.Glu125*	50	0		42	2	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Nonsense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	35	5.559648	0.96514	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.6236	16.8321	0.85947	0.0:0.0:1.0:0.0	.	.	.	.	X	125	.	ENSP00000268271:E125X	E	+	1	0	RUNDC2A	12044380	1.000000	0.71417	0.972000	0.41901	0.948000	0.59901	9.354000	0.97083	2.555000	0.86185	0.462000	0.41574	GAA	.		0.662	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12136879	G	T	12136879	4	4	5	1	0	0	0	0	0	1	0	0	13788	1059	37	2	391	2	RUNDC2A	16	12136879	Nonsense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		12136879	78217874	89	632											
C16orf86	388284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67702138	67702138	+	Missense_Mutation	SNP	G	G	A	rs369814761	byFrequency	TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr16:67702138G>A	ENST00000403458.4	+	4	744	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	197										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GTACCAGTACGTCAACTATTG	0.672											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	3	0.000599042	0	0	5008	,	,		17886	0.002		0	False		,,,				2504	0.001				p.V197I		.											.	.	.	0			c.G589A						.	G	ILE/VAL	0,4380		0,0,2190	14	16	15		589	4.9	1	16		15	2,8584		0,2,4291	no	missense	C16orf86	NM_001012984.2	29	0,2,6481	AA,AG,GG		0.0233,0.0,0.0154	benign	197/318	67702138	2,12964	2190	4293	6483	SO:0001583	missense	388284	exon4			CAGTACGTCAACT		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.589G>A	16.37:g.67702138G>A	ENSP00000384117:p.Val197Ile	38	0	1101	33	8	NM_001012984	B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	G	6.613	0.481577	0.12581	0.0	2.33E-4	ENSG00000159761	ENST00000403458	.	.	.	5.95	4.86	0.63082	.	.	.	.	.	T	0.12050	0.0293	N	0.01168	-0.975	0.23657	N	0.997188	B	0.02656	0.0	B	0.01281	0.0	T	0.20739	-1.0266	8	0.02654	T	1	-5.1869	10.6841	0.45833	0.9268:0.0:0.0732:0.0	.	197	Q6ZW13	CP086_HUMAN	I	197	.	ENSP00000384117:V197I	V	+	1	0	C16orf86	66259639	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.183000	0.42565	1.064000	0.40671	-0.414000	0.06135	GTC	.		0.672	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		A	67702138	G	A	67702138	3	1	5	1	0	0	0	0	1	0	0	0	1844	1145	40	1	603	1	C16orf86	16	67702138	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	55565259	67702138	22652615	90	633											
CHMP1A	5119	hgsc.bcm.edu	37	16	89712424	89712425	+	3'UTR	INS	-	-	CCTT			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr16:89712424_89712425insCCTT	ENST00000397901.3	-	0	896_897				CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000253475.5_Frame_Shift_Ins_p.-207fs|CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000550102.1_3'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GAGGACAGGAGCCTTCCAGCAC	0.678																																					p.G207fs		.											.	.	.	0			c.621_622insAAGG						.																																			SO:0001624	3_prime_UTR_variant	5119	exon6			ACAGGAGCCTTCC	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.*50->AAGG	16.37:g.89712425_89712428dupCCTT		99	0		89	12	NM_001083314	A2RU09|Q14468|Q15779|Q96G31	Frame_Shift_Ins	INS	ENST00000397901.3	37	CCDS45552.1																																																																																			.		0.678	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		CCTT	89712425	-	CCTT	89712424	6	5	5	0	1	1	1	0	0	0	0	0	3359	958	34	0		0	CHMP1A	16	89712424	3'UTR	INS	-	TCGA-3X-AAVE-01A-11D-A417-09	22010286	89712424	642329	91	634											
EPN2	22905	ucsc.edu;bcgsc.ca	37	17	19186722	19186722	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr17:19186722G>T	ENST00000314728.5	+	3	774	c.290G>T	c.(289-291)cGg>cTg	p.R97L	EPN2_ENST00000571254.1_Missense_Mutation_p.R97L|EPN2_ENST00000347697.2_Missense_Mutation_p.R97L|EPN2_ENST00000395626.1_Missense_Mutation_p.R97L|EPN2_ENST00000395620.2_Missense_Mutation_p.R97L|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395618.3_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	97	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAGCAGTGCCGGGAGAACATC	0.557																																					p.R97L													.	EPN2	52	0			c.G290T						.						91	73	79					17																	19186722		2203	4300	6503	SO:0001583	missense	22905	exon3			AGTGCCGGGAGAA	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.290G>T	17.37:g.19186722G>T	ENSP00000320543:p.Arg97Leu	39	0		32	4	NM_148921	A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311071	0.81358	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.34	4.14	0.48551	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.099558	0.64402	D	0.000003	T	0.57770	0.2076	M	0.85197	2.74	0.40232	D	0.977858	D;D;P;P;D;P	0.58970	0.967;0.984;0.537;0.94;0.967;0.531	B;P;B;B;B;B	0.53549	0.324;0.729;0.287;0.324;0.324;0.212	T	0.65269	-0.6209	10	0.87932	D	0	-13.3618	3.9264	0.09265	0.3356:0.0:0.6644:0.0	.	97;97;97;97;97;97	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	L	97	ENSP00000261495:R97L;ENSP00000320543:R97L;ENSP00000378990:R97L;ENSP00000378982:R97L;ENSP00000378988:R97L	ENSP00000320543:R97L	R	+	2	0	EPN2	19127315	1.000000	0.71417	0.919000	0.36401	0.772000	0.43724	6.298000	0.72763	2.663000	0.90544	0.561000	0.74099	CGG	.		0.557	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		T	19186722	G	T	19186722	3	4	5	1	0	0	0	0	1	0	0	0	5202	1116	39	2	292	2	EPN2	17	19186722	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		19186722	62008488	92	635											
TMEM132E	124842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	32955682	32955682	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr17:32955682G>A	ENST00000321639.5	+	4	1157	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	277						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)		GCACTCAACAGCCACCGTGGA	0.612																																					p.A277T		.											.	.	.	0			c.G829A						.						57	45	49					17																	32955682		2203	4300	6503	SO:0001583	missense	124842	exon4			TCAACAGCCACCG	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.829G>A	17.37:g.32955682G>A	ENSP00000316532:p.Ala277Thr	46	0		47	8	NM_207313	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	g	14.16	2.452720	0.43531	.	.	ENSG00000181291	ENST00000321639	T	0.16196	2.36	4.86	4.86	0.63082	.	0.183125	0.48286	D	0.000186	T	0.17408	0.0418	L	0.37850	1.14	0.48696	D	0.999692	B	0.22541	0.071	B	0.28011	0.085	T	0.04811	-1.0925	10	0.27785	T	0.31	-34.3322	17.3609	0.87350	0.0:0.0:1.0:0.0	.	277	Q6IEE7	T132E_HUMAN	T	277	ENSP00000316532:A277T	ENSP00000316532:A277T	A	+	1	0	TMEM132E	29979795	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.635000	0.54309	2.410000	0.81850	0.290000	0.19541	GCC	.		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		A	32955682	G	A	32955682	3	1	5	1	0	0	0	0	1	0	0	0	16095	971	34	3	843	3	TMEM132E	17	32955682	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	13768960	32955682	48239528	93	636											
FAM38B	63895	bcgsc.ca	37	18	10718203	10718203	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr18:10718203C>T	ENST00000503781.3	-	34	4909	c.4910G>A	c.(4909-4911)gGa>gAa	p.G1637E	PIEZO2_ENST00000580640.1_Missense_Mutation_p.G1662E|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G1637E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1637					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)										GTTACCTGGTCCATCGGATTT	0.403																																					p.G1637E													.	.	.	0			c.G4910A						.						443	333	367					18																	10718203		692	1591	2283	SO:0001583	missense	63895	exon34			CCTGGTCCATCGG	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.4910G>A	18.37:g.10718203C>T	ENSP00000421377:p.Gly1637Glu	35	0		35	4	NM_022068	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	C	14.83	2.653258	0.47362	.	.	ENSG00000154864	ENST00000302079	T	0.71934	-0.61	5.38	5.38	0.77491	.	.	.	.	.	T	0.75459	0.3852	L	0.43923	1.385	0.80722	D	1	.	.	.	.	.	.	T	0.71424	-0.4597	7	0.32370	T	0.25	.	19.5036	0.95105	0.0:1.0:0.0:0.0	.	.	.	.	E	1637	ENSP00000303316:G1637E	ENSP00000303316:G1637E	G	-	2	0	FAM38B	10708203	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	4.910000	0.63321	2.672000	0.90937	0.650000	0.86243	GGA	.		0.403	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		T	10718203	C	T	10718203	3	4	5	1	0	0	0	0	1	0	0	0	5577	855	30	3	3424	3	FAM38B	18	10718203	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09		10718203	67359045	94	637											
C18orf34	374864	hgsc.bcm.edu	37	18	30926184	30926184	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr18:30926184C>T	ENST00000383096.3	-	9	831	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	CCDC178_ENST00000406524.2_Missense_Mutation_p.V217M|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.V217M|CCDC178_ENST00000300227.8_Missense_Mutation_p.V217M|CCDC178_ENST00000402325.1_Missense_Mutation_p.V217M|CCDC178_ENST00000579947.1_Missense_Mutation_p.V217M|CCDC178_ENST00000403303.1_Missense_Mutation_p.V217M			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	217																	CCTTTCTGCACAGCCAATGGG	0.323																																					p.V217M		.											C18orf34_ENST00000383096,rectum,carcinoma,+1,2	C18orf34_ENST00000383096	+1	0			c.G649A						.						100	100	100					18																	30926184		2203	4300	6503	SO:0001583	missense	374864	exon8			TCTGCACAGCCAA	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.649G>A	18.37:g.30926184C>T	ENSP00000372576:p.Val217Met	96	0		74	3	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380806	0.24944	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.62639	1.41;1.41;1.41;1.43;1.4;0.01	5.59	5.59	0.84812	.	.	.	.	.	T	0.72763	0.3501	L	0.45137	1.4	0.36139	D	0.846673	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.91635	0.999;0.971;0.971;0.971	T	0.74942	-0.3492	9	0.36615	T	0.2	-16.5976	16.5129	0.84290	0.0:1.0:0.0:0.0	.	217;217;217;217	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	M	217	ENSP00000385591:V217M;ENSP00000372576:V217M;ENSP00000300227:V217M;ENSP00000385867:V217M;ENSP00000385234:V217M;ENSP00000382130:V217M	ENSP00000300227:V217M	V	-	1	0	C18orf34	29180182	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.659000	0.61504	2.636000	0.89361	0.557000	0.71058	GTG	.		0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		T	30926184	C	T	30926184	3	4	5	1	0	0	0	0	1	0	0	0	1909	478	17	3	2014	3	C18orf34	18	30926184	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	20207981	30926184	47151064	95	638											
MED16	10025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	875282	875282	+	Missense_Mutation	SNP	T	T	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:875282T>C	ENST00000589119.1	-	9	1732	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	MED16_ENST00000269814.4_Missense_Mutation_p.D578G|MED16_ENST00000325464.1_Missense_Mutation_p.D578G|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000312090.6_Missense_Mutation_p.D578G|MED16_ENST00000395808.3_Missense_Mutation_p.D578G			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	578					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)		GGTCAGCCGGTCGCCGGGGCT	0.557																																					p.D578G		.											.	.	.	0			c.A1733G						.						57	64	62					19																	875282		2202	4298	6500	SO:0001583	missense	10025	exon10			AGCCGGTCGCCGG	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.1733A>G	19.37:g.875282T>C	ENSP00000464810:p.Asp578Gly	105	0		89	28	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.906102	0.72868	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D	0.69078	0.993;0.996;0.997;0.996;0.996;0.997	D;D;D;D;D;D	0.83275	0.984;0.993;0.994;0.993;0.993;0.996	T	0.66893	-0.5808	10	0.56958	D	0.05	-9.9511	12.9806	0.58562	0.0:0.0:0.0:1.0	.	166;578;578;578;578;578	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;.;MED16_HUMAN	G	578;578;578;578;509;434;339;337;296;578	ENSP00000325612:D578G;ENSP00000308528:D578G;ENSP00000379153:D578G;ENSP00000269814:D578G	ENSP00000269814:D578G	D	-	2	0	MED16	826282	1.000000	0.71417	0.991000	0.47740	0.517000	0.34286	7.241000	0.78201	1.664000	0.50801	0.459000	0.35465	GAC	.		0.557	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		C	875282	T	C	875282	3	2	5	1	0	0	0	0	1	0	0	0	9472	1667	58	4	928	4	MED16	19	875282	Missense_Mutation	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09		875282	58253701	96	639											
FBN3	84467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8150345	8150345	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:8150345C>T	ENST00000600128.1	-	56	7403	c.6989G>A	c.(6988-6990)cGg>cAg	p.R2330Q	FBN3_ENST00000270509.2_Missense_Mutation_p.R2330Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R2330Q			Q75N90	FBN3_HUMAN	fibrillin 3	2330	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						CCCCCAGCCCCGGCCACCCCC	0.697																																					p.R2330Q		.											.	.	.	0			c.G6989A						.						8	10	9					19																	8150345		2169	4238	6407	SO:0001583	missense	84467	exon55			CAGCCCCGGCCAC		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.6989G>A	19.37:g.8150345C>T	ENSP00000470498:p.Arg2330Gln	32	0		34	9	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831469	0.91036	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.93426	-3.22	4.72	4.72	0.59763	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	U	0.000001	D	0.95781	0.8627	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.94679	0.7863	10	0.29301	T	0.29	.	17.6552	0.88176	0.0:1.0:0.0:0.0	.	2330;436	Q75N90;Q6ZNB8	FBN3_HUMAN;.	Q	2330;436	ENSP00000270509:R2330Q	ENSP00000270509:R2330Q	R	-	2	0	FBN3	8056345	1.000000	0.71417	0.796000	0.32109	0.388000	0.30384	5.708000	0.68377	2.170000	0.68504	0.491000	0.48974	CGG	.		0.697	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8150345	C	T	8150345	3	4	5	1	0	0	0	0	1	0	0	0	5726	652	23	1	1476	1	FBN3	19	8150345	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	7275063	8150345	50978638	97	640											
ZNF136	7695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	12297963	12297963	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:12297963G>A	ENST00000343979.4	+	4	910	c.770G>A	c.(769-771)tGt>tAt	p.C257Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.C191Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	257					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)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TGTAAGGTATGTGGGAAACCC	0.383																																					p.C257Y		.											.	.	.	0			c.G770A						.						85	80	81					19																	12297963		2203	4300	6503	SO:0001583	missense	7695	exon4			AGGTATGTGGGAA	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.770G>A	19.37:g.12297963G>A	ENSP00000344162:p.Cys257Tyr	60	0		68	8	NM_003437		Missense_Mutation	SNP	ENST00000343979.4	37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083539	0.55861	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	D;D	0.85861	-2.04;-2.04	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92231	0.7536	M	0.91717	3.235	0.43835	D	0.99641	D	0.89917	1.0	D	0.87578	0.998	D	0.91502	0.5220	8	.	.	.	.	8.3513	0.32303	0.0:0.0:1.0:0.0	.	257	P52737	ZN136_HUMAN	Y	257;191	ENSP00000344162:C257Y;ENSP00000381617:C191Y	.	C	+	2	0	ZNF136	12158963	1.000000	0.71417	0.055000	0.19348	0.887000	0.51463	6.997000	0.76270	1.067000	0.40740	0.650000	0.86243	TGT	.		0.383	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		A	12297963	G	A	12297963	3	1	5	1	0	0	0	0	1	0	0	0	17774	1377	48	3	784	3	ZNF136	19	12297963	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	4147618	12297963	46831020	98	641											
RTBDN	83546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	12939521	12939521	+	Silent	SNP	T	T	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:12939521T>C	ENST00000458671.2	-	4	467	c.315A>G	c.(313-315)ctA>ctG	p.L105L	RTBDN_ENST00000592204.1_Silent_p.L115L|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000589272.1_Silent_p.L137L|RTBDN_ENST00000393233.2_Missense_Mutation_p.Y64C|RTBDN_ENST00000322912.5_Silent_p.L137L	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	105						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GTACCCCCAATAGCCGCAGGC	0.652																																					p.L137L		.											.	.	.	0			c.A411G						.						50	52	51					19																	12939521		2203	4300	6503	SO:0001819	synonymous_variant	83546	exon5			CCCCAATAGCCGC	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.315A>G	19.37:g.12939521T>C		36	0		23	7	NM_001270440	F1T0I8|Q9BWT5	Silent	SNP	ENST00000458671.2	37	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378168	0.42105	.	.	ENSG00000132026	ENST00000393233	T	0.41400	1.0	3.87	-7.75	0.01236	.	.	.	.	.	T	0.40932	0.1137	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55121	-0.8190	6	0.62326	D	0.03	.	12.3982	0.55397	0.0:0.214:0.6717:0.1143	.	.	.	.	C	64	ENSP00000376925:Y64C	ENSP00000376925:Y64C	Y	-	2	0	RTBDN	12800521	0.000000	0.05858	0.000000	0.03702	0.818000	0.46254	-1.991000	0.01478	-2.216000	0.00732	-0.460000	0.05396	TAT	.		0.652	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		C	12939521	T	C	12939521	2	2	5	1	0	0	0	0	0	0	0	1	13762	1393	49	4		4	RTBDN	19	12939521	Silent	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09	641558	12939521	46189462	99	642											
CYP4F3	4051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	15758064	15758064	+	Missense_Mutation	SNP	C	C	T	rs200536182	byFrequency	TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:15758064C>T	ENST00000221307.8	+	5	502	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CYP4F3_ENST00000586182.2_Missense_Mutation_p.T152M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.T152M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.T152M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	152					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						CGGATGCTGACGCCTGCCTTC	0.552													.|||	3	0.000599042	0	0	5008	,	,		18659	0		0	False		,,,				2504	0.0031				p.T152M		.											CYP4F3,NS,malignant_melanoma,0,1	CYP4F3	0	0			c.C455T						.	C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	80	85	83		455,455,455	3.4	1	19		83	1,8599		0,1,4299	no	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	152/521,152/521,152/521	15758064	1,13005	2203	4300	6503	SO:0001583	missense	4051	exon5			TGCTGACGCCTGC	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.455C>T	19.37:g.15758064C>T	ENSP00000221307:p.Thr152Met	85	0		57	9	NM_001199209	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	19.77	3.888447	0.72524	0.0	1.16E-4	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.70631	-0.5	3.4	3.4	0.38934	.	0.000000	0.64402	U	0.000001	D	0.88518	0.6458	H	0.98178	4.165	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.68353	0.957;0.957	D	0.91768	0.5425	10	0.72032	D	0.01	.	12.3049	0.54895	0.0:1.0:0.0:0.0	.	152;152	B7Z8Z3;Q08477	.;CP4F3_HUMAN	M	79;152	ENSP00000221307:T152M	ENSP00000221307:T152M	T	+	2	0	CYP4F3	15619064	1.000000	0.71417	0.992000	0.48379	0.894000	0.52154	4.899000	0.63245	1.715000	0.51383	0.436000	0.28706	ACG	.		0.552	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		T	15758064	C	T	15758064	3	4	5	1	0	0	0	0	1	0	0	0	4199	536	19	1	469	1	CYP4F3	19	15758064	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	2818543	15758064	43370919	100	643											
OR10H1	26539	broad.mit.edu	37	19	15918259	15918259	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:15918259C>T	ENST00000334920.2	-	1	677	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	197						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(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACGCCTTTGGCCACCACCAGC	0.562																																					p.A197T													.	OR10H1	59	0			c.G589A						.						190	146	161					19																	15918259		2203	4300	6503	SO:0001583	missense	26539	exon1			CTTTGGCCACCAC	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.589G>A	19.37:g.15918259C>T	ENSP00000335596:p.Ala197Thr	80	0		71	3	NM_013940	Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	3.797	-0.042567	0.07452	.	.	ENSG00000186723	ENST00000334920	T	0.00123	8.7	4.09	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.00073	0.0002	N	0.04018	-0.295	0.31270	N	0.691817	B	0.10296	0.003	B	0.17722	0.019	T	0.00171	-1.1960	10	0.11485	T	0.65	.	4.8697	0.13625	0.2098:0.6785:0.0:0.1116	.	197	Q9Y4A9	O10H1_HUMAN	T	197	ENSP00000335596:A197T	ENSP00000335596:A197T	A	-	1	0	OR10H1	15779259	0.056000	0.20664	0.811000	0.32455	0.012000	0.07955	0.389000	0.20751	0.385000	0.24970	-0.165000	0.13383	GCC	.		0.562	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			T	15918259	C	T	15918259	3	4	5	1	0	0	0	0	1	0	0	0	10944	739	26	3	371	3	OR10H1	19	15918259	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	160195	15918259	43210724	101	644											
ZNF208	7757	hgsc.bcm.edu	37	19	22154452	22154452	+	Silent	SNP	A	A	G			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1128					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.L1000L(2)|p.L1128L(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)				TATGTTTAGTAAGGATTGAGA	0.373																																					p.L1128L		.											ZNF208_ENST00000428290,right_lower_lobe,carcinoma,0,6	ZNF208_ENST00000428290	0	3	Substitution - coding silent(3)	lung(3)	c.T3384C						.						57	61	60					19																	22154452		2123	4245	6368	SO:0001819	synonymous_variant	7757	exon4			TTTAGTAAGGATT	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.3384T>C	19.37:g.22154452A>G		54	1		45	2	NM_007153		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																			.		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22154452	A	G	22154452	2	3	5	1	0	0	0	0	0	0	0	1	17814	349	13	4		4	ZNF208	19	22154452	Silent	SNP	A	TCGA-3X-AAVE-01A-11D-A417-09	6236193	22154452	36974531	102	645											
CYP2S1	29785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	41709463	41709463	+	Missense_Mutation	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:41709463G>A	ENST00000310054.4	+	7	1301	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	CYP2S1_ENST00000542619.1_Missense_Mutation_p.R87Q	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	362					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						GAGGCGCAGCGGCTGCTGGCG	0.682																																					p.R362Q		.											.	.	.	0			c.G1085A						.						27	24	25					19																	41709463		2191	4293	6484	SO:0001583	missense	29785	exon7			CGCAGCGGCTGCT	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.1085G>A	19.37:g.41709463G>A	ENSP00000308032:p.Arg362Gln	85	0		71	11	NM_030622	Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385031	0.95967	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	D;D	0.97480	-4.4;-4.4	5.02	5.02	0.67125	.	0.135740	0.47093	D	0.000247	D	0.98858	0.9614	H	0.94658	3.565	0.37100	D	0.899854	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99960	1.1716	10	0.87932	D	0	.	15.8828	0.79216	0.0:0.0:1.0:0.0	.	87;362	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	Q	362;362;87	ENSP00000308032:R362Q;ENSP00000445299:R87Q	ENSP00000301173:R362Q	R	+	2	0	CYP2S1	46401303	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.908000	0.87438	2.340000	0.79590	0.549000	0.68633	CGG	.		0.682	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			A	41709463	G	A	41709463	3	1	5	1	0	0	0	0	1	0	0	0	4183	1116	39	1	1111	1	CYP2S1	19	41709463	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	19555011	41709463	17419520	103	646											
CADM4	199731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	44130107	44130107	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:44130107C>A	ENST00000222374.2	-	6	759	c.711G>T	c.(709-711)gaG>gaT	p.E237D	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	237	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCGTGTCTCCCTCCCTCACCA	0.597																																					p.E237D		.											.	.	.	0			c.G711T						.						65	63	64					19																	44130107		2203	4300	6503	SO:0001583	missense	199731	exon6			GTCTCCCTCCCTC	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.711G>T	19.37:g.44130107C>A	ENSP00000222374:p.Glu237Asp	54	0		48	11	NM_145296	B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253215	0.59212	.	.	ENSG00000105767	ENST00000222374	T	0.15017	2.46	5.7	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.75884	2.315	0.39973	D	0.974819	D	0.63046	0.992	D	0.77004	0.989	T	0.28618	-1.0038	10	0.59425	D	0.04	.	8.6566	0.34066	0.0:0.8284:0.0:0.1716	.	237	Q8NFZ8	CADM4_HUMAN	D	237	ENSP00000222374:E237D	ENSP00000222374:E237D	E	-	3	2	CADM4	48821947	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.535000	0.45685	1.411000	0.46957	0.591000	0.81541	GAG	.		0.597	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		A	44130107	C	A	44130107	3	1	5	1	0	0	0	0	1	0	0	0	2576	680	24	3	471	3	CADM4	19	44130107	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	2420644	44130107	14998876	104	647											
FKRP	79147	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	47258782	47258782	+	Silent	SNP	G	G	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:47258782G>A	ENST00000318584.5	+	4	372	c.75G>A	c.(73-75)tcG>tcA	p.S25S	FKRP_ENST00000391909.3_Silent_p.S25S|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	25					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)		TCTATGTCTCGTGGCTGCAGC	0.697																																					p.S25S		.											.	.	.	0			c.G75A						.						13	14	13					19																	47258782		2193	4283	6476	SO:0001819	synonymous_variant	79147	exon4			TGTCTCGTGGCTG	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.75G>A	19.37:g.47258782G>A		110	0		78	15	NM_024301	A8K5G7	Silent	SNP	ENST00000318584.5	37	CCDS12691.1																																																																																			.		0.697	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		A	47258782	G	A	47258782	2	1	5	1	0	0	0	0	0	0	0	1	5939	1132	40	1		1	FKRP	19	47258782	Silent	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	3128675	47258782	11870201	105	648											
GRIN2D	2906	ucsc.edu;bcgsc.ca	37	19	48925062	48925062	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:48925062G>T	ENST00000263269.3	+	10	2200	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	704					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)	CCCAGGAGCAGTACCCGCCCC	0.587																																					p.Q704H													.	GRIN2D	76	0			c.G2112T						.						65	61	62					19																	48925062		2203	4300	6503	SO:0001583	missense	2906	exon10			GGAGCAGTACCCG	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.2112G>T	19.37:g.48925062G>T	ENSP00000263269:p.Gln704His	36	0		32	4	NM_000836		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777782	0.31502	.	.	ENSG00000105464	ENST00000263269	T	0.12984	2.63	4.57	0.714	0.18180	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.05456	0.0144	N	0.12182	0.205	0.40737	D	0.982792	B	0.18610	0.029	B	0.12156	0.007	T	0.37267	-0.9713	10	0.15952	T	0.53	.	4.9931	0.14224	0.3449:0.1555:0.4996:0.0	.	704	O15399	NMDE4_HUMAN	H	704	ENSP00000263269:Q704H	ENSP00000263269:Q704H	Q	+	3	2	GRIN2D	53616874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.714000	0.25808	0.411000	0.25702	0.655000	0.94253	CAG	.		0.587	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			T	48925062	G	T	48925062	3	4	5	1	0	0	0	0	1	0	0	0	6809	1020	36	3	2146	3	GRIN2D	19	48925062	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	1666280	48925062	10203921	106	649											
PPP1R15A	23645	hgsc.bcm.edu	37	19	49377974	49377974	+	Missense_Mutation	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:49377974C>T	ENST00000200453.5	+	2	1753	c.1484C>T	c.(1483-1485)gCt>gTt	p.A495V		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	495	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with KMT2A/MLL1.|Interaction with SMAD7.				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)		GAAGAGGAAGCTGCTGAGGAC	0.627																																					p.A495V		.											.	.	.	0			c.C1484T						.						78	74	75					19																	49377974		2203	4300	6503	SO:0001583	missense	23645	exon2			AGGAAGCTGCTGA	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.1484C>T	19.37:g.49377974C>T	ENSP00000200453:p.Ala495Val	83	0		64	4	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248259	0.59103	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05996	3.36	3.43	1.01	0.19927	.	1.116680	0.07067	N	0.834784	T	0.04588	0.0125	L	0.27053	0.805	0.09310	N	1	B	0.28636	0.218	B	0.27262	0.078	T	0.44682	-0.9312	10	0.30854	T	0.27	-1.1943	3.4275	0.07416	0.2519:0.6096:0.0:0.1385	.	495	O75807	PR15A_HUMAN	V	495;335;453	ENSP00000200453:A495V	ENSP00000200453:A495V	A	+	2	0	PPP1R15A	54069786	0.004000	0.15560	0.160000	0.22671	0.144000	0.21451	1.594000	0.36697	0.746000	0.32786	0.650000	0.86243	GCT	.		0.627	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		T	49377974	C	T	49377974	3	4	5	1	0	0	0	0	1	0	0	0	12405	797	28	3	1486	3	PPP1R15A	19	49377974	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	452912	49377974	9751009	107	650											
ZNF534	147658	bcgsc.ca	37	19	52941105	52941105	+	Missense_Mutation	SNP	G	G	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:52941105G>T	ENST00000332323.6	+	4	492	c.431G>T	c.(430-432)gGa>gTa	p.G144V	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.G131V|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	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)|lung(1)|prostate(1)|skin(1)	4						AATATTTATGGATGTAAGCAT	0.338																																					p.G144V													.	ZNF534	105	0			c.G431T						.						84	75	78					19																	52941105		1568	3581	5149	SO:0001583	missense	147658	exon4			TTTATGGATGTAA	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.431G>T	19.37:g.52941105G>T	ENSP00000327538:p.Gly144Val	45	0		47	4	NM_001143939	Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	G	8.787	0.929624	0.18131	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.06849	3.25;3.31	1.62	-1.88	0.07713	.	.	.	.	.	T	0.11324	0.0276	L	0.27053	0.805	0.09310	N	1	B;D	0.89917	0.045;1.0	B;D	0.91635	0.015;0.999	T	0.27971	-1.0058	9	0.30854	T	0.27	.	2.993	0.05989	0.5526:0.2477:0.1996:0.0	.	131;144	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	V	144;131;143	ENSP00000327538:G144V;ENSP00000391358:G131V	ENSP00000327538:G144V	G	+	2	0	ZNF534	57632917	0.000000	0.05858	0.022000	0.16811	0.291000	0.27294	0.126000	0.15769	-0.100000	0.12241	0.205000	0.17691	GGA	.		0.338	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		T	52941105	G	T	52941105	3	4	5	1	0	0	0	0	1	0	0	0	18021	1174	41	3	445	3	ZNF534	19	52941105	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09	3563131	52941105	6187878	108	651											
ZNF418	147686	hgsc.bcm.edu;bcgsc.ca	37	19	58437921	58437921	+	Missense_Mutation	SNP	C	C	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr19:58437921C>A	ENST00000396147.1	-	4	1919	c.1628G>T	c.(1627-1629)tGt>tTt	p.C543F	ZNF418_ENST00000595830.1_Missense_Mutation_p.C543F|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.C458F|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.C564F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	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)			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)		TGACTTTCCACATTCTCCACA	0.443																																					p.C543F		.											.	.	.	0			c.G1628T						.						87	90	89					19																	58437921		2189	4293	6482	SO:0001583	missense	147686	exon4			TTTCCACATTCTC	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.1628G>T	19.37:g.58437921C>A	ENSP00000379451:p.Cys543Phe	50	0		61	4	NM_133460	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878297	0.51801	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	D;D	0.85861	-2.04;-2.04	2.41	-0.123	0.13527	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.88153	0.6360	H	0.97659	4.05	0.30537	N	0.766844	P	0.44521	0.837	B	0.39971	0.315	D	0.84106	0.0398	9	0.87932	D	0	.	5.2005	0.15262	0.2007:0.6745:0.0:0.1248	.	543	Q8TF45	ZN418_HUMAN	F	543;564;509	ENSP00000379451:C543F;ENSP00000407039:C564F	ENSP00000379451:C543F	C	-	2	0	ZNF418	63129733	1.000000	0.71417	0.001000	0.08648	0.331000	0.28603	3.016000	0.49607	-0.077000	0.12752	0.313000	0.20887	TGT	.		0.443	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		A	58437921	C	A	58437921	3	1	5	1	0	0	0	0	1	0	0	0	17943	478	17	3	406	3	ZNF418	19	58437921	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	5496816	58437921	691062	109	652											
GZF1	64412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	23349409	23349409	+	Silent	SNP	T	T	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr20:23349409T>C	ENST00000338121.5	+	4	1547	c.1470T>C	c.(1468-1470)ccT>ccC	p.P490P	GZF1_ENST00000542987.1_5'UTR|GZF1_ENST00000377051.2_Silent_p.P490P|GZF1_ENST00000544236.1_Silent_p.P14P|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	490					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)					GTGAAAGACCTTTTATGTGTG	0.358																																					p.P490P		.											.	.	.	0			c.T1470C						.						99	95	97					20																	23349409		2203	4300	6503	SO:0001819	synonymous_variant	64412	exon3			AAGACCTTTTATG	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.1470T>C	20.37:g.23349409T>C		112	0		87	36	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	CCDS13151.1																																																																																			.		0.358	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		C	23349409	T	C	23349409	2	2	5	1	0	0	0	0	0	0	0	1	6941	1596	56	4		4	GZF1	20	23349409	Silent	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09		23349409	39676111	110	653											
BMP7	655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	55777538	55777538	+	Silent	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr20:55777538C>T	ENST00000395863.3	-	3	1258	c.753G>A	c.(751-753)acG>acA	p.T251T	BMP7_ENST00000395864.3_Silent_p.T251T|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.T251T	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	251					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)			CACCATCCAGCGTCTCCACCG	0.612																																					p.T251T		.											.	.	.	0			c.G753A						.						39	35	36					20																	55777538		2203	4300	6503	SO:0001819	synonymous_variant	655	exon3			ATCCAGCGTCTCC		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.753G>A	20.37:g.55777538C>T		23	0		21	4	NM_001719	Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	8.639	0.895543	0.17686	.	.	ENSG00000101144	ENST00000433911	.	.	.	4.78	-9.27	0.00659	.	.	.	.	.	T	0.33614	0.0869	.	.	.	0.48696	D	0.999691	.	.	.	.	.	.	T	0.39292	-0.9621	4	.	.	.	.	1.9545	0.03373	0.1933:0.2871:0.3309:0.1887	.	.	.	.	T	173	.	.	A	-	1	0	BMP7	55210945	0.016000	0.18221	0.488000	0.27440	0.921000	0.55340	-0.524000	0.06222	-2.380000	0.00594	-2.560000	0.00174	GCT	.		0.612	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			T	55777538	C	T	55777538	2	4	5	1	0	0	0	0	0	0	0	1	1467	755	27	1		1	BMP7	20	55777538	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	32428129	55777538	7247982	111	654											
C20orf151	140893	broad.mit.edu	37	20	60991830	60991830	+	Missense_Mutation	SNP	C	C	T	rs371268446		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr20:60991830C>T	ENST00000252998.1	-	5	455	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	100						extracellular space (GO:0005615)											GATGAAGATGCGCTGCAGGTT	0.682																																					p.R100H													C20orf151,colon,carcinoma,-1,1	.	.	0			c.G299A						.	C	HIS/ARG	1,4393		0,1,2196	61	54	56		299	-1.7	0	20		56	0,8584		0,0,4292	no	missense	C20orf151	NM_080833.2	29	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	benign	100/665	60991830	1,12977	2197	4292	6489	SO:0001583	missense	140893	exon5			AAGATGCGCTGCA	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.299G>A	20.37:g.60991830C>T	ENSP00000252998:p.Arg100His	47	0		41	3	NM_080833	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.001645	0.00431	2.28E-4	0.0	ENSG00000130701	ENST00000252998	T	0.14144	2.53	4.46	-1.69	0.08186	Tumour-suppressor protein CtIP N-terminal (1);	0.242516	0.41097	N	0.000951	T	0.03053	0.0090	N	0.00563	-1.375	0.23628	N	0.997256	B	0.02656	0.0	B	0.01281	0.0	T	0.41431	-0.9509	10	0.26408	T	0.33	-7.6853	9.7795	0.40640	0.0:0.3615:0.0:0.6385	.	100	Q8NC74	CT151_HUMAN	H	100	ENSP00000252998:R100H	ENSP00000252998:R100H	R	-	2	0	C20orf151	60425225	1.000000	0.71417	0.018000	0.16275	0.004000	0.04260	2.367000	0.44213	-0.841000	0.04200	-2.069000	0.00389	CGC	.		0.682	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		T	60991830	C	T	60991830	3	4	5	1	0	0	0	0	1	0	0	0	2098	768	27	1	1735	1	C20orf151	20	60991830	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	5214292	60991830	2033690	112	655											
COL20A1	57642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	61944199	61944199	+	Silent	SNP	C	C	A			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr20:61944199C>A	ENST00000358894.6	+	16	2089	c.1989C>A	c.(1987-1989)gtC>gtA	p.V663V	COL20A1_ENST00000326996.6_Silent_p.V663V|COL20A1_ENST00000422202.1_Silent_p.V670V|COL20A1_ENST00000435874.1_Silent_p.V670V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	663	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)					GGGATGCAGTCCAGCTGGCGT	0.662																																					p.V663V		.											.	.	.	0			c.C1989A						.						17	24	22					20																	61944199		1935	4116	6051	SO:0001819	synonymous_variant	57642	exon16			TGCAGTCCAGCTG	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.1989C>A	20.37:g.61944199C>A		32	0		34	9	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	CCDS46628.1																																																																																			.		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		A	61944199	C	A	61944199	2	1	5	1	0	0	0	0	0	0	0	1	3686	842	30	3		3	COL20A1	20	61944199	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	952369	61944199	1081321	113	656											
SEC14L4	284904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	30888052	30888052	+	Missense_Mutation	SNP	G	G	A	rs369641628		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr22:30888052G>A	ENST00000255858.7	-	9	838	c.755C>T	c.(754-756)cCc>cTc	p.P252L	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.P198L|SEC14L4_ENST00000540456.1_Missense_Mutation_p.P237L|SEC14L4_ENST00000381982.3_Missense_Mutation_p.P252L|RP4-539M6.14_ENST00000442126.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	252	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					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)	CAGGCACTTGGGGTTGCCATC	0.577																																					p.P252L		.											.	.	.	0			c.C755T						.	G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	40	44	43		755,755	4.3	1	22		43	0,8598		0,0,4299	no	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	98,98	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	252/361,252/407	30888052	1,13003	2203	4299	6502	SO:0001583	missense	284904	exon9			CACTTGGGGTTGC	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.755C>T	22.37:g.30888052G>A	ENSP00000255858:p.Pro252Leu	54	0		61	17	NM_001161368	A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.634092	0.87660	2.27E-4	0.0	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.3	4.3	0.51218	Cellular retinaldehyde-binding/triple function, C-terminal (2);GOLD (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.991	D;D;P	0.72338	0.915;0.977;0.86	T	0.66044	-0.6021	10	0.66056	D	0.02	-19.3994	16.9205	0.86163	0.0:0.0:1.0:0.0	.	198;237;252	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	L	252;237;198;252	ENSP00000255858:P252L;ENSP00000440848:P237L;ENSP00000376525:P198L;ENSP00000371412:P252L	ENSP00000255858:P252L	P	-	2	0	SEC14L4	29218052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.051000	0.93849	2.389000	0.81357	0.591000	0.81541	CCC	.		0.577	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		A	30888052	G	A	30888052	3	1	5	1	0	0	0	0	1	0	0	0	14029	1232	43	3	487	3	SEC14L4	22	30888052	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		30888052	20416514	114	657											
DUSP18	150290	hgsc.bcm.edu	37	22	31059695	31059695	+	Missense_Mutation	SNP	C	C	T	rs200346696		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr22:31059695C>T	ENST00000334679.3	-	2	801	c.296G>A	c.(295-297)cGt>cAt	p.R99H	DUSP18_ENST00000404885.1_Missense_Mutation_p.R99H|DUSP18_ENST00000403268.1_Silent_p.P62P|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R99H	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	99	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|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.R99H(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CAGCAAAGTACGGCCCTGCTT	0.577																																					p.R99H		.											DUSP18,caecum,carcinoma,0,1	DUSP18	0	1	Substitution - Missense(1)	large_intestine(1)	c.G296A						.	C	HIS/ARG	0,4406		0,0,2203	145	108	121		296	5.4	1	22		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP18	NM_152511.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	99/189	31059695	1,13005	2203	4300	6503	SO:0001583	missense	150290	exon2			AAAGTACGGCCCT	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.296G>A	22.37:g.31059695C>T	ENSP00000333917:p.Arg99His	40	0		34	3	NM_152511	B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	CCDS13883.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387570	0.61956	0.0	1.16E-4	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679;ENST00000342474	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.43	5.43	0.79202	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.100766	0.64402	N	0.000001	T	0.55386	0.1917	M	0.71296	2.17	0.80722	D	1	P	0.45428	0.858	B	0.33339	0.162	T	0.63580	-0.6605	10	0.45353	T	0.12	.	18.8532	0.92241	0.0:1.0:0.0:0.0	.	99	Q8NEJ0	DUS18_HUMAN	H	99	ENSP00000385463:R99H;ENSP00000386063:R99H;ENSP00000333917:R99H;ENSP00000340795:R99H	ENSP00000333917:R99H	R	-	2	0	DUSP18	29389695	1.000000	0.71417	0.998000	0.56505	0.708000	0.40852	1.523000	0.35932	2.547000	0.85894	0.655000	0.94253	CGT	0.001		0.577	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			T	31059695	C	T	31059695	3	4	5	1	0	0	0	0	1	0	0	0	4831	536	19	1	274	1	DUSP18	22	31059695	Missense_Mutation	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	171643	31059695	20244871	115	658											
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	42191438	42191438	+	Silent	SNP	T	T	C			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chr22:42191438T>C	ENST00000401548.3	+	29	3598	c.3558T>C	c.(3556-3558)agT>agC	p.S1186S	MEI1_ENST00000300398.4_Intron|MEI1_ENST00000400107.1_Silent_p.S519S|MEI1_ENST00000476893.1_3'UTR	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						GGAGTAGCAGTGTCCTCTCTC	0.542																																					p.S1186S		.											.	.	.	0			c.T3558C						.						156	158	157					22																	42191438		2041	4207	6248	SO:0001819	synonymous_variant	150365	exon29			TAGCAGTGTCCTC	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.3558T>C	22.37:g.42191438T>C		102	0		96	26	NM_152513		Silent	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	t	0.171	-1.071513	0.01918	.	.	ENSG00000167077	ENST00000423900	.	.	.	5.01	-4.66	0.03329	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	-18.1103	12.128	0.53926	0.0:0.3302:0.0:0.6698	.	.	.	.	R	5	.	.	C	+	1	0	MEI1	40521384	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-1.319000	0.02702	-1.224000	0.02581	-0.464000	0.05259	TGT	.		0.542	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		C	42191438	T	C	42191438	2	2	5	1	0	0	0	0	0	0	0	1	9503	1693	59	4		4	MEI1	22	42191438	Silent	SNP	T	TCGA-3X-AAVE-01A-11D-A417-09	11131743	42191438	9113128	116	659											
RBMX	27316	ucsc.edu	37	X	135958704	135958704	+	Missense_Mutation	SNP	G	G	C	rs112089728		TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chrX:135958704G>C	ENST00000320676.7	-	5	653	c.499C>G	c.(499-501)Cct>Gct	p.P167A	RBMX_ENST00000570135.1_Missense_Mutation_p.P32A|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000565438.1_Missense_Mutation_p.P39A|RBMX_ENST00000562646.1_Missense_Mutation_p.P167A	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	167					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P167A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGTCCTGAAGGTGCAGATCTC	0.453																																					p.P167A													.	RBMX	149	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C499G						.						122	109	113					X																	135958704		2203	4300	6503	SO:0001583	missense	27316	exon5			CTGAAGGTGCAGA		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.499C>G	X.37:g.135958704G>C	ENSP00000359645:p.Pro167Ala	34	4		52	14	NM_002139	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	19.40	3.820034	0.71028	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.79247	-1.25	5.52	5.52	0.82312	.	0.000000	0.85682	U	0.000000	T	0.74306	0.3699	L	0.53561	1.675	0.09310	P	0.999999244383	P;B	0.38335	0.627;0.162	B;B	0.32980	0.156;0.037	T	0.80574	-0.1322	9	0.62326	D	0.03	.	18.5809	0.91171	0.0:0.0:1.0:0.0	.	167;154	P38159;Q8N8Y7	HNRPG_HUMAN;.	A	167;154	ENSP00000359645:P167A	ENSP00000359645:P167A	P	-	1	0	RBMX	135786370	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	8.740000	0.91579	2.331000	0.79229	0.592000	0.82586	CCT	.		0.453	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		C	135958704	G	C	135958704	3	2	5	1	0	0	0	0	1	0	0	0	13196	1261	44	5	751	5	RBMX	23	135958704	Missense_Mutation	SNP	G	TCGA-3X-AAVE-01A-11D-A417-09		135958704	19311856	117	660											
CXorf1	9142	bcgsc.ca	37	X	144909307	144909307	+	Silent	SNP	C	C	T			TCGA-3X-AAVE-01A-11D-A417-09	TCGA-3X-AAVE-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	57584133-036a-4eab-9c63-c0fdd134ae42	36d5f070-dd59-4be0-85b4-ce3e1cb99d06	g.chrX:144909307C>T	ENST00000408967.2	+	1	380	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	38						integral component of membrane (GO:0016021)											AGCATCCCCACTGACTATATT	0.274																																					p.L38L													.	.	.	0			c.C112T						.						80	77	78					X																	144909307		2203	4300	6503	SO:0001819	synonymous_variant	9142	exon1			TCCCCACTGACTA	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"chromosome X open reading frame 1"	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.112C>T	X.37:g.144909307C>T		70	0		79	4	NM_004709	Q14CW0	Silent	SNP	ENST00000408967.2	37	CCDS14681.1																																																																																			.		0.274	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		T	144909307	C	T	144909307	2	4	5	1	0	0	0	0	0	0	0	1	4109	564	20	3		3	CXorf1	23	144909307	Silent	SNP	C	TCGA-3X-AAVE-01A-11D-A417-09	8950603	144909307	10361253	118	661											
ATAD3B	83858	hgsc.bcm.edu	37	1	1431002	1431002	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:1431002C>A	ENST00000308647.7	+	16	1868	c.1752C>A	c.(1750-1752)ccC>ccA	p.P584P		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	584						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)		TCGAGCACCCCCTATCCGGAG	0.647																																					p.P584P		.											ATAD3B,NS,carcinoma,0,1	ATAD3B	0	0			c.C1752A						.						43	44	44					1																	1431002		2203	4299	6502	SO:0001819	synonymous_variant	83858	exon16			GCACCCCCTATCC	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.1752C>A	1.37:g.1431002C>A		71	0		47	2	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	CCDS30.1																																																																																			.		0.647	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		A	1431002	C	A	1431002	2	1	6	1	0	0	0	0	0	0	0	1	1075	610	22	3		3	ATAD3B	1	1431002	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		1431002	247819619	1	662											
KIAA1751	85452	hgsc.bcm.edu	37	1	1887065	1887065	+	IGR	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:1887065C>A								TMEM52 (36353 upstream) : C1orf222 (32497 downstream)																							CCTCAGCCCCCTGGAATGCTG	0.597																																					p.Q747H		.											KIAA1751,colon,carcinoma,0,1	KIAA1751	0	0			c.G2241T						.						60	66	64					1																	1887065		1917	4100	6017	SO:0001628	intergenic_variant	85452	exon18			AGCCCCCTGGAAT																													1.37:g.1887065C>A		47	0		41	2	NM_001080484		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	C	9.902	1.207117	0.22205	.	.	ENSG00000142609	ENST00000270720	.	.	.	1.45	1.45	0.22620	.	1.015600	0.07994	U	0.987606	T	0.17023	0.0409	N	0.14661	0.345	0.18873	N	0.999984	D	0.53885	0.963	B	0.39706	0.307	T	0.15694	-1.0428	9	0.87932	D	0	.	6.2966	0.21089	0.0:1.0:0.0:0.0	.	747	Q9C0B2	K1751_HUMAN	H	747	.	ENSP00000270720:Q747H	Q	-	3	2	C1orf222	1876925	0.003000	0.15002	0.011000	0.14972	0.168000	0.22595	0.202000	0.17295	1.097000	0.41459	0.462000	0.41574	CAG	.	0	0.597									A	1887065	C	A	1887065	1	1	6	0	1	0	0	0	0	0	0	0	8283	680	24	3		3	KIAA1751	1	1887065	IGR	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	456063	1887065	247363556	2	663	2	2									
KIAA1751	85452	ucsc.edu;bcgsc.ca	37	1	1887067	1887067	+	IGR	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:1887067G>T								TMEM52 (36355 upstream) : C1orf222 (32495 downstream)																							TCAGCCCCCTGGAATGCTGCC	0.602																																					p.Q747K													KIAA1751,colon,carcinoma,+2,1	KIAA1751	92	0			c.C2239A						.						59	65	63					1																	1887067		1924	4104	6028	SO:0001628	intergenic_variant	339457	exon18			CCCCCTGGAATGC																													1.37:g.1887067G>T		50	0		42	4	NM_001080484		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	G	9.362	1.068289	0.20067	.	.	ENSG00000142609	ENST00000270720	.	.	.	1.45	1.45	0.22620	.	1.015600	0.07994	U	0.987606	T	0.18087	0.0434	N	0.08118	0	0.09310	N	0.999995	B	0.28128	0.201	B	0.18263	0.021	T	0.19063	-1.0317	9	0.87932	D	0	.	6.2966	0.21089	0.0:0.0:1.0:0.0	.	747	Q9C0B2	K1751_HUMAN	K	747	.	ENSP00000270720:Q747K	Q	-	1	0	C1orf222	1876927	0.013000	0.17824	0.005000	0.12908	0.142000	0.21351	2.234000	0.43035	1.097000	0.41459	0.462000	0.41574	CAG	.	0	0.602									T	1887067	G	T	1887067	1	4	6	0	1	0	0	0	0	0	0	0	8283	1357	47	3		3	KIAA1751	1	1887067	IGR	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2	1887067	247363554	3	664	2	2									
SPEN	23013	broad.mit.edu	37	1	16261510	16261510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:16261510delG	ENST00000375759.3	+	11	8979	c.8775delG	c.(8773-8775)cagfs	p.Q2925fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2925					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)		CTGTCACCCAGGGAGGCACAG	0.562																																					p.Q2925fs													.	SPEN	374	0			c.8775delG						.						57	56	57					1																	16261510		2203	4300	6503	SO:0001589	frameshift_variant	23013	exon11			CACCCAGGGAGGC		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.8775delG	1.37:g.16261510delG	ENSP00000364912:p.Gln2925fs	6	0		6	2	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	CCDS164.1																																																																																			.		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		-	16261510	G	-	16261510	7	5	6	1	0	1	0	1	0	0	0	0	15085	991	35	0	8817	0	SPEN	1	16261510	Frame_Shift_Del	DEL	G	TCGA-4G-AAZO-01A-12D-A417-09	14374443	16261510	232989111	4	665											
AKR7A2	8574	hgsc.bcm.edu	37	1	19632584	19632584	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:19632584G>T	ENST00000235835.3	-	6	867	c.846C>A	c.(844-846)gcC>gcA	p.A282A	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	282					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)	p.A282A(1)		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)		CGCCATATGCGGCCTGCAGGG	0.632																																					p.A282A		.											AKR7A2,colon,carcinoma,0,2	AKR7A2	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C846A						.						81	76	78					1																	19632584		2203	4300	6503	SO:0001819	synonymous_variant	8574	exon6			ATATGCGGCCTGC	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.846C>A	1.37:g.19632584G>T		24	0		25	2	NM_003689	O75749|Q5TG63	Silent	SNP	ENST00000235835.3	37	CCDS194.1																																																																																			.		0.632	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		T	19632584	G	T	19632584	2	4	6	1	0	0	0	0	0	0	0	1	475	1103	39	2		2	AKR7A2	1	19632584	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3371074	19632584	229618037	5	666											
ARID1A	8289	hgsc.bcm.edu	37	1	27107135	27107136	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:27107135_27107136insA	ENST00000324856.7	+	20	7117_7118	c.6746_6747insA	c.(6745-6750)tcagagfs	p.E2250fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.E2033fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.E578fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.E1867fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2250					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.(2287)fs(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)		GAGAACCACTCAGAGTTTACTC	0.515			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.S2249fs		.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.,2	.	842	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	c.6746_6747insA						.																																			SO:0001589	frameshift_variant	8289	exon20			ACCACTCAGAGTT	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.6747dupA	1.37:g.27107136_27107136dupA	ENSP00000320485:p.Glu2250fs	16	0		15	10	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	CCDS285.1																																																																																			.		0.515	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27107136	-	A	27107135	7	5	6	1	0	1	1	0	0	0	0	0	913	838	29	0	6824	0	ARID1A	1	27107135	Frame_Shift_Ins	INS	-	TCGA-4G-AAZO-01A-12D-A417-09	7474551	27107135	222143486	6	667											
PUM1	9698	hgsc.bcm.edu;bcgsc.ca	37	1	31467928	31467928	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:31467928C>A	ENST00000257075.5	-	6	953	c.860G>T	c.(859-861)gGg>gTg	p.G287V	PUM1_ENST00000440538.2_Missense_Mutation_p.G287V|PUM1_ENST00000423018.2_Missense_Mutation_p.G191V|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.G323V|PUM1_ENST00000373742.2_Missense_Mutation_p.G227V|PUM1_ENST00000426105.2_Missense_Mutation_p.G287V|PUM1_ENST00000373747.3_Missense_Mutation_p.G287V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	287					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGCATCAATCCCATTCTGCAC	0.373																																					p.G287V		.											.	.	.	0			c.G860T						.						344	316	326					1																	31467928		2203	4300	6503	SO:0001583	missense	9698	exon6			TCAATCCCATTCT	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.860G>T	1.37:g.31467928C>A	ENSP00000257075:p.Gly287Val	95	0		56	4	NM_014676	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.581741|4.581741	0.86748|0.86748	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952|ENST00000525843;ENST00000532678	T;T;T;T;T;T;T|.	0.52983|.	0.83;1.16;1.14;1.04;1.1;0.64;0.75|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77565|0.77565	0.4149|0.4149	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|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|.	0.97110|.	1.0;0.994;1.0;0.998;1.0;1.0;1.0|.	T|T	0.75758|0.75758	-0.3205|-0.3205	10|5	0.87932|.	D|.	0|.	-6.1631|-6.1631	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	227;191;323;287;287;287;287|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4|.	.;.;.;.;PUM1_HUMAN;.;.|.	V|C	287;287;287;287;323;191;227;287|303;8	ENSP00000257075:G287V;ENSP00000362852:G287V;ENSP00000391723:G287V;ENSP00000401777:G287V;ENSP00000362846:G323V;ENSP00000399440:G191V;ENSP00000362847:G227V|.	ENSP00000257075:G287V|.	G|W	-|-	2|3	0|0	PUM1|PUM1	31240515|31240515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.490000|6.490000	0.73645|0.73645	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GGG|TGG	.		0.373	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			A	31467928	C	A	31467928	3	1	6	1	0	0	0	0	1	0	0	0	12870	623	22	3	2774	3	PUM1	1	31467928	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4360793	31467928	217782693	7	668											
CTPS	1503	hgsc.bcm.edu	37	1	41450520	41450520	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:41450520G>T	ENST00000372621.4	+	3	702	c.194G>T	c.(193-195)gGg>gTg	p.G65V	CTPS1_ENST00000372616.1_Missense_Mutation_p.G65V|CTPS1_ENST00000543104.1_Missense_Mutation_p.G72V|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						GATGATGGTGGGGAAGTAGAC	0.438																																					p.G65V		.											.	.	.	0			c.G194T						.						248	236	240					1																	41450520		2203	4300	6503	SO:0001583	missense	1503	exon3			ATGGTGGGGAAGT	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.194G>T	1.37:g.41450520G>T	ENSP00000361704:p.Gly65Val	85	0		75	4	NM_001905		Missense_Mutation	SNP	ENST00000372621.4	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545794	0.65198	.	.	ENSG00000171793	ENST00000372621;ENST00000543104;ENST00000372616	T;T	0.48201	0.82;0.82	5.45	5.45	0.79879	CTP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.982;0.992	D	0.84565	0.0652	10	0.87932	D	0	.	17.8595	0.88777	0.0:0.0:1.0:0.0	.	72;65	B7Z9C4;P17812	.;PYRG1_HUMAN	V	65;72;65	ENSP00000361704:G65V;ENSP00000361699:G65V	ENSP00000361699:G65V	G	+	2	0	CTPS	41223107	1.000000	0.71417	0.999000	0.59377	0.123000	0.20343	9.391000	0.97249	2.545000	0.85829	0.650000	0.86243	GGG	.		0.438	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		T	41450520	G	T	41450520	3	4	6	1	0	0	0	0	1	0	0	0	4031	1232	43	3	200	3	CTPS	1	41450520	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	9982592	41450520	207800101	8	669											
SCP2	6342	hgsc.bcm.edu;bcgsc.ca	37	1	53453786	53453786	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:53453786G>T	ENST00000528311.1	+	10	1112	c.816G>T	c.(814-816)aaG>aaT	p.K272N	SCP2_ENST00000371513.5_Missense_Mutation_p.K309N|SCP2_ENST00000371514.3_Missense_Mutation_p.K353N|SCP2_ENST00000371509.4_Missense_Mutation_p.K309N|SCP2_ENST00000407246.2_Missense_Mutation_p.K329N	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						TGATTTCAAAGGGACACCCAC	0.368																																					p.K353N		.											.	.	.	0			c.G1059T						.						77	84	81					1																	53453786		2203	4300	6503	SO:0001583	missense	6342	exon11			TTCAAAGGGACAC	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.816G>T	1.37:g.53453786G>T	ENSP00000434132:p.Lys272Asn	90	0		67	4	NM_002979	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185757	0.78789	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.8	3.86	0.44501	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, conserved site (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.95298	0.8401	10	0.87932	D	0	-17.9719	7.9599	0.30066	0.2633:0.0:0.7367:0.0	.	329;309;353;309	C9JC79;A6NM69;P22307;Q6NXF4	.;.;NLTP_HUMAN;.	N	353;272;309;329;309	ENSP00000360569:K353N;ENSP00000434132:K272N;ENSP00000360564:K309N;ENSP00000384569:K329N;ENSP00000360568:K309N	ENSP00000360564:K309N	K	+	3	2	SCP2	53226374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.885000	0.39678	1.358000	0.45922	0.650000	0.86243	AAG	.		0.368	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		T	53453786	G	T	53453786	3	4	6	1	0	0	0	0	1	0	0	0	13979	991	35	3	1101	3	SCP2	1	53453786	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	12003266	53453786	195796835	9	670											
LRP8	7804	hgsc.bcm.edu;bcgsc.ca	37	1	53716447	53716447	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:53716447G>T	ENST00000306052.6	-	17	2692	c.2591C>A	c.(2590-2592)cCa>cAa	p.P864Q	LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	864					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						CCTGTAGACTGGGTTGTCAAA	0.463																																					p.P864Q		.											.	.	.	0			c.C2591A						.						345	287	307					1																	53716447		2203	4300	6503	SO:0001583	missense	7804	exon17			TAGACTGGGTTGT	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.2591C>A	1.37:g.53716447G>T	ENSP00000303634:p.Pro864Gln	37	0		35	4	NM_004631	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138170	0.94560	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.41	5.41	0.78517	.	.	.	.	.	T	0.59418	0.2192	M	0.86805	2.84	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;0.999;1.0;0.997;1.0;1.0	T	0.66670	-0.5865	9	0.87932	D	0	.	19.1903	0.93663	0.0:0.0:1.0:0.0	.	417;660;694;864;864;417	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	Q	864;864;417;660;694	ENSP00000303634:P864Q;ENSP00000360509:P864Q;ENSP00000437009:P417Q;ENSP00000346391:P660Q;ENSP00000334522:P694Q	ENSP00000303634:P864Q	P	-	2	0	LRP8	53489035	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	9.855000	0.99526	2.524000	0.85096	0.557000	0.71058	CCA	.		0.463	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		T	53716447	G	T	53716447	3	4	6	1	0	0	0	0	1	0	0	0	8998	1348	47	3	312	3	LRP8	1	53716447	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	262661	53716447	195534174	10	671											
LRP8	7804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	53730058	53730058	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:53730058C>T	ENST00000306052.6	-	10	1539	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	LRP8_ENST00000371454.2_Missense_Mutation_p.D480N|LRP8_ENST00000354412.3_Missense_Mutation_p.D351N|LRP8_ENST00000465675.1_Missense_Mutation_p.D33N|LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000347547.2_Missense_Mutation_p.D310N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	480					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						CTGGCCTTGTCCATGTAGGCG	0.567																																					p.D480N		.											.	.	.	0			c.G1438A						.						67	55	59					1																	53730058		2203	4300	6503	SO:0001583	missense	7804	exon10			CCTTGTCCATGTA	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.1438G>A	1.37:g.53730058C>T	ENSP00000303634:p.Asp480Asn	14	0		15	5	NM_004631	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.77|18.77	3.694360|3.694360	0.68386|0.68386	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547|ENST00000475501	D;D;D;D;D|.	0.95853|.	-3.83;-3.83;-3.83;-3.83;-3.83|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	.|.	.|.	.|.	.|.	T|.	0.50956|.	0.1646|.	N|N	0.16016|0.16016	0.355|0.355	0.50313|0.50313	D|D	0.999865|0.999865	B;P;B;D;P;B|.	0.76494|.	0.423;0.558;0.06;0.999;0.715;0.423|.	P;B;B;D;P;P|.	0.83275|.	0.455;0.342;0.118;0.996;0.612;0.455|.	T|.	0.45220|.	-0.9276|.	9|.	0.46703|.	T|.	0.11|.	.|.	18.7706|18.7706	0.91890|0.91890	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	33;351;310;480;480;33|.	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15|.	.;.;.;.;LRP8_HUMAN;.|.	N|X	480;480;33;351;310|168	ENSP00000303634:D480N;ENSP00000360509:D480N;ENSP00000437009:D33N;ENSP00000346391:D351N;ENSP00000334522:D310N|.	ENSP00000303634:D480N|.	D|W	-|-	1|3	0|0	LRP8|LRP8	53502646|53502646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	2.309000|2.309000	0.43699|0.43699	2.660000|2.660000	0.90430|0.90430	0.557000|0.557000	0.71058|0.71058	GAC|TGG	.		0.567	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		T	53730058	C	T	53730058	3	4	6	1	0	0	0	0	1	0	0	0	8998	855	30	3	1493	3	LRP8	1	53730058	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	13611	53730058	195520563	11	672											
C1orf175	374977	bcgsc.ca	37	1	55172120	55172120	+	Silent	SNP	C	C	A	rs368624796		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:55172120C>A	ENST00000421030.2	+	22	3862	c.3577C>A	c.(3577-3579)Cga>Aga	p.R1193R	MROH7-TTC4_ENST00000414150.2_Silent_p.R1193R|MROH7_ENST00000409996.1_Silent_p.R761R|MROH7_ENST00000454855.2_Silent_p.R711R	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1193						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAACACCCACCGAGACAGCGC	0.542																																					p.R1193R													.	.	.	0			c.C3577A						.						119	123	122					1																	55172120		1929	4144	6073	SO:0001819	synonymous_variant	374977	exon22			ACCCACCGAGACA	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.3577C>A	1.37:g.55172120C>A		25	0		18	3	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																			.		0.542	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		A	55172120	C	A	55172120	2	1	6	1	0	0	0	0	0	0	0	1	2023	644	23	2		2	C1orf175	1	55172120	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1442062	55172120	194078501	12	673											
COL11A1	1301	hgsc.bcm.edu	37	1	103540202	103540202	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:103540202G>T	ENST00000370096.3	-	4	935	c.623C>A	c.(622-624)aCa>aAa	p.T208K	COL11A1_ENST00000358392.2_Missense_Mutation_p.T208K|COL11A1_ENST00000512756.1_Missense_Mutation_p.T208K|COL11A1_ENST00000353414.4_Missense_Mutation_p.T208K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	208	Laminin G-like.				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.T208K(2)		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)		CAAAATCCTTGTTCCAAAAAC	0.338																																					p.T208K		.											COL11A1_ENST00000370096,NS,carcinoma,0,2	COL11A1_ENST00000370096	0	2	Substitution - Missense(2)	endometrium(2)	c.C623A						.						140	128	132					1																	103540202		2202	4300	6502	SO:0001583	missense	1301	exon4			ATCCTTGTTCCAA	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.623C>A	1.37:g.103540202G>T	ENSP00000359114:p.Thr208Lys	35	0		37	2	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079454	0.55753	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.73	4.81	0.61882	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.81802	2.56	0.58432	D	0.999998	P;P;P;P	0.46859	0.885;0.86;0.86;0.885	P;P;P;P	0.48770	0.589;0.453;0.453;0.589	T	0.83194	-0.0082	10	0.72032	D	0.01	.	16.0686	0.80907	0.0:0.0:0.8648:0.1352	.	208;208;208;208	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	K	208;208;208;208;208;135	ENSP00000359114:T208K;ENSP00000351163:T208K;ENSP00000302551:T208K;ENSP00000426533:T208K;ENSP00000408640:T208K;ENSP00000410177:T135K	ENSP00000302551:T208K	T	-	2	0	COL11A1	103312790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	1.389000	0.46526	0.650000	0.86243	ACA	.		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103540202	G	T	103540202	3	4	6	1	0	0	0	0	1	0	0	0	3674	1377	48	3	5210	3	COL11A1	1	103540202	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	48368082	103540202	145710419	13	674											
CELSR2	1952	hgsc.bcm.edu	37	1	109792751	109792751	+	Missense_Mutation	SNP	T	T	C	rs200277265		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:109792751T>C	ENST00000271332.3	+	1	111	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	17					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)		ccgccgccgctgctgctgctg	0.751																																					p.L17P	NSCLC(158;1285 2011 34800 34852 42084)	.											CELSR2,colon,carcinoma,0,1	CELSR2	0	0			c.T50C						.						8	10	9					1																	109792751		1799	3668	5467	SO:0001583	missense	1952	exon1			CGCCGCTGCTGCT	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.50T>C	1.37:g.109792751T>C	ENSP00000271332:p.Leu17Pro	6	1		7	4	NM_001408	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	5.977	0.364215	0.11296	.	.	ENSG00000143126	ENST00000271332	T	0.70631	-0.5	4.25	-3.77	0.04346	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	8	0.51188	T	0.08	.	1.1702	0.01823	0.161:0.339:0.1649:0.3351	.	17	Q9HCU4	CELR2_HUMAN	P	17	ENSP00000271332:L17P	ENSP00000271332:L17P	L	+	2	0	CELSR2	109594274	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	-0.618000	0.05578	-0.422000	0.07405	0.404000	0.27445	CTG	.		0.751	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		C	109792751	T	C	109792751	3	2	6	1	0	0	0	0	1	0	0	0	3229	1580	55	4	52	4	CELSR2	1	109792751	Missense_Mutation	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	6252549	109792751	139457870	14	675											
CSF1	1435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	110458281	110458281	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:110458281G>A	ENST00000329608.6	+	3	579	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369801.1_Missense_Mutation_p.C63Y|CSF1_ENST00000369802.3_Missense_Mutation_p.C63Y|CSF1_ENST00000420111.2_Missense_Mutation_p.C63Y|CSF1_ENST00000344188.5_Missense_Mutation_p.C63Y	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	63					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)		GAGACCTCGTGCCAAATTACA	0.493																																					p.C63Y		.											.	.	.	0			c.G188A						.						184	159	168					1																	110458281		2203	4300	6503	SO:0001583	missense	1435	exon3			CCTCGTGCCAAAT	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.188G>A	1.37:g.110458281G>A	ENSP00000327513:p.Cys63Tyr	56	0		72	13	NM_172210	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750790	0.31046	.	.	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	5.45	4.53	0.55603	Four-helical cytokine-like, core (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.71581	2.175	0.45995	D	0.998808	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.02728	-1.1118	10	0.66056	D	0.02	.	12.5667	0.56314	0.0:0.1672:0.8328:0.0	.	63;63;63	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	Y	70;22;63;63;63;22;63;63;63	ENSP00000434527:C70Y;ENSP00000431547:C22Y;ENSP00000349854:C63Y;ENSP00000342718:C63Y;ENSP00000327513:C63Y;ENSP00000433837:C22Y;ENSP00000358817:C63Y;ENSP00000407317:C63Y;ENSP00000358816:C63Y	ENSP00000327513:C63Y	C	+	2	0	CSF1	110259804	1.000000	0.71417	0.592000	0.28758	0.010000	0.07245	5.059000	0.64306	1.427000	0.47276	-0.315000	0.08773	TGC	.		0.493	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		A	110458281	G	A	110458281	3	1	6	1	0	0	0	0	1	0	0	0	3940	1319	46	3	198	3	CSF1	1	110458281	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	665530	110458281	138792340	15	676											
VPS45	11311	hgsc.bcm.edu	37	1	150054917	150054917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:150054917G>T	ENST00000369130.3	+	10	1600	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	VPS45_ENST00000369128.5_Nonsense_Mutation_p.E247*|VPS45_ENST00000535106.1_Nonsense_Mutation_p.E283*	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	352					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|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)			GGAGGTTTCAGAGGTTGAGCA	0.478																																					p.E352X		.											.	.	.	0			c.G1054T						.						117	114	115					1																	150054917		2203	4300	6503	SO:0001587	stop_gained	11311	exon10			GTTTCAGAGGTTG	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1054G>T	1.37:g.150054917G>T	ENSP00000358126:p.Glu352*	44	0		87	4	NM_007259	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Nonsense_Mutation	SNP	ENST00000369130.3	37	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	42	9.695620	0.99241	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2671	0.93993	0.0:0.0:1.0:0.0	.	.	.	.	X	352;247;227;283;283	.	ENSP00000358124:E247X	E	+	1	0	VPS45	148321541	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.616000	0.98359	2.788000	0.95919	0.650000	0.86243	GAG	.		0.478	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		T	150054917	G	T	150054917	4	4	6	1	0	0	0	0	0	1	0	0	17260	943	33	3	1092	3	VPS45	1	150054917	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	39596636	150054917	99195704	16	677											
GON4L	54856	hgsc.bcm.edu;bcgsc.ca	37	1	155732107	155732107	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:155732107C>A	ENST00000368331.1	-	23	4833	c.4785G>T	c.(4783-4785)cgG>cgT	p.R1595R	GON4L_ENST00000271883.5_Silent_p.R1595R|GON4L_ENST00000437809.1_Silent_p.R1595R|GON4L_ENST00000471341.1_5'Flank	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1595					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)					CCCGACTTCCCCGCTTGTTGC	0.542																																					p.R1595R		.											.	.	.	0			c.G4785T						.						69	68	68					1																	155732107		1992	4151	6143	SO:0001819	synonymous_variant	54856	exon23			ACTTCCCCGCTTG	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.4785G>T	1.37:g.155732107C>A		35	0		95	5	NM_001037533	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																				.		0.542	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155732107	C	A	155732107	2	1	6	1	0	0	0	0	0	0	0	1	6598	610	22	3		3	GON4L	1	155732107	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	5677190	155732107	93518514	17	678											
CASQ1	844	hgsc.bcm.edu;bcgsc.ca	37	1	160169648	160169648	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:160169648C>T	ENST00000368078.3	+	10	1188	c.992C>T	c.(991-993)cCa>cTa	p.P331L	CASQ1_ENST00000467691.1_Missense_Mutation_p.P52L|RP11-536C5.7_ENST00000418602.1_RNA|CASQ1_ENST00000368079.3_Missense_Mutation_p.P325L			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	331					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCTGGTCCCATACTGGGAG	0.498																																					p.P331L		.											.	.	.	0			c.C992T						.						177	149	159					1																	160169648		2203	4300	6503	SO:0001583	missense	844	exon10			TGGTCCCATACTG	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.992C>T	1.37:g.160169648C>T	ENSP00000357057:p.Pro331Leu	37	0		62	4	NM_001231	B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202672	0.79127	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151;ENST00000467691	T;T;T	0.73258	-0.73;-0.73;-0.73	5.17	4.25	0.50352	Thioredoxin-like fold (2);	0.053996	0.85682	D	0.000000	T	0.78368	0.4272	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.81042	-0.1112	10	0.52906	T	0.07	.	14.7726	0.69691	0.0:0.8545:0.1455:0.0	.	331	P31415	CASQ1_HUMAN	L	325;331;246;52	ENSP00000357058:P325L;ENSP00000357057:P331L;ENSP00000418051:P52L	ENSP00000357057:P331L	P	+	2	0	CASQ1	158436272	1.000000	0.71417	0.751000	0.31187	0.998000	0.95712	6.994000	0.76251	1.395000	0.46643	0.655000	0.94253	CCA	.		0.498	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		T	160169648	C	T	160169648	3	4	6	1	0	0	0	0	1	0	0	0	2687	594	21	3	1030	3	CASQ1	1	160169648	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4437541	160169648	89080973	18	679											
DNM3	26052	hgsc.bcm.edu	37	1	172061989	172061989	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:172061989C>T	ENST00000355305.5	+	13	1676	c.1519C>T	c.(1519-1521)Cac>Tac	p.H507Y	DNM3_ENST00000367733.2_Missense_Mutation_p.H507Y|DNM3_ENST00000367731.1_Missense_Mutation_p.H507Y|DNM3_ENST00000520906.1_Missense_Mutation_p.H507Y|DNM3_ENST00000358155.4_Missense_Mutation_p.H507Y			Q9UQ16	DYN3_HUMAN	dynamin 3	507					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGTCAGGTTCACAAGAAAAC	0.363																																					p.H507Y		.											.	.	.	0			c.C1519T						.						68	64	65					1																	172061989		1852	4087	5939	SO:0001583	missense	26052	exon13			CAGGTTCACAAGA	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1519C>T	1.37:g.172061989C>T	ENSP00000347457:p.His507Tyr	48	0		82	3	NM_001136127	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	C	12.60	1.987804	0.35036	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.93488	-3.05;-2.9;-3.06;-3.05;-3.23;-2.88	5.92	5.92	0.95590	.	0.427245	0.28671	N	0.014538	T	0.79353	0.4431	N	0.08118	0	0.36674	D	0.878687	B;B;B;B	0.30709	0.224;0.152;0.291;0.165	B;B;B;B	0.26969	0.068;0.04;0.064;0.075	T	0.81232	-0.1026	10	0.59425	D	0.04	.	12.8807	0.58015	0.1727:0.8272:0.0:0.0	.	507;507;507;507	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	Y	507;507;507;507;507;507;397	ENSP00000350876:H507Y;ENSP00000356707:H507Y;ENSP00000347457:H507Y;ENSP00000356705:H507Y;ENSP00000429701:H507Y;ENSP00000429416:H397Y	ENSP00000347457:H507Y	H	+	1	0	DNM3	170328612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.383000	0.44354	2.814000	0.96858	0.585000	0.79938	CAC	.		0.363	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		T	172061989	C	T	172061989	3	4	6	1	0	0	0	0	1	0	0	0	4687	826	29	3	1569	3	DNM3	1	172061989	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	11892341	172061989	77188632	19	680											
CDC73	79577	hgsc.bcm.edu	37	1	193094241	193094241	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:193094241G>T	ENST00000367435.3	+	2	315		c.e2-1			NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73						cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AATTATTTCAGGACTGGAAAG	0.348																																					.		.											CDC73,NS,carcinoma,0,1	CDC73	0	0			c.132-1G>T						.						111	109	110					1																	193094241		2203	4300	6503	SO:0001630	splice_region_variant	79577	exon2			ATTTCAGGACTGG	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.132-1G>T	1.37:g.193094241G>T		71	0		71	3	NM_024529	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Splice_Site	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833411	0.71258	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.108	0.93305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC73	191360864	1.000000	0.71417	0.995000	0.50966	0.778000	0.44026	9.546000	0.98097	2.512000	0.84698	0.591000	0.81541	.	.		0.348	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	Intron	T	193094241	G	T	193094241	5	4	6	1	0	0	0	0	0	0	1	0	3092	1014	35	3	137	3	CDC73	1	193094241	Splice_Site	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	21032252	193094241	56156380	20	681											
GOLT1A	127845	hgsc.bcm.edu	37	1	204170901	204170901	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:204170901C>A	ENST00000308302.3	-	3	341	c.156G>T	c.(154-156)ctG>ctT	p.L52L	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)			AGGTCTTCCTCAGGCCAATGA	0.592																																					p.L52L		.											GOLT1A,bladder,carcinoma,0,1	GOLT1A	0	0			c.G156T						.						116	120	119					1																	204170901		2203	4300	6503	SO:0001819	synonymous_variant	127845	exon3			CTTCCTCAGGCCA	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.156G>T	1.37:g.204170901C>A		39	0		38	2	NM_198447		Silent	SNP	ENST00000308302.3	37	CCDS1443.1																																																																																			.		0.592	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		A	204170901	C	A	204170901	2	1	6	1	0	0	0	0	0	0	0	1	6596	813	29	3		3	GOLT1A	1	204170901	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	11076660	204170901	45079720	21	682											
CR2	1380	ucsc.edu;bcgsc.ca	37	1	207649657	207649657	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:207649657G>T	ENST00000367058.3	+	14	2807	c.2618G>T	c.(2617-2619)gGa>gTa	p.G873V	CR2_ENST00000367057.3_Missense_Mutation_p.G932V|CR2_ENST00000458541.2_Missense_Mutation_p.G846V|CR2_ENST00000367059.3_Intron	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	873	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						TTTTCTCCTGGAATGTCAATC	0.527																																					p.G932V													.	CR2	164	0			c.G2795T						.						138	125	130					1																	207649657		2203	4300	6503	SO:0001583	missense	1380	exon15			CTCCTGGAATGTC	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.2618G>T	1.37:g.207649657G>T	ENSP00000356025:p.Gly873Val	34	0		28	4	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658635	0.67586	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	T;T;T	0.72725	-0.68;-0.68;-0.68	4.87	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.88610	0.6483	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91600	0.5294	9	0.87932	D	0	.	14.2451	0.65983	0.0:0.0:1.0:0.0	.	873;932	P20023;P20023-3	CR2_HUMAN;.	V	873;932;846	ENSP00000356025:G873V;ENSP00000356024:G932V;ENSP00000404222:G846V	ENSP00000356024:G932V	G	+	2	0	CR2	205716280	1.000000	0.71417	0.995000	0.50966	0.743000	0.42351	4.943000	0.63554	2.643000	0.89663	0.655000	0.94253	GGA	.		0.527	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		T	207649657	G	T	207649657	3	4	6	1	0	0	0	0	1	0	0	0	3849	1174	41	3	2853	3	CR2	1	207649657	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3478756	207649657	41600964	22	683											
C1orf74	148304	bcgsc.ca	37	1	209956321	209956321	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:209956321G>T	ENST00000294811.1	-	2	915	c.659C>A	c.(658-660)tCt>tAt	p.S220Y		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	220								p.S220Y(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GACACTAAAAGAATAGAGCAG	0.498																																					p.S220Y													C1orf74,rectum,carcinoma,0,1	C1orf74	30	1	Substitution - Missense(1)	large_intestine(1)	c.C659A						.						79	88	85					1																	209956321		2203	4300	6503	SO:0001583	missense	148304	exon2			CTAAAAGAATAGA	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.659C>A	1.37:g.209956321G>T	ENSP00000294811:p.Ser220Tyr	48	0		42	4	NM_152485		Missense_Mutation	SNP	ENST00000294811.1	37	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683102	0.88542	.	.	ENSG00000162757	ENST00000294811	T	0.62788	0.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82092	-0.0628	10	0.87932	D	0	-22.676	19.4121	0.94679	0.0:0.0:1.0:0.0	.	220	Q96LT6	CA074_HUMAN	Y	220	ENSP00000294811:S220Y	ENSP00000294811:S220Y	S	-	2	0	C1orf74	208022944	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.059000	0.93902	2.595000	0.87683	0.655000	0.94253	TCT	.		0.498	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		T	209956321	G	T	209956321	3	4	6	1	0	0	0	0	1	0	0	0	2065	942	33	3	154	3	C1orf74	1	209956321	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2306664	209956321	39294300	23	684											
CENPF	1063	bcgsc.ca	37	1	214820276	214820276	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:214820276G>A	ENST00000366955.3	+	13	7531	c.7363G>A	c.(7363-7365)Gca>Aca	p.A2455T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2551	2 X 177 AA tandem repeats.				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)		TGAGAGAGTGGCAGCCCTGCA	0.418																																					p.A2455T	Colon(80;575 1284 11000 14801 43496)												.	CENPF	321	0			c.G7363A						.						73	85	81					1																	214820276		2203	4300	6503	SO:0001583	missense	1063	exon13			AGAGTGGCAGCCC	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.7363G>A	1.37:g.214820276G>A	ENSP00000355922:p.Ala2455Thr	99	0		53	4	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	5.487	0.274791	0.10403	.	.	ENSG00000117724	ENST00000366955	T	0.03124	4.04	5.31	-2.65	0.06095	.	1.183190	0.06528	N	0.740998	T	0.04137	0.0115	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.48592	-0.9022	10	0.15499	T	0.54	.	8.2846	0.31922	0.4272:0.0:0.4766:0.0963	.	2551	P49454	CENPF_HUMAN	T	2455	ENSP00000355922:A2455T	ENSP00000355922:A2455T	A	+	1	0	CENPF	212886899	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.735000	0.04837	-1.821000	0.00599	GCA	.		0.418	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214820276	G	A	214820276	3	1	6	1	0	0	0	0	1	0	0	0	3238	1203	42	3	7409	3	CENPF	1	214820276	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	4863955	214820276	34430345	24	685											
WDR26	80232	hgsc.bcm.edu;bcgsc.ca	37	1	224605987	224605987	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:224605987G>T	ENST00000414423.2	-	6	1187	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.L185M	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	332						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)		TCTATAAGCAGAGACACAGAA	0.378																																					p.L332M		.											.	.	.	0			c.C994A						.						84	90	88					1																	224605987		2203	4300	6503	SO:0001583	missense	80232	exon6			TAAGCAGAGACAC	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.994C>A	1.37:g.224605987G>T	ENSP00000408108:p.Leu332Met	78	0		65	4	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587982	0.86851	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	T;T	0.76316	-1.01;-0.65	5.98	5.98	0.97165	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.90136	0.4210	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	332;316	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	M	332;185	ENSP00000408108:L332M;ENSP00000295024:L185M	ENSP00000295024:L185M	L	-	1	2	WDR26	222672610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.723000	0.74742	2.847000	0.97988	0.591000	0.81541	CTG	.		0.378	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		T	224605987	G	T	224605987	3	4	6	1	0	0	0	0	1	0	0	0	17332	933	33	3	1027	3	WDR26	1	224605987	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	9785711	224605987	24644634	25	686											
CAPN9	10753	broad.mit.edu	37	1	230928600	230928600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:230928600delT	ENST00000271971.2	+	17	1909	c.1796delT	c.(1795-1797)cttfs	p.L599fs	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L536fs|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Frame_Shift_Del_p.L573fs	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	599	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)				CTTTAGAACCTTTTCCTTCGG	0.532																																					p.L599fs													.	CAPN9	116	0			c.1796delT						.						140	144	143					1																	230928600		2203	4300	6503	SO:0001589	frameshift_variant	10753	exon17			AGAACCTTTTCCT	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.1796delT	1.37:g.230928600delT	ENSP00000271971:p.Leu599fs	19	0		6	2	NM_006615	B1APS1|B1AQI0|Q9NS74	Frame_Shift_Del	DEL	ENST00000271971.2	37	CCDS1586.1																																																																																			.		0.532	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		-	230928600	T	-	230928600	7	5	6	1	0	1	0	1	0	0	0	0	2639	1609	56	0	1862	0	CAPN9	1	230928600	Frame_Shift_Del	DEL	T	TCGA-4G-AAZO-01A-12D-A417-09	6322613	230928600	18322021	26	687											
LYST	1130	hgsc.bcm.edu	37	1	235827341	235827341	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:235827341C>A	ENST00000389794.3	-	52	11384	c.11210G>T	c.(11209-11211)tGg>tTg	p.W3737L	LYST_ENST00000389793.2_Missense_Mutation_p.W3737L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3737					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)		p.W3737L(1)		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)			CTTTAAGTCCCATGTGCTCCA	0.348																																					p.W3737L		.											.	.	.	1	Substitution - Missense(1)	lung(1)	c.G11210T						.						132	135	134					1																	235827341		2203	4300	6503	SO:0001583	missense	1130	exon52			AAGTCCCATGTGC	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.11210G>T	1.37:g.235827341C>A	ENSP00000374444:p.Trp3737Leu	79	0		77	4	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071100	0.93950	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.27557	1.66;1.66	5.97	5.97	0.96955	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	0.47893	0.1470	L	0.42686	1.345	0.80722	D	1	D	0.58620	0.983	P	0.60173	0.87	T	0.23691	-1.0181	10	0.52906	T	0.07	.	20.4171	0.99027	0.0:1.0:0.0:0.0	.	3737	Q99698	LYST_HUMAN	L	3737	ENSP00000374444:W3737L;ENSP00000374443:W3737L	ENSP00000374443:W3737L	W	-	2	0	LYST	233893964	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.759000	0.85235	2.832000	0.97577	0.585000	0.79938	TGG	.		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235827341	C	A	235827341	3	1	6	1	0	0	0	0	1	0	0	0	9164	595	21	3	203	3	LYST	1	235827341	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4898741	235827341	13423280	27	688											
LYST	1130	hgsc.bcm.edu	37	1	235878584	235878584	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr1:235878584C>T	ENST00000389794.3	-	42	9875	c.9701G>A	c.(9700-9702)gGc>gAc	p.G3234D	LYST_ENST00000389793.2_Missense_Mutation_p.G3234D|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3234	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				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)			ATAGTGGGAGCCATAGTGATA	0.463																																					p.G3234D		.											LYST,NS,carcinoma,0,1	LYST	0	0			c.G9701A						.						106	106	106					1																	235878584		2203	4300	6503	SO:0001583	missense	1130	exon42			TGGGAGCCATAGT	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.9701G>A	1.37:g.235878584C>T	ENSP00000374444:p.Gly3234Asp	59	0		30	2	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156672	0.94686	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66995	-0.24;-0.24	5.26	5.26	0.73747	BEACH domain (4);	0.047998	0.85682	D	0.000000	D	0.86855	0.6033	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90057	0.4153	10	0.66056	D	0.02	.	18.5007	0.90879	0.0:1.0:0.0:0.0	.	3234	Q99698	LYST_HUMAN	D	3234	ENSP00000374444:G3234D;ENSP00000374443:G3234D	ENSP00000374443:G3234D	G	-	2	0	LYST	233945207	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.457000	0.83068	0.460000	0.39030	GGC	.		0.463	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235878584	C	T	235878584	3	4	6	1	0	0	0	0	1	0	0	0	9164	739	26	3	1752	3	LYST	1	235878584	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	51243	235878584	13372037	28	689											
ADAM17	6868	hgsc.bcm.edu;bcgsc.ca	37	2	9661362	9661362	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:9661362C>A	ENST00000310823.3	-	8	1109	c.927G>T	c.(925-927)aaG>aaT	p.K309N		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	309	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)		CCCAAGCATCCTTTTCTTCAT	0.393																																					p.K309N		.											.	.	.	0			c.G927T						.						262	229	240					2																	9661362		2203	4300	6503	SO:0001583	missense	6868	exon8			AGCATCCTTTTCT	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.927G>T	2.37:g.9661362C>A	ENSP00000309968:p.Lys309Asn	59	0		74	4	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863236	0.71949	.	.	ENSG00000151694	ENST00000310823	D	0.86694	-2.16	5.53	2.72	0.32119	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.040994	0.85682	D	0.000000	T	0.81992	0.4940	N	0.26042	0.785	0.80722	D	1	P;P	0.49358	0.923;0.923	P;P	0.50825	0.651;0.651	T	0.76055	-0.3099	10	0.19590	T	0.45	.	10.2125	0.43150	0.0:0.6643:0.0:0.3357	.	309;309	B2RNB2;P78536	.;ADA17_HUMAN	N	309	ENSP00000309968:K309N	ENSP00000309968:K309N	K	-	3	2	ADAM17	9578813	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.548000	0.23314	0.815000	0.34398	0.555000	0.69702	AAG	.		0.393	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			A	9661362	C	A	9661362	3	1	6	1	0	0	0	0	1	0	0	0	238	680	24	3	1595	3	ADAM17	2	9661362	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		9661362	233538011	29	690											
NT5C1B	93034	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	18766068	18766068	+	Silent	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:18766068G>A	ENST00000359846.2	-	5	692	c.615C>T	c.(613-615)cgC>cgT	p.R205R	NT5C1B_ENST00000600945.1_Silent_p.R205R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R205R|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.R145R|RNU6-1215P_ENST00000384441.1_RNA	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	205					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)				TTTTGGTGCTGCGCCGGGAGC	0.711																																					p.R222R		.											.	.	.	0			c.C666T						.						18	21	20					2																	18766068		2195	4284	6479	SO:0001819	synonymous_variant	93034	exon5			GGTGCTGCGCCGG	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.615C>T	2.37:g.18766068G>A		93	0		67	23	NM_001199087	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1																																																																																			.		0.711	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			A	18766068	G	A	18766068	2	1	6	1	0	0	0	0	0	0	0	1	10725	1306	46	3		3	NT5C1B	2	18766068	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	9104706	18766068	224433305	30	691											
GPR113	165082	broad.mit.edu;bcgsc.ca	37	2	26536340	26536340	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:26536340T>C	ENST00000311519.1	-	9	1377	c.1378A>G	c.(1378-1380)Ata>Gta	p.I460V	GPR113_ENST00000541401.1_Missense_Mutation_p.I63V|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.I261V|GPR113_ENST00000421160.2_Missense_Mutation_p.I391V	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	460					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)					CTCCTCACTATGCCCCTCTTG	0.622																																					p.I460V													.	GPR113	134	0			c.A1378G						.						41	37	38					2																	26536340		2203	4300	6503	SO:0001583	missense	165082	exon9			TCACTATGCCCCT	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.1378A>G	2.37:g.26536340T>C	ENSP00000307831:p.Ile460Val	33	0		18	5	NM_001145168	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	T	6.523	0.464792	0.12402	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.51817	0.69;3.18;3.18;3.18	5.84	-7.17	0.01511	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	T	0.11324	0.0276	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.11329	0.006;0.006;0.0;0.0	T	0.20107	-1.0285	9	0.05620	T	0.96	-0.6797	4.1879	0.10407	0.1011:0.4362:0.1025:0.3602	.	391;261;460;63	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	V	63;261;391;460	ENSP00000445729:I63V;ENSP00000327396:I261V;ENSP00000388537:I391V;ENSP00000307831:I460V	ENSP00000307831:I460V	I	-	1	0	GPR113	26389844	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.088000	0.01359	-1.611000	0.01581	-0.366000	0.07423	ATA	.		0.622	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		C	26536340	T	C	26536340	3	2	6	1	0	0	0	0	1	0	0	0	6656	1464	51	4	1970	4	GPR113	2	26536340	Missense_Mutation	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	7770272	26536340	216663033	31	692											
GALNT14	79623	bcgsc.ca	37	2	31168651	31168651	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:31168651C>A	ENST00000349752.5	-	7	1379	c.740G>T	c.(739-741)gGg>gTg	p.G247V	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.G227V|GALNT14_ENST00000324589.5_Missense_Mutation_p.G252V|GALNT14_ENST00000356174.3_Missense_Mutation_p.G214V|GALNT14_ENST00000420311.2_Missense_Mutation_p.G212V	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	247					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(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CAACTCACCCCCTCTGAGCTC	0.502																																					p.G252V													.	GALNT14	103	0			c.G755T						.						88	69	75					2																	31168651		2203	4300	6503	SO:0001583	missense	79623	exon8			TCACCCCCTCTGA	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.740G>T	2.37:g.31168651C>A	ENSP00000288988:p.Gly247Val	68	0		56	4	NM_001253826	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281089	0.80692	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	4.85	4.85	0.62838	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	H	0.98276	4.19	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	0.91760	0.5419	10	0.87932	D	0	.	17.9284	0.88990	0.0:1.0:0.0:0.0	.	212;214;252;247;227	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	V	247;252;227;214;212;214	ENSP00000288988:G247V;ENSP00000314500:G252V;ENSP00000385435:G227V;ENSP00000348497:G214V;ENSP00000415514:G212V;ENSP00000406399:G214V	ENSP00000314500:G252V	G	-	2	0	GALNT14	31022155	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.215000	0.77966	2.407000	0.81776	0.455000	0.32223	GGG	.		0.502	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31168651	C	A	31168651	3	1	6	1	0	0	0	0	1	0	0	0	6237	623	22	3	954	3	GALNT14	2	31168651	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4632311	31168651	212030722	32	693											
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	32724972	32724972	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:32724972A>G	ENST00000421745.2	+	46	8961	c.8827A>G	c.(8827-8829)Aga>Gga	p.R2943G		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2943					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)					ATACAGTGCAAGAGTGTCTGT	0.403																																					p.R2943G	Pancreas(94;175 1509 16028 18060 45422)	.											.	.	.	0			c.A8827G						.						108	107	107					2																	32724972		2203	4300	6503	SO:0001583	missense	57448	exon46			AGTGCAAGAGTGT	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.8827A>G	2.37:g.32724972A>G	ENSP00000393596:p.Arg2943Gly	27	0		28	9	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629788	0.46944	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.13	3.93	0.45458	.	0.058487	0.64402	D	0.000002	T	0.64057	0.2564	L	0.50333	1.59	0.50467	D	0.99987	B	0.33694	0.421	B	0.30646	0.118	T	0.61023	-0.7146	10	0.22706	T	0.39	.	10.4159	0.44322	0.5864:0.4136:0.0:0.0	.	2943	Q9NR09	BIRC6_HUMAN	G	2943	ENSP00000393596:R2943G	ENSP00000393596:R2943G	R	+	1	2	BIRC6	32578476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.825000	0.55730	2.046000	0.60703	0.533000	0.62120	AGA	.		0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32724972	A	G	32724972	3	3	6	1	0	0	0	0	1	0	0	0	1440	64	3	4	9009	4	BIRC6	2	32724972	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	1556321	32724972	210474401	33	694											
AHSA2	9736	hgsc.bcm.edu;bcgsc.ca	37	2	61413903	61413903	+	IGR	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:61413903G>T	ENST00000398571.2	-	0	11357				AHSA2_ENST00000394457.3_Silent_p.L132L|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Silent_p.L141L|AHSA2_ENST00000357022.2_Silent_p.L132L	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						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)			CACTGCAGCTGACCCCCCTAA	0.338																																					p.L132L		.											.	.	.	0			c.G396T						.						39	41	40					2																	61413903		2201	4299	6500	SO:0001628	intergenic_variant	130872	exon6			GCAGCTGACCCCC	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		2.37:g.61413903G>T		95	0		56	4	NM_152392	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																			.		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61413903	G	T	61413903	1	4	6	0	1	0	0	0	0	0	0	0	419	1277	45	3		3	AHSA2	2	61413903	IGR	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	28688931	61413903	181785470	34	695											
APLF	200558	hgsc.bcm.edu	37	2	68765137	68765137	+	Missense_Mutation	SNP	G	G	A	rs139666972	byFrequency	TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:68765137G>A	ENST00000303795.4	+	7	1109	c.938G>A	c.(937-939)aGa>aAa	p.R313K	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	313				Missing (in Ref. 1; BAF83530). {ECO:0000305}.	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						GCCACTAAAAGAACACCACAT	0.388																																					p.R313K		.											.,7	.	69	0			c.G938A						.						84	75	78					2																	68765137		2203	4285	6488	SO:0001583	missense	200558	exon7			CTAAAAGAACACC	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.938G>A	2.37:g.68765137G>A	ENSP00000307004:p.Arg313Lys	43	1		42	4	NM_173545	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	.	2.207	-0.381684	0.04966	.	.	ENSG00000169621	ENST00000303795	T	0.23552	1.9	5.39	0.0457	0.14231	.	1.235800	0.05550	N	0.567293	T	0.13286	0.0322	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21280	-1.0250	10	0.02654	T	1	.	1.339	0.02150	0.3456:0.1431:0.3738:0.1375	.	313	Q8IW19	APLF_HUMAN	K	313	ENSP00000307004:R313K	ENSP00000307004:R313K	R	+	2	0	APLF	68618641	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	0.368000	0.20399	-0.045000	0.13468	0.557000	0.71058	AGA	.		0.388	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		A	68765137	G	A	68765137	3	1	6	1	0	0	0	0	1	0	0	0	776	942	33	3	964	3	APLF	2	68765137	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	7351234	68765137	174434236	35	696											
ZAP70	7535	hgsc.bcm.edu	37	2	98341665	98341665	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:98341665G>T	ENST00000264972.5	+	4	728	c.513G>T	c.(511-513)gaG>gaT	p.E171D	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.E45D	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	171	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						TGACGCGTGAGGAGGCCGAGC	0.642																																					p.E171D		.											.	.	.	0			c.G513T						.						54	49	51					2																	98341665		2203	4300	6503	SO:0001583	missense	7535	exon4			GCGTGAGGAGGCC	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.513G>T	2.37:g.98341665G>T	ENSP00000264972:p.Glu171Asp	44	0		45	3	NM_001079	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013461	0.35511	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.89196	-2.48;-2.48	5.33	2.37	0.29283	SH2 motif (5);	0.131736	0.33875	N	0.004478	T	0.72104	0.3419	N	0.11000	0.08	0.34191	D	0.672014	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.62558	-0.6829	10	0.22109	T	0.4	.	3.1931	0.06624	0.3209:0.0:0.4933:0.1857	.	171;45;171	B4E0E2;P43403-3;P43403	.;.;ZAP70_HUMAN	D	171;45	ENSP00000264972:E171D;ENSP00000411141:E45D	ENSP00000264972:E171D	E	+	3	2	ZAP70	97708097	0.887000	0.30362	0.981000	0.43875	0.971000	0.66376	-0.056000	0.11787	0.655000	0.30866	0.591000	0.81541	GAG	.		0.642	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			T	98341665	G	T	98341665	3	4	6	1	0	0	0	0	1	0	0	0	17563	991	35	3	519	3	ZAP70	2	98341665	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	29576528	98341665	144857708	36	697											
UXS1	80146	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	106761718	106761718	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:106761718C>T	ENST00000409501.3	-	6	442	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	UXS1_ENST00000283148.7_Missense_Mutation_p.V134M|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Missense_Mutation_p.V72M			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	129					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						CAGTGCTCCACGTTTCTCTTC	0.522																																					p.V134M		.											UXS1_ENST00000409501,NS,carcinoma,0,2	UXS1_ENST00000409501	0	0			c.G400A						.						103	103	103					2																	106761718		2021	4165	6186	SO:0001583	missense	80146	exon6			GCTCCACGTTTCT	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.385G>A	2.37:g.106761718C>T	ENSP00000387019:p.Val129Met	50	0		35	7	NM_001253875	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438564	0.96168	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96996	0.9019	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	D	0.97034	0.9752	10	0.87932	D	0	-9.4627	20.1381	0.98040	0.0:1.0:0.0:0.0	.	134;129	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	M	134;72;129;72	ENSP00000283148:V134M;ENSP00000438265:V72M;ENSP00000387019:V129M;ENSP00000399316:V72M	ENSP00000283148:V134M	V	-	1	0	UXS1	106128150	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	GTG	.		0.522	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		T	106761718	C	T	106761718	3	4	6	1	0	0	0	0	1	0	0	0	17158	536	19	1	917	1	UXS1	2	106761718	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	8420053	106761718	136437655	37	698											
CKAP2L	150468	bcgsc.ca	37	2	113513554	113513554	+	Splice_Site	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:113513554C>T	ENST00000302450.6	-	4	1472	c.1394G>A	c.(1393-1395)aGg>aAg	p.R465K	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Splice_Site_p.R300K	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	465						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						AGCAAAGTACCTTCGATCCTC	0.398																																					p.R465K													.	CKAP2L	54	0			c.G1394A						.						159	167	165					2																	113513554		2203	4300	6503	SO:0001630	splice_region_variant	150468	exon4			AAGTACCTTCGAT	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.1394+1G>A	2.37:g.113513554C>T		56	0		52	4	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326034	0.60743	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.22945	1.93;1.93	5.25	5.25	0.73442	.	0.095420	0.64402	N	0.000002	T	0.40815	0.1132	L	0.39467	1.215	0.35381	D	0.789927	B;D	0.76494	0.015;0.999	B;D	0.80764	0.016;0.994	T	0.35051	-0.9804	9	.	.	.	-19.9722	14.5237	0.67873	0.0:1.0:0.0:0.0	.	54;465	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	K	300;465	ENSP00000438763:R300K;ENSP00000305204:R465K	.	R	-	2	0	CKAP2L	113230025	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.266000	0.51569	2.890000	0.99128	0.585000	0.79938	AGG	.		0.398	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	Missense_Mutation	T	113513554	C	T	113513554	5	4	6	1	0	0	0	0	0	0	1	0	3450	695	24	3	867	3	CKAP2L	2	113513554	Splice_Site	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	6751836	113513554	129685819	38	699											
PTPN4	5775	hgsc.bcm.edu	37	2	120684190	120684190	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:120684190C>A	ENST00000263708.2	+	13	1789	c.1018C>A	c.(1018-1020)Caa>Aaa	p.Q340K		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	340					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)	p.Q340*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AACTGAAGTCCAATCAGTTCA	0.299																																					p.Q340K		.											PTPN4,NS,carcinoma,0,1	PTPN4	0	1	Substitution - Nonsense(1)	lung(1)	c.C1018A						.						105	114	111					2																	120684190		2203	4298	6501	SO:0001583	missense	5775	exon13			GAAGTCCAATCAG		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.1018C>A	2.37:g.120684190C>A	ENSP00000263708:p.Gln340Lys	58	0		58	3	NM_002830	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324151	0.81580	.	.	ENSG00000088179	ENST00000263708	D	0.93307	-3.2	4.75	4.75	0.60458	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.97056	0.9038	M	0.89095	3.005	0.80722	D	1	D	0.59357	0.985	D	0.67103	0.949	D	0.97489	1.0052	10	0.62326	D	0.03	.	18.2932	0.90137	0.0:1.0:0.0:0.0	.	340	P29074	PTN4_HUMAN	K	340	ENSP00000263708:Q340K	ENSP00000263708:Q340K	Q	+	1	0	PTPN4	120400660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.701000	0.74624	2.602000	0.87976	0.591000	0.81541	CAA	.		0.299	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			A	120684190	C	A	120684190	3	1	6	1	0	0	0	0	1	0	0	0	12835	595	21	3	1064	3	PTPN4	2	120684190	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	7170636	120684190	122515183	39	700											
EPB41L5	57669	hgsc.bcm.edu;bcgsc.ca	37	2	120925069	120925069	+	Silent	SNP	C	C	A	rs538183746		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:120925069C>A	ENST00000263713.5	+	23	2204	c.1990C>A	c.(1990-1992)Cgg>Agg	p.R664R	EPB41L5_ENST00000443902.2_Silent_p.R664R|EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000452780.1_Silent_p.R664R	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	664					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						GATCACACCCCGGTGGATTGT	0.343																																					p.R664R		.											EPB41L5,caecum,carcinoma,0,1	EPB41L5	0	0			c.C1990A						.						168	152	157					2																	120925069		2203	4300	6503	SO:0001819	synonymous_variant	57669	exon23			ACACCCCGGTGGA	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.1990C>A	2.37:g.120925069C>A		42	0		62	4	NM_020909	Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	CCDS2130.1																																																																																			.		0.343	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		A	120925069	C	A	120925069	2	1	6	1	0	0	0	0	0	0	0	1	5173	643	23	2		2	EPB41L5	2	120925069	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	240879	120925069	122274304	40	701											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	125320826	125320826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:125320826delG	ENST00000431078.1	+	11	2043	c.1679delG	c.(1678-1680)agcfs	p.S560fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	560	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CATGGAGGAAGCTGCTCCCAG	0.423																																					p.S560fs		.											.	.	.	0			c.1678delA						.						89	80	83					2																	125320826		1941	4146	6087	SO:0001589	frameshift_variant	129684	exon11			GAGGAAGCTGCTC	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.1679delG	2.37:g.125320826delG	ENSP00000399013:p.Ser560fs	50	0		42	16	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	ENST00000431078.1	37	CCDS46401.1																																																																																			.		0.423	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			-	125320826	G	-	125320826	7	5	6	1	0	1	0	1	0	0	0	0	3657	971	34	0	1721	0	CNTNAP5	2	125320826	Frame_Shift_Del	DEL	G	TCGA-4G-AAZO-01A-12D-A417-09	4395757	125320826	117878547	41	702											
NEB	4703	bcgsc.ca	37	2	152354773	152354773	+	Intron	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:152354773C>T	ENST00000172853.10	-	140	18973				NEB_ENST00000498015.2_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000397336.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Intron			P20929	NEBU_HUMAN	nebulin						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)		TTCCAAAATACCGAGCTAAGG	0.378																																					.													.	NEB	1697	0			c.24207+1G>A						.						227	171	188					2																	152354773		692	1591	2283	SO:0001627	intron_variant	4703	exon171			AAAATACCGAGCT	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.18826-1891G>A	2.37:g.152354773C>T		83	0		66	4	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.413641	0.83449	.	.	ENSG00000183091	ENST00000397337;ENST00000397345;ENST00000427231;ENST00000397336;ENST00000421461	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5173	0.90939	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152063019	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.015000	0.70791	2.805000	0.96524	0.655000	0.94253	.	.		0.378	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152354773	C	T	152354773	1	4	6	0	1	0	0	0	0	0	0	0	10341	521	18	3		3	NEB	2	152354773	Intron	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	27033947	152354773	90844600	42	703											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	152547337	152547337	+	Missense_Mutation	SNP	A	A	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:152547337A>T	ENST00000172853.10	-	24	2361	c.2214T>A	c.(2212-2214)caT>caA	p.H738Q	NEB_ENST00000397345.3_Missense_Mutation_p.H738Q|NEB_ENST00000604864.1_Missense_Mutation_p.H738Q|NEB_ENST00000427231.2_Missense_Mutation_p.H738Q|NEB_ENST00000603639.1_Missense_Mutation_p.H738Q|NEB_ENST00000409198.1_Missense_Mutation_p.H738Q			P20929	NEBU_HUMAN	nebulin	738					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)		CTTTGTAGGTATGCTAGAAAA	0.363																																					p.H738Q		.											.	.	.	0			c.T2214A						.						102	97	99					2																	152547337		1896	4111	6007	SO:0001583	missense	4703	exon24			GTAGGTATGCTAG	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.2214T>A	2.37:g.152547337A>T	ENSP00000172853:p.His738Gln	63	0		44	11	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	15.71	2.912553	0.52439	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05199	3.48;3.49;3.49;3.48	5.04	-1.37	0.09056	.	0.000000	0.56097	D	0.000029	T	0.07234	0.0183	L	0.54323	1.7	0.80722	D	1	B;B	0.32893	0.146;0.389	B;B	0.37451	0.07;0.25	T	0.31166	-0.9953	10	0.25106	T	0.35	.	10.4345	0.44428	0.5035:0.0:0.4965:0.0	.	371;738	Q86TG3;P20929	.;NEBU_HUMAN	Q	738	ENSP00000386259:H738Q;ENSP00000380505:H738Q;ENSP00000416578:H738Q;ENSP00000172853:H738Q	ENSP00000172853:H738Q	H	-	3	2	NEB	152255583	0.983000	0.35010	0.999000	0.59377	0.876000	0.50452	0.254000	0.18314	-0.023000	0.13963	0.260000	0.18958	CAT	.		0.363	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152547337	A	T	152547337	3	4	6	1	0	0	0	0	1	0	0	0	10341	446	16	5	24108	5	NEB	2	152547337	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	192564	152547337	90652036	43	704											
SCN2A	6326	hgsc.bcm.edu	37	2	166170618	166170618	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:166170618G>T	ENST00000375437.2	+	10	1673	c.1383G>T	c.(1381-1383)caG>caT	p.Q461H	SCN2A_ENST00000375427.2_Splice_Site_p.Q461H|SCN2A_ENST00000357398.3_Splice_Site_p.Q461H|SCN2A_ENST00000283256.6_Splice_Site_p.Q461H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	461					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)	p.Q461Q(1)		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)	AAGAAGCTCAGGTATAGTGAA	0.398																																					p.Q461H		.											SCN2A_ENST00000375437,colon,carcinoma,0,5	SCN2A_ENST00000375437	0	1	Substitution - coding silent(1)	ovary(1)	c.G1383T						.						50	48	49					2																	166170618		2202	4299	6501	SO:0001630	splice_region_variant	6326	exon9			AGCTCAGGTATAG	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.1383+1G>T	2.37:g.166170618G>T		31	0		23	2	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279553	0.80692	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96651	-4.08;-4.0;-4.0;-4.0;-4.0	5.77	5.77	0.91146	.	0.303220	0.29321	N	0.012497	D	0.97617	0.9219	L	0.53729	1.69	0.80722	D	1	P;D	0.71674	0.785;0.998	P;D	0.81914	0.753;0.995	D	0.97722	1.0197	10	0.62326	D	0.03	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	461;461	Q99250-2;Q99250	.;SCN2A_HUMAN	H	461	ENSP00000406454:Q461H;ENSP00000364586:Q461H;ENSP00000349973:Q461H;ENSP00000283256:Q461H;ENSP00000364576:Q461H	ENSP00000283256:Q461H	Q	+	3	2	SCN2A	165878864	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.968000	0.87980	2.885000	0.99019	0.655000	0.94253	CAG	.		0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	Missense_Mutation	T	166170618	G	T	166170618	5	4	6	1	0	0	0	0	0	0	1	0	13961	1014	35	3	1513	3	SCN2A	2	166170618	Splice_Site	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	13623281	166170618	77028755	44	705											
DFNB59	494513	hgsc.bcm.edu	37	2	179325879	179325879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:179325879G>T	ENST00000409117.3	+	7	1293	c.937G>T	c.(937-939)Gga>Tga	p.G313*	DFNB59_ENST00000375129.4_Nonsense_Mutation_p.G313*	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	313					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CATACTCTGTGGAATGGGGAA	0.418																																					p.G313X		.											DFNB59,NS,carcinoma,0,1	DFNB59	0	0			c.G937T						.						186	170	175					2																	179325879		1857	4113	5970	SO:0001587	stop_gained	494513	exon7			CTCTGTGGAATGG	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.937G>T	2.37:g.179325879G>T	ENSP00000386647:p.Gly313*	60	0		48	2	NM_001042702	A0PK14|B9EJE2	Nonsense_Mutation	SNP	ENST00000409117.3	37	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375129	0.95923	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.5847	19.978	0.97315	0.0:0.0:1.0:0.0	.	.	.	.	X	313	.	ENSP00000364271:G313X	G	+	1	0	DFNB59	179034125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.733000	0.93635	0.557000	0.71058	GGA	.		0.418	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			T	179325879	G	T	179325879	4	4	6	1	0	0	0	0	0	1	0	0	4470	1349	47	3	959	3	DFNB59	2	179325879	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	13155261	179325879	63873494	45	706											
ZNF804A	91752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	185802286	185802286	+	Silent	SNP	T	T	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:185802286T>A	ENST00000302277.6	+	4	2757	c.2163T>A	c.(2161-2163)acT>acA	p.T721T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	721							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						ATTCTAGAACTTACTGTTGTT	0.323																																					p.T721T		.											.	.	.	0			c.T2163A						.						55	52	53					2																	185802286		2203	4295	6498	SO:0001819	synonymous_variant	91752	exon4			TAGAACTTACTGT	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.2163T>A	2.37:g.185802286T>A		42	0		39	9	NM_194250	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																			.		0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185802286	T	A	185802286	2	1	6	1	0	0	0	0	0	0	0	1	18218	1596	56	5		5	ZNF804A	2	185802286	Silent	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	6476407	185802286	57397087	46	707											
DNAH7	56171	hgsc.bcm.edu	37	2	196671535	196671535	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:196671535G>T	ENST00000312428.6	-	54	10205	c.10105C>A	c.(10105-10107)Cct>Act	p.P3369T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3369					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						CATTCTTCAGGGAAAACCTCA	0.338																																					p.P3369T		.											.	.	.	0			c.C10105A						.						129	115	119					2																	196671535		1845	4089	5934	SO:0001583	missense	56171	exon54			CTTCAGGGAAAAC	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.10105C>A	2.37:g.196671535G>T	ENSP00000311273:p.Pro3369Thr	111	0		72	4	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657674	0.88154	.	.	ENSG00000118997	ENST00000312428	T	0.17370	2.28	5.53	5.53	0.82687	Dynein heavy chain (1);	0.113777	0.33457	U	0.004886	T	0.58424	0.2121	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71210	-0.4660	10	0.72032	D	0.01	.	19.2483	0.93912	0.0:0.0:1.0:0.0	.	3369	Q8WXX0	DYH7_HUMAN	T	3369	ENSP00000311273:P3369T	ENSP00000311273:P3369T	P	-	1	0	DNAH7	196379780	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.922000	0.92789	2.882000	0.98803	0.655000	0.94253	CCT	.		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196671535	G	T	196671535	3	4	6	1	0	0	0	0	1	0	0	0	4620	1232	43	3	2017	3	DNAH7	2	196671535	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	10869249	196671535	46527838	47	708											
SF3B1	23451	hgsc.bcm.edu	37	2	198269868	198269868	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:198269868C>A	ENST00000335508.6	-	11	1562	c.1471G>T	c.(1471-1473)Gag>Tag	p.E491*	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	491	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)			TCTTTTTGCTCTTCTGGACTA	0.299			Mis		myelodysplastic syndrome																																p.E491X		.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	.	.	.	0			c.G1471T						.						54	56	55					2																	198269868		2202	4297	6499	SO:0001587	stop_gained	23451	exon11			TTTGCTCTTCTGG	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.1471G>T	2.37:g.198269868C>A	ENSP00000335321:p.Glu491*	66	0		63	4	NM_012433	E9PCH3	Nonsense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	38	7.057910	0.98032	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9254	0.97100	0.0:1.0:0.0:0.0	.	.	.	.	X	491	.	ENSP00000335321:E491X	E	-	1	0	SF3B1	197978113	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.707000	0.84623	2.710000	0.92621	0.655000	0.94253	GAG	.		0.299	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			A	198269868	C	A	198269868	4	1	6	1	0	0	0	0	0	1	0	0	14194	922	32	3	2503	3	SF3B1	2	198269868	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1598333	198269868	44929505	48	709											
PLEKHM3	389072	hgsc.bcm.edu	37	2	208866251	208866251	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:208866251C>A	ENST00000427836.2	-	2	602	c.113G>T	c.(112-114)gGg>gTg	p.G38V	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.G38V|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.G38V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	38					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						TTCCTGGATCCCATAAACCTC	0.483																																					p.G38V		.											.,2	.	101	0			c.G113T						.						113	112	113					2																	208866251		1921	4130	6051	SO:0001583	missense	389072	exon2			TGGATCCCATAAA	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.113G>T	2.37:g.208866251C>A	ENSP00000417003:p.Gly38Val	22	0		14	2	NM_001080475	B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608253	0.46527	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.91180	-2.57;-2.63;-2.8	5.84	4.02	0.46733	.	0.467315	0.22279	N	0.062143	D	0.85331	0.5672	L	0.29908	0.895	0.80722	D	1	P;B	0.37500	0.597;0.29	B;B	0.37650	0.255;0.17	D	0.84581	0.0661	10	0.87932	D	0	.	12.2733	0.54719	0.0:0.8064:0.1283:0.0653	.	38;38	C9J119;Q6ZWE6	.;PKHM3_HUMAN	V	38	ENSP00000417003:G38V;ENSP00000373899:G38V;ENSP00000400150:G38V	ENSP00000373899:G38V	G	-	2	0	PLEKHM3	208574496	0.998000	0.40836	0.979000	0.43373	0.982000	0.71751	4.044000	0.57361	0.899000	0.36444	-0.145000	0.13849	GGG	.		0.483	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		A	208866251	C	A	208866251	3	1	6	1	0	0	0	0	1	0	0	0	12121	623	22	3	2200	3	PLEKHM3	2	208866251	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	10596383	208866251	34333122	49	710											
SPAG16	79582	hgsc.bcm.edu	37	2	215275017	215275017	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:215275017G>A	ENST00000331683.5	+	16	1969	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000312504.5_5'Flank|SPAG16_ENST00000374309.3_Missense_Mutation_p.G531D|VWC2L_ENST00000427124.1_5'Flank	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	625					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G625D(1)		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)		GGCTCTGACGGCACAGTTCGA	0.512																																					p.G625D		.											SPAG16,colon,carcinoma,0,1	SPAG16	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1874A						.						117	111	113					2																	215275017		2203	4300	6503	SO:0001583	missense	79582	exon16			CTGACGGCACAGT	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.1874G>A	2.37:g.215275017G>A	ENSP00000332592:p.Gly625Asp	17	0		14	2	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232969	0.79688	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.65732	-0.17;-0.17;-0.17	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.56097	D	0.000022	T	0.79173	0.4401	M	0.78916	2.43	0.51012	D	0.999906	D;P;D	0.89917	1.0;0.909;1.0	D;P;D	0.97110	1.0;0.688;1.0	T	0.75434	-0.3319	10	0.26408	T	0.33	.	17.8811	0.88841	0.0:0.0:1.0:0.0	.	531;565;625	B4DYB5;Q4G1A2;Q8N0X2	.;.;SPG16_HUMAN	D	625;531;249	ENSP00000332592:G625D;ENSP00000363428:G531D;ENSP00000416600:G249D	ENSP00000332592:G625D	G	+	2	0	SPAG16	214983262	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.853000	0.69496	2.737000	0.93849	0.563000	0.77884	GGC	.		0.512	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		A	215275017	G	A	215275017	3	1	6	1	0	0	0	0	1	0	0	0	15025	1203	42	3	1952	3	SPAG16	2	215275017	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	6408766	215275017	27924356	50	711											
DIS3L2	129563	hgsc.bcm.edu;bcgsc.ca	37	2	232894774	232894774	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:232894774C>A	ENST00000409307.1	+	4	350	c.350C>A	c.(349-351)cCc>cAc	p.P117H	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000325385.7_Missense_Mutation_p.P117H|DIS3L2_ENST00000360410.4_Missense_Mutation_p.P117H|DIS3L2_ENST00000409401.3_Missense_Mutation_p.P117H|DIS3L2_ENST00000273009.6_Missense_Mutation_p.P117H					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)		AAACTGCTTCCCGAGGAGCAT	0.433																																					p.P117H		.											.	.	.	0			c.C350A						.						149	145	146					2																	232894774		1863	4098	5961	SO:0001583	missense	129563	exon5			TGCTTCCCGAGGA	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.350C>A	2.37:g.232894774C>A	ENSP00000386799:p.Pro117His	95	0		69	4	NM_001257282		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896904	0.72639	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000441279;ENST00000431466;ENST00000409307	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.53	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.63721	0.2535	M	0.89715	3.055	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	T	0.73655	-0.3914	10	0.72032	D	0.01	-10.901	16.3508	0.83204	0.0:0.8679:0.1321:0.0	.	117;117	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	H	117	ENSP00000273009:P117H;ENSP00000315569:P117H;ENSP00000353584:P117H;ENSP00000386594:P117H;ENSP00000390467:P117H;ENSP00000386799:P117H	ENSP00000273009:P117H	P	+	2	0	DIS3L2	232603018	1.000000	0.71417	0.848000	0.33437	0.946000	0.59487	6.595000	0.74109	1.315000	0.45114	0.557000	0.71058	CCC	.		0.433	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		A	232894774	C	A	232894774	3	1	6	1	0	0	0	0	1	0	0	0	4551	623	22	3	364	3	DIS3L2	2	232894774	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	17619757	232894774	10304599	51	712											
CHRNG	1146	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	233408058	233408058	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr2:233408058G>T	ENST00000389494.3	+	8	900	c.879G>T	c.(877-879)aaG>aaT	p.K293N	CHRNG_ENST00000389492.3_Missense_Mutation_p.K241N	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	293					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|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)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TTGTGGCCAAGAAGGTGCCTG	0.582																																					p.K293N		.											.	.	.	0			c.G879T						.						98	93	95					2																	233408058		2203	4300	6503	SO:0001583	missense	1146	exon8			GGCCAAGAAGGTG	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.879G>T	2.37:g.233408058G>T	ENSP00000374145:p.Lys293Asn	24	0		22	4	NM_005199	B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851152	0.71719	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.84660	-1.88;-1.88	4.96	3.14	0.36123	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.378135	0.29314	N	0.012514	D	0.86347	0.5911	M	0.67953	2.075	0.46317	D	0.998986	P;P	0.52842	0.956;0.853	P;P	0.53313	0.723;0.583	D	0.84852	0.0814	10	0.72032	D	0.01	.	7.0286	0.24954	0.1487:0.0:0.71:0.1414	.	241;293	Q14DU4;P07510	.;ACHG_HUMAN	N	293;293;241	ENSP00000374145:K293N;ENSP00000374143:K241N	ENSP00000374143:K241N	K	+	3	2	CHRNG	233116302	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.582000	0.67477	0.680000	0.31366	0.313000	0.20887	AAG	.		0.582	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		T	233408058	G	T	233408058	3	4	6	1	0	0	0	0	1	0	0	0	3403	933	33	3	909	3	CHRNG	2	233408058	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	513284	233408058	9791315	52	713											
SUMF1	285362	bcgsc.ca	37	3	4452606	4452606	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:4452606C>A	ENST00000272902.5	-	7	932	c.897G>T	c.(895-897)tgG>tgT	p.W299C	SUMF1_ENST00000534863.1_Missense_Mutation_p.W299C|SUMF1_ENST00000383843.5_Missense_Mutation_p.W274C|SUMF1_ENST00000405420.2_Missense_Mutation_p.W299C|SUMF1_ENST00000458465.2_Missense_Mutation_p.W167C	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	299					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)		AAGTCCATTCCCATGCGTTCC	0.438																																					p.W299C													.	SUMF1	23	0			c.G897T						.						202	181	188					3																	4452606		2203	4300	6503	SO:0001583	missense	285362	exon7			CCATTCCCATGCG	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.897G>T	3.37:g.4452606C>A	ENSP00000272902:p.Trp299Cys	66	0		21	3	NM_001164675	B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172618	0.57584	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-3.74;-4.97	5.42	5.42	0.78866	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.105878	0.64402	D	0.000001	D	0.99396	0.9787	H	0.97516	4.02	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	0.98470	1.0600	10	0.87932	D	0	-26.0734	17.9951	0.89181	0.0:1.0:0.0:0.0	.	167;274;299;299	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	C	299;299;299;274;167;299	ENSP00000440421:W299C;ENSP00000272902:W299C;ENSP00000373355:W274C;ENSP00000410060:W167C;ENSP00000384977:W299C	ENSP00000272902:W299C	W	-	3	0	SUMF1	4427606	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	TGG	.		0.438	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		A	4452606	C	A	4452606	3	1	6	1	0	0	0	0	1	0	0	0	15432	624	22	3	239	3	SUMF1	3	4452606	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		4452606	193569824	53	714											
GLB1	2720	bcgsc.ca	37	3	33110405	33110405	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:33110405G>T	ENST00000399402.3	-	3	344	c.213C>A	c.(211-213)gaC>gaA	p.D71E	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Missense_Mutation_p.D149E|GLB1_ENST00000307363.5_Missense_Mutation_p.D101E	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	101					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCACATCATGGTCCTCAGAAA	0.542																																					p.D101E													GLB1,NS,carcinoma,-1,1	GLB1	51	0			c.C303A						.						115	115	115					3																	33110405		1953	4153	6106	SO:0001583	missense	2720	exon3			ATCATGGTCCTCA	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.213C>A	3.37:g.33110405G>T	ENSP00000382333:p.Asp71Glu	38	0		22	3	NM_000404	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	4.532	0.098842	0.08681	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000450835	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	4.29	-5.73	0.02398	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.197843	0.51477	N	0.000098	D	0.90645	0.7066	L	0.35723	1.085	0.29181	N	0.876488	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.004;0.004;0.006	T	0.82822	-0.0267	10	0.12103	T	0.63	-19.1245	0.7558	0.00998	0.2744:0.2921:0.2358:0.1976	.	101;101;149	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	E	71;101;149;71	ENSP00000382333:D71E;ENSP00000306920:D101E;ENSP00000393377:D149E;ENSP00000403264:D71E	ENSP00000306920:D101E	D	-	3	2	GLB1	33085409	0.968000	0.33430	0.050000	0.19076	0.926000	0.56050	0.483000	0.22292	-0.865000	0.04073	-0.150000	0.13652	GAC	.		0.542	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		T	33110405	G	T	33110405	3	4	6	1	0	0	0	0	1	0	0	0	6453	1252	44	3	1786	3	GLB1	3	33110405	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	28657799	33110405	164912025	54	715											
LARS2	23395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	45500306	45500306	+	Silent	SNP	A	A	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:45500306A>T	ENST00000415258.1	+	7	819	c.678A>T	c.(676-678)tcA>tcT	p.S226S	LARS2_ENST00000265537.3_Silent_p.S226S|LARS2_ENST00000414984.1_Silent_p.S183S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	226					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)	ATGGCTGTTCATGGCGTTCTG	0.483																																					p.S226S		.											.	.	.	0			c.A678T						.						133	122	126					3																	45500306		2203	4300	6503	SO:0001819	synonymous_variant	23395	exon8			CTGTTCATGGCGT	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.678A>T	3.37:g.45500306A>T		33	0		25	20	NM_015340		Silent	SNP	ENST00000415258.1	37	CCDS2728.1																																																																																			.		0.483	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		T	45500306	A	T	45500306	2	4	6	1	0	0	0	0	0	0	0	1	8663	204	8	5		5	LARS2	3	45500306	Silent	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	12389901	45500306	152522124	55	716											
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	52437802	52437802	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:52437802delT	ENST00000460680.1	-	13	1830	c.1359delA	c.(1357-1359)aaafs	p.K453fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K435fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K453fs*15(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTGGGACTCTTTGAGCTTCT	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.E454fs	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	.	.	1	Deletion - Frameshift(1)	kidney(1)	c.1360delG						.						82	84	84					3																	52437802		2203	4300	6503	SO:0001589	frameshift_variant	8314	exon13			GGACTCTTTGAGC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1359delA	3.37:g.52437802delT	ENSP00000417132:p.Lys453fs	28	0		17	11	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52437802	T	-	52437802	7	5	6	1	0	1	0	1	0	0	0	0	1312	1606	56	0	850	0	BAP1	3	52437802	Frame_Shift_Del	DEL	T	TCGA-4G-AAZO-01A-12D-A417-09	6937496	52437802	145584628	56	717	3	2									
BAP1	8314	hgsc.bcm.edu;bcgsc.ca	37	3	52437805	52437805	+	Silent	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:52437805G>A	ENST00000460680.1	-	13	1827	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	BAP1_ENST00000296288.5_Silent_p.L434L	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGACTCTTTGAGCTTCTCAG	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.L452L	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	.	.	0			c.C1356T						.						84	85	85					3																	52437805		2203	4300	6503	SO:0001819	synonymous_variant	8314	exon13			CTCTTTGAGCTTC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1356C>T	3.37:g.52437805G>A		25	0		17	12	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52437805	G	A	52437805	2	1	6	1	0	0	0	0	0	0	0	1	1312	1277	45	3		3	BAP1	3	52437805	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3	52437805	145584625	57	718	3	2									
PBRM1	55193	hgsc.bcm.edu	37	3	52668817	52668817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:52668817C>A	ENST00000296302.7	-	11	1103	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E336*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E368*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E368*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E368*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E368*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E368*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E368*			Q86U86	PB1_HUMAN	polybromo 1	368					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)	p.E368*(4)|p.E336*(2)		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)		GACTCTCCCTCTTCATAGCGT	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.E368X		.		Rec	yes		3	3p21	55193	polybromo 1		E	PBRM1_ENST00000356770,NS,carcinoma,0,5	PBRM1_ENST00000356770	0	6	Substitution - Nonsense(6)	kidney(6)	c.G1102T						.						72	70	71					3																	52668817		2203	4300	6503	SO:0001587	stop_gained	55193	exon12			CTCCCTCTTCATA	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.1102G>T	3.37:g.52668817C>A	ENSP00000296302:p.Glu368*	28	0		11	3	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	38	7.060397	0.98036	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-22.6802	20.2566	0.98424	0.0:1.0:0.0:0.0	.	.	.	.	X	336;368;368;368;368;368;368;368;368;312	.	ENSP00000296302:E368X	E	-	1	0	PBRM1	52643857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.793000	0.96121	0.561000	0.74099	GAG	.		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52668817	C	A	52668817	4	1	6	1	0	0	0	0	0	1	0	0	11530	922	32	3	3878	3	PBRM1	3	52668817	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	231012	52668817	145353613	58	719											
ERC2	26059	hgsc.bcm.edu	37	3	56468705	56468705	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:56468705G>T	ENST00000288221.6	-	2	586	c.331C>A	c.(331-333)Cac>Aac	p.H111N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	111						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.H111Y(1)		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)		ACATCTGTGTGGGAAAGTCCA	0.527																																					p.H111N		.											ERC2_ENST00000288221,trunk,malignant_melanoma,0,1	ERC2_ENST00000288221	0	1	Substitution - Missense(1)	skin(1)	c.C331A						.						187	183	184					3																	56468705		2013	4161	6174	SO:0001583	missense	26059	exon2			CTGTGTGGGAAAG	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.331C>A	3.37:g.56468705G>T	ENSP00000288221:p.His111Asn	41	0		31	2	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022133	0.75275	.	.	ENSG00000187672	ENST00000288221	T	0.29142	1.58	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.40543	1.245	0.39822	D	0.972849	B	0.32620	0.378	B	0.24006	0.05	T	0.06588	-1.0818	10	0.52906	T	0.07	-25.03	20.024	0.97514	0.0:0.0:1.0:0.0	.	111	O15083	ERC2_HUMAN	N	111	ENSP00000288221:H111N	ENSP00000288221:H111N	H	-	1	0	ERC2	56443745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.718000	0.92993	0.655000	0.94253	CAC	.		0.527	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		T	56468705	G	T	56468705	3	4	6	1	0	0	0	0	1	0	0	0	5227	1348	47	3	2596	3	ERC2	3	56468705	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3799888	56468705	141553725	59	720											
OR5AC2	81050	hgsc.bcm.edu;bcgsc.ca	37	3	97806872	97806872	+	Missense_Mutation	SNP	C	C	A	rs377586613		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:97806872C>A	ENST00000358642.2	+	1	856	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	286					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(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TATAATTCCCCTGCTAAACCC	0.378																																					p.L286M		.											.	.	.	0			c.C856A						.						86	84	85					3																	97806872		2203	4300	6503	SO:0001583	missense	81050	exon1			ATTCCCCTGCTAA	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.856C>A	3.37:g.97806872C>A	ENSP00000351466:p.Leu286Met	62	0		48	4	NM_054106		Missense_Mutation	SNP	ENST00000358642.2	37	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.229937	0.01518	.	.	ENSG00000196578	ENST00000358642	T	0.37058	1.22	4.51	-0.0915	0.13661	GPCR, rhodopsin-like superfamily (1);	0.308537	0.17700	U	0.164971	T	0.30510	0.0767	N	0.25060	0.705	0.09310	N	1	D	0.63046	0.992	D	0.69824	0.966	T	0.29181	-1.0020	10	0.02654	T	1	-9.3846	4.1663	0.10308	0.0:0.3026:0.3293:0.3681	.	286	Q9NZP5	O5AC2_HUMAN	M	286	ENSP00000351466:L286M	ENSP00000351466:L286M	L	+	1	2	OR5AC2	99289562	0.000000	0.05858	0.004000	0.12327	0.095000	0.18619	-1.263000	0.02850	-0.207000	0.10187	0.590000	0.80494	CTG	.		0.378	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			A	97806872	C	A	97806872	3	1	6	1	0	0	0	0	1	0	0	0	11180	680	24	3	858	3	OR5AC2	3	97806872	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	41338167	97806872	100215558	60	721											
IMPG2	50939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	100963395	100963395	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:100963395C>T	ENST00000193391.7	-	13	1967	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	594					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AATATTAACTCTTTTTCCATG	0.453																																					p.E594K		.											.	.	.	0			c.G1780A						.						136	129	132					3																	100963395		2203	4300	6503	SO:0001583	missense	50939	exon13			TTAACTCTTTTTC	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1780G>A	3.37:g.100963395C>T	ENSP00000193391:p.Glu594Lys	58	0		57	28	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566507	0.27915	.	.	ENSG00000081148	ENST00000193391	T	0.24350	1.86	5.88	5.88	0.94601	.	0.408515	0.25500	N	0.030253	T	0.17534	0.0421	L	0.29908	0.895	0.25627	N	0.986349	P;P	0.39282	0.666;0.666	B;B	0.35039	0.194;0.194	T	0.19192	-1.0313	10	0.25106	T	0.35	-0.2158	12.0779	0.53655	0.0:0.9152:0.0:0.0848	.	594;594	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	594	ENSP00000193391:E594K	ENSP00000193391:E594K	E	-	1	0	IMPG2	102446085	0.384000	0.25164	0.995000	0.50966	0.059000	0.15707	1.341000	0.33907	2.780000	0.95670	0.655000	0.94253	GAG	.		0.453	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			T	100963395	C	T	100963395	3	4	6	1	0	0	0	0	1	0	0	0	7756	922	32	3	1973	3	IMPG2	3	100963395	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	3156523	100963395	97059035	61	722											
PHLDB2	90102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	111604232	111604232	+	Silent	SNP	A	A	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:111604232A>G	ENST00000431670.2	+	2	1719	c.1308A>G	c.(1306-1308)agA>agG	p.R436R	PHLDB2_ENST00000478922.1_Silent_p.R436R|PHLDB2_ENST00000477695.1_Silent_p.R436R|PHLDB2_ENST00000412622.1_Silent_p.R436R|PHLDB2_ENST00000393923.3_Silent_p.R463R|PHLDB2_ENST00000481953.1_Silent_p.R436R|PHLDB2_ENST00000393925.3_Silent_p.R436R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	436						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGGAGGAAAGACTCAGGGAGC	0.517																																					p.R463R		.											PHLDB2_ENST00000431670,NS,carcinoma,0,2	PHLDB2_ENST00000431670	0	0			c.A1389G						.						64	69	67					3																	111604232		2203	4300	6503	SO:0001819	synonymous_variant	90102	exon3			GGAAAGACTCAGG		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1308A>G	3.37:g.111604232A>G		27	0		22	15	NM_001134437	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	CCDS46886.1																																																																																			.		0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		G	111604232	A	G	111604232	2	3	6	1	0	0	0	0	0	0	0	1	11891	272	10	4		4	PHLDB2	3	111604232	Silent	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	10640837	111604232	86418198	62	723											
TOPBP1	11073	hgsc.bcm.edu;bcgsc.ca	37	3	133337058	133337058	+	Splice_Site	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:133337058C>A	ENST00000260810.5	-	21	3722	c.3591G>T	c.(3589-3591)caG>caT	p.Q1197H		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1197					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						TCTTGTTACCCTGTTTAGCAA	0.353								Other conserved DNA damage response genes																													p.Q1197H	Ovarian(21;193 658 4424 15423 17362)	.											.	.	.	0			c.G3591T						.						75	68	70					3																	133337058		1821	4087	5908	SO:0001630	splice_region_variant	11073	exon21			GTTACCCTGTTTA	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.3592+1G>T	3.37:g.133337058C>A		72	0		60	4	NM_007027	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154690	0.21371	.	.	ENSG00000163781	ENST00000260810	T	0.12465	2.68	5.87	0.776	0.18532	.	0.441141	0.28146	N	0.016428	T	0.06735	0.0172	N	0.19112	0.55	0.31204	N	0.699396	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.10042	-1.0647	10	0.42905	T	0.14	.	3.1076	0.06347	0.1212:0.4999:0.1188:0.26	.	1110;1197	A0AV47;Q92547	.;TOPB1_HUMAN	H	1197	ENSP00000260810:Q1197H	ENSP00000260810:Q1197H	Q	-	3	2	TOPBP1	134819748	0.959000	0.32827	0.998000	0.56505	0.871000	0.50021	-0.033000	0.12246	0.472000	0.27344	0.655000	0.94253	CAG	.		0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	Missense_Mutation	A	133337058	C	A	133337058	5	1	6	1	0	0	0	0	0	0	1	0	16417	695	24	3	1009	3	TOPBP1	3	133337058	Splice_Site	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	21732826	133337058	64685372	63	724											
COPB2	9276	hgsc.bcm.edu	37	3	139097937	139097937	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:139097937G>T	ENST00000333188.5	-	4	488	c.307C>A	c.(307-309)Cgc>Agc	p.R103S	COPB2_ENST00000507777.1_Missense_Mutation_p.R74S|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	103					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)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.R103C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAATACAGCGAATGTAGTCT	0.383																																					p.R103S		.											COPB2,caecum,carcinoma,0,1	COPB2	0	1	Substitution - Missense(1)	large_intestine(1)	c.C307A						.						124	116	119					3																	139097937		2203	4300	6503	SO:0001583	missense	9276	exon4			TACAGCGAATGTA	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.307C>A	3.37:g.139097937G>T	ENSP00000329419:p.Arg103Ser	49	0		65	3	NM_004766	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180202	0.94846	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006;ENST00000512153;ENST00000513274;ENST00000512242;ENST00000514508	T;T;T;T;T;T;T	0.81078	0.2;0.2;-1.45;0.2;0.2;0.2;-1.45	5.64	5.64	0.86602	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	0.86477	0.5942	L	0.38838	1.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87108	0.2183	10	0.87932	D	0	-21.7541	20.0639	0.97700	0.0:0.0:1.0:0.0	.	103;103	B4E2C9;P35606	.;COPB2_HUMAN	S	103;74;103;74;74;74;74	ENSP00000329419:R103S;ENSP00000422295:R74S;ENSP00000423271:R103S;ENSP00000422547:R74S;ENSP00000424144:R74S;ENSP00000427185:R74S;ENSP00000422469:R74S	ENSP00000329419:R103S	R	-	1	0	COPB2	140580627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.817000	0.96982	0.557000	0.71058	CGC	.		0.383	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		T	139097937	G	T	139097937	3	4	6	1	0	0	0	0	1	0	0	0	3736	1058	37	2	2489	2	COPB2	3	139097937	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	5760879	139097937	58924493	64	725											
IGSF10	285313	hgsc.bcm.edu	37	3	151156014	151156014	+	Missense_Mutation	SNP	G	G	A	rs377142937		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:151156014G>A	ENST00000282466.3	-	6	6334	c.6335C>T	c.(6334-6336)gCg>gTg	p.A2112V	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	2112	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.A2112V(1)		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)			TCCTTCCTCCGCTACCCCAAC	0.448																																					p.A2112V		.											IGSF10,NS,carcinoma,0,1	IGSF10	0	1	Substitution - Missense(1)	endometrium(1)	c.C6335T						.	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	107	102	104		416,272,6335	5.9	0.3	3		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IGSF10	NM_001178145.1,NM_001178146.1,NM_178822.4	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	139/651,91/603,2112/2624	151156014	1,13005	2203	4300	6503	SO:0001583	missense	285313	exon6			TCCTCCGCTACCC	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.6335C>T	3.37:g.151156014G>A	ENSP00000282466:p.Ala2112Val	72	0		45	3	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634545	0.67130	0.0	1.16E-4	ENSG00000152580	ENST00000282466	T	0.28666	1.6	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138761	0.32624	N	0.005853	T	0.46946	0.1419	L	0.32530	0.975	0.28347	N	0.921094	D;P	0.89917	1.0;0.937	D;P	0.74348	0.983;0.651	T	0.31971	-0.9924	10	0.36615	T	0.2	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	2112;139	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	V	2112	ENSP00000282466:A2112V	ENSP00000282466:A2112V	A	-	2	0	IGSF10	152638704	0.995000	0.38212	0.294000	0.24946	0.952000	0.60782	7.259000	0.78381	2.775000	0.95449	0.655000	0.94253	GCG	.		0.448	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151156014	G	A	151156014	3	1	6	1	0	0	0	0	1	0	0	0	7624	1087	38	1	1540	1	IGSF10	3	151156014	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	12058077	151156014	46866416	65	726											
ATP11B	23200	hgsc.bcm.edu;bcgsc.ca	37	3	182583433	182583433	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:182583433C>A	ENST00000323116.5	+	13	1650	c.1390C>A	c.(1390-1392)Cat>Aat	p.H464N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	464					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)			CAACTTATCCCATCTTACAAC	0.323																																					p.H464N		.											.	.	.	0			c.C1390A						.						89	92	91					3																	182583433		2203	4300	6503	SO:0001583	missense	23200	exon13			TTATCCCATCTTA	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.1390C>A	3.37:g.182583433C>A	ENSP00000321195:p.His464Asn	86	0		73	4	NM_014616	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949865	0.34377	.	.	ENSG00000058063	ENST00000323116	D	0.95724	-3.79	5.2	5.2	0.72013	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.723943	0.12199	N	0.490471	D	0.87289	0.6140	N	0.04636	-0.2	0.80722	D	1	B;B	0.19817	0.039;0.01	B;B	0.15052	0.01;0.012	T	0.80797	-0.1222	10	0.15066	T	0.55	.	11.0764	0.48034	0.0:0.9072:0.0:0.0928	.	38;464	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	N	464	ENSP00000321195:H464N	ENSP00000321195:H464N	H	+	1	0	ATP11B	184066127	0.000000	0.05858	0.929000	0.37066	0.724000	0.41520	0.780000	0.26760	2.689000	0.91719	0.650000	0.86243	CAT	.		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		A	182583433	C	A	182583433	3	1	6	1	0	0	0	0	1	0	0	0	1121	594	21	3	1440	3	ATP11B	3	182583433	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	31427419	182583433	15438997	66	727											
MAP3K13	9175	hgsc.bcm.edu	37	3	185184616	185184616	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:185184616G>A	ENST00000265026.3	+	10	1842	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R296H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R359H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R359H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R503H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R503H(2)		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)			TTCTGCAGGCGTGAGCAAGCA	0.458																																					p.R503H		.											MAP3K13_ENST00000424227,NS,carcinoma,0,2	MAP3K13_ENST00000424227	0	2	Substitution - Missense(2)	lung(2)	c.G1508A						.						129	108	115					3																	185184616		2203	4300	6503	SO:0001583	missense	9175	exon10			GCAGGCGTGAGCA	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.1508G>A	3.37:g.185184616G>A	ENSP00000265026:p.Arg503His	44	0		43	2	NM_004721		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312914	0.95655	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.99	T	0.30119	-0.9989	10	0.66056	D	0.02	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	359;296;503	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	296;503;359;359;503	ENSP00000411483:R296H;ENSP00000399910:R503H;ENSP00000409325:R359H;ENSP00000439257:R359H;ENSP00000265026:R503H	ENSP00000265026:R503H	R	+	2	0	MAP3K13	186667310	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.695000	0.98691	2.776000	0.95493	0.655000	0.94253	CGT	.		0.458	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		A	185184616	G	A	185184616	3	1	6	1	0	0	0	0	1	0	0	0	9285	1145	40	1	1542	1	MAP3K13	3	185184616	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2601183	185184616	12837814	67	728											
OPA1	4976	hgsc.bcm.edu	37	3	193372782	193372782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:193372782G>A	ENST00000392438.3	+	20	2213	c.1979G>A	c.(1978-1980)tGg>tAg	p.W660*	OPA1_ENST00000361828.2_Nonsense_Mutation_p.W678*|OPA1_ENST00000361150.2_Nonsense_Mutation_p.W661*|OPA1_ENST00000361908.3_Nonsense_Mutation_p.W697*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.W679*|OPA1_ENST00000361510.2_Nonsense_Mutation_p.W715*	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	660					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)		CTTAAACAGTGGACTGATAAA	0.368																																					p.W715X		.											.	.	.	0			c.G2144A						.						89	89	89					3																	193372782		2203	4300	6503	SO:0001587	stop_gained	4976	exon22			AACAGTGGACTGA	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.1979G>A	3.37:g.193372782G>A	ENSP00000376233:p.Trp660*	76	0		76	4	NM_130837	D3DNW4	Nonsense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	41	9.056640	0.99051	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	.	.	.	5.83	5.83	0.93111	.	0.056293	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9602	19.0981	0.93263	0.0:0.0:1.0:0.0	.	.	.	.	X	697;660;715;679;678;661	.	ENSP00000354781:W661X	W	+	2	0	OPA1	194855476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.753000	0.94483	0.585000	0.79938	TGG	.		0.368	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		A	193372782	G	A	193372782	4	1	6	1	0	0	0	0	0	1	0	0	10910	1357	47	3	2230	3	OPA1	3	193372782	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	8188166	193372782	4649648	68	729											
MUC20	200958	hgsc.bcm.edu	37	3	195452841	195452841	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr3:195452841C>A	ENST00000447234.2	+	2	1493	c.1367C>A	c.(1366-1368)tCc>tAc	p.S456Y	MUC20_ENST00000436408.1_Missense_Mutation_p.S456Y|MUC20_ENST00000320736.6_Missense_Mutation_p.S285Y|MUC20_ENST00000445522.2_Missense_Mutation_p.S421Y	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	456	Involved in oligomerization.				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)		p.S456F(1)		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)		TCGTCCACCTCCGATCCACCA	0.567																																					p.S285Y		.											MUC20,trunk,malignant_melanoma,0,1	MUC20	0	1	Substitution - Missense(1)	skin(1)	c.C854A						.						50	44	46					3																	195452841		2153	4251	6404	SO:0001583	missense	200958	exon3			CCACCTCCGATCC	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.1367C>A	3.37:g.195452841C>A	ENSP00000414350:p.Ser456Tyr	51	0		48	4	NM_152673	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		.	.	.	.	.	.	.	.	.	.	C	8.857	0.946063	0.18356	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.23147	2.37;2.48;2.53;1.92	4.38	3.42	0.39159	.	0.724278	0.11997	N	0.509172	T	0.32071	0.0817	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	D	0.66847	0.947	T	0.09037	-1.0693	10	0.62326	D	0.03	-0.1037	7.0399	0.25015	0.0:0.8552:0.0:0.1448	.	285	E9PH32	.	Y	456;285;456;421	ENSP00000414350:S456Y;ENSP00000325431:S285Y;ENSP00000396774:S456Y;ENSP00000405629:S421Y	ENSP00000325431:S285Y	S	+	2	0	MUC20	196938512	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.003000	0.12901	1.050000	0.40346	0.514000	0.50259	TCC	.		0.567	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		A	195452841	C	A	195452841	3	1	6	1	0	0	0	0	1	0	0	0	10014	855	30	3	864	3	MUC20	3	195452841	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2080059	195452841	2569589	69	730											
LGI2	55203	hgsc.bcm.edu;bcgsc.ca	37	4	25014069	25014069	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:25014069G>T	ENST00000382114.4	-	7	893	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	236						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)				TCTTGGAGTTGAACGTATCCA	0.468																																					p.F236L		.											.	.	.	0			c.C708A						.						130	112	118					4																	25014069		2203	4300	6503	SO:0001583	missense	55203	exon7			GGAGTTGAACGTA	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.708C>A	4.37:g.25014069G>T	ENSP00000371548:p.Phe236Leu	59	0		52	4	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669902	0.88348	.	.	ENSG00000153012	ENST00000382114	D	0.86497	-2.13	4.81	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.91047	0.7183	M	0.71036	2.16	0.58432	D	0.999999	D	0.55385	0.971	P	0.60068	0.868	D	0.90772	0.4673	10	0.49607	T	0.09	-31.395	12.9169	0.58211	0.0788:0.0:0.9212:0.0	.	236	Q8N0V4	LGI2_HUMAN	L	236	ENSP00000371548:F236L	ENSP00000371548:F236L	F	-	3	2	LGI2	24623167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.263000	0.51546	1.147000	0.42369	0.555000	0.69702	TTC	.		0.468	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			T	25014069	G	T	25014069	3	4	6	1	0	0	0	0	1	0	0	0	8781	1281	45	3	937	3	LGI2	4	25014069	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		25014069	166140207	70	731											
HTN1	3346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	70918808	70918808	+	Silent	SNP	C	C	T	rs577124582	byFrequency	TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:70918808C>T	ENST00000511674.1	+	2	86	c.15C>T	c.(13-15)gtC>gtT	p.V5V	HTN1_ENST00000246896.3_Silent_p.V5V			P15515	HIS1_HUMAN	histatin 1	5					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						AGTTTTTTGTCTTTGCTTTAG	0.313													C|||	3	0.000599042	0	0	5008	,	,		19141	0		0	False		,,,				2504	0.0031				p.V5V		.											.	.	.	0			c.C15T						.						176	159	165					4																	70918808		2202	4298	6500	SO:0001819	synonymous_variant	3346	exon2			TTTTGTCTTTGCT		CCDS3534.1	4q13	2008-02-05			ENSG00000126550	ENSG00000126550			5283	protein-coding gene	gene with protein product		142701					Standard	NM_002159		Approved	HIS1	uc003hex.3	P15515	OTTHUMG00000129397	ENST00000511674.1:c.15C>T	4.37:g.70918808C>T		93	0		57	17	NM_002159		Silent	SNP	ENST00000511674.1	37	CCDS3534.1																																																																																			.		0.313	HTN1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362220.2			T	70918808	C	T	70918808	2	4	6	1	0	0	0	0	0	0	0	1	7461	900	32	3		3	HTN1	4	70918808	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	45904739	70918808	120235468	71	732											
THAP6	152815	hgsc.bcm.edu	37	4	76452236	76452236	+	Nonsense_Mutation	SNP	G	G	T	rs372598193		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:76452236G>T	ENST00000311638.3	+	5	549	c.481G>T	c.(481-483)Gag>Tag	p.E161*	THAP6_ENST00000502620.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000380837.3_Nonsense_Mutation_p.E119*|THAP6_ENST00000514480.1_Nonsense_Mutation_p.E161*	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	161						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)			TGTGATCGGCGAGCTAGAGGA	0.358																																					p.E161X		.											.	.	.	0			c.G481T						.						72	73	72					4																	76452236		2203	4300	6503	SO:0001587	stop_gained	152815	exon5			ATCGGCGAGCTAG	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.481G>T	4.37:g.76452236G>T	ENSP00000309007:p.Glu161*	91	0		98	4	NM_144721	B4E146|Q5HYJ7|Q5JPC6	Nonsense_Mutation	SNP	ENST00000311638.3	37	CCDS3568.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878402	0.72294	.	.	ENSG00000174796	ENST00000311638;ENST00000380837;ENST00000514480	.	.	.	4.46	3.6	0.41247	.	1.300180	0.05171	N	0.499540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-15.8992	10.4619	0.44585	0.0:0.1968:0.8031:0.0	.	.	.	.	X	161;119;161	.	ENSP00000309007:E161X	E	+	1	0	THAP6	76671260	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.854000	0.48325	1.441000	0.47550	0.655000	0.94253	GAG	.		0.358	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		T	76452236	G	T	76452236	4	4	6	1	0	0	0	0	0	1	0	0	15895	1059	37	2	495	2	THAP6	4	76452236	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	5533428	76452236	114702040	72	733											
BMP2K	55589	bcgsc.ca	37	4	79832212	79832212	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:79832212C>A	ENST00000335016.5	+	16	2677	c.2511C>A	c.(2509-2511)ctC>ctA	p.L837L	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	837					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAATACTCCTCACCTCAGCCC	0.478																																					p.L837L													.	BMP2K	169	0			c.C2511A						.						80	79	79					4																	79832212		2025	4207	6232	SO:0001819	synonymous_variant	55589	exon16			ACTCCTCACCTCA	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2511C>A	4.37:g.79832212C>A		55	0		26	3	NM_198892	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.664419	0.00765	.	.	ENSG00000138756	ENST00000502613	.	.	.	4.4	3.52	0.40303	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17837	-1.0356	4	.	.	.	-4.8384	5.3564	0.16063	0.0:0.615:0.171:0.214	.	.	.	.	N	530	.	.	H	+	1	0	BMP2K	80051236	0.001000	0.12720	0.730000	0.30809	0.302000	0.27658	0.665000	0.25083	1.143000	0.42306	0.484000	0.47621	CAC	.		0.478	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		A	79832212	C	A	79832212	2	1	6	1	0	0	0	0	0	0	0	1	1462	813	29	3		3	BMP2K	4	79832212	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	3379976	79832212	111322064	73	734											
MEPE	56955	hgsc.bcm.edu	37	4	88767342	88767342	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:88767342G>A	ENST00000424957.3	+	4	1395	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MEPE_ENST00000560249.1_Missense_Mutation_p.R328H|MEPE_ENST00000361056.3_Missense_Mutation_p.R441H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.R417H|MEPE_ENST00000395102.4_Missense_Mutation_p.R472H|MEPE_ENST00000540395.1_Missense_Mutation_p.R328H	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	441					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)		ATTCCTTCTCGTGGTCTTGAT	0.388																																					p.R441H		.											MEPE,NS,carcinoma,0,1	MEPE	0	0			c.G1322A						.						71	67	68					4																	88767342		2203	4300	6503	SO:0001583	missense	56955	exon4			CTTCTCGTGGTCT	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.1322G>A	4.37:g.88767342G>A	ENSP00000416984:p.Arg441His	52	1		36	2	NM_020203	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	1.024	-0.684037	0.03353	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.40756	1.02;1.02;1.03;1.04;1.02	4.89	-9.77	0.00500	.	1.688310	0.03320	N	0.191774	T	0.17023	0.0409	N	0.12637	0.245	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.10989	-1.0606	10	0.08837	T	0.75	0.4654	5.3449	0.16004	0.5997:0.1927:0.1186:0.0889	.	441	Q9NQ76	MEPE_HUMAN	H	441;472;417;328;441	ENSP00000416984:R441H;ENSP00000378534:R472H;ENSP00000422747:R417H;ENSP00000443491:R328H;ENSP00000354341:R441H	ENSP00000354341:R441H	R	+	2	0	MEPE	88986366	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.755000	0.04782	-2.573000	0.00466	-0.251000	0.11542	CGT	.		0.388	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			A	88767342	G	A	88767342	3	1	6	1	0	0	0	0	1	0	0	0	9516	1145	40	1	1332	1	MEPE	4	88767342	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	8935130	88767342	102386934	74	735											
MMRN1	22915	hgsc.bcm.edu	37	4	90816624	90816624	+	Missense_Mutation	SNP	G	G	A	rs139015467		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:90816624G>A	ENST00000394980.1	+	2	821	c.502G>A	c.(502-504)Gtt>Att	p.V168I	MMRN1_ENST00000394981.1_Missense_Mutation_p.V134I|MMRN1_ENST00000264790.2_Missense_Mutation_p.V168I			Q13201	MMRN1_HUMAN	multimerin 1	168					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)		p.V168F(1)		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)		cattggaggcgttggaggcac	0.488																																					p.V168I		.											MMRN1,NS,carcinoma,0,1	MMRN1	0	1	Substitution - Missense(1)	ovary(1)	c.G502A						.	A	ILE/VAL	0,4406		0,0,2203	57	58	57		502	-0.2	0	4	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	no	missense	MMRN1	NM_007351.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	168/1229	90816624	2,13004	2203	4300	6503	SO:0001583	missense	22915	exon1			GGAGGCGTTGGAG	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.502G>A	4.37:g.90816624G>A	ENSP00000378431:p.Val168Ile	77	0		45	2	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	g	4.011	-0.000654	0.07819	0.0	2.33E-4	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.71222	0.17;0.17;-0.55	0.119	-0.238	0.13055	.	.	.	.	.	T	0.40171	0.1106	N	0.08118	0	0.09310	N	1	P;P	0.42456	0.78;0.672	B;B	0.35688	0.208;0.103	T	0.29119	-1.0022	8	0.33940	T	0.23	.	.	.	.	.	134;168	Q13201-2;Q13201	.;MMRN1_HUMAN	I	168;168;134	ENSP00000378431:V168I;ENSP00000264790:V168I;ENSP00000378432:V134I	ENSP00000264790:V168I	V	+	1	0	MMRN1	91035647	0.012000	0.17670	0.042000	0.18584	0.078000	0.17371	-0.687000	0.05156	-1.142000	0.02869	-1.148000	0.01847	GTT	0.000		0.488	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		A	90816624	G	A	90816624	3	1	6	1	0	0	0	0	1	0	0	0	9708	1145	40	1	504	1	MMRN1	4	90816624	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2049282	90816624	100337652	75	736											
METAP1	23173	hgsc.bcm.edu	37	4	99916973	99916973	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:99916973C>A	ENST00000296411.6	+	1	203	c.69C>A	c.(67-69)ccC>ccA	p.P23P	MIR3684_ENST00000579779.1_RNA|RP11-571L19.7_ENST00000583654.1_RNA	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	23	Zinc finger-like; important for proper ribosome association. {ECO:0000255|HAMAP- Rule:MF_03174}.				N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TCCAGTGTCCCACTTGCATCA	0.687																																					p.P23P		.											.	.	.	0			c.C69A						.						31	49	44					4																	99916973		692	1591	2283	SO:0001819	synonymous_variant	23173	exon1			GTGTCCCACTTGC	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"Peptidase M"	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.69C>A	4.37:g.99916973C>A		68	0		61	4	NM_015143	B4E2E6	Silent	SNP	ENST00000296411.6	37	CCDS47110.1																																																																																			.		0.687	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		A	99916973	C	A	99916973	2	1	6	1	0	0	0	0	0	0	0	1	9524	581	21	3		3	METAP1	4	99916973	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	9100349	99916973	91237303	76	737											
CCNA2	890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	122739257	122739257	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:122739257A>G	ENST00000274026.5	-	7	1495	c.1192T>C	c.(1192-1194)Tac>Cac	p.Y398H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	398					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCTTTGAGGTAGGTCTGGTGA	0.383																																					p.Y398H		.											.	.	.	0			c.T1192C						.						173	163	166					4																	122739257		2203	4300	6503	SO:0001583	missense	890	exon7			TGAGGTAGGTCTG		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1192T>C	4.37:g.122739257A>G	ENSP00000274026:p.Tyr398His	49	0		28	8	NM_001237	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.065985	0.55539	.	.	ENSG00000145386	ENST00000274026	T	0.19669	2.13	5.92	5.92	0.95590	Cyclin, C-terminal (1);Cyclin-like (2);	0.190335	0.48286	D	0.000194	T	0.25865	0.0630	L	0.35644	1.08	0.58432	D	0.999993	B	0.18741	0.03	B	0.40741	0.339	T	0.08785	-1.0705	10	0.09590	T	0.72	.	16.3593	0.83251	1.0:0.0:0.0:0.0	.	398	P20248	CCNA2_HUMAN	H	398	ENSP00000274026:Y398H	ENSP00000274026:Y398H	Y	-	1	0	CCNA2	122958707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.191000	0.72063	2.267000	0.75376	0.383000	0.25322	TAC	.		0.383	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		G	122739257	A	G	122739257	3	3	6	1	0	0	0	0	1	0	0	0	2917	420	15	4	114	4	CCNA2	4	122739257	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	22822284	122739257	68415019	77	738											
FGB	2244	hgsc.bcm.edu	37	4	155491687	155491687	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr4:155491687G>T	ENST00000302068.4	+	8	1424	c.1361G>T	c.(1360-1362)tGg>tTg	p.W454L	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.W235L	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	454	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGTACACCTGGGACATGGCA	0.468																																					p.W454L	NSCLC(106;1133 1613 21870 46110 52656)	.											.	.	.	0			c.G1361T						.						209	175	187					4																	155491687		2203	4300	6503	SO:0001583	missense	2244	exon8			ACACCTGGGACAT		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1361G>T	4.37:g.155491687G>T	ENSP00000306099:p.Trp454Leu	70	0		52	4	NM_005141	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716382	0.30413	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.76060	-0.99;-0.99	5.38	4.54	0.55810	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.167297	0.52532	D	0.000077	T	0.51058	0.1652	N	0.05050	-0.12	0.47905	D	0.999545	P;B	0.41848	0.763;0.003	B;B	0.36845	0.234;0.006	T	0.56498	-0.7969	10	0.42905	T	0.14	.	10.7203	0.46036	0.0715:0.1318:0.7967:0.0	.	437;454	B4E1D3;P02675	.;FIBB_HUMAN	L	454;437;235	ENSP00000306099:W454L;ENSP00000426757:W235L	ENSP00000306099:W454L	W	+	2	0	FGB	155711137	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	2.888000	0.48594	1.430000	0.47334	0.655000	0.94253	TGG	.		0.468	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		T	155491687	G	T	155491687	3	4	6	1	0	0	0	0	1	0	0	0	5853	1357	47	3	1391	3	FGB	4	155491687	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	32752430	155491687	35662589	78	739											
SLC12A7	10723	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	1077985	1077985	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:1077985T>C	ENST00000264930.5	-	12	1635	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	531					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)	GGCAATGGCCTGCAGTAGGCG	0.701																																					p.Q531R		.											.	.	.	0			c.A1592G						.						20	20	20					5																	1077985		2183	4285	6468	SO:0001583	missense	10723	exon12			ATGGCCTGCAGTA	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.1592A>G	5.37:g.1077985T>C	ENSP00000264930:p.Gln531Arg	55	0		44	18	NM_006598	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	t	20.1	3.936203	0.73442	.	.	ENSG00000113504	ENST00000264930	D	0.98807	-5.15	3.57	3.57	0.40892	Amino acid permease domain (1);	0.066707	0.64402	D	0.000010	D	0.99152	0.9707	M	0.94101	3.495	0.80722	D	1	D	0.71674	0.998	D	0.65323	0.934	D	0.99180	1.0867	10	0.87932	D	0	.	11.6533	0.51301	0.0:0.0:0.0:1.0	.	531	Q9Y666	S12A7_HUMAN	R	531	ENSP00000264930:Q531R	ENSP00000264930:Q531R	Q	-	2	0	SLC12A7	1130985	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.798000	0.75155	1.579000	0.49836	0.402000	0.26972	CAG	.		0.701	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		C	1077985	T	C	1077985	3	2	6	1	0	0	0	0	1	0	0	0	14433	1580	55	4	1711	4	SLC12A7	5	1077985	Missense_Mutation	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09		1077985	179837275	79	740											
ADAMTS16	170690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	5318295	5318295	+	Silent	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:5318295C>T	ENST00000274181.7	+	22	3598	c.3460C>T	c.(3460-3462)Ctg>Ttg	p.L1154L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1154	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						CGTGCAGTGCCTGGCTGGGGG	0.652																																					p.L1154L		.											.	.	.	0			c.C3460T						.						34	40	38					5																	5318295		2079	4193	6272	SO:0001819	synonymous_variant	170690	exon22			CAGTGCCTGGCTG	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.3460C>T	5.37:g.5318295C>T		29	0		21	14	NM_139056	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																			.		0.652	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5318295	C	T	5318295	2	4	6	1	0	0	0	0	0	0	0	1	261	680	24	3		3	ADAMTS16	5	5318295	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4240310	5318295	175596965	80	741											
DNAH5	1767	hgsc.bcm.edu	37	5	13820578	13820578	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:13820578G>T	ENST00000265104.4	-	41	6822	c.6718C>A	c.(6718-6720)Cct>Act	p.P2240T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2240	AAA 2. {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.P2240T(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)					AGTTTCCAAGGAGGATGGTTG	0.512									Kartagener syndrome																												p.P2240T		.											DNAH5,NS,carcinoma,0,1	DNAH5	0	1	Substitution - Missense(1)	lung(1)	c.C6718A						.						101	91	94					5																	13820578		2203	4300	6503	SO:0001583	missense	1767	exon41	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TCCAAGGAGGATG	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.6718C>A	5.37:g.13820578G>T	ENSP00000265104:p.Pro2240Thr	31	0		36	3	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415387	0.62511	.	.	ENSG00000039139	ENST00000265104	T	0.49432	0.78	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	L	0.58101	1.795	0.80722	D	1	B	0.28470	0.213	B	0.27500	0.08	T	0.38090	-0.9677	10	0.27082	T	0.32	.	19.4023	0.94635	0.0:0.0:1.0:0.0	.	2240	Q8TE73	DYH5_HUMAN	T	2240	ENSP00000265104:P2240T	ENSP00000265104:P2240T	P	-	1	0	DNAH5	13873578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.675000	0.98638	2.579000	0.87056	0.650000	0.86243	CCT	.		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13820578	G	T	13820578	3	4	6	1	0	0	0	0	1	0	0	0	4618	1174	41	3	7312	3	DNAH5	5	13820578	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	8502283	13820578	167094682	81	742											
DNAH5	1767	hgsc.bcm.edu	37	5	13859644	13859644	+	Nonsense_Mutation	SNP	C	C	A	rs147339019		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:13859644C>A	ENST00000265104.4	-	30	4971	c.4867G>T	c.(4867-4869)Gag>Tag	p.E1623*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1623	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)					ATCCAGCTCTCGATGATGTCT	0.418									Kartagener syndrome																												p.E1623X		.											DNAH5,NS,malignant_melanoma,0,1	DNAH5	0	0			c.G4867T						.						155	151	152					5																	13859644		2203	4300	6503	SO:0001587	stop_gained	1767	exon30	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AGCTCTCGATGAT	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.4867G>T	5.37:g.13859644C>A	ENSP00000265104:p.Glu1623*	45	0		39	2	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	47	13.529229	0.99747	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4818	0.95013	0.0:1.0:0.0:0.0	.	.	.	.	X	1623	.	ENSP00000265104:E1623X	E	-	1	0	DNAH5	13912644	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	7.529000	0.81952	2.667000	0.90743	0.563000	0.77884	GAG	.		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13859644	C	A	13859644	4	1	6	1	0	0	0	0	0	1	0	0	4618	893	31	2	9207	2	DNAH5	5	13859644	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	39066	13859644	167055616	82	743											
PDZD2	23037	hgsc.bcm.edu	37	5	32093091	32093091	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:32093091C>A	ENST00000438447.1	+	21	8194	c.7806C>A	c.(7804-7806)acC>acA	p.T2602T	PDZD2_ENST00000282493.3_Silent_p.T2602T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2602					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						CGAAATCTACCATCCTAACTC	0.433											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T2602T		.											.	.	.	0			c.C7806A						.						82	83	82					5																	32093091		2203	4300	6503	SO:0001819	synonymous_variant	23037	exon20			ATCTACCATCCTA	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.7806C>A	5.37:g.32093091C>A		77	0	829	80	4	NM_178140	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																			.		0.433	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32093091	C	A	32093091	2	1	6	1	0	0	0	0	0	0	0	1	11740	581	21	3		3	PDZD2	5	32093091	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	18233447	32093091	148822169	83	744											
MTMR12	54545	hgsc.bcm.edu	37	5	32274182	32274182	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:32274182C>A	ENST00000382142.3	-	3	359	c.189G>T	c.(187-189)caG>caT	p.Q63H	MTMR12_ENST00000264934.5_Missense_Mutation_p.Q63H|MTMR12_ENST00000280285.5_Missense_Mutation_p.Q63H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	63						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGGAATCTTCCTGGACATACT	0.458																																					p.Q63H		.											MTMR12,NS,carcinoma,0,1	MTMR12	0	0			c.G189T						.						172	149	157					5																	32274182		2203	4300	6503	SO:0001583	missense	54545	exon3			ATCTTCCTGGACA	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.189G>T	5.37:g.32274182C>A	ENSP00000371577:p.Gln63His	48	0		42	2	NM_001040446	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621667	0.66787	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95518	-3.73;-3.4;-3.26	4.8	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.63428	1.95	0.45791	D	0.998675	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.85130	0.994;0.997;0.993	D	0.95711	0.8758	10	0.62326	D	0.03	.	8.5828	0.33640	0.0:0.771:0.0:0.229	.	63;63;63	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	H	63	ENSP00000280285:Q63H;ENSP00000371577:Q63H;ENSP00000264934:Q63H	ENSP00000264934:Q63H	Q	-	3	2	MTMR12	32309939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.360000	0.34125	1.137000	0.42214	0.549000	0.68633	CAG	.		0.458	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		A	32274182	C	A	32274182	3	1	6	1	0	0	0	0	1	0	0	0	9979	680	24	3	2110	3	MTMR12	5	32274182	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	181091	32274182	148641078	84	745											
PTGER4	5734	hgsc.bcm.edu	37	5	40692076	40692076	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:40692076C>A	ENST00000302472.3	+	3	2087	c.1063C>A	c.(1063-1065)Cgc>Agc	p.R355S		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	355					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.R355S(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGGCGGGTCCCGCAGGGAGCG	0.547																																					p.R355S		.											PTGER4,NS,neuroblastoma,0,1	PTGER4	0	1	Substitution - Missense(1)	lung(1)	c.C1063A						.						41	45	44					5																	40692076		2203	4300	6503	SO:0001583	missense	5734	exon3			GGGTCCCGCAGGG	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1063C>A	5.37:g.40692076C>A	ENSP00000302846:p.Arg355Ser	21	0		20	2	NM_000958	Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628909	0.28978	.	.	ENSG00000171522	ENST00000302472	T	0.35236	1.32	5.03	3.19	0.36642	.	0.355344	0.30168	N	0.010259	T	0.29458	0.0734	L	0.47716	1.5	0.29072	N	0.883244	B	0.18166	0.026	B	0.16722	0.016	T	0.25187	-1.0139	10	0.07813	T	0.8	-12.0003	15.0255	0.71667	0.0:0.7201:0.2799:0.0	.	355	P35408	PE2R4_HUMAN	S	355	ENSP00000302846:R355S	ENSP00000302846:R355S	R	+	1	0	PTGER4	40727833	0.129000	0.22400	0.013000	0.15412	0.611000	0.37282	0.670000	0.25157	0.656000	0.30886	0.467000	0.42956	CGC	.		0.547	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		A	40692076	C	A	40692076	3	1	6	1	0	0	0	0	1	0	0	0	12788	652	23	2	1069	2	PTGER4	5	40692076	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	8417894	40692076	140223184	85	746											
NNT	23530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	43704461	43704461	+	Silent	SNP	A	A	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:43704461A>G	ENST00000264663.5	+	22	3437	c.3216A>G	c.(3214-3216)acA>acG	p.T1072T	NNT_ENST00000512996.2_Silent_p.T941T|NNT_ENST00000344920.4_Silent_p.T1072T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1072					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)			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)					CCAAGAAAACATGTGACGCGC	0.438																																					p.T1072T		.											.	.	.	0			c.A3216G						.						148	127	134					5																	43704461		2203	4299	6502	SO:0001819	synonymous_variant	23530	exon22			GAAAACATGTGAC	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.3216A>G	5.37:g.43704461A>G		38	0		32	11	NM_182977	Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																			.		0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		G	43704461	A	G	43704461	2	3	6	1	0	0	0	0	0	0	0	1	10549	204	8	4		4	NNT	5	43704461	Silent	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	3012385	43704461	137210799	86	747											
BDP1	55814	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	70754623	70754623	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:70754623C>A	ENST00000358731.4	+	2	693	c.430C>A	c.(430-432)Cga>Aga	p.R144R	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	144	Interaction with ZBTB43.				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)		AGACAGATACCGAATATACAA	0.398																																					p.R144R		.											.	.	.	0			c.C430A						.						106	99	101					5																	70754623		1880	4112	5992	SO:0001819	synonymous_variant	55814	exon2			AGATACCGAATAT	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.430C>A	5.37:g.70754623C>A		52	0		41	4	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																			.		0.398	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70754623	C	A	70754623	2	1	6	1	0	0	0	0	0	0	0	1	1396	644	23	2		2	BDP1	5	70754623	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	27050162	70754623	110160637	87	748											
CHD1	1105	hgsc.bcm.edu	37	5	98192174	98192174	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:98192174C>A	ENST00000284049.3	-	35	5192	c.5043G>T	c.(5041-5043)caG>caT	p.Q1681H		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1681					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)	p.Q1681Q(1)		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)	AAGGAGATCTCTGATCTAGTG	0.443																																					p.Q1681H		.											CHD1,NS,carcinoma,0,1	CHD1	0	1	Substitution - coding silent(1)	prostate(1)	c.G5043T						.						95	88	91					5																	98192174		2203	4299	6502	SO:0001583	missense	1105	exon35			AGATCTCTGATCT	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.5043G>T	5.37:g.98192174C>A	ENSP00000284049:p.Gln1681His	49	0		47	2	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783816	0.31593	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.91011	-2.77	5.82	4.95	0.65309	.	0.000000	0.32444	U	0.006099	D	0.93831	0.8027	M	0.63843	1.955	0.58432	D	0.999994	D	0.57571	0.98	D	0.69654	0.965	D	0.93481	0.6827	10	0.45353	T	0.12	.	14.6476	0.68772	0.0:0.9303:0.0:0.0696	.	1681	O14646	CHD1_HUMAN	H	271;1681	ENSP00000284049:Q1681H	ENSP00000284049:Q1681H	Q	-	3	2	CHD1	98220074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.722000	0.25925	1.466000	0.48025	0.655000	0.94253	CAG	.		0.443	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		A	98192174	C	A	98192174	3	1	6	1	0	0	0	0	1	0	0	0	3330	912	32	3	93	3	CHD1	5	98192174	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	27437551	98192174	82723086	88	749											
ST8SIA4	7903	hgsc.bcm.edu	37	5	100222104	100222104	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:100222104C>T	ENST00000231461.5	-	3	756	c.446G>A	c.(445-447)gGc>gAc	p.G149D	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G149D	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	149					axon guidance (GO:0007411)|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)|protein glycosylation (GO:0006486)|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)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAACAGAATGCCAGAATTTCC	0.383																																					p.G149D		.											ST8SIA4,NS,lymphoid_neoplasm,0,1	ST8SIA4	0	0			c.G446A						.						96	94	95					5																	100222104		2203	4300	6503	SO:0001583	missense	7903	exon3			AGAATGCCAGAAT	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.446G>A	5.37:g.100222104C>T	ENSP00000231461:p.Gly149Asp	49	0		43	2	NM_175052	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240932	0.95272	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.61627	0.09;0.09	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89346	0.3657	10	0.87932	D	0	-9.6147	19.3049	0.94157	0.0:1.0:0.0:0.0	.	149	Q92187	SIA8D_HUMAN	D	149	ENSP00000231461:G149D;ENSP00000428914:G149D	ENSP00000231461:G149D	G	-	2	0	ST8SIA4	100250003	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.809000	0.96659	0.557000	0.71058	GGC	.		0.383	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		T	100222104	C	T	100222104	3	4	6	1	0	0	0	0	1	0	0	0	15281	739	26	3	649	3	ST8SIA4	5	100222104	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2029930	100222104	80693156	89	750											
FER	2241	hgsc.bcm.edu	37	5	108382829	108382829	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:108382829C>A	ENST00000281092.4	+	16	2238	c.1854C>A	c.(1852-1854)ccC>ccA	p.P618P	FER_ENST00000438717.2_Silent_p.P443P	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		ATGATCATCCCAATATTGTCA	0.318																																					p.P618P	Colon(146;1051 1799 9836 27344 47401)	.											FER,NS,carcinoma,0,1	FER	0	0			c.C1854A						.						110	104	106					5																	108382829		2202	4298	6500	SO:0001819	synonymous_variant	2241	exon16			TCATCCCAATATT	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.1854C>A	5.37:g.108382829C>A		48	0		50	2	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																			.		0.318	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		A	108382829	C	A	108382829	2	1	6	1	0	0	0	0	0	0	0	1	5835	581	21	3		3	FER	5	108382829	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	8160725	108382829	72532431	90	751											
APC	324	hgsc.bcm.edu	37	5	112175124	112175124	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:112175124C>T	ENST00000457016.1	+	16	4213	c.3833C>T	c.(3832-3834)tCa>tTa	p.S1278L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1278L|APC_ENST00000508376.2_Missense_Mutation_p.S1278L			P25054	APC_HUMAN	adenomatous polyposis coli	1278	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.S1278*(1)|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)		AGTTCATTATCATCTTTGTCA	0.343		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.S1278L	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	APC,colon,carcinoma,0,3	APC	0	3	Substitution - Nonsense(1)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)	c.C3833T	GRCh37	CI984194|CM010758	APC	I|M		.						53	56	55					5																	112175124		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,	CATTATCATCTTT	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.3833C>T	5.37:g.112175124C>T	ENSP00000413133:p.Ser1278Leu	35	0		49	2	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020312	0.75275	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	6.03	6.03	0.97812	.	0.114891	0.64402	D	0.000010	D	0.94042	0.8091	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93070	0.6482	9	.	.	.	-13.7606	20.1672	0.98154	0.0:1.0:0.0:0.0	.	1280;1278	Q4LE70;P25054	.;APC_HUMAN	L	1278	ENSP00000413133:S1278L;ENSP00000257430:S1278L;ENSP00000427089:S1278L;ENSP00000423828:S1278L	.	S	+	2	0	APC	112203023	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCA	.		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112175124	C	T	112175124	3	4	6	1	0	0	0	0	1	0	0	0	763	838	29	3	3891	3	APC	5	112175124	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	3792295	112175124	68740136	91	752											
SEMA6A	57556	hgsc.bcm.edu	37	5	115831161	115831161	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:115831161G>T	ENST00000343348.6	-	6	1179	c.392C>A	c.(391-393)gCa>gAa	p.A131E	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A131E|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A131E	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	131	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)		GACAAACAATGCATCATCGTT	0.373																																					p.A131E		.											.	.	.	0			c.C392A						.						89	85	86					5																	115831161		1860	4105	5965	SO:0001583	missense	57556	exon6			AACAATGCATCAT	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.392C>A	5.37:g.115831161G>T	ENSP00000345512:p.Ala131Glu	76	0		69	4	NM_020796	Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387500	0.25031	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	6.08	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.238465	0.49916	D	0.000122	T	0.09730	0.0239	N	0.17312	0.475	0.80722	D	1	B;B	0.19817	0.012;0.039	B;B	0.29716	0.088;0.106	T	0.13656	-1.0501	10	0.66056	D	0.02	.	14.0786	0.64905	0.0766:0.0:0.9234:0.0	.	131;131	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	E	131	ENSP00000345512:A131E;ENSP00000257414:A131E;ENSP00000424388:A131E;ENSP00000421935:A131E	ENSP00000257414:A131E	A	-	2	0	SEMA6A	115859060	1.000000	0.71417	0.052000	0.19188	0.054000	0.15201	6.661000	0.74422	1.493000	0.48517	-0.345000	0.07892	GCA	.		0.373	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		T	115831161	G	T	115831161	3	4	6	1	0	0	0	0	1	0	0	0	14084	1319	46	3	2756	3	SEMA6A	5	115831161	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3656037	115831161	65084099	92	753											
KLHL3	26249	hgsc.bcm.edu	37	5	136997638	136997638	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:136997638C>A	ENST00000309755.4	-	7	1162	c.719G>T	c.(718-720)cGa>cTa	p.R240L	KLHL3_ENST00000508657.1_Missense_Mutation_p.R208L|KLHL3_ENST00000506491.1_Missense_Mutation_p.R158L|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000394937.3_Missense_Mutation_p.R240L|KLHL3_ENST00000541417.1_Missense_Mutation_p.R120L	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	240	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GAGAGGAAGTCGGACATGTTC	0.443																																					p.R240L		.											KLHL3,colon,carcinoma,-1,1	KLHL3	-1	0			c.G719T						.						161	135	144					5																	136997638		2203	4300	6503	SO:0001583	missense	26249	exon7			GGAAGTCGGACAT	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.719G>T	5.37:g.136997638C>A	ENSP00000312397:p.Arg240Leu	73	0		47	2	NM_017415	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362881	0.95877	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	H	0.98559	4.265	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	0.97110	0.994;1.0;0.999;1.0;1.0	D	0.96128	0.9090	10	0.87932	D	0	.	18.8301	0.92135	0.0:1.0:0.0:0.0	.	9;200;208;240;240	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77;Q8N4I8	.;.;.;KLHL3_HUMAN;.	L	158;208;240;120;200;240	ENSP00000424828:R158L;ENSP00000422099:R208L;ENSP00000312397:R240L;ENSP00000440319:R120L;ENSP00000426173:R200L;ENSP00000378395:R240L	ENSP00000312397:R240L	R	-	2	0	KLHL3	137025537	1.000000	0.71417	0.985000	0.45067	0.902000	0.53008	7.567000	0.82357	2.767000	0.95098	0.655000	0.94253	CGA	.		0.443	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			A	136997638	C	A	136997638	3	1	6	1	0	0	0	0	1	0	0	0	8410	884	31	2	1080	2	KLHL3	5	136997638	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	21166477	136997638	43917622	93	754											
HSPA9	3313	hgsc.bcm.edu;bcgsc.ca	37	5	137894311	137894311	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:137894311C>A	ENST00000297185.3	-	12	1571	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	SNORD63_ENST00000384262.1_RNA|HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000411005.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	482					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)			CTTTAATTTCCACTTGCGTTT	0.418																																					p.V482V		.											.	.	.	0			c.G1446T						.						156	146	149					5																	137894311		2203	4300	6503	SO:0001819	synonymous_variant	3313	exon12			AATTTCCACTTGC	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.1446G>T	5.37:g.137894311C>A		53	0		52	4	NM_004134	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	ENST00000297185.3	37	CCDS4208.1																																																																																			.		0.418	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		A	137894311	C	A	137894311	2	1	6	1	0	0	0	0	0	0	0	1	7444	581	21	3		3	HSPA9	5	137894311	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	896673	137894311	43020949	94	755											
SLC25A2	83884	hgsc.bcm.edu	37	5	140683227	140683227	+	Missense_Mutation	SNP	G	G	C			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:140683227G>C	ENST00000239451.4	-	1	385	c.206C>G	c.(205-207)cCg>cGg	p.P69R		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	69					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P69L(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CATAAGTGCCGGGCCGGTGCC	0.577																																					p.P69R		.											SLC25A2,NS,carcinoma,0,1	SLC25A2	0	1	Substitution - Missense(1)	breast(1)	c.C206G						.						79	77	78					5																	140683227		2203	4300	6503	SO:0001583	missense	83884	exon1			AGTGCCGGGCCGG	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.206C>G	5.37:g.140683227G>C	ENSP00000239451:p.Pro69Arg	16	0		17	2	NM_031947	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942908	0.34283	.	.	ENSG00000120329	ENST00000239451	D	0.82619	-1.63	3.72	2.83	0.33086	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	D	0.93207	0.7836	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93969	0.7247	10	0.72032	D	0.01	-11.7774	11.3746	0.49719	0.0:0.1859:0.8141:0.0	.	69	Q9BXI2	ORNT2_HUMAN	R	69	ENSP00000239451:P69R	ENSP00000239451:P69R	P	-	2	0	SLC25A2	140663411	1.000000	0.71417	0.037000	0.18230	0.019000	0.09904	8.721000	0.91446	1.141000	0.42275	0.585000	0.79938	CCG	.		0.577	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		C	140683227	G	C	140683227	3	2	6	1	0	0	0	0	1	0	0	0	14527	1116	39	5	703	5	SLC25A2	5	140683227	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2788916	140683227	40232033	95	756											
C5orf58	133874	hgsc.bcm.edu;bcgsc.ca	37	5	169661164	169661164	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:169661164C>A	ENST00000521850.1	+	1	1714	c.25C>A	c.(25-27)Cct>Act	p.P9T	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.P9T			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	9										large_intestine(1)|lung(4)|urinary_tract(1)	6						AGAAATTCTCCCTGCTCAGGA	0.403																																					p.P9T		.											.	.	.	0			c.C25A						.						122	117	119					5																	169661164		1864	4112	5976	SO:0001583	missense	133874	exon2			ATTCTCCCTGCTC	BC030767	CCDS47338.1	5q35.1	2009-09-30			ENSG00000234511	ENSG00000234511			37272	protein-coding gene	gene with protein product							Standard	NM_001102609		Approved		uc010jjn.3	C9J3I9	OTTHUMG00000163122	ENST00000521850.1:c.25C>A	5.37:g.169661164C>A	ENSP00000428956:p.Pro9Thr	60	0		69	4	NM_001102609		Missense_Mutation	SNP	ENST00000521850.1	37	CCDS47338.1	.	.	.	.	.	.	.	.	.	.	C	8.732	0.916801	0.17907	.	.	ENSG00000234511	ENST00000521850	.	.	.	3.76	-1.88	0.07713	.	.	.	.	.	T	0.17195	0.0413	N	0.14661	0.345	0.09310	N	1	B	0.32160	0.358	B	0.24701	0.055	T	0.14172	-1.0482	8	0.87932	D	0	.	5.7573	0.18180	0.0:0.2702:0.5011:0.2287	.	9	C9J3I9	CE058_HUMAN	T	9	.	ENSP00000428956:P9T	P	+	1	0	C5orf58	169593742	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.700000	0.01905	-0.412000	0.07519	-0.176000	0.13171	CCT	.		0.403	C5orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371739.1	NM_001102609		A	169661164	C	A	169661164	3	1	6	1	0	0	0	0	1	0	0	0	2320	623	22	3	27	3	C5orf58	5	169661164	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	28977937	169661164	11254096	96	757											
MXD3	83463	broad.mit.edu	37	5	176738408	176738408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr5:176738408delG	ENST00000439742.2	-	2	626	c.148delC	c.(148-150)cagfs	p.Q50fs	MXD3_ENST00000423571.2_Frame_Shift_Del_p.Q50fs|MXD3_ENST00000427908.2_Frame_Shift_Del_p.Q50fs|MXD3_ENST00000513063.1_Frame_Shift_Del_p.Q50fs	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	50					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)			CCAGGAGCCTGGGGGGGTCGC	0.746																																					p.Q50fs													.	MXD3	13	0			c.148delC						.		,	47,3785		20,7,1889	4	4	4		,	3.8	0.7	5		3	71,7395		26,19,3688	no	frameshift,frameshift	MXD3	NM_031300.3,NM_001142935.1	,	46,26,5577	A1A1,A1R,RR		0.951,1.2265,1.0444	,	,	176738408	118,11180	2054	4014	6068	SO:0001589	frameshift_variant	83463	exon2			GAGCCTGGGGGGG	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.148delC	5.37:g.176738408delG	ENSP00000401867:p.Gln50fs	6	0		12	4	NM_001142935	B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Frame_Shift_Del	DEL	ENST00000439742.2	37	CCDS4416.1																																																																																			.		0.746	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			-	176738408	G	-	176738408	7	5	6	1	0	1	0	1	0	0	0	0	10038	1357	47	0	573	0	MXD3	5	176738408	Frame_Shift_Del	DEL	G	TCGA-4G-AAZO-01A-12D-A417-09	7077244	176738408	4176852	97	758											
F13A1	2162	hgsc.bcm.edu	37	6	6305670	6305670	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:6305670C>T	ENST00000264870.3	-	3	498	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	78					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R78L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTGCCCTCTGCGGACAATCAG	0.478																																					p.R78H		.											F13A1,NS,adenocarcinoma,0,2	F13A1	0	1	Substitution - Missense(1)	lung(1)	c.G233A	GRCh37	CM040029	F13A1	M		.						272	212	232					6																	6305670		2203	4300	6503	SO:0001583	missense	2162	exon3			CCTCTGCGGACAA	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.233G>A	6.37:g.6305670C>T	ENSP00000264870:p.Arg78His	55	0		47	2	NM_000129	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.158952|4.158952	0.78226|0.78226	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000451619|ENST00000264870;ENST00000414279;ENST00000431222	.|D;D	.|0.98947	.|-5.26;-5.26	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99245|0.99245	0.9737|0.9737	M|M	0.88640|0.88640	2.97|2.97	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99537|0.99537	1.0962|1.0962	5|10	.|0.87932	.|D	.|0	.|.	16.8495|16.8495	0.85990|0.85990	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|78	.|P00488	.|F13A_HUMAN	T|H	103|78;78;116	.|ENSP00000264870:R78H;ENSP00000413334:R78H	.|ENSP00000264870:R78H	A|R	-|-	1|2	0|0	F13A1|F13A1	6250669|6250669	1.000000|1.000000	0.71417|0.71417	0.335000|0.335000	0.25508|0.25508	0.774000|0.774000	0.43823|0.43823	5.980000|5.980000	0.70516|0.70516	2.572000|2.572000	0.86782|0.86782	0.585000|0.585000	0.79938|0.79938	GCA|CGC	.		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		T	6305670	C	T	6305670	3	4	6	1	0	0	0	0	1	0	0	0	5356	768	27	1	2017	1	F13A1	6	6305670	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		6305670	164809397	98	759											
RREB1	6239	bcgsc.ca	37	6	7187719	7187719	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:7187719G>T	ENST00000349384.6	+	5	538	c.224G>T	c.(223-225)tGc>tTc	p.C75F	RREB1_ENST00000379933.3_Missense_Mutation_p.C75F|RREB1_ENST00000334984.6_Missense_Mutation_p.C75F|RREB1_ENST00000379938.2_Missense_Mutation_p.C75F|RP11-405O10.2_ENST00000451355.2_RNA|Y_RNA_ENST00000364613.1_RNA	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	75					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)				GAGAAGATTTGCACTACCCAG	0.338																																					p.C75F													.	RREB1	242	0			c.G224T						.						73	70	71					6																	7187719		2203	4300	6503	SO:0001583	missense	6239	exon5			AGATTTGCACTAC	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.224G>T	6.37:g.7187719G>T	ENSP00000305560:p.Cys75Phe	93	0		71	4	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144308	0.57044	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T;T	0.61627	1.22;0.09;1.22;0.09;1.22;1.22;1.22	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.64402	D	0.000002	T	0.27559	0.0677	N	0.00465	-1.465	0.80722	D	1	P;P;D	0.89917	0.797;0.831;1.0	P;P;D	0.91635	0.573;0.777;0.999	T	0.50294	-0.8845	10	0.02654	T	1	-31.3066	19.1188	0.93353	0.0:0.0:1.0:0.0	.	75;75;75	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	F	75	ENSP00000369265:C75F;ENSP00000420519:C75F;ENSP00000369270:C75F;ENSP00000420299:C75F;ENSP00000305560:C75F;ENSP00000335574:C75F;ENSP00000419511:C75F	ENSP00000335574:C75F	C	+	2	0	RREB1	7132718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.921000	0.92784	2.517000	0.84864	0.655000	0.94253	TGC	.		0.338	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7187719	G	T	7187719	3	4	6	1	0	0	0	0	1	0	0	0	13724	1319	46	3	230	3	RREB1	6	7187719	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	882049	7187719	163927348	99	760											
GPLD1	2822	hgsc.bcm.edu	37	6	24448239	24448239	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:24448239C>A	ENST00000230036.1	-	17	1654	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	515					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						CAAGAGAGTCCAGCCCAAGTT	0.512																																					p.W515L		.											.	.	.	0			c.G1544T						.						109	98	102					6																	24448239		2203	4300	6503	SO:0001583	missense	2822	exon17			AGAGTCCAGCCCA	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.1544G>T	6.37:g.24448239C>A	ENSP00000230036:p.Trp515Leu	54	0		73	3	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640687	0.67244	.	.	ENSG00000112293	ENST00000230036	T	0.68025	-0.3	4.92	4.92	0.64577	.	0.087857	0.50627	D	0.000103	T	0.75280	0.3828	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73004	-0.4119	10	0.35671	T	0.21	-11.8505	18.0885	0.89466	0.0:1.0:0.0:0.0	.	515	P80108	PHLD_HUMAN	L	515	ENSP00000230036:W515L	ENSP00000230036:W515L	W	-	2	0	GPLD1	24556218	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	4.945000	0.63568	2.435000	0.82474	0.655000	0.94253	TGG	.		0.512	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		A	24448239	C	A	24448239	3	1	6	1	0	0	0	0	1	0	0	0	6640	595	21	3	1014	3	GPLD1	6	24448239	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	17260520	24448239	146666828	100	761											
VARS	7407	hgsc.bcm.edu	37	6	31752382	31752382	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:31752382G>T	ENST00000375663.3	-	11	1897	c.1457C>A	c.(1456-1458)tCt>tAt	p.S486Y	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Missense_Mutation_p.S191Y	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	486					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)	p.S486C(1)		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)	CTCAATGTCAGAGATGGCGGA	0.592																																					p.S486Y		.											VARS,NS,carcinoma,0,1	VARS	0	1	Substitution - Missense(1)	lung(1)	c.C1457A						.						95	80	85					6																	31752382		1511	2709	4220	SO:0001583	missense	7407	exon11			ATGTCAGAGATGG	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.1457C>A	6.37:g.31752382G>T	ENSP00000364815:p.Ser486Tyr	24	0		20	2	NM_006295	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869130	0.91587	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.52983	0.64;0.64	5.55	5.55	0.83447	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.073201	0.64402	D	0.000007	T	0.80949	0.4722	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89142	0.3517	10	0.87932	D	0	-8.2595	17.0061	0.86393	0.0:0.0:1.0:0.0	.	486	P26640	SYVC_HUMAN	Y	486;191	ENSP00000364815:S486Y;ENSP00000398317:S191Y	ENSP00000364815:S486Y	S	-	2	0	VARS	31860361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.597000	0.87782	0.655000	0.94253	TCT	.		0.592	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		T	31752382	G	T	31752382	3	4	6	1	0	0	0	0	1	0	0	0	17172	942	33	3	2417	3	VARS	6	31752382	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	7304143	31752382	139362685	101	762											
SKIV2L	6499	hgsc.bcm.edu	37	6	31935499	31935499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:31935499C>A	ENST00000375394.2	+	22	2704	c.2591C>A	c.(2590-2592)tCg>tAg	p.S864*	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Nonsense_Mutation_p.S671*	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	864					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						CAGGTCTCCTCGAACTCCACC	0.582																																					p.S864X		.											SKIV2L_ENST00000375394,colon,carcinoma,0,2	SKIV2L_ENST00000375394	0	0			c.C2591A						.						78	91	87					6																	31935499		1510	2709	4219	SO:0001587	stop_gained	6499	exon22			TCTCCTCGAACTC		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.2591C>A	6.37:g.31935499C>A	ENSP00000364543:p.Ser864*	42	0		45	4	NM_006929	O15005|Q12902|Q15476|Q5ST66	Nonsense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	42	9.508728	0.99190	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	.	.	.	5.22	5.22	0.72569	.	0.239499	0.41294	D	0.000920	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8776	16.043	0.80698	0.0:1.0:0.0:0.0	.	.	.	.	X	864;706;671	.	ENSP00000364543:S864X	S	+	2	0	SKIV2L	32043478	0.992000	0.36948	0.966000	0.40874	0.956000	0.61745	3.624000	0.54231	2.588000	0.87417	0.655000	0.94253	TCG	.		0.582	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31935499	C	A	31935499	4	1	6	1	0	0	0	0	0	1	0	0	14404	893	31	2	2677	2	SKIV2L	6	31935499	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	183117	31935499	139179568	102	763											
NOTCH4	4855	hgsc.bcm.edu;bcgsc.ca	37	6	32169249	32169249	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:32169249G>T	ENST00000375023.3	-	22	3922	c.3784C>A	c.(3784-3786)Cac>Aac	p.H1262N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1262					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						TTGTGGAAGTGATCATGGCAG	0.557																																					p.H1262N		.											.	.	.	0			c.C3784A						.						75	74	74					6																	32169249		1509	2709	4218	SO:0001583	missense	4855	exon22			GGAAGTGATCATG		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.3784C>A	6.37:g.32169249G>T	ENSP00000364163:p.His1262Asn	43	0		98	5	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211324	0.79240	.	.	ENSG00000204301	ENST00000375023	D	0.81739	-1.53	4.57	4.57	0.56435	Notch domain (4);	0.000000	0.41097	D	0.000942	T	0.68421	0.2999	L	0.55017	1.72	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.69829	-0.5039	10	0.51188	T	0.08	.	14.9337	0.70935	0.0:0.0:1.0:0.0	.	1262	Q99466	NOTC4_HUMAN	N	1262	ENSP00000364163:H1262N	ENSP00000364163:H1262N	H	-	1	0	NOTCH4	32277227	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	9.423000	0.97461	2.407000	0.81776	0.555000	0.69702	CAC	.		0.557	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32169249	G	T	32169249	3	4	6	1	0	0	0	0	1	0	0	0	10590	1290	45	3	2263	3	NOTCH4	6	32169249	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	233750	32169249	138945818	103	764											
ICK	22858	hgsc.bcm.edu;bcgsc.ca	37	6	52880912	52880912	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:52880912C>A	ENST00000350082.5	-	8	1146	c.800G>T	c.(799-801)tGg>tTg	p.W267L	ICK_ENST00000356971.3_Missense_Mutation_p.W267L	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CTTGGGATCCCACTGAAGCAT	0.418																																					p.W267L		.											.	.	.	0			c.G800T						.						134	131	132					6																	52880912		2203	4300	6503	SO:0001583	missense	22858	exon9			GGATCCCACTGAA	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.800G>T	6.37:g.52880912C>A	ENSP00000263043:p.Trp267Leu	58	0		79	4	NM_016513	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262298	0.95368	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.38722	1.12;1.12	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	N	0.00996	-1.065	0.80722	D	1	D;D	0.67145	0.996;0.966	D;D	0.64687	0.923;0.928	T	0.60306	-0.7289	10	0.52906	T	0.07	-0.0204	19.8389	0.96675	0.0:1.0:0.0:0.0	.	267;267	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	L	267	ENSP00000263043:W267L;ENSP00000349458:W267L	ENSP00000263043:W267L	W	-	2	0	ICK	52988871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.574000	0.82434	2.755000	0.94549	0.650000	0.86243	TGG	.		0.418	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		A	52880912	C	A	52880912	3	1	6	1	0	0	0	0	1	0	0	0	7511	595	21	3	1126	3	ICK	6	52880912	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	20711663	52880912	118234155	104	765											
KLHL31	401265	hgsc.bcm.edu	37	6	53519311	53519311	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:53519311G>T	ENST00000407079.1	-	1	759	c.760C>A	c.(760-762)Ctt>Att	p.L254I	KLHL31_ENST00000370905.3_Missense_Mutation_p.L254I			Q9H511	KLH31_HUMAN	kelch-like family member 31	254	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.L254I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCTCAAAAGATCTGCAGCG	0.388																																					p.L254I		.											KLHL31,NS,carcinoma,0,1	KLHL31	0	1	Substitution - Missense(1)	lung(1)	c.C760A						.						134	129	131					6																	53519311		2203	4300	6503	SO:0001583	missense	401265	exon2			TCAAAAGATCTGC		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.760C>A	6.37:g.53519311G>T	ENSP00000384644:p.Leu254Ile	60	0		43	2	NM_001003760	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342623	0.82022	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.72051	-0.62;-0.62	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	T	0.80259	-0.1457	10	0.72032	D	0.01	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	254	Q9H511	KLH31_HUMAN	I	254	ENSP00000359942:L254I;ENSP00000384644:L254I	ENSP00000359942:L254I	L	-	1	0	KLHL31	53627270	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.756000	0.94617	0.561000	0.74099	CTT	.		0.388	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		T	53519311	G	T	53519311	3	4	6	1	0	0	0	0	1	0	0	0	8412	942	33	3	1152	3	KLHL31	6	53519311	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	638399	53519311	117595756	105	766											
CD109	135228	hgsc.bcm.edu	37	6	74492445	74492445	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:74492445C>A	ENST00000287097.5	+	18	2184	c.2072C>A	c.(2071-2073)cCa>cAa	p.P691Q	CD109_ENST00000422508.2_Missense_Mutation_p.P614Q|CD109_ENST00000437994.2_Missense_Mutation_p.P691Q			Q6YHK3	CD109_HUMAN	CD109 molecule	691	Bait region (approximate). {ECO:0000250}.				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)	p.P691L(1)		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						AAGCATTTTCCAGAGACTTGG	0.363																																					p.P691Q		.											CD109,NS,carcinoma,0,1	CD109	0	1	Substitution - Missense(1)	lung(1)	c.C2072A						.						141	133	136					6																	74492445		2203	4300	6503	SO:0001583	missense	135228	exon18			ATTTTCCAGAGAC	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.2072C>A	6.37:g.74492445C>A	ENSP00000287097:p.Pro691Gln	91	0		48	2	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612890	0.87258	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.36699	1.24;1.5;1.26	4.58	4.58	0.56647	.	0.195509	0.43747	D	0.000522	T	0.38401	0.1039	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.87578	0.928;0.998;0.978	T	0.46789	-0.9166	10	0.87932	D	0	.	17.9462	0.89039	0.0:1.0:0.0:0.0	.	614;691;691	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	Q	691;614;691	ENSP00000388062:P691Q;ENSP00000404475:P614Q;ENSP00000287097:P691Q	ENSP00000287097:P691Q	P	+	2	0	CD109	74549166	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.171000	0.71926	2.532000	0.85374	0.650000	0.86243	CCA	.		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		A	74492445	C	A	74492445	3	1	6	1	0	0	0	0	1	0	0	0	2970	594	21	3	2142	3	CD109	6	74492445	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	20973134	74492445	96622622	106	767											
ZNF292	23036	ucsc.edu;bcgsc.ca	37	6	87969651	87969651	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:87969651C>A	ENST00000369577.3	+	8	6347	c.6304C>A	c.(6304-6306)Ctt>Att	p.L2102I	ZNF292_ENST00000339907.4_Missense_Mutation_p.L2097I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2102						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)		TTCCCAATCCCTTGAGTTTCC	0.408																																					p.L2102I													.	ZNF292	479	0			c.C6304A						.						83	85	85					6																	87969651		1883	4094	5977	SO:0001583	missense	23036	exon8			CAATCCCTTGAGT	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.6304C>A	6.37:g.87969651C>A	ENSP00000358590:p.Leu2102Ile	71	0		41	4	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404818	0.11754	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07021	3.23;3.24	5.77	2.99	0.34606	.	0.667620	0.16522	N	0.210763	T	0.01695	0.0054	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48293	-0.9048	10	0.20519	T	0.43	.	4.8713	0.13635	0.1495:0.6178:0.0:0.2327	.	2102	O60281	ZN292_HUMAN	I	2102;2097	ENSP00000358590:L2102I;ENSP00000342847:L2097I	ENSP00000342847:L2097I	L	+	1	0	ZNF292	88026370	0.000000	0.05858	0.112000	0.21494	0.984000	0.73092	-0.464000	0.06688	0.341000	0.23771	0.655000	0.94253	CTT	.		0.408	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		A	87969651	C	A	87969651	3	1	6	1	0	0	0	0	1	0	0	0	17874	681	24	3	6334	3	ZNF292	6	87969651	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	13477206	87969651	83145416	107	768											
LAMA2	3908	bcgsc.ca	37	6	129588265	129588265	+	Silent	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:129588265G>A	ENST00000421865.2	+	16	2272	c.2223G>A	c.(2221-2223)agG>agA	p.R741R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	741	Laminin EGF-like 5; second part. {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)		GTTGGCCTAGGCACAGGCGAG	0.443																																					p.R741R													.	LAMA2	481	0			c.G2223A						.						287	250	263					6																	129588265		2203	4300	6503	SO:0001819	synonymous_variant	3908	exon16			GCCTAGGCACAGG	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.2223G>A	6.37:g.129588265G>A		35	0		12	3	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																			.		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129588265	G	A	129588265	2	1	6	1	0	0	0	0	0	0	0	1	8634	1194	42	3		3	LAMA2	6	129588265	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	41618614	129588265	41526802	108	769											
AHI1	54806	hgsc.bcm.edu	37	6	135763821	135763821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:135763821G>T	ENST00000367800.4	-	12	2027	c.1811C>A	c.(1810-1812)tCa>tAa	p.S604*	AHI1_ENST00000327035.6_Nonsense_Mutation_p.S604*|AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000457866.2_Nonsense_Mutation_p.S604*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	604					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGCATTTAGTGAGAAGAGGTG	0.368																																					p.S604X		.											.	.	.	0			c.C1811A						.						63	56	58					6																	135763821		1835	4093	5928	SO:0001587	stop_gained	54806	exon13			TTTAGTGAGAAGA	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1811C>A	6.37:g.135763821G>T	ENSP00000356774:p.Ser604*	197	0		95	4	NM_001134832	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.487913|7.487913	0.98316|0.98316	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.069173	.|0.64402	.|D	.|0.000011	T|.	0.32406|.	0.0828|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32025|.	-0.9922|.	4|.	.|0.02654	.|T	.|1	-12.3066|-12.3066	19.6984|19.6984	0.96043|0.96043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	104|604	.|.	.|ENSP00000265602:S604X	H|S	-|-	1|2	0|0	AHI1|AHI1	135805514|135805514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.593000|6.593000	0.74100|0.74100	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	CAC|TCA	.		0.368	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		T	135763821	G	T	135763821	4	4	6	1	0	0	0	0	0	1	0	0	413	1294	45	3	1900	3	AHI1	6	135763821	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	6175556	135763821	35351246	109	770											
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	152647206	152647206	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:152647206C>A	ENST00000367255.5	-	80	15926	c.15325G>T	c.(15325-15327)Gca>Tca	p.A5109S	SYNE1_ENST00000423061.1_Missense_Mutation_p.A5038S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A5038S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5109S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5109					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)		TCTTCCCTTGCTTTCTGGTAA	0.388										HNSCC(10;0.0054)																											p.A5109S		.											.	.	.	0			c.G15325T						.						133	132	132					6																	152647206		2203	4300	6503	SO:0001583	missense	23345	exon80			CCCTTGCTTTCTG	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.15325G>T	6.37:g.152647206C>A	ENSP00000356224:p.Ala5109Ser	48	0		42	34	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	12.29	1.894650	0.33442	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	6.07	0.729	0.18266	.	0.094927	0.45867	D	0.000336	T	0.09379	0.0231	L	0.39020	1.185	0.80722	D	1	B;B;B;B	0.21147	0.052;0.017;0.017;0.029	B;B;B;B	0.18871	0.023;0.01;0.01;0.021	T	0.13282	-1.0515	10	0.14656	T	0.56	.	7.683	0.28524	0.2154:0.6037:0.0:0.1809	.	5109;5109;5109;5038	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5109;5038;5109;5038	ENSP00000356224:A5109S;ENSP00000396024:A5038S;ENSP00000265368:A5109S;ENSP00000390975:A5038S	ENSP00000265368:A5109S	A	-	1	0	SYNE1	152688899	0.000000	0.05858	0.788000	0.31933	0.928000	0.56348	-0.090000	0.11163	0.164000	0.19529	-0.152000	0.13540	GCA	.		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152647206	C	A	152647206	3	1	6	1	0	0	0	0	1	0	0	0	15492	797	28	3	11409	3	SYNE1	6	152647206	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	16883385	152647206	18467861	110	771											
SERAC1	84947	bcgsc.ca	37	6	158569934	158569934	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:158569934C>A	ENST00000367104.3	-	5	449	c.318G>T	c.(316-318)ttG>ttT	p.L106F	SERAC1_ENST00000367102.2_Missense_Mutation_p.L106F|SERAC1_ENST00000607000.1_Missense_Mutation_p.L106F|SERAC1_ENST00000367101.1_Missense_Mutation_p.L106F	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	106					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)		CTGATGTTGCCAATACTTTTC	0.328																																					p.L106F													.	SERAC1	31	0			c.G318T						.						172	136	148					6																	158569934		2203	4300	6503	SO:0001583	missense	84947	exon5			TGTTGCCAATACT	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.318G>T	6.37:g.158569934C>A	ENSP00000356071:p.Leu106Phe	60	0		44	4	NM_032861	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320108	0.23994	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.68624	-0.34;-0.34;-0.34	5.61	1.47	0.22746	.	0.211858	0.39475	N	0.001352	T	0.38134	0.1029	L	0.49455	1.56	0.48696	D	0.999693	B	0.09022	0.002	B	0.08055	0.003	T	0.46442	-0.9191	10	0.39692	T	0.17	-14.0598	4.7211	0.12918	0.1422:0.4188:0.0:0.439	.	106	Q96JX3	SRAC1_HUMAN	F	106	ENSP00000356069:L106F;ENSP00000356071:L106F;ENSP00000356068:L106F	ENSP00000356068:L106F	L	-	3	2	SERAC1	158489922	0.991000	0.36638	0.036000	0.18154	0.732000	0.41865	0.176000	0.16782	2.139000	0.66308	0.477000	0.44152	TTG	.		0.328	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		A	158569934	C	A	158569934	3	1	6	1	0	0	0	0	1	0	0	0	14119	593	21	3	1698	3	SERAC1	6	158569934	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	5922728	158569934	12545133	111	772											
MRPL18	29074	hgsc.bcm.edu	37	6	160218528	160218528	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr6:160218528C>A	ENST00000367034.4	+	3	571	c.449C>A	c.(448-450)cCg>cAg	p.P150Q	PNLDC1_ENST00000392167.3_5'Flank|PNLDC1_ENST00000610273.1_5'Flank|MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	150					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		CAACCAACCCCGTGGGAGGCA	0.418																																					p.P150Q		.											MRPL18,NS,carcinoma,0,1	MRPL18	0	0			c.C449A						.						79	73	75					6																	160218528		2203	4300	6503	SO:0001583	missense	29074	exon3			CAACCCCGTGGGA	AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"Mitochondrial ribosomal proteins / large subunits"	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.449C>A	6.37:g.160218528C>A	ENSP00000356001:p.Pro150Gln	79	0		46	3	NM_014161	Q5TAP9|Q9NZW8	Missense_Mutation	SNP	ENST00000367034.4	37	CCDS5270.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061361	0.55432	.	.	ENSG00000112110	ENST00000367034	T	0.46451	0.87	4.82	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.83692	2.655	0.43766	D	0.99628	D	0.55172	0.97	P	0.61592	0.891	T	0.53034	-0.8495	10	0.25751	T	0.34	-6.8474	12.8085	0.57628	0.0:0.9216:0.0:0.0784	.	150	Q9H0U6	RM18_HUMAN	Q	150	ENSP00000356001:P150Q	ENSP00000356001:P150Q	P	+	2	0	MRPL18	160138518	0.996000	0.38824	0.101000	0.21167	0.450000	0.32258	6.021000	0.70832	1.245000	0.43885	0.655000	0.94253	CCG	.		0.418	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1			A	160218528	C	A	160218528	3	1	6	1	0	0	0	0	1	0	0	0	9821	652	23	2	459	2	MRPL18	6	160218528	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1648594	160218528	10896539	112	773											
EIF3B	8662	hgsc.bcm.edu	37	7	2411439	2411439	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:2411439C>A	ENST00000360876.4	+	11	1698	c.1642C>A	c.(1642-1644)Cga>Aga	p.R548R	EIF3B_ENST00000397011.2_Silent_p.R548R	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)		TGAAATTTTCCGAATGAGGGA	0.408																																					p.R548R		.											.	.	.	0			c.C1642A						.						115	112	113					7																	2411439		2203	4300	6503	SO:0001819	synonymous_variant	8662	exon11			ATTTTCCGAATGA	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.1642C>A	7.37:g.2411439C>A		89	0		95	4	NM_001037283		Silent	SNP	ENST00000360876.4	37	CCDS5332.1																																																																																			.		0.408	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			A	2411439	C	A	2411439	2	1	6	1	0	0	0	0	0	0	0	1	5027	644	23	2		2	EIF3B	7	2411439	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		2411439	156727224	113	774											
FOXK1	221937	hgsc.bcm.edu;bcgsc.ca	37	7	4796750	4796750	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:4796750G>T	ENST00000328914.4	+	5	1176	c.1176G>T	c.(1174-1176)caG>caT	p.Q392H	FOXK1_ENST00000446823.1_Missense_Mutation_p.Q229H	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)		TCGTGGAACAGGCATTCCGGA	0.587																																					p.Q392H		.											.	.	.	0			c.G1176T						.						92	101	98					7																	4796750		2203	4300	6503	SO:0001583	missense	221937	exon5			GGAACAGGCATTC	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.1176G>T	7.37:g.4796750G>T	ENSP00000328720:p.Gln392His	75	0		81	4	NM_001037165		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891371	0.72524	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95656	-3.77;-3.77	5.8	3.98	0.46160	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96109	0.8732	L	0.52126	1.63	0.51767	D	0.999936	D;D	0.89917	0.996;1.0	D;D	0.87578	0.997;0.998	D	0.95231	0.8342	10	0.87932	D	0	.	8.8617	0.35261	0.2557:0.0:0.7443:0.0	.	392;229	P85037;P85037-2	FOXK1_HUMAN;.	H	229;156;392;275	ENSP00000394442:Q229H;ENSP00000328720:Q392H	ENSP00000328720:Q392H	Q	+	3	2	FOXK1	4763276	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.779000	0.47734	0.773000	0.33404	0.655000	0.94253	CAG	.		0.587	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			T	4796750	G	T	4796750	3	4	6	1	0	0	0	0	1	0	0	0	6038	991	35	3	1194	3	FOXK1	7	4796750	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2385311	4796750	154341913	114	775											
CYTH3	9265	hgsc.bcm.edu;bcgsc.ca	37	7	6226714	6226714	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:6226714C>A	ENST00000350796.3	-	4	352	c.216G>T	c.(214-216)atG>atT	p.M72I		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	72					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TCTTTCTTCCCATGGCTATCT	0.433																																					p.M72I		.											.	.	.	0			c.G216T						.						313	286	296					7																	6226714		2203	4300	6503	SO:0001583	missense	9265	exon4			TCTTCCCATGGCT	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.216G>T	7.37:g.6226714C>A	ENSP00000297044:p.Met72Ile	45	0		58	4	NM_004227	A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	8.280	0.815233	0.16607	.	.	ENSG00000008256	ENST00000350796	T	0.53640	0.61	5.36	5.36	0.76844	.	0.071925	0.85682	D	0.000000	T	0.20047	0.0482	N	0.00569	-1.365	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16364	-1.0405	10	0.26408	T	0.33	.	18.2057	0.89853	0.0:1.0:0.0:0.0	.	72	O43739-2	.	I	72	ENSP00000297044:M72I	ENSP00000297044:M72I	M	-	3	0	CYTH3	6193239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.373000	0.59537	2.651000	0.90000	0.655000	0.94253	ATG	.		0.433	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		A	6226714	C	A	6226714	3	1	6	1	0	0	0	0	1	0	0	0	4214	594	21	3	1023	3	CYTH3	7	6226714	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1429964	6226714	152911949	115	776											
ABCB5	340273	hgsc.bcm.edu	37	7	20766683	20766683	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:20766683G>T	ENST00000404938.2	+	22	3298	c.2646G>T	c.(2644-2646)gaG>gaT	p.E882D	ABCB5_ENST00000258738.6_Missense_Mutation_p.E437D	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	882	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						AAGCTTTGGAGAATATACGTA	0.328																																					p.E882D		.											ABCB5_ENST00000404938,bladder,carcinoma,0,2	ABCB5_ENST00000404938	0	0			c.G2646T						.						93	98	96					7																	20766683		2203	4300	6503	SO:0001583	missense	340273	exon22			TTTGGAGAATATA	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.2646G>T	7.37:g.20766683G>T	ENSP00000384881:p.Glu882Asp	53	0		47	3	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199980	0.38905	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.89939	-2.59;-2.59	4.54	1.62	0.23740	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.187601	0.35040	N	0.003500	D	0.85155	0.5632	L	0.56199	1.76	0.33295	D	0.56402	B;B;B	0.27951	0.116;0.006;0.195	B;B;B	0.37943	0.082;0.035;0.261	T	0.81311	-0.0990	10	0.45353	T	0.12	.	4.425	0.11498	0.2301:0.0:0.5956:0.1743	.	882;60;437	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	D	882;437	ENSP00000384881:E882D;ENSP00000258738:E437D	ENSP00000258738:E437D	E	+	3	2	ABCB5	20733208	0.977000	0.34250	1.000000	0.80357	0.991000	0.79684	-0.044000	0.12023	0.356000	0.24157	0.655000	0.94253	GAG	.		0.328	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		T	20766683	G	T	20766683	3	4	6	1	0	0	0	0	1	0	0	0	44	933	33	3	2769	3	ABCB5	7	20766683	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	14539969	20766683	138371980	116	777											
TBX20	57057	hgsc.bcm.edu	37	7	35271118	35271118	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:35271118C>A	ENST00000408931.3	-	6	1414	c.888G>T	c.(886-888)gaG>gaT	p.E296D		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	296					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription factor activity (GO:0003700)	p.E296D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CTCATTACCTCTCAATGTCAG	0.403																																					p.E296D		.											TBX20_ENST00000408931,colon,carcinoma,-1,1	TBX20_ENST00000408931	-1	1	Substitution - Missense(1)	central_nervous_system(1)	c.G888T						.						72	65	67					7																	35271118		2203	4300	6503	SO:0001583	missense	57057	exon6			TTACCTCTCAATG	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.888G>T	7.37:g.35271118C>A	ENSP00000386170:p.Glu296Asp	54	0		72	3	NM_001077653	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769369	0.49680	.	.	ENSG00000164532	ENST00000408931	D	0.88741	-2.42	5.46	4.39	0.52855	.	0.046709	0.85682	D	0.000000	D	0.82495	0.5049	N	0.24115	0.695	0.58432	D	0.999995	B	0.30033	0.266	B	0.35039	0.194	T	0.78783	-0.2069	10	0.22706	T	0.39	.	15.1133	0.72375	0.0:0.92:0.0:0.08	.	296	Q9UMR3	TBX20_HUMAN	D	296	ENSP00000386170:E296D	ENSP00000386170:E296D	E	-	3	2	TBX20	35237643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.077000	0.57598	2.554000	0.86153	0.511000	0.50034	GAG	.		0.403	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		A	35271118	C	A	35271118	3	1	6	1	0	0	0	0	1	0	0	0	15703	912	32	3	468	3	TBX20	7	35271118	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	14504435	35271118	123867545	117	778											
FIGNL1	63979	hgsc.bcm.edu;bcgsc.ca	37	7	50513283	50513283	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:50513283G>T	ENST00000419119.1	-	2	3256	c.1703C>A	c.(1702-1704)cCa>cAa	p.P568Q	FIGNL1_ENST00000395556.2_Missense_Mutation_p.P568Q|FIGNL1_ENST00000356889.4_Missense_Mutation_p.P568Q|FIGNL1_ENST00000433017.1_Missense_Mutation_p.P568Q			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	568					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGAAGCTTCTGGGAGGGGAAT	0.438																																					p.P568Q		.											.	.	.	0			c.C1703A						.						89	93	92					7																	50513283		2203	4300	6503	SO:0001583	missense	63979	exon4			GCTTCTGGGAGGG	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1703C>A	7.37:g.50513283G>T	ENSP00000410811:p.Pro568Gln	34	0		52	4	NM_001042762	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689275	0.88735	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.99098	-5.42;-5.42;-5.42;-5.42	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97448	1.0026	10	0.87932	D	0	-11.8311	19.8676	0.96824	0.0:0.0:1.0:0.0	.	568	Q6PIW4	FIGL1_HUMAN	Q	568	ENSP00000349356:P568Q;ENSP00000378924:P568Q;ENSP00000399997:P568Q;ENSP00000410811:P568Q	ENSP00000349356:P568Q	P	-	2	0	FIGNL1	50480777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.941000	0.99782	0.655000	0.94253	CCA	.		0.438	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		T	50513283	G	T	50513283	3	4	6	1	0	0	0	0	1	0	0	0	5914	1348	47	3	325	3	FIGNL1	7	50513283	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	15242165	50513283	108625380	118	779											
CCT6A	908	hgsc.bcm.edu	37	7	56119584	56119584	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:56119584C>A	ENST00000275603.4	+	1	262	c.43C>A	c.(43-45)Cga>Aga	p.R15R	CCT6A_ENST00000335503.3_Silent_p.R15R|PSPH_ENST00000395471.3_5'Flank|PSPH_ENST00000275605.3_5'Flank|CCT6A_ENST00000540286.1_Intron	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	15					'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)			CGAGGTGGCCCGAGCGCAGGC	0.667																																					p.R15R		.											.	.	.	0			c.C43A						.						9	9	9					7																	56119584		2139	4200	6339	SO:0001819	synonymous_variant	908	exon1			GTGGCCCGAGCGC	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.43C>A	7.37:g.56119584C>A		58	0		78	4	NM_001762	A6NCD2|Q3KP28|Q75LP4|Q96S46	Silent	SNP	ENST00000275603.4	37	CCDS5523.1																																																																																			.		0.667	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		A	56119584	C	A	56119584	2	1	6	1	0	0	0	0	0	0	0	1	2964	644	23	2		2	CCT6A	7	56119584	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	5606301	56119584	103019079	119	780											
ELN	2006	hgsc.bcm.edu	37	7	73470731	73470731	+	Silent	SNP	C	C	A	rs376496267		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:73470731C>A	ENST00000252034.7	+	20	1680	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P	ELN_ENST00000429192.1_Silent_p.P432P|ELN_ENST00000414324.1_Silent_p.P422P|ELN_ENST00000380584.4_Silent_p.P413P|ELN_ENST00000380553.4_Silent_p.P310P|ELN_ENST00000380575.4_Silent_p.P417P|ELN_ENST00000445912.1_Silent_p.P427P|ELN_ENST00000380576.5_Silent_p.P427P|ELN_ENST00000358929.4_Silent_p.P427P|ELN_ENST00000320399.6_Silent_p.P427P|ELN_ENST00000320492.7_Intron|ELN_ENST00000357036.5_Silent_p.P432P|ELN_ENST00000380562.4_Silent_p.P427P|ELN_ENST00000458204.1_Silent_p.P417P	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)				GAGGTGTTCCCGGAGTCGGAG	0.617			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																														p.P432P		.		Dom	yes		7	7q11.23	2006	elastin	yes	L	ELN,NS,carcinoma,0,1	ELN	0	0			c.C1296A						.						103	99	100					7																	73470731		2203	4300	6503	SO:0001819	synonymous_variant	2006	exon20			TGTTCCCGGAGTC		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.1281C>A	7.37:g.73470731C>A		39	0		37	3	NM_001081753	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																			.		0.617	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		A	73470731	C	A	73470731	2	1	6	1	0	0	0	0	0	0	0	1	5087	639	23	2		2	ELN	7	73470731	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	17351147	73470731	85667932	120	781											
CCL26	10344	ucsc.edu;bcgsc.ca	37	7	75401265	75401265	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:75401265A>G	ENST00000394905.2	-	3	387	c.130T>C	c.(130-132)Tgg>Cgg	p.W44R	CCL26_ENST00000005180.4_Missense_Mutation_p.W44R	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	44					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(3)	3						ACCCAGGTCCAGGGAAGGGGC	0.517																																					p.W44R													.	CCL26	5	0			c.T130C						.						101	96	98					7																	75401265		2203	4300	6503	SO:0001583	missense	10344	exon3			AGGTCCAGGGAAG	AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"Chemokine ligands", "Endogenous ligands"	10625	protein-coding gene	gene with protein product	"macrophage inflammatory protein 4-alpha", "small inducible cytokine A26", "CC chemokine IMAC", "chemokine N1", "thymic stroma chemokine-1", "eotaxin-3"	604697	"small inducible cytokine subfamily A (Cys-Cys), member 26"	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.130T>C	7.37:g.75401265A>G	ENSP00000378365:p.Trp44Arg	21	0		25	4	NM_006072	A0N0Q5|Q52LV8	Missense_Mutation	SNP	ENST00000394905.2	37	CCDS5578.1	.	.	.	.	.	.	.	.	.	.	A	0.690	-0.794834	0.02862	.	.	ENSG00000006606	ENST00000005180;ENST00000394905	T;T	0.04119	3.7;3.7	3.61	0.991	0.19813	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.177540	0.06214	N	0.685527	T	0.03178	0.0093	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.47971	-0.9075	9	0.24483	T	0.36	.	2.8556	0.05571	0.6575:0.0:0.1249:0.2176	.	44	Q9Y258	CCL26_HUMAN	R	44	ENSP00000005180:W44R;ENSP00000378365:W44R	ENSP00000005180:W44R	W	-	1	0	CCL26	75239201	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	0.025000	0.13577	0.095000	0.17434	0.329000	0.21502	TGG	.		0.517	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344900.1	NM_006072		G	75401265	A	G	75401265	3	3	6	1	0	0	0	0	1	0	0	0	2905	188	7	4	162	4	CCL26	7	75401265	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	1930534	75401265	83737398	121	782											
DNAJC2	27000	bcgsc.ca	37	7	102982346	102982346	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:102982346C>A	ENST00000379263.3	-	2	370	c.120G>T	c.(118-120)aaG>aaT	p.K40N	DNAJC2_ENST00000412522.1_Missense_Mutation_p.K40N|DNAJC2_ENST00000249270.7_Missense_Mutation_p.K40N	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	40					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TGTTTCTCCTCTTAACAAAAG	0.418																																					p.K40N													.	DNAJC2	46	0			c.G120T						.						102	93	96					7																	102982346		1853	4103	5956	SO:0001583	missense	27000	exon2			TCTCCTCTTAACA	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.120G>T	7.37:g.102982346C>A	ENSP00000368565:p.Lys40Asn	40	0		49	4	NM_001129887	A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.95|15.95	2.982890|2.982890	0.53827|0.53827	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000249270;ENST00000379263;ENST00000537811;ENST00000412522|ENST00000426036	T;T;T|.	0.21543|.	2.0;2.0;2.0|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Heat shock protein DnaJ, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70133|0.70133	0.3189|0.3189	L|L	0.50919|0.50919	1.6|1.6	0.58432|0.58432	D|D	0.999999|0.999999	B;D;P|.	0.76494|.	0.074;0.999;0.608|.	B;D;B|.	0.65233|.	0.043;0.933;0.261|.	T|T	0.67074|0.67074	-0.5762|-0.5762	10|5	0.26408|.	T|.	0.33|.	-6.3823|-6.3823	18.8548|18.8548	0.92247|0.92247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	40;40;40|.	Q99543-2;F2Z3H0;Q99543|.	.;.;DNJC2_HUMAN|.	N|I	40|29	ENSP00000249270:K40N;ENSP00000368565:K40N;ENSP00000406275:K40N|.	ENSP00000249270:K40N|.	K|R	-|-	3|2	2|0	DNAJC2|DNAJC2	102769582|102769582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.451000|5.451000	0.66632|0.66632	2.460000|2.460000	0.83146|0.83146	0.460000|0.460000	0.39030|0.39030	AAG|AGA	.		0.418	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			A	102982346	C	A	102982346	3	1	6	1	0	0	0	0	1	0	0	0	4653	912	32	3	1809	3	DNAJC2	7	102982346	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	27581081	102982346	56156317	122	783											
MGAM	8972	hgsc.bcm.edu	37	7	141754596	141754596	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:141754596C>A	ENST00000549489.2	+	27	3297	c.3202C>A	c.(3202-3204)Ctg>Atg	p.L1068M	MGAM_ENST00000475668.2_Missense_Mutation_p.L1068M	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1068	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)	p.L1068L(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAGTCCCTCTGAACATACC	0.433																																					p.L1068M		.											MGAM_ENST00000549489,NS,carcinoma,0,3	MGAM_ENST00000549489	0	4	Substitution - coding silent(4)	prostate(4)	c.C3202A						.						159	150	153					7																	141754596		1906	4114	6020	SO:0001583	missense	8972	exon27			GTCCCTCTGAACA	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.3202C>A	7.37:g.141754596C>A	ENSP00000447378:p.Leu1068Met	103	0		75	3	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683746	0.29872	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.33865	1.39	4.1	1.02	0.19986	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.31949	N	0.006814	T	0.42449	0.1203	M	0.73319	2.225	0.28662	N	0.906103	D	0.56746	0.977	P	0.54026	0.74	T	0.30822	-0.9965	10	0.39692	T	0.17	.	5.1464	0.14987	0.1457:0.5931:0.0:0.2611	.	1068	O43451	MGA_HUMAN	M	1068;1068;945	ENSP00000447378:L1068M	ENSP00000316431:L945M	L	+	1	2	MGAM	141401065	0.642000	0.27260	0.812000	0.32479	0.035000	0.12851	1.200000	0.32247	0.164000	0.19529	0.305000	0.20034	CTG	.		0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141754596	C	A	141754596	3	1	6	1	0	0	0	0	1	0	0	0	9579	912	32	3	3304	3	MGAM	7	141754596	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	38772250	141754596	17384067	123	784											
OR2A5	393046	hgsc.bcm.edu	37	7	143748127	143748127	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:143748127C>A	ENST00000408906.2	+	1	667	c.633C>A	c.(631-633)ctC>ctA	p.L211L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	211						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)					TGGGGCCGCTCTGCCTGGTGC	0.602																																					p.L211L		.											OR2A5,right_lower_lobe,carcinoma,0,1	OR2A5	0	0			c.C633A						.						126	129	128					7																	143748127		2012	4172	6184	SO:0001819	synonymous_variant	393046	exon1			GCCGCTCTGCCTG	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.633C>A	7.37:g.143748127C>A		53	0		44	2	NM_012365	B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																			.		0.602	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143748127	C	A	143748127	2	1	6	1	0	0	0	0	0	0	0	1	11020	900	32	3		3	OR2A5	7	143748127	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1993531	143748127	15390536	124	785											
NOS3	4846	hgsc.bcm.edu	37	7	150698924	150698924	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr7:150698924C>A	ENST00000484524.1	+	12	1518	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S	NOS3_ENST00000461406.1_Silent_p.S300S|NOS3_ENST00000297494.3_Silent_p.S506S|NOS3_ENST00000467517.1_Silent_p.S506S	NM_001160111.1	NP_001153583.1	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)		TGAAGATCTCCGCCTCGCTCA	0.662																																					p.S506S		.											NOS3,NS,carcinoma,0,1	NOS3	0	0			c.C1518A						.						55	53	54					7																	150698924		2203	4300	6503	SO:0001819	synonymous_variant	4846	exon12			GATCTCCGCCTCG		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	ENST00000484524.1:c.1518C>A	7.37:g.150698924C>A		24	0		31	3	NM_001160111	Q495E5	Silent	SNP	ENST00000484524.1	37	CCDS55182.1																																																																																			.		0.662	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		A	150698924	C	A	150698924	2	1	6	1	0	0	0	0	0	0	0	1	10583	639	23	2		2	NOS3	7	150698924	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	6950797	150698924	8439739	125	786											
CDCA2	157313	hgsc.bcm.edu;bcgsc.ca	37	8	25364722	25364722	+	Missense_Mutation	SNP	A	A	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:25364722A>T	ENST00000330560.3	+	15	3017	c.2540A>T	c.(2539-2541)aAt>aTt	p.N847I	CDCA2_ENST00000380665.3_Missense_Mutation_p.N832I|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	847					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)		TTGGAAAAAAATGGAAATCAC	0.393																																					p.N847I		.											.	.	.	0			c.A2540T						.						68	65	66					8																	25364722		2203	4300	6503	SO:0001583	missense	157313	exon15			AAAAAAATGGAAA	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.2540A>T	8.37:g.25364722A>T	ENSP00000328228:p.Asn847Ile	89	0		85	4	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835951	0.32421	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.31769	1.48;1.48	5.7	-8.7	0.00851	.	1.043780	0.07463	N	0.900914	T	0.16896	0.0406	L	0.38175	1.15	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.35450	-0.9788	10	0.48119	T	0.1	-0.7768	3.3881	0.07278	0.2832:0.3451:0.2833:0.0883	.	832;847	E9PEI0;Q69YH5	.;CDCA2_HUMAN	I	847;832;246	ENSP00000328228:N847I;ENSP00000370040:N832I	ENSP00000328228:N847I	N	+	2	0	CDCA2	25420639	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.221000	0.01216	-0.999000	0.03442	0.528000	0.53228	AAT	.		0.393	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		T	25364722	A	T	25364722	3	4	6	1	0	0	0	0	1	0	0	0	3093	101	4	5	2594	5	CDCA2	8	25364722	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09		25364722	120999300	126	787											
EXTL3	2137	broad.mit.edu	37	8	28573668	28573668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:28573668G>A	ENST00000220562.4	+	3	994	c.92G>A	c.(91-93)tGg>tAg	p.W31*	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	31					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)		CGCCTCACGTGGCTCAGCTTC	0.592																																					p.W31X													.	EXTL3	83	0			c.G92A						.						163	116	132					8																	28573668		2203	4300	6503	SO:0001587	stop_gained	2137	exon3			TCACGTGGCTCAG	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.92G>A	8.37:g.28573668G>A	ENSP00000220562:p.Trp31*	23	0		17	3	NM_001440	D3DST8|O00225|Q53XT3	Nonsense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	45	11.441247	0.99561	.	.	ENSG00000012232	ENST00000220562	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.0525	19.2363	0.93862	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	.	W	+	2	0	EXTL3	28629587	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	9.869000	0.99810	2.553000	0.86117	0.491000	0.48974	TGG	.		0.592	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		A	28573668	G	A	28573668	4	1	6	1	0	0	0	0	0	1	0	0	5343	1357	47	3	94	3	EXTL3	8	28573668	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3208946	28573668	117790354	127	788											
OPRK1	4986	hgsc.bcm.edu	37	8	54142028	54142028	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:54142028G>T	ENST00000265572.3	-	4	1269	c.972C>A	c.(970-972)agC>agA	p.S324R	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.S324R|OPRK1_ENST00000524278.1_Missense_Mutation_p.S235R	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	324					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)	p.S324R(1)		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)	TGGGATTCAGGCTACTGTTGG	0.512																																					p.S324R		.											OPRK1,NS,carcinoma,0,2	OPRK1	0	1	Substitution - Missense(1)	lung(1)	c.C972A						.						78	71	73					8																	54142028		2203	4300	6503	SO:0001583	missense	4986	exon4			ATTCAGGCTACTG		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.972C>A	8.37:g.54142028G>T	ENSP00000265572:p.Ser324Arg	32	0		18	2	NM_000912	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419620	0.83559	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.38560	1.13;1.13;1.13	5.8	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	H	0.94345	3.525	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.82210	-0.0570	10	0.87932	D	0	.	15.0098	0.71542	0.0683:0.0:0.9317:0.0	.	324	P41145	OPRK_HUMAN	R	324;235;324;310	ENSP00000265572:S324R;ENSP00000430923:S235R;ENSP00000429706:S324R	ENSP00000265572:S324R	S	-	3	2	OPRK1	54304581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.912000	0.63335	1.454000	0.47793	0.650000	0.86243	AGC	.		0.512	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			T	54142028	G	T	54142028	3	4	6	1	0	0	0	0	1	0	0	0	10924	1194	42	3	174	3	OPRK1	8	54142028	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	25568360	54142028	92221994	128	789											
XKR4	114786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	56015537	56015537	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:56015537C>A	ENST00000327381.6	+	1	589	c.489C>A	c.(487-489)agC>agA	p.S163R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	163						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)			AAGTGTTCAGCTTCCGCTGGT	0.652																																					p.S163R		.											.	.	.	0			c.C489A						.						50	35	40					8																	56015537		2202	4299	6501	SO:0001583	missense	114786	exon1			GTTCAGCTTCCGC	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.489C>A	8.37:g.56015537C>A	ENSP00000328326:p.Ser163Arg	24	0		20	6	NM_052898	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848488	0.51164	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.70516	-0.49	5.48	2.5	0.30297	.	0.218063	0.45867	D	0.000329	T	0.71143	0.3305	M	0.85630	2.765	0.42711	D	0.993646	B	0.15141	0.012	B	0.21917	0.037	T	0.70128	-0.4957	10	0.72032	D	0.01	-22.4931	8.7578	0.34656	0.2692:0.6603:0.0:0.0705	.	163	Q5GH76	XKR4_HUMAN	R	163	ENSP00000328326:S163R	ENSP00000328326:S163R	S	+	3	2	XKR4	56178091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.705000	0.37867	0.659000	0.30945	0.585000	0.79938	AGC	.		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		A	56015537	C	A	56015537	3	1	6	1	0	0	0	0	1	0	0	0	17482	796	28	3	491	3	XKR4	8	56015537	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1873509	56015537	90348485	129	790											
CA8	767	bcgsc.ca	37	8	61144922	61144922	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:61144922C>A	ENST00000317995.4	-	4	698	c.434G>T	c.(433-435)tGg>tTg	p.W145L	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	145					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)	AGTGGAGTTCCAGTGGATCAG	0.448																																					p.W145L													.	CA8	31	0			c.G434T						.						174	162	166					8																	61144922		2203	4300	6503	SO:0001583	missense	767	exon4			GAGTTCCAGTGGA	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.434G>T	8.37:g.61144922C>A	ENSP00000314407:p.Trp145Leu	38	0		28	3	NM_004056	A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854099	0.91355	.	.	ENSG00000178538	ENST00000317995	T	0.69306	-0.39	4.79	4.79	0.61399	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.134153	0.64402	D	0.000019	T	0.76111	0.3942	L	0.56340	1.77	0.80722	D	1	D	0.69078	0.997	P	0.59546	0.859	T	0.77595	-0.2529	10	0.51188	T	0.08	.	18.1848	0.89789	0.0:1.0:0.0:0.0	.	145	P35219	CAH8_HUMAN	L	145	ENSP00000314407:W145L	ENSP00000314407:W145L	W	-	2	0	CA8	61307476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.152000	0.77419	2.377000	0.81083	0.650000	0.86243	TGG	.		0.448	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			A	61144922	C	A	61144922	3	1	6	1	0	0	0	0	1	0	0	0	2530	595	21	3	458	3	CA8	8	61144922	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	5129385	61144922	85219100	130	791											
CPA6	57094	hgsc.bcm.edu	37	8	68658284	68658284	+	Silent	SNP	C	C	A	rs369835154		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:68658284C>A	ENST00000297770.4	-	1	296	c.81G>T	c.(79-81)ccG>ccT	p.P27P	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.P27P	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	27						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGCTGTGCCCCGGTTGCAGAA	0.527																																					p.P27P		.											CPA6,caecum,carcinoma,0,1	CPA6	0	0			c.G81T						.						47	46	46					8																	68658284		2203	4300	6503	SO:0001819	synonymous_variant	57094	exon1			GTGCCCCGGTTGC	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.81G>T	8.37:g.68658284C>A		49	0		31	3	NM_020361	Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	CCDS6200.1																																																																																			.		0.527	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		A	68658284	C	A	68658284	2	1	6	1	0	0	0	0	0	0	0	1	3801	639	23	2		2	CPA6	8	68658284	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	7513362	68658284	77705738	131	792											
ZFHX4	79776	hgsc.bcm.edu;bcgsc.ca	37	8	77617104	77617104	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:77617104G>T	ENST00000521891.2	+	2	1229	c.781G>T	c.(781-783)Gac>Tac	p.D261Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D261Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D261Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D261Y|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	261					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)			TAACAATGTGGACTTGTCCAA	0.418										HNSCC(33;0.089)																											p.D261Y		.											ZFHX4,colon,carcinoma,0,1	ZFHX4	0	0			c.G781T						.						193	190	191					8																	77617104		2121	4272	6393	SO:0001583	missense	79776	exon2			AATGTGGACTTGT		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.781G>T	8.37:g.77617104G>T	ENSP00000430497:p.Asp261Tyr	111	0		87	4	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102809	0.37145	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56103	0.48;0.51;0.48;0.48	5.43	5.43	0.79202	.	0.000000	0.47093	U	0.000256	T	0.72653	0.3487	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.73795	-0.3870	10	0.72032	D	0.01	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	261;261;261;261	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Y	261	ENSP00000430497:D261Y;ENSP00000399605:D261Y;ENSP00000050961:D261Y;ENSP00000430848:D261Y	ENSP00000050961:D261Y	D	+	1	0	ZFHX4	77779659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.826000	0.97356	0.655000	0.94253	GAC	.		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77617104	G	T	77617104	3	4	6	1	0	0	0	0	1	0	0	0	17683	1174	41	3	783	3	ZFHX4	8	77617104	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	8958820	77617104	68746918	132	793											
ZFAND1	79752	hgsc.bcm.edu;bcgsc.ca	37	8	82626157	82626157	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:82626157G>T	ENST00000220669.5	-	6	494	c.476C>A	c.(475-477)cCa>cAa	p.P159Q	ZFAND1_ENST00000521287.1_Missense_Mutation_p.P52Q|ZFAND1_ENST00000523096.1_Missense_Mutation_p.P159Q|ZFAND1_ENST00000521895.1_Missense_Mutation_p.P52Q|ZFAND1_ENST00000519523.1_Missense_Mutation_p.P159Q|ZFAND1_ENST00000517588.1_Missense_Mutation_p.P52Q|ZFAND1_ENST00000522520.1_Missense_Mutation_p.P52Q	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	159							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ACCAACCTGTGGTAATGACTT	0.353																																					p.P159Q		.											.	.	.	0			c.C476A						.						152	136	142					8																	82626157		2203	4300	6503	SO:0001583	missense	79752	exon6			ACCTGTGGTAATG		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.476C>A	8.37:g.82626157G>T	ENSP00000220669:p.Pro159Gln	86	0		102	5	NM_001170796	E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127130	0.94429	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.963	D	0.87902	0.2691	9	0.87932	D	0	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	159;159	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	Q	159;159;52;52;52;52;52;159;52;52;52;52	.	ENSP00000220669:P159Q	P	-	2	0	ZFAND1	82788712	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.510000	0.90532	2.714000	0.92807	0.650000	0.86243	CCA	.		0.353	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		T	82626157	G	T	82626157	3	4	6	1	0	0	0	0	1	0	0	0	17674	1348	47	3	390	3	ZFAND1	8	82626157	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	5009053	82626157	63737865	133	794											
ASAP1	50807	bcgsc.ca	37	8	131070296	131070296	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:131070296C>A	ENST00000518721.1	-	29	3446	c.3219G>T	c.(3217-3219)aaG>aaT	p.K1073N	ASAP1_ENST00000357668.1_Missense_Mutation_p.K1073N	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1073	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CATAAATGGTCTTCACTCGCC	0.438																																					p.K1073N													.	ASAP1	133	0			c.G3219T						.						226	192	204					8																	131070296		2203	4300	6503	SO:0001583	missense	50807	exon29			AATGGTCTTCACT	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.3219G>T	8.37:g.131070296C>A	ENSP00000429900:p.Lys1073Asn	69	0		68	4	NM_018482	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152876|4.152876	0.78001|0.78001	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.32272	.|1.46;1.46	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Src homology-3 domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61060|0.61060	0.2317|0.2317	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.83275	.|0.996;0.996;0.996	T|T	0.68330|0.68330	-0.5437|-0.5437	5|10	.|0.87932	.|D	.|0	.|.	11.5603|11.5603	0.50772|0.50772	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	.|1073;1073;1076	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	Y|N	894;430|1076;1073;1073	.|ENSP00000350297:K1073N;ENSP00000429900:K1073N	.|ENSP00000344591:K1076N	D|K	-|-	1|3	0|2	ASAP1|ASAP1	131139478|131139478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	2.663000|2.663000	0.46774|0.46774	2.493000|2.493000	0.84123|0.84123	0.655000|0.655000	0.94253|0.94253	GAC|AAG	.		0.438	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		A	131070296	C	A	131070296	3	1	6	1	0	0	0	0	1	0	0	0	1011	912	32	3	178	3	ASAP1	8	131070296	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	48444139	131070296	15293726	134	795											
TSNARE1	203062	hgsc.bcm.edu;bcgsc.ca	37	8	143425475	143425475	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:143425475C>A	ENST00000307180.3	-	4	714	c.597G>T	c.(595-597)ctG>ctT	p.L199L	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.L199L|TSNARE1_ENST00000524325.1_Silent_p.L199L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	199					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)					GGAGGTCGCCCAGCTTGCGCC	0.692																																					p.L199L		.											.	.	.	0			c.G597T						.						30	31	30					8																	143425475		2199	4293	6492	SO:0001819	synonymous_variant	203062	exon4			GTCGCCCAGCTTG			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.597G>T	8.37:g.143425475C>A		63	0		57	4	NM_145003	B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	CCDS6384.1																																																																																			.		0.692	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143425475	C	A	143425475	2	1	6	1	0	0	0	0	0	0	0	1	16678	581	21	3		3	TSNARE1	8	143425475	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	12355179	143425475	2938547	135	796											
SLURP1	57152	hgsc.bcm.edu	37	8	143823221	143823221	+	Splice_Site	SNP	C	C	A	rs200727790		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:143823221C>A	ENST00000246515.1	-	2	203	c.178G>T	c.(178-180)Gag>Tag	p.E60*		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	60	UPAR/Ly6.				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)	p.E60*(1)		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)					CTGGCCTCACCTGCCTCCACC	0.662																																					p.E60X		.											SLURP1,NS,carcinoma,0,1	SLURP1	0	1	Substitution - Nonsense(1)	lung(1)	c.G178T						.						84	73	77					8																	143823221		2203	4300	6503	SO:0001630	splice_region_variant	57152	exon2			CCTCACCTGCCTC	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.178+1G>T	8.37:g.143823221C>A		81	0		87	4	NM_020427	Q53YJ6|Q6PUA6|Q92483	Nonsense_Mutation	SNP	ENST00000246515.1	37	CCDS6387.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995585	0.74703	.	.	ENSG00000126233	ENST00000246515	.	.	.	4.17	4.17	0.49024	.	0.489617	0.17603	N	0.168354	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.4654	12.2983	0.54860	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	.	E	-	1	0	SLURP1	143820223	0.313000	0.24554	0.873000	0.34254	0.076000	0.17211	2.122000	0.41987	2.028000	0.59812	0.462000	0.41574	GAG	.		0.662	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379741.1	NM_020427	Nonsense_Mutation	A	143823221	C	A	143823221	5	1	6	1	0	0	0	0	0	0	1	0	14801	695	24	3	141	3	SLURP1	8	143823221	Splice_Site	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	397746	143823221	2540801	136	797											
GRINA	2907	bcgsc.ca	37	8	145065564	145065564	+	Missense_Mutation	SNP	C	C	A	rs377024859		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr8:145065564C>A	ENST00000313269.5	+	2	451	c.173C>A	c.(172-174)cCc>cAc	p.P58H	GRINA_ENST00000395068.4_Missense_Mutation_p.P58H	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	58	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	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)			CCAGGGTACCCCCATGGCCCC	0.701																																					p.P58H													.	GRINA	25	0			c.C173A						.						6	8	7					8																	145065564		2083	4128	6211	SO:0001583	missense	2907	exon2			GGTACCCCCATGG	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.173C>A	8.37:g.145065564C>A	ENSP00000314380:p.Pro58His	39	0		39	4	NM_001009184	B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115698	0.56505	.	.	ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000530898;ENST00000537637	T;T;T	0.24538	1.87;1.85;1.87	4.86	4.86	0.63082	.	0.141102	0.46758	D	0.000263	T	0.42607	0.1210	L	0.47190	1.495	0.43118	D	0.994833	D	0.89917	1.0	D	0.85130	0.997	T	0.09862	-1.0655	10	0.21540	T	0.41	-22.0463	15.8798	0.79195	0.0:1.0:0.0:0.0	.	58	Q7Z429	GRINA_HUMAN	H	58;58;58;58;39	ENSP00000314380:P58H;ENSP00000432706:P58H;ENSP00000378507:P58H	ENSP00000314380:P58H	P	+	2	0	GRINA	145137552	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.323000	0.52014	2.422000	0.82143	0.567000	0.79289	CCC	.		0.701	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		A	145065564	C	A	145065564	3	1	6	1	0	0	0	0	1	0	0	0	6812	623	22	3	175	3	GRINA	8	145065564	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1242343	145065564	1298458	137	798											
CDC37L1	55664	bcgsc.ca	37	9	4684988	4684988	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:4684988G>T	ENST00000381854.3	+	2	446	c.244G>T	c.(244-246)Gca>Tca	p.A82S	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Missense_Mutation_p.A82S	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	82	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)		TGGTAGCTTAGCACTGCATAA	0.458																																					p.A82S													.	CDC37L1	19	0			c.G244T						.						138	130	133					9																	4684988		2203	4300	6503	SO:0001583	missense	55664	exon2			AGCTTAGCACTGC	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.244G>T	9.37:g.4684988G>T	ENSP00000371278:p.Ala82Ser	44	0		29	3	NM_017913	B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	37	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571364	0.65765	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.45276	0.91;0.9	5.73	5.73	0.89815	.	0.150288	0.64402	D	0.000013	T	0.33527	0.0866	N	0.24115	0.695	0.49130	D	0.999755	B	0.14805	0.011	B	0.19946	0.027	T	0.08806	-1.0704	10	0.19147	T	0.46	-2.9593	19.9134	0.97033	0.0:0.0:1.0:0.0	.	82	Q7L3B6	CD37L_HUMAN	S	82	ENSP00000371282:A82S;ENSP00000371278:A82S	ENSP00000371278:A82S	A	+	1	0	CDC37L1	4674988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.778000	0.75043	2.708000	0.92522	0.467000	0.42956	GCA	.		0.458	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		T	4684988	G	T	4684988	3	4	6	1	0	0	0	0	1	0	0	0	3076	971	34	3	250	3	CDC37L1	9	4684988	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		4684988	136528443	138	799											
AQP7	364	hgsc.bcm.edu	37	9	33385274	33385274	+	3'UTR	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:33385274C>A	ENST00000537089.1	-	0	1158				AQP7_ENST00000377425.4_Intron			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)		CACCCACCACCAGTTCTCCCC	0.612																																					p.W253L		.											AQP7,NS,carcinoma,0,1	AQP7	0	0			c.G758T						.						65	68	67					9																	33385274		2202	4300	6502	SO:0001624	3_prime_UTR_variant	364	exon8			CACCACCAGTTCT	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.*342G>T	9.37:g.33385274C>A		86	0		79	4	NM_001170	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	c	16.63	3.178069	0.57692	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000439678	T;T;T	0.11930	2.73;2.73;2.73	4.27	4.27	0.50696	Aquaporin-like (2);	0.460401	0.28301	N	0.015842	T	0.15609	0.0376	.	.	.	0.80722	D	1	B	0.24426	0.103	B	0.32980	0.156	T	0.04870	-1.0921	9	0.62326	D	0.03	-8.5196	12.1166	0.53868	0.0:1.0:0.0:0.0	.	253	O14520	AQP7_HUMAN	L	252;253;161	ENSP00000368821:W252L;ENSP00000297988:W253L;ENSP00000410138:W161L	ENSP00000297988:W253L	W	-	2	0	AQP7	33375274	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.278000	0.78587	2.235000	0.73313	0.537000	0.68136	TGG	.		0.612	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33385274	C	A	33385274	1	1	6	0	1	0	0	0	0	0	0	0	831	595	21	3		3	AQP7	9	33385274	3'UTR	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	28700286	33385274	107828157	139	800											
C9orf131	138724	hgsc.bcm.edu	37	9	35043842	35043842	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:35043842G>T	ENST00000312292.5	+	2	1263	c.1216G>T	c.(1216-1218)Gat>Tat	p.D406Y	C9orf131_ENST00000354479.5_Missense_Mutation_p.D333Y|C9orf131_ENST00000421362.2_Missense_Mutation_p.D358Y|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	406										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TTCCCTGGAAGATCCATCCAG	0.537																																					p.D406Y		.											C9orf131,NS,carcinoma,0,1	C9orf131	0	0			c.G1216T						.						74	83	80					9																	35043842		2203	4300	6503	SO:0001583	missense	138724	exon2			CTGGAAGATCCAT	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1216G>T	9.37:g.35043842G>T	ENSP00000308279:p.Asp406Tyr	49	0		35	2	NM_203299	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183346	0.38511	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.19105	2.17;2.17;2.18	4.37	1.45	0.22620	.	0.433346	0.19683	N	0.108473	T	0.17365	0.0417	L	0.49778	1.585	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.17433	0.018;0.018;0.018	T	0.20672	-1.0268	10	0.66056	D	0.02	-0.2828	5.6382	0.17548	0.1883:0.0:0.653:0.1587	.	406;333;358	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	Y	358;333;406	ENSP00000393683:D358Y;ENSP00000346472:D333Y;ENSP00000308279:D406Y	ENSP00000308279:D406Y	D	+	1	0	C9orf131	35033842	0.061000	0.20836	0.008000	0.14137	0.075000	0.17131	0.590000	0.23954	0.212000	0.20703	-2.067000	0.00394	GAT	.		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		T	35043842	G	T	35043842	3	4	6	1	0	0	0	0	1	0	0	0	2464	942	33	3	1238	3	C9orf131	9	35043842	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1658568	35043842	106169589	140	801											
TLN1	7094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35698454	35698454	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:35698454C>T	ENST00000314888.9	-	55	7590	c.7237G>A	c.(7237-7239)Gca>Aca	p.A2413T	TLN1_ENST00000540444.1_Missense_Mutation_p.A2301T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2413	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				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)			TGTACAGCTGCATTGGCTGCC	0.582																																					p.A2413T		.											.	.	.	0			c.G7237A						.						42	38	39					9																	35698454		2203	4300	6503	SO:0001583	missense	7094	exon55			CAGCTGCATTGGC	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.7237G>A	9.37:g.35698454C>T	ENSP00000316029:p.Ala2413Thr	17	0		14	4	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083390	0.55861	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.42900	0.96;0.96	5.18	5.18	0.71444	I/LWEQ (4);	0.184523	0.48286	D	0.000183	T	0.39436	0.1078	L	0.40543	1.245	0.41683	D	0.989309	B	0.22541	0.071	B	0.30029	0.11	T	0.15065	-1.0450	10	0.21540	T	0.41	-5.6061	18.5465	0.91048	0.0:1.0:0.0:0.0	.	2413	Q9Y490	TLN1_HUMAN	T	2413;2301	ENSP00000316029:A2413T;ENSP00000442981:A2301T	ENSP00000316029:A2413T	A	-	1	0	TLN1	35688454	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.501000	0.60393	2.698000	0.92095	0.650000	0.86243	GCA	.		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35698454	C	T	35698454	3	4	6	1	0	0	0	0	1	0	0	0	15994	710	25	3	400	3	TLN1	9	35698454	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	654612	35698454	105514977	141	802											
SMC5	23137	hgsc.bcm.edu	37	9	72967112	72967112	+	Silent	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:72967112G>A	ENST00000361138.5	+	25	3229	c.3171G>A	c.(3169-3171)ctG>ctA	p.L1057L	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1057					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)	p.L1057L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TACAGCTCCTGCAAAATCTTC	0.328																																					p.L1057L		.											SMC5,head_neck,malignant_melanoma,0,1	SMC5	0	1	Substitution - coding silent(1)	skin(1)	c.G3171A						.						72	74	73					9																	72967112		2203	4300	6503	SO:0001819	synonymous_variant	23137	exon25			GCTCCTGCAAAAT	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.3171G>A	9.37:g.72967112G>A		54	0		33	3	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	ENST00000361138.5	37	CCDS6632.1																																																																																			.		0.328	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		A	72967112	G	A	72967112	2	1	6	1	0	0	0	0	0	0	0	1	14831	1306	46	3		3	SMC5	9	72967112	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	37268658	72967112	68246319	142	803											
FANCC	2176	hgsc.bcm.edu;bcgsc.ca	37	9	97934327	97934327	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:97934327G>T	ENST00000289081.3	-	5	702	c.448C>A	c.(448-450)Ctt>Att	p.L150I	FANCC_ENST00000375305.1_Missense_Mutation_p.L150I|snoU13_ENST00000459065.1_RNA	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	150					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)				ACATTTTTAAGCAAACCAGGA	0.323			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.L150I		.	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	.	.	.	0			c.C448A						.						62	66	65					9																	97934327		2203	4298	6501	SO:0001583	missense	2176	exon5	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TTTTAAGCAAACC	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.448C>A	9.37:g.97934327G>T	ENSP00000289081:p.Leu150Ile	109	0		94	4	NM_001243743	B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646340	0.67358	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.55234	0.53;0.53;0.53	5.34	5.34	0.76211	.	0.141425	0.46145	D	0.000319	T	0.68155	0.2970	M	0.66939	2.045	0.34530	D	0.709147	D;D	0.71674	0.998;0.992	D;D	0.69307	0.963;0.939	T	0.76534	-0.2924	10	0.66056	D	0.02	-20.3743	12.6663	0.56844	0.0:0.1783:0.8217:0.0	.	150;150	B1ALR7;Q00597	.;FANCC_HUMAN	I	150	ENSP00000289081:L150I;ENSP00000364454:L150I;ENSP00000406908:L150I	ENSP00000289081:L150I	L	-	1	0	FANCC	96974148	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.925000	0.40074	2.937000	0.99478	0.650000	0.86243	CTT	.		0.323	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		T	97934327	G	T	97934327	3	4	6	1	0	0	0	0	1	0	0	0	5686	971	34	3	1272	3	FANCC	9	97934327	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	24967215	97934327	43279104	143	804											
TMEM38B	55151	hgsc.bcm.edu	37	9	108456998	108456998	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:108456998C>A	ENST00000374692.3	+	1	174	c.57C>A	c.(55-57)ccC>ccA	p.P19P		NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	19						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CCATGTTTCCCTTTTTTGACA	0.622																																					p.P19P		.											TMEM38B,caecum,carcinoma,0,1	TMEM38B	0	0			c.C57A						.						110	91	97					9																	108456998		2203	4300	6503	SO:0001819	synonymous_variant	55151	exon1			GTTTCCCTTTTTT	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.57C>A	9.37:g.108456998C>A		93	0		61	3	NM_018112	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	CCDS6768.1																																																																																			.		0.622	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		A	108456998	C	A	108456998	2	1	6	1	0	0	0	0	0	0	0	1	16207	668	24	3		3	TMEM38B	9	108456998	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	10522671	108456998	32756433	144	805											
TRIM32	22954	hgsc.bcm.edu	37	9	119461766	119461766	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:119461766G>T	ENST00000450136.1	+	2	1906	c.1745G>T	c.(1744-1746)tGt>tTt	p.C582F	TRIM32_ENST00000373983.2_Missense_Mutation_p.C582F|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	582					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTGGCATGTGTGTGGATGCT	0.527																																					p.C582F	Esophageal Squamous(92;212 1916 19711 26951)	.											TRIM32,NS,carcinoma,0,1	TRIM32	0	0			c.G1745T						.						114	107	109					9																	119461766		2203	4300	6503	SO:0001583	missense	22954	exon2			GCATGTGTGTGGA	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1745G>T	9.37:g.119461766G>T	ENSP00000408292:p.Cys582Phe	20	0		13	2	NM_012210	Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491262	0.64074	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.90197	-2.63;-2.63	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.69142	0.962	D	0.90234	0.4281	9	.	.	.	-9.6677	19.5873	0.95495	0.0:0.0:1.0:0.0	.	582	Q13049	TRI32_HUMAN	F	582	ENSP00000408292:C582F;ENSP00000363095:C582F	.	C	+	2	0	TRIM32	118501587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.610000	0.88304	0.650000	0.86243	TGT	.		0.527	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		T	119461766	G	T	119461766	3	4	6	1	0	0	0	0	1	0	0	0	16554	1377	48	3	1747	3	TRIM32	9	119461766	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	11004768	119461766	21751665	145	806											
FBXW2	26190	hgsc.bcm.edu	37	9	123550286	123550286	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:123550286G>T	ENST00000608872.1	-	3	438	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	FBXW2_ENST00000340778.5_Missense_Mutation_p.S84Y	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	84	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CCACTGTTTAGAGACGAGGCA	0.463																																					p.S84Y		.											FBXW2_ENST00000373926,NS,carcinoma,0,1	FBXW2_ENST00000373926	0	0			c.C251A						.						109	104	105					9																	123550286		1939	4152	6091	SO:0001583	missense	26190	exon3			TGTTTAGAGACGA	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.251C>A	9.37:g.123550286G>T	ENSP00000476369:p.Ser84Tyr	37	0		32	2	NM_012164	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953943	0.73902	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.53423	0.62;0.62	5.95	5.95	0.96441	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.049584	0.85682	D	0.000000	T	0.67832	0.2935	M	0.89414	3.03	0.53688	D	0.999976	P;D;P	0.55385	0.936;0.971;0.948	P;P;P	0.52109	0.466;0.69;0.601	T	0.74484	-0.3650	10	0.87932	D	0	-7.5316	17.887	0.88858	0.0:0.0:1.0:0.0	.	84;84;84	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	Y	84	ENSP00000363036:S84Y;ENSP00000341161:S84Y	ENSP00000341161:S84Y	S	-	2	0	FBXW2	122590107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.594000	0.67557	2.824000	0.97209	0.655000	0.94253	TCT	.		0.463	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			T	123550286	G	T	123550286	3	4	6	1	0	0	0	0	1	0	0	0	5788	942	33	3	1137	3	FBXW2	9	123550286	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	4088520	123550286	17663145	146	807											
SETX	23064	hgsc.bcm.edu	37	9	135202917	135202917	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:135202917G>T	ENST00000224140.5	-	10	4250	c.4068C>A	c.(4066-4068)ccC>ccA	p.P1356P	SETX_ENST00000372169.2_Silent_p.P1356P|SETX_ENST00000393220.1_Silent_p.P1356P	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1356					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)	p.P1356P(1)		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)		TTTGTGATTTGGGTCTGATCT	0.358																																					p.P1356P		.											SETX,NS,carcinoma,0,1	SETX	0	1	Substitution - coding silent(1)	lung(1)	c.C4068A						.						96	96	96					9																	135202917		2203	4300	6503	SO:0001819	synonymous_variant	23064	exon10			TGATTTGGGTCTG	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.4068C>A	9.37:g.135202917G>T		53	0		39	2	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																			.		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		T	135202917	G	T	135202917	2	4	6	1	0	0	0	0	0	0	0	1	14186	1335	47	3		3	SETX	9	135202917	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	11652631	135202917	6010514	147	808											
SEC16A	9919	ucsc.edu;bcgsc.ca	37	9	139341749	139341749	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:139341749G>T	ENST00000371706.3	-	25	6126	c.6093C>A	c.(6091-6093)ctC>ctA	p.L2031L	SEC16A_ENST00000290037.6_Silent_p.L2031L|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000431893.2_Silent_p.L2031L|SEC16A_ENST00000313084.5_Silent_p.L215L|SEC16A_ENST00000313050.7_Silent_p.L2209L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2031	Pro-rich.|Required for interaction with SEC23A.				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)		CCGCAGGAGCGAGAGCCGGCT	0.612																																					p.L2209L													.	SEC16A	249	0			c.C6627A						.						16	23	21					9																	139341749		2002	4152	6154	SO:0001819	synonymous_variant	9919	exon27			AGGAGCGAGAGCC	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.6093C>A	9.37:g.139341749G>T		31	0		20	4	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	5.436	0.265606	0.10294	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.26	-10.5	0.00291	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.17684	-1.0361	4	.	.	.	-3.5671	7.6843	0.28532	0.304:0.4236:0.2724:0.0	.	.	.	.	S	339	.	.	R	-	1	0	SEC16A	138461570	0.005000	0.15991	0.000000	0.03702	0.010000	0.07245	-0.939000	0.03933	-2.011000	0.00952	-0.611000	0.04053	CGC	.		0.612	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		T	139341749	G	T	139341749	2	4	6	1	0	0	0	0	0	0	0	1	14031	1045	37	2		2	SEC16A	9	139341749	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	4138832	139341749	1871682	148	809											
MAMDC4	8721	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	139754378	139754378	+	IGR	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr9:139754378C>A	ENST00000224073.1	-	0	640				MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.G1078G|MAMDC4_ENST00000445819.1_Silent_p.G1157G	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGTGGTTGGCAGTGCCCTCC	0.637																																					p.G1078G		.											.	.	.	0			c.C3234A						.						65	64	64					9																	139754378		2199	4300	6499	SO:0001628	intergenic_variant	158056	exon26			GGTTGGCAGTGCC	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139754378C>A		40	0		32	9	NM_206920	Q5T5T2|Q9UIM1	Silent	SNP	ENST00000224073.1	37	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	.	6.044	0.376501	0.11466	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.77	-9.53	0.00575	.	.	.	.	.	T	0.13500	0.0327	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.16394	-1.0404	4	.	.	.	-10.9375	0.7988	0.01071	0.1878:0.1984:0.2681:0.3457	.	.	.	.	K	1143	.	.	Q	+	1	0	MAMDC4	138874199	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-2.219000	0.01218	-1.861000	0.01153	-0.258000	0.10820	CAG	.		0.637	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			A	139754378	C	A	139754378	1	1	6	0	1	0	0	0	0	0	0	0	9242	697	25	3		3	MAMDC4	9	139754378	IGR	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	412629	139754378	1459053	149	810											
MAP3K8	1326	hgsc.bcm.edu	37	10	30747044	30747044	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:30747044G>T	ENST00000263056.1	+	7	1601	c.905G>T	c.(904-906)aGg>aTg	p.R302M	MAP3K8_ENST00000542547.1_Missense_Mutation_p.R302M|MAP3K8_ENST00000375321.1_Missense_Mutation_p.R302M	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATCCTGTGCAGGGGCCATTCA	0.547																																					p.R302M		.											MAP3K8,NS,carcinoma,0,1	MAP3K8	0	0			c.G905T						.						90	91	91					10																	30747044		2203	4300	6503	SO:0001583	missense	1326	exon6			TGTGCAGGGGCCA	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.905G>T	10.37:g.30747044G>T	ENSP00000263056:p.Arg302Met	44	0		45	3	NM_001244134	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749977	0.89753	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.67171	-0.25;-0.25;-0.25	5.05	5.05	0.67936	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	0.75917	0.3915	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76520	-0.2929	10	0.49607	T	0.09	.	18.8345	0.92155	0.0:0.0:1.0:0.0	.	302	P41279	M3K8_HUMAN	M	302	ENSP00000263056:R302M;ENSP00000443610:R302M;ENSP00000364470:R302M	ENSP00000263056:R302M	R	+	2	0	MAP3K8	30787050	1.000000	0.71417	0.966000	0.40874	0.925000	0.55904	9.203000	0.95033	2.537000	0.85549	0.644000	0.83932	AGG	.		0.547	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		T	30747044	G	T	30747044	3	4	6	1	0	0	0	0	1	0	0	0	9294	1000	35	3	923	3	MAP3K8	10	30747044	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		30747044	104787703	150	811											
CUL2	8453	hgsc.bcm.edu	37	10	35327979	35327979	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:35327979C>T	ENST00000374748.1	-	10	1059	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	CUL2_ENST00000537177.1_Missense_Mutation_p.R268Q|CUL2_ENST00000374746.1_Missense_Mutation_p.R249Q|CUL2_ENST00000374742.1_Missense_Mutation_p.R249Q|CUL2_ENST00000374751.3_Missense_Mutation_p.R249Q|CUL2_ENST00000602371.1_Missense_Mutation_p.R192Q|CUL2_ENST00000374749.3_Missense_Mutation_p.R249Q			Q13617	CUL2_HUMAN	cullin 2	249					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)	p.R249Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTTCGACATCGAATTTCTTC	0.318																																					p.R268Q		.											CUL2,rectum,carcinoma,0,1	CUL2	0	1	Substitution - Missense(1)	large_intestine(1)	c.G803A						.						116	106	109					10																	35327979		2203	4296	6499	SO:0001583	missense	8453	exon9			CGACATCGAATTT	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.746G>A	10.37:g.35327979C>T	ENSP00000363880:p.Arg249Gln	72	0		75	3	NM_001198778	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	36	5.889487	0.97068	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.89095	3.005	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	0.75900	-0.3154	10	0.87932	D	0	-8.0139	20.8598	0.99761	0.0:1.0:0.0:0.0	.	249;268;249	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	Q	249;249;249;249;192;249;268	ENSP00000363883:R249Q;ENSP00000363880:R249Q;ENSP00000363878:R249Q;ENSP00000363881:R249Q;ENSP00000363874:R249Q;ENSP00000444856:R268Q	ENSP00000363874:R249Q	R	-	2	0	CUL2	35367985	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGA	.		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		T	35327979	C	T	35327979	3	4	6	1	0	0	0	0	1	0	0	0	4064	884	31	1	1543	1	CUL2	10	35327979	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4580935	35327979	100206768	151	812											
C10orf71	118461	hgsc.bcm.edu	37	10	50530860	50530860	+	Silent	SNP	G	G	T	rs374572081		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:50530860G>T	ENST00000374144.3	+	3	558	c.270G>T	c.(268-270)acG>acT	p.T90T	C10orf71_ENST00000323868.4_Silent_p.T90T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	90										endometrium(1)	1						CACAGGGCACGGAACATTCGG	0.572																																					p.T90T		.											C10orf71_ENST00000374144,NS,carcinoma,0,2	C10orf71_ENST00000374144	0	0			c.G270T						.						90	98	96					10																	50530860		1970	4146	6116	SO:0001819	synonymous_variant	118461	exon3			GGGCACGGAACAT	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.270G>T	10.37:g.50530860G>T		48	0		30	2	NM_001135196	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																			.		0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50530860	G	T	50530860	2	4	6	1	0	0	0	0	0	0	0	1	1619	1103	39	2		2	C10orf71	10	50530860	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	15202881	50530860	85003887	152	813											
HKDC1	80201	hgsc.bcm.edu	37	10	70992818	70992818	+	Missense_Mutation	SNP	G	G	T	rs555319606		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:70992818G>T	ENST00000354624.5	+	4	557	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.D142Y	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	142	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						GAAGACCAAAGATTTAAAGCA	0.468													G|||	1	0.000199681	0	0	5008	,	,		21183	0.001		0	False		,,,				2504	0				p.D142Y		.											HKDC1,NS,carcinoma,0,1	HKDC1	0	0			c.G424T						.						104	98	100					10																	70992818		2203	4300	6503	SO:0001583	missense	80201	exon4			ACCAAAGATTTAA		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.424G>T	10.37:g.70992818G>T	ENSP00000346643:p.Asp142Tyr	26	0		33	3	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	9.957	1.221795	0.22457	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99089	-5.41;-5.41	4.3	2.42	0.29668	Hexokinase, N-terminal (1);	0.750686	0.12984	N	0.423042	D	0.96534	0.8869	L	0.41415	1.275	0.09310	N	1	B	0.19073	0.033	B	0.17433	0.018	D	0.93351	0.6718	10	0.66056	D	0.02	-0.602	4.9403	0.13961	0.2813:0.1575:0.5612:0.0	.	142	Q2TB90	HKDC1_HUMAN	Y	142	ENSP00000346643:D142Y;ENSP00000378521:D142Y	ENSP00000346643:D142Y	D	+	1	0	HKDC1	70662824	0.360000	0.24964	0.499000	0.27577	0.916000	0.54674	1.069000	0.30641	0.550000	0.28991	0.561000	0.74099	GAT	.		0.468	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		T	70992818	G	T	70992818	3	4	6	1	0	0	0	0	1	0	0	0	7220	942	33	3	438	3	HKDC1	10	70992818	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	20461958	70992818	64541929	153	814											
UNC5B	219699	ucsc.edu;bcgsc.ca	37	10	73050759	73050759	+	Missense_Mutation	SNP	T	T	G	rs117156661		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:73050759T>G	ENST00000335350.6	+	9	1603	c.1187T>G	c.(1186-1188)gTg>gGg	p.V396G	UNC5B_ENST00000373192.4_Missense_Mutation_p.V385G	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	396					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						GCGGTGGGGGTGGTGGTGTAC	0.627																																					p.V396G													.	UNC5B	123	0			c.T1187G						.						176	172	173					10																	73050759		2203	4300	6503	SO:0001583	missense	219699	exon9			TGGGGGTGGTGGT	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.1187T>G	10.37:g.73050759T>G	ENSP00000334329:p.Val396Gly	41	1		39	12	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510623	0.85389	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.55760	0.6;0.5	5.26	5.26	0.73747	.	0.062472	0.64402	D	0.000004	T	0.69557	0.3124	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.66351	0.943;0.878	T	0.71364	-0.4615	10	0.46703	T	0.11	-20.6219	15.1633	0.72801	0.0:0.0:0.0:1.0	.	385;396	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	G	396;385	ENSP00000334329:V396G;ENSP00000362288:V385G	ENSP00000334329:V396G	V	+	2	0	UNC5B	72720765	1.000000	0.71417	0.929000	0.37066	0.557000	0.35523	4.283000	0.58977	1.996000	0.58369	0.460000	0.39030	GTG	T|0.999;G|0.001		0.627	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		G	73050759	T	G	73050759	3	3	6	1	0	0	0	0	1	0	0	0	17041	1696	59	4	1221	4	UNC5B	10	73050759	Missense_Mutation	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	2057941	73050759	62483988	154	815											
CAMK2G	818	hgsc.bcm.edu	37	10	75574960	75574960	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:75574960G>T	ENST00000351293.3	-	18	1358	c.1301C>A	c.(1300-1302)cCa>cAa	p.P434Q	CAMK2G_ENST00000423381.1_Missense_Mutation_p.P527Q|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P455Q|RP11-574K11.5_ENST00000434147.1_RNA|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P472Q|CAMK2G_ENST00000322680.3_Missense_Mutation_p.P495Q|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P468Q|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P466Q|CAMK2G_ENST00000472912.1_5'UTR	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	497					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)	GTGGACGTGTGGGTTTAGGAT	0.597																																					p.P495Q		.											.	.	.	0			c.C1484A						.						152	123	133					10																	75574960		2203	4300	6503	SO:0001583	missense	818	exon20			ACGTGTGGGTTTA	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.1301C>A	10.37:g.75574960G>T	ENSP00000277853:p.Pro434Gln	30	0		46	3	NM_172171	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884627	0.91814	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.51	4.61	0.57282	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.92412	3.305	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82131	-0.0609	10	0.87932	D	0	.	14.3252	0.66515	0.0711:0.0:0.9289:0.0	.	468;527;434;457;497;466;495	Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;KCC2G_HUMAN;.;.	Q	434;466;527;497;495;472;392;468;455	ENSP00000277853:P434Q;ENSP00000315599:P466Q;ENSP00000410298:P527Q;ENSP00000319060:P495Q;ENSP00000378243:P472Q;ENSP00000393784:P392Q;ENSP00000307082:P468Q;ENSP00000361851:P455Q	ENSP00000307082:P468Q	P	-	2	0	CAMK2G	75244966	1.000000	0.71417	0.942000	0.38095	0.998000	0.95712	9.476000	0.97823	1.321000	0.45227	0.655000	0.94253	CCA	.		0.597	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		T	75574960	G	T	75574960	3	4	6	1	0	0	0	0	1	0	0	0	2609	1348	47	3	190	3	CAMK2G	10	75574960	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2524201	75574960	59959787	155	816											
VCL	7414	hgsc.bcm.edu	37	10	75860838	75860838	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:75860838C>A	ENST00000211998.4	+	14	2099	c.2005C>A	c.(2005-2007)Cga>Aga	p.R669R	VCL_ENST00000372755.3_Silent_p.R669R|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	669	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R669G(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GAAGACGGCCCGAGAACTCAC	0.458																																					p.R669R		.											VCL,NS,carcinoma,0,1	VCL	0	1	Substitution - Missense(1)	kidney(1)	c.C2005A						.						51	48	49					10																	75860838		2203	4300	6503	SO:0001819	synonymous_variant	7414	exon14			ACGGCCCGAGAAC	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2005C>A	10.37:g.75860838C>A		45	0		49	2	NM_003373	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	CCDS7341.1																																																																																			.		0.458	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		A	75860838	C	A	75860838	2	1	6	1	0	0	0	0	0	0	0	1	17188	644	23	2		2	VCL	10	75860838	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	285878	75860838	59673909	156	817											
SORBS1	10580	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	97197306	97197306	+	Missense_Mutation	SNP	T	T	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:97197306T>A	ENST00000361941.3	-	2	43	c.17A>T	c.(16-18)gAt>gTt	p.D6V	SORBS1_ENST00000371227.4_Missense_Mutation_p.D6V|SORBS1_ENST00000371249.2_Missense_Mutation_p.D6V|SORBS1_ENST00000371239.1_Missense_Mutation_p.D6V|SORBS1_ENST00000277982.5_Missense_Mutation_p.D6V|SORBS1_ENST00000371245.3_Missense_Mutation_p.D6V|SORBS1_ENST00000353505.5_Missense_Mutation_p.D6V|SORBS1_ENST00000354106.3_Missense_Mutation_p.D6V|SORBS1_ENST00000306402.6_Missense_Mutation_p.D6V|SORBS1_ENST00000371241.1_Missense_Mutation_p.D6V|SORBS1_ENST00000607232.1_Missense_Mutation_p.D6V|SORBS1_ENST00000347291.4_Missense_Mutation_p.D6V|SORBS1_ENST00000393949.1_Missense_Mutation_p.D6V|SORBS1_ENST00000371246.2_Missense_Mutation_p.D6V|SORBS1_ENST00000371247.2_Missense_Mutation_p.D6V|SORBS1_ENST00000474353.2_5'UTR	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)		GGAACCACCATCACATTCTGC	0.507																																					p.D6V		.											.	.	.	0			c.A17T						.						143	122	129					10																	97197306		2203	4300	6503	SO:0001583	missense	10580	exon2			CCACCATCACATT	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.17A>T	10.37:g.97197306T>A	ENSP00000355136:p.Asp6Val	40	0		32	4	NM_001034955		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503905	0.44558	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16324	3.15;2.57;2.35;2.86;2.77;3.16;2.67;3.15;2.53;2.86;3.16;2.36;2.67;2.41	5.1	5.1	0.69264	.	0.000000	0.37348	N	0.002128	T	0.27349	0.0671	L	0.27053	0.805	0.42039	D	0.991067	P;B;D;P;D;D;B;D;D;P;P	0.69078	0.87;0.442;0.997;0.835;0.976;0.957;0.142;0.957;0.993;0.745;0.941	B;B;D;P;P;P;B;P;D;P;P	0.69479	0.124;0.137;0.964;0.65;0.742;0.843;0.313;0.791;0.917;0.448;0.856	T	0.04053	-1.0981	10	0.87932	D	0	-12.606	12.5672	0.56316	0.0:0.0:0.0:1.0	.	6;6;6;6;6;6;6;6;6;6;6	B7Z9B7;B4DTX5;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;.;.;.;.;SRBS1_HUMAN;.	V	6	ENSP00000360291:D6V;ENSP00000302556:D6V;ENSP00000360295:D6V;ENSP00000360293:D6V;ENSP00000360271:D6V;ENSP00000360292:D6V;ENSP00000377521:D6V;ENSP00000343998:D6V;ENSP00000277985:D6V;ENSP00000355136:D6V;ENSP00000277982:D6V;ENSP00000360285:D6V;ENSP00000277984:D6V;ENSP00000360283:D6V	ENSP00000277982:D6V	D	-	2	0	SORBS1	97187296	0.999000	0.42202	0.961000	0.40146	0.271000	0.26615	4.662000	0.61525	2.050000	0.60909	0.455000	0.32223	GAT	.		0.507	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			A	97197306	T	A	97197306	3	1	6	1	0	0	0	0	1	0	0	0	14972	1435	50	5	4178	5	SORBS1	10	97197306	Missense_Mutation	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	21336468	97197306	38337441	157	818											
GOT1	2805	hgsc.bcm.edu	37	10	101163490	101163490	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:101163490C>A	ENST00000370508.5	-	6	811	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W	GOT1_ENST00000543866.1_Missense_Mutation_p.G241W	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	262					2-oxoglutarate metabolic process (GO:0006103)|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)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|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)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.G262W(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CTGTAGAGCCCGAAGTTCTTG	0.537																																					p.G262W	Melanoma(173;770 3544 21601)	.											GOT1,NS,carcinoma,0,1	GOT1	0	2	Substitution - Missense(2)	prostate(1)|lung(1)	c.G784T						.						81	78	79					10																	101163490		2203	4300	6503	SO:0001583	missense	2805	exon6			AGAGCCCGAAGTT	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.784G>T	10.37:g.101163490C>A	ENSP00000359539:p.Gly262Trp	45	0		34	2	NM_002079	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710865	0.89112	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.95756	-3.8;-3.8	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096735	0.64402	D	0.000001	D	0.98720	0.9570	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99497	1.0952	10	0.87932	D	0	-10.0104	19.3592	0.94428	0.0:1.0:0.0:0.0	.	262	P17174	AATC_HUMAN	W	262;215;241	ENSP00000359539:G262W;ENSP00000445578:G241W	ENSP00000359539:G262W	G	-	1	0	GOT1	101153480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.647000	0.89833	0.558000	0.71614	GGG	.		0.537	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		A	101163490	C	A	101163490	3	1	6	1	0	0	0	0	1	0	0	0	6605	652	23	2	473	2	GOT1	10	101163490	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	3966184	101163490	34371257	158	819											
COX15	1355	ucsc.edu;bcgsc.ca	37	10	101489417	101489417	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:101489417C>A	ENST00000016171.5	-	2	215	c.165G>T	c.(163-165)agG>agT	p.R55S	CUTC_ENST00000370476.5_5'Flank|COX15_ENST00000370483.5_Missense_Mutation_p.R55S|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	55					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		ACACTGTACCCCTTCCAGATT	0.527																																					p.R55S													.	COX15	25	0			c.G165T						.						118	115	116					10																	101489417		2203	4300	6503	SO:0001583	missense	1355	exon2			TGTACCCCTTCCA	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.165G>T	10.37:g.101489417C>A	ENSP00000016171:p.Arg55Ser	32	0		26	4	NM_078470	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005890	0.19199	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	.	.	.	4.97	1.95	0.26073	Peptidase cysteine/serine, trypsin-like (1);	0.772227	0.12734	N	0.443638	T	0.23249	0.0562	N	0.24115	0.695	0.29823	N	0.830666	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31779	-0.9931	9	0.09084	T	0.74	-5.2347	6.733	0.23393	0.4466:0.4691:0.0:0.0843	.	55;55	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	S	55	.	ENSP00000016171:R55S	R	-	3	2	COX15	101479407	0.425000	0.25498	0.981000	0.43875	0.908000	0.53690	0.643000	0.24750	0.230000	0.21059	0.555000	0.69702	AGG	.		0.527	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		A	101489417	C	A	101489417	3	1	6	1	0	0	0	0	1	0	0	0	3771	622	22	3	1169	3	COX15	10	101489417	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	325927	101489417	34045330	159	820											
BTRC	8945	hgsc.bcm.edu	37	10	103294590	103294590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:103294590G>T	ENST00000370187.3	+	10	1388	c.1270G>T	c.(1270-1272)Gga>Tga	p.G424*	BTRC_ENST00000408038.2_Nonsense_Mutation_p.G388*|BTRC_ENST00000393441.4_Nonsense_Mutation_p.G383*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	424					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|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)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GGTGCTGGTCGGACACCGAGC	0.453																																					p.G424X		.											.	.	.	0			c.G1270T						.						223	205	211					10																	103294590		2203	4300	6503	SO:0001587	stop_gained	8945	exon10			CTGGTCGGACACC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1270G>T	10.37:g.103294590G>T	ENSP00000359206:p.Gly424*	54	0		58	4	NM_033637	B5MD49|Q5W141|Q5W142|Q9Y213	Nonsense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	39	7.566404	0.98361	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.6759	19.8154	0.96566	0.0:0.0:1.0:0.0	.	.	.	.	X	424;383;388	.	ENSP00000359206:G424X	G	+	1	0	BTRC	103284580	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	GGA	.		0.453	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		T	103294590	G	T	103294590	4	4	6	1	0	0	0	0	0	1	0	0	1573	1117	39	2	1308	2	BTRC	10	103294590	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1805173	103294590	32240157	160	821											
GBF1	8729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	104117876	104117876	+	Missense_Mutation	SNP	G	G	A	rs369887575		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:104117876G>A	ENST00000369983.3	+	9	980	c.720G>A	c.(718-720)atG>atA	p.M240I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	240					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACGCCATATGACCAAAGTCA	0.502																																					p.M240I		.											.	.	.	0			c.G720A						.	G	ILE/MET,ILE/MET,ILE/MET	0,4406		0,0,2203	194	192	193		720,720,720	2.9	1	10		193	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	10,10,10	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	240/1857,240/1856,240/1860	104117876	1,13005	2203	4300	6503	SO:0001583	missense	8729	exon9			CCATATGACCAAA	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.720G>A	10.37:g.104117876G>A	ENSP00000359000:p.Met240Ile	38	0		36	5	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651735	0.29336	0.0	1.16E-4	ENSG00000107862	ENST00000369983	T	0.09255	3.0	5.92	2.93	0.34026	.	0.373318	0.35151	N	0.003406	T	0.05181	0.0138	N	0.19112	0.55	0.26792	N	0.96939	B;B;B;B	0.09022	0.0;0.0;0.002;0.001	B;B;B;B	0.11329	0.0;0.0;0.004;0.006	T	0.30621	-0.9972	10	0.29301	T	0.29	-1.1472	0.3824	0.00397	0.2185:0.2066:0.2977:0.2772	.	240;240;240;240	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	I	240	ENSP00000359000:M240I	ENSP00000359000:M240I	M	+	3	0	GBF1	104107866	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.762000	0.38451	0.807000	0.34208	0.555000	0.69702	ATG	.		0.502	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			A	104117876	G	A	104117876	3	1	6	1	0	0	0	0	1	0	0	0	6296	1290	45	3	750	3	GBF1	10	104117876	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	823286	104117876	31416871	161	822											
COL17A1	1308	hgsc.bcm.edu	37	10	105819419	105819419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:105819419G>T	ENST00000353479.5	-	15	1489	c.1199C>A	c.(1198-1200)tCa>tAa	p.S400*	COL17A1_ENST00000393211.3_Nonsense_Mutation_p.S400*|COL17A1_ENST00000369733.3_Nonsense_Mutation_p.S400*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	400	Nonhelical region (NC16).				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)		TTTTAGGCCTGAGTCAGCATT	0.413																																					p.S400X		.											.	.	.	0			c.C1199A						.						212	187	196					10																	105819419		2203	4300	6503	SO:0001587	stop_gained	1308	exon15			AGGCCTGAGTCAG	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.1199C>A	10.37:g.105819419G>T	ENSP00000340937:p.Ser400*	75	0		54	4	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698916	0.96802	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	.	.	.	5.61	3.77	0.43336	.	0.478185	0.17159	N	0.184771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-0.7055	11.9038	0.52699	0.1424:0.0:0.8576:0.0	.	.	.	.	X	400;400;384;400	.	ENSP00000340937:S400X	S	-	2	0	COL17A1	105809409	1.000000	0.71417	0.024000	0.17045	0.276000	0.26787	6.557000	0.73937	0.745000	0.32763	-0.140000	0.14226	TCA	.		0.413	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		T	105819419	G	T	105819419	4	4	6	1	0	0	0	0	0	1	0	0	3681	1294	45	3	3462	3	COL17A1	10	105819419	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1701543	105819419	29715328	162	823											
HSPA12A	259217	hgsc.bcm.edu	37	10	118460575	118460575	+	Missense_Mutation	SNP	G	G	T	rs372144587		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:118460575G>T	ENST00000369209.3	-	4	424	c.320C>A	c.(319-321)cCc>cAc	p.P107H		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	107						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)		CTTCCTCTCGGGAGTCAGCAA	0.562																																					p.P107H		.											HSPA12A,colon,carcinoma,0,1	HSPA12A	0	0			c.C320A						.	G	HIS/PRO	0,4250		0,0,2125	79	85	83		320	4.7	0.1	10		83	1,8483		0,1,4241	no	missense	HSPA12A	NM_025015.2	77	0,1,6366	TT,TG,GG		0.0118,0.0,0.0079	probably-damaging	107/676	118460575	1,12733	2125	4242	6367	SO:0001583	missense	259217	exon4			CTCTCGGGAGTCA	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.320C>A	10.37:g.118460575G>T	ENSP00000358211:p.Pro107His	37	0		35	2	NM_025015		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424962	0.83667	0.0	1.18E-4	ENSG00000165868	ENST00000369209	T	0.49720	0.77	5.62	4.72	0.59763	.	0.048194	0.85682	D	0.000000	T	0.69477	0.3115	M	0.83603	2.65	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.75051	-0.3454	10	0.72032	D	0.01	.	14.0819	0.64929	0.0719:0.0:0.9281:0.0	.	107	O43301	HS12A_HUMAN	H	107	ENSP00000358211:P107H	ENSP00000358211:P107H	P	-	2	0	HSPA12A	118450565	1.000000	0.71417	0.075000	0.20258	0.976000	0.68499	9.749000	0.98871	1.379000	0.46325	0.655000	0.94253	CCC	.		0.562	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		T	118460575	G	T	118460575	3	4	6	1	0	0	0	0	1	0	0	0	7431	1232	43	3	1743	3	HSPA12A	10	118460575	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	12641156	118460575	17074172	163	824											
C10orf46	143384	bcgsc.ca	37	10	120450823	120450823	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:120450823G>T	ENST00000369151.3	-	7	1462	c.979C>A	c.(979-981)Caa>Aaa	p.Q327K	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	327					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)										TTCTGATCTTGAGCAGCATAT	0.393																																					p.Q327K													.	.	.	0			c.C979A						.						143	147	146					10																	120450823		1813	4078	5891	SO:0001583	missense	143384	exon7			GATCTTGAGCAGC	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.979C>A	10.37:g.120450823G>T	ENSP00000358147:p.Gln327Lys	126	0		136	5	NM_153810	Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	ENST00000369151.3	37	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890658	0.72524	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151	T	0.75477	-0.94	5.97	5.06	0.68205	.	0.112936	0.64402	D	0.000007	T	0.63698	0.2533	L	0.32530	0.975	0.80722	D	1	P	0.35844	0.524	B	0.24974	0.057	T	0.67055	-0.5767	10	0.72032	D	0.01	-5.1767	17.1882	0.86872	0.0:0.1263:0.8737:0.0	.	327	Q86Y37	CJ046_HUMAN	K	138;204;327	ENSP00000358147:Q327K	ENSP00000358147:Q327K	Q	-	1	0	C10orf46	120440813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	1.508000	0.48769	0.585000	0.79938	CAA	.		0.393	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		T	120450823	G	T	120450823	3	4	6	1	0	0	0	0	1	0	0	0	1609	1299	45	3	142	3	C10orf46	10	120450823	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1990248	120450823	15083924	164	825											
EIF3A	8661	hgsc.bcm.edu;bcgsc.ca	37	10	120820340	120820340	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:120820340C>A	ENST00000369144.3	-	9	1371	c.1244G>T	c.(1243-1245)aGg>aTg	p.R415M	SNORA19_ENST00000410656.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.R381M|SNORA19_ENST00000384737.1_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)			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)		AGGTTGTTCCCTAACCCAATT	0.333																																					p.R415M		.											.	.	.	0			c.G1244T						.						146	146	146					10																	120820340		2203	4300	6503	SO:0001583	missense	8661	exon9			TGTTCCCTAACCC	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.1244G>T	10.37:g.120820340C>A	ENSP00000358140:p.Arg415Met	56	0		74	4	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777392	0.49786	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.33654	1.4;1.4	5.92	4.08	0.47627	Proteasome component (PCI) domain (1);	0.169796	0.26959	U	0.021628	T	0.33702	0.0872	N	0.22421	0.69	0.44409	D	0.997323	P	0.43938	0.822	P	0.51487	0.671	T	0.06110	-1.0845	10	0.44086	T	0.13	-7.945	8.8039	0.34925	0.0:0.7006:0.0:0.2994	.	415	Q14152	EIF3A_HUMAN	M	415;381	ENSP00000358140:R415M;ENSP00000438178:R381M	ENSP00000358140:R415M	R	-	2	0	EIF3A	120810330	0.997000	0.39634	0.978000	0.43139	0.975000	0.68041	1.942000	0.40243	0.854000	0.35336	0.467000	0.42956	AGG	.		0.333	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		A	120820340	C	A	120820340	3	1	6	1	0	0	0	0	1	0	0	0	5026	681	24	3	2960	3	EIF3A	10	120820340	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	369517	120820340	14714407	165	826											
FAM45A	404636	hgsc.bcm.edu	37	10	120867507	120867507	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:120867507G>T	ENST00000361432.2	+	2	109	c.83G>T	c.(82-84)tGg>tTg	p.W28L	FAM45A_ENST00000544016.1_5'UTR|FAM45A_ENST00000535029.1_Missense_Mutation_p.W28L	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	28										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)		GAAGTTCTGTGGGTGTGGTGT	0.433																																					p.W28L		.											.	.	.	0			c.G83T						.						146	139	141					10																	120867507		2203	4300	6503	SO:0001583	missense	404636	exon2			TTCTGTGGGTGTG	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.83G>T	10.37:g.120867507G>T	ENSP00000354688:p.Trp28Leu	89	0		89	5	NM_207009	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178369	0.78564	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	L	0.46614	1.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68554	-0.5378	9	0.37606	T	0.19	.	15.5412	0.76048	0.0:0.1372:0.8628:0.0	.	20;28	Q8TCE6-2;Q8TCE6	.;FA45A_HUMAN	L	28	.	ENSP00000354688:W28L	W	+	2	0	FAM45A	120857497	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.059000	0.93902	1.485000	0.48380	0.558000	0.71614	TGG	.		0.433	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		T	120867507	G	T	120867507	3	4	6	1	0	0	0	0	1	0	0	0	5586	1357	47	3	89	3	FAM45A	10	120867507	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	47167	120867507	14667240	166	827											
C10orf137	26098	hgsc.bcm.edu	37	10	127429150	127429150	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr10:127429150C>A	ENST00000356792.4	+	16	2332	c.2100C>A	c.(2098-2100)tcC>tcA	p.S700S	C10orf137_ENST00000337623.3_Silent_p.S666S	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		700					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)				ATGTTTTGTCCGATGCTGCCA	0.373																																					p.S700S		.											C10orf137,caecum,carcinoma,0,1	C10orf137	0	0			c.C2100A						.						131	121	124					10																	127429150		2203	4300	6503	SO:0001819	synonymous_variant	26098	exon16			TTTGTCCGATGCT																												ENST00000356792.4:c.2100C>A	10.37:g.127429150C>A		84	0		44	2	NM_001202438	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	CCDS55733.1																																																																																			.		0.373	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			A	127429150	C	A	127429150	2	1	6	1	0	0	0	0	0	0	0	1	1599	639	23	2		2	C10orf137	10	127429150	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	6561643	127429150	8105597	167	828											
HTATIP2	10553	hgsc.bcm.edu	37	11	20385802	20385802	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:20385802C>A	ENST00000451739.2	+	1	460	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	HTATIP2_ENST00000532081.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000421577.2_Missense_Mutation_p.L7M|HTATIP2_ENST00000530266.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000419348.2_Missense_Mutation_p.L41M|HTATIP2_ENST00000532505.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000443524.2_Missense_Mutation_p.L7M|HTATIP2_ENST00000531058.1_Missense_Mutation_p.L7M	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AACAGAAGCCCTGTCGAAGCT	0.522																																					p.L41M		.											HTATIP2_ENST00000419348,NS,carcinoma,0,2	HTATIP2_ENST00000419348	0	0			c.C121A						.						92	97	95					11																	20385802		2203	4300	6503	SO:0001583	missense	10553	exon2			GAAGCCCTGTCGA	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.19C>A	11.37:g.20385802C>A	ENSP00000394259:p.Leu7Met	51	0		44	2	NM_001098520		Missense_Mutation	SNP	ENST00000451739.2	37	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641950	0.47153	.	.	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T	0.57107	0.71;0.71;0.42;0.71;0.7	6.02	4.05	0.47172	.	0.259478	0.42548	D	0.000684	T	0.34077	0.0885	N	0.22421	0.69	0.39078	D	0.960849	B;P;B	0.34462	0.032;0.454;0.024	B;B;B	0.30572	0.003;0.117;0.01	T	0.28202	-1.0051	10	0.39692	T	0.17	-17.6249	8.8082	0.34952	0.1502:0.7712:0.0:0.0787	.	7;7;41	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	M	7;7;7;41;7;7;7;7	ENSP00000397752:L7M;ENSP00000387876:L7M;ENSP00000392985:L41M;ENSP00000394259:L7M;ENSP00000436729:L7M	ENSP00000392985:L41M	L	+	1	2	HTATIP2	20342378	0.728000	0.28080	0.355000	0.25773	0.465000	0.32709	1.259000	0.32956	1.551000	0.49450	0.655000	0.94253	CTG	.		0.522	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		A	20385802	C	A	20385802	3	1	6	1	0	0	0	0	1	0	0	0	7459	680	24	3	127	3	HTATIP2	11	20385802	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		20385802	114620714	168	829											
PAX6	5080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	31823198	31823198	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:31823198A>G	ENST00000379132.3	-	5	548	c.268T>C	c.(268-270)Tat>Cat	p.Y90H	PAX6_ENST00000379111.2_Missense_Mutation_p.Y90H|PAX6_ENST00000379123.5_Missense_Mutation_p.Y90H|PAX6_ENST00000379115.4_Missense_Mutation_p.Y104H|PAX6_ENST00000241001.8_Missense_Mutation_p.Y90H|PAX6_ENST00000379107.2_Missense_Mutation_p.Y104H|PAX6_ENST00000419022.1_Missense_Mutation_p.Y104H|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000379129.2_Missense_Mutation_p.Y104H			P26367	PAX6_HUMAN	paired box 6	90	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCCCGCTTATACTGGGCTATT	0.502									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.Y104H		.											.	.	.	0			c.T310C						.						97	94	95					11																	31823198		2202	4299	6501	SO:0001583	missense	5080	exon7	Familial Cancer Database	WAGR syndrome	GCTTATACTGGGC	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.268T>C	11.37:g.31823198A>G	ENSP00000368427:p.Tyr90His	40	0		58	14	NM_001604	Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377396	0.82682	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	5.35	5.35	0.76521	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	M	0.91459	3.21	0.80722	D	1	D;D	0.64830	0.981;0.994	D;D	0.68943	0.917;0.961	D	0.97910	1.0308	10	0.87932	D	0	.	15.3268	0.74172	1.0:0.0:0.0:0.0	.	104;90	F1T0F8;P26367	.;PAX6_HUMAN	H	104;90;104;104;90;104;90;90;90;45	ENSP00000404100:Y104H;ENSP00000368427:Y90H;ENSP00000368424:Y104H;ENSP00000368401:Y104H;ENSP00000241001:Y90H;ENSP00000368410:Y104H;ENSP00000368406:Y90H;ENSP00000368418:Y90H;ENSP00000368403:Y90H;ENSP00000451372:Y45H	ENSP00000241001:Y90H	Y	-	1	0	PAX6	31779774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.297000	0.96120	2.013000	0.59113	0.528000	0.53228	TAT	.		0.502	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		G	31823198	A	G	31823198	3	3	6	1	0	0	0	0	1	0	0	0	11522	391	14	4	1032	4	PAX6	11	31823198	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	11437396	31823198	103183318	169	830											
CAPRIN1	4076	bcgsc.ca	37	11	34074142	34074142	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:34074142G>T	ENST00000341394.4	+	2	364	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.G59W|CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.G59W|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.G59W	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	59					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCAGATTCTCGGGGTGATCGA	0.697																																					p.G59W													.	CAPRIN1	110	0			c.G175T						.						17	17	17					11																	34074142		2189	4281	6470	SO:0001583	missense	4076	exon2			ATTCTCGGGGTGA	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.175G>T	11.37:g.34074142G>T	ENSP00000340329:p.Gly59Trp	51	0		56	4	NM_203364	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262371	0.59431	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.21	3.29	0.37713	.	0.255473	0.36893	U	0.002345	T	0.36608	0.0973	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.936	T	0.03993	-1.0986	10	0.37606	T	0.19	-3.7741	10.2214	0.43198	0.0962:0.0:0.9038:0.0	.	59;59	Q14444;Q14444-2	CAPR1_HUMAN;.	W	59	ENSP00000340329:G59W;ENSP00000374296:G59W;ENSP00000431373:G59W;ENSP00000434150:G59W;ENSP00000434204:G59W	ENSP00000340329:G59W	G	+	1	0	CAPRIN1	34030718	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	5.405000	0.66351	0.896000	0.36366	-0.268000	0.10319	GGG	.		0.697	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		T	34074142	G	T	34074142	3	4	6	1	0	0	0	0	1	0	0	0	2642	1116	39	2	177	2	CAPRIN1	11	34074142	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2250944	34074142	100932374	170	831											
PTPRJ	5795	hgsc.bcm.edu;bcgsc.ca	37	11	48168501	48168501	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:48168501C>A	ENST00000418331.2	+	15	3337	c.2985C>A	c.(2983-2985)ttC>ttA	p.F995L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	995					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						GCTTCATCTTCTGGAGAAAGA	0.398																																					p.F995L		.											.	.	.	0			c.C2985A						.						270	252	258					11																	48168501		2201	4298	6499	SO:0001583	missense	5795	exon15			CATCTTCTGGAGA	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.2985C>A	11.37:g.48168501C>A	ENSP00000400010:p.Phe995Leu	67	0		77	4	NM_002843	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605677	0.46527	.	.	ENSG00000149177	ENST00000418331	T	0.12774	2.65	5.37	3.5	0.40072	.	.	.	.	.	T	0.14787	0.0357	M	0.70275	2.135	0.80722	D	1	B	0.21905	0.062	B	0.20767	0.031	T	0.04870	-1.0921	9	0.12103	T	0.63	.	10.0006	0.41927	0.0:0.8338:0.0:0.1662	.	995	Q12913	PTPRJ_HUMAN	L	995	ENSP00000400010:F995L	ENSP00000400010:F995L	F	+	3	2	PTPRJ	48125077	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	1.857000	0.39399	0.644000	0.30656	0.558000	0.71614	TTC	.		0.398	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48168501	C	A	48168501	3	1	6	1	0	0	0	0	1	0	0	0	12849	912	32	3	3052	3	PTPRJ	11	48168501	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	14094359	48168501	86838015	171	832											
OR5I1	10798	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	55703319	55703319	+	Silent	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:55703319C>T	ENST00000301532.3	-	1	557	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	186					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						ATAGTTTAAGCAGGGGAGGGA	0.403																																					p.L186L		.											.	.	.	0			c.G558A						.						57	63	61					11																	55703319		2199	4292	6491	SO:0001819	synonymous_variant	10798	exon1			TTTAAGCAGGGGA	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.558G>A	11.37:g.55703319C>T		66	0		55	7	NM_006637	Q6IEU4	Silent	SNP	ENST00000301532.3	37	CCDS7949.1																																																																																			.		0.403	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		T	55703319	C	T	55703319	2	4	6	1	0	0	0	0	0	0	0	1	11203	697	25	3		3	OR5I1	11	55703319	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	7534818	55703319	79303197	172	833											
MS4A7	58475	hgsc.bcm.edu;bcgsc.ca	37	11	60152623	60152623	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:60152623C>A	ENST00000300184.3	+	3	406	c.210C>A	c.(208-210)ccC>ccA	p.P70P	MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000530234.2_Silent_p.P70P|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	70						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						TTTTTGCTCCCTACCCCTCCC	0.483																																					p.P70P		.											.	.	.	0			c.C210A						.						207	205	205					11																	60152623		2203	4300	6503	SO:0001819	synonymous_variant	58475	exon3			TGCTCCCTACCCC	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.210C>A	11.37:g.60152623C>A		80	0		56	4	NM_021201	A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	CCDS7985.1																																																																																			.		0.483	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			A	60152623	C	A	60152623	2	1	6	1	0	0	0	0	0	0	0	1	9904	668	24	3		3	MS4A7	11	60152623	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4449304	60152623	74853893	173	834											
DAK	26007	ucsc.edu;bcgsc.ca	37	11	61109333	61109333	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:61109333G>T	ENST00000394900.3	+	7	833	c.604G>T	c.(604-606)Ggt>Tgt	p.G202C		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	202	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGCGTCCCTGGTTCCAAACC	0.597																																					p.G202C													.	DAK	52	0			c.G604T						.						150	137	141					11																	61109333		2203	4299	6502	SO:0001583	missense	26007	exon7			GTCCCTGGTTCCA		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.604G>T	11.37:g.61109333G>T	ENSP00000378360:p.Gly202Cys	35	0		33	4	NM_015533	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795011	0.90453	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.41065	1.01;1.01	5.84	5.84	0.93424	Dak kinase (2);	0.045607	0.85682	D	0.000000	T	0.68961	0.3058	M	0.82517	2.595	0.80722	D	1	D;D	0.58970	0.984;0.964	P;D	0.67103	0.874;0.949	T	0.71994	-0.4424	10	0.87932	D	0	-18.7155	19.7385	0.96217	0.0:0.0:1.0:0.0	.	202;202	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	C	202;201	ENSP00000378360:G202C;ENSP00000432539:G201C	ENSP00000378360:G202C	G	+	1	0	DAK	60865909	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	6.940000	0.75917	2.769000	0.95229	0.563000	0.77884	GGT	.		0.597	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		T	61109333	G	T	61109333	3	4	6	1	0	0	0	0	1	0	0	0	4237	1348	47	3	626	3	DAK	11	61109333	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	956710	61109333	73897183	174	835											
SCGB1D2	10647	hgsc.bcm.edu	37	11	62010926	62010926	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:62010926G>T	ENST00000244926.3	+	2	319	c.221G>T	c.(220-222)cGa>cTa	p.R74L	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	74						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						CTTCAGAAACGAAGCCTCATT	0.473																																					p.R74L		.											SCGB1D2,NS,malignant_melanoma,0,1	SCGB1D2	0	0			c.G221T						.						144	130	135					11																	62010926		2202	4299	6501	SO:0001583	missense	10647	exon2			AGAAACGAAGCCT	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.221G>T	11.37:g.62010926G>T	ENSP00000244926:p.Arg74Leu	57	0		38	2	NM_006551	Q2M3N9	Missense_Mutation	SNP	ENST00000244926.3	37	CCDS8017.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913321	0.33815	.	.	ENSG00000124935	ENST00000244926	T	0.37584	1.19	2.4	0.441	0.16577	.	0.449156	0.15680	N	0.249950	T	0.49592	0.1566	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.28870	-1.0030	9	0.54805	T	0.06	.	4.7486	0.13049	0.3105:0.0:0.6895:0.0	.	74	O95969	SG1D2_HUMAN	L	74	ENSP00000244926:R74L	ENSP00000244926:R74L	R	+	2	0	SCGB1D2	61767502	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.716000	0.01878	0.138000	0.18790	0.306000	0.20318	CGA	.		0.473	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394859.1	NM_006551		T	62010926	G	T	62010926	3	4	6	1	0	0	0	0	1	0	0	0	13942	1058	37	2	227	2	SCGB1D2	11	62010926	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	901593	62010926	72995590	175	836											
AHNAK	79026	hgsc.bcm.edu;bcgsc.ca	37	11	62287880	62287880	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:62287880G>T	ENST00000378024.4	-	5	14283	c.14009C>A	c.(14008-14010)cCa>cAa	p.P4670Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4670					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)				ATCCACATCTGGGCCCTCTCC	0.507																																					p.P4670Q		.											.	.	.	0			c.C14009A						.						240	247	245					11																	62287880		2202	4299	6501	SO:0001583	missense	79026	exon5			ACATCTGGGCCCT	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.14009C>A	11.37:g.62287880G>T	ENSP00000367263:p.Pro4670Gln	75	0		83	4	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363398	0.41902	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	H	0.97564	4.03	0.46901	D	0.999247	D	0.76494	0.999	D	0.79784	0.993	T	0.55927	-0.8063	10	0.62326	D	0.03	-2.1121	13.2611	0.60106	0.0:0.0:0.8412:0.1588	.	4670	Q09666	AHNK_HUMAN	Q	4670	ENSP00000367263:P4670Q	ENSP00000367263:P4670Q	P	-	2	0	AHNAK	62044456	1.000000	0.71417	0.992000	0.48379	0.247000	0.25773	5.242000	0.65389	2.397000	0.81536	0.549000	0.68633	CCA	.		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62287880	G	T	62287880	3	4	6	1	0	0	0	0	1	0	0	0	414	1348	47	3	3783	3	AHNAK	11	62287880	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	276954	62287880	72718636	176	837											
SLC22A10	387775	hgsc.bcm.edu	37	11	63066993	63066993	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:63066993G>T	ENST00000332793.6	+	6	964	c.962G>T	c.(961-963)aGa>aTa	p.R321I	SLC22A10_ENST00000544661.1_Missense_Mutation_p.R166I|SLC22A10_ENST00000535888.1_Missense_Mutation_p.R111I|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.R161I	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	321						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.R321K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AAGGTTGTAAGATCCACCATG	0.423																																					p.R321I		.											SLC22A10,bladder,carcinoma,0,1	SLC22A10	0	1	Substitution - Missense(1)	urinary_tract(1)	c.G962T						.						112	110	111					11																	63066993		1990	4163	6153	SO:0001583	missense	387775	exon6			TTGTAAGATCCAC	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.962G>T	11.37:g.63066993G>T	ENSP00000327569:p.Arg321Ile	49	0		45	2	NM_001039752	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498052	0.26861	.	.	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793;ENST00000526800	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.26	4.46	1.48	0.22813	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.74382	0.3709	M	0.65498	2.005	0.09310	N	1	B;P	0.36837	0.139;0.571	B;P	0.46208	0.273;0.507	T	0.65059	-0.6260	9	0.54805	T	0.06	.	4.1786	0.10363	0.2865:0.1716:0.5419:0.0	.	161;321	E9PJB1;Q63ZE4	.;S22AA_HUMAN	I	111;166;321;161	ENSP00000444602:R111I;ENSP00000445667:R166I;ENSP00000327569:R321I;ENSP00000433908:R161I	ENSP00000327569:R321I	R	+	2	0	SLC22A10	62823569	0.004000	0.15560	0.001000	0.08648	0.278000	0.26855	-0.128000	0.10531	0.152000	0.19188	0.579000	0.79373	AGA	.		0.423	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		T	63066993	G	T	63066993	3	4	6	1	0	0	0	0	1	0	0	0	14486	942	33	3	984	3	SLC22A10	11	63066993	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	779113	63066993	71939523	177	838											
RASGRP2	10235	hgsc.bcm.edu;bcgsc.ca	37	11	64509528	64509528	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:64509528G>T	ENST00000354024.3	-	3	382	c.130C>A	c.(130-132)Ccc>Acc	p.P44T	RASGRP2_ENST00000377494.1_Missense_Mutation_p.P44T|RASGRP2_ENST00000394428.1_Intron|RASGRP2_ENST00000394430.1_Missense_Mutation_p.P44T|RASGRP2_ENST00000377486.3_Missense_Mutation_p.P44T|RASGRP2_ENST00000377487.1_Missense_Mutation_p.P44T|RASGRP2_ENST00000394429.1_Intron|RASGRP2_ENST00000394432.3_Missense_Mutation_p.P44T|RASGRP2_ENST00000377497.3_Missense_Mutation_p.P44T|RASGRP2_ENST00000377489.1_Missense_Mutation_p.P44T	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	44	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGTACCAGGGGTGCATCATG	0.652																																					p.P44T		.											.	.	.	0			c.C130A						.						44	42	43					11																	64509528		2201	4297	6498	SO:0001583	missense	10235	exon3			ACCAGGGGTGCAT	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.130C>A	11.37:g.64509528G>T	ENSP00000338864:p.Pro44Thr	44	0		47	4	NM_001098671	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305151	0.40795	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594;ENST00000377485;ENST00000430645	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.67	3.76	0.43208	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.059521	0.64402	D	0.000002	T	0.34164	0.0888	L	0.57536	1.79	0.49582	D	0.9998	P	0.36577	0.558	B	0.41271	0.352	T	0.20840	-1.0263	10	0.59425	D	0.04	-24.1534	11.3297	0.49468	0.0923:0.0:0.9077:0.0	.	44	Q7LDG7	GRP2_HUMAN	T	44	ENSP00000366714:P44T;ENSP00000377953:P44T;ENSP00000366717:P44T;ENSP00000338864:P44T;ENSP00000399114:P44T;ENSP00000366706:P44T;ENSP00000366707:P44T;ENSP00000366709:P44T;ENSP00000377951:P44T;ENSP00000366705:P44T;ENSP00000401314:P44T	ENSP00000338864:P44T	P	-	1	0	RASGRP2	64266104	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.999000	0.63934	1.290000	0.44636	0.313000	0.20887	CCC	.		0.652	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		T	64509528	G	T	64509528	3	4	6	1	0	0	0	0	1	0	0	0	13120	1232	43	3	1755	3	RASGRP2	11	64509528	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1442535	64509528	70496988	178	839											
FOSL1	8061	hgsc.bcm.edu	37	11	65664318	65664318	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:65664318C>A	ENST00000312562.2	-	2	445	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	FOSL1_ENST00000532401.1_Missense_Mutation_p.G87W|FOSL1_ENST00000531493.1_Missense_Mutation_p.G87W|FOSL1_ENST00000448083.2_Intron	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	87					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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 gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GGAGGCGGCCCCAGGGCCCGG	0.647																																					p.G87W		.											FOSL1,NS,neuroblastoma,0,1	FOSL1	0	0			c.G259T						.						39	45	43					11																	65664318		2201	4296	6497	SO:0001583	missense	8061	exon2			GCGGCCCCAGGGC	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"basic leucine zipper proteins"	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.259G>T	11.37:g.65664318C>A	ENSP00000310170:p.Gly87Trp	55	0		41	2	NM_005438	B4DR11|Q6FG51	Missense_Mutation	SNP	ENST00000312562.2	37	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929629	0.73327	.	.	ENSG00000175592	ENST00000455710;ENST00000312562;ENST00000531493;ENST00000532401	T	0.79749	-1.3	5.04	5.04	0.67666	.	0.188435	0.45867	D	0.000334	D	0.86280	0.5895	L	0.55990	1.75	0.48185	D	0.999609	D	0.76494	0.999	D	0.66847	0.947	D	0.87424	0.2384	10	0.87932	D	0	-24.0023	14.2849	0.66240	0.0:1.0:0.0:0.0	.	87	P15407	FOSL1_HUMAN	W	87	ENSP00000310170:G87W	ENSP00000310170:G87W	G	-	1	0	FOSL1	65420894	0.998000	0.40836	0.999000	0.59377	0.968000	0.65278	4.708000	0.61859	2.523000	0.85059	0.655000	0.94253	GGG	.		0.647	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		A	65664318	C	A	65664318	3	1	6	1	0	0	0	0	1	0	0	0	6009	623	22	3	568	3	FOSL1	11	65664318	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1154790	65664318	69342198	179	840											
PC	5091	ucsc.edu;bcgsc.ca	37	11	66639209	66639209	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:66639209C>A	ENST00000393958.2	-	4	363	c.270G>T	c.(268-270)ctG>ctT	p.L90L	PC_ENST00000524491.1_Silent_p.L50L|PC_ENST00000355677.3_Silent_p.L90L|PC_ENST00000393955.2_Silent_p.L90L|PC_ENST00000393960.1_Silent_p.L90L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	90	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)	GCACGGGGGCCAGGCCGCGGC	0.647																																					p.L90L													.	PC	116	0			c.G270T						.						26	29	28					11																	66639209		2187	4284	6471	SO:0001819	synonymous_variant	5091	exon4			GGGGGCCAGGCCG	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.270G>T	11.37:g.66639209C>A		24	0		33	4	NM_000920	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																			.		0.647	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		A	66639209	C	A	66639209	2	1	6	1	0	0	0	0	0	0	0	1	11536	581	21	3		3	PC	11	66639209	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	974891	66639209	68367307	180	841											
MMP8	4317	hgsc.bcm.edu;bcgsc.ca	37	11	102592253	102592253	+	Silent	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:102592253G>A	ENST00000236826.3	-	4	599	c.501C>T	c.(499-501)caC>caT	p.H167H		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	167					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)	AATTGTCACCGTGATCTGAAA	0.428																																					p.H167H		.											.	.	.	0			c.C501T						.						136	117	123					11																	102592253		2203	4299	6502	SO:0001819	synonymous_variant	4317	exon4			GTCACCGTGATCT	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.501C>T	11.37:g.102592253G>A		107	0		77	4	NM_002424	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	7.340	0.620687	0.14193	.	.	ENSG00000118113	ENST00000438475	.	.	.	5.75	3.39	0.38822	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50874	-0.8776	4	.	.	.	.	8.2254	0.31566	0.7329:0.0:0.2671:0.0	.	.	.	.	W	143	.	.	R	-	1	2	MMP8	102097463	0.999000	0.42202	1.000000	0.80357	0.899000	0.52679	2.167000	0.42415	0.456000	0.26937	-0.982000	0.02568	CGG	.		0.428	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		A	102592253	G	A	102592253	2	1	6	1	0	0	0	0	0	0	0	1	9706	1136	40	1		1	MMP8	11	102592253	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	35953044	102592253	32414263	181	842											
CASP1	834	hgsc.bcm.edu	37	11	104899882	104899882	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:104899882C>A	ENST00000533400.1	-	7	1010	c.975G>T	c.(973-975)aaG>aaT	p.K325N	CASP1_ENST00000593315.1_Missense_Mutation_p.K304N|CASP1_ENST00000525825.1_Missense_Mutation_p.K304N|CASP1_ENST00000598974.1_Missense_Mutation_p.K325N|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.K286N|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.K304N|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.K325N|CASP1_ENST00000527979.1_Missense_Mutation_p.K288N|CASP1_ENST00000526568.1_Missense_Mutation_p.K232N	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	325					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)	CGATAAAATCCTTCTCTATGT	0.398																																					p.K325N	NSCLC(41;1246 1743 4934)	.											.	.	.	0			c.G975T						.						122	113	116					11																	104899882		2202	4299	6501	SO:0001583	missense	834	exon7			AAAATCCTTCTCT	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.975G>T	11.37:g.104899882C>A	ENSP00000433138:p.Lys325Asn	70	0		59	3	NM_001257118	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.586446	0.46110	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	4.34	1.7	0.24286	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.172475	0.51477	D	0.000090	T	0.43411	0.1246	M	0.88450	2.955	0.26959	N	0.965852	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;0.995;0.999;1.0;0.999;1.0	T	0.28364	-1.0046	10	0.49607	T	0.09	.	3.1042	0.06336	0.1928:0.5081:0.0:0.2991	.	286;325;304;325;288;232	B4DVD8;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	N	174;232;288;325;325;304;304;286	ENSP00000435536:K174N;ENSP00000434250:K232N;ENSP00000432340:K288N;ENSP00000433138:K325N;ENSP00000410076:K325N;ENSP00000376844:K304N;ENSP00000434779:K304N;ENSP00000434259:K286N	ENSP00000376844:K304N	K	-	3	2	CASP1	104405092	0.998000	0.40836	0.993000	0.49108	0.663000	0.39108	0.306000	0.19279	0.267000	0.21916	0.557000	0.71058	AAG	.		0.398	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		A	104899882	C	A	104899882	3	1	6	1	0	0	0	0	1	0	0	0	2675	680	24	3	251	3	CASP1	11	104899882	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2307629	104899882	30106634	182	843											
ZNF259	8882	hgsc.bcm.edu;bcgsc.ca	37	11	116657702	116657702	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:116657702G>A	ENST00000227322.3	-	3	466	c.407C>T	c.(406-408)gCc>gTc	p.A136V		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		136					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTGGCTAAAGGCAGGAATTTC	0.453																																					p.A136V		.											.	.	.	0			c.C407T						.						164	169	167					11																	116657702		2201	4296	6497	SO:0001583	missense	8882	exon3			CTAAAGGCAGGAA																												ENST00000227322.3:c.407C>T	11.37:g.116657702G>A	ENSP00000227322:p.Ala136Val	81	0		63	4	NM_003904	Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.300229|4.300229	0.81136|0.81136	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000444935	T|.	0.43688|.	0.94|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Zinc finger, ZPR1-type (3);|.	0.099589|.	0.64402|.	D|.	0.000002|.	T|T	0.73984|0.73984	0.3657|0.3657	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	P;P|.	0.47841|.	0.785;0.901|.	B;P|.	0.46585|.	0.343;0.521|.	T|T	0.71636|0.71636	-0.4533|-0.4533	10|5	0.22706|.	T|.	0.39|.	-9.9865|-9.9865	19.313|19.313	0.94199|0.94199	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	85;136|.	B4DVT8;O75312|.	.;ZPR1_HUMAN|.	V|S	136|136	ENSP00000227322:A136V|.	ENSP00000227322:A136V|.	A|P	-|-	2|1	0|0	ZNF259|ZNF259	116162912|116162912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.679000|8.679000	0.91220|0.91220	2.622000|2.622000	0.88805|0.88805	0.555000|0.555000	0.69702|0.69702	GCC|CCT	.		0.453	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			A	116657702	G	A	116657702	3	1	6	1	0	0	0	0	1	0	0	0	17849	1203	42	3	1020	3	ZNF259	11	116657702	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	11757820	116657702	18348814	183	844											
IL10RA	3587	broad.mit.edu	37	11	117869604	117869604	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:117869604C>A	ENST00000227752.3	+	7	1105	c.985C>A	c.(985-987)Cag>Aag	p.Q329K	IL10RA_ENST00000545409.1_Missense_Mutation_p.Q180K|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q309K|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	329					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)		GCCATCCCTGCAGACTGAAGA	0.607																																					p.Q329K													.	IL10RA	46	0			c.C985A						.						83	71	75					11																	117869604		2200	4296	6496	SO:0001583	missense	3587	exon7			TCCCTGCAGACTG	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.985C>A	11.37:g.117869604C>A	ENSP00000227752:p.Gln329Lys	32	0		32	3	NM_001558	A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926862	0.73327	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.25085	1.82;1.82;1.82	5.56	5.56	0.83823	.	0.786477	0.11748	N	0.533297	T	0.32346	0.0826	M	0.71581	2.175	0.33392	D	0.576225	P;P	0.45715	0.865;0.787	B;B	0.43478	0.421;0.241	T	0.35226	-0.9797	10	0.06625	T	0.88	-23.9982	16.2392	0.82399	0.0:1.0:0.0:0.0	.	309;329	F5GYV8;Q13651	.;I10R1_HUMAN	K	329;309;180;309	ENSP00000227752:Q329K;ENSP00000441397:Q309K;ENSP00000443019:Q180K	ENSP00000227752:Q329K	Q	+	1	0	IL10RA	117374814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.524000	0.45589	2.607000	0.88179	0.563000	0.77884	CAG	.		0.607	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			A	117869604	C	A	117869604	3	1	6	1	0	0	0	0	1	0	0	0	7647	711	25	3	1011	3	IL10RA	11	117869604	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1211902	117869604	17136912	184	845											
UBE4A	9354	hgsc.bcm.edu;ucsc.edu	37	11	118263498	118263498	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:118263498G>T	ENST00000431736.2	+	19	3055	c.2983G>T	c.(2983-2985)Gcc>Tcc	p.A995S	UBE4A_ENST00000545354.1_Missense_Mutation_p.A460S|UBE4A_ENST00000252108.3_Missense_Mutation_p.A988S					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)		CTATGCAGATGCCTGTGATGA	0.468																																					p.A995S		.											.	.	.	0			c.G2983T						.						181	162	169					11																	118263498		2200	4296	6496	SO:0001583	missense	9354	exon19			GCAGATGCCTGTG	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.2983G>T	11.37:g.118263498G>T	ENSP00000387362:p.Ala995Ser	16	0		34	4	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617751	0.96649	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.52754	0.66;0.65	5.95	5.95	0.96441	U box domain (1);	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.68039	0.955;0.909	T	0.75110	-0.3433	10	0.59425	D	0.04	-9.2261	20.3931	0.98965	0.0:0.0:1.0:0.0	.	988;995	Q14139;Q14139-2	UBE4A_HUMAN;.	S	988;995;460	ENSP00000252108:A988S;ENSP00000387362:A995S	ENSP00000252108:A988S	A	+	1	0	UBE4A	117768708	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GCC	.		0.468	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		T	118263498	G	T	118263498	3	4	6	1	0	0	0	0	1	0	0	0	16931	1319	46	3	3053	3	UBE4A	11	118263498	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	393894	118263498	16743018	185	846											
STT3A	3703	hgsc.bcm.edu	37	11	125484040	125484040	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr11:125484040G>T	ENST00000529196.1	+	15	1819	c.1613G>T	c.(1612-1614)cGa>cTa	p.R538L	STT3A_ENST00000392708.4_Missense_Mutation_p.R538L|STT3A_ENST00000531491.1_Missense_Mutation_p.R446L			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	538					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)		ATGGCAAACCGAACAATTTTA	0.408																																					p.R538L		.											STT3A,colon,carcinoma,0,1	STT3A	0	0			c.G1613T						.						211	194	200					11																	125484040		2201	4299	6500	SO:0001583	missense	3703	exon14			CAAACCGAACAAT	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.1613G>T	11.37:g.125484040G>T	ENSP00000436962:p.Arg538Leu	53	0		68	3	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414419	0.96092	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	D;D;D	0.91011	-2.77;-2.77;-2.77	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.97318	0.9123	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.97925	1.0317	10	0.87932	D	0	-15.5287	19.984	0.97341	0.0:0.0:1.0:0.0	.	446;538	B4DJ24;P46977	.;STT3A_HUMAN	L	538;538;446	ENSP00000376472:R538L;ENSP00000436962:R538L;ENSP00000432820:R446L	ENSP00000376472:R538L	R	+	2	0	STT3A	124989250	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA	.		0.408	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		T	125484040	G	T	125484040	3	4	6	1	0	0	0	0	1	0	0	0	15380	1058	37	2	1663	2	STT3A	11	125484040	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	7220542	125484040	9522476	186	847											
CACNA1C	775	hgsc.bcm.edu;bcgsc.ca	37	12	2721141	2721141	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:2721141G>T	ENST00000347598.4	+	30	3850	c.3850G>T	c.(3850-3852)Gtg>Ttg	p.V1284L	CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1284L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399655.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1264L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1289L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1264L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1264L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1284					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)	CCTCTTCACCGTGGAGATGAT	0.547																																					p.V1284L		.											.	.	.	0			c.G3850T						.						119	114	116					12																	2721141		2180	4292	6472	SO:0001583	missense	775	exon30			TTCACCGTGGAGA	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.3850G>T	12.37:g.2721141G>T	ENSP00000266376:p.Val1284Leu	39	0		45	4	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	19.72	3.879420	0.72294	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98345	-4.88;-4.88;-4.23;-4.88;-4.23;-4.88;-4.88;-4.88;-4.88;-4.88;-4.23;-4.88;-4.88;-4.88;-4.23;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88	5.2	4.24	0.50183	.	0.066942	0.64402	D	0.000010	D	0.96839	0.8968	N	0.12471	0.22	0.58432	D	0.999995	D;D;P;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;B;D	0.76494	0.994;0.999;0.633;0.989;0.998;0.999;0.998;0.392;0.33;0.998;0.999;0.177;0.998;0.999;0.996;0.984;0.214;0.999;0.016;0.999;0.999;0.999;0.999;0.05;0.999	D;D;P;D;D;D;D;P;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;B;D	0.85130	0.987;0.997;0.492;0.987;0.997;0.997;0.997;0.463;0.218;0.997;0.997;0.174;0.997;0.996;0.996;0.972;0.072;0.997;0.025;0.997;0.997;0.997;0.997;0.06;0.995	D	0.94360	0.7587	10	0.13470	T	0.59	.	14.8326	0.70159	0.0:0.0:0.8555:0.1445	.	1264;1261;1284;1264;1264;1264;1264;1264;1264;1284;1264;1235;1284;1264;1264;1264;1264;1264;1264;1264;1264;1264;1264;1264;1264	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;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	1289;1264;1264;1264;1264;1264;1264;1264;1264;1264;1284;1284;1264;1264;1264;1264;1264;1264;1264;1264;1264;1264;1264;1105	ENSP00000336982:V1289L;ENSP00000382563:V1264L;ENSP00000437936:V1264L;ENSP00000382552:V1264L;ENSP00000382547:V1264L;ENSP00000382506:V1264L;ENSP00000382530:V1264L;ENSP00000382546:V1264L;ENSP00000382500:V1264L;ENSP00000382549:V1264L;ENSP00000266376:V1284L;ENSP00000382515:V1284L;ENSP00000382510:V1264L;ENSP00000341092:V1264L;ENSP00000382537:V1264L;ENSP00000329877:V1264L;ENSP00000382557:V1264L;ENSP00000385724:V1264L;ENSP00000382512:V1264L;ENSP00000382542:V1264L;ENSP00000382526:V1264L;ENSP00000385896:V1264L;ENSP00000382504:V1264L	ENSP00000323129:V1105L	V	+	1	0	CACNA1C	2591402	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	6.695000	0.74593	2.570000	0.86706	0.655000	0.94253	GTG	.		0.547	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2721141	G	T	2721141	3	4	6	1	0	0	0	0	1	0	0	0	2547	1145	40	2	4076	2	CACNA1C	12	2721141	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		2721141	131130754	187	848											
PLBD1	79887	hgsc.bcm.edu	37	12	14664306	14664306	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:14664306C>A	ENST00000240617.5	-	8	1726	c.1074G>T	c.(1072-1074)ctG>ctT	p.L358L		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	358					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						TCTTCAGGTCCAGAACCATGT	0.383																																					p.L358L		.											.	.	.	0			c.G1074T						.						148	128	135					12																	14664306		2203	4300	6503	SO:0001819	synonymous_variant	79887	exon8			CAGGTCCAGAACC	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.1074G>T	12.37:g.14664306C>A		85	0		90	3	NM_024829	A8K4E9|Q9BVV3|Q9H625	Silent	SNP	ENST00000240617.5	37	CCDS31751.1																																																																																			.		0.383	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		A	14664306	C	A	14664306	2	1	6	1	0	0	0	0	0	0	0	1	12064	581	21	3		3	PLBD1	12	14664306	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	11943165	14664306	119187589	188	849											
PDE3A	5139	hgsc.bcm.edu;bcgsc.ca	37	12	20801776	20801776	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:20801776C>T	ENST00000359062.3	+	13	2760	c.2720C>T	c.(2719-2721)gCc>gTc	p.A907V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	907	Catalytic. {ECO:0000250}.				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)	GCAATTTTGGCCACTGACCTG	0.353																																					p.A907V		.											.	.	.	0			c.C2720T						.						109	103	105					12																	20801776		2203	4300	6503	SO:0001583	missense	5139	exon13			TTTTGGCCACTGA		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.2720C>T	12.37:g.20801776C>T	ENSP00000351957:p.Ala907Val	88	0		86	4	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166831	0.94768	.	.	ENSG00000172572	ENST00000359062	D	0.86769	-2.17	5.33	5.33	0.75918	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.103999	0.64402	D	0.000003	D	0.96119	0.8735	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97274	0.9913	10	0.87932	D	0	.	19.3805	0.94530	0.0:1.0:0.0:0.0	.	907	Q14432	PDE3A_HUMAN	V	907	ENSP00000351957:A907V	ENSP00000351957:A907V	A	+	2	0	PDE3A	20693043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.653000	0.90120	0.557000	0.71058	GCC	.		0.353	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20801776	C	T	20801776	3	4	6	1	0	0	0	0	1	0	0	0	11676	739	26	3	2770	3	PDE3A	12	20801776	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	6137470	20801776	113050119	189	850											
MLL2	8085	bcgsc.ca	37	12	49421075	49421075	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:49421075G>A	ENST00000301067.7	-	48	14673	c.14674C>T	c.(14674-14676)Cac>Tac	p.H4892Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4892					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)										GTATAGCTGTGCTGAGTGGGT	0.607																																					p.H4892Y													.	MLL2	1173	0			c.C14674T						.						98	104	102					12																	49421075		1830	3925	5755	SO:0001583	missense	9757	exon48			AGCTGTGCTGAGT	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.14674C>T	12.37:g.49421075G>A	ENSP00000301067:p.His4892Tyr	47	0		50	4	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899962	0.33535	.	.	ENSG00000167548	ENST00000301067	D	0.81579	-1.51	4.03	4.03	0.46877	.	0.000000	0.38272	N	0.001753	D	0.88738	0.6518	M	0.73962	2.25	0.58432	D	0.999995	D	0.71674	0.998	D	0.78314	0.991	D	0.90421	0.4417	10	0.87932	D	0	.	15.4834	0.75545	0.0:0.0:1.0:0.0	.	4892	O14686	MLL2_HUMAN	Y	4892	ENSP00000301067:H4892Y	ENSP00000301067:H4892Y	H	-	1	0	MLL2	47707342	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.300000	0.78841	2.255000	0.74692	0.655000	0.94253	CAC	.		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49421075	G	A	49421075	3	1	6	1	0	0	0	0	1	0	0	0	9659	1319	46	3	1967	3	MLL2	12	49421075	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	28619299	49421075	84430820	190	851											
FAIM2	23017	hgsc.bcm.edu	37	12	50294991	50294991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:50294991C>A	ENST00000320634.3	-	2	227	c.133G>T	c.(133-135)Gag>Tag	p.E45*	FAIM2_ENST00000550890.1_5'UTR	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	45					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)		p.E45Q(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TTCATCCCCTCCCCAGAGGTG	0.662																																					p.E45X		.											FAIM2,NS,carcinoma,0,1	FAIM2	0	1	Substitution - Missense(1)	lung(1)	c.G133T						.						30	31	31					12																	50294991		2203	4299	6502	SO:0001587	stop_gained	23017	exon2			TCCCCTCCCCAGA	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.133G>T	12.37:g.50294991C>A	ENSP00000321951:p.Glu45*	47	0		49	2	NM_012306	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Nonsense_Mutation	SNP	ENST00000320634.3	37	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	C	38	6.833932	0.97873	.	.	ENSG00000135472	ENST00000320634;ENST00000550635	.	.	.	5.31	5.31	0.75309	.	0.076770	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-19.7636	14.4843	0.67606	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000321951:E45X	E	-	1	0	FAIM2	48581258	0.998000	0.40836	1.000000	0.80357	0.869000	0.49853	3.545000	0.53648	2.511000	0.84671	0.561000	0.74099	GAG	.		0.662	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		A	50294991	C	A	50294991	4	1	6	1	0	0	0	0	0	1	0	0	5395	864	30	3	861	3	FAIM2	12	50294991	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	873916	50294991	83556904	191	852											
RACGAP1	29127	hgsc.bcm.edu;bcgsc.ca	37	12	50395035	50395035	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:50395035G>T	ENST00000427314.2	-	9	773	c.550C>A	c.(550-552)Cgc>Agc	p.R184S	RACGAP1_ENST00000434422.1_Splice_Site_p.R184S|RACGAP1_ENST00000454520.2_Splice_Site_p.R184S|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000551016.1_Splice_Site_p.R184S|RACGAP1_ENST00000547905.1_Splice_Site_p.R184S|RACGAP1_ENST00000312377.5_Splice_Site_p.R184S	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTAGTAGAGCGCTAGAAAGGA	0.458																																					p.R184S		.											RACGAP1,NS,carcinoma,0,1	RACGAP1	0	0			c.C550A						.						55	56	56					12																	50395035		2203	4300	6503	SO:0001630	splice_region_variant	29127	exon9			TAGAGCGCTAGAA		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.550-1C>A	12.37:g.50395035G>T		44	0		51	4	NM_013277		Missense_Mutation	SNP	ENST00000427314.2	37	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689722	0.88735	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595	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	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77164	0.4090	M	0.78637	2.42	0.80722	D	1	D	0.54772	0.968	P	0.48063	0.565	T	0.76737	-0.2849	10	0.33940	T	0.23	-7.9015	18.2003	0.89836	0.0:0.0:1.0:0.0	.	184	Q9H0H5	RGAP1_HUMAN	S	184;184;184;184;184;184;184;110;110;126	ENSP00000404190:R184S;ENSP00000309871:R184S;ENSP00000413241:R184S;ENSP00000404808:R184S;ENSP00000449374:R184S;ENSP00000449370:R184S;ENSP00000448697:R184S;ENSP00000446642:R110S;ENSP00000447429:R110S;ENSP00000449963:R126S	ENSP00000309871:R184S	R	-	1	0	RACGAP1	48681302	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.961000	0.76042	2.718000	0.92993	0.655000	0.94253	CGC	.		0.458	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277	Missense_Mutation	T	50395035	G	T	50395035	5	4	6	1	0	0	0	0	0	0	1	0	13022	1101	38	2	1392	2	RACGAP1	12	50395035	Splice_Site	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	100044	50395035	83456860	192	853											
TFCP2	7024	hgsc.bcm.edu	37	12	51503017	51503017	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:51503017C>A	ENST00000257915.5	-	6	1062	c.604G>T	c.(604-606)Ggt>Tgt	p.G202C	TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.G202C	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	202	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TTTTCTCCACCATGTTTCCTC	0.463																																					p.G202C		.											.	.	.	0			c.G604T						.						159	147	151					12																	51503017		2203	4300	6503	SO:0001583	missense	7024	exon6			CTCCACCATGTTT	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.604G>T	12.37:g.51503017C>A	ENSP00000257915:p.Gly202Cys	57	0		74	3	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593526	0.86953	.	.	ENSG00000135457	ENST00000257915;ENST00000549867;ENST00000548108	T;T;T	0.40476	1.51;1.65;1.03	5.61	4.72	0.59763	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.97110	0.967;1.0;0.996	T	0.75340	-0.3352	10	0.87932	D	0	-16.3092	13.9806	0.64301	0.0:0.9257:0.0:0.0743	.	202;202;202	F8VX55;Q12800;Q12800-4	.;TFCP2_HUMAN;.	C	202;202;104	ENSP00000257915:G202C;ENSP00000449742:G202C;ENSP00000449280:G104C	ENSP00000257915:G202C	G	-	1	0	TFCP2	49789284	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.723000	0.84788	1.528000	0.49103	0.655000	0.94253	GGT	.		0.463	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		A	51503017	C	A	51503017	3	1	6	1	0	0	0	0	1	0	0	0	15842	594	21	3	944	3	TFCP2	12	51503017	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1107982	51503017	82348878	193	854											
ITGB7	3695	hgsc.bcm.edu	37	12	53588035	53588035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:53588035C>A	ENST00000267082.5	-	10	1486	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	ITGB7_ENST00000422257.3_Nonsense_Mutation_p.E419*|ITGB7_ENST00000338737.4_Nonsense_Mutation_p.E419*|ITGB7_ENST00000550743.2_Nonsense_Mutation_p.E419*	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	419					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|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)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.E419K(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTACCCTCCCTCTTCTCA	0.587																																					p.E419X		.											ITGB7,NS,NS,0,1	ITGB7	0	1	Substitution - Missense(1)	NS(1)	c.G1255T						.						183	155	164					12																	53588035		2203	4300	6503	SO:0001587	stop_gained	3695	exon10			TACCCTCCCTCTT		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1255G>T	12.37:g.53588035C>A	ENSP00000267082:p.Glu419*	33	0		42	2	NM_000889	Q9UCP7|Q9UCS7	Nonsense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699275	0.96802	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	.	.	.	4.91	3.06	0.35304	.	1.413410	0.04969	N	0.463500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	2.128	0.03743	0.1554:0.5038:0.1683:0.1725	.	.	.	.	X	419	.	ENSP00000267082:E419X	E	-	1	0	ITGB7	51874302	0.002000	0.14202	0.002000	0.10522	0.312000	0.27988	0.907000	0.28531	0.583000	0.29574	0.655000	0.94253	GAG	.		0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			A	53588035	C	A	53588035	4	1	6	1	0	0	0	0	0	1	0	0	7927	864	30	3	1169	3	ITGB7	12	53588035	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2085018	53588035	80263860	194	855											
CNOT2	4848	hgsc.bcm.edu	37	12	70735907	70735907	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:70735907C>T	ENST00000418359.3	+	13	1650	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	CNOT2_ENST00000229195.3_Missense_Mutation_p.A400V|CNOT2_ENST00000551483.1_Missense_Mutation_p.A51V	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	400					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)	p.A400V(1)		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)			CCCAAATTTGCGTCACCCTGG	0.343																																					p.A400V		.											CNOT2,NS,carcinoma,0,1	CNOT2	0	1	Substitution - Missense(1)	endometrium(1)	c.C1199T						.						127	127	127					12																	70735907		2203	4300	6503	SO:0001583	missense	4848	exon13			AATTTGCGTCACC	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.1199C>T	12.37:g.70735907C>T	ENSP00000412091:p.Ala400Val	40	0		49	3	NM_001199302	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352785	0.82132	.	.	ENSG00000111596	ENST00000229195;ENST00000418359;ENST00000550160;ENST00000548159;ENST00000551043;ENST00000551483	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.79	5.79	0.91817	NOT2/NOT3/NOT5 (1);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.39397	1.21	0.80722	D	1	B;P	0.48407	0.416;0.91	B;P	0.51999	0.146;0.687	T	0.35176	-0.9799	10	0.41790	T	0.15	-1.1205	20.0221	0.97508	0.0:1.0:0.0:0.0	.	400;400	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	V	400;400;263;391;400;51	ENSP00000229195:A400V;ENSP00000412091:A400V;ENSP00000449659:A391V;ENSP00000449260:A400V;ENSP00000448883:A51V	ENSP00000229195:A400V	A	+	2	0	CNOT2	69022174	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.768000	0.85345	2.732000	0.93576	0.650000	0.86243	GCG	.		0.343	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			T	70735907	C	T	70735907	3	4	6	1	0	0	0	0	1	0	0	0	3626	768	27	1	1241	1	CNOT2	12	70735907	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	17147872	70735907	63115988	195	856											
NAP1L1	4673	hgsc.bcm.edu	37	12	76447054	76447054	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:76447054C>A	ENST00000261182.8	-	10	1333	c.847G>T	c.(847-849)Ggg>Tgg	p.G283W	NAP1L1_ENST00000535020.2_Missense_Mutation_p.G283W|NAP1L1_ENST00000393263.3_Missense_Mutation_p.G283W|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G241W|NAP1L1_ENST00000547993.1_Missense_Mutation_p.G100W|NAP1L1_ENST00000549596.1_Missense_Mutation_p.G283W|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G100W|NAP1L1_ENST00000548044.1_Missense_Mutation_p.G242W|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G220W|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G215W|NAP1L1_ENST00000552342.1_Missense_Mutation_p.G294W	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	283					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)				CGAACTGTCCCACGTCCCTTG	0.363																																					p.G283W		.											.	.	.	0			c.G847T						.						137	139	138					12																	76447054		2203	4300	6503	SO:0001583	missense	4673	exon10			CTGTCCCACGTCC		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.847G>T	12.37:g.76447054C>A	ENSP00000261182:p.Gly283Trp	88	0		89	4	NM_004537	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997618	0.93227	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	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	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.91872	3.25	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	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;0.999	T	0.81326	-0.0983	10	0.87932	D	0	.	20.4025	0.99000	0.0:1.0:0.0:0.0	.	283;241;294;283;215;220;283	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	W	283;277;283;215;220;100;241;283;283;100;294;242	ENSP00000261182:G283W;ENSP00000450236:G277W;ENSP00000376947:G283W;ENSP00000409795:G215W;ENSP00000448167:G220W;ENSP00000437507:G100W;ENSP00000444759:G241W;ENSP00000445008:G283W;ENSP00000447793:G283W;ENSP00000448007:G100W;ENSP00000447196:G294W;ENSP00000449649:G242W	ENSP00000261182:G283W	G	-	1	0	NAP1L1	74733321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.828000	0.97474	0.650000	0.86243	GGG	.		0.363	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		A	76447054	C	A	76447054	3	1	6	1	0	0	0	0	1	0	0	0	10194	594	21	3	352	3	NAP1L1	12	76447054	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	5711147	76447054	57404841	196	857											
MYF5	4617	hgsc.bcm.edu	37	12	81110964	81110964	+	Missense_Mutation	SNP	C	C	T	rs375022310		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:81110964C>T	ENST00000228644.3	+	1	274	c.122C>T	c.(121-123)gCg>gTg	p.A41V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	41					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	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)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCCTTCGGAGCGCACAAAGCA	0.622																																					p.A41V		.											MYF5,colon,carcinoma,0,1	MYF5	0	0			c.C122T						.						37	34	35					12																	81110964		2203	4300	6503	SO:0001583	missense	4617	exon1			TCGGAGCGCACAA		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.122C>T	12.37:g.81110964C>T	ENSP00000228644:p.Ala41Val	26	0		21	2	NM_005593	Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573703	0.45902	.	.	ENSG00000111049	ENST00000228644	T	0.77229	-1.08	6.17	1.04	0.20106	Myogenic basic muscle-specific protein (2);	0.275748	0.39985	N	0.001209	T	0.64360	0.2591	L	0.47016	1.485	0.33258	D	0.559396	B	0.09022	0.002	B	0.11329	0.006	T	0.55541	-0.8125	10	0.16896	T	0.51	-2.5878	6.4832	0.22075	0.0:0.5536:0.239:0.2073	.	41	P13349	MYF5_HUMAN	V	41	ENSP00000228644:A41V	ENSP00000228644:A41V	A	+	2	0	MYF5	79635095	0.094000	0.21725	0.151000	0.22473	0.960000	0.62799	0.484000	0.22308	-0.074000	0.12820	-0.137000	0.14449	GCG	.		0.622	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		T	81110964	C	T	81110964	3	4	6	1	0	0	0	0	1	0	0	0	10065	768	27	1	124	1	MYF5	12	81110964	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4663910	81110964	52740931	197	858											
ACSS3	79611	hgsc.bcm.edu	37	12	81536974	81536974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:81536974C>A	ENST00000548058.1	+	5	1779	c.869C>A	c.(868-870)tCa>tAa	p.S290*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.S289*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	290						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						CCTGTTCTTTCAGAACACCCA	0.453																																					p.S290X		.											ACSS3,bladder,carcinoma,0,1	ACSS3	0	0			c.C869A						.						128	116	120					12																	81536974		2203	4300	6503	SO:0001587	stop_gained	79611	exon5			TTCTTTCAGAACA		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.869C>A	12.37:g.81536974C>A	ENSP00000449535:p.Ser290*	58	0		50	3	NM_024560	Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	37	6.173881	0.97348	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	.	.	.	5.58	5.58	0.84498	.	0.054145	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-9.7518	19.9439	0.97175	0.0:1.0:0.0:0.0	.	.	.	.	X	290;289	.	ENSP00000261206:S289X	S	+	2	0	ACSS3	80061105	1.000000	0.71417	0.974000	0.42286	0.845000	0.48019	7.561000	0.82288	2.797000	0.96272	0.561000	0.74099	TCA	.		0.453	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		A	81536974	C	A	81536974	4	1	6	1	0	0	0	0	0	1	0	0	190	838	29	3	887	3	ACSS3	12	81536974	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	426010	81536974	52314921	198	859											
STAB2	55576	hgsc.bcm.edu	37	12	104100719	104100719	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:104100719C>A	ENST00000388887.2	+	38	4350	c.4146C>A	c.(4144-4146)gcC>gcA	p.A1382A		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						GCGGCACAGCCTGCGAGACCT	0.567																																					p.A1382A		.											STAB2,right_upper_lobe,carcinoma,0,1	STAB2	0	0			c.C4146A						.						116	93	101					12																	104100719		2203	4300	6503	SO:0001819	synonymous_variant	55576	exon38			CACAGCCTGCGAG	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.4146C>A	12.37:g.104100719C>A		25	0		14	2	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																			.		0.567	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104100719	C	A	104100719	2	1	6	1	0	0	0	0	0	0	0	1	15285	668	24	3		3	STAB2	12	104100719	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	22563745	104100719	29751176	199	860											
NFYB	4801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	104517018	104517018	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:104517018G>T	ENST00000240055.3	-	5	642	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	RNA5SP370_ENST00000362545.1_RNA|NFYB_ENST00000551727.1_Missense_Mutation_p.Q139K	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	139	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTGAATTTCTGAAGGTATAAT	0.363																																					p.Q139K		.											.	.	.	0			c.C415A						.						76	74	75					12																	104517018		2203	4300	6503	SO:0001583	missense	4801	exon5			ATTTCTGAAGGTA		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.415C>A	12.37:g.104517018G>T	ENSP00000240055:p.Gln139Lys	38	0		29	4	NM_006166	A8K7B9|Q96IY8	Missense_Mutation	SNP	ENST00000240055.3	37	CCDS9098.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.029601	0.75504	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	T;T	0.21932	1.98;1.98	5.49	5.49	0.81192	Histone-fold (2);	0.111193	0.64402	D	0.000006	T	0.28067	0.0692	M	0.72894	2.215	0.80722	D	1	B	0.31435	0.323	B	0.24394	0.053	T	0.07065	-1.0792	10	0.59425	D	0.04	-18.2343	19.3764	0.94512	0.0:0.0:1.0:0.0	.	139	P25208	NFYB_HUMAN	K	139	ENSP00000240055:Q139K;ENSP00000447486:Q139K	ENSP00000240055:Q139K	Q	-	1	0	NFYB	103041148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.582000	0.87167	0.591000	0.81541	CAG	.		0.363	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			T	104517018	G	T	104517018	3	4	6	1	0	0	0	0	1	0	0	0	10429	1299	45	3	224	3	NFYB	12	104517018	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	416299	104517018	29334877	200	861											
PWP1	11137	hgsc.bcm.edu	37	12	108097519	108097519	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:108097519G>A	ENST00000412830.3	+	10	1129	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PWP1_ENST00000541166.1_Missense_Mutation_p.D259N	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	321					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGCTCATATGATAAGTAAGA	0.398																																					p.D321N		.											PWP1,colon,carcinoma,0,1	PWP1	0	0			c.G961A						.						183	172	176					12																	108097519		2203	4300	6503	SO:0001583	missense	11137	exon10			TCATATGATAAGT	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.961G>A	12.37:g.108097519G>A	ENSP00000387365:p.Asp321Asn	41	0		28	2	NM_007062	A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707786	0.89018	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000541166	D;D	0.88975	-2.45;-2.45	5.99	5.99	0.97316	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	0.96442	0.8839	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96641	0.9474	10	0.72032	D	0.01	.	20.1322	0.98003	0.0:0.0:1.0:0.0	.	321	Q13610	PWP1_HUMAN	N	321;321;259	ENSP00000387365:D321N;ENSP00000445249:D259N	ENSP00000258531:D321N	D	+	1	0	PWP1	106621649	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	9.333000	0.96459	2.857000	0.98124	0.650000	0.86243	GAT	.		0.398	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		A	108097519	G	A	108097519	3	1	6	1	0	0	0	0	1	0	0	0	12888	1290	45	3	999	3	PWP1	12	108097519	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3580501	108097519	25754376	201	862											
SSH1	54434	hgsc.bcm.edu	37	12	109182282	109182282	+	Missense_Mutation	SNP	C	C	A	rs367620838		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:109182282C>A	ENST00000326495.5	-	15	2725	c.2632G>T	c.(2632-2634)Ggg>Tgg	p.G878W	SSH1_ENST00000360239.3_Missense_Mutation_p.G566W	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	878					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						TCATCACTCCCGGCCTGGCTG	0.652																																					p.G878W		.											SSH1,NS,carcinoma,0,1	SSH1	0	0			c.G2632T						.						23	28	26					12																	109182282		2199	4298	6497	SO:0001583	missense	54434	exon15			CACTCCCGGCCTG	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.2632G>T	12.37:g.109182282C>A	ENSP00000315713:p.Gly878Trp	42	0		39	2	NM_018984	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321187	0.23994	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12465	2.84;2.68	4.11	1.23	0.21249	.	1.114910	0.07262	U	0.867665	T	0.22589	0.0545	L	0.36672	1.1	0.09310	N	1	D;D	0.76494	0.981;0.999	P;D	0.63381	0.755;0.914	T	0.20974	-1.0259	10	0.72032	D	0.01	-1.536	5.7082	0.17921	0.0:0.6514:0.1696:0.179	.	878;566	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	W	566;878	ENSP00000353374:G566W;ENSP00000315713:G878W	ENSP00000315713:G878W	G	-	1	0	SSH1	107706411	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.557000	0.23454	0.150000	0.19136	0.655000	0.94253	GGG	.		0.652	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		A	109182282	C	A	109182282	3	1	6	1	0	0	0	0	1	0	0	0	15231	652	23	2	521	2	SSH1	12	109182282	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1084763	109182282	24669613	202	863											
CIT	11113	bcgsc.ca	37	12	120135559	120135559	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:120135559G>T	ENST00000261833.7	-	45	5713	c.5661C>A	c.(5659-5661)tcC>tcA	p.S1887S	RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.S1929S	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1887					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)		CCTGGTATGAGGACGCCAAGT	0.602																																					p.S1929S													.	CIT	535	0			c.C5787A						.						100	104	102					12																	120135559		2203	4300	6503	SO:0001819	synonymous_variant	11113	exon46			GTATGAGGACGCC	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.5661C>A	12.37:g.120135559G>T		43	0		29	4	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114775	0.20795	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.07	1.06	0.20224	.	.	.	.	.	T	0.52025	0.1709	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	6.0161	0.19603	0.35:0.1291:0.5209:0.0	.	.	.	.	H	1500	.	.	P	-	2	0	CIT	118619942	0.999000	0.42202	0.962000	0.40283	0.891000	0.51852	0.550000	0.23345	0.242000	0.21303	0.655000	0.94253	CCT	.		0.602	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120135559	G	T	120135559	2	4	6	1	0	0	0	0	0	0	0	1	3445	987	35	3		3	CIT	12	120135559	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	10953277	120135559	13716336	203	864											
GPR133	283383	hgsc.bcm.edu;bcgsc.ca	37	12	131476787	131476787	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr12:131476787C>A	ENST00000261654.5	+	8	1375	c.816C>A	c.(814-816)ccC>ccA	p.P272P	GPR133_ENST00000535015.1_Silent_p.P304P|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	272					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)		TTCAGATGCCCACAGATGCCT	0.398																																					p.P272P		.											.	.	.	0			c.C816A						.						178	196	190					12																	131476787		2203	4300	6503	SO:0001819	synonymous_variant	283383	exon8			GATGCCCACAGAT	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.816C>A	12.37:g.131476787C>A		58	0		85	4	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1																																																																																			.		0.398	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131476787	C	A	131476787	2	1	6	1	0	0	0	0	0	0	0	1	6669	581	21	3		3	GPR133	12	131476787	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	11341228	131476787	2375108	204	865											
MTUS2	23281	hgsc.bcm.edu	37	13	29933476	29933476	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr13:29933476C>T	ENST00000431530.3	+	6	3071	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	995	Localization to the growing distal tip of microtubules.					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						TGAGGCTGAGCGGCAGCTGGT	0.627																																					p.R1005W		.											MTUS2_ENST00000431530,colon,carcinoma,0,1	MTUS2_ENST00000431530	0	0			c.C3013T						.						13	16	15					13																	29933476		2007	4164	6171	SO:0001583	missense	23281	exon6			GCTGAGCGGCAGC	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.3013C>T	13.37:g.29933476C>T	ENSP00000392057:p.Arg1005Trp	43	0		32	2	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659107	0.67586	.	.	ENSG00000132938	ENST00000431530	T	0.14266	2.52	4.91	1.79	0.24919	.	0.613274	0.14315	N	0.327413	T	0.26810	0.0656	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01121	-1.1445	9	.	.	.	.	11.9536	0.52968	0.4836:0.5164:0.0:0.0	.	995	Q5JR59	MTUS2_HUMAN	W	1005	ENSP00000392057:R1005W	.	R	+	1	2	MTUS2	28831476	0.998000	0.40836	0.999000	0.59377	0.970000	0.65996	0.217000	0.17603	0.593000	0.29745	0.591000	0.81541	CGG	.		0.627	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29933476	C	T	29933476	3	4	6	1	0	0	0	0	1	0	0	0	10004	759	27	1	3035	1	MTUS2	13	29933476	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		29933476	85236402	205	866											
ARHGEF7	8874	hgsc.bcm.edu	37	13	111953840	111953840	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr13:111953840C>A	ENST00000218789.5	+	20	2453	c.1956C>A	c.(1954-1956)acC>acA	p.T652T	ARHGEF7_ENST00000370623.3_Silent_p.T678T|ARHGEF7_ENST00000426073.2_Silent_p.T593T|ARHGEF7_ENST00000375736.4_Silent_p.T593T|ARHGEF7_ENST00000375737.5_Silent_p.T668T			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					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)			TTGTGGATACCGTATATGCAT	0.378																																					p.T593T		.											ARHGEF7_ENST00000375736,NS,carcinoma,0,1	ARHGEF7_ENST00000375736	0	0			c.C1779A						.						295	247	263					13																	111953840		2203	4300	6503	SO:0001819	synonymous_variant	8874	exon19			GGATACCGTATAT	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	ENST00000218789.5:c.1956C>A	13.37:g.111953840C>A		120	0		74	3	NM_003899	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000218789.5	37																																																																																				.		0.378	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	NM_001113511		A	111953840	C	A	111953840	2	1	6	1	0	0	0	0	0	0	0	1	911	639	23	2		2	ARHGEF7	13	111953840	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	82020364	111953840	3216038	206	867											
ATP11A	23250	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	113512205	113512205	+	Missense_Mutation	SNP	G	G	A	rs371031585		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr13:113512205G>A	ENST00000487903.1	+	21	2580	c.2492G>A	c.(2491-2493)aGc>aAc	p.S831N	ATP11A_ENST00000283558.8_Missense_Mutation_p.S831N|ATP11A_ENST00000375630.2_Missense_Mutation_p.S831N|ATP11A_ENST00000375645.3_Missense_Mutation_p.S831N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	831					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)				AATGATGTCAGCATGATTCTG	0.473																																					p.S831N		.											.	.	.	0			c.G2492A						.						178	160	166					13																	113512205		2203	4300	6503	SO:0001583	missense	23250	exon21			ATGTCAGCATGAT	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.2492G>A	13.37:g.113512205G>A	ENSP00000420387:p.Ser831Asn	27	0		29	4	NM_032189	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.313026|5.313026	0.95655|0.95655	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	.|T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15	5.32|5.32	5.32|5.32	0.75619|0.75619	.|HAD-like domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78755|0.78755	0.4333|0.4333	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.89917	.|1.0;0.975;0.937	.|D;D;P	.|0.91635	.|0.999;0.919;0.669	T|T	0.78607|0.78607	-0.2138|-0.2138	5|10	.|0.51188	.|T	.|0.08	.|.	19.3647|19.3647	0.94458|0.94458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|831;831;831	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	T|N	806|831;831;831;831;272	.|ENSP00000420387:S831N;ENSP00000364781:S831N;ENSP00000364796:S831N;ENSP00000283558:S831N	.|ENSP00000283558:S831N	A|S	+|+	1|2	0|0	ATP11A|ATP11A	112560206|112560206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	9.357000|9.357000	0.97099|0.97099	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.473	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113512205	G	A	113512205	3	1	6	1	0	0	0	0	1	0	0	0	1120	971	34	3	2574	3	ATP11A	13	113512205	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1558365	113512205	1657673	207	868											
EAPP	55837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	35005377	35005377	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr14:35005377T>G	ENST00000250454.3	-	2	260	c.179A>C	c.(178-180)gAa>gCa	p.E60A		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	60					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)		CTTTTCAAATTCATCTTCACT	0.373																																					p.E60A		.											.	.	.	0			c.A179C						.						108	97	101					14																	35005377		1834	4091	5925	SO:0001583	missense	55837	exon2			TCAAATTCATCTT	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.179A>C	14.37:g.35005377T>G	ENSP00000250454:p.Glu60Ala	42	0		44	10	NM_018453	Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303961	0.81136	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.53206	0.64;0.63	5.75	4.6	0.57074	.	0.136243	0.64402	D	0.000004	T	0.67757	0.2927	M	0.79475	2.455	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.71066	-0.4700	10	0.72032	D	0.01	-24.8306	11.9355	0.52870	0.0:0.0679:0.0:0.9321	.	60	Q56P03	EAPP_HUMAN	A	60;39	ENSP00000250454:E60A;ENSP00000450908:E39A	ENSP00000250454:E60A	E	-	2	0	EAPP	34075128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	1.117000	0.41842	0.533000	0.62120	GAA	.		0.373	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		G	35005377	T	G	35005377	3	3	6	1	0	0	0	0	1	0	0	0	4891	1783	62	4	698	4	EAPP	14	35005377	Missense_Mutation	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09		35005377	72344163	208	869											
PNN	5411	hgsc.bcm.edu	37	14	39645733	39645733	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr14:39645733G>A	ENST00000216832.4	+	3	255	c.188G>A	c.(187-189)cGt>cAt	p.R63H	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Missense_Mutation_p.R63H|PNN_ENST00000553331.1_Missense_Mutation_p.R63H	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	63	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AATTTCAGGCGTGGATTCTCA	0.373																																					p.R63H		.											.	.	.	0			c.G188A						.						78	79	78					14																	39645733		2203	4300	6503	SO:0001583	missense	5411	exon3			TCAGGCGTGGATT	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.188G>A	14.37:g.39645733G>A	ENSP00000216832:p.Arg63His	84	0		78	3	NM_002687	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249053	0.95305	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	T	0.37235	1.21	5.46	5.46	0.80206	Pinin/SDK (2);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60037	-0.7341	10	0.66056	D	0.02	-7.8952	18.9328	0.92572	0.0:0.0:1.0:0.0	.	63	Q9H307	PININ_HUMAN	H	63	ENSP00000216832:R63H	ENSP00000216832:R63H	R	+	2	0	PNN	38715484	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.582000	0.90791	2.565000	0.86533	0.655000	0.94253	CGT	.		0.373	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		A	39645733	G	A	39645733	3	1	6	1	0	0	0	0	1	0	0	0	12199	1145	40	1	198	1	PNN	14	39645733	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	4640356	39645733	67703807	209	870											
POLE2	5427	bcgsc.ca	37	14	50120901	50120901	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr14:50120901C>A	ENST00000216367.5	-	14	1204	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	POLE2_ENST00000539565.2_Missense_Mutation_p.D343Y|POLE2_ENST00000554396.1_Missense_Mutation_p.D369Y|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	369					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|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)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AATCCAGGATCCTCTGGACCA	0.308																																					p.D369Y													.	POLE2	36	0			c.G1105T						.						47	48	48					14																	50120901		2203	4300	6503	SO:0001583	missense	5427	exon14			CAGGATCCTCTGG	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1105G>T	14.37:g.50120901C>A	ENSP00000216367:p.Asp369Tyr	108	0		76	4	NM_001197331	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514034	0.85389	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.73681	-0.77;-0.77;-0.77	5.62	5.62	0.85841	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.90321	0.6972	H	0.94964	3.605	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	0.92600	0.6090	10	0.87932	D	0	-26.6391	17.8508	0.88747	0.0:1.0:0.0:0.0	.	369;343;369	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	Y	369;343;369	ENSP00000216367:D369Y;ENSP00000446313:D343Y;ENSP00000451621:D369Y	ENSP00000216367:D369Y	D	-	1	0	POLE2	49190651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.886000	0.69743	2.665000	0.90641	0.650000	0.86243	GAT	.		0.308	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		A	50120901	C	A	50120901	3	1	6	1	0	0	0	0	1	0	0	0	12236	855	30	3	502	3	POLE2	14	50120901	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	10475168	50120901	57228639	210	871											
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619480	+	Missense_Mutation	SNP	T	T	C	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr14:53619480T>C	ENST00000323669.5	-	1	336	c.337A>G	c.(337-339)Agc>Ggc	p.S113G	DDHD1_ENST00000395606.1_Missense_Mutation_p.S113G|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.S113G|AL356020.1_ENST00000584587.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	113					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCG	0.701																																					p.S113G		.											.,102	.	202	0			c.A337G						.						6	8	7					14																	53619480		1971	3847	5818	SO:0001583	missense	80821	exon1			AGGAGCTGCCGCC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.337A>G	14.37:g.53619480T>C	ENSP00000327104:p.Ser113Gly	11	0		10	2	NM_001160147	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006520	0.54361	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.77	2.61	0.31194	.	0.746995	0.12231	N	0.487421	T	0.35566	0.0936	N	0.22421	0.69	0.20975	N	0.999816	P;B;P	0.52577	0.954;0.0;0.954	D;B;D	0.66351	0.916;0.0;0.943	T	0.17167	-1.0378	9	0.18276	T	0.48	-5.0646	3.2899	0.06945	0.0:0.2878:0.2128:0.4994	.	113;113;113	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	G	113	.	ENSP00000327104:S113G	S	-	1	0	DDHD1	52689230	.	.	0.767000	0.31495	0.958000	0.62258	.	.	0.510000	0.28216	0.374000	0.22700	AGC	.		0.701	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			C	53619480	T	C	53619480	3	2	6	1	0	0	0	0	1	0	0	0	4335	1580	55	4	2442	4	DDHD1	14	53619480	Missense_Mutation	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	3498579	53619480	53730060	211	872											
TRMT5	145389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	61446086	61446086	+	5'Flank	SNP	T	T	C			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr14:61446086T>C	ENST00000267488.4	+	0	0				RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000456840.2_5'Flank|SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.Y177C	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)		AAAGTGTTCATATGTTAGTTC	0.368																																					p.Y177C		.											.	.	.	0			c.A530G						.						111	110	110					14																	61446086		2203	4300	6503	SO:0001631	upstream_gene_variant	57570	exon2			TGTTCATATGTTA	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.61446086T>C	Exception_encountered	84	0		43	7	NM_020810	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070849	0.76301	.	.	ENSG00000126814	ENST00000261249	T	0.48522	0.81	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76247	-0.3029	10	0.87932	D	0	-17.5222	14.3319	0.66564	0.0:0.0:0.0:1.0	.	177	Q32P41	TRM5_HUMAN	C	177	ENSP00000261249:Y177C	ENSP00000261249:Y177C	Y	-	2	0	TRMT5	60515839	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.479000	0.81095	2.014000	0.59158	0.533000	0.62120	TAT	.		0.368	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			C	61446086	T	C	61446086	1	2	6	0	1	0	0	0	0	0	0	0	16615	1406	49	4		4	TRMT5	14	61446086	5'Flank	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	7826606	61446086	45903454	212	873											
SEL1L	6400	hgsc.bcm.edu;bcgsc.ca	37	14	81946075	81946075	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr14:81946075G>T	ENST00000336735.4	-	20	2172	c.2056C>A	c.(2056-2058)Ctt>Att	p.L686I		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	686	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)		CGTTTCGCAAGGTGAATATCC	0.368																																					p.L686I		.											.	.	.	0			c.C2056A						.						72	73	73					14																	81946075		2203	4300	6503	SO:0001583	missense	6400	exon20			TCGCAAGGTGAAT		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.2056C>A	14.37:g.81946075G>T	ENSP00000337053:p.Leu686Ile	71	0		55	5	NM_005065	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662571	0.88251	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.55588	0.51	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69989	-0.4995	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	686	Q9UBV2	SE1L1_HUMAN	I	686;47	ENSP00000337053:L686I	ENSP00000261258:L47I	L	-	1	0	SEL1L	81015828	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.115000	0.71566	2.873000	0.98535	0.563000	0.77884	CTT	.		0.368	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		T	81946075	G	T	81946075	3	4	6	1	0	0	0	0	1	0	0	0	14055	1000	35	3	336	3	SEL1L	14	81946075	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	20499989	81946075	25403465	213	874											
HERC2	8924	bcgsc.ca	37	15	28375649	28375649	+	Splice_Site	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:28375649C>A	ENST00000261609.7	-	82	12770	c.12662G>T	c.(12661-12663)tGg>tTg	p.W4221L		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)		TCTTGCGTACCAGGTATAAAC	0.438																																					p.W4221L													.	HERC2	501	0			c.G12662T						.						182	196	192					15																	28375649		2203	4300	6503	SO:0001630	splice_region_variant	8924	exon82			GCGTACCAGGTAT	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.12662+1G>T	15.37:g.28375649C>A		36	0		44	4	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448036	0.84101	.	.	ENSG00000128731	ENST00000261609	D	0.92199	-2.99	5.03	5.03	0.67393	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	9	.	.	.	.	18.3543	0.90352	0.0:1.0:0.0:0.0	.	4221	O95714	HERC2_HUMAN	L	4221	ENSP00000261609:W4221L	.	W	-	2	0	HERC2	26049244	1.000000	0.71417	0.999000	0.59377	0.564000	0.35744	7.788000	0.85771	2.310000	0.77875	0.561000	0.74099	TGG	.		0.438	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Missense_Mutation	A	28375649	C	A	28375649	5	1	6	1	0	0	0	0	0	0	1	0	7085	608	21	3	1890	3	HERC2	15	28375649	Splice_Site	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		28375649	74155743	214	875											
HERC2	8924	hgsc.bcm.edu;bcgsc.ca	37	15	28492030	28492030	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:28492030C>A	ENST00000261609.7	-	22	3357	c.3249G>T	c.(3247-3249)atG>atT	p.M1083I		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)		AACCAACACCCATTAGCTCTG	0.448																																					p.M1083I		.											.	.	.	0			c.G3249T						.						89	76	80					15																	28492030		2203	4300	6503	SO:0001583	missense	8924	exon22			AACACCCATTAGC	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.3249G>T	15.37:g.28492030C>A	ENSP00000261609:p.Met1083Ile	83	0		100	4	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	2.651	-0.281947	0.05642	.	.	ENSG00000128731	ENST00000261609	T	0.37058	1.22	5.43	4.41	0.53225	.	0.057111	0.64402	D	0.000001	T	0.15219	0.0367	N	0.08118	0	0.30689	N	0.751491	B	0.10296	0.003	B	0.09377	0.004	T	0.14727	-1.0462	10	0.13470	T	0.59	.	6.1893	0.20516	0.0:0.6915:0.0:0.3085	.	1083	O95714	HERC2_HUMAN	I	1083	ENSP00000261609:M1083I	ENSP00000261609:M1083I	M	-	3	0	HERC2	26165625	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	1.620000	0.36976	2.546000	0.85860	0.650000	0.86243	ATG	.		0.448	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28492030	C	A	28492030	3	1	6	1	0	0	0	0	1	0	0	0	7085	594	21	3	11543	3	HERC2	15	28492030	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	116381	28492030	74039362	215	876											
GREM1	26585	hgsc.bcm.edu;broad.mit.edu	37	15	33023106	33023106	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:33023106A>G	ENST00000300177.4	+	2	404	c.215A>G	c.(214-216)gAg>gGg	p.E72G	GREM1_ENST00000322805.4_Intron|GREM1_ENST00000560830.1_Intron|GREM1_ENST00000560677.1_Intron	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	72					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|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)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		CCCGGGGAGGAGGTGCTGGAG	0.652																																					p.E72G		.											.	.	.	0			c.A215G						.						29	32	31					15																	33023106		2201	4300	6501	SO:0001583	missense	26585	exon2			GGGAGGAGGTGCT		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"cysteine knot superfamily 1, BMP antagonist 1", "gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 1", "colorectal adenoma and carcinoma 1"	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.215A>G	15.37:g.33023106A>G	ENSP00000300177:p.Glu72Gly	9	0		11	5	NM_013372	Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	37	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	A	32	5.158590	0.94686	.	.	ENSG00000166923	ENST00000300177	T	0.31769	1.48	5.57	5.57	0.84162	DAN (1);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.76838	2.35	0.80722	D	1	D	0.55800	0.973	P	0.61201	0.885	T	0.59794	-0.7387	10	0.66056	D	0.02	-15.9253	15.74	0.77887	1.0:0.0:0.0:0.0	.	72	O60565	GREM1_HUMAN	G	72	ENSP00000300177:E72G	ENSP00000300177:E72G	E	+	2	0	GREM1	30810398	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.530000	0.81962	2.133000	0.65898	0.533000	0.62120	GAG	.		0.652	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		G	33023106	A	G	33023106	3	3	6	1	0	0	0	0	1	0	0	0	6788	304	11	4	217	4	GREM1	15	33023106	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	4531076	33023106	69508286	216	877											
IVD	3712	hgsc.bcm.edu;bcgsc.ca	37	15	40702955	40702955	+	Missense_Mutation	SNP	C	C	T	rs376324882		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:40702955C>T	ENST00000249760.2	+	4	758	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	IVD_ENST00000487418.2_Missense_Mutation_p.R142C|IVD_ENST00000479013.2_Missense_Mutation_p.R112C|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	139					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)	CCAGCTTGTACGCAATGGGAA	0.512																																					p.R142C	GBM(31;293 617 7486 32527 34655)	.											.	.	.	0			c.C424T						.						68	56	60					15																	40702955		2203	4300	6503	SO:0001583	missense	3712	exon4			CTTGTACGCAATG	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.415C>T	15.37:g.40702955C>T	ENSP00000249760:p.Arg139Cys	46	0		56	4	NM_002225	B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.698007	0.88830	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.99755	-6.64;-6.64;-6.64	5.17	5.17	0.71159	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.098170	0.64402	D	0.000001	D	0.99837	0.9926	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.96838	0.9616	10	0.87932	D	0	.	14.5737	0.68229	0.1465:0.8535:0.0:0.0	.	139;112	P26440;B3KVI7	IVD_HUMAN;.	C	139;112;142	ENSP00000249760:R139C;ENSP00000417990:R112C;ENSP00000418397:R142C	ENSP00000249760:R139C	R	+	1	0	IVD	38490247	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.803000	0.69129	2.691000	0.91804	0.655000	0.94253	CGC	.		0.512	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	40702955	C	T	40702955	3	4	6	1	0	0	0	0	1	0	0	0	7955	536	19	1	438	1	IVD	15	40702955	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	7679849	40702955	61828437	217	878											
MGA	23269	hgsc.bcm.edu	37	15	42028642	42028642	+	Missense_Mutation	SNP	C	C	A	rs367727094		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:42028642C>A	ENST00000570161.1	+	12	4180	c.4180C>A	c.(4180-4182)Cgt>Agt	p.R1394S	MGA_ENST00000545763.1_Missense_Mutation_p.R1394S|MGA_ENST00000566586.1_Missense_Mutation_p.R1394S|MGA_ENST00000219905.7_Missense_Mutation_p.R1394S|MGA_ENST00000389936.4_Missense_Mutation_p.R1394S			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)	TTATTCTTCTCGTGTGAAAAT	0.468																																					p.R1394S		.											MGA,NS,carcinoma,0,1	MGA	0	0			c.C4180A						.						69	67	67					15																	42028642		1881	4115	5996	SO:0001583	missense	23269	exon13			TCTTCTCGTGTGA	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.4180C>A	15.37:g.42028642C>A	ENSP00000457035:p.Arg1394Ser	47	0		43	3	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773531	0.69992	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;D	0.86497	2.44;2.44;-2.13	5.82	5.82	0.92795	.	0.709020	0.12124	N	0.497423	D	0.89259	0.6664	N	0.24115	0.695	0.33246	D	0.557887	D;D	0.89917	0.998;1.0	D;D	0.81914	0.994;0.995	D	0.89503	0.3765	10	0.87932	D	0	.	13.9907	0.64364	0.252:0.748:0.0:0.0	.	1394;1394	F5H7K2;E7ENI0	.;.	S	1394	ENSP00000219905:R1394S;ENSP00000374586:R1394S;ENSP00000442467:R1394S	ENSP00000219905:R1394S	R	+	1	0	MGA	39815934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	2.757000	0.94681	0.585000	0.79938	CGT	.		0.468	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		A	42028642	C	A	42028642	3	1	6	1	0	0	0	0	1	0	0	0	9578	884	31	2	4226	2	MGA	15	42028642	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1325687	42028642	60502750	218	879											
EIF3J	8669	hgsc.bcm.edu	37	15	44849831	44849831	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:44849831G>T	ENST00000261868.5	+	6	692	c.554G>T	c.(553-555)cGa>cTa	p.R185L	RP11-151N17.1_ENST00000558006.1_RNA|EIF3J_ENST00000424492.3_Missense_Mutation_p.R136L|EIF3J_ENST00000535391.1_Intron	NM_003758.2	NP_003749.2			eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GTCTTAGTTCGAGATGTGTGT	0.313																																					p.R185L		.											.	.	.	0			c.G554T						.						59	66	63					15																	44849831		2198	4295	6493	SO:0001583	missense	8669	exon6			TAGTTCGAGATGT	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000261868.5:c.554G>T	15.37:g.44849831G>T	ENSP00000261868:p.Arg185Leu	49	0		77	3	NM_003758		Missense_Mutation	SNP	ENST00000261868.5	37	CCDS10111.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152867	0.94645	.	.	ENSG00000104131	ENST00000261868;ENST00000424492	T;T	0.56611	0.45;0.45	5.77	5.77	0.91146	Eukaryotic translation initiation factor 3-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.957;0.982	T	0.73956	-0.3819	10	0.87932	D	0	.	19.9835	0.97338	0.0:0.0:1.0:0.0	.	136;185	F5H425;O75822	.;EIF3J_HUMAN	L	185;136	ENSP00000261868:R185L;ENSP00000414548:R136L	ENSP00000261868:R185L	R	+	2	0	EIF3J	42637123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.726000	0.93360	0.655000	0.94253	CGA	.		0.313	EIF3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253850.1	NM_003758		T	44849831	G	T	44849831	3	4	6	1	0	0	0	0	1	0	0	0	5036	1058	37	2	576	2	EIF3J	15	44849831	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	2821189	44849831	57681561	219	880											
DUOX2	50506	hgsc.bcm.edu	37	15	45394116	45394116	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:45394116C>A	ENST00000603300.1	-	21	2928	c.2726G>T	c.(2725-2727)cGg>cTg	p.R909L	DUOX2_ENST00000389039.6_Missense_Mutation_p.R909L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	909	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)	p.R909Q(1)		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)		TCCCGACTCCCGGAACATAGA	0.582																																					p.R909L		.											DUOX2,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	DUOX2	0	1	Substitution - Missense(1)	central_nervous_system(1)	c.G2726T						.						99	84	89					15																	45394116		2198	4298	6496	SO:0001583	missense	50506	exon21			GACTCCCGGAACA	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.2726G>T	15.37:g.45394116C>A	ENSP00000475084:p.Arg909Leu	51	0		42	2	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583437	0.46006	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	3.96	0.45880	EF-hand-like domain (1);	0.499217	0.23468	N	0.047850	T	0.43809	0.1264	L	0.34521	1.04	0.36451	D	0.866073	B;B	0.18610	0.002;0.029	B;B	0.17098	0.002;0.017	T	0.45056	-0.9287	9	0.52906	T	0.07	-17.3591	7.5862	0.27993	0.0:0.6766:0.0:0.3234	.	909;471	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	909	.	ENSP00000373691:R909L	R	-	2	0	DUOX2	43181408	0.968000	0.33430	1.000000	0.80357	0.996000	0.88848	0.225000	0.17757	0.821000	0.34540	0.655000	0.94253	CGG	.		0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45394116	C	A	45394116	3	1	6	1	0	0	0	0	1	0	0	0	4815	652	23	2	1976	2	DUOX2	15	45394116	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	544285	45394116	57137276	220	881											
TMOD2	29767	bcgsc.ca	37	15	52060462	52060462	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:52060462G>T	ENST00000249700.4	+	3	351	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.A44S	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	44					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TTGTCAGAGTGCCATGCTGCC	0.567																																					p.A44S													.	TMOD2	36	0			c.G130T						.						50	47	48					15																	52060462		2195	4293	6488	SO:0001583	missense	29767	exon3			CAGAGTGCCATGC	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.130G>T	15.37:g.52060462G>T	ENSP00000249700:p.Ala44Ser	42	0		48	4	NM_014548	B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497613	0.64186	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.30714	1.52;1.52	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	L	0.35542	1.07	0.58432	D	0.999992	D;D	0.89917	0.984;1.0	D;D	0.91635	0.916;0.999	T	0.06698	-1.0812	10	0.06757	T	0.87	-18.4717	20.3931	0.98965	0.0:0.0:1.0:0.0	.	44;44	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	S	44	ENSP00000404590:A44S;ENSP00000249700:A44S	ENSP00000249700:A44S	A	+	1	0	TMOD2	49847754	1.000000	0.71417	0.922000	0.36590	0.532000	0.34746	7.986000	0.88173	2.824000	0.97209	0.655000	0.94253	GCC	.		0.567	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			T	52060462	G	T	52060462	3	4	6	1	0	0	0	0	1	0	0	0	16281	1319	46	3	136	3	TMOD2	15	52060462	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	6666346	52060462	50470930	221	882											
CILP	8483	hgsc.bcm.edu	37	15	65489606	65489606	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:65489606C>A	ENST00000261883.4	-	9	3184	c.3018G>T	c.(3016-3018)ctG>ctT	p.L1006L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1006					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						ACTTGAACTCCAGACAGGCAG	0.607																																					p.L1006L		.											.	.	.	0			c.G3018T						.						81	63	69					15																	65489606		2202	4299	6501	SO:0001819	synonymous_variant	8483	exon9			GAACTCCAGACAG	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.3018G>T	15.37:g.65489606C>A		17	0		25	4	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	CCDS10203.1																																																																																			.		0.607	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		A	65489606	C	A	65489606	2	1	6	1	0	0	0	0	0	0	0	1	3436	581	21	3		3	CILP	15	65489606	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	13429144	65489606	37041786	222	883											
DENND4A	10260	hgsc.bcm.edu	37	15	65983620	65983620	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:65983620C>A	ENST00000431932.2	-	22	3388	c.3180G>T	c.(3178-3180)ttG>ttT	p.L1060F	DENND4A_ENST00000567323.1_5'Flank|DENND4A_ENST00000443035.3_Missense_Mutation_p.L1103F	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1060					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						CATCAGCTCCCAATTTTTCAA	0.388																																					p.L1103F		.											.	.	.	0			c.G3309T						.						49	45	46					15																	65983620		1810	4063	5873	SO:0001583	missense	10260	exon23			AGCTCCCAATTTT	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.3180G>T	15.37:g.65983620C>A	ENSP00000396830:p.Leu1060Phe	38	0		35	4	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584032	0.46110	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.09445	3.07;2.98	5.33	-0.00268	0.14028	.	0.481200	0.17793	N	0.161825	T	0.15825	0.0381	L	0.44542	1.39	0.44976	D	0.997997	D;D	0.76494	0.997;0.999	D;D	0.66716	0.916;0.946	T	0.28073	-1.0055	10	0.62326	D	0.03	.	1.0519	0.01582	0.2345:0.3125:0.1202:0.3328	.	1103;1060	E7EPL3;Q7Z401	.;MYCPP_HUMAN	F	1103;1060	ENSP00000391167:L1103F;ENSP00000396830:L1060F	ENSP00000396830:L1060F	L	-	3	2	DENND4A	63770674	0.906000	0.30813	0.993000	0.49108	0.737000	0.42083	-0.115000	0.10741	0.034000	0.15491	-0.253000	0.11424	TTG	.		0.388	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		A	65983620	C	A	65983620	3	1	6	1	0	0	0	0	1	0	0	0	4447	593	21	3	2455	3	DENND4A	15	65983620	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	494014	65983620	36547772	223	884											
NOX5	79400	hgsc.bcm.edu	37	15	69325389	69325389	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:69325389C>A	ENST00000388866.3	+	5	668	c.627C>A	c.(625-627)gcC>gcA	p.A209A	NOX5_ENST00000260364.5_Silent_p.A191A|NOX5_ENST00000530406.2_Silent_p.A181A|NOX5_ENST00000455873.3_Silent_p.A174A|NOX5_ENST00000448182.3_Silent_p.A163A	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	209					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						GCAGCGCTGCCCACTGGCTGA	0.711																																					p.A209A		.											NOX5,NS,carcinoma,0,1	NOX5	0	0			c.C627A						.						17	21	20					15																	69325389		1304	3023	4327	SO:0001819	synonymous_variant	79400	exon5			CGCTGCCCACTGG	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.627C>A	15.37:g.69325389C>A		28	0		33	2	NM_024505	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																			.		0.711	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		A	69325389	C	A	69325389	2	1	6	1	0	0	0	0	0	0	0	1	10598	610	22	3		3	NOX5	15	69325389	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	3341769	69325389	33206003	224	885											
FURIN	5045	hgsc.bcm.edu;bcgsc.ca	37	15	91421361	91421361	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:91421361G>T	ENST00000268171.3	+	8	946		c.e8-1			NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)						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)			TTCACGGCCAGGGGTGCGCAT	0.672																																					.		.											.	.	.	0			c.668-1G>T						.						49	49	49					15																	91421361		2198	4298	6496	SO:0001630	splice_region_variant	5045	exon8			CGGCCAGGGGTGC	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.668-1G>T	15.37:g.91421361G>T		71	0		62	4	NM_002569	Q14336|Q6LBS3|Q9UCZ5	Splice_Site	SNP	ENST00000268171.3	37	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532441	0.64972	.	.	ENSG00000140564	ENST00000268171	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3345	0.87276	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FURIN	89222365	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.168000	0.94781	2.313000	0.78055	0.456000	0.33151	.	.		0.672	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569	Intron	T	91421361	G	T	91421361	5	4	6	1	0	0	0	0	0	0	1	0	6123	1014	35	3	693	3	FURIN	15	91421361	Splice_Site	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	22095972	91421361	11110031	225	886											
LYSMD4	145748	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	100272030	100272030	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr15:100272030C>T	ENST00000409796.1	-	2	237	c.175G>A	c.(175-177)Ggt>Agt	p.G59S	LYSMD4_ENST00000344791.2_Silent_p.A29A|LYSMD4_ENST00000332728.4_Missense_Mutation_p.G59S|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_5'UTR	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	59						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)			TGGTGGACACCGCTCTTGTGG	0.627																																					p.A29A													.	LYSMD4	21	0			c.G87A						.						38	39	39					15																	100272030		2203	4300	6503	SO:0001583	missense	145748	exon3			GGACACCGCTCTT	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.175G>A	15.37:g.100272030C>T	ENSP00000386283:p.Gly59Ser	99	1		74	19	NM_152449	A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37		.	.	.	.	.	.	.	.	.	.	C	0.012	-1.656109	0.00779	.	.	ENSG00000183060	ENST00000409796;ENST00000332728	T;T	0.17528	2.27;2.27	4.92	-0.608	0.11611	.	.	.	.	.	T	0.05273	0.0140	.	.	.	0.18873	N	0.999984	B	0.19706	0.038	B	0.12837	0.008	T	0.40979	-0.9534	8	0.02654	T	1	-5.4007	5.4922	0.16783	0.1449:0.3689:0.0:0.4862	.	59	Q5XG99	LYSM4_HUMAN	S	59	ENSP00000386283:G59S;ENSP00000333008:G59S	ENSP00000333008:G59S	G	-	1	0	LYSMD4	98089553	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.319000	0.19522	-0.161000	0.10983	0.655000	0.94253	GGT	.		0.627	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		T	100272030	C	T	100272030	3	4	6	1	0	0	0	0	1	0	0	0	9163	639	23	1	822	1	LYSMD4	15	100272030	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	8850669	100272030	2259362	226	887											
PPL	5493	broad.mit.edu	37	16	4945406	4945406	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr16:4945406G>T	ENST00000345988.2	-	11	1187	c.1098C>A	c.(1096-1098)gaC>gaA	p.D366E	PPL_ENST00000590782.2_Missense_Mutation_p.D364E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	366					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						CCTTCTCCTGGTCCTGGAGAG	0.652																																					p.D366E													.	PPL	168	0			c.C1098A						.						38	37	38					16																	4945406		2197	4300	6497	SO:0001583	missense	5493	exon11			CTCCTGGTCCTGG	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.1098C>A	16.37:g.4945406G>T	ENSP00000340510:p.Asp366Glu	51	0		44	3	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938091	0.52972	.	.	ENSG00000118898	ENST00000345988	D	0.94576	-3.46	4.57	2.36	0.29203	.	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	L	0.35542	1.07	0.36575	D	0.873205	D	0.76494	0.999	D	0.78314	0.991	D	0.90922	0.4784	10	0.13853	T	0.58	.	10.0759	0.42360	0.0841:0.2616:0.6543:0.0	.	366	O60437	PEPL_HUMAN	E	366	ENSP00000340510:D366E	ENSP00000340510:D366E	D	-	3	2	PPL	4885407	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.475000	0.35409	1.083000	0.41159	0.561000	0.74099	GAC	.		0.652	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4945406	G	T	4945406	3	4	6	1	0	0	0	0	1	0	0	0	12376	1252	44	3	4220	3	PPL	16	4945406	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		4945406	85409347	227	888											
CIITA	4261	bcgsc.ca	37	16	11001930	11001930	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr16:11001930C>A	ENST00000324288.8	+	11	2714	c.2581C>A	c.(2581-2583)Ctg>Atg	p.L861M	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	861					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						AGACTTCTCCCTGGACCTCCG	0.652			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																p.L861M				Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	.	CIITA	92	0			c.C2581A						.						14	16	15					16																	11001930		2197	4292	6489	SO:0001583	missense	4261	exon11			TTCTCCCTGGACC	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.2581C>A	16.37:g.11001930C>A	ENSP00000316328:p.Leu861Met	36	0		34	4	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699118	0.48307	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.79033	-1.23	4.86	3.89	0.44902	.	0.000000	0.51477	D	0.000093	D	0.84302	0.5442	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.991;0.998;0.998	T	0.83221	-0.0068	10	0.59425	D	0.04	.	6.4223	0.21750	0.0:0.7032:0.0:0.2968	.	861;861;813;861	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	M	861;813	ENSP00000316328:L861M	ENSP00000316328:L861M	L	+	1	2	CIITA	10909431	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	1.560000	0.36331	0.989000	0.38761	0.655000	0.94253	CTG	.		0.652	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		A	11001930	C	A	11001930	3	1	6	1	0	0	0	0	1	0	0	0	3435	680	24	3	2623	3	CIITA	16	11001930	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	6056524	11001930	79352823	228	889											
PRM3	5620	hgsc.bcm.edu	37	16	11367212	11367212	+	IGR	SNP	G	G	T	rs376400498		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr16:11367212G>T	ENST00000241808.4	-	0	680				RMI2_ENST00000572173.1_Intron|PRM3_ENST00000327157.2_Silent_p.R81R|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2						cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TCCTCCTGCCGCTCAGGCTCC	0.677																																					p.R81R		.											PRM3,colon,carcinoma,0,1	PRM3	0	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.C241A						.						16	26	22					16																	11367212		1990	3917	5907	SO:0001628	intergenic_variant	58531	exon1			CCTGCCGCTCAGG		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 2"	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317		16.37:g.11367212G>T		31	0		24	2	NM_021247	Q6ZMM0	Silent	SNP	ENST00000241808.4	37	CCDS42118.1																																																																																			.		0.677	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			T	11367212	G	T	11367212	1	4	6	0	1	0	0	0	0	0	0	0	12576	1086	38	2		2	PRM3	16	11367212	IGR	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	365282	11367212	78987541	229	890											
ACSM5	54988	hgsc.bcm.edu	37	16	20448431	20448431	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr16:20448431C>A	ENST00000331849.4	+	11	1513	c.1366C>A	c.(1366-1368)Cga>Aga	p.R456R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					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.R456R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CACAGGGGACCGAGCTCGCAT	0.488																																					p.R456R		.											ACSM5,NS,carcinoma,0,1	ACSM5	0	1	Substitution - coding silent(1)	lung(1)	c.C1366A						.						167	155	159					16																	20448431		2203	4300	6503	SO:0001819	synonymous_variant	54988	exon11			GGGGACCGAGCTC		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.1366C>A	16.37:g.20448431C>A		52	0		51	3	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	CCDS10585.1																																																																																			.		0.488	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		A	20448431	C	A	20448431	2	1	6	1	0	0	0	0	0	0	0	1	187	644	23	2		2	ACSM5	16	20448431	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	9081219	20448431	69906322	230	891											
COG7	91949	broad.mit.edu	37	16	23415150	23415150	+	Silent	SNP	T	T	C			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr16:23415150T>C	ENST00000307149.5	-	13	1853	c.1668A>G	c.(1666-1668)aaA>aaG	p.K556K		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	556					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)		TGCTTGACCCTTTTTCCTAAG	0.507																																					p.K556K													.	COG7	62	0			c.A1668G						.						69	59	63					16																	23415150		2197	4300	6497	SO:0001819	synonymous_variant	91949	exon13			TGACCCTTTTTCC	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.1668A>G	16.37:g.23415150T>C		79	0		70	3	NM_153603	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																			.		0.507	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			C	23415150	T	C	23415150	2	2	6	1	0	0	0	0	0	0	0	1	3670	1606	56	4		4	COG7	16	23415150	Silent	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09	2966719	23415150	66939603	231	892											
SEPT1	1731	hgsc.bcm.edu	37	16	30392754	30392754	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr16:30392754G>T	ENST00000571393.1	-	6	532	c.346C>A	c.(346-348)Cag>Aag	p.Q116K	SEPT1_ENST00000605106.1_Missense_Mutation_p.Q121K|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000321367.3_Missense_Mutation_p.Q163K			Q8WYJ6	SEPT1_HUMAN	septin 1	116	Septin-type G.				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)			CTAAGGTACTGCTCAAATTGC	0.587																																					p.Q163K		.											SEPT1,NS,carcinoma,0,1	SEPT1	0	0			c.C487A						.						107	100	102					16																	30392754		2197	4300	6497	SO:0001583	missense	1731	exon6			GGTACTGCTCAAA	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.346C>A	16.37:g.30392754G>T	ENSP00000460441:p.Gln116Lys	61	0		65	3	NM_052838	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37		.	.	.	.	.	.	.	.	.	.	G	11.28	1.592662	0.28357	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000030	T	0.49474	0.1559	N	0.16307	0.4	0.48395	D	0.999645	B;B	0.32467	0.226;0.372	B;B	0.37692	0.241;0.256	T	0.53394	-0.8445	9	0.62326	D	0.03	.	18.6084	0.91275	0.0:0.0:1.0:0.0	.	163;116	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	K	116	.	ENSP00000324511:Q116K	Q	-	1	0	SEPT1	30300255	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	8.004000	0.88535	2.772000	0.95346	0.591000	0.81541	CAG	.		0.587	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		T	30392754	G	T	30392754	3	4	6	1	0	0	0	0	1	0	0	0	14104	1328	46	3	785	3	SEPT1	16	30392754	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	6977604	30392754	59961999	232	893											
USP6	9098	bcgsc.ca	37	17	5040990	5040990	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:5040990G>T	ENST00000574788.1	+	20	3100	c.870G>T	c.(868-870)gtG>gtT	p.V290V	USP6_ENST00000250066.6_Silent_p.V290V|USP6_ENST00000332776.4_Silent_p.V290V|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	290	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						TGTATTTGGTGGAAGGAGAAC	0.582			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																p.V290V				Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	USP6	213	0			c.G870T						.						246	225	232					17																	5040990		2203	4300	6503	SO:0001819	synonymous_variant	9098	exon12			TTTGGTGGAAGGA	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.870G>T	17.37:g.5040990G>T		75	0		54	4	NM_004505	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																			.		0.582	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		T	5040990	G	T	5040990	2	4	6	1	0	0	0	0	0	0	0	1	17135	1335	47	3		3	USP6	17	5040990	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		5040990	76154220	233	894											
NCOR1	9611	hgsc.bcm.edu	37	17	16040656	16040656	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:16040656C>A	ENST00000268712.3	-	14	1735	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	NCOR1_ENST00000395851.1_Missense_Mutation_p.R493M|NCOR1_ENST00000395848.1_Missense_Mutation_p.R384M|RNU6-862P_ENST00000362804.1_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	493					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)		CCCATAATTCCTTCTGACGAG	0.343																																					p.R493M		.											.	.	.	0			c.G1478T						.						72	68	69					17																	16040656		2203	4300	6503	SO:0001583	missense	9611	exon13			TAATTCCTTCTGA	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.1478G>T	17.37:g.16040656C>A	ENSP00000268712:p.Arg493Met	48	0		46	4	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078434	0.36662	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.999;0.999;0.979;0.997;0.874	D;D;D;D;D;P	0.80764	0.971;0.971;0.971;0.94;0.994;0.73	T	0.75491	-0.3299	10	0.87932	D	0	-10.0101	14.9712	0.71235	0.0:0.8565:0.1435:0.0	.	502;493;493;384;493;493	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	M	493;493;384;502;384;493;502	ENSP00000268712:R493M;ENSP00000379192:R493M;ENSP00000379189:R384M;ENSP00000407998:R493M;ENSP00000387727:R502M	ENSP00000268712:R493M	R	-	2	0	NCOR1	15981381	1.000000	0.71417	0.963000	0.40424	0.978000	0.69477	7.403000	0.79983	1.284000	0.44531	0.655000	0.94253	AGG	.		0.343	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	16040656	C	A	16040656	3	1	6	1	0	0	0	0	1	0	0	0	10274	681	24	3	5976	3	NCOR1	17	16040656	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	10999666	16040656	65154554	234	895											
TADA2A	6871	hgsc.bcm.edu	37	17	35827572	35827572	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:35827572C>A	ENST00000394395.2	+	12	1011	c.838C>A	c.(838-840)Cga>Aga	p.R280R	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.R280R	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	280					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						ATTTGAACTCCGAAGGGAAAT	0.378																																					p.R280R		.											TADA2A_ENST00000394395,NS,carcinoma,0,2	TADA2A_ENST00000394395	0	0			c.C838A						.						100	89	93					17																	35827572		2203	4300	6503	SO:0001819	synonymous_variant	6871	exon12			GAACTCCGAAGGG	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.838C>A	17.37:g.35827572C>A		46	0		41	3	NM_001488	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	CCDS11319.1																																																																																			.		0.378	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		A	35827572	C	A	35827572	2	1	6	1	0	0	0	0	0	0	0	1	15557	644	23	2		2	TADA2A	17	35827572	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	19786916	35827572	45367638	235	896											
GPR179	440435	broad.mit.edu;ucsc.edu	37	17	36489224	36489224	+	Silent	SNP	G	G	A	rs372049950		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:36489224G>A	ENST00000342292.4	-	10	1967	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	649					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)				GGTCCAGCTCGTCCTCACACA	0.622																																					p.D649D													.	GPR179	170	0			c.C1947T						.	G		0,4372		0,0,2186	61	70	67		1947	-10.4	0.2	17		67	1,8573		0,1,4286	no	coding-synonymous	GPR179	NM_001004334.2		0,1,6472	AA,AG,GG		0.0117,0.0,0.0077		649/2368	36489224	1,12945	2186	4287	6473	SO:0001819	synonymous_variant	440435	exon10			CAGCTCGTCCTCA		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.1947C>T	17.37:g.36489224G>A		13	0		18	6	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			.		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36489224	G	A	36489224	2	1	6	1	0	0	0	0	0	0	0	1	6700	1136	40	1		1	GPR179	17	36489224	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	661652	36489224	44705986	236	897											
ERBB2	2064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	37880219	37880220	+	Missense_Mutation	DNP	TT	TT	CC	rs121913470|rs121913469		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	TT	TT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:37880219_37880220TT>CC	ENST00000269571.5	+	19	2422_2423	c.2263_2264TT>CC	c.(2263-2265)TTg>CCg	p.L755P	ERBB2_ENST00000584601.1_Missense_Mutation_p.L725P|ERBB2_ENST00000540147.1_Missense_Mutation_p.L725P|ERBB2_ENST00000541774.1_Missense_Mutation_p.L740P|ERBB2_ENST00000584450.1_Missense_Mutation_p.L755P|ERBB2_ENST00000406381.2_Missense_Mutation_p.L725P|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000445658.2_Missense_Mutation_p.L479P			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> P (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:15457249}.		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)	p.L755S(10)|p.L755P(2)|p.L755_S760>A(1)		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)	CATCAAAGTGTTGAGGGAAAAC	0.53	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																											p.L755P		.		Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	ERBB2,NS,carcinoma,0,20	ERBB2	0	13	Substitution - Missense(12)|Complex - insertion inframe(1)	breast(7)|lung(3)|stomach(2)|large_intestine(1)	c.T2264C						.																																			SO:0001583	missense	2064	exon19			AAGTGTTGAGGGA	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		Exception_encountered	17.37:g.37880219_37880220delinsCC	ENSP00000269571:p.Leu755Pro	26	0		24	10	NM_004448	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	DNP	ENST00000269571.5	37	CCDS32642.1																																																																																			.		0.53	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			CC	37880220	TT	CC	37880219	3	2	6	1	0	0	0	0	1	0	0	0	5222	1722	60	4	2337	4	ERBB2	17	37880219	Missense_Mutation	DNP	TT	TCGA-4G-AAZO-01A-12D-A417-09	1390995	37880219	43314991	237	898											
JUP	3728	bcgsc.ca	37	17	39912069	39912069	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:39912069C>A	ENST00000393931.3	-	14	2283	c.2165G>T	c.(2164-2166)gGa>gTa	p.G722V	JUP_ENST00000310706.5_Missense_Mutation_p.G722V|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.G722V	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	722					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGGGTAGTCTCCATCCATGTC	0.642																																					p.G722V	Colon(16;42 520 6044 17852 28530)												.	JUP	64	0			c.G2165T						.						95	85	89					17																	39912069		2203	4300	6503	SO:0001583	missense	3728	exon14			TAGTCTCCATCCA	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2165G>T	17.37:g.39912069C>A	ENSP00000377508:p.Gly722Val	22	0		19	4	NM_021991	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884216	0.33255	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.61392	0.11;0.11;0.11	4.84	3.85	0.44370	.	0.499734	0.21105	N	0.080097	T	0.49287	0.1548	L	0.50333	1.59	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48340	-0.9044	10	0.51188	T	0.08	-28.8205	9.1582	0.37005	0.166:0.6736:0.1604:0.0	.	722	P14923	PLAK_HUMAN	V	722	ENSP00000377507:G722V;ENSP00000311113:G722V;ENSP00000377508:G722V	ENSP00000311113:G722V	G	-	2	0	JUP	37165595	0.093000	0.21703	0.435000	0.26784	0.965000	0.64279	1.655000	0.37345	1.221000	0.43506	0.655000	0.94253	GGA	.		0.642	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			A	39912069	C	A	39912069	3	1	6	1	0	0	0	0	1	0	0	0	7999	855	30	3	76	3	JUP	17	39912069	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2031850	39912069	41283141	238	899											
STAT5A	6776	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	40460310	40460310	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:40460310C>A	ENST00000345506.4	+	17	2663	c.2021C>A	c.(2020-2022)cCc>cAc	p.P674H	STAT5A_ENST00000587646.1_Missense_Mutation_p.P162H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P643H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P671H|STAT5A_ENST00000590949.1_Missense_Mutation_p.P674H|STAT5A_ENST00000546010.2_Missense_Mutation_p.P644H	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	674	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|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)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCTGACCGCCCCAAGGATGAG	0.602																																					p.P674H		.											.	.	.	0			c.C2021A						.						72	67	69					17																	40460310		2203	4300	6503	SO:0001583	missense	6776	exon17			ACCGCCCCAAGGA	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.2021C>A	17.37:g.40460310C>A	ENSP00000341208:p.Pro674His	44	0		40	4	NM_003152	Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949630	0.92660	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.97138	-4.26;-4.26;-4.26	5.06	5.06	0.68205	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.98;1.0	D;D;D;P;D	0.74023	0.975;0.973;0.964;0.883;0.982	D	0.99804	1.1037	10	0.87932	D	0	-32.9185	18.4321	0.90630	0.0:1.0:0.0:0.0	.	674;671;644;645;674	A8K6I5;Q8WWS9;Q1KLZ6;Q59GY7;P42229	.;.;.;.;STA5A_HUMAN	H	674;644;645;671	ENSP00000341208:P674H;ENSP00000443107:P644H;ENSP00000400320:P671H	ENSP00000341208:P674H	P	+	2	0	STAT5A	37713836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.368000	0.80403	0.561000	0.74099	CCC	.		0.602	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		A	40460310	C	A	40460310	3	1	6	1	0	0	0	0	1	0	0	0	15315	623	22	3	2079	3	STAT5A	17	40460310	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	548241	40460310	40734900	239	900											
SCRN2	90507	bcgsc.ca	37	17	45918185	45918185	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:45918185G>T	ENST00000290216.9	-	2	150	c.25C>A	c.(25-27)Cca>Aca	p.P9T	SCRN2_ENST00000584123.1_Missense_Mutation_p.P17T|SCRN2_ENST00000407215.3_Missense_Mutation_p.P9T	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	9						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGGAACATGGGGAGTCAGGG	0.657																																					p.P9T													.	SCRN2	35	0			c.C25A						.						27	33	31					17																	45918185		2203	4300	6503	SO:0001583	missense	90507	exon2			AACATGGGGAGTC	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.25C>A	17.37:g.45918185G>T	ENSP00000290216:p.Pro9Thr	80	0		68	5	NM_138355	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.120151	0.77323	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.11385	2.83;2.78	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.23868	-1.0176	10	0.72032	D	0.01	-14.3584	18.2917	0.90133	0.0:0.0:1.0:0.0	.	9;9;9	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	T	9	ENSP00000290216:P9T;ENSP00000383935:P9T	ENSP00000290216:P9T	P	-	1	0	SCRN2	43273184	1.000000	0.71417	0.983000	0.44433	0.448000	0.32197	7.765000	0.85310	2.636000	0.89361	0.651000	0.88453	CCA	.		0.657	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		T	45918185	G	T	45918185	3	4	6	1	0	0	0	0	1	0	0	0	13984	1232	43	3	1298	3	SCRN2	17	45918185	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	5457875	45918185	35277025	240	901											
ABI3	51225	hgsc.bcm.edu	37	17	47299965	47299965	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:47299965C>A	ENST00000225941.1	+	8	1487	c.989C>A	c.(988-990)tCt>tAt	p.S330Y	ABI3_ENST00000419580.2_Missense_Mutation_p.S324Y	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	330	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)		p.S330F(1)		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)			CTCTCCTTCTCTGAGGGCACT	0.572										HNSCC(55;0.14)																											p.S330Y		.											ABI3,scalp,carcinoma,0,1	ABI3	0	1	Substitution - Missense(1)	skin(1)	c.C989A						.						129	90	103					17																	47299965		2203	4300	6503	SO:0001583	missense	51225	exon8			CCTTCTCTGAGGG	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.989C>A	17.37:g.47299965C>A	ENSP00000225941:p.Ser330Tyr	22	0		24	2	NM_016428	C9IZN8|Q9H0P6	Missense_Mutation	SNP	ENST00000225941.1	37	CCDS11546.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548225	0.65311	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	T;T	0.52526	0.66;0.66	5.17	3.05	0.35203	Src homology-3 domain (5);	0.604104	0.15938	N	0.237322	T	0.30070	0.0753	N	0.17564	0.495	0.09310	N	0.999998	B;P	0.34864	0.418;0.473	B;B	0.37451	0.162;0.25	T	0.13045	-1.0524	10	0.46703	T	0.11	-14.9291	5.6317	0.17514	0.3191:0.5765:0.0:0.1044	.	324;330	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	Y	330;324	ENSP00000225941:S330Y;ENSP00000406651:S324Y	ENSP00000225941:S330Y	S	+	2	0	ABI3	44654964	0.000000	0.05858	0.804000	0.32291	0.862000	0.49288	0.554000	0.23407	1.180000	0.42898	0.462000	0.41574	TCT	.		0.572	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		A	47299965	C	A	47299965	3	1	6	1	0	0	0	0	1	0	0	0	90	913	32	3	1019	3	ABI3	17	47299965	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1381780	47299965	33895245	241	902											
MED13	9969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	60043913	60043913	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:60043913C>T	ENST00000397786.2	-	19	4367	c.4291G>A	c.(4291-4293)Gta>Ata	p.V1431I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1431					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						CATTCTGCTACCAACTTTTCT	0.403																																					p.V1431I		.											.	.	.	0			c.G4291A						.						150	135	140					17																	60043913		1875	4110	5985	SO:0001583	missense	9969	exon19			CTGCTACCAACTT	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.4291G>A	17.37:g.60043913C>T	ENSP00000380888:p.Val1431Ile	54	0		56	14	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078979	0.76528	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.63096	-0.02	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.69358	2.11	0.80722	D	1	P	0.39831	0.69	B	0.36666	0.23	T	0.64411	-0.6414	10	0.37606	T	0.19	-19.2005	19.363	0.94448	0.0:1.0:0.0:0.0	.	1431	Q9UHV7	MED13_HUMAN	I	1431;1430	ENSP00000380888:V1431I	ENSP00000262436:V1430I	V	-	1	0	MED13	57398695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.727000	0.68523	2.584000	0.87258	0.563000	0.77884	GTA	.		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60043913	C	T	60043913	3	4	6	1	0	0	0	0	1	0	0	0	9468	507	18	3	2281	3	MED13	17	60043913	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	12743948	60043913	21151297	242	903											
SDK2	54549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	71334731	71334731	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:71334731C>A	ENST00000392650.3	-	45	6514	c.6514G>T	c.(6514-6516)Gtt>Ttt	p.V2172F	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V2153F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2172					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						TGATGTCAAACAAATGATGAA	0.542																																					p.V2172F		.											.	.	.	0			c.G6514T						.						17	18	18					17																	71334731		2193	4274	6467	SO:0001583	missense	54549	exon45			GTCAAACAAATGA	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.6514G>T	17.37:g.71334731C>A	ENSP00000376421:p.Val2172Phe	31	0		47	15	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284125	0.59867	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000410094	T;T;T	0.65732	-0.15;-0.17;0.98	4.62	4.62	0.57501	.	.	.	.	.	T	0.63570	0.2522	N	0.08118	0	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.988	T	0.73745	-0.3886	9	0.87932	D	0	.	17.4484	0.87585	0.0:1.0:0.0:0.0	.	2172;2153	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	F	1796;2172;2153;1329;513	ENSP00000376421:V2172F;ENSP00000373378:V2153F;ENSP00000407098:V1329F	ENSP00000373378:V2153F	V	-	1	0	SDK2	68846326	1.000000	0.71417	0.924000	0.36721	0.229000	0.25112	7.046000	0.76592	2.273000	0.75805	0.557000	0.71058	GTT	.		0.542	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71334731	C	A	71334731	3	1	6	1	0	0	0	0	1	0	0	0	14014	478	17	3	8	3	SDK2	17	71334731	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	11290818	71334731	9860479	243	904											
SDK2	54549	hgsc.bcm.edu	37	17	71394551	71394551	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:71394551C>A	ENST00000392650.3	-	23	3111	c.3111G>T	c.(3109-3111)gaG>gaT	p.E1037D	SDK2_ENST00000388726.3_Missense_Mutation_p.E1037D	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1037	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						ACTCCTCTCCCTCCCCAACCA	0.627																																					p.E1037D		.											.	.	.	0			c.G3111T						.						91	83	85					17																	71394551		2203	4300	6503	SO:0001583	missense	54549	exon23			CTCTCCCTCCCCA	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.3111G>T	17.37:g.71394551C>A	ENSP00000376421:p.Glu1037Asp	126	0		94	4	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844250	0.16963	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57595	0.39;0.39;0.39	4.55	2.57	0.30868	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179938	0.47852	D	0.000213	T	0.41743	0.1172	L	0.53671	1.685	0.45541	D	0.998497	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.19877	-1.0292	10	0.09843	T	0.71	.	10.2196	0.43190	0.0:0.8394:0.0:0.1606	.	1037;1037;1037	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	D	661;1037;1037;213;1037	ENSP00000376421:E1037D;ENSP00000373378:E1037D;ENSP00000407098:E213D	ENSP00000324967:E1037D	E	-	3	2	SDK2	68906146	0.579000	0.26725	1.000000	0.80357	0.787000	0.44495	0.228000	0.17814	0.552000	0.29026	0.462000	0.41574	GAG	.		0.627	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71394551	C	A	71394551	3	1	6	1	0	0	0	0	1	0	0	0	14014	680	24	3	3499	3	SDK2	17	71394551	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	59820	71394551	9800659	244	905											
FDXR	2232	hgsc.bcm.edu	37	17	72859251	72859251	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:72859251G>T	ENST00000293195.5	-	11	1370	c.1292C>A	c.(1291-1293)cCc>cAc	p.P431H	FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581530.1_Missense_Mutation_p.P437H|FDXR_ENST00000582944.1_Missense_Mutation_p.P423H|FDXR_ENST00000420580.2_Missense_Mutation_p.P391H|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000442102.2_Missense_Mutation_p.P474H|FDXR_ENST00000583917.1_Missense_Mutation_p.P403H|FDXR_ENST00000413947.2_Missense_Mutation_p.P462H|FDXR_ENST00000544854.1_Missense_Mutation_p.P379H	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	431					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.P437L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GGGGCCAGAGGGGAGCAACCC	0.647																																					p.P474H		.											FDXR,NS,carcinoma,0,1	FDXR	0	2	Substitution - Missense(2)	lung(2)	c.C1421A						.						41	37	38					17																	72859251		2203	4300	6503	SO:0001583	missense	2232	exon11			CCAGAGGGGAGCA	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1292C>A	17.37:g.72859251G>T	ENSP00000293195:p.Pro431His	51	0		42	2	NM_001258012	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769832	0.31320	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T;T;T;T	0.21734	3.04;3.06;1.99;1.99	4.74	4.74	0.60224	NAD(P)-binding domain (1);	0.298300	0.34802	N	0.003674	T	0.34424	0.0897	M	0.72479	2.2	0.20196	N	0.999925	D;D;P;P;P;P;B;P;B;P	0.58620	0.983;0.979;0.93;0.911;0.888;0.887;0.037;0.911;0.037;0.931	P;P;P;P;P;B;B;P;B;P	0.57009	0.811;0.799;0.692;0.493;0.472;0.406;0.016;0.493;0.016;0.472	T	0.22347	-1.0219	10	0.45353	T	0.12	-8.894	6.9186	0.24374	0.0953:0.179:0.7257:0.0	.	391;474;462;429;379;462;431;423;431;437	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	H	391;379;437;474;462	ENSP00000414172:P391H;ENSP00000445432:P379H;ENSP00000416515:P474H;ENSP00000408595:P462H	ENSP00000293195:P437H	P	-	2	0	FDXR	70370846	0.199000	0.23386	0.894000	0.35097	0.115000	0.19883	2.880000	0.48530	2.171000	0.68590	0.462000	0.41574	CCC	.		0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		T	72859251	G	T	72859251	3	4	6	1	0	0	0	0	1	0	0	0	5829	1232	43	3	191	3	FDXR	17	72859251	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1464700	72859251	8335959	245	906											
EVPL	2125	broad.mit.edu	37	17	74003247	74003247	+	Silent	SNP	C	C	T	rs201429993		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr17:74003247C>T	ENST00000301607.3	-	22	6292	c.6039G>A	c.(6037-6039)gcG>gcA	p.A2013A	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.A2035A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	2013	Globular 2.				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						CCTCCAGTGCCGCTGGCAGGA	0.672																																					p.A2013A													.	EVPL	155	0			c.G6039A						.						37	40	39					17																	74003247		2202	4298	6500	SO:0001819	synonymous_variant	2125	exon22			CAGTGCCGCTGGC	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.6039G>A	17.37:g.74003247C>T		53	0		51	3	NM_001988	A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																			C|0.999;T|0.001		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		T	74003247	C	T	74003247	2	4	6	1	0	0	0	0	0	0	0	1	5308	639	23	1		1	EVPL	17	74003247	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1143996	74003247	7191963	246	907											
KLHL14	57565	broad.mit.edu	37	18	30260289	30260289	+	Splice_Site	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr18:30260289C>T	ENST00000359358.4	-	7	1869	c.1431G>A	c.(1429-1431)ggG>ggA	p.G477G		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	477						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						TGTGTACACCCCCTGTGAAAT	0.393																																					p.G477G													.	KLHL14	92	0			c.G1431A						.						150	139	143					18																	30260289		2203	4300	6503	SO:0001630	splice_region_variant	57565	exon7			TACACCCCCTGTG	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.1430-1G>A	18.37:g.30260289C>T		54	0		51	4	NM_020805	A6NNW1|B4DHA0|Q8WU41	Splice_Site	SNP	ENST00000359358.4	37	CCDS32813.1																																																																																			.		0.393	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1		Silent	T	30260289	C	T	30260289	5	4	6	1	0	0	0	0	0	0	1	0	8397	637	22	3	467	3	KLHL14	18	30260289	Splice_Site	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		30260289	47816959	247	908											
C18orf34	374864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	30950047	30950047	+	Missense_Mutation	SNP	A	A	T	rs376232207		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr18:30950047A>T	ENST00000383096.3	-	6	497	c.315T>A	c.(313-315)gaT>gaA	p.D105E	CCDC178_ENST00000406524.2_Missense_Mutation_p.D105E|CCDC178_ENST00000579947.1_Missense_Mutation_p.D105E|CCDC178_ENST00000402325.1_Missense_Mutation_p.D105E|CCDC178_ENST00000300227.8_Missense_Mutation_p.D105E|CCDC178_ENST00000403303.1_Missense_Mutation_p.D105E|CCDC178_ENST00000579916.1_Missense_Mutation_p.D105E|CCDC178_ENST00000583930.1_Missense_Mutation_p.D105E			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	105																	TGGACTCCACATCTTGGATGT	0.378																																					p.D105E		.											.	.	.	0			c.T315A						.						94	86	89					18																	30950047		2203	4299	6502	SO:0001583	missense	374864	exon5			CTCCACATCTTGG	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.315T>A	18.37:g.30950047A>T	ENSP00000372576:p.Asp105Glu	23	0		31	13	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091223	0.36855	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.46451	2.46;2.46;2.44;2.45;2.45;0.87	5.63	-1.63	0.08345	.	.	.	.	.	T	0.23171	0.0560	L	0.31752	0.955	0.24389	N	0.994751	P;P;P;P;P	0.40107	0.703;0.506;0.506;0.506;0.506	B;B;B;B;B	0.40101	0.319;0.203;0.319;0.203;0.319	T	0.14420	-1.0473	9	0.18276	T	0.48	-12.4118	1.0935	0.01668	0.3907:0.2987:0.1661:0.1445	.	105;105;105;105;105	F8W7A7;A1L4G8;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	E	105	ENSP00000385591:D105E;ENSP00000372576:D105E;ENSP00000300227:D105E;ENSP00000385867:D105E;ENSP00000385234:D105E;ENSP00000382130:D105E	ENSP00000300227:D105E	D	-	3	2	C18orf34	29204045	0.924000	0.31332	0.984000	0.44739	0.894000	0.52154	0.468000	0.22051	-0.165000	0.10908	-0.256000	0.11100	GAT	.		0.378	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		T	30950047	A	T	30950047	3	4	6	1	0	0	0	0	1	0	0	0	1909	214	8	5	2360	5	C18orf34	18	30950047	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	689758	30950047	47127201	248	909											
KATNAL2	83473	hgsc.bcm.edu	37	18	44603829	44603829	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr18:44603829C>A	ENST00000592005.1	+	5	924	c.251C>A	c.(250-252)cCg>cAg	p.P84Q	RP11-49K24.4_ENST00000592747.1_RNA|KATNAL2_ENST00000245121.5_Missense_Mutation_p.P331Q|KATNAL2_ENST00000356157.7_Missense_Mutation_p.P403Q					katanin p60 subunit A-like 2									p.P331L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCTAACCTGCCGTGGTAAGAG	0.428																																					p.P331Q		.											KATNAL2,colon,carcinoma,0,1	KATNAL2	0	1	Substitution - Missense(1)	large_intestine(1)	c.C992A						.						114	102	106					18																	44603829		2203	4300	6503	SO:0001583	missense	83473	exon12			ACCTGCCGTGGTA	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		ENST00000592005.1:c.251C>A	18.37:g.44603829C>A	ENSP00000467610:p.Pro84Gln	39	0		43	3	NM_031303		Missense_Mutation	SNP	ENST00000592005.1	37		.	.	.	.	.	.	.	.	.	.	C	19.81	3.895752	0.72639	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.95412	-3.7;-3.7	5.83	5.83	0.93111	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99056	1.0829	10	0.87932	D	0	-2.0E-4	20.1208	0.97960	0.0:1.0:0.0:0.0	.	171;403	F8WBL0;Q8IYT4	.;KATL2_HUMAN	Q	403;331;171	ENSP00000348478:P403Q;ENSP00000245121:P331Q	ENSP00000245121:P331Q	P	+	2	0	KATNAL2	42857827	1.000000	0.71417	0.989000	0.46669	0.262000	0.26303	7.431000	0.80335	2.758000	0.94735	0.655000	0.94253	CCG	.		0.428	KATNAL2-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000446324.2	NM_031303		A	44603829	C	A	44603829	3	1	6	1	0	0	0	0	1	0	0	0	8013	652	23	2	1034	2	KATNAL2	18	44603829	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	13653782	44603829	33473419	249	910											
ABCA7	10347	hgsc.bcm.edu	37	19	1052100	1052100	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:1052100G>T	ENST00000263094.6	+	22	3353	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	ABCA7_ENST00000433129.1_Missense_Mutation_p.R1041L|ABCA7_ENST00000435683.2_Missense_Mutation_p.R903L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1041					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)		GTGAAGGCCCGCCTGCCCCTG	0.672																																					p.R1041L		.											ABCA7,caecum,carcinoma,0,1	ABCA7	0	0			c.G3122T						.						24	24	24					19																	1052100		2186	4279	6465	SO:0001583	missense	10347	exon22			AGGCCCGCCTGCC	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.3122G>T	19.37:g.1052100G>T	ENSP00000263094:p.Arg1041Leu	16	0		21	2	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	10.10	1.258293	0.23051	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86432	-2.12;-2.12	4.44	-7.01	0.01594	.	.	.	.	.	T	0.69151	0.3079	N	0.16790	0.44	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.13407	0.009;0.002	T	0.54364	-0.8305	9	0.30078	T	0.28	.	2.9362	0.05815	0.1702:0.2792:0.3863:0.1643	.	903;1041	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	1041	ENSP00000263094:R1041L;ENSP00000414062:R1041L	ENSP00000263094:R1041L	R	+	2	0	ABCA7	1003100	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.104000	0.03326	-0.620000	0.05641	-0.330000	0.08379	CGC	.		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1052100	G	T	1052100	3	4	6	1	0	0	0	0	1	0	0	0	37	1087	38	2	3204	2	ABCA7	19	1052100	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		1052100	58076883	250	911											
CELF5	60680	hgsc.bcm.edu	37	19	3281207	3281207	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:3281207C>A	ENST00000292672.2	+	6	651	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	CELF5_ENST00000541430.2_Missense_Mutation_p.S205Y	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	205	RRM 2. {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						GGAGCCTCCTCCAGCCTGGTG	0.667																																					p.S205Y		.											CELF5,NS,malignant_melanoma,0,2	CELF5	0	0			c.C614A						.						61	62	61					19																	3281207		2203	4300	6503	SO:0001583	missense	60680	exon6			CCTCCTCCAGCCT	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.614C>A	19.37:g.3281207C>A	ENSP00000292672:p.Ser205Tyr	44	0		51	3	NM_021938	D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016471	0.75161	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.36157	3.35;1.53;1.27	4.15	4.15	0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.060463	0.64402	D	0.000002	T	0.45377	0.1339	L	0.34521	1.04	0.80722	D	1	D;D;P	0.76494	0.999;0.995;0.954	P;P;B	0.60415	0.874;0.852;0.446	T	0.50233	-0.8852	10	0.87932	D	0	-14.4095	15.3991	0.74823	0.0:1.0:0.0:0.0	.	91;205;205	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	Y	205;205;91	ENSP00000292672:S205Y;ENSP00000443498:S205Y;ENSP00000335182:S91Y	ENSP00000292672:S205Y	S	+	2	0	CELF5	3232207	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.699000	0.84547	2.040000	0.60383	0.462000	0.41574	TCC	.		0.667	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		A	3281207	C	A	3281207	3	1	6	1	0	0	0	0	1	0	0	0	3226	855	30	3	636	3	CELF5	19	3281207	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2229107	3281207	55847776	251	912											
KDM4B	23030	ucsc.edu;bcgsc.ca	37	19	5071058	5071058	+	Missense_Mutation	SNP	C	C	T	rs151146933		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:5071058C>T	ENST00000159111.4	+	7	882	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	KDM4B_ENST00000536461.1_Missense_Mutation_p.R222W|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.R222W	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	222	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						GCGCCTGGAGCGGCTGGCCAT	0.706																																					p.R222W													.	KDM4B	120	0			c.C664T						.						32	33	33					19																	5071058		2203	4300	6503	SO:0001583	missense	23030	exon7			CTGGAGCGGCTGG	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.664C>T	19.37:g.5071058C>T	ENSP00000159111:p.Arg222Trp	50	0		46	5	NM_015015	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869940	0.72065	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.72835	-0.69;-0.69;-0.69	4.62	3.49	0.39957	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	M	0.91196	3.185	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.985;0.983;0.991	D	0.87606	0.2500	10	0.87932	D	0	-35.3527	11.0003	0.47602	0.296:0.704:0.0:0.0	.	222;222;222	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	W	222	ENSP00000159111:R222W;ENSP00000371178:R222W;ENSP00000440495:R222W	ENSP00000159111:R222W	R	+	1	2	KDM4B	5022058	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.034000	0.30204	2.292000	0.77174	0.650000	0.86243	CGG	C|1.000;A|0.000		0.706	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		T	5071058	C	T	5071058	3	4	6	1	0	0	0	0	1	0	0	0	8156	759	27	1	682	1	KDM4B	19	5071058	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1789851	5071058	54057925	252	913											
ZNF560	147741	hgsc.bcm.edu	37	19	9579006	9579006	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:9579006C>A	ENST00000301480.4	-	10	830	c.617G>T	c.(616-618)aGa>aTa	p.R206I		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	206					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						ATTTTGGTTTCTTGCCTGTTA	0.348																																					p.R206I		.											ZNF560,NS,carcinoma,0,1	ZNF560	0	0			c.G617T						.						64	50	55					19																	9579006		2203	4300	6503	SO:0001583	missense	147741	exon10			TGGTTTCTTGCCT	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.617G>T	19.37:g.9579006C>A	ENSP00000301480:p.Arg206Ile	38	0		39	2	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439542	0.43326	.	.	ENSG00000198028	ENST00000301480	T	0.29655	1.56	2.15	-0.0455	0.13851	.	.	.	.	.	T	0.46814	0.1412	M	0.75447	2.3	0.09310	N	0.999992	D	0.89917	1.0	D	0.68192	0.956	T	0.28106	-1.0054	9	0.36615	T	0.2	.	5.9629	0.19308	0.0:0.6972:0.0:0.3028	.	206	Q96MR9	ZN560_HUMAN	I	206	ENSP00000301480:R206I	ENSP00000301480:R206I	R	-	2	0	ZNF560	9440006	0.001000	0.12720	0.006000	0.13384	0.576000	0.36127	0.770000	0.26618	0.044000	0.15775	0.561000	0.74099	AGA	.		0.348	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		A	9579006	C	A	9579006	3	1	6	1	0	0	0	0	1	0	0	0	18039	913	32	3	1759	3	ZNF560	19	9579006	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4507948	9579006	49549977	253	914											
LOC55908	55908	ucsc.edu;bcgsc.ca	37	19	11352354	11352354	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:11352354C>A	ENST00000252453.8	+	4	607	c.588C>A	c.(586-588)ctC>ctA	p.L196L	DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Silent_p.L97L	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	196					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						CAGCGGCGCTCCCAGCCTGAA	0.652																																					p.L196L													.	C19orf80	8	0			c.C588A						.						20	26	24					19																	11352354		2064	4197	6261	SO:0001819	synonymous_variant	55908	exon4			GGCGCTCCCAGCC		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.588C>A	19.37:g.11352354C>A		39	0		40	4	NM_018687	Q9NQZ1	Silent	SNP	ENST00000252453.8	37	CCDS54220.1																																																																																			.		0.652	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453175.1	NM_018687		A	11352354	C	A	11352354	2	1	6	1	0	0	0	0	0	0	0	1	8915	842	30	3		3	LOC55908	19	11352354	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1773348	11352354	47776629	254	915											
ZNF442	79973	hgsc.bcm.edu;bcgsc.ca	37	19	12461025	12461025	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:12461025C>A	ENST00000242804.4	-	6	1956	c.1374G>T	c.(1372-1374)gaG>gaT	p.E458D	ZNF442_ENST00000438182.1_Missense_Mutation_p.E389D|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	458					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						TATAGGGTTTCTCTCCAGTGT	0.388																																					p.E458D		.											.	.	.	0			c.G1374T						.						62	67	65					19																	12461025		2203	4300	6503	SO:0001583	missense	79973	exon6			GGGTTTCTCTCCA	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.1374G>T	19.37:g.12461025C>A	ENSP00000242804:p.Glu458Asp	49	0		65	4	NM_030824	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948516	0.34377	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.26810	1.71;1.71	0.832	-0.303	0.12792	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17408	0.0418	L	0.38649	1.16	0.25754	N	0.985021	B	0.02656	0.0	B	0.08055	0.003	T	0.24440	-1.0160	9	0.54805	T	0.06	.	5.0343	0.14426	0.0:0.7556:0.0:0.2444	.	458	Q9H7R0	ZN442_HUMAN	D	458;389	ENSP00000242804:E458D;ENSP00000388634:E389D	ENSP00000242804:E458D	E	-	3	2	ZNF442	12322025	1.000000	0.71417	0.839000	0.33178	0.585000	0.36419	1.743000	0.38258	-0.071000	0.12886	0.313000	0.20887	GAG	.		0.388	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		A	12461025	C	A	12461025	3	1	6	1	0	0	0	0	1	0	0	0	17963	912	32	3	513	3	ZNF442	19	12461025	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1108671	12461025	46667958	255	916											
CYP4F3	4051	ucsc.edu	37	19	15760954	15760954	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:15760954C>A	ENST00000221307.8	+	7	926	c.879C>A	c.(877-879)tcC>tcA	p.S293S	CYP4F3_ENST00000591058.1_Silent_p.S293S|CYP4F3_ENST00000586182.2_Silent_p.S293S|CYP4F3_ENST00000585846.1_Silent_p.S293S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	293					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						AGGCCAAATCCAAGACTTTGG	0.542																																					p.S293S													.	CYP4F3	69	0			c.C879A						.						61	57	58					19																	15760954		2203	4298	6501	SO:0001819	synonymous_variant	4051	exon7			CAAATCCAAGACT	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.879C>A	19.37:g.15760954C>A		47	0		33	4	NM_001199209	B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																			.		0.542	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15760954	C	A	15760954	2	1	6	1	0	0	0	0	0	0	0	1	4199	581	21	3		3	CYP4F3	19	15760954	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	3299929	15760954	43368029	256	917											
OR10H1	26539	hgsc.bcm.edu	37	19	15918728	15918728	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:15918728C>A	ENST00000334920.2	-	1	208	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, 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)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCAGGTTGCCCAGCAGCGTGA	0.597																																					p.L40L		.											OR10H1,right_upper_lobe,carcinoma,0,1	OR10H1	0	0			c.G120T						.						135	118	124					19																	15918728		2203	4297	6500	SO:0001819	synonymous_variant	26539	exon1			GTTGCCCAGCAGC	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.120G>T	19.37:g.15918728C>A		37	0		50	3	NM_013940	Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	CCDS12335.1																																																																																			.		0.597	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			A	15918728	C	A	15918728	2	1	6	1	0	0	0	0	0	0	0	1	10944	581	21	3		3	OR10H1	19	15918728	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	157774	15918728	43210255	257	918											
ZNF208	7757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	22157097	22157097	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:22157097G>T	ENST00000397126.4	-	4	887	c.739C>A	c.(739-741)Cat>Aat	p.H247N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	247					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)				ATTACCTTATGTTTAGTAAGG	0.353																																					p.H247N		.											.	.	.	0			c.C739A						.						36	40	39					19																	22157097		2107	4235	6342	SO:0001583	missense	7757	exon4			CCTTATGTTTAGT	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.739C>A	19.37:g.22157097G>T	ENSP00000380315:p.His247Asn	36	0		46	24	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124115	0.37533	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.86865	-2.18	2.93	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.89339	0.6687	.	.	.	0.09310	N	1	P	0.51791	0.948	P	0.55615	0.78	T	0.79845	-0.1631	8	0.66056	D	0.02	.	8.6631	0.34103	0.1255:0.0:0.8745:0.0	.	247	O43345	ZN208_HUMAN	N	247	ENSP00000380315:H247N	ENSP00000380315:H247N	H	-	1	0	ZNF208	21948937	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	4.939000	0.63526	0.214000	0.20742	0.313000	0.20887	CAT	.		0.353	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22157097	G	T	22157097	3	4	6	1	0	0	0	0	1	0	0	0	17814	1377	48	3	3107	3	ZNF208	19	22157097	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	6238369	22157097	36971886	258	919											
ZNF536	9745	hgsc.bcm.edu	37	19	31039277	31039277	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:31039277C>A	ENST00000355537.3	+	4	2898	c.2751C>A	c.(2749-2751)tcC>tcA	p.S917S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	917					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.S917S(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)					TCCAAGGGTCCTTGCAAGCTT	0.493																																					p.S917S		.											ZNF536,caecum,carcinoma,0,1	ZNF536	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C2751A						.						187	193	191					19																	31039277		2203	4300	6503	SO:0001819	synonymous_variant	9745	exon4			AGGGTCCTTGCAA		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.2751C>A	19.37:g.31039277C>A		36	0		36	2	NM_014717	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																			.		0.493	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	31039277	C	A	31039277	2	1	6	1	0	0	0	0	0	0	0	1	18022	668	24	3		3	ZNF536	19	31039277	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	8882180	31039277	28089706	259	920											
ZFP112	7771	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	44832524	44832525	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	CT	CT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:44832524_44832525delCT	ENST00000337401.4	-	5	1891_1892	c.1803_1804delAG	c.(1801-1806)agagttfs	p.RV601fs	ZNF112_ENST00000354340.4_Frame_Shift_Del_p.RV595fs|ZNF112_ENST00000536500.1_Frame_Shift_Del_p.RV618fs	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCAGTGTGAACTCTCTGATGGC	0.47																																					p.602_602del		.											.	.	.	0			c.1804_1805del						.																																			SO:0001589	frameshift_variant	7771	exon5			TGTGAACTCTCTG	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.1803_1804delAG	19.37:g.44832528_44832529delCT	ENSP00000337081:p.Arg601fs	75	0		61	12	NM_001083335	A4FU53|Q9HCA7	Frame_Shift_Del	DEL	ENST00000337401.4	37	CCDS54276.1																																																																																			.		0.47	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		-	44832525	CT	-	44832524	7	5	6	1	0	1	0	1	0	0	0	0	17686	565	20	0	941	0	ZFP112	19	44832524	Frame_Shift_Del	DEL	CT	TCGA-4G-AAZO-01A-12D-A417-09	13793247	44832524	14296459	260	921											
ARHGAP35	2909	hgsc.bcm.edu	37	19	47423517	47423517	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:47423517C>A	ENST00000404338.3	+	1	1585	c.1585C>A	c.(1585-1587)Cga>Aga	p.R529R		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	529	FF 4.				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)	p.R529*(2)									AGAGGAACAGCGATTTAAAGC	0.443																																					p.R529R		.											GRLF1_ENST00000317082,bladder,carcinoma,0,6	GRLF1_ENST00000317082	0	2	Substitution - Nonsense(2)	lung(2)	c.C1585A						.						157	153	155					19																	47423517		1968	4152	6120	SO:0001819	synonymous_variant	2909	exon1			GAACAGCGATTTA	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.1585C>A	19.37:g.47423517C>A		36	0		41	2	NM_004491	A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	CCDS46127.1																																																																																			.		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47423517	C	A	47423517	2	1	6	1	0	0	0	0	0	0	0	1	6822	760	27	2		2	ARHGAP35	19	47423517	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2590993	47423517	11705466	261	922											
GRIN2D	2906	hgsc.bcm.edu;bcgsc.ca	37	19	48918188	48918188	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:48918188C>T	ENST00000263269.3	+	6	1568	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	494					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)	CATTCTGAAGCGGCTGGCGCA	0.612																																					p.R494W		.											.	.	.	0			c.C1480T						.						51	52	51					19																	48918188		2203	4300	6503	SO:0001583	missense	2906	exon6			CTGAAGCGGCTGG	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.1480C>T	19.37:g.48918188C>T	ENSP00000263269:p.Arg494Trp	81	0		70	4	NM_000836		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030424	0.75504	.	.	ENSG00000105464	ENST00000263269	T	0.27890	1.64	4.88	2.7	0.31948	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	T	0.40247	0.1109	L	0.28274	0.84	0.43531	D	0.995815	D	0.89917	1.0	D	0.85130	0.997	T	0.25012	-1.0144	10	0.87932	D	0	.	12.1371	0.53977	0.3727:0.6272:0.0:0.0	.	494	O15399	NMDE4_HUMAN	W	494	ENSP00000263269:R494W	ENSP00000263269:R494W	R	+	1	2	GRIN2D	53610000	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.960000	0.29253	0.495000	0.27882	0.655000	0.94253	CGG	.		0.612	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			T	48918188	C	T	48918188	3	4	6	1	0	0	0	0	1	0	0	0	6809	759	27	1	1498	1	GRIN2D	19	48918188	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	1494671	48918188	10210795	262	923											
SIGLEC9	27180	hgsc.bcm.edu	37	19	51628378	51628378	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:51628378C>A	ENST00000250360.3	+	1	214	c.147C>A	c.(145-147)ggC>ggA	p.G49G	SIGLEC9_ENST00000440804.3_Silent_p.G49G	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	49	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)	p.G49G(1)		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)		CCTCGCATGGCTGGATTTACC	0.577																																					p.G49G		.											SIGLEC9,NS,carcinoma,0,1	SIGLEC9	0	1	Substitution - coding silent(1)	lung(1)	c.C147A						.						133	91	105					19																	51628378		2203	4300	6503	SO:0001819	synonymous_variant	27180	exon1			GCATGGCTGGATT	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.147C>A	19.37:g.51628378C>A		48	0		56	3	NM_001198558	Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	CCDS12825.1																																																																																			.		0.577	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		A	51628378	C	A	51628378	2	1	6	1	0	0	0	0	0	0	0	1	14360	784	28	3		3	SIGLEC9	19	51628378	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2710190	51628378	7500605	263	924											
ZNF613	79898	hgsc.bcm.edu	37	19	52448266	52448266	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:52448266G>T	ENST00000293471.6	+	6	1809	c.1130G>T	c.(1129-1131)tGt>tTt	p.C377F	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.C341F	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	377					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)		TGCCGTGATTGTGGAAAAGGC	0.403																																					p.C377F		.											ZNF613,NS,carcinoma,0,1	ZNF613	0	0			c.G1130T						.						96	91	93					19																	52448266		2203	4300	6503	SO:0001583	missense	79898	exon6			GTGATTGTGGAAA	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.1130G>T	19.37:g.52448266G>T	ENSP00000293471:p.Cys377Phe	39	0		50	3	NM_001031721	Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557027	0.65425	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	D;D	0.85861	-2.04;-2.04	3.25	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002279	D	0.94729	0.8299	H	0.97365	3.99	0.43137	D	0.994881	D	0.89917	1.0	D	0.91635	0.999	D	0.96402	0.9297	10	0.87932	D	0	.	13.7721	0.63032	0.0:0.0:1.0:0.0	.	377	Q6PF04	ZN613_HUMAN	F	377;341;51	ENSP00000293471:C377F;ENSP00000375671:C341F	ENSP00000293471:C377F	C	+	2	0	ZNF613	57140078	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	8.269000	0.89878	1.828000	0.53243	0.655000	0.94253	TGT	.		0.403	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		T	52448266	G	T	52448266	3	4	6	1	0	0	0	0	1	0	0	0	18086	1377	48	3	1144	3	ZNF613	19	52448266	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	819888	52448266	6680717	264	925											
ZNF432	9668	hgsc.bcm.edu;bcgsc.ca	37	19	52538068	52538068	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:52538068G>T	ENST00000594154.1	-	5	1076	c.864C>A	c.(862-864)ccC>ccA	p.P288P	ZNF432_ENST00000221315.5_Silent_p.P288P			O94892	ZN432_HUMAN	zinc finger protein 432	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)			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)		TGCATATGTAGGGTTTCTCTC	0.383																																					p.P288P		.											.	.	.	0			c.C864A						.						95	95	95					19																	52538068		2203	4300	6503	SO:0001819	synonymous_variant	9668	exon5			TATGTAGGGTTTC	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.864C>A	19.37:g.52538068G>T		36	0		34	4	NM_014650		Silent	SNP	ENST00000594154.1	37	CCDS12848.1																																																																																			.		0.383	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		T	52538068	G	T	52538068	2	4	6	1	0	0	0	0	0	0	0	1	17954	987	35	3		3	ZNF432	19	52538068	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	89802	52538068	6590915	265	926											
C19orf51	352909	hgsc.bcm.edu	37	19	55670934	55670934	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:55670934G>T	ENST00000524407.2	-	11	1238	c.1205C>A	c.(1204-1206)gCa>gAa	p.A402E	DNAAF3_ENST00000391720.4_Missense_Mutation_p.A449E|DNAAF3_ENST00000527223.2_Missense_Mutation_p.A469E|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A348E|TNNI3_ENST00000588882.1_5'Flank|TNNI3_ENST00000344887.5_5'Flank|TNNI3_ENST00000590463.1_5'Flank|CTD-2587H24.4_ENST00000587871.1_Silent_p.G63G|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	402					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.A449E(1)									CCCTCCGGGTGCCACACAGGC	0.592																																					p.A469E		.											C19orf51,NS,carcinoma,0,1	C19orf51	0	1	Substitution - Missense(1)	kidney(1)	c.C1406A						.						102	110	107					19																	55670934		2027	4187	6214	SO:0001583	missense	352909	exon11			CCGGGTGCCACAC	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1205C>A	19.37:g.55670934G>T	ENSP00000432046:p.Ala402Glu	28	0		31	2	NM_001256714	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831170	0.71258	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720;ENST00000530077	T;T	0.18016	2.24;2.24	4.21	3.15	0.36227	.	0.130082	0.49916	D	0.000124	T	0.34366	0.0895	M	0.64404	1.975	0.37253	D	0.906636	D;D;D;D	0.76494	0.989;0.996;0.965;0.999	P;D;P;D	0.70016	0.848;0.944;0.719;0.967	T	0.24154	-1.0168	10	0.36615	T	0.2	-19.6496	11.7241	0.51700	0.0:0.0:0.8213:0.1786	.	469;348;422;402	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	E	469;348;449;97	ENSP00000394343:A348E;ENSP00000375600:A449E	ENSP00000301249:A469E	A	-	2	0	C19orf51	60362746	1.000000	0.71417	0.997000	0.53966	0.670000	0.39368	0.769000	0.26604	1.073000	0.40885	0.485000	0.47835	GCA	.		0.592	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		T	55670934	G	T	55670934	3	4	6	1	0	0	0	0	1	0	0	0	1940	1319	46	3	428	3	C19orf51	19	55670934	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	3132866	55670934	3458049	266	927											
ZNF583	147949	hgsc.bcm.edu;bcgsc.ca	37	19	56934339	56934339	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:56934339G>T	ENST00000333201.9	+	5	522	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ZNF583_ENST00000291598.7_Silent_p.V104V	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTGTGACAGTGGGAGCAAGAC	0.378																																					p.V104V		.											.	.	.	0			c.G312T						.						91	85	87					19																	56934339		2203	4300	6503	SO:0001819	synonymous_variant	147949	exon5			GACAGTGGGAGCA	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.312G>T	19.37:g.56934339G>T		91	0		94	4	NM_001159861	O14850|Q2NKK3	Silent	SNP	ENST00000333201.9	37	CCDS12943.1																																																																																			.		0.378	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		T	56934339	G	T	56934339	2	4	6	1	0	0	0	0	0	0	0	1	18063	1335	47	3		3	ZNF583	19	56934339	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1263405	56934339	2194644	267	928											
ZNF264	9422	hgsc.bcm.edu	37	19	57723025	57723025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:57723025C>A	ENST00000263095.6	+	4	974	c.560C>A	c.(559-561)tCa>tAa	p.S187*	ZNF264_ENST00000536056.1_Nonsense_Mutation_p.S187*	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	187					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)		AGCCATAACTCATGTGAGTCA	0.433																																					p.S187X		.											ZNF264,NS,carcinoma,0,1	ZNF264	0	0			c.C560A						.						92	84	87					19																	57723025		2203	4300	6503	SO:0001587	stop_gained	9422	exon4			ATAACTCATGTGA	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.560C>A	19.37:g.57723025C>A	ENSP00000263095:p.Ser187*	33	0		38	2	NM_003417	A8K8Y9|Q9P1V0	Nonsense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966008	0.92855	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	.	.	.	1.79	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.3505	0.21373	0.0:0.8336:0.0:0.1664	.	.	.	.	X	187	.	ENSP00000263095:S187X	S	+	2	0	ZNF264	62414837	0.075000	0.21258	0.009000	0.14445	0.060000	0.15804	1.169000	0.31871	1.325000	0.45301	0.555000	0.69702	TCA	.		0.433	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			A	57723025	C	A	57723025	4	1	6	1	0	0	0	0	0	1	0	0	17852	838	29	3	574	3	ZNF264	19	57723025	Nonsense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	788686	57723025	1405958	268	929											
ZNF586	54807	hgsc.bcm.edu;bcgsc.ca	37	19	58290630	58290630	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr19:58290630G>T	ENST00000396154.2	+	3	848	c.675G>T	c.(673-675)agG>agT	p.R225S	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.R182S|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.G183V	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	225					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)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		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)		TTAAACACAGGAGGATTCACA	0.428																																					p.R225S		.											.	.	.	0			c.G675T						.						111	117	115					19																	58290630		2198	4300	6498	SO:0001583	missense	54807	exon3			ACACAGGAGGATT	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.675G>T	19.37:g.58290630G>T	ENSP00000379458:p.Arg225Ser	38	0		56	4	NM_017652	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	CCDS42640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.20|12.20	1.865596|1.865596	0.32977|0.32977	.|.	.|.	ENSG00000083828|ENSG00000083828	ENST00000396150|ENST00000449441;ENST00000391702;ENST00000396154	T|T;T	0.05580|0.07216	3.42|3.21;3.21	1.56|1.56	1.56|1.56	0.23342|0.23342	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.15435|0.15435	0.0372|0.0372	L|L	0.35793|0.35793	1.09|1.09	0.09310|0.09310	N|N	1|1	B|P	0.24483|0.41569	0.104|0.755	B|P	0.25405|0.60012	0.06|0.867	T|T	0.15093|0.15093	-1.0449|-1.0449	9|9	0.51188|0.87932	T|D	0.08|0	.|.	6.3684|6.3684	0.21468|0.21468	0.0:0.0:0.7077:0.2923|0.0:0.0:0.7077:0.2923	.|.	183|225	A0JLV8|Q9NXT0	.|ZN586_HUMAN	V|S	183|225;182;225	ENSP00000379454:G183V|ENSP00000375583:R182S;ENSP00000379458:R225S	ENSP00000379454:G183V|ENSP00000375583:R182S	G|R	+|+	2|3	0|2	ZNF586|ZNF586	62982442|62982442	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.008000|0.008000	0.06430|0.06430	-0.077000|-0.077000	0.11394|0.11394	0.822000|0.822000	0.34565|0.34565	0.591000|0.591000	0.81541|0.81541	GGA|AGG	.		0.428	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		T	58290630	G	T	58290630	3	4	6	1	0	0	0	0	1	0	0	0	18067	1165	41	3	685	3	ZNF586	19	58290630	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	567605	58290630	838353	269	930											
SIRPA	140885	hgsc.bcm.edu	37	20	1903045	1903045	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:1903045C>A	ENST00000358771.4	+	4	993	c.841C>A	c.(841-843)Cag>Aag	p.Q281K	SIRPA_ENST00000356025.3_Missense_Mutation_p.Q281K|SIRPA_ENST00000400068.3_Missense_Mutation_p.Q281K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	281	Ig-like C1-type 2.				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)		GTTCTACCCCCAGAGACTACA	0.537																																					p.Q281K	GBM(155;1668 1920 5945 42733 48121)	.											.	.	.	0			c.C841A						.						87	80	83					20																	1903045		2203	4298	6501	SO:0001583	missense	140885	exon5			TACCCCCAGAGAC	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.841C>A	20.37:g.1903045C>A	ENSP00000351621:p.Gln281Lys	69	0		67	5	NM_001040022	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	1.156	-0.645100	0.03531	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02579	4.24;4.24;4.24	5.35	-3.39	0.04868	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.456800	0.04018	N	0.299283	T	0.01905	0.0060	N	0.25485	0.75	0.09310	N	1	B;B;B	0.21225	0.017;0.053;0.012	B;B;B	0.22386	0.011;0.011;0.039	T	0.42799	-0.9430	10	0.02654	T	1	.	3.9723	0.09458	0.5097:0.195:0.2182:0.0771	.	261;281;281	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	K	281	ENSP00000382941:Q281K;ENSP00000348307:Q281K;ENSP00000351621:Q281K	ENSP00000348307:Q281K	Q	+	1	0	SIRPA	1851045	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.328000	0.07945	-0.303000	0.08856	-0.176000	0.13171	CAG	.		0.537	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1903045	C	A	1903045	3	1	6	1	0	0	0	0	1	0	0	0	14377	595	21	3	855	3	SIRPA	20	1903045	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		1903045	61122475	270	931											
FAM113A	64773	hgsc.bcm.edu	37	20	2819363	2819363	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:2819363C>A	ENST00000360652.2	-	5	975	c.473G>T	c.(472-474)cGg>cTg	p.R158L	PCED1A_ENST00000356872.3_Missense_Mutation_p.R107L|VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	158																	CAGGTTCTCCCGGTAGCTCTC	0.582																																					p.R158L		.											FAM113A,colon,carcinoma,0,1	FAM113A	0	0			c.G473T						.						172	154	160					20																	2819363		2203	4300	6503	SO:0001583	missense	64773	exon5			TTCTCCCGGTAGC	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.473G>T	20.37:g.2819363C>A	ENSP00000353868:p.Arg158Leu	18	0		33	2	NM_022760	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844032	0.32606	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	3.89	2.93	0.34026	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.151472	0.40908	D	0.000997	T	0.10723	0.0262	N	0.13235	0.315	0.39966	D	0.974729	B;B	0.24426	0.031;0.103	B;B	0.24701	0.034;0.055	T	0.12192	-1.0557	10	0.33141	T	0.24	-7.013	6.7152	0.23300	0.0:0.872:0.0:0.128	.	107;158	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	L	107;158;107;158	ENSP00000349334:R107L;ENSP00000353868:R158L;ENSP00000388935:R107L;ENSP00000401711:R158L	ENSP00000349334:R107L	R	-	2	0	FAM113A	2767363	0.494000	0.26043	0.922000	0.36590	0.442000	0.32017	0.684000	0.25364	2.205000	0.71048	0.462000	0.41574	CGG	.		0.582	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		A	2819363	C	A	2819363	3	1	6	1	0	0	0	0	1	0	0	0	5420	652	23	2	907	2	FAM113A	20	2819363	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	916318	2819363	60206157	271	932											
HAO1	54363	hgsc.bcm.edu	37	20	7886918	7886918	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:7886918C>A	ENST00000378789.3	-	4	655	c.604G>T	c.(604-606)Gac>Tac	p.D202Y		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	202	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						AGTCCACTGTCGTCTCCAAAA	0.363																																					p.D202Y		.											HAO1,NS,carcinoma,0,1	HAO1	0	0			c.G604T						.						108	105	106					20																	7886918		2203	4300	6503	SO:0001583	missense	54363	exon4			CACTGTCGTCTCC	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.604G>T	20.37:g.7886918C>A	ENSP00000368066:p.Asp202Tyr	60	0		42	2	NM_017545	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023639	0.35701	.	.	ENSG00000101323	ENST00000378789	T	0.30448	1.53	5.54	4.44	0.53790	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.430200	0.30547	N	0.009392	T	0.26919	0.0659	L	0.48362	1.52	0.43308	D	0.995318	B;B	0.14438	0.01;0.01	B;B	0.19666	0.026;0.026	T	0.06267	-1.0836	10	0.59425	D	0.04	-2.2629	8.2222	0.31547	0.0:0.2296:0.0:0.7704	.	202;202	A8K058;Q9UJM8	.;HAOX1_HUMAN	Y	202	ENSP00000368066:D202Y	ENSP00000368066:D202Y	D	-	1	0	HAO1	7834918	0.978000	0.34361	0.928000	0.36995	0.411000	0.31082	1.845000	0.39279	0.938000	0.37419	-0.469000	0.05056	GAC	.		0.363	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			A	7886918	C	A	7886918	3	1	6	1	0	0	0	0	1	0	0	0	6978	884	31	2	528	2	HAO1	20	7886918	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	5067555	7886918	55138602	272	933											
PCSK2	5126	hgsc.bcm.edu	37	20	17462334	17462334	+	Silent	SNP	G	G	T	rs556701460		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:17462334G>T	ENST00000262545.2	+	12	1851	c.1536G>T	c.(1534-1536)acG>acT	p.T512T	PCSK2_ENST00000536609.1_Silent_p.T477T|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.T493T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	512					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)"	CTGTCATCACGGTCAACGCAA	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		19089	0		0	False		,,,				2504	0				p.T512T		.											PCSK2,colon,carcinoma,0,1	PCSK2	0	0			c.G1536T						.						125	96	106					20																	17462334		2203	4300	6503	SO:0001819	synonymous_variant	5126	exon12			CATCACGGTCAAC	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.1536G>T	20.37:g.17462334G>T		67	0		50	3	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	CCDS13125.1																																																																																			.		0.542	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17462334	G	T	17462334	2	4	6	1	0	0	0	0	0	0	0	1	11640	1103	39	2		2	PCSK2	20	17462334	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	9575416	17462334	45563186	273	934											
ACSS2	55902	bcgsc.ca	37	20	33470783	33470783	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:33470783C>A	ENST00000360596.2	+	2	576	c.365C>A	c.(364-366)gCt>gAt	p.A122D	ACSS2_ENST00000253382.5_Missense_Mutation_p.A122D|ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Missense_Mutation_p.A72D	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	122					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)	GATAAAGTTGCTTTTTACTGG	0.363																																					p.A122D													.	ACSS2	75	0			c.C365A						.						72	67	69					20																	33470783		2203	4300	6503	SO:0001583	missense	55902	exon2			AAGTTGCTTTTTA	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.365C>A	20.37:g.33470783C>A	ENSP00000353804:p.Ala122Asp	48	0		28	3	NM_001076552	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049691	0.93740	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000484354;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;1.99;1.99;0.16;0.16	5.97	5.97	0.96955	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.047902	0.85682	D	0.000000	D	0.86447	0.5935	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.996	D	0.91006	0.4846	10	0.87932	D	0	-17.2035	19.1953	0.93686	0.0:1.0:0.0:0.0	.	122;122;122	Q5QPH3;B4DEH9;Q9NR19	.;.;ACSA_HUMAN	D	72;72;122;122;114;122;122;122	ENSP00000417783:A72D;ENSP00000337190:A72D;ENSP00000353804:A122D;ENSP00000419167:A114D;ENSP00000418812:A122D;ENSP00000419925:A122D;ENSP00000253382:A122D	ENSP00000253382:A122D	A	+	2	0	ACSS2	32934444	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.439000	0.80444	2.834000	0.97654	0.650000	0.86243	GCT	.		0.363	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		A	33470783	C	A	33470783	3	1	6	1	0	0	0	0	1	0	0	0	189	797	28	3	371	3	ACSS2	20	33470783	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	16008449	33470783	29554737	274	935											
ZHX3	23051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	39832673	39832673	+	Missense_Mutation	SNP	G	G	C			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:39832673G>C	ENST00000309060.3	-	4	1299	c.884C>G	c.(883-885)gCc>gGc	p.A295G	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.A295G|ZHX3_ENST00000544979.2_Missense_Mutation_p.A295G|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.A295G|ZHX3_ENST00000540170.1_Missense_Mutation_p.A295G|ZHX3_ENST00000432768.2_Missense_Mutation_p.A295G			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	295	Required for homodimerization and interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	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)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTTGGGAAGGGCCTTGGCCGT	0.572																																					p.A295G		.											.	.	.	0			c.C884G						.						91	80	84					20																	39832673		2203	4300	6503	SO:0001583	missense	23051	exon3			GGAAGGGCCTTGG	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.884C>G	20.37:g.39832673G>C	ENSP00000312222:p.Ala295Gly	31	0		33	15	NM_015035	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950830	0.34471	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.30981	1.51;2.92;2.92;2.71;1.51	6.07	6.07	0.98685	.	0.231325	0.42294	D	0.000734	T	0.19087	0.0458	N	0.08118	0	0.22457	N	0.999083	B;B;B	0.31077	0.004;0.004;0.307	B;B;B	0.30572	0.012;0.012;0.117	T	0.23868	-1.0176	10	0.49607	T	0.09	-12.0795	15.3709	0.74564	0.0:0.0:0.8606:0.1393	.	295;295;295	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	G	295;295;295;295;73;295	ENSP00000312222:A295G;ENSP00000362360:A295G;ENSP00000442290:A295G;ENSP00000443783:A295G;ENSP00000415498:A295G	ENSP00000312222:A295G	A	-	2	0	ZHX3	39266087	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.065000	0.57513	2.884000	0.98904	0.655000	0.94253	GCC	.		0.572	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		C	39832673	G	C	39832673	3	2	6	1	0	0	0	0	1	0	0	0	17725	1203	42	5	1994	5	ZHX3	20	39832673	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	6361890	39832673	23192847	275	936											
CTSA	5476	hgsc.bcm.edu	37	20	44523350	44523350	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:44523350C>A	ENST00000372459.2	+	8	1032	c.839C>A	c.(838-840)cCg>cAg	p.P280Q	CTSA_ENST00000372484.3_Missense_Mutation_p.P298Q|CTSA_ENST00000354880.5_Missense_Mutation_p.P281Q|CTSA_ENST00000191018.5_Missense_Mutation_p.P280Q|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A	280					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.P298L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTCTATGCCCCGTGTGCTGGA	0.597																																					p.P298Q		.											CTSA,NS,carcinoma,0,1	CTSA	0	1	Substitution - Missense(1)	endometrium(1)	c.C893A						.						99	95	96					20																	44523350		2203	4300	6503	SO:0001583	missense	5476	exon9			ATGCCCCGTGTGC	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.839C>A	20.37:g.44523350C>A	ENSP00000361537:p.Pro280Gln	51	0		31	3	NM_000308	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948985	0.53186	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.69	4.69	0.59074	.	0.100142	0.64402	D	0.000001	T	0.76321	0.3971	M	0.76002	2.32	0.80722	D	1	B;B;B	0.30973	0.302;0.219;0.099	B;B;B	0.32465	0.146;0.066;0.066	T	0.77632	-0.2515	10	0.51188	T	0.08	-0.1199	18.1587	0.89702	0.0:1.0:0.0:0.0	.	280;280;297	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	Q	281;298;280;263;280	ENSP00000346952:P281Q;ENSP00000361562:P298Q;ENSP00000191018:P280Q;ENSP00000408533:P263Q;ENSP00000361537:P280Q	ENSP00000191018:P280Q	P	+	2	0	CTSA	43956757	0.948000	0.32251	0.870000	0.34147	0.622000	0.37654	4.598000	0.61069	2.599000	0.87857	0.561000	0.74099	CCG	.		0.597	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		A	44523350	C	A	44523350	3	1	6	1	0	0	0	0	1	0	0	0	4038	652	23	2	927	2	CTSA	20	44523350	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	4690677	44523350	18502170	276	937											
CDH22	64405	hgsc.bcm.edu	37	20	44879706	44879706	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:44879706C>A	ENST00000372262.3	-	1	628	c.228G>T	c.(226-228)acG>acT	p.T76T	CDH22_ENST00000537909.1_Silent_p.T76T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	76	Cadherin 1. {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)				GCTCCGTGCCCGTGTACTCCT	0.662																																					p.T76T		.											.	.	.	0			c.G228T						.						34	35	35					20																	44879706		2203	4300	6503	SO:0001819	synonymous_variant	64405	exon2			CGTGCCCGTGTAC	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.228G>T	20.37:g.44879706C>A		68	0		54	4	NM_021248	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	CCDS13395.1																																																																																			.		0.662	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		A	44879706	C	A	44879706	2	1	6	1	0	0	0	0	0	0	0	1	3114	639	23	2		2	CDH22	20	44879706	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	356356	44879706	18145814	277	938											
NCOA3	8202	hgsc.bcm.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000372004.3_Silent_p.Q1249Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	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						agcagcagcagcaacagcagc	0.547																																					p.Q1253Q		.											NCOA3,NS,carcinoma,0,3	NCOA3	0	0			c.G3759A						.						46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202	exon20			GCAGCAGCAACAG	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.3759G>A	20.37:g.46279833G>A		24	1		25	2	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			.		0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279833	G	A	46279833	2	1	6	1	0	0	0	0	0	0	0	1	10269	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	1400127	46279833	16745687	278	939											
KCNQ2	3785	hgsc.bcm.edu	37	20	62071037	62071037	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr20:62071037C>A	ENST00000359125.2	-	6	1015	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	KCNQ2_ENST00000370224.1_Missense_Mutation_p.G281W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G281W|KCNQ2_ENST00000354587.3_Missense_Mutation_p.G281W|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G281W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G281W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G281W|KCNQ2_ENST00000344462.4_Missense_Mutation_p.G281W	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	281					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)	p.G281W(2)		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)	TACTTGTCCCCGTAGCCAATG	0.642																																					p.G281W		.											.	.	.	2	Substitution - Missense(2)	lung(2)	c.G841T						.						201	146	165					20																	62071037		2203	4300	6503	SO:0001583	missense	3785	exon6			TGTCCCCGTAGCC	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.841G>T	20.37:g.62071037C>A	ENSP00000352035:p.Gly281Trp	84	0		91	4	NM_172106	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477549	0.84640	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63	4.01	4.01	0.46588	Ion transport (1);	0.135280	0.48767	D	0.000166	D	0.99677	0.9879	H	0.98682	4.3	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;0.999;0.999;0.999;1.0	D	0.97089	0.9789	10	0.87932	D	0	-32.3429	16.4798	0.84155	0.0:1.0:0.0:0.0	.	281;281;281;281;281;281	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	W	281	ENSP00000349789:G281W;ENSP00000352035:G281W;ENSP00000359246:G281W;ENSP00000346601:G281W;ENSP00000352718:G281W;ENSP00000399612:G281W;ENSP00000353668:G281W;ENSP00000339611:G281W;ENSP00000359244:G281W;ENSP00000359242:G281W;ENSP00000359241:G281W;ENSP00000345523:G281W	ENSP00000345523:G281W	G	-	1	0	KCNQ2	61541481	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.854000	0.69503	1.908000	0.55244	0.561000	0.74099	GGG	.		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		A	62071037	C	A	62071037	3	1	6	1	0	0	0	0	1	0	0	0	8110	652	23	2	1889	2	KCNQ2	20	62071037	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	15791204	62071037	954483	279	940											
SYNJ1	8867	bcgsc.ca	37	21	34072179	34072179	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr21:34072179G>T	ENST00000322229.7	-	3	447	c.448C>A	c.(448-450)Caa>Aaa	p.Q150K	SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q189K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q150K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q150K|SYNJ1_ENST00000382499.2_Missense_Mutation_p.Q189K			O43426	SYNJ1_HUMAN	synaptojanin 1	150	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCTGTTCTTGCATGCTACGA	0.363																																					p.Q189K													.	SYNJ1	253	0			c.C565A						.						58	58	58					21																	34072179		2203	4300	6503	SO:0001583	missense	8867	exon4			GTTCTTGCATGCT	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.448C>A	21.37:g.34072179G>T	ENSP00000322234:p.Gln150Lys	33	0		27	3	NM_203446	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726951	0.30593	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.6	5.6	0.85130	Synaptojanin, N-terminal (2);	0.059685	0.64402	D	0.000002	T	0.45256	0.1333	L	0.51422	1.61	0.51233	D	0.999917	B;B;B;B;P	0.39022	0.014;0.027;0.035;0.073;0.655	B;B;B;B;B	0.30855	0.029;0.038;0.027;0.065;0.121	T	0.40308	-0.9570	10	0.15952	T	0.53	.	19.6209	0.95654	0.0:0.0:1.0:0.0	.	150;189;150;150;150	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	K	150;150;189;189;150;150;150	ENSP00000371931:Q150K;ENSP00000349903:Q150K;ENSP00000371939:Q189K;ENSP00000409667:Q189K;ENSP00000322234:Q150K;ENSP00000413649:Q150K;ENSP00000412707:Q150K	ENSP00000322234:Q150K	Q	-	1	0	SYNJ1	32994050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.000000	0.57039	2.646000	0.89796	0.585000	0.79938	CAA	.		0.363	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	34072179	G	T	34072179	3	4	6	1	0	0	0	0	1	0	0	0	15499	1328	46	3	4423	3	SYNJ1	21	34072179	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09		34072179	14057716	280	941											
COL18A1	80781	hgsc.bcm.edu	37	21	46932175	46932175	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr21:46932175C>T	ENST00000359759.4	+	41	5149	c.5128C>T	c.(5128-5130)Cgg>Tgg	p.R1710W	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.R1475W|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1295W			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1710	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)		TGAGACGTGGCGGACGGAGGC	0.701																																					p.R1472W		.											.	.	.	0			c.C4414T						.						18	23	22					21																	46932175		2092	4189	6281	SO:0001583	missense	80781	exon42			ACGTGGCGGACGG		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.5128C>T	21.37:g.46932175C>T	ENSP00000352798:p.Arg1710Trp	42	0		34	4	NM_030582	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		.	.	.	.	.	.	.	.	.	.	C	19.17	3.776640	0.70107	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.36	1.35	0.21983	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.068562	0.56097	U	0.000024	T	0.72827	0.3509	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.991;0.99;0.983	T	0.75368	-0.3342	10	0.87932	D	0	.	12.2931	0.54829	0.4401:0.5599:0.0:0.0	.	1710;1292;1475;1295	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	W	1295;1295;1475;1710;1710;643	ENSP00000383191:R1295W;ENSP00000347665:R1475W;ENSP00000352798:R1710W;ENSP00000339118:R643W	ENSP00000339118:R643W	R	+	1	2	COL18A1	45756603	0.991000	0.36638	0.750000	0.31169	0.415000	0.31203	0.313000	0.19415	0.043000	0.15746	0.478000	0.44815	CGG	.		0.701	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			T	46932175	C	T	46932175	3	4	6	1	0	0	0	0	1	0	0	0	3682	759	27	1	5399	1	COL18A1	21	46932175	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	12859996	46932175	1197720	281	942											
COL6A1	1291	broad.mit.edu	37	21	47421295	47421295	+	Missense_Mutation	SNP	G	G	C			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr21:47421295G>C	ENST00000361866.3	+	30	2065	c.1951G>C	c.(1951-1953)Gtc>Ctc	p.V651L	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	651	C-terminal globular domain.|VWFA 2. {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)		GGACGAGCTGGTCAAGGTGAG	0.672																																					p.V651L													.	COL6A1	101	0			c.G1951C						.						90	95	93					21																	47421295		2203	4300	6503	SO:0001583	missense	1291	exon30			GAGCTGGTCAAGG	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.1951G>C	21.37:g.47421295G>C	ENSP00000355180:p.Val651Leu	26	0		10	3	NM_001848	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899105	0.33535	.	.	ENSG00000142156	ENST00000361866	T	0.77489	-1.1	5.2	5.2	0.72013	von Willebrand factor, type A (3);	0.078334	0.50627	D	0.000116	T	0.71204	0.3312	L	0.45581	1.43	0.58432	D	0.999996	P	0.36199	0.543	B	0.34991	0.193	T	0.68577	-0.5372	10	0.11182	T	0.66	-30.3983	18.7225	0.91700	0.0:0.0:1.0:0.0	.	651	P12109	CO6A1_HUMAN	L	651	ENSP00000355180:V651L	ENSP00000355180:V651L	V	+	1	0	COL6A1	46245723	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.343000	0.65976	2.432000	0.82394	0.544000	0.68410	GTC	.		0.672	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		C	47421295	G	C	47421295	3	2	6	1	0	0	0	0	1	0	0	0	3706	1261	44	5	2069	5	COL6A1	21	47421295	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	489120	47421295	708600	282	943											
CLTCL1	8218	bcgsc.ca	37	22	19226799	19226799	+	Splice_Site	SNP	T	T	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr22:19226799T>A	ENST00000263200.10	-	5	866	c.794A>T	c.(793-795)cAg>cTg	p.Q265L	CLTCL1_ENST00000427926.1_Splice_Site_p.Q265L|CLTCL1_ENST00000353891.5_Splice_Site_p.Q265L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	265	Globular terminal domain.|WD40-like repeat 6.				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)					CATTCGTACCTGCATAGCCAC	0.453			T	?	ALCL																																p.Q265L				Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	CLTCL1	115	0			c.A794T						.						159	161	160					22																	19226799		1956	4150	6106	SO:0001630	splice_region_variant	8218	exon5			CGTACCTGCATAG		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.795+1A>T	22.37:g.19226799T>A		54	0		55	4	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427494	0.83667	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23348	1.91;1.91;1.91	3.91	3.91	0.45181	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.64402	D	0.000002	T	0.52533	0.1740	M	0.86268	2.805	0.80722	D	1	D;P	0.71674	0.998;0.715	D;P	0.71870	0.975;0.707	T	0.60722	-0.7207	10	0.62326	D	0.03	-14.1056	12.9043	0.58143	0.0:0.0:0.0:1.0	.	265;265	P53675-2;P53675	.;CLH2_HUMAN	L	265	ENSP00000439662:Q265L;ENSP00000445677:Q265L;ENSP00000441158:Q265L	ENSP00000445677:Q265L	Q	-	2	0	CLTCL1	17606799	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.915000	0.75770	1.626000	0.50381	0.482000	0.46254	CAG	.		0.453	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	Missense_Mutation	A	19226799	T	A	19226799	5	1	6	1	0	0	0	0	0	0	1	0	3574	1594	55	5	4240	5	CLTCL1	22	19226799	Splice_Site	SNP	T	TCGA-4G-AAZO-01A-12D-A417-09		19226799	32077767	283	944											
DGCR8	54487	hgsc.bcm.edu	37	22	20073625	20073625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr22:20073625G>T	ENST00000351989.3	+	2	568	c.139G>T	c.(139-141)Gag>Tag	p.E47*	MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.E47*|DGCR8_ENST00000383024.2_Nonsense_Mutation_p.E47*|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	47	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				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)	p.E47Q(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAGTGGTGCAGAGGTAATGGA	0.602																																					p.E47X		.											DGCR8,NS,NS,0,1	DGCR8	0	1	Substitution - Missense(1)	NS(1)	c.G139T						.						70	70	70					22																	20073625		2203	4300	6503	SO:0001587	stop_gained	54487	exon2			GGTGCAGAGGTAA	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.139G>T	22.37:g.20073625G>T	ENSP00000263209:p.Glu47*	47	0		38	2	NM_001190326	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Nonsense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	40	7.951099	0.98577	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000457069;ENST00000407755	.	.	.	5.28	5.28	0.74379	.	0.046440	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.4852	18.6866	0.91567	0.0:0.0:1.0:0.0	.	.	.	.	X	47	.	ENSP00000263209:E47X	E	+	1	0	DGCR8	18453625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.231000	0.95317	2.739000	0.93911	0.491000	0.48974	GAG	.		0.602	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			T	20073625	G	T	20073625	4	4	6	1	0	0	0	0	0	1	0	0	4478	943	33	3	141	3	DGCR8	22	20073625	Nonsense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	846826	20073625	31230941	284	945											
NEFH	4744	hgsc.bcm.edu	37	22	29885823	29885823	+	Missense_Mutation	SNP	A	A	T	rs145125701		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	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		.											NEFH,NS,lymphoid_neoplasm,0,2	NEFH	0	0			c.A2194T						.						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	67	0		78	4	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	.		0.542	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885823	A	T	29885823	3	4	6	1	0	0	0	0	1	0	0	0	10353	275	10	5	2208	5	NEFH	22	29885823	Missense_Mutation	SNP	A	TCGA-4G-AAZO-01A-12D-A417-09	9812198	29885823	21418743	285	946											
DDX17	11015	ucsc.edu;bcgsc.ca	37	22	38881994	38881994	+	IGR	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr22:38881994C>A	ENST00000216014.4	+	0	1728				DDX17_ENST00000381633.3_Missense_Mutation_p.Q635H|DDX17_ENST00000396821.3_Missense_Mutation_p.Q714H|DDX17_ENST00000444597.1_Missense_Mutation_p.Q164H	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						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 retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GGTAGGCAGTCTGCCCCATGT	0.512																																					p.Q714H	Ovarian(11;103 529 24120 28493 32980)												.	DDX17	73	0			c.G2142T						.						179	161	167					22																	38881994		2203	4300	6503	SO:0001628	intergenic_variant	10521	exon13			GGCAGTCTGCCCC	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881994C>A		26	0		27	4	NM_001098504	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450539	0.26074	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230	T;T;T	0.28454	1.61;1.63;1.61	5.42	5.42	0.78866	.	0.000000	0.45361	D	0.000363	T	0.42131	0.1189	N	0.19112	0.55	0.38886	D	0.957009	D;D	0.62365	0.987;0.991	P;D	0.71870	0.775;0.975	T	0.37314	-0.9711	10	0.38643	T	0.18	-9.0628	19.2201	0.93793	0.0:1.0:0.0:0.0	.	712;166	Q92841-4;Q9UQL5	.;.	H	714;635;166;164;712	ENSP00000380033:Q714H;ENSP00000371046:Q635H;ENSP00000385536:Q712H	ENSP00000371046:Q635H	Q	-	3	2	DDX17	37211940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.929000	0.28844	2.524000	0.85096	0.655000	0.94253	CAG	.		0.512	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			A	38881994	C	A	38881994	1	1	6	0	1	0	0	0	0	0	0	0	4353	912	32	3		3	DDX17	22	38881994	IGR	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	8996171	38881994	12422572	286	947											
DMC1	11144	ucsc.edu;bcgsc.ca	37	22	38917699	38917699	+	Silent	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chr22:38917699C>A	ENST00000216024.2	-	13	1143	c.867G>T	c.(865-867)ggG>ggT	p.G289G	DMC1_ENST00000428462.2_Silent_p.G234G	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	289					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GAATGTGTCCCCCAATGGGTT	0.373								Homologous recombination																													p.G289G													.	DMC1	33	0			c.G867T						.						115	111	112					22																	38917699		2203	4300	6503	SO:0001819	synonymous_variant	11144	exon13			GTGTCCCCCAATG	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.867G>T	22.37:g.38917699C>A		31	0		31	4	NM_007068	A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	CCDS13973.1																																																																																			.		0.373	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		A	38917699	C	A	38917699	2	1	6	1	0	0	0	0	0	0	0	1	4593	610	22	3		3	DMC1	22	38917699	Silent	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	35705	38917699	12386867	287	948											
MID1	4281	hgsc.bcm.edu;bcgsc.ca	37	X	10422989	10422989	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:10422989C>A	ENST00000317552.4	-	9	1976	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	MID1_ENST00000380785.1_Missense_Mutation_p.G526W|MID1_ENST00000380787.1_Missense_Mutation_p.G526W|MID1_ENST00000380779.1_Missense_Mutation_p.G526W|MID1_ENST00000380780.1_Missense_Mutation_p.G526W|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Missense_Mutation_p.G526W|MID1_ENST00000453318.2_Missense_Mutation_p.G526W	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	526	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCATAGCTCCCCTGGCTGGTG	0.448																																					p.G526W		.											.	.	.	0			c.G1576T						.						193	141	159					X																	10422989		2203	4300	6503	SO:0001583	missense	4281	exon9			AGCTCCCCTGGCT	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1576G>T	X.37:g.10422989C>A	ENSP00000312678:p.Gly526Trp	99	0		69	5	NM_001193277	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909504	0.72868	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.76	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.102387	0.64402	N	0.000002	T	0.69115	0.3075	L	0.51422	1.61	0.54753	D	0.999981	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.74348	0.983;0.983;0.928	T	0.67711	-0.5600	10	0.38643	T	0.18	.	13.8155	0.63290	0.0:0.9252:0.0:0.0748	.	526;526;476	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	W	526;526;526;526;526;526;526;476	ENSP00000414521:G526W;ENSP00000312678:G526W;ENSP00000370162:G526W;ENSP00000370156:G526W;ENSP00000370164:G526W;ENSP00000370157:G526W;ENSP00000370159:G526W	ENSP00000312678:G526W	G	-	1	0	MID1	10382989	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.328000	0.59253	1.208000	0.43306	0.600000	0.82982	GGG	.		0.448	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			A	10422989	C	A	10422989	3	1	6	1	0	0	0	0	1	0	0	0	9614	623	22	3	435	3	MID1	23	10422989	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09		10422989	144847571	288	949											
TLR8	51311	hgsc.bcm.edu	37	X	12939080	12939080	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:12939080C>A	ENST00000218032.6	+	2	2008	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	TLR8_ENST00000311912.5_Missense_Mutation_p.L659M	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	641					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)	TCTCAAGAATCTGACACGTCT	0.393																																					p.L641M		.											.	.	.	0			c.C1921A						.						60	60	60					X																	12939080		2203	4296	6499	SO:0001583	missense	51311	exon2			AAGAATCTGACAC	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.1921C>A	X.37:g.12939080C>A	ENSP00000218032:p.Leu641Met	92	0		89	4	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609822	0.14066	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	D;D	0.82526	-1.62;-1.62	5.82	3.74	0.42951	.	0.000000	0.31884	N	0.006912	D	0.90239	0.6948	M	0.89095	3.005	0.25520	N	0.987371	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82026	-0.0661	10	0.87932	D	0	.	5.5248	0.16953	0.147:0.5574:0.0:0.2957	.	641;659	Q9NR97;D1CS70	TLR8_HUMAN;.	M	641;659	ENSP00000218032:L641M;ENSP00000312082:L659M	ENSP00000218032:L641M	L	+	1	2	TLR8	12849001	0.040000	0.19996	0.030000	0.17652	0.014000	0.08584	0.366000	0.20365	1.225000	0.43566	0.600000	0.82982	CTG	.		0.393	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		A	12939080	C	A	12939080	3	1	6	1	0	0	0	0	1	0	0	0	16004	912	32	3	1927	3	TLR8	23	12939080	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	2516091	12939080	142331480	289	950											
GPM6B	2824	hgsc.bcm.edu;bcgsc.ca	37	X	13801543	13801543	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:13801543C>A	ENST00000356942.5	-	3	787	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	GPM6B_ENST00000398361.3_Missense_Mutation_p.V30L|GPM6B_ENST00000316715.4_Missense_Mutation_p.V156L|GPM6B_ENST00000493677.1_Missense_Mutation_p.V130L|GPM6B_ENST00000454189.2_Missense_Mutation_p.V97L|GPM6B_ENST00000355135.2_Missense_Mutation_p.V156L	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	116					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						AGTTCTTTCACTGCACTTGTG	0.423																																					p.V156L		.											.	.	.	0			c.G466T						.						161	136	144					X																	13801543		2203	4300	6503	SO:0001583	missense	2824	exon4			CTTTCACTGCACT		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.346G>T	X.37:g.13801543C>A	ENSP00000349420:p.Val116Leu	71	0		66	4	NM_001001995	O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076491	0.94000	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000398361;ENST00000495211;ENST00000493085;ENST00000468080	D;D;D;D;D;D;D;D;D	0.99405	-5.84;-5.84;-5.84;-5.84;-5.84;-5.84;-5.84;-5.84;-5.84	5.16	5.16	0.70880	.	0.110151	0.64402	D	0.000009	D	0.99230	0.9732	M	0.77820	2.39	0.80722	D	1	P;P;P;P;P;P	0.52692	0.888;0.69;0.934;0.619;0.955;0.934	P;B;P;B;P;P	0.51701	0.583;0.316;0.544;0.381;0.658;0.677	D	0.99482	1.0948	10	0.62326	D	0.03	-5.9222	18.0423	0.89322	0.0:1.0:0.0:0.0	.	130;97;116;156;108;156	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	L	156;97;130;156;116;30;81;30;30	ENSP00000316861:V156L;ENSP00000389915:V97L;ENSP00000419904:V130L;ENSP00000347258:V156L;ENSP00000349420:V116L;ENSP00000381402:V30L;ENSP00000419409:V81L;ENSP00000418199:V30L;ENSP00000419779:V30L	ENSP00000316861:V156L	V	-	1	0	GPM6B	13711464	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	5.658000	0.68003	2.283000	0.76528	0.600000	0.82982	GTG	.		0.423	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		A	13801543	C	A	13801543	3	1	6	1	0	0	0	0	1	0	0	0	6642	565	20	3	625	3	GPM6B	23	13801543	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	862463	13801543	141469017	290	951											
DCAF8L2	347442	hgsc.bcm.edu;bcgsc.ca	37	X	27765742	27765742	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:27765742G>T	ENST00000451261.2	+	5	1129	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	244										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CACCCGGCTGGCCAGTAGCGG	0.532																																					p.A244S		.											.	.	.	0			c.G730T						.						104	78	86					X																	27765742		692	1591	2283	SO:0001583	missense	347442	exon1			CGGCTGGCCAGTA		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.730G>T	X.37:g.27765742G>T	ENSP00000462745:p.Ala244Ser	52	0		43	4	NM_001136533	B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.		0.532	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		T	27765742	G	T	27765742	3	4	6	1	0	0	0	0	1	0	0	0	4287	1203	42	3	732	3	DCAF8L2	23	27765742	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	13964199	27765742	127504818	291	952											
DMD	1756	bcgsc.ca	37	X	32519901	32519901	+	Missense_Mutation	SNP	G	G	T	rs1800260		TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:32519901G>T	ENST00000357033.4	-	19	2557	c.2351C>A	c.(2350-2352)gCt>gAt	p.A784D	DMD_ENST00000378677.2_Missense_Mutation_p.A780D	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	784			A -> G (in dbSNP:rs1800260). {ECO:0000269|PubMed:2668885}.		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)				CAGGGCCTGAGCTGATCTGCT	0.408																																					p.A784D													.	DMD	2127	0			c.C2351A						.						101	82	88					X																	32519901		2202	4300	6502	SO:0001583	missense	1756	exon19			GCCTGAGCTGATC	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.2351C>A	X.37:g.32519901G>T	ENSP00000354923:p.Ala784Asp	26	0		24	3	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367915	0.82463	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.57907	0.37;0.37	5.35	5.35	0.76521	.	0.000000	0.34725	U	0.003721	T	0.66934	0.2840	M	0.63428	1.95	0.80722	D	1	D;B;D	0.56746	0.971;0.285;0.977	P;B;P	0.57057	0.714;0.171;0.812	T	0.70730	-0.4792	10	0.72032	D	0.01	.	18.2209	0.89901	0.0:0.0:1.0:0.0	.	776;784;780	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	D	776;780;784;784;661	ENSP00000367948:A780D;ENSP00000354923:A784D	ENSP00000354923:A784D	A	-	2	0	DMD	32429822	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.830000	0.69324	2.241000	0.73720	0.544000	0.68410	GCT	G|1.000;|0.000		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32519901	G	T	32519901	3	4	6	1	0	0	0	0	1	0	0	0	4594	971	34	3	9193	3	DMD	23	32519901	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	4754159	32519901	122750659	292	953											
CFP	5199	hgsc.bcm.edu	37	X	47487614	47487614	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:47487614G>T	ENST00000396992.3	-	3	410	c.290C>A	c.(289-291)tCc>tAc	p.S97Y	CFP_ENST00000377005.2_Missense_Mutation_p.S97Y|CFP_ENST00000247153.3_Missense_Mutation_p.S97Y|CFP_ENST00000480317.1_5'UTR	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	97	TSP type-1 1. {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						CCGCAGCTGGGAGCCCTCAGA	0.647																																					p.S97Y		.											.	.	.	0			c.C290A						.						45	39	41					X																	47487614		2203	4300	6503	SO:0001583	missense	5199	exon3			AGCTGGGAGCCCT	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.290C>A	X.37:g.47487614G>T	ENSP00000380189:p.Ser97Tyr	74	0		48	4	NM_001145252	O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109120	0.77096	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.56103	0.48;0.48;0.48	5.97	5.97	0.96955	.	0.127200	0.56097	D	0.000028	T	0.64382	0.2593	L	0.46670	1.46	0.40990	D	0.984841	D;D	0.89917	0.995;1.0	D;D	0.91635	0.97;0.999	T	0.59172	-0.7504	10	0.20046	T	0.44	.	14.562	0.68148	0.0:0.0:1.0:0.0	.	33;97	B3KVK6;P27918	.;PROP_HUMAN	Y	97	ENSP00000380189:S97Y;ENSP00000247153:S97Y;ENSP00000366204:S97Y	ENSP00000247153:S97Y	S	-	2	0	CFP	47372558	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.847000	0.48270	2.517000	0.84864	0.600000	0.82982	TCC	.		0.647	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		T	47487614	G	T	47487614	3	4	6	1	0	0	0	0	1	0	0	0	3300	1174	41	3	1147	3	CFP	23	47487614	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	14967713	47487614	107782946	293	954											
XAGE3	170626	hgsc.bcm.edu;bcgsc.ca	37	X	52893907	52893907	+	Silent	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:52893907G>T	ENST00000346279.3	-	4	280	c.210C>A	c.(208-210)ctC>ctA	p.L70L	XAGE3_ENST00000375491.3_Silent_p.L70L	NM_133179.2	NP_573440.1	Q8WTP9	XAGE3_HUMAN	X antigen family, member 3	70										kidney(1)|large_intestine(1)|lung(2)	4						ACAGCTCCTGGAGATCAGCTT	0.413																																					p.L70L		.											.	.	.	0			c.C210A						.						61	57	58					X																	52893907		2203	4299	6502	SO:0001819	synonymous_variant	170626	exon4			CTCCTGGAGATCA	BG354572	CCDS14347.1	Xp11.22	2010-09-27	2004-06-07	2005-01-27	ENSG00000171402	ENSG00000171402			14618	protein-coding gene	gene with protein product	"cancer/testis antigen family 12, member 3a", "cancer/testis antigen family 12, member 3b"	300740	"placenta-specific 6; G antigen, family D, 4"	PLAC6, GAGED4			Standard	NM_133179		Approved	XAGE-3, pp9012, CT12.3a, CT12.3b	uc004dre.3	Q8WTP9	OTTHUMG00000021587	ENST00000346279.3:c.210C>A	X.37:g.52893907G>T		105	0		98	5	NM_133179	Q5JS82|Q8WYS9	Silent	SNP	ENST00000346279.3	37	CCDS14347.1																																																																																			.		0.413	XAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056686.1	NM_133179		T	52893907	G	T	52893907	2	4	6	1	0	0	0	0	0	0	0	1	17469	1161	41	3		3	XAGE3	23	52893907	Silent	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	5406293	52893907	102376653	294	955											
SATL1	340562	hgsc.bcm.edu;bcgsc.ca	37	X	84358922	84358922	+	Splice_Site	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:84358922C>A	ENST00000395409.3	-	2	1641		c.e2-1		SATL1_ENST00000332921.5_Splice_Site|SATL1_ENST00000509231.1_Splice_Site			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CAGCCAATTCCTGTCAAAGTA	0.323																																					.		.											.	.	.	0			c.1642-1G>T						.						105	85	92					X																	84358922		2203	4300	6503	SO:0001630	splice_region_variant	340562	exon3			CAATTCCTGTCAA	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1081-1G>T	X.37:g.84358922C>A		91	0		69	4	NM_001012980	A0AVK7|E9PB72|Q5H8V9	Splice_Site	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	C	16.14	3.038662	0.55003	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	5.26	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1137	0.36744	0.0:0.8963:0.0:0.1037	.	.	.	.	.	-1	.	.	.	-	.	.	SATL1	84245578	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.096000	0.41738	1.011000	0.39340	0.556000	0.70494	.	.		0.323	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	Intron	A	84358922	C	A	84358922	5	1	6	1	0	0	0	0	0	0	1	0	13900	695	24	3	273	3	SATL1	23	84358922	Splice_Site	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	31465015	84358922	70911638	295	956											
TRPC5	7224	bcgsc.ca	37	X	111155896	111155896	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:111155896G>T	ENST00000262839.2	-	3	1441	c.523C>A	c.(523-525)Cgc>Agc	p.R175S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	175					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						CAGTTGCAGCGGATCTGGTGG	0.542																																					p.R175S													.	TRPC5	142	0			c.C523A						.						111	98	102					X																	111155896		2203	4300	6503	SO:0001583	missense	7224	exon3			TGCAGCGGATCTG	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.523C>A	X.37:g.111155896G>T	ENSP00000262839:p.Arg175Ser	22	0		14	3	NM_012471	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073284	0.76415	.	.	ENSG00000072315	ENST00000262839	T	0.69561	-0.41	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.35723	1.085	0.80722	D	1	D;D	0.76494	0.966;0.999	P;D	0.68765	0.838;0.96	T	0.71800	-0.4483	10	0.38643	T	0.18	-16.5029	14.0073	0.64473	0.0:0.0:0.8391:0.1609	.	176;175	Q59G51;Q9UL62	.;TRPC5_HUMAN	S	175	ENSP00000262839:R175S	ENSP00000262839:R175S	R	-	1	0	TRPC5	111042552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.664000	0.83830	2.260000	0.74910	0.529000	0.55759	CGC	.		0.542	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		T	111155896	G	T	111155896	3	4	6	1	0	0	0	0	1	0	0	0	16630	1116	39	2	2434	2	TRPC5	23	111155896	Missense_Mutation	SNP	G	TCGA-4G-AAZO-01A-12D-A417-09	26796974	111155896	44114664	296	957											
RBMX	27316	hgsc.bcm.edu;bcgsc.ca	37	X	135958731	135958731	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:135958731C>A	ENST00000320676.7	-	5	626	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W	RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000570135.1_Missense_Mutation_p.G23W|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_Missense_Mutation_p.G158W|RBMX_ENST00000565438.1_Missense_Mutation_p.G30W	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	158					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGAGGACCCCCACTTCTTGGT	0.453																																					p.G158W		.											.	.	.	0			c.G472T						.						117	108	111					X																	135958731		2203	4300	6503	SO:0001583	missense	27316	exon5			GACCCCCACTTCT		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.472G>T	X.37:g.135958731C>A	ENSP00000359645:p.Gly158Trp	73	0		73	4	NM_002139	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	26.2	4.716947	0.89205	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.79352	-1.26	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	D	0.84079	0.5393	L	0.46741	1.465	0.80722	D	1	D;D	0.65815	0.992;0.995	P;D	0.63957	0.711;0.92	D	0.84616	0.0681	10	0.51188	T	0.08	.	18.3251	0.90251	0.0:1.0:0.0:0.0	.	158;145	P38159;Q8N8Y7	HNRPG_HUMAN;.	W	158;145	ENSP00000359645:G158W	ENSP00000359645:G158W	G	-	1	0	RBMX	135786397	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	6.819000	0.75262	2.267000	0.75376	0.504000	0.49776	GGG	.		0.453	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		A	135958731	C	A	135958731	3	1	6	1	0	0	0	0	1	0	0	0	13196	594	21	3	778	3	RBMX	23	135958731	Missense_Mutation	SNP	C	TCGA-4G-AAZO-01A-12D-A417-09	24802835	135958731	19311829	297	958											
ZNF185	7739	hgsc.bcm.edu	37	X	152085855	152085856	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-4G-AAZO-01A-12D-A417-09	TCGA-4G-AAZO-11A-11D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9aa164bc-bd5d-43fc-b0df-49a1eb05c6ab	48de3d5a-35d8-456d-a23e-e2dc25a840ac	g.chrX:152085855_152085856insTA	ENST00000370268.4	+	5	327_328	c.290_291insTA	c.(289-294)agctctfs	p.S98fs	ZNF185_ENST00000539731.1_Frame_Shift_Ins_p.S98fs|ZNF185_ENST00000318529.8_5'Flank|ZNF185_ENST00000449285.2_Frame_Shift_Ins_p.S98fs|ZNF185_ENST00000318504.7_Frame_Shift_Ins_p.S98fs|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370270.2_Frame_Shift_Ins_p.S98fs|ZNF185_ENST00000535861.1_Frame_Shift_Ins_p.S98fs			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	98						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATAGACAGCTCTTCCCAGC	0.619																																					p.S97fs		.											.	.	.	0			c.290_291insTA						.																																			SO:0001589	frameshift_variant	7739	exon5			TAGACAGCTCTTC	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	Exception_encountered	X.37:g.152085855_152085856insTA	ENSP00000359291:p.Ser98fs	58	0		53	25	NM_001178106	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Frame_Shift_Ins	INS	ENST00000370268.4	37	CCDS48184.1																																																																																			.		0.619	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		TA	152085856	-	TA	152085855	7	5	6	1	0	1	1	0	0	0	0	0	17800	971	34	0	308	0	ZNF185	23	152085855	Frame_Shift_Ins	INS	-	TCGA-4G-AAZO-01A-12D-A417-09	16127124	152085855	3184705	298	959											
KIAA1751	85452	hgsc.bcm.edu	37	1	1920371	1920371	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:1920371G>T	ENST00000434971.2	-	3	141	c.109C>A	c.(109-111)Ctt>Att	p.L37I				Q69YW0	CA222_HUMAN		263										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)		TCCTGTAGAAGACATTTGATG	0.498																																					p.L37I		.											KIAA1751,NS,carcinoma,0,1	KIAA1751	0	0			c.C109A						.						53	56	55					1																	1920371		1850	4087	5937	SO:0001583	missense	85452	exon3			GTAGAAGACATTT																												ENST00000434971.2:c.109C>A	1.37:g.1920371G>T	ENSP00000408078:p.Leu37Ile	67	0		64	2	NM_001080484		Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	g	7.632	0.679098	0.14907	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.52057	0.68;0.69	3.4	0.295	0.15752	.	.	.	.	.	T	0.29423	0.0733	N	0.24115	0.695	0.09310	N	1	B;B	0.18968	0.032;0.032	B;B	0.19391	0.025;0.009	T	0.20472	-1.0274	9	0.35671	T	0.21	.	5.4572	0.16598	0.1223:0.4338:0.4439:0.0	.	37;37	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	I	37;28;37	ENSP00000367853:L28I;ENSP00000408078:L37I	ENSP00000270720:L37I	L	-	1	0	C1orf222	1910231	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.582000	0.05814	0.083000	0.17047	0.632000	0.83419	CTT	.		0.498	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				T	1920371	G	T	1920371	3	4	7	1	0	0	0	0	1	0	0	0	8283	942	33	3	2243	3	KIAA1751	1	1920371	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		1920371	247330250	1	960											
TNFRSF14	8764	hgsc.bcm.edu	37	1	2493248	2493248	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:2493248C>T	ENST00000355716.4	+	6	987	c.688C>T	c.(688-690)Cca>Tca	p.P230S		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	230					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)		AAGAAGAAAGCCAAGGGGTGA	0.577			"Mis, N, F"		follicular lymphoma																																p.P230S		.		Rec	yes		1	1p36.32	8764	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"		L	.	.	.	0			c.C688T						.						109	106	107					1																	2493248		2203	4300	6503	SO:0001583	missense	8764	exon6			AGAAAGCCAAGGG	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.688C>T	1.37:g.2493248C>T	ENSP00000347948:p.Pro230Ser	73	0		76	4	NM_003820	B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.671986	0.00104	.	.	ENSG00000157873	ENST00000434817;ENST00000435221;ENST00000451778;ENST00000355716	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.05	1.99	-3.97	0.04094	.	.	.	.	.	T	0.66925	0.2839	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53222	-0.8469	9	0.07175	T	0.84	3.559	7.6505	0.28346	0.159:0.6361:0.0:0.2049	.	230	Q92956	TNR14_HUMAN	S	230	ENSP00000415254:P230S;ENSP00000399292:P230S;ENSP00000399533:P230S;ENSP00000347948:P230S	ENSP00000347948:P230S	P	+	1	0	TNFRSF14	2481170	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.965000	0.00165	-2.594000	0.00455	-1.786000	0.00637	CCA	.		0.577	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			T	2493248	C	T	2493248	3	4	7	1	0	0	0	0	1	0	0	0	16336	739	26	3	710	3	TNFRSF14	1	2493248	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	572877	2493248	246757373	2	961											
RSC1A1	6248	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	15987540	15987540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:15987540delA	ENST00000345034.1	+	1	1177	c.1177delA	c.(1177-1179)aaafs	p.K393fs	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	393					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)		AACCAGTATTAAAGACCTTTC	0.408																																					p.I392fs		.											.	.	.	0			c.1176delT						.						59	57	58					1																	15987540		2203	4300	6503	SO:0001589	frameshift_variant	6248	exon1			AGTATTAAAGACC	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.1177delA	1.37:g.15987540delA	ENSP00000341963:p.Lys393fs	41	0		38	14	NM_006511	B2RBP5	Frame_Shift_Del	DEL	ENST00000345034.1	37	CCDS161.1																																																																																			.		0.408	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		-	15987540	A	-	15987540	7	5	7	1	0	1	0	1	0	0	0	0	13743	363	13	0	1179	0	RSC1A1	1	15987540	Frame_Shift_Del	DEL	A	TCGA-4G-AAZT-01A-11D-A417-09	13494292	15987540	233263081	3	962											
NBPF1	55672	broad.mit.edu	37	1	16892237	16892237	+	Missense_Mutation	SNP	A	A	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:16892237A>C	ENST00000430580.2	-	27	3842	c.2955T>G	c.(2953-2955)tgT>tgG	p.C985W		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	985	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGTTGAATAACATCTATCCA	0.473																																					.													.	.	.	0			.						.						26	22	23					1																	16892237		1485	2604	4089	SO:0001583	missense	55672	.			TGAATAACATCTA	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2955T>G	1.37:g.16892237A>C	ENSP00000474456:p.Cys985Trp	50	0		48	6	.	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																				.		0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		C	16892237	A	C	16892237	3	2	7	1	0	0	0	0	1	0	0	0	10230	41	2	4	476	4	NBPF1	1	16892237	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	904697	16892237	232358384	4	963											
ARID1A	8289	broad.mit.edu	37	1	27099298	27099318	+	Splice_Site	DEL	TGGAGCAGGAGCAATTCAGTT	TGGAGCAGGAGCAATTCAGTT	-	rs536241439|rs138311127		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:27099298_27099318delTGGAGCAGGAGCAATTCAGTT	ENST00000324856.7	+	14	3910_3926	c.3539_3555delTGGAGCAGGAGCAATTCAGTT	c.(3538-3555)atggagcaggagcaattc>a	p.MEQEQF1180del	ARID1A_ENST00000374152.2_Splice_Site_p.MEQEQF797del|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Splice_Site_p.MEQEQF1180del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1180				Missing (in Ref. 10; BAD96995). {ECO:0000305}.	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)		TTCCTCACTCTGGAGCAGGAGCAATTCAGTTGGGATCCAGG	0.484			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.1180_1185del				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	0			c.3540_3555del						.																																			SO:0001630	splice_region_variant	8289	exon14			TCACTCTGGAGCA	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.3540-1TGGAGCAGGAGCAATTCAGTT>-	1.37:g.27099298_27099318delTGGAGCAGGAGCAATTCAGTT		12	0		17	3	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Splice_Site	DEL	ENST00000324856.7	37	CCDS285.1																																																																																			.		0.484	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	In_Frame_Del	-	27099318	TGGAGCAGGAGCAATTCAGTT	-	27099298	8	5	7	1	0	1	0	1	0	0	1	0	913	1595	55	0		0	ARID1A	1	27099298	Splice_Site	DEL	TGGAGCAGGAGCAATTCAGTT	TCGA-4G-AAZT-01A-11D-A417-09	10207061	27099298	222151323	5	964											
YARS	8565	hgsc.bcm.edu	37	1	33246690	33246690	+	Silent	SNP	G	G	T	rs376054085		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:33246690G>T	ENST00000373477.4	-	10	2007	c.1099C>A	c.(1099-1101)Cgg>Agg	p.R367R	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	367	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)	p.R367W(1)		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)	ATATCCAGCCGGGATGGGATG	0.507																																					p.R367R		.											YARS,caecum,carcinoma,0,1	YARS	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1099A						.						135	123	127					1																	33246690		2203	4300	6503	SO:0001819	synonymous_variant	8565	exon10			CCAGCCGGGATGG	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.1099C>A	1.37:g.33246690G>T		34	0		50	2	NM_003680	B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	CCDS368.1																																																																																			.		0.507	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		T	33246690	G	T	33246690	2	4	7	1	0	0	0	0	0	0	0	1	17516	1115	39	2		2	YARS	1	33246690	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	6147392	33246690	216003931	6	965											
MMACHC	25974	hgsc.bcm.edu	37	1	45966021	45966021	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:45966021C>T	ENST00000401061.4	+	1	297	c.17C>T	c.(16-18)gCa>gTa	p.A6V	CCDC163P_ENST00000490551.3_5'Flank|CCDC163P_ENST00000432082.1_5'Flank|CCDC163P_ENST00000488405.2_5'Flank|CCDC163P_ENST00000502793.2_5'Flank	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	6					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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGAAAGTCGCAGAGCTGAAG	0.512																																					p.A6V		.											.	.	.	0			c.C17T						.						212	210	211					1																	45966021		2005	4171	6176	SO:0001583	missense	25974	exon1			AAGTCGCAGAGCT		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.17C>T	1.37:g.45966021C>T	ENSP00000383840:p.Ala6Val	45	0		88	4	NM_015506	Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866165	0.51588	.	.	ENSG00000132763	ENST00000401061	D	0.95447	-3.71	5.78	4.86	0.63082	.	0.375051	0.29916	N	0.010864	D	0.88310	0.6402	N	0.12471	0.22	0.37881	D	0.930385	B	0.02656	0.0	B	0.04013	0.001	D	0.83981	0.0332	10	0.31617	T	0.26	-9.4106	9.3084	0.37889	0.0:0.8374:0.0:0.1626	.	6	Q9Y4U1	MMAC_HUMAN	V	6	ENSP00000383840:A6V	ENSP00000383840:A6V	A	+	2	0	MMACHC	45738608	0.998000	0.40836	1.000000	0.80357	0.784000	0.44337	2.192000	0.42649	2.744000	0.94065	0.563000	0.77884	GCA	.		0.512	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		T	45966021	C	T	45966021	3	4	7	1	0	0	0	0	1	0	0	0	9679	710	25	3	19	3	MMACHC	1	45966021	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	12719331	45966021	203284600	7	966											
CYP4B1	1580	hgsc.bcm.edu	37	1	47264867	47264867	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:47264867G>A	ENST00000271153.4	+	1	150	c.114G>A	c.(112-114)acG>acA	p.T38T	CYP4B1_ENST00000371919.4_Silent_p.T38T|CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371923.4_Silent_p.T38T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	38					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)	GGAGGCAGACGTTGGCTAAGG	0.582																																					p.T38T		.											CYP4B1,NS,carcinoma,0,1	CYP4B1	0	0			c.G114A						.						68	57	61					1																	47264867		2203	4300	6503	SO:0001819	synonymous_variant	1580	exon1			GCAGACGTTGGCT	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.114G>A	1.37:g.47264867G>A		20	0		29	2	NM_000779	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	CCDS542.1																																																																																			.		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		A	47264867	G	A	47264867	2	1	7	1	0	0	0	0	0	0	0	1	4194	1132	40	1		1	CYP4B1	1	47264867	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	1298846	47264867	201985754	8	967											
CTTNBP2NL	55917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	112999056	112999056	+	Silent	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:112999056A>G	ENST00000271277.6	+	6	1167	c.942A>G	c.(940-942)acA>acG	p.T314T		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	314					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)			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)		TTTGCCAAACAGAGAGTTTTC	0.478																																					p.T314T		.											.	.	.	0			c.A942G						.						129	133	132					1																	112999056		2203	4300	6503	SO:0001819	synonymous_variant	55917	exon6			CCAAACAGAGAGT	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.942A>G	1.37:g.112999056A>G		15	0		20	4	NM_018704	B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	CCDS845.1																																																																																			.		0.478	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		G	112999056	A	G	112999056	2	3	7	1	0	0	0	0	0	0	0	1	4055	175	7	4		4	CTTNBP2NL	1	112999056	Silent	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	65734189	112999056	136251565	9	968											
FLG	2312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	152283924	152283924	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:152283924G>A	ENST00000368799.1	-	3	3473	c.3438C>T	c.(3436-3438)caC>caT	p.H1146H	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	1146	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)			GTGCCTGCTCGTGGTGGGATC	0.602									Ichthyosis																												p.H1146H		.											.	.	.	0			c.C3438T						.						180	217	205					1																	152283924		2203	4296	6499	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGCTCGTGGTGG	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.3438C>T	1.37:g.152283924G>A		51	0		110	44	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283924	G	A	152283924	2	1	7	1	0	0	0	0	0	0	0	1	5944	1136	40	1		1	FLG	1	152283924	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	39284868	152283924	96966697	10	969											
ELF3	1999	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	201980321	201980334	+	Frame_Shift_Del	DEL	CAGCTCGGAGGACT	CAGCTCGGAGGACT	-	rs150188692		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	CAGCTCGGAGGACT	CAGCTCGGAGGACT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:201980321_201980334delCAGCTCGGAGGACT	ENST00000359651.3	+	1	3249_3262	c.57_70delCAGCTCGGAGGACT	c.(55-72)tacagctcggaggactccfs	p.SSEDS20fs	ELF3_ENST00000367284.5_Frame_Shift_Del_p.SSEDS20fs|ELF3_ENST00000367283.3_Frame_Shift_Del_p.SSEDS20fs|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTGCGATGTACAGCTCGGAGGACTCCACCCTGGC	0.565																																					p.19_23del		.											.	.	.	0			c.56_69del						.																																			SO:0001589	frameshift_variant	1999	exon2			GATGTACAGCTCG	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.57_70delCAGCTCGGAGGACT	1.37:g.201980321_201980334delCAGCTCGGAGGACT	ENSP00000352673:p.Ser20fs	28	0		29	10	NM_004433		Frame_Shift_Del	DEL	ENST00000359651.3	37	CCDS1419.1																																																																																			.		0.565	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		-	201980334	CAGCTCGGAGGACT	-	201980321	7	5	7	1	0	1	0	1	0	0	0	0	5071	489	17	0	59	0	ELF3	1	201980321	Frame_Shift_Del	DEL	CAGCTCGGAGGACT	TCGA-4G-AAZT-01A-11D-A417-09	49696397	201980321	47270300	11	970											
CAMK1G	57172	hgsc.bcm.edu	37	1	209785272	209785272	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:209785272C>A	ENST00000009105.1	+	11	1296	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.P351T			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	351						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ACCCAGCTCCCCTGAGATCAC	0.632																																					p.P351T	Ovarian(163;530 1939 9680 28669 48710)	.											CAMK1G,NS,malignant_melanoma,0,1	CAMK1G	0	0			c.C1051A						.						90	95	93					1																	209785272		2203	4300	6503	SO:0001583	missense	57172	exon11			AGCTCCCCTGAGA		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1051C>A	1.37:g.209785272C>A	ENSP00000009105:p.Pro351Thr	37	0		42	2	NM_020439	Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259795	0.59321	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.67865	-0.29;-0.29	5.46	4.53	0.55603	.	0.226746	0.31370	N	0.007766	T	0.54515	0.1863	L	0.27053	0.805	0.47905	D	0.999547	B;B	0.24132	0.098;0.0	B;B	0.23852	0.049;0.001	T	0.53599	-0.8416	10	0.54805	T	0.06	.	13.468	0.61266	0.0:0.9222:0.0:0.0778	.	351;351	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	T	351	ENSP00000009105:P351T;ENSP00000354861:P351T	ENSP00000009105:P351T	P	+	1	0	CAMK1G	207851895	0.026000	0.19158	0.996000	0.52242	0.978000	0.69477	2.148000	0.42235	1.254000	0.44035	0.558000	0.71614	CCT	.		0.632	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		A	209785272	C	A	209785272	3	1	7	1	0	0	0	0	1	0	0	0	2605	623	22	3	1089	3	CAMK1G	1	209785272	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	7804951	209785272	39465349	12	971											
TMEM206	55248	hgsc.bcm.edu	37	1	212538674	212538674	+	Silent	SNP	G	G	T	rs371543331	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:212538674G>T	ENST00000261455.4	-	8	1073	c.936C>A	c.(934-936)ggC>ggA	p.G312G	TMEM206_ENST00000535273.1_Silent_p.G373G	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	312						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G312G(1)		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)		CCAAGAAGGCGCCACAGAGAA	0.388																																					p.G373G		.											TMEM206,colon,carcinoma,0,1	TMEM206	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119A						.						142	143	142					1																	212538674		2203	4300	6503	SO:0001819	synonymous_variant	55248	exon9			GAAGGCGCCACAG	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.936C>A	1.37:g.212538674G>T		6	0		40	2	NM_001198862	B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	CCDS1504.1																																																																																			.		0.388	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		T	212538674	G	T	212538674	2	4	7	1	0	0	0	0	0	0	0	1	16178	1074	38	2		2	TMEM206	1	212538674	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	2753402	212538674	36711947	13	972											
OBSCN	84033	ucsc.edu	37	1	228503595	228503595	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:228503595G>T	ENST00000422127.1	+	50	13104	c.13060G>T	c.(13060-13062)Ggc>Tgc	p.G4354C	OBSCN_ENST00000366709.4_Missense_Mutation_p.G1473C|OBSCN_ENST00000570156.2_Missense_Mutation_p.G5311C|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1988C|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4354C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4354	Ig-like 45.				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)				GGCGCTGGAGGGCGGCGAGGC	0.692																																					p.G5311C													.	OBSCN	2142	0			c.G15931T						.						17	23	21					1																	228503595		2084	4197	6281	SO:0001583	missense	84033	exon61			CTGGAGGGCGGCG	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.13060G>T	1.37:g.228503595G>T	ENSP00000409493:p.Gly4354Cys	39	0		40	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	25.0	4.590472	0.86851	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.37461	0.1004	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.34625	-0.9821	10	0.87932	D	0	.	18.0545	0.89360	0.0:0.0:1.0:0.0	.	4354;4354	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	4354;4354;1988;1473	ENSP00000284548:G4354C;ENSP00000409493:G4354C;ENSP00000355668:G1988C;ENSP00000355670:G1473C	ENSP00000284548:G4354C	G	+	1	0	OBSCN	226570218	1.000000	0.71417	0.984000	0.44739	0.518000	0.34316	9.434000	0.97515	2.266000	0.75297	0.313000	0.20887	GGC	.		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228503595	G	T	228503595	3	4	7	1	0	0	0	0	1	0	0	0	10851	1232	43	3	13254	3	OBSCN	1	228503595	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	15964921	228503595	20747026	14	973											
C1orf198	84886	hgsc.bcm.edu	37	1	230979495	230979495	+	Missense_Mutation	SNP	C	C	T	rs375540477		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:230979495C>T	ENST00000366663.5	-	3	672	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.A140T|C1orf198_ENST00000523410.1_Missense_Mutation_p.A48T	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	178						cytoplasm (GO:0005737)		p.A178T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCCCAGGGCGTCCAGGCTG	0.667																																					p.A178T		.											C1orf198,NS,carcinoma,0,1	C1orf198	0	1	Substitution - Missense(1)	breast(1)	c.G532A						.						77	85	82					1																	230979495		2203	4300	6503	SO:0001583	missense	84886	exon3			CCAGGGCGTCCAG	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.532G>A	1.37:g.230979495C>T	ENSP00000355623:p.Ala178Thr	14	0		48	3	NM_032800	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947459	0.53186	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.34472	1.41;1.4;1.36	4.61	4.61	0.57282	.	0.357263	0.24001	N	0.042464	T	0.36276	0.0961	L	0.57536	1.79	0.09310	N	1	P	0.46327	0.876	B	0.37304	0.246	T	0.43163	-0.9408	10	0.66056	D	0.02	-7.3394	17.4393	0.87561	0.0:1.0:0.0:0.0	.	178	Q9H425	CA198_HUMAN	T	178;140;48;135	ENSP00000355623:A178T;ENSP00000428172:A140T;ENSP00000430967:A48T	ENSP00000355623:A178T	A	-	1	0	C1orf198	229046118	0.422000	0.25473	0.040000	0.18447	0.284000	0.27059	4.021000	0.57196	2.100000	0.63781	0.462000	0.41574	GCC	.		0.667	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		T	230979495	C	T	230979495	3	4	7	1	0	0	0	0	1	0	0	0	2033	768	27	1	459	1	C1orf198	1	230979495	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	2475900	230979495	18271126	15	974											
NID1	4811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	236205367	236205367	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:236205367G>A	ENST00000264187.6	-	4	1060	c.978C>T	c.(976-978)taC>taT	p.Y326Y	NID1_ENST00000366595.3_Silent_p.Y326Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	326					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)	TGGGCACACTGTATGTGTCAG	0.602																																					p.Y326Y		.											.	.	.	0			c.C978T						.						101	92	95					1																	236205367		2203	4300	6503	SO:0001819	synonymous_variant	4811	exon4			CACACTGTATGTG	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.978C>T	1.37:g.236205367G>A		10	0		24	10	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																			.		0.602	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		A	236205367	G	A	236205367	2	1	7	1	0	0	0	0	0	0	0	1	10453	1372	48	3		3	NID1	1	236205367	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	5225872	236205367	13045254	16	975											
FMN2	56776	hgsc.bcm.edu;broad.mit.edu	37	1	240371625	240371625	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:240371625G>A	ENST00000319653.9	+	5	3743	c.3513G>A	c.(3511-3513)gcG>gcA	p.A1171A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1171	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	0.687																																					p.A1171A		.											.	.	.	0			c.G3513A						.						8	10	9					1																	240371625		2181	4257	6438	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.3513G>A	1.37:g.240371625G>A		69	0		124	5	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371625	G	A	240371625	2	1	7	1	0	0	0	0	0	0	0	1	5972	1103	39	1		1	FMN2	1	240371625	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	4166258	240371625	8878996	17	976											
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	240374462	240374462	+	Nonsense_Mutation	SNP	T	T	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:240374462T>A	ENST00000319653.9	+	6	4222	c.3992T>A	c.(3991-3993)tTa>tAa	p.L1331*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1331	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			TTTGAGGAATTATTTTCTAAA	0.313																																					p.L1331X		.											.	.	.	0			c.T3992A						.						99	103	102					1																	240374462		2203	4300	6503	SO:0001587	stop_gained	56776	exon6			AGGAATTATTTTC	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.3992T>A	1.37:g.240374462T>A	ENSP00000318884:p.Leu1331*	26	0		56	22	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	46	12.185989	0.99644	.	.	ENSG00000155816	ENST00000319653	.	.	.	4.49	4.49	0.54785	.	0.000000	0.45361	D	0.000368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8153	0.63287	0.0:0.0:0.0:1.0	.	.	.	.	X	1331	.	ENSP00000318884:L1331X	L	+	2	0	FMN2	238441085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	1.669000	0.50854	0.533000	0.62120	TTA	.		0.313	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240374462	T	A	240374462	4	1	7	1	0	0	0	0	0	1	0	0	5972	1764	61	5	4014	5	FMN2	1	240374462	Nonsense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	2837	240374462	8876159	18	977											
OR2G2	81470	hgsc.bcm.edu	37	1	247752208	247752208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:247752208G>T	ENST00000320065.1	+	1	547	c.547G>T	c.(547-549)Gag>Tag	p.E183*	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, 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)			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)			TTTCATCTGCGAGGTCCCTGT	0.532																																					p.E183X		.											OR2G2,NS,carcinoma,0,1	OR2G2	0	0			c.G547T						.						181	175	177					1																	247752208		2203	4300	6503	SO:0001587	stop_gained	81470	exon1			ATCTGCGAGGTCC	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.547G>T	1.37:g.247752208G>T	ENSP00000326349:p.Glu183*	24	0		42	2	NM_001001915	Q5JQT2|Q6IEZ0	Nonsense_Mutation	SNP	ENST00000320065.1	37	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083147	0.94050	.	.	ENSG00000177489	ENST00000320065	.	.	.	4.29	4.29	0.51040	.	0.000000	0.37348	U	0.002125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3294	0.66545	0.0:0.0:1.0:0.0	.	.	.	.	X	183	.	ENSP00000326349:E183X	E	+	1	0	OR2G2	245818831	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.464000	0.53057	2.206000	0.71126	0.591000	0.81541	GAG	.		0.532	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			T	247752208	G	T	247752208	4	4	7	1	0	0	0	0	0	1	0	0	11037	1059	37	2	549	2	OR2G2	1	247752208	Nonsense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	7377746	247752208	1498413	19	978											
XIRP2	129446	hgsc.bcm.edu	37	2	168099965	168099965	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:168099965A>G	ENST00000409195.1	+	9	2152	c.2063A>G	c.(2062-2064)gAt>gGt	p.D688G	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D466G|XIRP2_ENST00000295237.9_Missense_Mutation_p.D688G|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	513					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.D688G(2)		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						ACTGGGGGGGATGTCAAGACT	0.418																																					p.D688G		.											XIRP2,NS,carcinoma,0,2	XIRP2	0	2	Substitution - Missense(2)	endometrium(2)	c.A2063G						.						83	80	81					2																	168099965		1938	4142	6080	SO:0001583	missense	129446	exon9			GGGGGGATGTCAA	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.2063A>G	2.37:g.168099965A>G	ENSP00000386840:p.Asp688Gly	14	0		40	3	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	15.08	2.726331	0.48833	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.08896	3.06;3.06;3.04	5.93	5.93	0.95920	.	0.049093	0.85682	D	0.000000	T	0.21921	0.0528	M	0.86651	2.83	0.48395	D	0.999646	P;P;P	0.48162	0.848;0.906;0.906	B;P;P	0.50378	0.436;0.639;0.639	T	0.01613	-1.1312	10	0.72032	D	0.01	-16.8843	8.6084	0.33786	0.8005:0.1314:0.0682:0.0	.	513;513;466	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	688;688;466	ENSP00000386840:D688G;ENSP00000295237:D688G;ENSP00000387255:D466G	ENSP00000295237:D688G	D	+	2	0	XIRP2	167808211	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.464000	0.53057	2.271000	0.75665	0.533000	0.62120	GAT	.		0.418	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168099965	A	G	168099965	3	3	7	1	0	0	0	0	1	0	0	0	17479	333	12	4	2093	4	XIRP2	2	168099965	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09		168099965	75099408	20	979											
TMEFF2	23671	hgsc.bcm.edu	37	2	192815056	192815056	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:192815056G>T	ENST00000272771.5	-	10	2290	c.1106C>A	c.(1105-1107)gCg>gAg	p.A369E	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000392314.1_3'UTR	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	369						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)			CCTCGTGGACGCTCTTGTTGT	0.423																																					p.A369E	Pancreas(50;1277 1381 28487 47072)	.											TMEFF2,colon,carcinoma,0,1	TMEFF2	0	0			c.C1106A						.						312	271	284					2																	192815056		2203	4300	6503	SO:0001583	missense	23671	exon10			GTGGACGCTCTTG	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.1106C>A	2.37:g.192815056G>T	ENSP00000272771:p.Ala369Glu	18	0		35	2	NM_016192	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619967	0.87460	.	.	ENSG00000144339	ENST00000272771	T	0.61274	0.12	5.79	5.79	0.91817	.	0.112774	0.64402	D	0.000013	T	0.64316	0.2587	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.69749	-0.5061	10	0.72032	D	0.01	-14.0507	20.0361	0.97558	0.0:0.0:1.0:0.0	.	369	Q9UIK5	TEFF2_HUMAN	E	369	ENSP00000272771:A369E	ENSP00000272771:A369E	A	-	2	0	TMEFF2	192523301	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.281000	0.95811	2.740000	0.93945	0.563000	0.77884	GCG	.		0.423	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		T	192815056	G	T	192815056	3	4	7	1	0	0	0	0	1	0	0	0	16061	1087	38	2	22	2	TMEFF2	2	192815056	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	24715091	192815056	50384317	21	980											
STRADB	55437	bcgsc.ca	37	2	202344886	202344886	+	Silent	SNP	C	C	T	rs146098224		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	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	415					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)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																					p.Y415Y													.	STRADB	33	0			c.C1245T						.						134	136	135					2																	202344886		2203	4300	6503	SO:0001819	synonymous_variant	55437	exon12			CTCATACTGGGAA	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.1245C>T	2.37:g.202344886C>T		39	0		81	7	NM_018571	Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																			.		0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		T	202344886	C	T	202344886	2	4	7	1	0	0	0	0	0	0	0	1	15372	576	20	3		3	STRADB	2	202344886	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	9529830	202344886	40854487	22	981											
SPAG16	79582	hgsc.bcm.edu	37	2	214794782	214794782	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:214794782C>T	ENST00000331683.5	+	12	1408	c.1313C>T	c.(1312-1314)gCa>gTa	p.A438V	SPAG16_ENST00000374309.3_Missense_Mutation_p.A344V	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	438					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)		CACAGCCGCGCAGTGTGGTCC	0.443																																					p.A438V		.											.	.	.	0			c.C1313T						.						111	110	111					2																	214794782		2203	4300	6503	SO:0001583	missense	79582	exon12			GCCGCGCAGTGTG	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.1313C>T	2.37:g.214794782C>T	ENSP00000332592:p.Ala438Val	59	0		81	4	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012147	0.54468	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.61158	0.13;0.13	5.48	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.350989	0.24737	N	0.036001	T	0.65502	0.2697	L	0.46819	1.47	0.50313	D	0.999862	D;D;B;D	0.67145	0.989;0.996;0.372;0.989	P;D;B;P	0.63877	0.896;0.919;0.285;0.896	T	0.60255	-0.7299	10	0.16420	T	0.52	.	14.7929	0.69857	0.0:0.8545:0.1455:0.0	.	344;289;378;438	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	V	438;344	ENSP00000332592:A438V;ENSP00000363428:A344V	ENSP00000332592:A438V	A	+	2	0	SPAG16	214503027	0.997000	0.39634	0.852000	0.33557	0.188000	0.23474	3.538000	0.53597	1.253000	0.44018	0.655000	0.94253	GCA	.		0.443	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		T	214794782	C	T	214794782	3	4	7	1	0	0	0	0	1	0	0	0	15025	710	25	3	1375	3	SPAG16	2	214794782	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	12449896	214794782	28404591	23	982											
PAX3	5077	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	223161877	223161877	+	Missense_Mutation	SNP	G	G	T	rs104893652		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:223161877G>T	ENST00000350526.4	-	2	277	c.141C>A	c.(139-141)aaC>aaA	p.N47K	CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000409828.3_Missense_Mutation_p.N47K|PAX3_ENST00000344493.4_Missense_Mutation_p.N47K|PAX3_ENST00000258387.5_Missense_Mutation_p.N47K|PAX3_ENST00000392069.2_Missense_Mutation_p.N47K|PAX3_ENST00000336840.6_Missense_Mutation_p.N47K|PAX3_ENST00000409551.3_Missense_Mutation_p.N47K|PAX3_ENST00000392070.2_Missense_Mutation_p.N47K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	47	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		N -> H (in WS3). {ECO:0000269|PubMed:8447316}.|N -> K (in CDHS). {ECO:0000269|PubMed:8664898}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|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 somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGCCTGCCGTTGATAAAAA	0.632			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.N47K		.		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	.	0			c.C141A	GRCh37	CM961088	PAX3	M	rs104893652	.						14	15	15					2																	223161877		2193	4293	6486	SO:0001583	missense	5077	exon2			CCTGCCGTTGATA		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.141C>A	2.37:g.223161877G>T	ENSP00000343052:p.Asn47Lys	23	0		43	25	NM_181457	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995673	0.74703	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17;-6.17;-6.17;-6.17;-6.17	5.24	4.24	0.50183	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	0.99704	0.9887	H	0.97315	3.98	0.58432	D	0.999992	D;D;D;P;D;D;D	0.89917	0.999;0.999;0.985;0.945;0.972;1.0;0.972	D;D;P;P;P;D;P	0.76575	0.988;0.977;0.658;0.668;0.539;0.954;0.539	D	0.97971	1.0343	10	0.87932	D	0	.	8.6227	0.33870	0.2538:0.0:0.7462:0.0	.	47;47;47;47;47;47;47	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	K	47	ENSP00000375921:N47K;ENSP00000342092:N47K;ENSP00000343052:N47K;ENSP00000375922:N47K;ENSP00000338767:N47K;ENSP00000386750:N47K;ENSP00000386817:N47K;ENSP00000258387:N47K	ENSP00000258387:N47K	N	-	3	2	PAX3	222870121	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.401000	0.34589	2.426000	0.82243	0.655000	0.94253	AAC	.		0.632	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223161877	G	T	223161877	3	4	7	1	0	0	0	0	1	0	0	0	11519	1136	40	2	1541	2	PAX3	2	223161877	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	8367095	223161877	20037496	24	983											
KIAA1486	57624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	226447614	226447614	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:226447614C>T	ENST00000272907.6	+	4	1894	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	494					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCGGTGAACACCTACGGGGCA	0.682																																					p.T494I		.											.	.	.	0			c.C1481T						.						25	29	28					2																	226447614		1968	4142	6110	SO:0001583	missense	57624	exon4			TGAACACCTACGG	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1481C>T	2.37:g.226447614C>T	ENSP00000272907:p.Thr494Ile	25	0		45	17	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129952	0.37630	.	.	ENSG00000144460	ENST00000272907	T	0.32272	1.46	5.63	5.63	0.86233	.	0.057293	0.64402	D	0.000002	T	0.27765	0.0683	N	0.25647	0.755	0.80722	D	1	B;P	0.38677	0.184;0.642	B;B	0.37480	0.131;0.251	T	0.05599	-1.0875	10	0.62326	D	0.03	-16.0376	19.7096	0.96089	0.0:1.0:0.0:0.0	.	8;494	Q9P242-3;Q9P242	.;K1486_HUMAN	I	494	ENSP00000272907:T494I	ENSP00000272907:T494I	T	+	2	0	KIAA1486	226155858	1.000000	0.71417	0.771000	0.31576	0.414000	0.31173	5.633000	0.67825	2.652000	0.90054	0.655000	0.94253	ACC	.		0.682	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		T	226447614	C	T	226447614	3	4	7	1	0	0	0	0	1	0	0	0	8264	507	18	3	1491	3	KIAA1486	2	226447614	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	3285737	226447614	16751759	25	984											
TRAF3IP1	26146	hgsc.bcm.edu	37	2	239242655	239242655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:239242655C>T	ENST00000373327.4	+	7	1264	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R348*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R348*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	348	DISC1-interaction domain.				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)		ATCAAAACGGCGATCCAAAAA	0.294																																					p.R348X		.											.	.	.	0			c.C1042T						.						56	55	55					2																	239242655		2202	4300	6502	SO:0001587	stop_gained	26146	exon7			AAACGGCGATCCA	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.1042C>T	2.37:g.239242655C>T	ENSP00000362424:p.Arg348*	59	0		94	3	NM_015650	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Nonsense_Mutation	SNP	ENST00000373327.4	37	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369944	0.95900	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	.	.	.	4.55	4.55	0.56014	.	0.454048	0.21438	N	0.074526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.034	14.0288	0.64601	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	ENSP00000362424:R348X	R	+	1	2	TRAF3IP1	238907394	0.894000	0.30519	0.059000	0.19551	0.059000	0.15707	0.892000	0.28322	2.081000	0.62600	0.491000	0.48974	CGA	.		0.294	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		T	239242655	C	T	239242655	4	4	7	1	0	0	0	0	0	1	0	0	16488	760	27	1	1068	1	TRAF3IP1	2	239242655	Nonsense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	12795041	239242655	3956718	26	985											
SNED1	25992	hgsc.bcm.edu	37	2	241979571	241979571	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:241979571C>T	ENST00000310397.8	+	7	1125	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	SNED1_ENST00000401884.1_Silent_p.C375C|SNED1_ENST00000342631.6_Silent_p.C375C|SNED1_ENST00000405547.3_Silent_p.C375C|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	375	EGF-like 3. {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)		TGTGTGTGTGCCAGGCCGGAT	0.632																																					p.C375C		.											SNED1,NS,carcinoma,0,1	SNED1	0	0			c.C1125T						.						33	40	37					2																	241979571		2136	4239	6375	SO:0001819	synonymous_variant	25992	exon7			TGTGTGCCAGGCC	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.1125C>T	2.37:g.241979571C>T		24	0		39	2	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.402|1.402	-0.577857|-0.577857	0.03854|0.03854	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	.|.	.|.	.|.	4.73|4.73	2.88|2.88	0.33553|0.33553	.|.	.|.	.|.	.|.	.|.	T|T	0.55752|0.55752	0.1940|0.1940	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50048|0.50048	-0.8873|-0.8873	4|4	.|.	.|.	.|.	.|.	7.2772|7.2772	0.26292|0.26292	0.0:0.7194:0.0:0.2806|0.0:0.7194:0.0:0.2806	.|.	.|.	.|.	.|.	V|S	33|72	.|.	.|.	A|P	+|+	2|1	0|0	SNED1|SNED1	241628244|241628244	0.895000|0.895000	0.30542|0.30542	0.757000|0.757000	0.31301|0.31301	0.005000|0.005000	0.04900|0.04900	0.488000|0.488000	0.22371|0.22371	0.923000|0.923000	0.37045|0.37045	0.591000|0.591000	0.81541|0.81541	GCC|CCA	.		0.632	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	241979571	C	T	241979571	2	4	7	1	0	0	0	0	0	0	0	1	14890	747	26	3		3	SNED1	2	241979571	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	2736916	241979571	1219802	27	986											
CHL1	10752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	440009	440009	+	Missense_Mutation	SNP	C	C	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:440009C>G	ENST00000256509.2	+	25	3836	c.3194C>G	c.(3193-3195)aCt>aGt	p.T1065S	CHL1_ENST00000397491.2_Missense_Mutation_p.T1049S	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					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)		CGCCTAATGACTAAGAATTGG	0.393																																					p.T1065S		.											.	.	.	0			c.C3194G						.						87	84	85					3																	440009		2203	4300	6503	SO:0001583	missense	10752	exon25			TAATGACTAAGAA	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.3194C>G	3.37:g.440009C>G	ENSP00000256509:p.Thr1065Ser	35	0		57	40	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159090	0.57368	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.58358	0.34;0.35	5.72	5.72	0.89469	.	0.349053	0.30979	N	0.008486	T	0.40932	0.1137	L	0.27053	0.805	0.51482	D	0.99992	B;P	0.35401	0.003;0.499	B;B	0.33295	0.008;0.161	T	0.20075	-1.0286	10	0.20046	T	0.44	.	18.0416	0.89320	0.0:1.0:0.0:0.0	.	1049;1065	O00533;O00533-2	CHL1_HUMAN;.	S	1065;1049	ENSP00000256509:T1065S;ENSP00000380628:T1049S	ENSP00000256509:T1065S	T	+	2	0	CHL1	415009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.537000	0.73847	2.711000	0.92665	0.650000	0.86243	ACT	.		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		G	440009	C	G	440009	3	3	7	1	0	0	0	0	1	0	0	0	3356	565	20	5	3284	5	CHL1	3	440009	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09		440009	197582421	28	987											
NUP210	23225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	13383292	13383292	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:13383292T>G	ENST00000254508.5	-	23	3266	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1062					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)					CCAGCTTTATTGGTCACACTT	0.532																																					p.N1062H		.											.	.	.	0			c.A3184C						.						180	146	158					3																	13383292		2203	4300	6503	SO:0001583	missense	23225	exon23			CTTTATTGGTCAC	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.3184A>C	3.37:g.13383292T>G	ENSP00000254508:p.Asn1062His	25	0		32	19	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	9.880	1.201279	0.22121	.	.	ENSG00000132182	ENST00000254508	T	0.05447	3.44	5.64	3.81	0.43845	.	0.058619	0.64402	D	0.000003	T	0.03178	0.0093	N	0.03608	-0.345	0.29204	N	0.875033	P	0.34837	0.472	B	0.30943	0.122	T	0.21895	-1.0232	10	0.66056	D	0.02	-10.2122	12.0653	0.53583	0.0:0.8789:0.0:0.1211	.	1062	Q8TEM1	PO210_HUMAN	H	1062	ENSP00000254508:N1062H	ENSP00000254508:N1062H	N	-	1	0	NUP210	13358292	0.999000	0.42202	0.010000	0.14722	0.001000	0.01503	4.142000	0.58044	0.738000	0.32606	-1.114000	0.02060	AAT	.		0.532	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		G	13383292	T	G	13383292	3	3	7	1	0	0	0	0	1	0	0	0	10799	1812	63	4	2551	4	NUP210	3	13383292	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	12943283	13383292	184639138	29	988											
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52439916	52439916	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:52439916T>G	ENST00000460680.1	-	10	1267	c.796A>C	c.(796-798)Aca>Cca	p.T266P	BAP1_ENST00000296288.5_Missense_Mutation_p.T248P	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTGGCTGTGTTACTCTTATC	0.507			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.T266P	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	.	.	0			c.A796C						.						60	61	61					3																	52439916		2203	4300	6503	SO:0001583	missense	8314	exon10			GCTGTGTTACTCT	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.796A>C	3.37:g.52439916T>G	ENSP00000417132:p.Thr266Pro	17	0		18	11	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192098	0.78902	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.58652	0.32;0.34	5.35	5.35	0.76521	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.047616	0.85682	D	0.000000	T	0.68284	0.2984	L	0.59436	1.845	0.80722	D	1	D	0.60575	0.988	P	0.58577	0.841	T	0.67764	-0.5586	10	0.38643	T	0.18	-6.369	15.6343	0.76937	0.0:0.0:0.0:1.0	.	266	Q92560	BAP1_HUMAN	P	266;248	ENSP00000417132:T266P;ENSP00000296288:T248P	ENSP00000296288:T248P	T	-	1	0	BAP1	52414956	1.000000	0.71417	0.690000	0.30148	0.987000	0.75469	5.425000	0.66470	2.152000	0.67230	0.459000	0.35465	ACA	.		0.507	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			G	52439916	T	G	52439916	3	3	7	1	0	0	0	0	1	0	0	0	1312	1725	60	4	1425	4	BAP1	3	52439916	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	39056624	52439916	145582514	30	989			1	1		2	2	15	T		5.924227e-05
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52439930	52439930	+	Splice_Site	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:52439930T>C	ENST00000460680.1	-	10	1255		c.e10-2		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTTATCAGCTAACAACAGAA	0.512			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															.	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	BAP1,colon,carcinoma,0,3	BAP1	0	1	Unknown(1)	pleura(1)	c.784-2A>G						.						54	56	55					3																	52439930		2203	4300	6503	SO:0001630	splice_region_variant	8314	exon11			ATCAGCTAACAAC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.784-2A>G	3.37:g.52439930T>C		16	0		20	12	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954016	0.73902	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52414970	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.425000	0.66470	2.268000	0.75426	0.459000	0.35465	.	.		0.512	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Intron	C	52439930	T	C	52439930	5	2	7	1	0	0	0	0	0	0	1	0	1312	1536	53	4	1439	4	BAP1	3	52439930	Splice_Site	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	14	52439930	145582500	31	990			1	1		2	2	15	T		5.924227e-05
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu	37	3	52651496	52651496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:52651496G>A	ENST00000296302.7	-	14	1601	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R534*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R534*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R502*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R549*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R549*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R534*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R534*			Q86U86	PB1_HUMAN	polybromo 1	534					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)	p.R534*(1)		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)		CCTGGCTCTCGAGCTTCAAGA	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.R534X		.		Rec	yes		3	3p21	55193	polybromo 1		E	PBRM1_ENST00000296302,NS,carcinoma,0,1	PBRM1_ENST00000296302	0	1	Substitution - Nonsense(1)	pancreas(1)	c.C1600T						.						89	88	89					3																	52651496		2203	4300	6503	SO:0001587	stop_gained	55193	exon15			GCTCTCGAGCTTC	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.1600C>T	3.37:g.52651496G>A	ENSP00000296302:p.Arg534*	20	0		24	3	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	7.157893	0.98103	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2756	15.7119	0.77635	0.0:0.0:0.8627:0.1372	.	.	.	.	X	502;534;534;534;534;534;549;549;534;493	.	ENSP00000296302:R534X	R	-	1	2	PBRM1	52626536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.657000	0.61490	2.764000	0.94973	0.655000	0.94253	CGA	.		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52651496	G	A	52651496	4	1	7	1	0	0	0	0	0	1	0	0	11530	1066	37	1	3368	1	PBRM1	3	52651496	Nonsense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	211566	52651496	145370934	32	991											
APPL1	26060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	57272144	57272144	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:57272144G>T	ENST00000288266.3	+	4	432	c.285G>T	c.(283-285)gaG>gaT	p.E95D		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	95	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)		TTATAGATGAGGTAAACGTTT	0.318																																					p.E95D		.											.	.	.	0			c.G285T						.						116	113	114					3																	57272144		2203	4300	6503	SO:0001630	splice_region_variant	26060	exon4			AGATGAGGTAAAC	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.285+1G>T	3.37:g.57272144G>T		57	0		71	4	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201794	0.79015	.	.	ENSG00000157500	ENST00000288266;ENST00000444459	T;T	0.33216	1.42;1.42	5.87	3.0	0.34707	.	0.046330	0.85682	D	0.000000	T	0.47173	0.1431	M	0.68593	2.085	0.58432	D	0.999998	P;D;D	0.65815	0.686;0.978;0.995	B;D;P	0.65323	0.296;0.934;0.897	T	0.36040	-0.9764	10	0.62326	D	0.03	.	8.608	0.33784	0.3033:0.0:0.6967:0.0	.	78;78;95	B4DQX8;C9JAB0;Q9UKG1	.;.;DP13A_HUMAN	D	95;78	ENSP00000288266:E95D;ENSP00000406095:E78D	ENSP00000288266:E95D	E	+	3	2	APPL1	57247184	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.279000	0.51670	0.337000	0.23665	-0.355000	0.07637	GAG	.		0.318	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	Missense_Mutation	T	57272144	G	T	57272144	5	4	7	1	0	0	0	0	0	0	1	0	817	1014	35	3	299	3	APPL1	3	57272144	Splice_Site	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	4620648	57272144	140750286	33	992											
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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.H1047R(1387)|p.H1047L(194)|p.H1047P(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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.H1047L	Colon(199;1504 1750 3362 26421 31210 32040)	.		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	PIK3CA_ENST00000263967,NS,adenocarcinoma,0,2044	PIK3CA_ENST00000263967	0	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	c.A3140T						.						99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290	exon21			ATGCACATCATGG		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.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	12	0		30	12	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	.		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178952085	A	T	178952085	3	4	7	1	0	0	0	0	1	0	0	0	11952	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	121679941	178952085	19070345	34	993											
TTC14	151613	hgsc.bcm.edu	37	3	180320910	180320910	+	Splice_Site	SNP	A	A	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:180320910A>T	ENST00000296015.4	+	3	418		c.e3-1		TTC14_ENST00000382584.4_Splice_Site|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Splice_Site	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14								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)			TTTTTTTTTTAGATCATTATG	0.358																																					.		.											.	.	.	0			c.287-2A>T						.						107	110	109					3																	180320910		2203	4300	6503	SO:0001630	splice_region_variant	151613	exon3			TTTTTTAGATCAT	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.287-1A>T	3.37:g.180320910A>T		40	0		75	6	NM_001042601	G5E9X0|Q6UWJ7|Q8TF22	Splice_Site	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	32	5.147489	0.94603	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC14	181803604	1.000000	0.71417	0.966000	0.40874	0.722000	0.41435	8.714000	0.91412	2.210000	0.71456	0.533000	0.62120	.	.		0.358	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	Intron	T	180320910	A	T	180320910	5	4	7	1	0	0	0	0	0	0	1	0	16730	434	15	5	295	5	TTC14	3	180320910	Splice_Site	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	1368825	180320910	17701520	35	994											
ETV5	2119	broad.mit.edu	37	3	185798929	185798929	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:185798929G>A	ENST00000306376.5	-	6	514	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	ETV5_ENST00000434744.1_Missense_Mutation_p.R90W|ETV5_ENST00000537818.1_Missense_Mutation_p.R132W|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	90					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)			TGCAGCTCCCGTTTGATCTTG	0.507			T	"TMPRSS2, SCL45A3"	Prostate																																p.R90W				Dom	yes		3	3q28	2119	ets variant gene 5		E	.	ETV5	106	0			c.C268T						.						100	101	101					3																	185798929		2203	4300	6503	SO:0001583	missense	2119	exon6			GCTCCCGTTTGAT	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.268C>T	3.37:g.185798929G>A	ENSP00000306894:p.Arg90Trp	22	0		39	3	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.341758|4.341758	0.81911|0.81911	.|.	.|.	ENSG00000244405|ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301|ENST00000422039	T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58|.	5.22|5.22	4.32|4.32	0.51571|0.51571	PEA3-type ETS-domain transcription factor, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70919|0.70919	0.3279|0.3279	M|M	0.66939|0.66939	2.045|2.045	0.48901|0.48901	D|D	0.99972|0.99972	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.73046|0.73046	-0.4106|-0.4106	10|6	0.87932|0.62326	D|D	0|0.03	.|.	12.2106|12.2106	0.54377|0.54377	0.0:0.0:0.829:0.171|0.0:0.0:0.829:0.171	.|.	90;132|.	P41161;B7Z7D7|.	ETV5_HUMAN;.|.	W|M	90;90;132;90;90;90|127	ENSP00000306894:R90W;ENSP00000413755:R90W;ENSP00000441737:R132W;ENSP00000389707:R90W;ENSP00000412171:R90W;ENSP00000405157:R90W|.	ENSP00000306894:R90W|ENSP00000388737:T127M	R|T	-|-	1|2	2|0	ETV5|ETV5	187281623|187281623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.455000|6.455000	0.73497|0.73497	1.155000|1.155000	0.42497|0.42497	0.563000|0.563000	0.77884|0.77884	CGG|ACG	.		0.507	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		A	185798929	G	A	185798929	3	1	7	1	0	0	0	0	1	0	0	0	5298	1144	40	1	1296	1	ETV5	3	185798929	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	5478019	185798929	12223501	36	995											
ATP13A3	79572	hgsc.bcm.edu	37	3	194167665	194167665	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:194167665G>A	ENST00000439040.1	-	14	2279	c.1488C>T	c.(1486-1488)tgC>tgT	p.C496C	ATP13A3_ENST00000256031.4_Silent_p.C496C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	496						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCTTGTCAAAGCAAACAAGAT	0.323																																					p.C496C		.											.	.	.	0			c.C1488T						.						109	102	104					3																	194167665		1849	4095	5944	SO:0001819	synonymous_variant	79572	exon13			GTCAAAGCAAACA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1488C>T	3.37:g.194167665G>A		22	0		86	4	NM_024524	Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	CCDS43187.1																																																																																			.		0.323	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		A	194167665	G	A	194167665	2	1	7	1	0	0	0	0	0	0	0	1	1126	963	34	3		3	ATP13A3	3	194167665	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	8368736	194167665	3854765	37	996											
CCDC96	257236	hgsc.bcm.edu	37	4	7044539	7044539	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:7044539G>T	ENST00000310085.4	-	1	189	c.127C>A	c.(127-129)Ctg>Atg	p.L43M	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	43	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCCGACTCCAGCTCCCCGGGT	0.731																																					p.L43M		.											.	.	.	0			c.C127A						.						5	6	6					4																	7044539		2070	4182	6252	SO:0001583	missense	257236	exon1			ACTCCAGCTCCCC	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.127C>A	4.37:g.7044539G>T	ENSP00000309285:p.Leu43Met	10	0		19	4	NM_153376	Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322588	0.23994	.	.	ENSG00000173013	ENST00000310085	T	0.44482	0.92	3.66	0.744	0.18353	.	1.046430	0.07689	U	0.938481	T	0.19167	0.0460	N	0.08118	0	0.09310	N	0.999999	P	0.39576	0.679	B	0.32289	0.143	T	0.12811	-1.0533	10	0.54805	T	0.06	-3.4123	5.2095	0.15308	0.2102:0.1694:0.6204:0.0	.	43	Q2M329	CCD96_HUMAN	M	43	ENSP00000309285:L43M	ENSP00000309285:L43M	L	-	1	2	CCDC96	7095440	0.002000	0.14202	0.038000	0.18304	0.026000	0.11368	-0.180000	0.09754	0.256000	0.21614	-0.373000	0.07131	CTG	.		0.731	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		T	7044539	G	T	7044539	3	4	7	1	0	0	0	0	1	0	0	0	2881	962	34	3	1544	3	CCDC96	4	7044539	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		7044539	184109737	38	997											
YTHDC1	91746	hgsc.bcm.edu	37	4	69179995	69179995	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:69179995G>T	ENST00000344157.4	-	17	2341	c.2006C>A	c.(2005-2007)gCt>gAt	p.A669D	YTHDC1_ENST00000579690.1_Missense_Mutation_p.A677D|YTHDC1_ENST00000355665.3_Missense_Mutation_p.A651D	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	669	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTGACAACAGCTTGTGTGCG	0.468																																					p.A669D		.											YTHDC1,caecum,carcinoma,0,1	YTHDC1	0	0			c.C2006A						.						79	71	74					4																	69179995		2203	4300	6503	SO:0001583	missense	91746	exon17			ACAACAGCTTGTG	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2006C>A	4.37:g.69179995G>T	ENSP00000339245:p.Ala669Asp	13	0		30	2	NM_001031732	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919752	0.73098	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.32753	1.48;1.44	5.93	5.93	0.95920	.	0.048174	0.85682	D	0.000000	T	0.40645	0.1125	L	0.29908	0.895	0.80722	D	1	D;D	0.57257	0.979;0.964	P;P	0.54270	0.747;0.563	T	0.17137	-1.0379	10	0.87932	D	0	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	651;669	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	D	669;651	ENSP00000339245:A669D;ENSP00000347888:A651D	ENSP00000339245:A669D	A	-	2	0	YTHDC1	68862590	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.626000	0.90969	2.814000	0.96858	0.591000	0.81541	GCT	.		0.468	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		T	69179995	G	T	69179995	3	4	7	1	0	0	0	0	1	0	0	0	17545	971	34	3	181	3	YTHDC1	4	69179995	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	62135456	69179995	121974281	39	998											
POU4F2	5458	hgsc.bcm.edu	37	4	147560457	147560457	+	Silent	SNP	T	T	C	rs530695040|rs5862765		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	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		.											.	.	.	0			c.T165C						.						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		6	0		16	0	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	CCDS34074.1																																																																																			.		0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		C	147560457	T	C	147560457	2	2	7	1	0	0	0	0	0	0	0	1	12318	1683	59	4		4	POU4F2	4	147560457	Silent	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	78380462	147560457	43593819	40	999											
KIAA0922	23240	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	154525556	154525556	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:154525556T>G	ENST00000409663.3	+	25	3441	c.3389T>G	c.(3388-3390)tTg>tGg	p.L1130W	KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1131W|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1047W	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1130						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)				CAGCCAGACTTGCCAGAAATT	0.428																																					p.L1131W		.											.	.	.	0			c.T3392G						.						63	63	63					4																	154525556		2199	4291	6490	SO:0001583	missense	23240	exon25			CAGACTTGCCAGA	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.3389T>G	4.37:g.154525556T>G	ENSP00000386574:p.Leu1130Trp	42	0		60	6	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	18.14	3.556737	0.65425	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21932	2.26;1.98;2.26;1.99	5.98	4.8	0.61643	.	0.505944	0.19426	N	0.114564	T	0.39306	0.1073	L	0.56769	1.78	0.33855	D	0.63305	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.72982	0.979;0.94;0.872	T	0.53258	-0.8464	10	0.56958	D	0.05	-15.2901	9.1182	0.36771	0.0:0.14:0.0:0.86	.	1047;1131;1130	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	W	1130;1047;1131;908	ENSP00000386574:L1130W;ENSP00000409663:L1047W;ENSP00000386787:L1131W;ENSP00000240487:L908W	ENSP00000240487:L908W	L	+	2	0	KIAA0922	154745006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.126000	0.42026	1.083000	0.41159	0.533000	0.62120	TTG	.		0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		G	154525556	T	G	154525556	3	3	7	1	0	0	0	0	1	0	0	0	8228	1821	63	4	3490	4	KIAA0922	4	154525556	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	6965099	154525556	36628720	41	1000	4	2									
KIAA0922	23240	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	154525558	154525559	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	CC	CC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:154525558_154525559CC>AA	ENST00000409663.3	+	25	3443_3444	c.3391_3392CC>AA	c.(3391-3393)CCa>AAa	p.P1131K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.P1132K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1048K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1131						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)				GCCAGACTTGCCAGAAATTTCC	0.426																																					p.P1132K		.											.	.	.	0			c.C3395A						.																																			SO:0001583	missense	23240	exon25			ACTTGCCAGAAAT	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	Exception_encountered	4.37:g.154525558_154525559delinsAA	ENSP00000386574:p.Pro1131Lys	39	0		58	6	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	DNP	ENST00000409663.3	37	CCDS3783.2																																																																																			.		0.426	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		AA	154525559	CC	AA	154525558	3	1	7	1	0	0	0	0	1	0	0	0	8228	739	26	3	3492	3	KIAA0922	4	154525558	Missense_Mutation	DNP	CC	TCGA-4G-AAZT-01A-11D-A417-09	2	154525558	36628718	42	1001	4	2									
NPY1R	4886	hgsc.bcm.edu	37	4	164246817	164246817	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:164246817G>A	ENST00000296533.2	-	3	1324	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	NPY1R_ENST00000509586.1_Silent_p.L22L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGGAGAGCAGCATGATATTG	0.403																																					p.L265L		.											NPY1R,NS,carcinoma,0,1	NPY1R	0	0			c.C793T						.						82	80	81					4																	164246817		2203	4300	6503	SO:0001819	synonymous_variant	4886	exon3			AGAGCAGCATGAT		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.793C>T	4.37:g.164246817G>A		17	0		28	2	NM_000909	B2R6H5	Silent	SNP	ENST00000296533.2	37	CCDS34089.1																																																																																			.		0.403	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			A	164246817	G	A	164246817	2	1	7	1	0	0	0	0	0	0	0	1	10647	962	34	3		3	NPY1R	4	164246817	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	9721259	164246817	26907459	43	1002											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	89999578	89999578	+	Missense_Mutation	SNP	T	T	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:89999578T>A	ENST00000405460.2	+	35	8348	c.8252T>A	c.(8251-8253)tTt>tAt	p.F2751Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2751	Calx-beta 19. {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)		GAACTCAATTTTGCTAACTTT	0.353																																					p.F2751Y		.											.	.	.	0			c.T8252A						.						70	67	68					5																	89999578		1802	4074	5876	SO:0001583	missense	84059	exon35			TCAATTTTGCTAA	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.8252T>A	5.37:g.89999578T>A	ENSP00000384582:p.Phe2751Tyr	74	0		124	6	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.090579|4.090579	0.76756|0.76756	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.24350|.	1.86|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.045148|.	0.85682|.	D|.	0.000000|.	T|T	0.73345|0.73345	0.3575|0.3575	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.73845|0.73845	-0.3854|-0.3854	10|5	0.62326|.	D|.	0.03|.	.|.	15.1466|15.1466	0.72657|0.72657	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2751;2751|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	Y|M	2751|317	ENSP00000384582:F2751Y|.	ENSP00000296619:F2751Y|.	F|L	+|+	2|1	0|2	GPR98|GPR98	90035334|90035334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.154000|7.154000	0.77437|0.77437	2.173000|2.173000	0.68751|0.68751	0.528000|0.528000	0.53228|0.53228	TTT|TTG	.		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89999578	T	A	89999578	3	1	7	1	0	0	0	0	1	0	0	0	6748	1841	64	5	8390	5	GPR98	5	89999578	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09		89999578	90915682	44	1003											
RHOBTB3	22836	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	95099223	95099223	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:95099223T>G	ENST00000379982.3	+	7	1568	c.1060T>G	c.(1060-1062)Tgg>Ggg	p.W354G	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	354	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		TGCTTTTCAGTGGGAAGAATT	0.313																																					p.W354G		.											.	.	.	0			c.T1060G						.						80	84	83					5																	95099223		2203	4298	6501	SO:0001583	missense	22836	exon7			TTTCAGTGGGAAG	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.1060T>G	5.37:g.95099223T>G	ENSP00000369318:p.Trp354Gly	46	0		128	7	NM_014899	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992341	0.74703	.	.	ENSG00000164292	ENST00000379982	T	0.66815	-0.23	5.48	5.48	0.80851	BTB/POZ-like (2);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.32530	0.975	0.80722	D	1	D	0.59357	0.985	P	0.54401	0.751	T	0.66752	-0.5844	10	0.35671	T	0.21	-14.6868	15.2674	0.73672	0.0:0.0:0.0:1.0	.	354	O94955	RHBT3_HUMAN	G	354	ENSP00000369318:W354G	ENSP00000369318:W354G	W	+	1	0	RHOBTB3	95124979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.210000	0.65214	2.081000	0.62600	0.533000	0.62120	TGG	.		0.313	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		G	95099223	T	G	95099223	3	3	7	1	0	0	0	0	1	0	0	0	13380	1696	59	4	1086	4	RHOBTB3	5	95099223	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	5099645	95099223	85816037	45	1004											
TRIM36	55521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	114506912	114506912	+	Intron	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:114506912T>C	ENST00000282369.3	-	2	185				TRIM36_ENST00000379618.2_Missense_Mutation_p.D24G|TRIM36_ENST00000515104.1_5'Flank|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_5'Flank	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						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)		TCGTCTCCAATCCGGCATCTA	0.463																																					p.D24G		.											.	.	.	0			c.A71G						.						98	107	104					5																	114506912		2202	4300	6502	SO:0001627	intron_variant	55521	exon2			CTCCAATCCGGCA	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.64-7463A>G	5.37:g.114506912T>C		30	0		38	4	NM_001017397	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	T	1.502	-0.551894	0.03996	.	.	ENSG00000152503	ENST00000379618	.	.	.	2.28	-4.56	0.03431	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	7	0.87932	D	0	.	4.4315	0.11529	0.0:0.2252:0.3653:0.4094	.	24	Q0P5Z9	.	G	24	.	ENSP00000368938:D24G	D	-	2	0	TRIM36	114534811	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.913000	0.04042	-1.206000	0.02641	-1.317000	0.01298	GAT	.		0.463	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		C	114506912	T	C	114506912	1	2	7	0	1	0	0	0	0	0	0	0	16558	1435	50	4		4	TRIM36	5	114506912	Intron	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	19407689	114506912	66408348	46	1005											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	127641262	127641262	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:127641262C>A	ENST00000508053.1	-	50	6589	c.5615G>T	c.(5614-5616)gGt>gTt	p.G1872V	FBN2_ENST00000262464.4_Missense_Mutation_p.G1872V			P35556	FBN2_HUMAN	fibrillin 2	1872	EGF-like 30; 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)		GCGGTAACTACCAGGACTATT	0.463																																					p.G1872V		.											.	.	.	0			c.G5615T						.						100	97	98					5																	127641262		2203	4300	6503	SO:0001583	missense	2201	exon44			TAACTACCAGGAC	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.5615G>T	5.37:g.127641262C>A	ENSP00000424571:p.Gly1872Val	23	0		45	22	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534609	0.64972	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99557	-6.16;-6.16	5.35	4.48	0.54585	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.330882	0.26750	N	0.022692	D	0.99764	0.9904	H	0.98559	4.265	0.80722	D	1	D	0.62365	0.991	P	0.62740	0.906	D	0.96995	0.9725	10	0.87932	D	0	.	14.6441	0.68748	0.0:0.9302:0.0:0.0698	.	1872	P35556	FBN2_HUMAN	V	1872	ENSP00000262464:G1872V;ENSP00000424571:G1872V	ENSP00000262464:G1872V	G	-	2	0	FBN2	127669161	1.000000	0.71417	0.960000	0.40013	0.392000	0.30506	7.276000	0.78559	1.628000	0.50416	-0.150000	0.13652	GGT	.		0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127641262	C	A	127641262	3	1	7	1	0	0	0	0	1	0	0	0	5725	507	18	3	3211	3	FBN2	5	127641262	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	13134350	127641262	53273998	47	1006											
SLC22A4	6583	hgsc.bcm.edu	37	5	131630429	131630429	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:131630429G>T	ENST00000200652.3	+	1	294	c.120G>T	c.(118-120)gtG>gtT	p.V40V	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	40					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)	TGTCAGTCGTGTTCCTGGCGG	0.662																																					p.V40V		.											.	.	.	0			c.G120T						.						52	59	57					5																	131630429		2203	4300	6503	SO:0001819	synonymous_variant	6583	exon1			AGTCGTGTTCCTG	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.120G>T	5.37:g.131630429G>T		19	0		47	4	NM_003059	O14546	Silent	SNP	ENST00000200652.3	37	CCDS4153.1																																																																																			.		0.662	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		T	131630429	G	T	131630429	2	4	7	1	0	0	0	0	0	0	0	1	14501	1364	48	3		3	SLC22A4	5	131630429	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	3989167	131630429	49284831	48	1007											
PCDHA4	56144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140188641	140188641	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:140188641C>T	ENST00000530339.1	+	1	1869	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.R623R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	623	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)	p.R623R(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)			TCCCGTTCCGCGTGGGGCTGT	0.672																																					p.R623R		.											PCDHA4_ENST00000530339,NS,carcinoma,0,4	PCDHA4_ENST00000530339	0	2	Substitution - coding silent(2)	prostate(2)	c.C1869T						.						90	89	89					5																	140188641		2203	4299	6502	SO:0001819	synonymous_variant	56144	exon1			GTTCCGCGTGGGG	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.1869C>T	5.37:g.140188641C>T		44	0		80	8	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			.		0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188641	C	T	140188641	2	4	7	1	0	0	0	0	0	0	0	1	11565	755	27	1		1	PCDHA4	5	140188641	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	8558212	140188641	40726619	49	1008											
RNF14	9604	hgsc.bcm.edu	37	5	141353306	141353306	+	Splice_Site	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:141353306C>T	ENST00000394520.2	+	3	462	c.153C>T	c.(151-153)agC>agT	p.S51S	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000356143.1_Splice_Site_p.S51S|RNF14_ENST00000347642.3_Splice_Site_p.S51S|RNF14_ENST00000394515.3_Splice_Site_p.S51S|RNF14_ENST00000394519.1_Splice_Site_p.S51S|RNF14_ENST00000540015.1_Splice_Site_p.S51S	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	51	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TATTTGTGAGCGGTTAGTTAA	0.318																																					p.S51S		.											RNF14,NS,carcinoma,0,1	RNF14	0	0			c.C153T						.						54	57	56					5																	141353306		2201	4300	6501	SO:0001630	splice_region_variant	9604	exon3			TGTGAGCGGTTAG	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.154+1C>T	5.37:g.141353306C>T		48	0		95	4	NM_001201365	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP	ENST00000394520.2	37	CCDS4270.1																																																																																			.		0.318	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290	Silent	T	141353306	C	T	141353306	5	4	7	1	0	0	0	0	0	0	1	0	13488	782	27	1	155	1	RNF14	5	141353306	Splice_Site	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	1164665	141353306	39561954	50	1009											
PECI	10455	hgsc.bcm.edu;broad.mit.edu	37	6	4133832	4133832	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:4133832T>C	ENST00000380118.3	-	2	200	c.164A>G	c.(163-165)aAg>aGg	p.K55R	RP3-400B16.1_ENST00000427049.2_lincRNA|ECI2_ENST00000465828.1_Missense_Mutation_p.K25R|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	55	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				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						TCCTGGATCCTTTTTCAAGAG	0.398																																					p.K55R		.											ECI2_ENST00000380118,NS,malignant_melanoma,0,2	ECI2_ENST00000380118	0	0			c.A164G						.						217	201	206					6																	4133832		2203	4300	6503	SO:0001583	missense	10455	exon2			GGATCCTTTTTCA	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.164A>G	6.37:g.4133832T>C	ENSP00000369461:p.Lys55Arg	45	1		89	4	NM_206836	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191753	0.78902	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.98	5.98	0.97165	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	21.516500	0.00166	N	0.000000	T	0.31796	0.0808	M	0.78223	2.4	0.80722	D	1	B	0.20988	0.05	B	0.35899	0.213	T	0.34850	-0.9812	10	0.54805	T	0.06	.	14.4143	0.67139	0.0:0.0:0.0:1.0	.	55	O75521	ECI2_HUMAN	R	55;25;25;25;102	ENSP00000369461:K55R;ENSP00000369468:K25R;ENSP00000354737:K25R;ENSP00000420309:K25R;ENSP00000417459:K102R	ENSP00000354737:K25R	K	-	2	0	ECI2	4078831	0.659000	0.27411	0.999000	0.59377	0.997000	0.91878	3.003000	0.49505	2.289000	0.77006	0.533000	0.62120	AAG	.		0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		C	4133832	T	C	4133832	3	2	7	1	0	0	0	0	1	0	0	0	11755	1609	56	4	1056	4	PECI	6	4133832	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09		4133832	166981235	51	1010											
MUC21	394263	bcgsc.ca	37	6	30954572	30954572	+	Missense_Mutation	SNP	C	C	T	rs146037191		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:30954572C>T	ENST00000376296.3	+	2	861	c.620C>T	c.(619-621)gCc>gTc	p.A207V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	207	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.A207V(2)		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						TCCAGTGGGGCCAGCACAGCC	0.627																																					p.A207V													MUC21,NS,malignant_melanoma,0,2	MUC21	98	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C620T						.						152	149	150					6																	30954572		2203	4300	6503	SO:0001583	missense	394263	exon2			GTGGGGCCAGCAC	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.620C>T	6.37:g.30954572C>T	ENSP00000365473:p.Ala207Val	72	2		99	8	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	8.950	0.968056	0.18659	.	.	ENSG00000204544	ENST00000376296	T	0.02737	4.18	3.86	-1.98	0.07480	.	.	.	.	.	T	0.00356	0.0011	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45190	-0.9278	8	.	.	.	-2.1025	0.8413	0.01150	0.1528:0.2516:0.2999:0.2958	.	207	Q5SSG8	MUC21_HUMAN	V	207	ENSP00000365473:A207V	.	A	+	2	0	MUC21	31062551	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.003000	0.12901	-0.201000	0.10284	-0.424000	0.05967	GCC	C|0.998;T|0.002		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30954572	C	T	30954572	3	4	7	1	0	0	0	0	1	0	0	0	10015	739	26	3	626	3	MUC21	6	30954572	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	26820740	30954572	140160495	52	1011											
GCM1	8521	hgsc.bcm.edu	37	6	52993290	52993290	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:52993290G>T	ENST00000259803.7	-	6	1236	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	342					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGCTCCAATGGAAGCTGCTG	0.468																																					p.P342Q		.											GCM1,rectum,carcinoma,0,1	GCM1	0	0			c.C1025A						.						68	74	72					6																	52993290		2203	4300	6503	SO:0001583	missense	8521	exon6			TCCAATGGAAGCT	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1025C>A	6.37:g.52993290G>T	ENSP00000259803:p.Pro342Gln	24	0		56	3	NM_003643	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512004	0.64522	.	.	ENSG00000137270	ENST00000259803	T	0.77098	-1.07	5.73	4.86	0.63082	.	0.168763	0.41712	D	0.000834	T	0.73674	0.3617	L	0.36672	1.1	0.30988	N	0.721787	D	0.76494	0.999	D	0.70716	0.97	T	0.74200	-0.3742	10	0.66056	D	0.02	0.0486	10.2101	0.43136	0.1563:0.0:0.8437:0.0	.	342	Q9NP62	GCM1_HUMAN	Q	342	ENSP00000259803:P342Q	ENSP00000259803:P342Q	P	-	2	0	GCM1	53101249	0.869000	0.29996	0.962000	0.40283	0.885000	0.51271	3.822000	0.55708	1.444000	0.47605	0.591000	0.81541	CCA	.		0.468	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			T	52993290	G	T	52993290	3	4	7	1	0	0	0	0	1	0	0	0	6322	1348	47	3	289	3	GCM1	6	52993290	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	22038718	52993290	118121777	53	1012											
PHIP	55023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	79679836	79679836	+	Missense_Mutation	SNP	G	G	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:79679836G>C	ENST00000275034.4	-	26	3219	c.3052C>G	c.(3052-3054)Ctt>Gtt	p.L1018V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1018	Mediates interaction with IRS1. {ECO:0000250}.				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)		AGGCAGCAAAGGGTAGGTAAT	0.378																																					p.L1018V		.											.	.	.	0			c.C3052G						.						129	129	129					6																	79679836		2203	4300	6503	SO:0001583	missense	55023	exon26			AGCAAAGGGTAGG	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.3052C>G	6.37:g.79679836G>C	ENSP00000275034:p.Leu1018Val	43	0		67	47	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658786	0.67586	.	.	ENSG00000146247	ENST00000275034	T	0.40225	1.04	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000016	T	0.33962	0.0881	M	0.62209	1.925	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.46796	0.527;0.527	T	0.16630	-1.0396	9	.	.	.	-9.0869	11.793	0.52080	0.0798:0.0:0.9202:0.0	.	1018;1018	A7J992;Q8WWQ0	.;PHIP_HUMAN	V	1018	ENSP00000275034:L1018V	.	L	-	1	0	PHIP	79736555	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	9.476000	0.97823	2.591000	0.87537	0.557000	0.71058	CTT	.		0.378	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			C	79679836	G	C	79679836	3	2	7	1	0	0	0	0	1	0	0	0	11881	1000	35	5	2473	5	PHIP	6	79679836	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	26686546	79679836	91435231	54	1013											
ME1	4199	hgsc.bcm.edu	37	6	84061833	84061833	+	Silent	SNP	G	G	T	rs562654415		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:84061833G>T	ENST00000369705.3	-	4	504	c.388C>A	c.(388-390)Cga>Aga	p.R130R	ME1_ENST00000541327.1_5'UTR|ME1_ENST00000543031.1_Silent_p.R55R	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	130					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		ATATGCCCTCGATCGTGGATA	0.343																																					p.R130R		.											ME1,mucosal,malignant_melanoma,0,1	ME1	0	0			c.C388A						.						57	49	51					6																	84061833		2203	4299	6502	SO:0001819	synonymous_variant	4199	exon4			GCCCTCGATCGTG	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.388C>A	6.37:g.84061833G>T		12	0		25	2	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	CCDS34492.1																																																																																			.		0.343	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			T	84061833	G	T	84061833	2	4	7	1	0	0	0	0	0	0	0	1	9455	1066	37	2		2	ME1	6	84061833	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	4381997	84061833	87053234	55	1014											
RPS6KA2	6196	hgsc.bcm.edu	37	6	166918040	166918040	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:166918040G>T	ENST00000265678.4	-	6	743	c.520C>A	c.(520-522)Cat>Aat	p.H174N	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.H182N|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.H199N|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.H85N|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.H20N|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.H85N	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	174	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)	p.H174I(1)|p.H182I(1)|p.H182N(1)|p.H174N(1)		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)		CTGTGGAGATGGTCTAAAGCC	0.448																																					p.H182N		.											RPS6KA2_ENST00000503859,NS,carcinoma,+1,2	RPS6KA2_ENST00000503859	+1	4	Substitution - Missense(4)	lung(4)	c.C544A						.						137	123	128					6																	166918040		2203	4300	6503	SO:0001583	missense	6196	exon7			GGAGATGGTCTAA	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.520C>A	6.37:g.166918040G>T	ENSP00000265678:p.His174Asn	27	0		38	2	NM_001006932	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014058	0.75161	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863;ENST00000507350;ENST00000512860	T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.03	5.03	0.67393	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	0.80193	0.4578	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.994;0.969;0.999	D;D;D	0.85130	0.971;0.912;0.997	D	0.83410	0.0027	10	0.87932	D	0	.	17.35	0.87321	0.0:0.0:1.0:0.0	.	199;182;174	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	N	174;199;182;85;85;20;85;85	ENSP00000265678:H174N;ENSP00000422435:H199N;ENSP00000427015:H182N;ENSP00000422484:H85N;ENSP00000386050:H85N;ENSP00000355828:H20N;ENSP00000422197:H85N;ENSP00000427605:H85N	ENSP00000265678:H174N	H	-	1	0	RPS6KA2	166838030	1.000000	0.71417	0.947000	0.38551	0.495000	0.33615	9.123000	0.94387	2.350000	0.79820	0.484000	0.47621	CAT	.		0.448	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		T	166918040	G	T	166918040	3	4	7	1	0	0	0	0	1	0	0	0	13696	1348	47	3	1745	3	RPS6KA2	6	166918040	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	82856207	166918040	4197027	56	1015											
ACTB	60	hgsc.bcm.edu	37	7	5567663	5567663	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:5567663G>A	ENST00000331789.5	-	5	1147	c.956C>T	c.(955-957)gCc>gTc	p.A319V	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	319					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)		GGGTGCCAGGGCAGTGATCTC	0.602																																					p.A319V		.											.	.	.	0			c.C956T						.						140	133	136					7																	5567663		2203	4300	6503	SO:0001583	missense	60	exon5			GCCAGGGCAGTGA	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.956C>T	7.37:g.5567663G>A	ENSP00000349960:p.Ala319Val	37	0		53	4	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189280	0.21954	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94758	-3.51	5.55	3.74	0.42951	.	0.000000	0.64402	D	0.000019	D	0.94565	0.8249	M	0.90870	3.155	0.41226	D	0.986547	B	0.02656	0.0	B	0.09377	0.004	D	0.91774	0.5430	10	0.87932	D	0	.	9.5592	0.39357	0.0747:0.0:0.7828:0.1425	.	319	P60709	ACTB_HUMAN	V	319;295;291;238	ENSP00000349960:A319V	ENSP00000440549:A238V	A	-	2	0	ACTB	5534189	1.000000	0.71417	0.798000	0.32154	0.519000	0.34347	7.667000	0.83888	0.708000	0.31955	-0.141000	0.14075	GCC	.		0.602	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		A	5567663	G	A	5567663	3	1	7	1	0	0	0	0	1	0	0	0	193	1203	42	3	179	3	ACTB	7	5567663	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		5567663	153571000	57	1016											
GARS	2617	bcgsc.ca	37	7	30662040	30662040	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:30662040C>T	ENST00000389266.3	+	12	1816	c.1575C>T	c.(1573-1575)tgC>tgT	p.C525C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	525					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)	GTGATGAGTGCTACATTACAG	0.423																																					p.C525C													.	GARS	52	0			c.C1575T						.						218	203	208					7																	30662040		1948	4156	6104	SO:0001819	synonymous_variant	2617	exon12			TGAGTGCTACATT	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.1575C>T	7.37:g.30662040C>T		41	0		58	4	NM_002047	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			.		0.423	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		T	30662040	C	T	30662040	2	4	7	1	0	0	0	0	0	0	0	1	6267	805	28	3		3	GARS	7	30662040	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	25094377	30662040	128476623	58	1017											
ABCB1	5243	bcgsc.ca	37	7	87229482	87229482	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:87229482G>T	ENST00000265724.3	-	3	436	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	ABCB1_ENST00000543898.1_Missense_Mutation_p.R7S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	7					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)	CCTCCATTGCGGTCCCCTTCA	0.438																																					p.R7S													.	ABCB1	263	0			c.C19A						.						89	85	86					7																	87229482		2203	4300	6503	SO:0001583	missense	5243	exon3			CATTGCGGTCCCC	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.19C>A	7.37:g.87229482G>T	ENSP00000265724:p.Arg7Ser	28	0		54	4	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	5.035	0.192138	0.09599	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177;ENST00000394661	D;D;T	0.87179	-2.17;-2.22;1.95	3.86	0.635	0.17723	.	4.454590	0.00725	N	0.000913	T	0.74419	0.3714	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.61983	-0.6950	10	0.22109	T	0.4	3.7449	6.342	0.21328	0.0:0.1689:0.3808:0.4503	.	7;7	B5AK60;P08183	.;MDR1_HUMAN	S	7	ENSP00000265724:R7S;ENSP00000444095:R7S;ENSP00000399419:R7S	ENSP00000265724:R7S	R	-	1	0	ABCB1	87067418	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.415000	0.07106	0.105000	0.17753	-0.169000	0.13324	CGC	.		0.438	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87229482	G	T	87229482	3	4	7	1	0	0	0	0	1	0	0	0	40	1116	39	2	3931	2	ABCB1	7	87229482	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	56567442	87229482	71909181	59	1018											
ZCWPW1	55063	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	100014767	100014767	+	Missense_Mutation	SNP	G	G	A	rs370621347		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:100014767G>A	ENST00000398027.2	-	6	648	c.401C>T	c.(400-402)gCc>gTc	p.A134V	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.A134V|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A13V|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A13V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	134							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACGGGCTGGGCACAAGAAGT	0.423																																					p.A134V		.											ZCWPW1,NS,carcinoma,0,1	ZCWPW1	0	0			c.C401T						.						125	115	118					7																	100014767		1883	4107	5990	SO:0001583	missense	55063	exon6			GGCTGGGCACAAG	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.401C>T	7.37:g.100014767G>A	ENSP00000381109:p.Ala134Val	35	0		67	4	NM_001258008	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	3.732	-0.055348	0.07362	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.39406	1.11;1.13;1.08;1.13	4.48	2.47	0.30058	.	0.924705	0.08995	N	0.863890	T	0.29945	0.0749	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.20887	0.029;0.01;0.01;0.01;0.049	B;B;B;B;B	0.20184	0.008;0.007;0.005;0.005;0.028	T	0.23476	-1.0187	9	.	.	.	-0.028	4.798	0.13282	0.3475:0.0:0.6525:0.0	.	134;94;135;134;13	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	V	134;13;134;13;135	ENSP00000381109:A134V;ENSP00000419187:A13V;ENSP00000354210:A134V;ENSP00000314880:A13V	.	A	-	2	0	ZCWPW1	99852703	0.990000	0.36364	0.424000	0.26647	0.511000	0.34104	1.146000	0.31589	1.063000	0.40649	0.643000	0.83706	GCC	.		0.423	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		A	100014767	G	A	100014767	3	1	7	1	0	0	0	0	1	0	0	0	17645	1203	42	3	1597	3	ZCWPW1	7	100014767	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	12785285	100014767	59123896	60	1019											
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	131888134	131888134	+	Missense_Mutation	SNP	C	C	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:131888134C>G	ENST00000359827.3	-	11	3305	c.2343G>C	c.(2341-2343)ttG>ttC	p.L781F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L781F			Q9HCM2	PLXA4_HUMAN	plexin A4	781					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						ACACGACTGTCAACTCCACGG	0.552																																					p.L781F		.											.	.	.	0			c.G2343C						.						118	115	116					7																	131888134		1956	4136	6092	SO:0001583	missense	91584	exon11			GACTGTCAACTCC	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.2343G>C	7.37:g.131888134C>G	ENSP00000352882:p.Leu781Phe	32	0		48	11	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534689	0.04082	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.65549	-0.16;-0.16	4.76	2.77	0.32553	.	0.000000	0.64402	D	0.000002	T	0.39118	0.1066	N	0.16307	0.4	0.53688	D	0.999971	B	0.11235	0.004	B	0.12837	0.008	T	0.12167	-1.0558	10	0.10111	T	0.7	.	9.0025	0.36090	0.0:0.6413:0.2812:0.0775	.	781	Q9HCM2	PLXA4_HUMAN	F	781	ENSP00000323194:L781F;ENSP00000352882:L781F	ENSP00000323194:L781F	L	-	3	2	PLXNA4	131538674	1.000000	0.71417	0.952000	0.39060	0.754000	0.42855	1.483000	0.35497	1.098000	0.41479	0.561000	0.74099	TTG	.		0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		G	131888134	C	G	131888134	3	3	7	1	0	0	0	0	1	0	0	0	12161	825	29	5	3429	5	PLXNA4	7	131888134	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	31873367	131888134	27250529	61	1020											
TRYX3	136541	hgsc.bcm.edu;ucsc.edu	37	7	141954901	141954901	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:141954901G>T	ENST00000552471.1	-	3	729	c.410C>A	c.(409-411)aCc>aAc	p.T137N	PRSS58_ENST00000547058.2_Missense_Mutation_p.T137N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GTAGCTCCAGGTAGAGACAGA	0.418																																					p.T137N		.											.	.	.	0			c.C410A						.						237	213	221					7																	141954901		2203	4300	6503	SO:0001583	missense	136541	exon4			CTCCAGGTAGAGA		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.410C>A	7.37:g.141954901G>T	ENSP00000446916:p.Thr137Asn	11	0		26	4	NM_001001317	B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542254	0.45280	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81330	-1.48;-1.48	4.93	3.98	0.46160	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.87505	0.6194	M	0.72894	2.215	0.40507	D	0.980702	D	0.89917	1.0	D	0.85130	0.997	D	0.88082	0.2807	9	0.87932	D	0	.	11.2574	0.49063	0.0:0.2828:0.7172:0.0	.	137	Q8IYP2	PRS58_HUMAN	N	137	ENSP00000447588:T137N;ENSP00000446916:T137N	ENSP00000307206:T137N	T	-	2	0	PRSS58	141601378	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	4.381000	0.59587	2.732000	0.93576	0.655000	0.94253	ACC	.		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		T	141954901	G	T	141954901	3	4	7	1	0	0	0	0	1	0	0	0	16652	1261	44	3	327	3	TRYX3	7	141954901	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	10066767	141954901	17183762	62	1021											
KCNU1	157855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	36793039	36793039	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:36793039G>T	ENST00000399881.3	+	27	3088	c.3051G>T	c.(3049-3051)gtG>gtT	p.V1017V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1017					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)		ACAGGTTTGTGATCACCCGGC	0.473																																					p.V1017V		.											.	.	.	0			c.G3051T						.						101	99	99					8																	36793039		1936	4157	6093	SO:0001819	synonymous_variant	157855	exon27			GTTTGTGATCACC	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.3051G>T	8.37:g.36793039G>T		24	0		57	9	NM_001031836		Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																			.		0.473	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		T	36793039	G	T	36793039	2	4	7	1	0	0	0	0	0	0	0	1	8120	1277	45	3		3	KCNU1	8	36793039	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		36793039	109570983	63	1022											
ADAM32	203102	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	39114753	39114753	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:39114753C>A	ENST00000379907.4	+	19	2180	c.2053C>A	c.(2053-2055)Cta>Ata	p.L685I	ADAM32_ENST00000519315.1_Missense_Mutation_p.L579I|ADAM32_ENST00000437682.2_Missense_Mutation_p.L586I	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	685						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)			CACCTGGCTTCTAGGTTTCCT	0.358																																					p.L685I		.											.	.	.	0			c.C2053A						.						101	102	101					8																	39114753		1823	4082	5905	SO:0001583	missense	203102	exon19			TGGCTTCTAGGTT	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.2053C>A	8.37:g.39114753C>A	ENSP00000369238:p.Leu685Ile	38	0		98	10	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388024	0.42308	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.94232	-3.38;-3.38;-3.38	4.39	1.4	0.22301	.	0.000000	0.27019	N	0.021334	D	0.92211	0.7530	L	0.35644	1.08	0.19575	N	0.999963	D;D;P;P	0.89917	0.999;1.0;0.678;0.876	D;D;B;B	0.85130	0.991;0.997;0.235;0.338	D	0.83445	0.0045	10	0.18276	T	0.48	.	6.1684	0.20404	0.0:0.6468:0.0:0.3532	.	586;109;579;685	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	I	586;579;685	ENSP00000405978:L586I;ENSP00000429422:L579I;ENSP00000369238:L685I	ENSP00000369238:L685I	L	+	1	2	ADAM32	39233910	0.922000	0.31269	0.420000	0.26596	0.104000	0.19210	0.420000	0.21263	0.299000	0.22661	0.655000	0.94253	CTA	.		0.358	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		A	39114753	C	A	39114753	3	1	7	1	0	0	0	0	1	0	0	0	249	912	32	3	2127	3	ADAM32	8	39114753	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	2321714	39114753	107249269	64	1023											
KCNB2	9312	hgsc.bcm.edu;broad.mit.edu	37	8	73849914	73849914	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:73849914C>T	ENST00000523207.1	+	3	2912	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	775					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)	GAGGTTTCAGCGCCTTGTCAG	0.537																																					p.A775V		.											KCNB2,NS,carcinoma,0,1	KCNB2	0	0			c.C2324T						.						52	58	56					8																	73849914		2203	4300	6503	SO:0001583	missense	9312	exon3			TTTCAGCGCCTTG	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.2324C>T	8.37:g.73849914C>T	ENSP00000430846:p.Ala775Val	9	0		28	3	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	5.642	0.303067	0.10678	.	.	ENSG00000182674	ENST00000523207	D	0.96992	-4.2	4.91	4.0	0.46444	.	2.211580	0.02297	N	0.070878	D	0.91175	0.7220	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.81324	-0.0984	10	0.09590	T	0.72	.	5.4488	0.16550	0.1224:0.5985:0.1944:0.0848	.	775	Q92953	KCNB2_HUMAN	V	775	ENSP00000430846:A775V	ENSP00000430846:A775V	A	+	2	0	KCNB2	74012468	0.001000	0.12720	0.050000	0.19076	0.946000	0.59487	0.631000	0.24568	2.540000	0.85666	0.591000	0.81541	GCG	.		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73849914	C	T	73849914	3	4	7	1	0	0	0	0	1	0	0	0	8040	768	27	1	2330	1	KCNB2	8	73849914	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	34735161	73849914	72514108	65	1024											
SLC26A7	115111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	92346590	92346590	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:92346590G>A	ENST00000276609.3	+	6	949	c.710G>A	c.(709-711)aGc>aAc	p.S237N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.S237N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.S237N	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)			TCCTTGCTGAGCATTGTGGTC	0.313																																					p.S237N		.											.	.	.	0			c.G710A						.						165	153	157					8																	92346590		2202	4300	6502	SO:0001583	missense	115111	exon6			TGCTGAGCATTGT	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.710G>A	8.37:g.92346590G>A	ENSP00000276609:p.Ser237Asn	62	0		158	68	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.314427|4.314427	0.81358|0.81358	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000520818|ENST00000523719;ENST00000276609;ENST00000309536	.|D;D;D	.|0.93076	.|-3.16;-3.16;-3.16	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Sulphate transporter (1);	.|0.059869	.|0.64402	.|D	.|0.000001	D|D	0.96002|0.96002	0.8698|0.8698	M|M	0.69358|0.69358	2.11|2.11	0.39993|0.39993	D|D	0.975067|0.975067	.|D;D	.|0.76494	.|0.999;0.997	.|D;D	.|0.68943	.|0.961;0.932	D|D	0.94297|0.94297	0.7534|0.7534	5|10	.|0.27082	.|T	.|0.32	.|.	19.922|19.922	0.97089|0.97089	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|237;237	.|Q8TE54-2;Q8TE54	.|.;S26A7_HUMAN	T|N	105|237	.|ENSP00000428849:S237N;ENSP00000276609:S237N;ENSP00000309504:S237N	.|ENSP00000276609:S237N	A|S	+|+	1|2	0|0	SLC26A7|SLC26A7	92415766|92415766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.417000|6.417000	0.73337|0.73337	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.313	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			A	92346590	G	A	92346590	3	1	7	1	0	0	0	0	1	0	0	0	14567	971	34	3	728	3	SLC26A7	8	92346590	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	18496676	92346590	54017432	66	1025											
MPDZ	8777	hgsc.bcm.edu	37	9	13176150	13176150	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:13176150G>T	ENST00000319217.7	-	20	3163	c.2916C>A	c.(2914-2916)ccC>ccA	p.P972P	MPDZ_ENST00000541718.1_Silent_p.P972P|MPDZ_ENST00000546205.1_Silent_p.P972P|MPDZ_ENST00000447879.1_Silent_p.P972P|MPDZ_ENST00000381015.4_Silent_p.P972P|MPDZ_ENST00000536827.1_Silent_p.P972P|MPDZ_ENST00000381022.2_Silent_p.P972P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	972					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.P972P(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)		CAGCTGAATCGGGTAGCACAG	0.348																																					p.P972P		.											MPDZ_ENST00000541718,NS,carcinoma,0,2	MPDZ_ENST00000541718	0	2	Substitution - coding silent(2)	lung(2)	c.C2916A						.						83	68	73					9																	13176150		1839	4088	5927	SO:0001819	synonymous_variant	8777	exon20			TGAATCGGGTAGC	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.2916C>A	9.37:g.13176150G>T		34	0		59	3	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																				.		0.348	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		T	13176150	G	T	13176150	2	4	7	1	0	0	0	0	0	0	0	1	9760	1103	39	2		2	MPDZ	9	13176150	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		13176150	128037281	67	1026											
VCP	7415	hgsc.bcm.edu	37	9	35060888	35060888	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:35060888C>T	ENST00000358901.6	-	12	2287	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	464					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGGTTTCCCGCAGTGCTGATG	0.552																																					p.L464L		.											.	.	.	0			c.G1392A						.						137	125	129					9																	35060888		2203	4300	6503	SO:0001819	synonymous_variant	7415	exon12			TTCCCGCAGTGCT	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1392G>A	9.37:g.35060888C>T		45	0		85	3	NM_007126	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	CCDS6573.1																																																																																			.		0.552	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		T	35060888	C	T	35060888	2	4	7	1	0	0	0	0	0	0	0	1	17189	697	25	3		3	VCP	9	35060888	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	21884738	35060888	106152543	68	1027											
GCNT1	2650	hgsc.bcm.edu	37	9	79117954	79117954	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:79117954G>T	ENST00000376730.4	+	4	1140	c.657G>T	c.(655-657)atG>atT	p.M219I	GCNT1_ENST00000442371.1_Missense_Mutation_p.M219I|GCNT1_ENST00000444201.2_Missense_Mutation_p.M219I|GCNT1_ENST00000536223.1_Missense_Mutation_p.M219I	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	219	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						TTTGTGGTATGGATTTTCCCA	0.428																																					p.M219I		.											GCNT1,NS,malignant_melanoma,0,2	GCNT1	0	0			c.G657T						.						69	68	68					9																	79117954		2203	4300	6503	SO:0001583	missense	2650	exon4			TGGTATGGATTTT	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.657G>T	9.37:g.79117954G>T	ENSP00000365920:p.Met219Ile	37	0		43	2	NM_001490	Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	g	18.57	3.652814	0.67472	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	6.07	5.18	0.71444	.	0.088174	0.85682	D	0.000000	T	0.18718	0.0449	M	0.63428	1.95	0.54753	D	0.99998	P	0.42161	0.772	P	0.45377	0.478	T	0.01093	-1.1454	9	.	.	.	.	15.3604	0.74469	0.0664:0.0:0.9336:0.0	.	219	Q02742	GCNT1_HUMAN	I	219	ENSP00000440883:M219I;ENSP00000415454:M219I;ENSP00000390703:M219I;ENSP00000365920:M219I	.	M	+	3	0	GCNT1	78307774	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	4.191000	0.58372	1.586000	0.49944	0.655000	0.94253	ATG	.		0.428	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		T	79117954	G	T	79117954	3	4	7	1	0	0	0	0	1	0	0	0	6325	1348	47	3	659	3	GCNT1	9	79117954	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	44057066	79117954	62095477	69	1028											
OR13F1	138805	hgsc.bcm.edu	37	9	107267255	107267255	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:107267255T>C	ENST00000334726.2	+	1	801	c.712T>C	c.(712-714)Ttt>Ctt	p.F238L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, 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)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGTAAAGCCTTTTCAACGTG	0.478																																					p.F238L		.											.	.	.	0			c.T712C						.						187	170	176					9																	107267255		2203	4300	6503	SO:0001583	missense	138805	exon1			AAAGCCTTTTCAA		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.712T>C	9.37:g.107267255T>C	ENSP00000334452:p.Phe238Leu	32	0		52	4	NM_001004485	Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099683	0.56183	.	.	ENSG00000186881	ENST00000334726	T	0.00269	8.37	4.3	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.00412	0.0013	M	0.73598	2.24	0.32955	D	0.520255	D	0.61697	0.99	P	0.62491	0.903	T	0.56836	-0.7913	10	0.72032	D	0.01	.	8.7372	0.34537	0.1695:0.0:0.0:0.8304	.	238	Q8NGS4	O13F1_HUMAN	L	238	ENSP00000334452:F238L	ENSP00000334452:F238L	F	+	1	0	OR13F1	106307076	0.939000	0.31865	1.000000	0.80357	0.727000	0.41649	0.771000	0.26633	0.942000	0.37525	0.533000	0.62120	TTT	.		0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			C	107267255	T	C	107267255	3	2	7	1	0	0	0	0	1	0	0	0	10980	1609	56	4	714	4	OR13F1	9	107267255	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	28149301	107267255	33946176	70	1029											
COL5A1	1289	hgsc.bcm.edu	37	9	137582891	137582891	+	Silent	SNP	G	G	A	rs540291731		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:137582891G>A	ENST00000371817.3	+	2	657	c.243G>A	c.(241-243)gcG>gcA	p.A81A	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	81	Laminin G-like.				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)		CCAAAGACGCGCAGCTCAGCG	0.597													G|||	1	0.000199681	0	0	5008	,	,		17314	0		0	False		,,,				2504	0.001				p.A81A		.											COL5A1,NS,carcinoma,0,1	COL5A1	0	0			c.G243A						.						86	75	79					9																	137582891		2203	4300	6503	SO:0001819	synonymous_variant	1289	exon2			AGACGCGCAGCTC	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.243G>A	9.37:g.137582891G>A		22	0		41	3	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			.		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137582891	G	A	137582891	2	1	7	1	0	0	0	0	0	0	0	1	3703	1074	38	1		1	COL5A1	9	137582891	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	30315636	137582891	3630540	71	1030											
LCN12	286256	hgsc.bcm.edu	37	9	139846784	139846784	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:139846784G>T	ENST00000371633.3	+	1	5	c.5G>T	c.(4-6)aGg>aTg	p.R2M		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	2					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	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)		GCCAGGATGAGGCTGCTGTGT	0.637																																					p.R2M		.											.	.	.	0			c.G5T						.						17	24	22					9																	139846784		2064	4207	6271	SO:0001583	missense	286256	exon1			GGATGAGGCTGCT	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.5G>T	9.37:g.139846784G>T	ENSP00000360696:p.Arg2Met	55	0		65	3	NM_178536	A2AMJ7	Missense_Mutation	SNP	ENST00000371633.3	37	CCDS7018.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395827	0.25205	.	.	ENSG00000184925	ENST00000371633	T	0.49720	0.77	3.88	2.97	0.34412	.	0.509292	0.14524	N	0.314290	T	0.42154	0.1190	L	0.36672	1.1	0.09310	N	1	D;B	0.56521	0.976;0.147	P;B	0.49829	0.623;0.023	T	0.21586	-1.0241	10	0.56958	D	0.05	-7.9354	5.5467	0.17067	0.1105:0.0:0.6947:0.1948	.	2;2	Q8IW14;Q6JVE5	.;LCN12_HUMAN	M	2	ENSP00000360696:R2M	ENSP00000360696:R2M	R	+	2	0	LCN12	138966605	0.015000	0.18098	0.113000	0.21522	0.028000	0.11728	0.199000	0.17237	0.929000	0.37192	0.462000	0.41574	AGG	.		0.637	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		T	139846784	G	T	139846784	3	4	7	1	0	0	0	0	1	0	0	0	8710	1000	35	3	7	3	LCN12	9	139846784	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	2263893	139846784	1366647	72	1031											
ITGA8	8516	ucsc.edu	37	10	15649688	15649688	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr10:15649688G>A	ENST00000378076.3	-	17	2105	c.1752C>T	c.(1750-1752)atC>atT	p.I584I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	584					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|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)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAAGGTAAACGATGAAATCCT	0.433																																					p.I584I													.	ITGA8	230	0			c.C1752T						.						217	229	225					10																	15649688		2203	4300	6503	SO:0001819	synonymous_variant	8516	exon17			GTAAACGATGAAA	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1752C>T	10.37:g.15649688G>A		17	0		37	4	NM_003638	B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	CCDS31155.1																																																																																			.		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15649688	G	A	15649688	2	1	7	1	0	0	0	0	0	0	0	1	7909	1048	37	1		1	ITGA8	10	15649688	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		15649688	119885059	73	1032											
ADK	132	hgsc.bcm.edu;bcgsc.ca	37	10	76285055	76285055	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr10:76285055G>T	ENST00000286621.2	+	7	647	c.597G>T	c.(595-597)gtG>gtT	p.V199V	RP11-46O21.2_ENST00000595410.1_RNA|ADK_ENST00000372734.3_Silent_p.V182V|ADK_ENST00000539909.1_Intron|RP11-46O21.2_ENST00000448214.3_RNA|RP11-46O21.2_ENST00000609392.1_RNA|ADK_ENST00000541550.1_Silent_p.V164V	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	199					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	TATTAAAGGTGGCTCACCATG	0.393																																					p.V199V		.											.	.	.	0			c.G597T						.						144	146	145					10																	76285055		2203	4300	6503	SO:0001819	synonymous_variant	132	exon7			AAAGGTGGCTCAC	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"adenosine 5'-phosphotransferase"	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.597G>T	10.37:g.76285055G>T		26	0		49	4	NM_006721	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Silent	SNP	ENST00000286621.2	37	CCDS7343.1																																																																																			.		0.393	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721		T	76285055	G	T	76285055	2	4	7	1	0	0	0	0	0	0	0	1	320	1335	47	3		3	ADK	10	76285055	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	60635367	76285055	59249692	74	1033											
DPYSL4	10570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	134006179	134006179	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr10:134006179T>C	ENST00000338492.4	+	3	310	c.146T>C	c.(145-147)cTc>cCc	p.L49P	DPYSL4_ENST00000368627.1_5'Flank|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	49					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)		GGAGAAAACCTCATCGTCCCT	0.577																																					p.L49P		.											.	.	.	0			c.T146C						.						92	84	87					10																	134006179		2202	4300	6502	SO:0001583	missense	10570	exon3			AAAACCTCATCGT	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.146T>C	10.37:g.134006179T>C	ENSP00000339850:p.Leu49Pro	37	0		45	5	NM_006426	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249496	0.80024	.	.	ENSG00000151640	ENST00000338492	D	0.88124	-2.34	4.92	4.92	0.64577	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.93061	0.7791	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93987	0.7263	10	0.87932	D	0	-25.2141	14.8073	0.69968	0.0:0.0:0.0:1.0	.	49	O14531	DPYL4_HUMAN	P	49	ENSP00000339850:L49P	ENSP00000339850:L49P	L	+	2	0	DPYSL4	133856169	1.000000	0.71417	0.969000	0.41365	0.877000	0.50540	5.721000	0.68477	2.078000	0.62432	0.529000	0.55759	CTC	.		0.577	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			C	134006179	T	C	134006179	3	2	7	1	0	0	0	0	1	0	0	0	4763	1551	54	4	156	4	DPYSL4	10	134006179	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	57721124	134006179	1528568	75	1034											
TSG101	7251	hgsc.bcm.edu	37	11	18536390	18536390	+	Splice_Site	SNP	T	T	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:18536390T>A	ENST00000251968.3	-	4	609		c.e4-2		TSG101_ENST00000536719.1_Splice_Site|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Intron	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ATGTATTACCTGAAAAAGAAA	0.294																																					.	GBM(99;1348 1396 8611 26475 50572)	.											TSG101,NS,carcinoma,0,1	TSG101	0	1	Unknown(1)	lung(1)	c.194-2A>T						.						97	108	105					11																	18536390		2199	4289	6488	SO:0001630	splice_region_variant	7251	exon5			ATTACCTGAAAAA	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.194-2A>T	11.37:g.18536390T>A		45	0		84	4	NM_006292	Q9BUM5	Splice_Site	SNP	ENST00000251968.3	37	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.505763	0.26949	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1205	0.81351	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSG101	18492966	1.000000	0.71417	0.964000	0.40570	0.166000	0.22503	7.919000	0.87513	2.205000	0.71048	0.533000	0.62120	.	.		0.294	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292	Intron	A	18536390	T	A	18536390	5	1	7	1	0	0	0	0	0	0	1	0	16664	1594	55	5	1008	5	TSG101	11	18536390	Splice_Site	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09		18536390	116470126	76	1035											
AMBRA1	55626	hgsc.bcm.edu	37	11	46564499	46564499	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:46564499C>T	ENST00000458649.2	-	7	1486	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	AMBRA1_ENST00000534300.1_Silent_p.S356S|AMBRA1_ENST00000528950.1_Silent_p.S356S|AMBRA1_ENST00000298834.3_Silent_p.S356S|AMBRA1_ENST00000314845.3_Silent_p.S266S|AMBRA1_ENST00000533727.1_Silent_p.S266S|AMBRA1_ENST00000426438.1_Silent_p.S356S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	356					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)		p.S356S(1)|p.S266S(1)		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)		GCTGCGTTGACGAGGCCTGCT	0.622																																					p.S266S		.											AMBRA1_ENST00000458649,colon,carcinoma,0,2	AMBRA1_ENST00000458649	0	2	Substitution - coding silent(2)	large_intestine(2)	c.G798A						.						68	78	74					11																	46564499		2199	4299	6498	SO:0001819	synonymous_variant	55626	exon8			CGTTGACGAGGCC	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.1068G>A	11.37:g.46564499C>T		24	0		32	2	NM_001267783	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37																																																																																				.		0.622	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		T	46564499	C	T	46564499	2	4	7	1	0	0	0	0	0	0	0	1	565	523	19	1		1	AMBRA1	11	46564499	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	28028109	46564499	88442017	77	1036											
ARFGAP2	84364	broad.mit.edu	37	11	47188426	47188426	+	Missense_Mutation	SNP	C	C	T	rs200794218		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:47188426C>T	ENST00000524782.1	-	13	1445	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.R299Q|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.R270Q|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.R137Q|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	406	Required for interaction with coatomer.		R -> W (in dbSNP:rs35950498).		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						CACTTCCCTCCGGTTTGTGGC	0.562																																					p.R406Q													.	ARFGAP2	43	0			c.G1217A						.						113	118	116					11																	47188426		2201	4299	6500	SO:0001583	missense	84364	exon13			TCCCTCCGGTTTG	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.1217G>A	11.37:g.47188426C>T	ENSP00000434442:p.Arg406Gln	13	0		28	3	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202708	0.94997	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342;ENST00000527927	T;T;T;T;T;T	0.25085	3.34;3.48;3.03;3.18;1.92;1.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	T	0.58875	-0.7559	10	0.72032	D	0.01	-9.44	20.2985	0.98592	0.0:1.0:0.0:0.0	.	299;270;406	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	Q	270;406;137;299;113;270	ENSP00000400226:R270Q;ENSP00000434442:R406Q;ENSP00000327309:R137Q;ENSP00000389264:R299Q;ENSP00000437305:R113Q;ENSP00000434433:R270Q	ENSP00000327309:R137Q	R	-	2	0	ARFGAP2	47145002	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	CGG	.		0.562	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		T	47188426	C	T	47188426	3	4	7	1	0	0	0	0	1	0	0	0	850	652	23	1	364	1	ARFGAP2	11	47188426	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	623927	47188426	87818090	78	1037											
FNBP4	23360	hgsc.bcm.edu;broad.mit.edu	37	11	47754203	47754203	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:47754203C>T	ENST00000263773.5	-	11	1718	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	569						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						AGCCCCTTCCCGCCAGTCTGC	0.408																																					p.R569Q		.											.	.	.	0			c.G1706A						.						85	92	90					11																	47754203		1889	4098	5987	SO:0001583	missense	23360	exon11			CCTTCCCGCCAGT	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.1706G>A	11.37:g.47754203C>T	ENSP00000263773:p.Arg569Gln	69	0		98	4	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494719	0.85069	.	.	ENSG00000109920	ENST00000263773	T	0.11604	2.76	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00740	-1.1586	10	0.52906	T	0.07	-16.3095	19.7604	0.96314	0.0:1.0:0.0:0.0	.	569	Q8N3X1	FNBP4_HUMAN	Q	569	ENSP00000263773:R569Q	ENSP00000263773:R569Q	R	-	2	0	FNBP4	47710779	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	CGG	.		0.408	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			T	47754203	C	T	47754203	3	4	7	1	0	0	0	0	1	0	0	0	5989	652	23	1	1375	1	FNBP4	11	47754203	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	565777	47754203	87252313	79	1038											
FAM111B	374393	broad.mit.edu	37	11	58893430	58893430	+	Silent	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:58893430A>G	ENST00000343597.3	+	4	2051	c.1860A>G	c.(1858-1860)gtA>gtG	p.V620V	FAM111B_ENST00000411426.1_Silent_p.V590V|FAM111B_ENST00000529618.1_Silent_p.V590V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	620							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						CCAGTAATGTATACTGTATGT	0.403																																					p.V620V													.	FAM111B	84	0			c.A1860G						.						124	108	113					11																	58893430		2201	4295	6496	SO:0001819	synonymous_variant	374393	exon4			TAATGTATACTGT	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.1860A>G	11.37:g.58893430A>G		43	1		75	3	NM_198947	B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	CCDS7972.1																																																																																			.		0.403	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		G	58893430	A	G	58893430	2	3	7	1	0	0	0	0	0	0	0	1	5419	436	16	4		4	FAM111B	11	58893430	Silent	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	11139227	58893430	76113086	80	1039											
FTH1	2495	hgsc.bcm.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:61734852C>A	ENST00000273550.7	-	1	280	c.46G>T	c.(46-48)Gac>Tac	p.D16Y	AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000532601.1_5'Flank|FTH1_ENST00000529191.1_Missense_Mutation_p.D16Y|FTH1_ENST00000526640.1_Intron|FTH1_ENST00000529631.1_Missense_Mutation_p.D16Y	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697																																					p.D16Y		.											FTH1,NS,malignant_melanoma,0,1	FTH1	0	1	Substitution - Missense(1)	NS(1)	c.G46T						.						10	11	11					11																	61734852		1923	4038	5961	SO:0001583	missense	2495	exon1			CTGAGTCCTGGTG		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.46G>T	11.37:g.61734852C>A	ENSP00000273550:p.Asp16Tyr	22	0		43	2	NM_002032	B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	36	5.640479	0.96693	.	.	ENSG00000167996	ENST00000529191;ENST00000529631;ENST00000530019;ENST00000273550;ENST00000406545	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.76	4.76	0.60689	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.141911	0.64402	D	0.000007	D	0.84097	0.5397	H	0.96142	3.775	0.80722	D	1	P	0.49447	0.924	P	0.52309	0.695	D	0.89969	0.4092	10	0.87932	D	0	.	17.7341	0.88387	0.0:1.0:0.0:0.0	.	16	P02794	FRIH_HUMAN	Y	16;16;16;16;65	ENSP00000431659:D16Y;ENSP00000431575:D16Y;ENSP00000433470:D16Y;ENSP00000273550:D16Y	ENSP00000273550:D16Y	D	-	1	0	FTH1	61491428	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.164000	0.77533	2.319000	0.78375	0.484000	0.47621	GAC	.		0.697	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		A	61734852	C	A	61734852	3	1	7	1	0	0	0	0	1	0	0	0	6106	855	30	3	521	3	FTH1	11	61734852	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	2841422	61734852	73271664	81	1040											
POLA2	23649	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	65046272	65046272	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:65046272A>G	ENST00000265465.3	+	6	1064	c.533A>G	c.(532-534)cAg>cGg	p.Q178R	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	178					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)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGCTTAGCACAGGGAGTATCT	0.478																																					p.Q178R		.											.	.	.	0			c.A533G						.						179	175	176					11																	65046272		2201	4297	6498	SO:0001583	missense	23649	exon6			TAGCACAGGGAGT	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.533A>G	11.37:g.65046272A>G	ENSP00000265465:p.Gln178Arg	50	0		56	4	NM_002689	B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332200	0.81801	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.23552	1.9	5.59	5.59	0.84812	DNA polymerase alpha, subunit B N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	M	0.70275	2.135	0.80722	D	1	P;B	0.39717	0.684;0.183	B;B	0.35182	0.197;0.08	T	0.07214	-1.0784	10	0.15499	T	0.54	-23.1326	14.0087	0.64481	1.0:0.0:0.0:0.0	.	138;178	E9PIQ6;Q14181	.;DPOA2_HUMAN	R	178;138	ENSP00000265465:Q178R	ENSP00000265465:Q178R	Q	+	2	0	POLA2	64802848	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	5.716000	0.68437	2.250000	0.74265	0.455000	0.32223	CAG	.		0.478	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		G	65046272	A	G	65046272	3	3	7	1	0	0	0	0	1	0	0	0	12227	188	7	4	555	4	POLA2	11	65046272	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	3311420	65046272	69960244	82	1041											
NLRX1	79671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	119050623	119050623	+	Silent	SNP	C	C	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:119050623C>G	ENST00000409109.1	+	7	2480	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	NLRX1_ENST00000525863.1_Silent_p.L631L|NLRX1_ENST00000292199.2_Silent_p.L631L|NLRX1_ENST00000409991.1_Silent_p.L631L|NLRX1_ENST00000409265.4_Silent_p.L631L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	631	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)		GGGGGCTTCTCTCTGCCCACA	0.627																																					p.L631L		.											.	.	.	0			c.C1893G						.						49	52	51					11																	119050623		2200	4295	6495	SO:0001819	synonymous_variant	79671	exon7			GCTTCTCTCTGCC	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.1893C>G	11.37:g.119050623C>G		17	0		19	7	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	CCDS8416.1																																																																																			.		0.627	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		G	119050623	C	G	119050623	2	3	7	1	0	0	0	0	0	0	0	1	10524	900	32	5		5	NLRX1	11	119050623	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	54004351	119050623	15955893	83	1042											
SRPR	6734	hgsc.bcm.edu	37	11	126134923	126134923	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:126134923T>C	ENST00000332118.6	-	11	1610	c.1456A>G	c.(1456-1458)Atg>Gtg	p.M486V	SRPR_ENST00000532259.1_Missense_Mutation_p.M458V|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	486					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)		AACTGCACCATGGTGCGGCCA	0.557																																					p.M486V		.											SRPR,NS,carcinoma,0,1	SRPR	0	0			c.A1456G						.						65	59	61					11																	126134923		2201	4299	6500	SO:0001583	missense	6734	exon11			GCACCATGGTGCG	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.1456A>G	11.37:g.126134923T>C	ENSP00000328023:p.Met486Val	36	0		43	2	NM_003139	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139091	0.37728	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.121725	0.85682	D	0.000000	T	0.41558	0.1164	N	0.16066	0.365	0.54753	D	0.999985	B;B	0.17038	0.02;0.02	B;B	0.21360	0.034;0.034	T	0.25117	-1.0141	9	0.23891	T	0.37	-24.8843	15.3398	0.74287	0.0:0.0:0.0:1.0	.	458;486	E9PJS4;P08240	.;SRPR_HUMAN	V	486;458	.	ENSP00000328023:M486V	M	-	1	0	SRPR	125640133	0.998000	0.40836	0.985000	0.45067	0.979000	0.70002	2.846000	0.48262	2.215000	0.71742	0.528000	0.53228	ATG	.		0.557	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		C	126134923	T	C	126134923	3	2	7	1	0	0	0	0	1	0	0	0	15209	1464	51	4	476	4	SRPR	11	126134923	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	7084300	126134923	8871593	84	1043											
DCP1B	196513	hgsc.bcm.edu	37	12	2062323	2062323	+	Silent	SNP	T	T	C	rs149912567|rs71057810|rs111543431|rs373461041		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:2062323T>C	ENST00000280665.6	-	7	862	c.783A>G	c.(781-783)caA>caG	p.Q261Q	DCP1B_ENST00000540622.1_Silent_p.Q135Q|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Silent_p.Q159Q	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	261	Poly-Gln.				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)	p.Q261_E262insQ(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGCTTCTCTtgctgctgct	0.557																																					p.Q261Q		.											.,4	.	63	2	Insertion - In frame(2)	breast(1)|kidney(1)	c.A783G						.						38	43	42					12																	2062323		2203	4300	6503	SO:0001819	synonymous_variant	196513	exon7			CTTCTCTTGCTGC	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.783A>G	12.37:g.2062323T>C		15	0		35	2	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																			.		0.557	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2062323	T	C	2062323	2	2	7	1	0	0	0	0	0	0	0	1	4308	1606	56	4		4	DCP1B	12	2062323	Silent	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09		2062323	131789572	85	1044											
MRPS35	60488	hgsc.bcm.edu	37	12	27863845	27863845	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:27863845C>T	ENST00000081029.3	+	1	140	c.69C>T	c.(67-69)tcC>tcT	p.S23S	RP11-1060J15.7_ENST00000538640.1_lincRNA|RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA|MRPS35_ENST00000538315.1_Silent_p.S23S	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GTGCATTCTCCACTGCCGTCT	0.652																																					p.S23S		.											MRPS35,NS,neuroblastoma,0,1	MRPS35	0	0			c.C69T						.						63	51	55					12																	27863845		2203	4300	6503	SO:0001819	synonymous_variant	60488	exon1			ATTCTCCACTGCC	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"Mitochondrial ribosomal proteins / small subunits"	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.69C>T	12.37:g.27863845C>T		30	0		73	3	NM_001190864	B2RDZ7|Q96Q21	Silent	SNP	ENST00000081029.3	37	CCDS8714.1																																																																																			.		0.652	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		T	27863845	C	T	27863845	2	4	7	1	0	0	0	0	0	0	0	1	9882	581	21	3		3	MRPS35	12	27863845	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	25801522	27863845	105988050	86	1045											
YAF2	10138	hgsc.bcm.edu;bcgsc.ca	37	12	42555512	42555512	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:42555512G>A	ENST00000534854.2	-	3	275	c.208C>T	c.(208-210)Cct>Tct	p.P70S	YAF2_ENST00000380790.4_Missense_Mutation_p.P28S|YAF2_ENST00000327791.4_Intron|YAF2_ENST00000442791.3_Missense_Mutation_p.P94S|YAF2_ENST00000380788.3_Missense_Mutation_p.P61S	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	70					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)		TGTGTAGGAGGCACAAACTGC	0.358																																					p.P94S		.											.	.	.	0			c.C280T						.						93	93	93					12																	42555512		2203	4300	6503	SO:0001583	missense	10138	exon4			TAGGAGGCACAAA	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.208C>T	12.37:g.42555512G>A	ENSP00000439256:p.Pro70Ser	32	0		85	5	NM_001190979	A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	G	9.459	1.092525	0.20471	.	.	ENSG00000015153	ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788;ENST00000548917	.	.	.	5.73	5.73	0.89815	.	0.115168	0.64402	D	0.000012	T	0.49115	0.1538	N	0.20685	0.6	0.80722	D	1	B;B;B	0.22276	0.004;0.067;0.002	B;B;B	0.18871	0.005;0.023;0.002	T	0.41142	-0.9525	9	0.15952	T	0.53	.	19.8863	0.96913	0.0:0.0:1.0:0.0	.	28;61;70	B4DFU3;A6NL56;Q8IY57	.;.;YAF2_HUMAN	S	94;70;28;61;31	.	ENSP00000370165:P61S	P	-	1	0	YAF2	40841779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.257000	0.51500	2.688000	0.91661	0.650000	0.86243	CCT	.		0.358	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1			A	42555512	G	A	42555512	3	1	7	1	0	0	0	0	1	0	0	0	17514	1203	42	3	342	3	YAF2	12	42555512	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	14691667	42555512	91296383	87	1046											
NCKAP1L	3071	hgsc.bcm.edu	37	12	54917650	54917650	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:54917650C>A	ENST00000293373.6	+	20	2145	c.2066C>A	c.(2065-2067)aCa>aAa	p.T689K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T639K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	689					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCACTGACAATGAATCAT	0.463																																					p.T689K		.											.	.	.	0			c.C2066A						.						169	141	151					12																	54917650		2203	4300	6503	SO:0001583	missense	3071	exon20			CACTGACAATGAA	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2066C>A	12.37:g.54917650C>A	ENSP00000293373:p.Thr689Lys	26	0		64	4	NM_005337	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339628	0.60963	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30182	1.54;1.54	4.76	4.76	0.60689	.	0.442765	0.24523	N	0.037793	T	0.21347	0.0514	N	0.08118	0	0.37427	D	0.913855	P	0.34587	0.458	B	0.38056	0.264	T	0.33317	-0.9873	10	0.87932	D	0	-0.632	16.1086	0.81244	0.0:1.0:0.0:0.0	.	689	P55160	NCKPL_HUMAN	K	689;639	ENSP00000293373:T689K;ENSP00000445596:T639K	ENSP00000293373:T689K	T	+	2	0	NCKAP1L	53203917	0.908000	0.30866	1.000000	0.80357	0.754000	0.42855	4.180000	0.58296	2.565000	0.86533	0.655000	0.94253	ACA	.		0.463	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		A	54917650	C	A	54917650	3	1	7	1	0	0	0	0	1	0	0	0	10261	478	17	3	2144	3	NCKAP1L	12	54917650	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	12362138	54917650	78934245	88	1047											
LRP1	4035	hgsc.bcm.edu;ucsc.edu	37	12	57586977	57586977	+	Missense_Mutation	SNP	G	G	A	rs143045870		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:57586977G>A	ENST00000243077.3	+	46	8040	c.7574G>A	c.(7573-7575)cGa>cAa	p.R2525Q	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2525	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	TCCTCTTGCCGAGCACAAGAT	0.627																																					p.R2525Q		.											.	.	.	0			c.G7574A						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	74	59	64		7574	2.7	0.3	12	dbSNP_134	64	0,8600		0,0,4300	no	missense	LRP1	NM_002332.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	2525/4545	57586977	2,13004	2203	4300	6503	SO:0001583	missense	4035	exon46			CTTGCCGAGCACA	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.7574G>A	12.37:g.57586977G>A	ENSP00000243077:p.Arg2525Gln	13	0		24	11	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144485	0.57044	4.54E-4	0.0	ENSG00000123384	ENST00000243077	D	0.95588	-3.75	4.51	2.69	0.31865	.	0.283763	0.28072	N	0.016717	D	0.84692	0.5528	N	0.04297	-0.235	0.48975	D	0.999732	B	0.18741	0.03	B	0.17098	0.017	T	0.73439	-0.3982	10	0.12766	T	0.61	.	6.1486	0.20298	0.3862:0.0:0.6138:0.0	.	2525	Q07954	LRP1_HUMAN	Q	2525	ENSP00000243077:R2525Q	ENSP00000243077:R2525Q	R	+	2	0	LRP1	55873244	0.674000	0.27549	0.342000	0.25602	0.443000	0.32047	1.398000	0.34554	0.547000	0.28938	-0.192000	0.12808	CGA	0.000		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57586977	G	A	57586977	3	1	7	1	0	0	0	0	1	0	0	0	8986	1058	37	1	7756	1	LRP1	12	57586977	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	2669327	57586977	76264918	89	1048											
ZDHHC17	23390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	77208948	77208948	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:77208948A>G	ENST00000426126.2	+	6	1215	c.566A>G	c.(565-567)aAt>aGt	p.N189S	ZDHHC17_ENST00000359019.4_Missense_Mutation_p.N139S|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.N189S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	189					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						ATGGATCAGAATGGAATGACG	0.303																																					p.N189S		.											.	.	.	0			c.A566G						.						51	49	49					12																	77208948		1817	4062	5879	SO:0001583	missense	23390	exon6			ATCAGAATGGAAT	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.566A>G	12.37:g.77208948A>G	ENSP00000403397:p.Asn189Ser	44	0		109	18	NM_015336	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244488	0.79912	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000550876	T;T;T;T	0.64618	-0.11;-0.11;0.63;0.63	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	N	0.16862	0.45	0.80722	D	1	D	0.63880	0.993	D	0.65987	0.94	T	0.66372	-0.5940	10	0.38643	T	0.18	-16.7176	15.5869	0.76491	1.0:0.0:0.0:0.0	.	189	Q8IUH5	ZDH17_HUMAN	S	189;189;139;26	ENSP00000403397:N189S;ENSP00000334868:N189S;ENSP00000351913:N139S;ENSP00000449734:N26S	ENSP00000334868:N189S	N	+	2	0	ZDHHC17	75733079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.065000	0.93941	2.084000	0.62774	0.455000	0.32223	AAT	.		0.303	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		G	77208948	A	G	77208948	3	3	7	1	0	0	0	0	1	0	0	0	17655	101	4	4	588	4	ZDHHC17	12	77208948	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	19621971	77208948	56642947	90	1049											
HAL	3034	hgsc.bcm.edu	37	12	96379885	96379885	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:96379885G>A	ENST00000261208.3	-	13	1473	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	HAL_ENST00000541929.1_Missense_Mutation_p.R161W|HAL_ENST00000538703.1_Missense_Mutation_p.R369W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	369					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAGAGTGACCGAAACCGAAAA	0.403																																					p.R369W	NSCLC(169;943 2815 23563 30031)	.											HAL,NS,malignant_melanoma,0,2	HAL	0	0			c.C1105T						.						125	107	113					12																	96379885		2203	4300	6503	SO:0001583	missense	3034	exon13			GTGACCGAAACCG		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1105C>T	12.37:g.96379885G>A	ENSP00000261208:p.Arg369Trp	35	0		58	4	NM_001258334	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754816	0.89843	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.79749	-1.3;-1.3;-1.3	5.63	5.63	0.86233	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92479	0.5991	10	0.87932	D	0	-11.9001	14.4176	0.67160	0.0:0.0:0.8169:0.1831	.	369;369	F5GXF2;P42357	.;HUTH_HUMAN	W	369;161;369	ENSP00000261208:R369W;ENSP00000446364:R161W;ENSP00000440861:R369W	ENSP00000261208:R369W	R	-	1	2	HAL	94904016	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.856000	0.62932	2.669000	0.90835	0.655000	0.94253	CGG	.		0.403	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			A	96379885	G	A	96379885	3	1	7	1	0	0	0	0	1	0	0	0	6974	1057	37	1	904	1	HAL	12	96379885	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	19170937	96379885	37472010	91	1050											
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104126866	104126866	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:104126866C>T	ENST00000388887.2	+	51	5570	c.5366C>T	c.(5365-5367)gCc>gTc	p.A1789V		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						GCCCTCCATGCCCTACCTGCT	0.498																																					p.A1789V		.											.	.	.	0			c.C5366T						.						233	189	204					12																	104126866		2203	4300	6503	SO:0001583	missense	55576	exon51			TCCATGCCCTACC	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.5366C>T	12.37:g.104126866C>T	ENSP00000373539:p.Ala1789Val	14	0		15	8	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450822	0.43531	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.91124	-2.79	5.11	3.13	0.36017	FAS1 domain (5);	0.649555	0.15589	N	0.254492	D	0.92489	0.7615	M	0.87381	2.88	0.28529	N	0.912686	P	0.47191	0.891	P	0.49012	0.598	D	0.86750	0.1960	10	0.41790	T	0.15	.	9.2994	0.37835	0.1513:0.5546:0.2941:0.0	.	1789	Q8WWQ8	STAB2_HUMAN	V	1789;476	ENSP00000373539:A1789V	ENSP00000258495:A476V	A	+	2	0	STAB2	102650996	0.155000	0.22806	0.946000	0.38457	0.130000	0.20726	1.151000	0.31651	1.135000	0.42183	-0.176000	0.13171	GCC	.		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104126866	C	T	104126866	3	4	7	1	0	0	0	0	1	0	0	0	15285	739	26	3	5568	3	STAB2	12	104126866	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	7746981	104126866	29725029	92	1051											
POLR3B	55703	hgsc.bcm.edu	37	12	106853126	106853126	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:106853126G>T	ENST00000228347.4	+	22	2772	c.2550G>T	c.(2548-2550)caG>caT	p.Q850H	POLR3B_ENST00000539066.1_Missense_Mutation_p.Q792H	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	850					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						AGCAACCACAGTACAAAGATG	0.393																																					p.Q850H		.											.	.	.	0			c.G2550T						.						149	125	133					12																	106853126		2203	4300	6503	SO:0001583	missense	55703	exon22			ACCACAGTACAAA	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.2550G>T	12.37:g.106853126G>T	ENSP00000228347:p.Gln850His	31	0		88	4	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554469	0.45487	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.72282	-0.64;-0.64	5.59	5.59	0.84812	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.49778	1.585	0.80722	D	1	B	0.15719	0.014	B	0.24974	0.057	T	0.64347	-0.6429	10	0.54805	T	0.06	-16.6386	13.8415	0.63441	0.073:0.0:0.927:0.0	.	850	Q9NW08	RPC2_HUMAN	H	850;792	ENSP00000228347:Q850H;ENSP00000445721:Q792H	ENSP00000228347:Q850H	Q	+	3	2	POLR3B	105377256	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.724000	0.74747	2.636000	0.89361	0.655000	0.94253	CAG	.		0.393	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		T	106853126	G	T	106853126	3	4	7	1	0	0	0	0	1	0	0	0	12268	1020	36	3	2636	3	POLR3B	12	106853126	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	2726260	106853126	26998769	93	1052											
UBE3B	89910	hgsc.bcm.edu	37	12	109927743	109927743	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:109927743G>T	ENST00000342494.3	+	8	1159	c.564G>T	c.(562-564)gcG>gcT	p.A188A	UBE3B_ENST00000434735.2_Silent_p.A188A|UBE3B_ENST00000340074.5_Silent_p.A188A|UBE3B_ENST00000537063.1_Silent_p.A188A|UBE3B_ENST00000540230.1_Silent_p.A188A|UBE3B_ENST00000536398.1_Silent_p.A188A|UBE3B_ENST00000280774.5_Silent_p.A188A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	188					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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TTCGACCAGCGATGAACCACA	0.438																																					p.A188A		.											UBE3B,bladder,carcinoma,+1,1	UBE3B	+1	0			c.G564T						.						210	187	195					12																	109927743		2203	4300	6503	SO:0001819	synonymous_variant	89910	exon8			ACCAGCGATGAAC	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.564G>T	12.37:g.109927743G>T		19	0		46	2	NM_001270451	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	CCDS9129.1																																																																																			.		0.438	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		T	109927743	G	T	109927743	2	4	7	1	0	0	0	0	0	0	0	1	16929	1045	37	2		2	UBE3B	12	109927743	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	3074617	109927743	23924152	94	1053											
ORAI1	84876	broad.mit.edu	37	12	122079347	122079347	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:122079347C>T	ENST00000330079.7	+	2	903	c.710C>T	c.(709-711)gCt>gTt	p.A237V		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	235					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGCCAGGCAGCTGCCATCGCC	0.637																																					p.A237V													.	ORAI1	66	0			c.C710T						.						51	67	62					12																	122079347		2194	4287	6481	SO:0001583	missense	84876	exon2			AGGCAGCTGCCAT	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"ORAI calcium release-activated calcium modulators"	25896	protein-coding gene	gene with protein product	"calcium release-activated calcium modulator 1"	610277	"transmembrane protein 142A"	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.710C>T	12.37:g.122079347C>T	ENSP00000328216:p.Ala237Val	42	0		47	3	NM_032790	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942222	0.73672	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.57595	0.39;0.39	5.52	5.52	0.82312	.	0.100261	0.64402	D	0.000002	T	0.73606	0.3608	M	0.82323	2.585	0.80722	D	1	D	0.61080	0.989	P	0.59703	0.862	T	0.77294	-0.2641	10	0.87932	D	0	-19.5323	19.8013	0.96509	0.0:1.0:0.0:0.0	.	235	Q96D31	CRCM1_HUMAN	V	237;132	ENSP00000328216:A237V;ENSP00000441198:A132V	ENSP00000328216:A237V	A	+	2	0	ORAI1	120563730	1.000000	0.71417	0.061000	0.19648	0.060000	0.15804	7.818000	0.86416	2.761000	0.94854	0.591000	0.81541	GCT	.		0.637	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		T	122079347	C	T	122079347	3	4	7	1	0	0	0	0	1	0	0	0	11296	797	28	3	716	3	ORAI1	12	122079347	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	12151604	122079347	11772548	95	1054											
KHNYN	23351	broad.mit.edu	37	14	24900976	24900976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr14:24900976delC	ENST00000251343.5	+	3	648	c.509delC	c.(508-510)tccfs	p.S170fs	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Frame_Shift_Del_p.S170fs|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Frame_Shift_Del_p.S170fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	170							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGCTGCAGTCCCCGGGGGAT	0.637											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S170fs													.	KHNYN	46	0			c.509delC						.						54	63	60					14																	24900976		2203	4300	6503	SO:0001589	frameshift_variant	23351	exon3			TGCAGTCCCCGGG	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.509delC	14.37:g.24900976delC	ENSP00000251343:p.Ser170fs	17	0	774	6	2	NM_015299	Q86TZ6|Q8IUQ2|Q96BA9	Frame_Shift_Del	DEL	ENST00000251343.5	37	CCDS32058.1																																																																																			.		0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			-	24900976	C	-	24900976	7	5	7	1	0	1	0	1	0	0	0	0	8177	855	30	0	515	0	KHNYN	14	24900976	Frame_Shift_Del	DEL	C	TCGA-4G-AAZT-01A-11D-A417-09		24900976	82448564	96	1055											
MIA2	117153	bcgsc.ca	37	14	39703322	39703322	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr14:39703322G>A	ENST00000280082.3	+	1	203	c.4G>A	c.(4-6)Gca>Aca	p.A2T	MIA2_ENST00000556784.1_Missense_Mutation_p.A2T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.A2T	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)		TTTTAGCATGGCAAAATTTGG	0.418																																					p.A2T													.	MIA2	82	0			c.G4A						.						91	87	88					14																	39703322		2203	4300	6503	SO:0001583	missense	117153	exon1			AGCATGGCAAAAT	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.4G>A	14.37:g.39703322G>A	ENSP00000280082:p.Ala2Thr	57	0		52	4	NM_054024	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876162	0.51801	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.55413	0.79;0.77;0.52;0.55;2.91	5.5	5.5	0.81552	.	0.187652	0.26190	N	0.025802	T	0.51669	0.1688	L	0.60455	1.87	0.24923	N	0.991962	P	0.37158	0.585	B	0.40101	0.319	T	0.54384	-0.8302	10	0.51188	T	0.08	0.0236	11.6039	0.51020	0.0:0.1323:0.7311:0.1366	.	2	Q96PC5-2	.	T	2	ENSP00000451883:A2T;ENSP00000451217:A2T;ENSP00000280082:A2T;ENSP00000451934:A2T;ENSP00000452252:A2T	ENSP00000280082:A2T	A	+	1	0	MIA2;RP11-407N17.3	38773073	0.992000	0.36948	0.984000	0.44739	0.058000	0.15608	2.300000	0.43620	2.741000	0.93983	0.650000	0.86243	GCA	.		0.418	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		A	39703322	G	A	39703322	3	1	7	1	0	0	0	0	1	0	0	0	9602	1203	42	3	6	3	MIA2	14	39703322	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	14802346	39703322	67646218	97	1056											
C14orf4	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-	rs371633333		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				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						TTCCACCgcagcggcggcggcgg	0.749																																					p.162_163del													.	IRF2BPL	40	0			c.486_488del						.																																			SO:0001651	inframe_deletion	64207	exon1			ACCGCAGCGGCGG	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.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del	4	0		16	6	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	CCDS9854.1																																																																																			.		0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		-	77493650	GCG	-	77493648	7	5	7	1	0	1	0	1	0	0	0	0	1778	971	34	0	1906	0	C14orf4	14	77493648	In_Frame_Del	DEL	GCG	TCGA-4G-AAZT-01A-11D-A417-09	37790326	77493648	29855892	98	1057											
GANC	2595	hgsc.bcm.edu	37	15	42644326	42644326	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:42644326C>T	ENST00000318010.8	+	24	2974	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	912					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)	CTGGGAGGTCCGCATCATATG	0.493																																					p.R912C		.											GANC,colon,carcinoma,0,1	GANC	0	0			c.C2734T						.						121	99	106					15																	42644326		2203	4299	6502	SO:0001583	missense	2595	exon24			GAGGTCCGCATCA	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.2734C>T	15.37:g.42644326C>T	ENSP00000326227:p.Arg912Cys	19	0		19	2	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613325	0.28712	.	.	ENSG00000214013	ENST00000318010	D	0.87179	-2.22	5.62	4.71	0.59529	.	0.651463	0.17321	N	0.178507	T	0.78792	0.4339	N	0.25647	0.755	0.29835	N	0.829689	B	0.11235	0.004	B	0.11329	0.006	T	0.72786	-0.4188	10	0.49607	T	0.09	-0.9746	8.6287	0.33906	0.0:0.8199:0.0:0.1801	.	912	Q8TET4	GANC_HUMAN	C	912	ENSP00000326227:R912C	ENSP00000326227:R912C	R	+	1	0	GANC	40431618	0.004000	0.15560	0.344000	0.25628	0.496000	0.33645	0.921000	0.28718	1.523000	0.49018	0.650000	0.86243	CGC	.		0.493	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		T	42644326	C	T	42644326	3	4	7	1	0	0	0	0	1	0	0	0	6259	652	23	1	2828	1	GANC	15	42644326	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09		42644326	59887066	99	1058											
C2CD4A	145741	ucsc.edu;bcgsc.ca	37	15	62359940	62359940	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:62359940C>T	ENST00000355522.5	+	2	269	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	43						nucleus (GO:0005634)											GTGCTCACTCCGGACCGCATC	0.677																																					p.P43L													.	C2CD4A	3	0			c.C128T						.						23	25	24					15																	62359940		2202	4299	6501	SO:0001583	missense	145741	exon2			TCACTCCGGACCG	AF504646	CCDS32258.1	15q22.2	2009-09-28	2009-09-28	2009-09-28		ENSG00000198535			33627	protein-coding gene	gene with protein product	"nuclear localized factor 1"	610343	"family with sequence similarity 148, member A"	FAM148A			Standard	NM_207322		Approved	NLF1	uc002ahf.4	Q8NCU7		ENST00000355522.5:c.128C>T	15.37:g.62359940C>T	ENSP00000347712:p.Pro43Leu	28	0		42	4	NM_207322		Missense_Mutation	SNP	ENST00000355522.5	37	CCDS32258.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948947	0.92660	.	.	ENSG00000198535	ENST00000355522	T	0.75938	-0.98	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90055	0.4152	10	0.87932	D	0	.	15.6213	0.76808	0.0:1.0:0.0:0.0	.	43	Q8NCU7	C2C4A_HUMAN	L	43	ENSP00000347712:P43L	ENSP00000347712:P43L	P	+	2	0	C2CD4A	60147232	1.000000	0.71417	0.999000	0.59377	0.761000	0.43186	5.061000	0.64319	2.269000	0.75478	0.462000	0.41574	CCG	.		0.677	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322		T	62359940	C	T	62359940	3	4	7	1	0	0	0	0	1	0	0	0	2162	652	23	1	130	1	C2CD4A	15	62359940	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	19715614	62359940	40171452	100	1059											
ISLR2	57611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	74425467	74425467	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:74425467G>A	ENST00000361742.3	+	4	1141	c.372G>A	c.(370-372)gcG>gcA	p.A124A	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A124A|ISLR2_ENST00000435464.1_Silent_p.A124A|ISLR2_ENST00000453268.2_Silent_p.A124A|ISLR2_ENST00000419208.1_Silent_p.A124A|ISLR2_ENST00000565540.1_Silent_p.A124A|ISLR2_ENST00000445793.1_Silent_p.A124A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	124					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A124A(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ACCTGAGCGCGCTGCAGCTGC	0.617																																					p.A124A		.											ISLR2,NS,carcinoma,0,1	ISLR2	0	1	Substitution - coding silent(1)	endometrium(1)	c.G372A						.						69	69	69					15																	74425467		2198	4297	6495	SO:0001819	synonymous_variant	57611	exon4			GAGCGCGCTGCAG		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.372G>A	15.37:g.74425467G>A		17	0		15	4	NM_001130138	A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	CCDS10259.1																																																																																			.		0.617	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		A	74425467	G	A	74425467	2	1	7	1	0	0	0	0	0	0	0	1	7886	1074	38	1		1	ISLR2	15	74425467	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	12065527	74425467	28105925	101	1060											
IREB2	3658	hgsc.bcm.edu	37	15	78765723	78765723	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:78765723G>T	ENST00000258886.8	+	8	1172	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	IREB2_ENST00000560440.1_Missense_Mutation_p.K341N	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	341					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTATTACAAAGGTAAGTTAAA	0.373																																					p.K341N	NSCLC(200;764 2208 35157 49871 50830)	.											.	.	.	0			c.G1023T						.						169	158	162					15																	78765723		2196	4293	6489	SO:0001630	splice_region_variant	3658	exon8			TACAAAGGTAAGT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1023+1G>T	15.37:g.78765723G>T		60	0		84	3	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094122	0.56075	.	.	ENSG00000136381	ENST00000258886	T	0.18016	2.24	5.93	5.01	0.66863	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	L	0.47078	1.49	0.80722	D	1	D;P	0.58970	0.984;0.901	P;P	0.56042	0.79;0.634	T	0.00242	-1.1885	10	0.52906	T	0.07	.	14.5347	0.67953	0.0697:0.0:0.9303:0.0	.	341;341	P48200;Q8WVK6	IREB2_HUMAN;.	N	341	ENSP00000258886:K341N	ENSP00000258886:K341N	K	+	3	2	IREB2	76552778	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.522000	0.73783	2.818000	0.97014	0.591000	0.81541	AAG	.		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	Missense_Mutation	T	78765723	G	T	78765723	5	4	7	1	0	0	0	0	0	0	1	0	7853	1014	35	3	1053	3	IREB2	15	78765723	Splice_Site	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	4340256	78765723	23765669	102	1061											
ASPHD1	253982	hgsc.bcm.edu	37	16	29912808	29912808	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:29912808C>T	ENST00000308748.5	+	1	768	c.516C>T	c.(514-516)ggC>ggT	p.G172G	SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	172	Gly-rich.			G -> GG (in Ref. 2; AAI44153). {ECO:0000305}.	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						CTCAGGGTGGCCCAGGCCCTG	0.682																																					p.G172G		.											.	.	.	0			c.C516T						.						30	33	32					16																	29912808		2194	4291	6485	SO:0001819	synonymous_variant	253982	exon1			GGGTGGCCCAGGC	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.516C>T	16.37:g.29912808C>T		36	0		117	7	NM_181718	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	ENST00000308748.5	37	CCDS10660.1																																																																																			.		0.682	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		T	29912808	C	T	29912808	2	4	7	1	0	0	0	0	0	0	0	1	1055	726	26	3		3	ASPHD1	16	29912808	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09		29912808	60441945	103	1062											
BBS2	583	hgsc.bcm.edu	37	16	56535283	56535283	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:56535283G>A	ENST00000245157.5	-	10	1627	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	BBS2_ENST00000568104.1_Missense_Mutation_p.R403C|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	403					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)	p.R403C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GTGGAAATGCGTAATTCTGTA	0.478									Bardet-Biedl syndrome																												p.R403C		.											BBS2,NS,carcinoma,+1,1	BBS2	+1	1	Substitution - Missense(1)	lung(1)	c.C1207T						.						245	227	234					16																	56535283		2198	4300	6498	SO:0001583	missense	583	exon10	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AAATGCGTAATTC	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.1207C>T	16.37:g.56535283G>A	ENSP00000245157:p.Arg403Cys	30	0		73	3	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	G	3.981	-0.006506	0.07773	.	.	ENSG00000125124	ENST00000245157	D	0.90955	-2.76	5.02	-3.78	0.04333	.	0.433900	0.27759	N	0.017969	T	0.73791	0.3632	N	0.12471	0.22	0.27560	N	0.950221	B	0.02656	0.0	B	0.01281	0.0	T	0.60078	-0.7333	10	0.37606	T	0.19	0.1208	2.7427	0.05258	0.3672:0.2028:0.3304:0.0995	.	403	Q9BXC9	BBS2_HUMAN	C	403	ENSP00000245157:R403C	ENSP00000245157:R403C	R	-	1	0	BBS2	55092784	0.952000	0.32445	0.179000	0.23059	0.022000	0.10575	0.569000	0.23638	-0.671000	0.05274	-0.295000	0.09555	CGC	.		0.478	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		A	56535283	G	A	56535283	3	1	7	1	0	0	0	0	1	0	0	0	1339	1145	40	1	990	1	BBS2	16	56535283	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	26622475	56535283	33819470	104	1063											
FAM65A	79567	hgsc.bcm.edu	37	16	67572725	67572725	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:67572725G>T	ENST00000379312.3	+	3	388	c.267G>T	c.(265-267)ctG>ctT	p.L89L	FAM65A_ENST00000428437.2_Silent_p.L99L|FAM65A_ENST00000422602.2_Silent_p.L105L|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Silent_p.L85L|FAM65A_ENST00000540839.3_Silent_p.L105L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	89						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCGGGGCCTGACGTGAGCAG	0.672																																					p.L105L		.											.	.	.	0			c.G315T						.						34	41	39					16																	67572725		2179	4280	6459	SO:0001819	synonymous_variant	79567	exon3			GGGCCTGACGTGA	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.267G>T	16.37:g.67572725G>T		57	0		97	4	NM_001193523	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858425	0.17178	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.43	0.681	0.17986	.	.	.	.	.	T	0.52370	0.1730	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40979	-0.9534	4	.	.	.	-8.3402	6.4709	0.22007	0.3271:0.1352:0.5377:0.0	.	.	.	.	Y	80	.	.	D	+	1	0	FAM65A	66130226	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	0.645000	0.24782	0.265000	0.21872	0.484000	0.47621	GAC	.		0.672	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		T	67572725	G	T	67572725	2	4	7	1	0	0	0	0	0	0	0	1	5621	1277	45	3		3	FAM65A	16	67572725	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	11037442	67572725	22782028	105	1064											
ZFP1	162239	hgsc.bcm.edu	37	16	75203971	75203971	+	Missense_Mutation	SNP	G	G	T	rs375737032		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:75203971G>T	ENST00000393430.2	+	4	1087	c.963G>T	c.(961-963)gaG>gaT	p.E321D	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.E288D|ZFP1_ENST00000570010.1_Missense_Mutation_p.E321D|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						ACACGGGGGAGAAACGCTATG	0.408																																					p.E321D	NSCLC(187;1429 2122 10143 20357 42217)	.											ZFP1,NS,carcinoma,0,1	ZFP1	0	0			c.G963T						.						77	76	76					16																	75203971		2198	4300	6498	SO:0001583	missense	162239	exon4			GGGGGAGAAACGC	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"Zinc fingers, C2H2-type", "-"	23328	protein-coding gene	gene with protein product			"zinc finger protein 1 homolog (mouse)", "zinc finger protein 1"			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.963G>T	16.37:g.75203971G>T	ENSP00000377080:p.Glu321Asp	41	0		84	4	NM_153688	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885738	0.72410	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.26810	1.71	4.42	4.42	0.53409	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000163	T	0.35653	0.0939	L	0.39085	1.19	0.80722	D	1	D	0.65815	0.995	D	0.69654	0.965	T	0.04565	-1.0942	10	0.72032	D	0.01	-30.2945	8.5435	0.33406	0.101:0.0:0.899:0.0	.	321	Q6P2D0	ZFP1_HUMAN	D	321	ENSP00000377080:E321D	ENSP00000333192:E321D	E	+	3	2	ZFP1	73761472	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.161000	0.31773	2.744000	0.94065	0.655000	0.94253	GAG	.		0.408	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		T	75203971	G	T	75203971	3	4	7	1	0	0	0	0	1	0	0	0	17684	933	33	3	973	3	ZFP1	16	75203971	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	7631246	75203971	15150782	106	1065											
DVL2	1856	broad.mit.edu	37	17	7129307	7129307	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:7129307C>T	ENST00000005340.5	-	15	2370	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	DVL2_ENST00000575458.1_Silent_p.V690V|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	696					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						CCGGAGGCTGCACTGCTGGAG	0.662																																					p.V696V													.	DVL2	49	0			c.G2088A						.						33	40	38					17																	7129307		2202	4299	6501	SO:0001819	synonymous_variant	1856	exon15			AGGCTGCACTGCT	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.2088G>A	17.37:g.7129307C>T		26	0		32	3	NM_004422	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																			.		0.662	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		T	7129307	C	T	7129307	2	4	7	1	0	0	0	0	0	0	0	1	4850	697	25	3		3	DVL2	17	7129307	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09		7129307	74065903	107	1066											
UNC45B	146862	hgsc.bcm.edu	37	17	33504088	33504088	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:33504088C>T	ENST00000268876.5	+	16	2181	c.2084C>T	c.(2083-2085)gCc>gTc	p.A695V	UNC45B_ENST00000591048.1_Missense_Mutation_p.A614V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A693V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A614V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A693V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	695					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)				GTGAAGGCAGCCCACGCTCTA	0.572																																					p.A695V		.											UNC45B,NS,carcinoma,0,1	UNC45B	0	0			c.C2084T						.						148	115	126					17																	33504088		2203	4300	6503	SO:0001583	missense	146862	exon16			AGGCAGCCCACGC	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.2084C>T	17.37:g.33504088C>T	ENSP00000268876:p.Ala695Val	28	0		47	2	NM_173167	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025768	0.75390	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49720	1.28;0.77;2.91;0.77	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.262180	0.44483	D	0.000459	T	0.64527	0.2606	M	0.86268	2.805	0.31527	N	0.661688	B;P;P	0.49307	0.403;0.765;0.922	B;P;P	0.50136	0.128;0.56;0.632	T	0.74124	-0.3766	10	0.87932	D	0	-26.9056	18.0106	0.89222	0.0:1.0:0.0:0.0	.	614;693;695	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	695;695;693;614	ENSP00000378071:A695V;ENSP00000268876:A695V;ENSP00000412840:A693V;ENSP00000367710:A614V	ENSP00000268876:A695V	A	+	2	0	UNC45B	30528201	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.145000	0.58065	2.814000	0.96858	0.563000	0.77884	GCC	.		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33504088	C	T	33504088	3	4	7	1	0	0	0	0	1	0	0	0	17038	739	26	3	2142	3	UNC45B	17	33504088	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	26374781	33504088	47691122	108	1067											
FMNL1	752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	43322776	43322776	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:43322776C>T	ENST00000331495.3	+	22	3221	c.2885C>T	c.(2884-2886)aCg>aTg	p.T962M	MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.T540M|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.T962M	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	962	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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						GACAGCAAGACGGCTCAGGTG	0.622																																					p.T962M	GBM(164;1247 1997 8702 11086 51972)	.											.	.	.	0			c.C2885T						.						53	53	53					17																	43322776		2203	4300	6503	SO:0001583	missense	752	exon22			GCAAGACGGCTCA	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.2885C>T	17.37:g.43322776C>T	ENSP00000329219:p.Thr962Met	26	0		37	9	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225980	0.58668	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.18016	2.24;2.24	4.18	4.18	0.49190	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	M	0.89095	3.005	0.80722	D	1	D	0.61080	0.989	P	0.58130	0.833	T	0.53215	-0.8470	10	0.51188	T	0.08	.	15.5655	0.76287	0.0:1.0:0.0:0.0	.	962	O95466	FMNL_HUMAN	M	962;962;617	ENSP00000327442:T962M;ENSP00000329219:T962M	ENSP00000327442:T962M	T	+	2	0	FMNL1	40678559	0.973000	0.33851	0.946000	0.38457	0.450000	0.32258	2.419000	0.44671	2.330000	0.79161	0.289000	0.19496	ACG	.		0.622	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		T	43322776	C	T	43322776	3	4	7	1	0	0	0	0	1	0	0	0	5973	536	19	1	2971	1	FMNL1	17	43322776	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	9818688	43322776	37872434	109	1068											
SCN4A	6329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	62020345	62020345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:62020345G>A	ENST00000435607.1	-	23	4205	c.4129C>T	c.(4129-4131)Cag>Tag	p.Q1377*	SCN4A_ENST00000578147.1_Nonsense_Mutation_p.Q1377*	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1377					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)	AGCTGGCTCTGGTTGTCTGTC	0.527																																					p.Q1377X		.											.	.	.	0			c.C4129T						.						224	208	213					17																	62020345		2203	4300	6503	SO:0001587	stop_gained	6329	exon23			GGCTCTGGTTGTC	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.4129C>T	17.37:g.62020345G>A	ENSP00000396320:p.Gln1377*	17	0		27	5	NM_000334	Q15478|Q16447|Q7Z6B1	Nonsense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	42	9.586902	0.99213	.	.	ENSG00000007314	ENST00000435607	.	.	.	3.87	3.87	0.44632	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3689	0.74548	0.0:0.0:1.0:0.0	.	.	.	.	X	1377	.	ENSP00000396320:Q1377X	Q	-	1	0	SCN4A	59374077	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.601000	0.98297	2.165000	0.68154	0.462000	0.41574	CAG	.		0.527	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62020345	G	A	62020345	4	1	7	1	0	0	0	0	0	1	0	0	13965	1357	47	3	1389	3	SCN4A	17	62020345	Nonsense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	18697569	62020345	19174865	110	1069											
C17orf28	283987	hgsc.bcm.edu;bcgsc.ca	37	17	72950350	72950350	+	Missense_Mutation	SNP	G	G	A	rs546418720		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:72950350G>A	ENST00000425042.2	-	14	1824	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	583					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											TCAGGTGTCCGCCGGCGCCGC	0.697													G|||	1	0.000199681	0	0	5008	,	,		15013	0		0	False		,,,				2504	0.001				p.R583W		.											.	.	.	0			c.C1747T						.						32	31	31					17																	72950350		2198	4291	6489	SO:0001583	missense	283987	exon14			GTGTCCGCCGGCG		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1747C>T	17.37:g.72950350G>A	ENSP00000413520:p.Arg583Trp	36	0		57	4	NM_030630	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276694	0.40294	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.47	0.947	0.19555	.	0.124595	0.51477	D	0.000100	T	0.44052	0.1275	L	0.44542	1.39	0.28388	N	0.919207	D	0.60575	0.988	P	0.51453	0.67	T	0.49744	-0.8907	9	0.87932	D	0	-17.8174	13.8492	0.63485	0.0:0.0:0.3088:0.6912	.	583	Q8IV36	CQ028_HUMAN	W	355;583;355	.	ENSP00000317795:R355W	R	-	1	2	C17orf28	70461945	0.396000	0.25262	0.038000	0.18304	0.129000	0.20672	2.444000	0.44890	0.265000	0.21872	-0.314000	0.08810	CGG	.		0.697	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		A	72950350	G	A	72950350	3	1	7	1	0	0	0	0	1	0	0	0	1859	1086	38	1	643	1	C17orf28	17	72950350	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	10930005	72950350	8244860	111	1070											
KATNAL2	83473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	44579415	44579415	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr18:44579415C>T	ENST00000245121.5	+	2	265	c.71C>T	c.(70-72)aCa>aTa	p.T24I	KATNAL2_ENST00000356157.7_Missense_Mutation_p.T96I|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCATCAGACACAGGTACATGC	0.348																																					p.T24I		.											.	.	.	0			c.C71T						.						109	116	114					18																	44579415		2203	4300	6503	SO:0001583	missense	83473	exon2			CAGACACAGGTAC	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.71C>T	18.37:g.44579415C>T	ENSP00000245121:p.Thr24Ile	45	0		60	23	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727862	0.30593	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93811	-3.29;-3.25	5.57	3.75	0.43078	.	0.811760	0.11616	N	0.546241	D	0.87985	0.6316	N	0.19112	0.55	0.26918	N	0.96674	.	.	.	.	.	.	T	0.80334	-0.1426	8	0.36615	T	0.2	-0.2942	8.4719	0.32991	0.275:0.6546:0.0:0.0704	.	.	.	.	I	96;24	ENSP00000348478:T96I;ENSP00000245121:T24I	ENSP00000245121:T24I	T	+	2	0	KATNAL2	42833413	0.537000	0.26386	0.991000	0.47740	0.924000	0.55760	1.077000	0.30741	1.467000	0.48044	0.655000	0.94253	ACA	.		0.348	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		T	44579415	C	T	44579415	3	4	7	1	0	0	0	0	1	0	0	0	8013	478	17	3	73	3	KATNAL2	18	44579415	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09		44579415	33497833	112	1071											
CCDC102B	79839	hgsc.bcm.edu	37	18	66721302	66721302	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr18:66721302G>T	ENST00000360242.5	+	8	1587	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q490H	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	490										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)				GTAAGCTCCAGAGGTCTCTGG	0.373																																					p.Q490H		.											CCDC102B,NS,malignant_melanoma,0,2	CCDC102B	0	0			c.G1470T						.						83	80	81					18																	66721302		2203	4300	6503	SO:0001583	missense	79839	exon10			GCTCCAGAGGTCT	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.1470G>T	18.37:g.66721302G>T	ENSP00000353377:p.Gln490His	36	0		41	2	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211809	0.39102	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.18502	2.21;2.21	5.05	4.17	0.49024	.	0.231054	0.22173	U	0.063609	T	0.37461	0.1004	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.12837	-1.0532	10	0.87932	D	0	-10.5179	9.3118	0.37910	0.0999:0.0:0.9001:0.0	.	490	Q68D86	C102B_HUMAN	H	490	ENSP00000316237:Q490H;ENSP00000353377:Q490H	ENSP00000316237:Q490H	Q	+	3	2	CCDC102B	64872282	1.000000	0.71417	0.976000	0.42696	0.183000	0.23260	1.620000	0.36976	1.145000	0.42336	0.454000	0.30748	CAG	.		0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		T	66721302	G	T	66721302	3	4	7	1	0	0	0	0	1	0	0	0	2744	933	33	3	1496	3	CCDC102B	18	66721302	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	22141887	66721302	11355946	113	1072											
ELANE	1991	hgsc.bcm.edu	37	19	853306	853306	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:853306C>T	ENST00000590230.1	+	4	410	c.269C>T	c.(268-270)tCg>tTg	p.S90L	ELANE_ENST00000263621.1_Missense_Mutation_p.S90L			P08246	ELNE_HUMAN	elastase, neutrophil expressed	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATAACCTCTCGCGGCGGGAG	0.692																																					p.S90L		.											.	.	.	0			c.C269T						.						16	17	17					19																	853306		2187	4276	6463	SO:0001583	missense	1991	exon3			ACCTCTCGCGGCG		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.269C>T	19.37:g.853306C>T	ENSP00000466090:p.Ser90Leu	6	0		9	5	NM_001972	P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	C	2.905	-0.226576	0.06022	.	.	ENSG00000197561	ENST00000263621	D	0.89123	-2.47	3.38	-0.314	0.12750	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.353210	0.03753	U	0.256843	D	0.82604	0.5073	L	0.39085	1.19	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.64537	-0.6384	10	0.30854	T	0.27	.	5.4948	0.16797	0.1186:0.4:0.4814:0.0	.	90	P08246	ELNE_HUMAN	L	90	ENSP00000263621:S90L	ENSP00000263621:S90L	S	+	2	0	ELANE	804306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.162000	0.10012	0.063000	0.16370	-1.245000	0.01525	TCG	.		0.692	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		T	853306	C	T	853306	3	4	7	1	0	0	0	0	1	0	0	0	5064	893	31	1	279	1	ELANE	19	853306	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09		853306	58275677	114	1073											
SF3A2	8175	hgsc.bcm.edu	37	19	2248134	2248134	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:2248134G>A	ENST00000221494.5	+	9	1402	c.984G>A	c.(982-984)ggG>ggA	p.G328G	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	328	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)		CAACCTCTGGGGTCCACCCCC	0.726																																					p.G328G		.											.	.	.	0			c.G984A						.						3	3	3					19																	2248134		1742	3564	5306	SO:0001819	synonymous_variant	8175	exon9			CTCTGGGGTCCAC	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.984G>A	19.37:g.2248134G>A		12	0		23	4	NM_007165	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																			.		0.726	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			A	2248134	G	A	2248134	2	1	7	1	0	0	0	0	0	0	0	1	14192	1219	43	3		3	SF3A2	19	2248134	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	1394828	2248134	56880849	115	1074	5	3									
SF3A2	8175	hgsc.bcm.edu	37	19	2248143	2248143	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:2248143C>T	ENST00000221494.5	+	9	1411	c.993C>T	c.(991-993)ccC>ccT	p.P331P	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	331	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)		GGGTCCACCCCCCAGCTCCTG	0.731																																					p.P331P		.											.	.	.	0			c.C993T						.						2	3	3					19																	2248143		1718	3530	5248	SO:0001819	synonymous_variant	8175	exon9			CCACCCCCCAGCT	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.993C>T	19.37:g.2248143C>T		12	0		25	7	NM_007165	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																			.		0.731	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			T	2248143	C	T	2248143	2	4	7	1	0	0	0	0	0	0	0	1	14192	610	22	3		3	SF3A2	19	2248143	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	9	2248143	56880840	116	1075	5	3									
SF3A2	8175	hgsc.bcm.edu	37	19	2248149	2248149	+	Silent	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:2248149T>C	ENST00000221494.5	+	9	1417	c.999T>C	c.(997-999)gcT>gcC	p.A333A	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	333	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)		ACCCCCCAGCTCCTGGAGTCC	0.731																																					p.A333A		.											SF3A2,colon,carcinoma,0,1	SF3A2	0	0			c.T999C						.																																			SO:0001819	synonymous_variant	8175	exon9			CCCAGCTCCTGGA	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.999T>C	19.37:g.2248149T>C		13	1		24	7	NM_007165	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																			.		0.731	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			C	2248149	T	C	2248149	2	2	7	1	0	0	0	0	0	0	0	1	14192	1538	54	4		4	SF3A2	19	2248149	Silent	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	6	2248149	56880834	117	1076	5	3									
GNA15	2769	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	3157762	3157762	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:3157762A>G	ENST00000262958.3	+	6	1039	c.781A>G	c.(781-783)Atc>Gtc	p.I261V	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	261					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	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)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTTTGGGACTATCCTGGAACT	0.532																																					p.I261V		.											.	.	.	0			c.A781G						.						260	217	231					19																	3157762		2203	4300	6503	SO:0001583	missense	2769	exon6			GGGACTATCCTGG		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.781A>G	19.37:g.3157762A>G	ENSP00000262958:p.Ile261Val	64	0		113	7	NM_002068	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377568	0.24944	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.62	3.6	0.41247	.	0.071575	0.53938	D	0.000048	D	0.84092	0.5396	L	0.39085	1.19	0.35765	D	0.820458	B	0.19583	0.037	B	0.32090	0.14	T	0.81818	-0.0758	10	0.66056	D	0.02	.	8.4183	0.32685	0.9046:0.0:0.0954:0.0	.	261	P30679	GNA15_HUMAN	V	261	ENSP00000262958:I261V	ENSP00000262958:I261V	I	+	1	0	GNA15	3108762	1.000000	0.71417	0.755000	0.31263	0.244000	0.25665	5.923000	0.70045	0.648000	0.30732	0.445000	0.29226	ATC	.		0.532	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		G	3157762	A	G	3157762	3	3	7	1	0	0	0	0	1	0	0	0	6529	449	16	4	803	4	GNA15	19	3157762	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	909613	3157762	55971221	118	1077											
TICAM1	148022	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	4816516	4816516	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:4816516G>A	ENST00000248244.5	-	2	2103	c.1874C>T	c.(1873-1875)cCg>cTg	p.P625L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	625	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGGGCACCCCGGCCAAGTGGG	0.711																																					p.P625L		.											.	.	.	0			c.C1874T						.						13	14	14					19																	4816516		2194	4288	6482	SO:0001583	missense	148022	exon2			CACCCCGGCCAAG	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1874C>T	19.37:g.4816516G>A	ENSP00000248244:p.Pro625Leu	23	0		48	24	NM_182919	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	5.991	0.366683	0.11352	.	.	ENSG00000127666	ENST00000248244	T	0.44482	0.92	4.37	-3.71	0.04424	.	1.277130	0.06096	N	0.664505	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.11817	-1.0572	10	0.39692	T	0.17	-3.8037	2.3936	0.04384	0.2513:0.2179:0.4196:0.1113	.	625	Q8IUC6	TCAM1_HUMAN	L	625	ENSP00000248244:P625L	ENSP00000248244:P625L	P	-	2	0	TICAM1	4767516	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.538000	0.06120	-0.844000	0.04184	-2.281000	0.00270	CCG	.		0.711	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		A	4816516	G	A	4816516	3	1	7	1	0	0	0	0	1	0	0	0	15939	1116	39	1	268	1	TICAM1	19	4816516	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	1658754	4816516	54312467	119	1078											
WIZ	58525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	15536231	15536231	+	Missense_Mutation	SNP	A	A	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:15536231A>C	ENST00000389282.4	-	7	4214	c.4001T>G	c.(4000-4002)cTc>cGc	p.L1334R	WIZ_ENST00000263381.7_Missense_Mutation_p.L477R|WIZ_ENST00000599910.2_Missense_Mutation_p.L651R|WIZ_ENST00000599686.3_Missense_Mutation_p.L518R|WIZ_ENST00000545156.1_Missense_Mutation_p.L648R			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1334					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGTCAGGCTGAGCTCACGAGG	0.721																																					p.L477R		.											.	.	.	0			c.T1430G						.						6	7	7					19																	15536231		1886	4042	5928	SO:0001583	missense	58525	exon5			AGGCTGAGCTCAC	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4001T>G	19.37:g.15536231A>C	ENSP00000373933:p.Leu1334Arg	13	0		41	16	NM_021241	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	A	18.16	3.561180	0.65538	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.02974	4.09	5.15	5.15	0.70609	.	0.560068	0.17605	N	0.168265	T	0.05044	0.0135	L	0.29908	0.895	0.32958	D	0.520652	D;D;D	0.56035	0.974;0.973;0.974	P;P;P	0.53809	0.497;0.735;0.467	T	0.22836	-1.0205	10	0.72032	D	0.01	-25.681	7.6649	0.28426	0.9055:0.0:0.0945:0.0	.	1334;477;518	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	R	1334;477;518;648	ENSP00000373933:L1334R	ENSP00000263381:L477R	L	-	2	0	WIZ	15397231	0.969000	0.33509	1.000000	0.80357	0.942000	0.58702	2.770000	0.47662	1.955000	0.56771	0.528000	0.53228	CTC	.		0.721	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		C	15536231	A	C	15536231	3	2	7	1	0	0	0	0	1	0	0	0	17424	304	11	4	970	4	WIZ	19	15536231	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	10719715	15536231	43592752	120	1079											
ISYNA1	51477	hgsc.bcm.edu	37	19	18548727	18548727	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:18548727G>A	ENST00000338128.8	-	2	280	c.63C>T	c.(61-63)atC>atT	p.I21I	ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000545187.1_5'UTR|ISYNA1_ENST00000457269.4_Silent_p.I21I|ISYNA1_ENST00000578963.1_5'Flank	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	21					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						ATTGCGCCTCGATGGCCTCGG	0.721																																					p.I21I		.											.	.	.	0			c.C63T						.						20	23	22					19																	18548727		2197	4297	6494	SO:0001819	synonymous_variant	51477	exon2			CGCCTCGATGGCC		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.63C>T	19.37:g.18548727G>A		13	0		27	4	NM_001170938	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																			.		0.721	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		A	18548727	G	A	18548727	2	1	7	1	0	0	0	0	0	0	0	1	7894	1048	37	1		1	ISYNA1	19	18548727	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	3012496	18548727	40580256	121	1080											
ZNF99	7652	hgsc.bcm.edu;bcgsc.ca	37	19	22952120	22952120	+	Silent	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:22952120A>G	ENST00000596209.1	-	2	100	c.10T>C	c.(10-12)Ttg>Ctg	p.L4L	ZNF99_ENST00000397104.3_Silent_p.L25L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	4	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)				CAAAATGTCAACGATCCCTGA	0.383																																					p.L4L		.											.	.	.	0			c.T10C						.						67	73	71					19																	22952120		2193	4299	6492	SO:0001819	synonymous_variant	7652	exon2			ATGTCAACGATCC	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.10T>C	19.37:g.22952120A>G		52	0		91	4	NM_001080409	M0R335	Silent	SNP	ENST00000596209.1	37	CCDS59369.1																																																																																			.		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		G	22952120	A	G	22952120	2	3	7	1	0	0	0	0	0	0	0	1	18252	40	2	4		4	ZNF99	19	22952120	Silent	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09	4403393	22952120	36176863	122	1081											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	39006851	39006851	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:39006851C>T	ENST00000359596.3	+	65	9679	c.9679C>T	c.(9679-9681)Cgg>Tgg	p.R3227W	RYR1_ENST00000360985.3_Missense_Mutation_p.R3227W|RYR1_ENST00000355481.4_Missense_Mutation_p.R3227W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3227					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)	TCCGCGGGAGCGGGCCAGTAA	0.657																																					p.R3227W		.											.	.	.	0			c.C9679T						.						13	10	11					19																	39006851		2190	4282	6472	SO:0001583	missense	6261	exon65			CGGGAGCGGGCCA	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.9679C>T	19.37:g.39006851C>T	ENSP00000352608:p.Arg3227Trp	56	0		89	42	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835382	0.32421	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.88354	-2.37;-2.37;-2.37	4.8	3.74	0.42951	.	0.000000	0.64402	U	0.000004	D	0.94085	0.8104	M	0.82630	2.6	0.44754	D	0.99775	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.993	D	0.94363	0.7589	10	0.66056	D	0.02	.	12.8361	0.57773	0.2946:0.7054:0.0:0.0	.	3227;3227;3227	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	W	3227;3227;3227;147	ENSP00000352608:R3227W;ENSP00000347667:R3227W;ENSP00000354254:R3227W	ENSP00000347667:R3227W	R	+	1	2	RYR1	43698691	0.981000	0.34729	1.000000	0.80357	0.913000	0.54294	0.220000	0.17660	1.188000	0.43014	0.655000	0.94253	CGG	.		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39006851	C	T	39006851	3	4	7	1	0	0	0	0	1	0	0	0	13813	759	27	1	9937	1	RYR1	19	39006851	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	16054731	39006851	20122132	123	1082											
CAPN12	147968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	39229091	39229091	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:39229091C>T	ENST00000328867.4	-	7	1165	c.857G>A	c.(856-858)gGc>gAc	p.G286D	CAPN12_ENST00000601953.1_Missense_Mutation_p.G137D|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	286	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				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)			CTCCACGCAGCCCCATGGGTT	0.692																																					p.G286D		.											.	.	.	0			c.G857A						.						34	35	34					19																	39229091		2199	4299	6498	SO:0001583	missense	147968	exon7			ACGCAGCCCCATG	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.857G>A	19.37:g.39229091C>T	ENSP00000331636:p.Gly286Asp	62	0		74	8	NM_144691		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638977	0.87760	.	.	ENSG00000182472	ENST00000328867	D	0.94330	-3.4	4.8	4.8	0.61643	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	H	0.95950	3.745	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	D	0.98886	1.0771	10	0.87932	D	0	.	15.6793	0.77354	0.0:1.0:0.0:0.0	.	286	Q6ZSI9	CAN12_HUMAN	D	286	ENSP00000331636:G286D	ENSP00000331636:G286D	G	-	2	0	CAPN12	43920931	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.388000	0.79795	2.375000	0.81037	0.462000	0.41574	GGC	.		0.692	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			T	39229091	C	T	39229091	3	4	7	1	0	0	0	0	1	0	0	0	2632	739	26	3	1362	3	CAPN12	19	39229091	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	222240	39229091	19899892	124	1083											
TTC9B	148014	hgsc.bcm.edu	37	19	40722126	40722126	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:40722126T>C	ENST00000311308.6	-	3	681	c.664A>G	c.(664-666)Agc>Ggc	p.S222G		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	222					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CGCTGGAGGCTGCAACGATTC	0.617																																					p.S222G		.											TTC9B,NS,carcinoma,0,1	TTC9B	0	0			c.A664G						.						130	101	110					19																	40722126		2203	4300	6503	SO:0001583	missense	148014	exon3			GGAGGCTGCAACG	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"Tetratricopeptide (TTC) repeat domain containing"	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.664A>G	19.37:g.40722126T>C	ENSP00000311760:p.Ser222Gly	27	0		37	2	NM_152479	A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	t	15.02	2.709913	0.48517	.	.	ENSG00000174521	ENST00000311308	T	0.34667	1.35	4.23	2.08	0.27032	.	0.357073	0.28176	N	0.016319	T	0.19725	0.0474	N	0.21448	0.665	0.34822	D	0.738839	B	0.02656	0.0	B	0.04013	0.001	T	0.13683	-1.0500	10	0.26408	T	0.33	-0.9123	5.3762	0.16166	0.0:0.0982:0.1768:0.725	.	222	Q8N6N2	TTC9B_HUMAN	G	222	ENSP00000311760:S222G	ENSP00000311760:S222G	S	-	1	0	TTC9B	45413966	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	1.623000	0.37008	0.073000	0.16731	0.454000	0.30748	AGC	.		0.617	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		C	40722126	T	C	40722126	3	2	7	1	0	0	0	0	1	0	0	0	16765	1580	55	4	59	4	TTC9B	19	40722126	Missense_Mutation	SNP	T	TCGA-4G-AAZT-01A-11D-A417-09	1493035	40722126	18406857	125	1084											
SHKBP1	92799	hgsc.bcm.edu	37	19	41086736	41086736	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:41086736G>T	ENST00000291842.5	+	9	787	c.738G>T	c.(736-738)cgG>cgT	p.R246R	SHKBP1_ENST00000600733.1_Silent_p.R246R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	246					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)			TCACAGCCCGGGTGCATGGTG	0.647																																					p.R246R		.											.	.	.	0			c.G738T						.						77	82	80					19																	41086736		2203	4300	6503	SO:0001819	synonymous_variant	92799	exon9			AGCCCGGGTGCAT	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.738G>T	19.37:g.41086736G>T		42	0		65	4	NM_138392	Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	CCDS12560.1																																																																																			.		0.647	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		T	41086736	G	T	41086736	2	4	7	1	0	0	0	0	0	0	0	1	14329	1219	43	3		3	SHKBP1	19	41086736	Silent	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09	364610	41086736	18042247	126	1085											
CPT1C	126129	hgsc.bcm.edu	37	19	50214055	50214055	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:50214055C>T	ENST00000392518.4	+	16	2179	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	CPT1C_ENST00000323446.5_Missense_Mutation_p.R603W|CPT1C_ENST00000354199.5_Missense_Mutation_p.R603W|CPT1C_ENST00000598293.1_Missense_Mutation_p.R603W|CPT1C_ENST00000405931.2_Missense_Mutation_p.R592W	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	603					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R603W(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGAGACGGTGCGGTCTTGCAC	0.577																																					p.R603W		.											CPT1C,caecum,carcinoma,-1,1	CPT1C	-1	1	Substitution - Missense(1)	lung(1)	c.C1807T						.						54	50	52					19																	50214055		2203	4300	6503	SO:0001583	missense	126129	exon16			ACGGTGCGGTCTT	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1807C>T	19.37:g.50214055C>T	ENSP00000376303:p.Arg603Trp	25	0		33	2	NM_001199752	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027391	0.75390	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	3.96	-0.173	0.13322	.	0.000000	0.33610	N	0.004724	D	0.98495	0.9498	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98487	1.0608	10	0.87932	D	0	-22.1682	11.9852	0.53142	0.5454:0.4546:0.0:0.0	.	592;603	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	W	603;603;592;603	ENSP00000376303:R603W;ENSP00000346138:R603W;ENSP00000384465:R592W;ENSP00000319343:R603W	ENSP00000319343:R603W	R	+	1	2	CPT1C	54905867	1.000000	0.71417	0.802000	0.32245	0.884000	0.51177	1.327000	0.33746	-0.036000	0.13669	0.299000	0.19835	CGG	.		0.577	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		T	50214055	C	T	50214055	3	4	7	1	0	0	0	0	1	0	0	0	3840	759	27	1	1861	1	CPT1C	19	50214055	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	9127319	50214055	8914928	127	1086											
PLCB1	23236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	8703060	8703060	+	Missense_Mutation	SNP	A	A	C	rs138851178	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:8703060A>C	ENST00000338037.6	+	15	1600	c.1573A>C	c.(1573-1575)Atg>Ctg	p.M525L	PLCB1_ENST00000378641.3_Missense_Mutation_p.M525L|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.M525L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	525					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						AAAATCTTCAATGGATGAGGT	0.448																																					p.E525Q		.											.	.	.	0			c.G1573C						.						201	160	174					20																	8703060		2203	4300	6503	SO:0001583	missense	23236	exon15			TCTTCAATGGATG	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.1573A>C	20.37:g.8703060A>C	ENSP00000338185:p.Met525Leu	62	0		104	42	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	16.29	3.082449	0.55861	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.49432	0.78;0.78;0.78	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.157283	0.37906	U	0.001882	T	0.42245	0.1194	L	0.44542	1.39	0.52501	D	0.999952	B;B	0.13145	0.0;0.007	B;B	0.16289	0.001;0.015	T	0.19516	-1.0303	10	0.28530	T	0.3	.	15.6296	0.76893	1.0:0.0:0.0:0.0	.	525;525	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	L	525;525;525;445;445	ENSP00000367908:M525L;ENSP00000338185:M525L;ENSP00000367904:M525L	ENSP00000338185:M525L	M	+	1	0	PLCB1	8651060	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.524000	0.81866	2.285000	0.76669	0.533000	0.62120	ATG	.		0.448	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			C	8703060	A	C	8703060	3	2	7	1	0	0	0	0	1	0	0	0	12066	101	4	4	1631	4	PLCB1	20	8703060	Missense_Mutation	SNP	A	TCGA-4G-AAZT-01A-11D-A417-09		8703060	54322460	128	1087											
C20orf79	140856	hgsc.bcm.edu	37	20	18794574	18794574	+	Silent	SNP	C	C	T	rs142475609		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:18794574C>T	ENST00000377428.2	+	1	205	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	39								p.L39L(1)									TCCTCTAGAGCTGTCAGAATT	0.502																																					p.L39L		.											C20orf79,NS,malignant_melanoma,0,1	C20orf79	0	1	Substitution - coding silent(1)	skin(1)	c.C115T						.						93	85	87					20																	18794574		2203	4300	6503	SO:0001819	synonymous_variant	140856	exon1			CTAGAGCTGTCAG	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"sterol carrier protein 2-like protein"		"chromosome 20 open reading frame 79"	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.115C>T	20.37:g.18794574C>T		15	0		36	3	NM_178483	Q548A4	Silent	SNP	ENST00000377428.2	37	CCDS13139.1																																																																																			.		0.502	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		T	18794574	C	T	18794574	2	4	7	1	0	0	0	0	0	0	0	1	2126	796	28	3		3	C20orf79	20	18794574	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	10091514	18794574	44230946	129	1088											
CHD6	84181	hgsc.bcm.edu	37	20	40161871	40161871	+	Silent	SNP	C	C	T	rs61756303		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:40161871C>T	ENST00000373233.3	-	3	549	c.372G>A	c.(370-372)ccG>ccA	p.P124P	CHD6_ENST00000373222.3_Silent_p.P159P|CHD6_ENST00000309279.7_Silent_p.P124P	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	124	Lys-rich.|Required for DNA-dependent ATPase activity.				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)				TTGGCTCTTTCGGTTCTCGTT	0.542																																					p.P124P		.											.	.	.	0			c.G372A						.						330	308	316					20																	40161871		2203	4300	6503	SO:0001819	synonymous_variant	84181	exon3			CTCTTTCGGTTCT	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.372G>A	20.37:g.40161871C>T		46	0		100	4	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																			.		0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40161871	C	T	40161871	2	4	7	1	0	0	0	0	0	0	0	1	3336	871	31	1		1	CHD6	20	40161871	Silent	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	21367297	40161871	22863649	130	1089											
VAPB	9217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	57016107	57016107	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:57016107C>A	ENST00000475243.1	+	5	879	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	181					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			AGGTGAAGTTCAGAGGCTACG	0.428																																					p.Q181K		.											.	.	.	0			c.C541A						.						93	86	88					20																	57016107		2203	4300	6503	SO:0001583	missense	9217	exon5			GAAGTTCAGAGGC	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.541C>A	20.37:g.57016107C>A	ENSP00000417175:p.Gln181Lys	38	0		56	27	NM_004738	A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	C	8.758	0.923007	0.18056	.	.	ENSG00000124164	ENST00000475243	T	0.30714	1.52	5.38	5.38	0.77491	.	0.057315	0.64402	D	0.000001	T	0.50548	0.1622	M	0.80028	2.48	0.80722	D	1	D;P	0.71674	0.998;0.799	D;B	0.66084	0.941;0.318	T	0.52403	-0.8580	10	0.06757	T	0.87	-23.0331	14.0422	0.64684	0.1508:0.8492:0.0:0.0	.	58;181	B4DNS4;O95292	.;VAPB_HUMAN	K	181	ENSP00000417175:Q181K	ENSP00000417175:Q181K	Q	+	1	0	VAPB	56449513	1.000000	0.71417	0.954000	0.39281	0.997000	0.91878	4.535000	0.60629	2.528000	0.85240	0.650000	0.86243	CAG	.		0.428	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			A	57016107	C	A	57016107	3	1	7	1	0	0	0	0	1	0	0	0	17171	827	29	3	559	3	VAPB	20	57016107	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09	16854236	57016107	6009413	131	1090											
RNF160	26046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	30332965	30332965	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr21:30332965C>T	ENST00000361371.5	-	12	2306	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	LTN1_ENST00000389194.2_Missense_Mutation_p.E789K			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	743					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						ACCAATTTCTCACCAAGGATA	0.388																																					p.E789K		.											.	.	.	0			c.G2365A						.						112	99	104					21																	30332965		2203	4300	6503	SO:0001583	missense	26046	exon12			ATTTCTCACCAAG	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.2227G>A	21.37:g.30332965C>T	ENSP00000354977:p.Glu743Lys	50	0		74	31	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.468419	0.84533	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.30981	1.51;1.54	5.25	5.25	0.73442	.	0.054818	0.64402	D	0.000001	T	0.47451	0.1446	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43310	-0.9399	10	0.72032	D	0.01	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	743	O94822	LTN1_HUMAN	K	789;743	ENSP00000373846:E789K;ENSP00000354977:E743K	ENSP00000354977:E743K	E	-	1	0	LTN1	29254836	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	6.286000	0.72665	2.894000	0.99253	0.591000	0.81541	GAG	.		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30332965	C	T	30332965	3	4	7	1	0	0	0	0	1	0	0	0	13500	835	29	3	3149	3	RNF160	21	30332965	Missense_Mutation	SNP	C	TCGA-4G-AAZT-01A-11D-A417-09		30332965	17796930	132	1091											
CLTCL1	8218	hgsc.bcm.edu	37	22	19213069	19213069	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr22:19213069G>T	ENST00000263200.10	-	13	2107	c.2035C>A	c.(2035-2037)Ctt>Att	p.L679I	CLTCL1_ENST00000427926.1_Missense_Mutation_p.L679I|CLTCL1_ENST00000353891.5_Missense_Mutation_p.L679I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	679	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)					CACAGCTGAAGGTTCTGTCTG	0.517			T	?	ALCL																																p.L679I		.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	.	.	0			c.C2035A						.						44	47	46					22																	19213069		2079	4228	6307	SO:0001583	missense	8218	exon13			GCTGAAGGTTCTG		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.2035C>A	22.37:g.19213069G>T	ENSP00000445677:p.Leu679Ile	17	0		26	4	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213851	0.79352	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.24538	1.85;1.85;1.85	4.0	4.0	0.46444	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.54498	0.1862	M	0.83118	2.625	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.999	T	0.62774	-0.6783	10	0.56958	D	0.05	-13.3561	16.6486	0.85183	0.0:0.0:1.0:0.0	.	679;679	P53675-2;P53675	.;CLH2_HUMAN	I	679	ENSP00000439662:L679I;ENSP00000445677:L679I;ENSP00000441158:L679I	ENSP00000445677:L679I	L	-	1	0	CLTCL1	17593069	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.969000	0.56816	2.220000	0.72140	0.655000	0.94253	CTT	.		0.517	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		T	19213069	G	T	19213069	3	4	7	1	0	0	0	0	1	0	0	0	3574	1000	35	3	2967	3	CLTCL1	22	19213069	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		19213069	32091497	133	1092											
CNKSR2	22866	broad.mit.edu	37	X	21534642	21534642	+	Missense_Mutation	SNP	G	G	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chrX:21534642G>C	ENST00000379510.3	+	9	886	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E284Q|CNKSR2_ENST00000425654.2_Missense_Mutation_p.E284Q|CNKSR2_ENST00000543067.1_Intron	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	284	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E284Q(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGCACTACGAGAGGACCCGAG	0.413																																					p.E284Q													.	CNKSR2	158	1	Substitution - Missense(1)	lung(1)	c.G850C						.						123	112	115					X																	21534642		2203	4300	6503	SO:0001583	missense	22866	exon9			CTACGAGAGGACC	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.850G>C	X.37:g.21534642G>C	ENSP00000368824:p.Glu284Gln	45	1		109	4	NM_001168647	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160334	0.57368	.	.	ENSG00000149970	ENST00000425654;ENST00000279451;ENST00000379510	T;T;T	0.28069	1.63;1.63;1.63	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.058118	0.64402	D	0.000001	T	0.48021	0.1477	L	0.49640	1.575	0.80722	D	1	D;B	0.60575	0.988;0.327	P;B	0.60886	0.88;0.241	T	0.42413	-0.9453	10	0.48119	T	0.1	-16.9667	17.8997	0.88900	0.0:0.0:1.0:0.0	.	284;284	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	Q	284	ENSP00000397906:E284Q;ENSP00000279451:E284Q;ENSP00000368824:E284Q	ENSP00000279451:E284Q	E	+	1	0	CNKSR2	21444563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.160000	0.67779	0.594000	0.82650	GAG	.		0.413	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		C	21534642	G	C	21534642	3	2	7	1	0	0	0	0	1	0	0	0	3614	943	33	5	884	5	CNKSR2	23	21534642	Missense_Mutation	SNP	G	TCGA-4G-AAZT-01A-11D-A417-09		21534642	133735918	134	1093											
NOL9	79707	hgsc.bcm.edu	37	1	6593398	6593398	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:6593398C>T	ENST00000377705.5	-	7	1211	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	393					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)		AAGCGCTGAACACATATTTCA	0.438																																					p.V393V		.											NOL9,NS,carcinoma,0,1	NOL9	0	0			c.G1179A						.						126	118	120					1																	6593398		2203	4300	6503	SO:0001819	synonymous_variant	79707	exon7			GCTGAACACATAT	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.1179G>A	1.37:g.6593398C>T		43	0		41	2	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	ENST00000377705.5	37	CCDS80.1																																																																																			.		0.438	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		T	6593398	C	T	6593398	2	4	8	1	0	0	0	0	0	0	0	1	10567	465	17	3		3	NOL9	1	6593398	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		6593398	242657223	1	1094											
PLEKHM2	23207	bcgsc.ca	37	1	16056369	16056369	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:16056369C>T	ENST00000375799.3	+	14	2380	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A698V	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	718					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)		CTGACGGATGCCACCATGGAG	0.537																																					p.A718V													.	PLEKHM2	94	0			c.C2153T						.						67	70	69					1																	16056369		1982	4169	6151	SO:0001583	missense	23207	exon14			CGGATGCCACCAT	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.2153C>T	1.37:g.16056369C>T	ENSP00000364956:p.Ala718Val	53	0		23	3	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325274	0.81580	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.52526	0.67;0.66	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.32530	0.975	0.80722	D	1	P	0.39809	0.689	B	0.35312	0.2	T	0.43228	-0.9404	10	0.66056	D	0.02	-27.3525	19.3302	0.94283	0.0:1.0:0.0:0.0	.	718	Q8IWE5	PKHM2_HUMAN	V	718;698	ENSP00000364956:A718V;ENSP00000364950:A698V	ENSP00000364950:A698V	A	+	2	0	PLEKHM2	15928956	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.263000	0.78421	2.572000	0.86782	0.591000	0.81541	GCC	.		0.537	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		T	16056369	C	T	16056369	3	4	8	1	0	0	0	0	1	0	0	0	12120	739	26	3	2207	3	PLEKHM2	1	16056369	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	9462971	16056369	233194252	2	1095											
EPHA2	1969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	16462176	16462176	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:16462176T>A	ENST00000358432.5	-	6	1556	c.1402A>T	c.(1402-1404)Aag>Tag	p.K468*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	468	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	ACCTCGTACTTCCACACTCGG	0.652																																					p.K468X		.											.	.	.	0			c.A1402T						.						64	61	62					1																	16462176		2203	4300	6503	SO:0001587	stop_gained	1969	exon6			CGTACTTCCACAC	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.1402A>T	1.37:g.16462176T>A	ENSP00000351209:p.Lys468*	75	0		45	9	NM_004431	B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	T	39	7.868116	0.98534	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	13.1243	0.59344	0.0:0.0:0.0:1.0	.	.	.	.	X	468	.	ENSP00000351209:K468X	K	-	1	0	EPHA2	16334763	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.069000	0.41481	1.996000	0.58369	0.454000	0.30748	AAG	.		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		A	16462176	T	A	16462176	4	1	8	1	0	0	0	0	0	1	0	0	5183	1792	62	5	1576	5	EPHA2	1	16462176	Nonsense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	405807	16462176	232788445	3	1096											
FBXO42	54455	hgsc.bcm.edu	37	1	16632409	16632409	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:16632409C>T	ENST00000375592.3	-	3	472	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	86	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									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)		CACTGATGGGCTACACCTAAG	0.408																																					p.A86T		.											FBXO42,NS,carcinoma,0,1	FBXO42	0	0			c.G256A						.						156	135	143					1																	16632409		2203	4300	6503	SO:0001583	missense	54455	exon3			GATGGGCTACACC	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.256G>A	1.37:g.16632409C>T	ENSP00000364742:p.Ala86Thr	26	0		20	2	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640899	0.96693	.	.	ENSG00000037637	ENST00000375592	T	0.03982	3.74	5.72	5.72	0.89469	F-box domain, cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	N	0.21583	0.68	0.80722	D	1	D	0.60160	0.987	P	0.60012	0.867	T	0.47086	-0.9144	10	0.10636	T	0.68	-16.5927	18.8634	0.92281	0.0:1.0:0.0:0.0	.	86	Q6P3S6	FBX42_HUMAN	T	86	ENSP00000364742:A86T	ENSP00000364742:A86T	A	-	1	0	FBXO42	16504996	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	7.376000	0.79658	2.711000	0.92665	0.655000	0.94253	GCC	.		0.408	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			T	16632409	C	T	16632409	3	4	8	1	0	0	0	0	1	0	0	0	5773	797	28	3	1929	3	FBXO42	1	16632409	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	170233	16632409	232618212	4	1097											
DLGAP3	58512	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	35370532	35370532	+	Silent	SNP	C	C	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:35370532C>G	ENST00000373347.1	-	3	721	c.453G>C	c.(451-453)ggG>ggC	p.G151G	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Silent_p.G151G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	151					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)				CTGGCGCTGGCCCGGGCCCTG	0.617																																					p.G151G		.											.	.	.	0			c.G453C						.						17	18	17					1																	35370532		2197	4291	6488	SO:0001819	synonymous_variant	58512	exon1			CGCTGGCCCGGGC	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.453G>C	1.37:g.35370532C>G		17	0		13	4	NM_001080418	Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	CCDS30670.1																																																																																			.		0.617	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		G	35370532	C	G	35370532	2	3	8	1	0	0	0	0	0	0	0	1	4575	726	26	5		5	DLGAP3	1	35370532	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	18738123	35370532	213880089	5	1098											
ZMYM4	9202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	35824927	35824927	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:35824927A>C	ENST00000314607.6	+	3	567	c.487A>C	c.(487-489)Aaa>Caa	p.K163Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.K163Q|ZMYM4-AS1_ENST00000432683.1_RNA	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	163					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)				AGAAAACAGCAAAGAGACATT	0.308																																					p.K163Q		.											.	.	.	0			c.A487C						.						35	36	35					1																	35824927		2199	4293	6492	SO:0001583	missense	9202	exon3			AACAGCAAAGAGA	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.487A>C	1.37:g.35824927A>C	ENSP00000322915:p.Lys163Gln	118	0		82	28	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257830	0.22965	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.26223	1.8;1.75	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000010	T	0.14917	0.0360	N	0.17082	0.46	0.28744	N	0.901809	B	0.17038	0.02	B	0.12837	0.008	T	0.16217	-1.0410	10	0.13108	T	0.6	-12.9097	11.6618	0.51352	0.852:0.148:0.0:0.0	.	163	Q5VZL5	ZMYM4_HUMAN	Q	163	ENSP00000322915:K163Q;ENSP00000362394:K163Q	ENSP00000322915:K163Q	K	+	1	0	ZMYM4	35597514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.294000	0.59043	2.101000	0.63845	0.528000	0.53228	AAA	.		0.308	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		C	35824927	A	C	35824927	3	2	8	1	0	0	0	0	1	0	0	0	17750	131	5	4	497	4	ZMYM4	1	35824927	Missense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	454395	35824927	213425694	6	1099											
EIF2C3	192669	hgsc.bcm.edu	37	1	36501846	36501846	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:36501846G>T	ENST00000373191.4	+	14	2169	c.1820G>T	c.(1819-1821)gGa>gTa	p.G607V	AGO3_ENST00000246314.6_Missense_Mutation_p.G373V	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	607	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)										GCTGGTGATGGAAAGAAGCCT	0.398																																					p.G607V		.											EIF2C3,NS,carcinoma,0,1	EIF2C3	0	0			c.G1820T						.						167	157	160					1																	36501846		2203	4300	6503	SO:0001583	missense	192669	exon14			GTGATGGAAAGAA	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.1820G>T	1.37:g.36501846G>T	ENSP00000362287:p.Gly607Val	77	0		42	2	NM_024852	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809138	0.70797	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.27256	1.68;1.68	5.51	5.51	0.81932	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	L	0.28776	0.89	0.80722	D	1	B	0.15141	0.012	B	0.28553	0.091	T	0.04029	-1.0983	10	0.49607	T	0.09	-40.6225	19.7828	0.96424	0.0:0.0:1.0:0.0	.	607	Q9H9G7	AGO3_HUMAN	V	607;373	ENSP00000362287:G607V;ENSP00000246314:G373V	ENSP00000246314:G373V	G	+	2	0	EIF2C3	36274433	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.850000	0.99511	2.747000	0.94245	0.650000	0.86243	GGA	.		0.398	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		T	36501846	G	T	36501846	3	4	8	1	0	0	0	0	1	0	0	0	5021	1174	41	3	1874	3	EIF2C3	1	36501846	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	676919	36501846	212748775	7	1100											
RAD54L	8438	bcgsc.ca	37	1	46733249	46733249	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:46733249G>T	ENST00000371975.4	+	9	1684	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	RAD54L_ENST00000442598.1_Missense_Mutation_p.S337I|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	337	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGTATTTCAGCTTGGTACAT	0.493								Direct reversal of damage;Homologous recombination																													p.S337I													.	RAD54L	64	0			c.G1010T						.						74	73	73					1																	46733249		2203	4300	6503	SO:0001583	missense	8438	exon9			ATTTCAGCTTGGT	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1010G>T	1.37:g.46733249G>T	ENSP00000361043:p.Ser337Ile	54	0		54	5	NM_003579	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404941	0.96051	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.94576	-3.46;-3.46	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.976;0.999	D	0.99628	1.0985	10	0.87932	D	0	-14.3922	19.0329	0.92965	0.0:0.0:1.0:0.0	.	157;337	G3V1N0;Q92698	.;RAD54_HUMAN	I	337;337;157	ENSP00000396113:S337I;ENSP00000361043:S337I	ENSP00000361043:S337I	S	+	2	0	RAD54L	46505836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.524000	0.98036	2.486000	0.83907	0.561000	0.74099	AGC	.		0.493	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		T	46733249	G	T	46733249	3	4	8	1	0	0	0	0	1	0	0	0	13038	971	34	3	1044	3	RAD54L	1	46733249	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	10231403	46733249	202517372	8	1101											
PCSK9	255738	hgsc.bcm.edu	37	1	55529044	55529044	+	Silent	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:55529044G>T	ENST00000302118.5	+	12	2156	c.1866G>T	c.(1864-1866)gtG>gtT	p.V622V	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	622	C-terminal domain.				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						TCTGGCAGGTGACCGTGGCCT	0.632																																					p.V622V	Pancreas(137;1454 1827 5886 22361 42375)	.											.	.	.	0			c.G1866T						.						29	30	30					1																	55529044		2203	4300	6503	SO:0001819	synonymous_variant	255738	exon12			GCAGGTGACCGTG	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.1866G>T	1.37:g.55529044G>T		117	0		83	4	NM_174936	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																			.		0.632	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		T	55529044	G	T	55529044	2	4	8	1	0	0	0	0	0	0	0	1	11645	1277	45	3		3	PCSK9	1	55529044	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	8795795	55529044	193721577	9	1102											
TUFT1	7286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	151553512	151553512	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:151553512C>T	ENST00000368849.3	+	12	1165	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L	TUFT1_ENST00000392712.3_Missense_Mutation_p.P313L|TUFT1_ENST00000368848.2_Missense_Mutation_p.P343L|TUFT1_ENST00000538902.1_Missense_Mutation_p.P387L|TUFT1_ENST00000353024.3_Missense_Mutation_p.P309L	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	368					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	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)			ACAGAGAACCCGGGCAGGTGA	0.517																																					p.P368L		.											.	.	.	0			c.C1103T						.						51	52	51					1																	151553512		2203	4300	6503	SO:0001583	missense	7286	exon12			AGAACCCGGGCAG	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.1103C>T	1.37:g.151553512C>T	ENSP00000357842:p.Pro368Leu	44	0		34	14	NM_020127	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	C	4.379	0.069837	0.08436	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.16897	2.35;2.36;2.35;2.35;2.31	4.96	-1.56	0.08532	.	0.595996	0.17158	N	0.184818	T	0.01765	0.0056	N	0.05383	-0.06	0.31332	N	0.684748	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.09377	0.002;0.002;0.004	T	0.47100	-0.9143	10	0.20519	T	0.43	3.8478	5.2047	0.15285	0.0:0.4388:0.1771:0.3841	.	387;343;368	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	L	368;313;309;343;387	ENSP00000357842:P368L;ENSP00000376476:P313L;ENSP00000343781:P309L;ENSP00000357841:P343L;ENSP00000437997:P387L	ENSP00000343781:P309L	P	+	2	0	TUFT1	149820136	0.548000	0.26473	0.759000	0.31340	0.685000	0.39939	-0.471000	0.06631	-0.432000	0.07297	0.655000	0.94253	CCG	.		0.517	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		T	151553512	C	T	151553512	3	4	8	1	0	0	0	0	1	0	0	0	16821	652	23	1	1149	1	TUFT1	1	151553512	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	96024468	151553512	97697109	10	1103											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	158605703	158605703	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:158605703C>T	ENST00000368147.4	-	38	5612	c.5432G>A	c.(5431-5433)cGa>cAa	p.R1811Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1811					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)					TCCCACTCACCGGGCCTTGGC	0.532																																					p.R1811Q		.											.	.	.	0			c.G5432A						.						74	77	76					1																	158605703		1926	4140	6066	SO:0001630	splice_region_variant	6708	exon38			ACTCACCGGGCCT	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.5432+1G>A	1.37:g.158605703C>T		37	0		33	13	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697918	0.96802	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.62639	0.01;0.14	5.65	5.65	0.86999	.	0.000000	0.27139	N	0.020757	D	0.84977	0.5592	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88488	0.3073	9	.	.	.	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	1811	P02549	SPTA1_HUMAN	Q	1811	ENSP00000357130:R1811Q;ENSP00000357129:R1811Q	.	R	-	2	0	SPTA1	156872327	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	CGA	.		0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	T	158605703	C	T	158605703	5	4	8	1	0	0	0	0	0	0	1	0	15163	666	23	1	1887	1	SPTA1	1	158605703	Splice_Site	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	7052191	158605703	90644918	11	1104											
F5	2153	hgsc.bcm.edu	37	1	169500257	169500257	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:169500257G>T	ENST00000367797.3	-	15	5176	c.4975C>A	c.(4975-4977)Cgt>Agt	p.R1659S	F5_ENST00000367796.3_Missense_Mutation_p.R1664S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1659	F5/8 type A 3.|Plastocyanin-like 5.				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)	TTTTTAAAACGAACCTAGGAA	0.343																																					p.R1659S		.											F5,NS,carcinoma,0,1	F5	0	0			c.C4975A						.						72	72	72					1																	169500257		2203	4300	6503	SO:0001583	missense	2153	exon15			TAAAACGAACCTA	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.4975C>A	1.37:g.169500257G>T	ENSP00000356771:p.Arg1659Ser	43	0		47	2	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261753	0.39995	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99005	-5.32;-5.32	5.49	5.49	0.81192	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.506161	0.23638	N	0.046046	D	0.96134	0.8740	L	0.41492	1.28	0.27363	N	0.955915	B	0.25719	0.132	B	0.29785	0.107	D	0.94668	0.7854	9	0.29301	T	0.29	-2.1826	14.253	0.66033	0.0:0.0:0.8511:0.1489	.	1659	P12259	FA5_HUMAN	S	1659;1664	ENSP00000356771:R1659S;ENSP00000356770:R1664S	ENSP00000356770:R1664S	R	-	1	0	F5	167766881	0.999000	0.42202	0.997000	0.53966	0.919000	0.55068	4.489000	0.60309	2.586000	0.87340	0.655000	0.94253	CGT	.		0.343	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		T	169500257	G	T	169500257	3	4	8	1	0	0	0	0	1	0	0	0	5364	1058	37	2	1743	2	F5	1	169500257	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	10894554	169500257	79750364	12	1105											
BAT2L2	23215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	171535854	171535854	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:171535854C>A	ENST00000338920.4	+	22	6661	c.6424C>A	c.(6424-6426)Cca>Aca	p.P2142T	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2144T|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2142T|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P2144T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2142					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACAAGAGAAACCAAGCCCAGC	0.423																																					p.P2142T		.											.	.	.	0			c.C6424A						.						75	72	73					1																	171535854		2203	4300	6503	SO:0001583	missense	23215	exon22			GAGAAACCAAGCC	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.6424C>A	1.37:g.171535854C>A	ENSP00000343629:p.Pro2142Thr	83	0		63	15	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.233|4.233	0.042170|0.042170	0.08196|0.08196	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02067	.|4.53;4.47;4.54;4.54	5.46|5.46	-1.69|-1.69	0.08186|0.08186	.|.	.|0.484707	.|0.17303	.|N	.|0.179181	T|T	0.00412|0.00412	0.0013|0.0013	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.09377	.|0.004	T|T	0.45469|0.45469	-0.9259|-0.9259	5|10	.|0.39692	.|T	.|0.17	.|.	2.5896|2.5896	0.04839|0.04839	0.1092:0.4069:0.2155:0.2684|0.1092:0.4069:0.2155:0.2684	.|.	.|2142	.|Q9Y520-4	.|.	K|T	689|2144;2096;2142;2144;2142;1899	.|ENSP00000375928:P2144T;ENSP00000410219:P2142T;ENSP00000356716:P2144T;ENSP00000343629:P2142T	.|ENSP00000343629:P2142T	N|P	+|+	3|1	2|0	PRRC2C|PRRC2C	169802478|169802478	0.921000|0.921000	0.31238|0.31238	0.529000|0.529000	0.27951|0.27951	0.568000|0.568000	0.35870|0.35870	0.206000|0.206000	0.17375|0.17375	0.021000|0.021000	0.15133|0.15133	-1.984000|-1.984000	0.00453|0.00453	AAC|CCA	.		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		A	171535854	C	A	171535854	3	1	8	1	0	0	0	0	1	0	0	0	1322	507	18	3	6506	3	BAT2L2	1	171535854	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	2035597	171535854	77714767	13	1106											
HMCN1	83872	hgsc.bcm.edu	37	1	186064631	186064631	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:186064631G>T	ENST00000271588.4	+	68	10780	c.10551G>T	c.(10549-10551)aaG>aaT	p.K3517N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3517N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3517					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						AAGTCAGCAAGCACTTTATCC	0.403																																					p.K3517N		.											.	.	.	0			c.G10551T						.						99	93	95					1																	186064631		2203	4300	6503	SO:0001583	missense	83872	exon68			CAGCAAGCACTTT	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.10551G>T	1.37:g.186064631G>T	ENSP00000271588:p.Lys3517Asn	76	0		70	3	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511260	0.64522	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68903	-0.36;-0.36	5.31	1.67	0.24075	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.218606	0.47093	D	0.000258	T	0.58395	0.2119	M	0.70108	2.13	0.32384	N	0.554179	P	0.38395	0.629	B	0.37198	0.243	T	0.60316	-0.7287	10	0.19147	T	0.46	.	7.9142	0.29808	0.4557:0.0:0.5443:0.0	.	3517	Q96RW7	HMCN1_HUMAN	N	3517	ENSP00000271588:K3517N;ENSP00000356462:K3517N	ENSP00000271588:K3517N	K	+	3	2	HMCN1	184331254	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.634000	0.24614	0.498000	0.27948	-0.131000	0.14894	AAG	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186064631	G	T	186064631	3	4	8	1	0	0	0	0	1	0	0	0	7247	962	34	3	10821	3	HMCN1	1	186064631	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	14528777	186064631	63185990	14	1107											
CRB1	23418	hgsc.bcm.edu	37	1	197313409	197313409	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:197313409A>G	ENST00000367400.3	+	3	787		c.e3-1		CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						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)			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						CTTTTTTAAAAGGTGTAAACT	0.383																																					.		.											.	.	.	0			c.446-2A>G						.						136	141	139					1																	197313409		2203	4300	6503	SO:0001630	splice_region_variant	23418	exon5			TTTAAAAGGTGTA		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.653-1A>G	1.37:g.197313409A>G		106	0		90	4	NM_001257965	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276795	0.23307	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5951	0.68400	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195580032	1.000000	0.71417	0.748000	0.31131	0.064000	0.16182	8.328000	0.90014	1.979000	0.57680	0.455000	0.32223	.	.		0.383	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Intron	G	197313409	A	G	197313409	5	3	8	1	0	0	0	0	0	0	1	0	3855	86	3	4	661	4	CRB1	1	197313409	Splice_Site	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	11248778	197313409	51937212	15	1108											
PKP1	5317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	201286846	201286846	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:201286846C>T	ENST00000352845.3	+	5	993	c.993C>T	c.(991-993)atC>atT	p.I331I	PKP1_ENST00000263946.3_Silent_p.I331I|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000367324.3_Silent_p.I331I			Q13835	PKP1_HUMAN	plakophilin 1	331					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						AGAATGGGATCCGCGAGGCAG	0.657																																					p.I331I		.											.	.	.	0			c.C993T						.						34	36	35					1																	201286846		2203	4300	6503	SO:0001819	synonymous_variant	5317	exon5			TGGGATCCGCGAG	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.993C>T	1.37:g.201286846C>T		45	0		45	5	NM_001005337	O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	CCDS30966.1																																																																																			.		0.657	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		T	201286846	C	T	201286846	2	4	8	1	0	0	0	0	0	0	0	1	12023	845	30	3		3	PKP1	1	201286846	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	3973437	201286846	47963775	16	1109											
CNTN2	6900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	205027755	205027755	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:205027755G>T	ENST00000331830.4	+	5	735	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	151	Ig-like C2-type 2.				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)			AGGCTGGGGGGTGATGTTGCC	0.607																																					p.V151L	Melanoma(183;2548 2817 37099 41192)	.											.	.	.	0			c.G451T						.						48	47	48					1																	205027755		2203	4300	6503	SO:0001583	missense	6900	exon5			TGGGGGGTGATGT	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.451G>T	1.37:g.205027755G>T	ENSP00000330633:p.Val151Leu	46	0		32	13	NM_005076	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805218	0.50315	.	.	ENSG00000184144	ENST00000331830	T	0.03580	3.88	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000202	T	0.04452	0.0122	L	0.33137	0.985	0.43608	D	0.995972	B;B;B	0.15719	0.014;0.014;0.007	B;B;B	0.17098	0.017;0.017;0.017	T	0.48927	-0.8991	10	0.20046	T	0.44	.	17.4492	0.87587	0.0:0.0:1.0:0.0	.	151;151;42	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	L	151	ENSP00000330633:V151L	ENSP00000330633:V151L	V	+	1	0	CNTN2	203294378	0.992000	0.36948	0.990000	0.47175	0.938000	0.57974	2.143000	0.42187	2.223000	0.72356	0.555000	0.69702	GTG	.		0.607	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		T	205027755	G	T	205027755	3	4	8	1	0	0	0	0	1	0	0	0	3648	1261	44	3	465	3	CNTN2	1	205027755	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	3740909	205027755	44222866	17	1110											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	237777618	237777618	+	Silent	SNP	G	G	A	rs397516541		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:237777618G>A	ENST00000366574.2	+	37	5507	c.5190G>A	c.(5188-5190)acG>acA	p.T1730T	RYR2_ENST00000542537.1_Silent_p.T1714T|RYR2_ENST00000360064.6_Silent_p.T1728T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1730	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)			TCCCCATGACGGAGGAGACGA	0.547																																					p.T1730T		.											.	.	.	0			c.G5190A						.						63	62	63					1																	237777618		2121	4237	6358	SO:0001819	synonymous_variant	6262	exon37			CATGACGGAGGAG	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.5190G>A	1.37:g.237777618G>A		37	0		30	8	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237777618	G	A	237777618	2	1	8	1	0	0	0	0	0	0	0	1	13814	1103	39	1		1	RYR2	1	237777618	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	32749863	237777618	11473003	18	1111											
RGS7	6000	hgsc.bcm.edu	37	1	240979680	240979680	+	Silent	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:240979680G>A	ENST00000407727.1	-	10	719	c.720C>T	c.(718-720)caC>caT	p.H240H	RGS7_ENST00000366562.4_Silent_p.H240H|RGS7_ENST00000366564.1_Silent_p.H240H|RGS7_ENST00000446183.2_Silent_p.H156H|RGS7_ENST00000366565.1_Silent_p.H240H|RGS7_ENST00000348120.2_Silent_p.H187H|RGS7_ENST00000366563.1_Silent_p.H240H|RGS7_ENST00000401882.1_Silent_p.H187H|RGS7_ENST00000331110.7_Silent_p.H214H			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	240					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)			GGGTAGGACTGTGACTTCTAA	0.348																																					p.H240H		.											.	.	.	0			c.C720T						.						302	272	282					1																	240979680		2203	4300	6503	SO:0001819	synonymous_variant	6000	exon11			AGGACTGTGACTT	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.720C>T	1.37:g.240979680G>A		115	0		100	4	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37																																																																																				.		0.348	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		A	240979680	G	A	240979680	2	1	8	1	0	0	0	0	0	0	0	1	13355	1368	48	3		3	RGS7	1	240979680	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	3202062	240979680	8270941	19	1112											
SH3BP5L	80851	hgsc.bcm.edu	37	1	249119038	249119038	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr1:249119038C>T	ENST00000366472.5	-	2	1326	c.97G>A	c.(97-99)Gca>Aca	p.A33T	SH3BP5L_ENST00000475978.1_5'UTR|MIR3124_ENST00000582636.1_RNA	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	33										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTCTGCGACTGGGCTC	0.587																																					p.A33T		.											SH3BP5L,NS,carcinoma,0,1	SH3BP5L	0	0			c.G97A						.						149	151	150					1																	249119038		2203	4300	6503	SO:0001583	missense	80851	exon2			CTTCTGCGACTGG	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.97G>A	1.37:g.249119038C>T	ENSP00000355428:p.Ala33Thr	41	0		34	2	NM_030645	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	7.378	0.628247	0.14257	.	.	ENSG00000175137	ENST00000366472	.	.	.	4.19	-3.36	0.04913	.	1.252050	0.05704	N	0.594686	T	0.14399	0.0348	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	9	0.08381	T	0.77	-0.0944	0.1798	0.00122	0.2965:0.2565:0.1457:0.3013	.	33	Q7L8J4	3BP5L_HUMAN	T	33	.	ENSP00000355428:A33T	A	-	1	0	SH3BP5L	247085661	0.000000	0.05858	0.003000	0.11579	0.667000	0.39255	-0.118000	0.10692	-0.402000	0.07633	-0.905000	0.02835	GCA	.		0.587	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		T	249119038	C	T	249119038	3	4	8	1	0	0	0	0	1	0	0	0	14293	768	27	1	1108	1	SH3BP5L	1	249119038	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	8139358	249119038	131583	20	1113											
GREB1	9687	hgsc.bcm.edu	37	2	11720942	11720942	+	Silent	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:11720942G>T	ENST00000381486.2	+	7	1185	c.885G>T	c.(883-885)ccG>ccT	p.P295P	GREB1_ENST00000389825.3_Silent_p.P185P|GREB1_ENST00000263834.5_Silent_p.P295P|GREB1_ENST00000381483.2_Silent_p.P295P|GREB1_ENST00000234142.5_Silent_p.P295P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	295						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)		TGGCCCTGCCGCGACCATCGG	0.592																																					p.P295P	Ovarian(39;850 945 2785 23371 33093)	.											GREB1_ENST00000381486,caecum,carcinoma,0,3	GREB1_ENST00000381486	0	0			c.G885T						.						48	47	47					2																	11720942		2203	4300	6503	SO:0001819	synonymous_variant	9687	exon7			CCTGCCGCGACCA		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.885G>T	2.37:g.11720942G>T		56	0		53	3	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																			.		0.592	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11720942	G	T	11720942	2	4	8	1	0	0	0	0	0	0	0	1	6787	1074	38	2		2	GREB1	2	11720942	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		11720942	231478431	21	1114											
MAP4K3	8491	broad.mit.edu	37	2	39564669	39564669	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:39564669G>T	ENST00000263881.3	-	5	688	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q122K|MAP4K3_ENST00000437545.1_Missense_Mutation_p.Q59K	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				TGATTTACCTGCAGTGTTTCT	0.313																																					p.Q122K													.	MAP4K3	109	0			c.C364A						.						119	116	117					2																	39564669		2203	4295	6498	SO:0001583	missense	8491	exon5			TTACCTGCAGTGT	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.364C>A	2.37:g.39564669G>T	ENSP00000263881:p.Gln122Lys	88	0		70	3	NM_001270425	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369019	0.42003	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.64085	-0.08;-0.08;-0.08	4.68	4.68	0.58851	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	0.47838	0.1467	N	0.04043	-0.29	0.80722	D	1	B;B	0.28880	0.032;0.226	B;B	0.41174	0.055;0.349	T	0.45963	-0.9225	9	.	.	.	.	16.7068	0.85374	0.0:0.0:1.0:0.0	.	122;122	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	K	122;59;122	ENSP00000263881:Q122K;ENSP00000416958:Q59K;ENSP00000345434:Q122K	.	Q	-	1	0	MAP4K3	39418173	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	8.181000	0.89696	2.330000	0.79161	0.484000	0.47621	CAG	.		0.313	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		T	39564669	G	T	39564669	3	4	8	1	0	0	0	0	1	0	0	0	9299	1328	46	3	2440	3	MAP4K3	2	39564669	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	27843727	39564669	203634704	22	1115											
KCMF1	56888	hgsc.bcm.edu	37	2	85280314	85280314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:85280314G>T	ENST00000409785.4	+	7	1287	c.928G>T	c.(928-930)Gaa>Taa	p.E310*		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	310							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCAGTCCATGGAAAGCGAGCG	0.463																																					p.E310X		.											KCMF1_ENST00000409785,NS,carcinoma,0,1	KCMF1_ENST00000409785	0	0			c.G928T						.						45	48	47					2																	85280314		1957	4160	6117	SO:0001587	stop_gained	56888	exon7			TCCATGGAAAGCG	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.928G>T	2.37:g.85280314G>T	ENSP00000386738:p.Glu310*	59	0		41	2	NM_020122	Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Nonsense_Mutation	SNP	ENST00000409785.4	37	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	G	41	8.572977	0.98868	.	.	ENSG00000176407	ENST00000409785	.	.	.	6.07	6.07	0.98685	.	0.095210	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.8005	18.1463	0.89656	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000386738:E310X	E	+	1	0	KCMF1	85133825	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.589000	0.98235	2.890000	0.99128	0.585000	0.79938	GAA	.		0.463	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		T	85280314	G	T	85280314	4	4	8	1	0	0	0	0	0	1	0	0	8027	1175	41	3	954	3	KCMF1	2	85280314	Nonsense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	45715645	85280314	157919059	23	1116											
ARID5A	10865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	97217620	97217620	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:97217620C>T	ENST00000357485.3	+	7	1433	c.1355C>T	c.(1354-1356)gCt>gTt	p.A452V	ARID5A_ENST00000454558.2_Missense_Mutation_p.A384V	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	452					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GAAGAGGGTGCTGCCCACAGT	0.672																																					p.A452V		.											.	.	.	0			c.C1355T						.						26	26	26					2																	97217620		2203	4300	6503	SO:0001583	missense	10865	exon7			AGGGTGCTGCCCA	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1355C>T	2.37:g.97217620C>T	ENSP00000350078:p.Ala452Val	20	0		16	4	NM_212481	Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540544	0.27563	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.62788	0.0	5.31	-0.121	0.13535	.	1.469050	0.04197	N	0.329295	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B;B	0.22480	0.07;0.022;0.022	B;B;B	0.16289	0.015;0.01;0.01	T	0.10847	-1.0612	10	0.19147	T	0.46	0.2372	3.006	0.06028	0.3036:0.1787:0.0:0.5177	.	452;384;452	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	V	452;452;384	ENSP00000350078:A452V	ENSP00000350078:A452V	A	+	2	0	ARID5A	96581347	0.225000	0.23685	0.002000	0.10522	0.239000	0.25481	0.203000	0.17315	-0.186000	0.10533	-0.312000	0.09012	GCT	.		0.672	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		T	97217620	C	T	97217620	3	4	8	1	0	0	0	0	1	0	0	0	921	797	28	3	1381	3	ARID5A	2	97217620	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	11937306	97217620	145981753	24	1117											
SLC35F5	80255	hgsc.bcm.edu	37	2	114500277	114500277	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:114500277A>C	ENST00000245680.2	-	7	1155	c.742T>G	c.(742-744)Tgc>Ggc	p.C248G	SLC35F5_ENST00000409342.1_Missense_Mutation_p.C242G	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	248					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.C248fs*22(2)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACCACAAAGCAAAAAAAAAAG	0.343																																					p.C248G		.											SLC35F5,colon,carcinoma,+2,12	SLC35F5	+2	3	Deletion - Frameshift(2)|Unknown(1)	ovary(2)|skin(1)	c.T742G						.						105	103	104					2																	114500277		2203	4300	6503	SO:0001583	missense	80255	exon7			CAAAGCAAAAAAA	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.742T>G	2.37:g.114500277A>C	ENSP00000245680:p.Cys248Gly	52	0		69	3	NM_025181	Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447823	0.84101	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.48522	0.81;0.81	5.0	5.0	0.66597	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.83223	2.63	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.996;0.995	T	0.74529	-0.3635	10	0.52906	T	0.07	-2.4109	15.1644	0.72811	1.0:0.0:0.0:0.0	.	248;242;248	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	G	248;242;242	ENSP00000245680:C248G;ENSP00000386754:C242G	ENSP00000245680:C248G	C	-	1	0	SLC35F5	114216747	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.439000	0.90308	2.232000	0.73038	0.528000	0.53228	TGC	.		0.343	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		C	114500277	A	C	114500277	3	2	8	1	0	0	0	0	1	0	0	0	14637	130	5	4	865	4	SLC35F5	2	114500277	Missense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	17282657	114500277	128699096	25	1118											
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	170103393	170103393	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:170103393C>A	ENST00000263816.3	-	21	3297	c.3012G>T	c.(3010-3012)atG>atT	p.M1004I	LRP2_ENST00000443831.1_Missense_Mutation_p.M867I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1004	EGF-like 4. {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)"	AAGCCAGCCTCATTCCATAAG	0.527																																					p.M1004I		.											.	.	.	0			c.G3012T						.						93	85	87					2																	170103393		2203	4300	6503	SO:0001583	missense	4036	exon21			CAGCCTCATTCCA		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.3012G>T	2.37:g.170103393C>A	ENSP00000263816:p.Met1004Ile	39	0		32	7	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879897	0.91740	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	T;T	0.40756	1.02;1.02	5.79	5.79	0.91817	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	M	0.65677	2.01	0.80722	D	1	D;D	0.62365	0.991;0.975	D;D	0.77004	0.989;0.942	T	0.54166	-0.8334	10	0.20046	T	0.44	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	867;1004	E9PC35;P98164	.;LRP2_HUMAN	I	1004;867	ENSP00000263816:M1004I;ENSP00000409813:M867I	ENSP00000263816:M1004I	M	-	3	0	LRP2	169811639	1.000000	0.71417	0.992000	0.48379	0.758000	0.43043	7.526000	0.81920	2.746000	0.94184	0.655000	0.94253	ATG	.		0.527	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170103393	C	A	170103393	3	1	8	1	0	0	0	0	1	0	0	0	8991	826	29	3	11191	3	LRP2	2	170103393	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	55603116	170103393	73095980	26	1119											
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	204022462	204022462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:204022462delG	ENST00000449802.1	+	35	5874	c.5541delG	c.(5539-5541)ttgfs	p.L1847fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1847										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						CATTGCTTTTGGAAGTAGTGA	0.308																																					p.L1847fs		.											.	.	.	0			c.5540delT						.						122	117	119					2																	204022462		1821	4084	5905	SO:0001589	frameshift_variant	65065	exon35			GCTTTTGGAAGTA	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.5541delG	2.37:g.204022462delG	ENSP00000399903:p.Leu1847fs	48	0		88	26	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Del	DEL	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.308	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			-	204022462	G	-	204022462	7	5	8	1	0	1	0	1	0	0	0	0	10226	1339	47	0	5675	0	NBEAL1	2	204022462	Frame_Shift_Del	DEL	G	TCGA-W5-AA2G-01A-11D-A417-09	33919069	204022462	39176911	27	1120											
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																p.R132C	Pancreas(158;264 1958 3300 35450 36047)	.		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	IDH1,NS,haematopoietic_neoplasm,0,788	IDH1	0	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	c.C394T						.						81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417	exon4			CATGACGACCTAT		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	51	0		49	20	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	.		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			A	209113113	G	A	209113113	3	1	8	1	0	0	0	0	1	0	0	0	7521	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	5090651	209113113	34086260	28	1121											
FN1	2335	ucsc.edu;bcgsc.ca	37	2	216271210	216271210	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr2:216271210G>T	ENST00000359671.1	-	19	3002	c.2737C>A	c.(2737-2739)Ctg>Atg	p.L913M	FN1_ENST00000336916.4_Missense_Mutation_p.L913M|FN1_ENST00000346544.3_Missense_Mutation_p.L913M|FN1_ENST00000357009.2_Missense_Mutation_p.L913M|FN1_ENST00000345488.5_Missense_Mutation_p.L913M|FN1_ENST00000357867.4_Missense_Mutation_p.L913M|FN1_ENST00000432072.2_Missense_Mutation_p.L913M|FN1_ENST00000356005.4_Missense_Mutation_p.L913M|FN1_ENST00000443816.1_Missense_Mutation_p.L913M|FN1_ENST00000354785.4_Missense_Mutation_p.L913M|FN1_ENST00000323926.6_Missense_Mutation_p.L913M|FN1_ENST00000446046.1_Missense_Mutation_p.L913M|FN1_ENST00000421182.1_Missense_Mutation_p.L913M			P02751	FINC_HUMAN	fibronectin 1	913	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				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)	ACAAACTGCAGGTCCCTGGGA	0.502																																					p.L913M													.	FN1	521	0			c.C2737A						.						63	54	57					2																	216271210		2203	4300	6503	SO:0001583	missense	2335	exon19			ACTGCAGGTCCCT		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.2737C>A	2.37:g.216271210G>T	ENSP00000352696:p.Leu913Met	34	0		27	4	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	22.7	4.321389	0.81580	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.93	5.93	0.95920	.	0.000000	0.49916	D	0.000140	T	0.79393	0.4438	M	0.82056	2.57	0.80722	D	1	D;D;D;P;D;D;D;P;P;D	0.89917	0.999;0.995;1.0;0.832;0.998;0.995;1.0;0.832;0.832;0.999	D;D;D;P;D;D;D;P;P;D	0.87578	0.986;0.979;0.996;0.857;0.985;0.979;0.995;0.857;0.857;0.998	T	0.80564	-0.1326	10	0.59425	D	0.04	.	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	913;913;913;913;913;913;913;913;913;913	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	M	913	ENSP00000394423:L913M;ENSP00000323534:L913M;ENSP00000338200:L913M;ENSP00000350534:L913M;ENSP00000346839:L913M;ENSP00000352696:L913M;ENSP00000265312:L913M;ENSP00000273049:L913M;ENSP00000349509:L913M;ENSP00000410422:L913M;ENSP00000415018:L913M;ENSP00000399538:L913M;ENSP00000348285:L913M	ENSP00000265313:L913M	L	-	1	2	FN1	215979455	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.954000	0.63631	2.805000	0.96524	0.655000	0.94253	CTG	.		0.502	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216271210	G	T	216271210	3	4	8	1	0	0	0	0	1	0	0	0	5984	991	35	3	4808	3	FN1	2	216271210	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	7158097	216271210	26928163	29	1122											
ZNF385D	79750	hgsc.bcm.edu	37	3	21462759	21462759	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:21462759C>A	ENST00000281523.2	-	8	1653	c.1135G>T	c.(1135-1137)Gct>Tct	p.A379S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	379						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						GGTCCAGGAGCTGGCCGCAGG	0.517																																					p.A379S		.											.	.	.	0			c.G1135T						.						49	47	48					3																	21462759		2203	4300	6503	SO:0001583	missense	79750	exon8			CAGGAGCTGGCCG	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.1135G>T	3.37:g.21462759C>A	ENSP00000281523:p.Ala379Ser	98	0		51	4	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324154	0.60634	.	.	ENSG00000151789	ENST00000281523	T	0.49720	0.77	5.95	5.95	0.96441	.	0.052183	0.85682	D	0.000000	T	0.44095	0.1277	L	0.49126	1.545	0.58432	D	0.999994	P	0.43094	0.799	B	0.33799	0.17	T	0.46359	-0.9197	10	0.51188	T	0.08	-31.2942	20.3747	0.98911	0.0:1.0:0.0:0.0	.	379	Q9H6B1	Z385D_HUMAN	S	379	ENSP00000281523:A379S	ENSP00000281523:A379S	A	-	1	0	ZNF385D	21437763	1.000000	0.71417	0.924000	0.36721	0.992000	0.81027	5.869000	0.69613	2.819000	0.97034	0.557000	0.71058	GCT	.		0.517	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		A	21462759	C	A	21462759	3	1	8	1	0	0	0	0	1	0	0	0	17926	797	28	3	56	3	ZNF385D	3	21462759	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		21462759	176559671	30	1123											
ULK4	54986	hgsc.bcm.edu	37	3	41860985	41860985	+	Missense_Mutation	SNP	T	T	C	rs76318575		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:41860985T>C	ENST00000301831.4	-	19	2240	c.1778A>G	c.(1777-1779)aAg>aGg	p.K593R		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593					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.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTAGGGTTCTTTTTTTTTTC	0.448																																					p.K593R		.											.,10	.	150	1	Deletion - Frameshift(1)	ovary(1)	c.A1778G						.						62	63	63					3																	41860985		1844	4089	5933	SO:0001583	missense	54986	exon19			GGGTTCTTTTTTT	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.1778A>G	3.37:g.41860985T>C	ENSP00000301831:p.Lys593Arg	59	1		32	3	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582654	0.28180	.	.	ENSG00000168038	ENST00000301831	T	0.64618	-0.11	5.16	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (2);	1.026200	0.07781	U	0.953336	T	0.45418	0.1341	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.16335	-1.0406	10	0.23302	T	0.38	.	10.5744	0.45219	0.0:0.0761:0.0:0.9239	.	593;593	B4E2M4;Q96C45	.;ULK4_HUMAN	R	593	ENSP00000301831:K593R	ENSP00000301831:K593R	K	-	2	0	ULK4	41835989	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.530000	0.36007	2.070000	0.61991	0.528000	0.53228	AAG	.		0.448	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41860985	T	C	41860985	3	2	8	1	0	0	0	0	1	0	0	0	17027	1609	56	4	2125	4	ULK4	3	41860985	Missense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	20398226	41860985	156161445	31	1124											
KIF9	64147	hgsc.bcm.edu	37	3	47284677	47284677	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:47284677C>T	ENST00000265529.3	-	17	2253	c.1573G>A	c.(1573-1575)Gtt>Att	p.V525I	KIF9_ENST00000444589.2_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.V525I|KIF9_ENST00000452770.2_Missense_Mutation_p.V525I|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	525					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)	p.V525I(1)		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)		GAGGTGGAAACGTAATCCAAG	0.562																																					p.V525I	Colon(44;962 1147 15977 24541)	.											KIF9,colon,carcinoma,0,1	KIF9	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1573A						.						102	82	88					3																	47284677		2203	4300	6503	SO:0001583	missense	64147	exon16			TGGAAACGTAATC	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.1573G>A	3.37:g.47284677C>T	ENSP00000265529:p.Val525Ile	54	0		29	2	NM_182902	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	2.411	-0.335321	0.05278	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000452770	T;T;T	0.43294	0.95;0.95;0.95	5.49	-11.0	0.00169	.	1.478100	0.03515	N	0.220081	T	0.20740	0.0499	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05750	-1.0866	10	0.22706	T	0.39	.	4.4683	0.11700	0.2179:0.1431:0.0733:0.5657	.	525	Q9HAQ2	KIF9_HUMAN	I	525	ENSP00000333942:V525I;ENSP00000265529:V525I;ENSP00000391100:V525I	ENSP00000265529:V525I	V	-	1	0	KIF9	47259681	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-4.108000	0.00293	-2.799000	0.00353	-0.291000	0.09656	GTT	.		0.562	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			T	47284677	C	T	47284677	3	4	8	1	0	0	0	0	1	0	0	0	8337	536	19	1	823	1	KIF9	3	47284677	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	5423692	47284677	150737753	32	1125											
COL7A1	1294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	48608557	48608557	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:48608557G>C	ENST00000328333.8	-	93	7248	c.7141C>G	c.(7141-7143)Cct>Gct	p.P2381A	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2349A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2381	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)		GGGCCAGGAGGCCCAGGGGAG	0.632																																					p.P2381A		.											.	.	.	0			c.C7141G						.						34	44	41					3																	48608557		2203	4299	6502	SO:0001583	missense	1294	exon93			CAGGAGGCCCAGG	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.7141C>G	3.37:g.48608557G>C	ENSP00000332371:p.Pro2381Ala	46	0		28	8	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	1.591	-0.529190	0.04112	.	.	ENSG00000114270	ENST00000328333;ENST00000454817;ENST00000422991	D;D;D	0.98633	-3.15;-3.15;-5.04	4.39	1.57	0.23409	.	0.150347	0.30428	N	0.009652	D	0.94634	0.8270	L	0.38692	1.165	0.09310	N	1	B	0.16396	0.017	B	0.22152	0.038	D	0.85055	0.0931	10	0.07644	T	0.81	.	4.9987	0.14253	0.1903:0.0:0.638:0.1717	.	2381	Q02388	CO7A1_HUMAN	A	2381;2349;46	ENSP00000332371:P2381A;ENSP00000412569:P2349A;ENSP00000391608:P46A	ENSP00000332371:P2381A	P	-	1	0	COL7A1	48583561	0.900000	0.30661	0.263000	0.24496	0.004000	0.04260	3.760000	0.55235	0.580000	0.29522	-0.181000	0.13052	CCT	.		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		C	48608557	G	C	48608557	3	2	8	1	0	0	0	0	1	0	0	0	3711	1203	42	5	1797	5	COL7A1	3	48608557	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	1323880	48608557	149413873	33	1126											
FILIP1L	11259	bcgsc.ca	37	3	99568935	99568935	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:99568935G>T	ENST00000354552.3	-	5	2055	c.1585C>A	c.(1585-1587)Caa>Aaa	p.Q529K	FILIP1L_ENST00000487087.1_Missense_Mutation_p.Q105K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.Q289K|FILIP1L_ENST00000331335.5_Missense_Mutation_p.Q529K|FILIP1L_ENST00000471562.1_Missense_Mutation_p.Q289K|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	529						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ACTTTATTTTGCTCCACTTGA	0.348																																					p.Q529K													.	FILIP1L	154	0			c.C1585A						.						84	71	75					3																	99568935		1823	4084	5907	SO:0001583	missense	11259	exon5			TATTTTGCTCCAC		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1585C>A	3.37:g.99568935G>T	ENSP00000346560:p.Gln529Lys	34	0		21	3	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582080	0.46006	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.41758	0.99;1.72;1.69;0.99;1.69;1.69	5.87	4.97	0.65823	.	0.000000	0.50627	D	0.000107	T	0.34687	0.0906	L	0.53780	1.695	0.47276	D	0.999372	B;B	0.32526	0.374;0.257	B;B	0.33254	0.16;0.077	T	0.15178	-1.0446	10	0.02654	T	1	-8.705	13.0511	0.58954	0.0:0.1233:0.7486:0.1281	.	529;529	Q4L180-2;Q4L180	.;FIL1L_HUMAN	K	529;105;289;529;289;275;289	ENSP00000346560:Q529K;ENSP00000417774:Q105K;ENSP00000419642:Q289K;ENSP00000327880:Q529K;ENSP00000373192:Q289K;ENSP00000419874:Q289K	ENSP00000327880:Q529K	Q	-	1	0	FILIP1L	101051625	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.709000	0.74665	1.436000	0.47453	0.655000	0.94253	CAA	.		0.348	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		T	99568935	G	T	99568935	3	4	8	1	0	0	0	0	1	0	0	0	5917	1328	46	3	1851	3	FILIP1L	3	99568935	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	50960378	99568935	98453495	34	1127											
CD96	10225	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	111261150	111261150	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:111261150G>T	ENST00000283285.5	+	1	186	c.55G>T	c.(55-57)Gtc>Ttc	p.V19F	CD96_ENST00000438817.2_Missense_Mutation_p.V19F|CD96_ENST00000352690.4_Missense_Mutation_p.V19F	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	19					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						GATACATTTTGTCAAGGGTAA	0.438									Opitz Trigonocephaly syndrome																												p.V19F		.											.	.	.	0			c.G55T						.						128	119	122					3																	111261150		2203	4300	6503	SO:0001583	missense	10225	exon1	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	CATTTTGTCAAGG	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.55G>T	3.37:g.111261150G>T	ENSP00000283285:p.Val19Phe	53	0		49	4	NM_005816	Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	3.674	-0.066924	0.07273	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.66995	-0.2;-0.22;-0.24	5.59	-1.98	0.07480	.	0.566504	0.16296	N	0.220674	T	0.36026	0.0952	N	0.11560	0.145	0.09310	N	0.999997	B;B;B;B	0.20261	0.025;0.043;0.025;0.025	B;B;B;B	0.21546	0.016;0.035;0.016;0.016	T	0.11916	-1.0568	10	0.25106	T	0.35	-0.9839	1.4935	0.02461	0.3553:0.1299:0.3742:0.1407	.	19;19;19;19	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	F	19	ENSP00000342040:V19F;ENSP00000283285:V19F;ENSP00000389801:V19F	ENSP00000283285:V19F	V	+	1	0	CD96	112743840	0.461000	0.25783	0.260000	0.24451	0.165000	0.22458	-0.254000	0.08781	-0.419000	0.07439	-0.423000	0.05987	GTC	.		0.438	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			T	111261150	G	T	111261150	3	4	8	1	0	0	0	0	1	0	0	0	3055	1377	48	3	57	3	CD96	3	111261150	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	11692215	111261150	86761280	35	1128											
C3orf52	79669	hgsc.bcm.edu	37	3	111835806	111835806	+	3'UTR	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:111835806C>A	ENST00000264848.5	+	0	1026				C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000467942.2_Intron|C3orf52_ENST00000431717.2_Missense_Mutation_p.F238L	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						tgttttgtttcgttttgtttt	0.517																																					p.F238L		.											C3orf52_ENST00000431717,NS,carcinoma,0,1	C3orf52_ENST00000431717	0	0			c.C714A						.						16	20	19					3																	111835806		692	1591	2283	SO:0001624	3_prime_UTR_variant	79669	exon4			TTGTTTCGTTTTG	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.*313C>A	3.37:g.111835806C>A		33	0		17	2	NM_001171747	B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Missense_Mutation	SNP	ENST00000264848.5	37	CCDS46887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.067|2.067	-0.414024|-0.414024	0.04799|0.04799	.|.	.|.	ENSG00000114529|ENSG00000114529	ENST00000431717|ENST00000484828	T|.	0.34667|.	1.35|.	0.714|0.714	-0.8|-0.8	0.10897|0.10897	.|.	.|.	.|.	.|.	.|.	T|T	0.10508|0.10508	0.0257|0.0257	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|.	0.44659|.	0.84|.	B|.	0.36719|.	0.231|.	T|T	0.21895|0.21895	-1.0232|-1.0232	8|4	0.87932|.	D|.	0|.	.|.	.|.	.|.	.|.	.|.	238|.	Q5BVD1-3|.	.|.	L|S	238|229	ENSP00000399392:F238L|.	ENSP00000399392:F238L|.	F|R	+|+	3|1	2|0	C3orf52|C3orf52	113318496|113318496	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.007000|0.007000	0.05969|0.05969	-5.306000|-5.306000	0.00133|0.00133	-1.879000|-1.879000	0.01126|0.01126	-2.843000|-2.843000	0.00104|0.00104	TTC|CGT	.		0.517	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		A	111835806	C	A	111835806	1	1	8	0	1	0	0	0	0	0	0	0	2239	883	31	2		2	C3orf52	3	111835806	3'UTR	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	574656	111835806	86186624	36	1129											
UROC1	131669	broad.mit.edu	37	3	126208213	126208213	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:126208213C>T	ENST00000290868.2	-	17	1667	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	UROC1_ENST00000383579.3_Silent_p.P598P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	538					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCAGGACCACCGGCGCCTGTG	0.597																																					p.P598P													.	UROC1	150	0			c.G1794A						.						105	93	97					3																	126208213		2203	4300	6503	SO:0001819	synonymous_variant	131669	exon18			GACCACCGGCGCC	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1614G>A	3.37:g.126208213C>T		27	0		13	3	NM_001165974	E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	CCDS3038.1																																																																																			.		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		T	126208213	C	T	126208213	2	4	8	1	0	0	0	0	0	0	0	1	17077	639	23	1		1	UROC1	3	126208213	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	14372407	126208213	71814217	37	1130											
TSC22D2	9819	hgsc.bcm.edu	37	3	150176395	150176395	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr3:150176395C>A	ENST00000361875.3	+	4	3331	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P748Q	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	772					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)			ACGCAACCTCCACAGCAGCCG	0.473																																					p.P772Q		.											TSC22D2,NS,malignant_melanoma,0,1	TSC22D2	0	0			c.C2315A						.						75	76	76					3																	150176395		2203	4300	6503	SO:0001583	missense	9819	exon4			AACCTCCACAGCA	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.2315C>A	3.37:g.150176395C>A	ENSP00000354543:p.Pro772Gln	40	0		36	2	NM_014779	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994541	0.35226	.	.	ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136	T;T	0.28454	1.61;1.61	5.2	5.2	0.72013	.	0.404293	0.20321	N	0.094622	T	0.25568	0.0622	N	0.24115	0.695	0.33192	D	0.550969	B;B	0.24823	0.112;0.068	B;B	0.21151	0.033;0.015	T	0.25572	-1.0128	10	0.54805	T	0.06	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	748;772	O75157-2;O75157	.;T22D2_HUMAN	Q	221;772;748	ENSP00000354543:P772Q;ENSP00000354893:P748Q	ENSP00000354893:P748Q	P	+	2	0	TSC22D2	151659085	0.999000	0.42202	0.989000	0.46669	0.946000	0.59487	2.834000	0.48167	2.591000	0.87537	0.655000	0.94253	CCA	.		0.473	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150176395	C	A	150176395	3	1	8	1	0	0	0	0	1	0	0	0	16656	594	21	3	2329	3	TSC22D2	3	150176395	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	23968182	150176395	47846035	38	1131											
SLAIN2	57606	hgsc.bcm.edu;bcgsc.ca	37	4	48385777	48385777	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr4:48385777C>A	ENST00000264313.6	+	6	1754	c.1336C>A	c.(1336-1338)Cgt>Agt	p.R446S	SLAIN2_ENST00000512093.1_Missense_Mutation_p.R253S	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	446					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						AGGAATACCTCGTATGCAACC	0.383																																					p.R446S		.											.	.	.	0			c.C1336A						.						67	66	66					4																	48385777		1880	4107	5987	SO:0001583	missense	57606	exon6			ATACCTCGTATGC	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.1336C>A	4.37:g.48385777C>A	ENSP00000264313:p.Arg446Ser	60	0		59	4	NM_020846	A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.022783|5.022783	0.93462|0.93462	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000264313;ENST00000512093|ENST00000510595	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.113705|.	0.64402|.	D|.	0.000008|.	T|.	0.78748|.	0.4332|.	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;D|.	0.57571|.	0.632;0.98|.	B;P|.	0.53861|.	0.278;0.736|.	T|.	0.78163|.	-0.2311|.	9|.	0.37606|.	T|.	0.19|.	-6.9554|-6.9554	19.7895|19.7895	0.96452|0.96452	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116;446|.	Q9H705;Q9P270|.	.;SLAI2_HUMAN|.	S|X	446;253|28	.|.	ENSP00000264313:R446S|.	R|S	+|+	1|2	0|0	SLAIN2|SLAIN2	48080534|48080534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.966000|6.966000	0.76073|0.76073	2.675000|2.675000	0.91044|0.91044	0.561000|0.561000	0.74099|0.74099	CGT|TCG	.		0.383	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		A	48385777	C	A	48385777	3	1	8	1	0	0	0	0	1	0	0	0	14411	884	31	2	1358	2	SLAIN2	4	48385777	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		48385777	142768499	39	1132											
C4orf29	80167	hgsc.bcm.edu	37	4	128904141	128904141	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr4:128904141C>T	ENST00000444616.1	+	2	278	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	C4orf29_ENST00000388795.5_5'UTR|C4orf29_ENST00000398965.1_Missense_Mutation_p.R11W			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	11						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TATTCTATACCGGAGACTTCT	0.333																																					p.R11W		.											C4orf29_ENST00000398965,NS,carcinoma,0,2	C4orf29_ENST00000398965	0	0			c.C31T						.						61	54	56					4																	128904141		1801	4059	5860	SO:0001583	missense	80167	exon2			CTATACCGGAGAC	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.31C>T	4.37:g.128904141C>T	ENSP00000397229:p.Arg11Trp	57	1		42	2	NM_001039717	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37		.	.	.	.	.	.	.	.	.	.	C	18.71	3.682644	0.68157	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000513371	.	.	.	5.42	5.42	0.78866	.	0.144833	0.43579	D	0.000549	T	0.76564	0.4005	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78700	-0.2102	9	0.87932	D	0	-16.7588	11.662	0.51352	0.2848:0.7152:0.0:0.0	.	11	Q0P651	CD029_HUMAN	W	11	.	ENSP00000381937:R11W	R	+	1	2	C4orf29	129123591	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.219000	0.32479	2.552000	0.86080	0.462000	0.41574	CGG	.		0.333	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		T	128904141	C	T	128904141	3	4	8	1	0	0	0	0	1	0	0	0	2266	643	23	1	33	1	C4orf29	4	128904141	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	80518364	128904141	62250135	40	1133											
STOX2	56977	bcgsc.ca	37	4	184931278	184931278	+	Silent	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr4:184931278G>T	ENST00000308497.4	+	3	2722	c.1287G>T	c.(1285-1287)gtG>gtT	p.V429V	STOX2_ENST00000438269.1_Silent_p.V429V	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	429					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ACACAAACGTgctcgagtccc	0.483																																					p.V429V													.	STOX2	142	0			c.G1287T						.						51	53	52					4																	184931278		2039	4197	6236	SO:0001819	synonymous_variant	56977	exon3			AAACGTGCTCGAG	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1287G>T	4.37:g.184931278G>T		52	0		19	3	NM_020225	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	CCDS47167.1																																																																																			.		0.483	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		T	184931278	G	T	184931278	2	4	8	1	0	0	0	0	0	0	0	1	15367	1306	46	3		3	STOX2	4	184931278	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	56027137	184931278	6222998	41	1134											
GPBP1	65056	hgsc.bcm.edu;broad.mit.edu	37	5	56557038	56557038	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:56557038A>G	ENST00000506184.2	+	11	2297	c.1192A>G	c.(1192-1194)Agt>Ggt	p.S398G	GPBP1_ENST00000514387.2_Missense_Mutation_p.S227G|GPBP1_ENST00000511209.1_Missense_Mutation_p.S390G|GPBP1_ENST00000454432.2_Missense_Mutation_p.S418G|GPBP1_ENST00000538707.1_Missense_Mutation_p.S405G|GPBP1_ENST00000264779.6_Missense_Mutation_p.S405G|GPBP1_ENST00000424459.3_Missense_Mutation_p.S418G			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	398					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCAGGAAGACAGTGAAAATGA	0.363																																					p.S405G		.											.	.	.	0			c.A1213G						.						156	158	157					5																	56557038		2203	4299	6502	SO:0001583	missense	65056	exon10			GAAGACAGTGAAA		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1192A>G	5.37:g.56557038A>G	ENSP00000421202:p.Ser398Gly	87	0		94	4	NM_001127236	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741204	0.49151	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.81	3.45	0.39498	.	0.245382	0.48767	D	0.000169	T	0.29524	0.0736	N	0.21448	0.665	0.33001	D	0.526215	B;B;B;B	0.12013	0.005;0.001;0.0;0.0	B;B;B;B	0.14578	0.011;0.004;0.003;0.004	T	0.31194	-0.9952	10	0.15499	T	0.54	-19.6388	9.6177	0.39701	0.8592:0.0:0.1408:0.0	.	418;405;390;398	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	G	418;227;398;418;390;405;405	ENSP00000401596:S418G;ENSP00000421709:S227G;ENSP00000421202:S398G;ENSP00000403522:S418G;ENSP00000422337:S390G;ENSP00000264779:S405G;ENSP00000440090:S405G	ENSP00000264779:S405G	S	+	1	0	GPBP1	56592795	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.143000	0.58051	1.019000	0.39547	0.533000	0.62120	AGT	.		0.363	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		G	56557038	A	G	56557038	3	3	8	1	0	0	0	0	1	0	0	0	6621	188	7	4	1251	4	GPBP1	5	56557038	Missense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09		56557038	124358222	42	1135											
NAIP	4671	hgsc.bcm.edu	37	5	70299665	70299666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:70299665_70299666insA	ENST00000517649.1	-	6	977_978	c.687_688insT	c.(685-690)agtaagfs	p.K230fs	NAIP_ENST00000523981.1_Frame_Shift_Ins_p.K68fs|NAIP_ENST00000508426.2_Frame_Shift_Ins_p.K230fs|NAIP_ENST00000503719.2_Frame_Shift_Ins_p.K68fs|NAIP_ENST00000194097.4_Frame_Shift_Ins_p.K230fs	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	230					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)		GAGGATTTCTTACTCCGAAGAA	0.312																																					p.K230_K231delinsX		.											.	.	.	0			c.688_689insT						.																																			SO:0001589	frameshift_variant	4671	exon6			ATTTCTTACTCCG	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.688dupT	5.37:g.70299666_70299666dupA	ENSP00000428657:p.Lys230fs	465	0		520	41	NM_004536	B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Frame_Shift_Ins	INS	ENST00000517649.1	37	CCDS4009.1																																																																																			.		0.312	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		A	70299666	-	A	70299665	7	5	8	1	0	1	1	0	0	0	0	0	10185	1763	61	0	3571	0	NAIP	5	70299665	Frame_Shift_Ins	INS	-	TCGA-W5-AA2G-01A-11D-A417-09	13742627	70299665	110615595	43	1136											
EFNA5	1946	hgsc.bcm.edu	37	5	106762982	106762982	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:106762982G>T	ENST00000333274.6	-	2	635	c.354C>A	c.(352-354)ttC>ttA	p.F118L	EFNA5_ENST00000509503.1_Missense_Mutation_p.F118L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	118	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TGAAGAGCTGGAATTTTTCAG	0.463																																					p.F118L		.											.	.	.	0			c.C354A						.						67	68	68					5																	106762982		2202	4300	6502	SO:0001583	missense	1946	exon2			GAGCTGGAATTTT	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.354C>A	5.37:g.106762982G>T	ENSP00000328777:p.Phe118Leu	80	0		67	3	NM_001962		Missense_Mutation	SNP	ENST00000333274.6	37	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213334	0.79352	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	T;T	0.58940	0.3;0.3	6.17	6.17	0.99709	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	T	0.82460	-0.0446	10	0.62326	D	0.03	-15.634	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	118;118	D6RDV5;P52803	.;EFNA5_HUMAN	L	118	ENSP00000328777:F118L;ENSP00000426989:F118L	ENSP00000328777:F118L	F	-	3	2	EFNA5	106790881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.795000	0.75140	2.941000	0.99782	0.655000	0.94253	TTC	.		0.463	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		T	106762982	G	T	106762982	3	4	8	1	0	0	0	0	1	0	0	0	4968	1165	41	3	348	3	EFNA5	5	106762982	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	36463317	106762982	74152278	44	1137											
PFDN1	5201	hgsc.bcm.edu	37	5	139680104	139680104	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:139680104G>T	ENST00000261813.4	-	2	144	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	PFDN1_ENST00000514611.1_5'UTR|PFDN1_ENST00000524074.1_Missense_Mutation_p.Q33K|PFDN1_ENST00000510217.1_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	33					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCAATCTGTATGTCTGCG	0.388																																					p.Q33K		.											.	.	.	0			c.C97A						.						245	200	215					5																	139680104		2203	4300	6503	SO:0001583	missense	5201	exon2			CAATCTGTATGTC	Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"prefoldin 1"			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.97C>A	5.37:g.139680104G>T	ENSP00000261813:p.Gln33Lys	70	0		56	4	NM_002622	B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	ENST00000261813.4	37	CCDS4222.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979685	0.74360	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.45276	0.9;0.9	5.84	5.84	0.93424	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.69823	2.125	0.80722	D	1	P	0.42123	0.771	P	0.45428	0.48	T	0.49173	-0.8967	10	0.37606	T	0.19	-7.5902	20.1438	0.98071	0.0:0.0:1.0:0.0	.	33	O60925	PFD1_HUMAN	K	33	ENSP00000261813:Q33K;ENSP00000428707:Q33K	ENSP00000261813:Q33K	Q	-	1	0	PFDN1	139660288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.236000	0.95360	2.768000	0.95171	0.650000	0.86243	CAG	.		0.388	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	NM_002622		T	139680104	G	T	139680104	3	4	8	1	0	0	0	0	1	0	0	0	11794	1386	48	3	283	3	PFDN1	5	139680104	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	32917122	139680104	41235156	45	1138											
WDR55	54853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140048015	140048015	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:140048015C>T	ENST00000358337.5	+	3	545	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	103					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)			ATTACTGTCTCCAAGGACAAA	0.527																																					p.S103F		.											.	.	.	0			c.C308T						.						198	182	187					5																	140048015		2203	4300	6503	SO:0001583	missense	54853	exon3			CTGTCTCCAAGGA	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.308C>T	5.37:g.140048015C>T	ENSP00000351100:p.Ser103Phe	60	0		44	8	NM_017706	Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292964	0.40594	.	.	ENSG00000120314	ENST00000358337	T	0.74526	-0.85	4.98	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.90363	0.6984	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93101	0.6508	10	0.87932	D	0	-13.9723	17.1868	0.86868	0.0:1.0:0.0:0.0	.	103	Q9H6Y2	WDR55_HUMAN	F	103	ENSP00000351100:S103F	ENSP00000351100:S103F	S	+	2	0	WDR55	140028199	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.338000	0.65947	2.580000	0.87095	0.467000	0.42956	TCC	.		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		T	140048015	C	T	140048015	3	4	8	1	0	0	0	0	1	0	0	0	17356	855	30	3	318	3	WDR55	5	140048015	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	367911	140048015	40867245	46	1139											
PCDHAC2	56134	hgsc.bcm.edu;broad.mit.edu	37	5	140347642	140347642	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:140347642C>T	ENST00000289269.5	+	1	1823	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	431	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(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)			GGACCGAGAGCGGGTGGCTGT	0.562																																					p.R431W	Melanoma(190;638 2083 3390 11909 52360)	.											PCDHAC2,caecum,carcinoma,0,1	PCDHAC2	0	0			c.C1291T						.						86	90	88					5																	140347642		2203	4300	6503	SO:0001583	missense	56134	exon1			CGAGAGCGGGTGG	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.1291C>T	5.37:g.140347642C>T	ENSP00000289269:p.Arg431Trp	22	0		23	3	NM_031883	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795443	0.50208	.	.	ENSG00000243232	ENST00000289269	T	0.52983	0.64	5.79	2.72	0.32119	Cadherin (4);Cadherin-like (1);	0.000000	0.38164	N	0.001788	T	0.65165	0.2665	M	0.75884	2.315	0.34555	D	0.711778	D;D	0.76494	0.999;0.999	D;D	0.67103	0.949;0.94	T	0.78360	-0.2234	10	0.72032	D	0.01	.	13.5873	0.61940	0.5084:0.4916:0.0:0.0	.	431;431	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	W	431	ENSP00000289269:R431W	ENSP00000289269:R431W	R	+	1	2	PCDHAC2	140327826	0.109000	0.22037	0.833000	0.33012	0.951000	0.60555	0.866000	0.27954	1.420000	0.47138	0.563000	0.77884	CGG	.		0.562	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		T	140347642	C	T	140347642	3	4	8	1	0	0	0	0	1	0	0	0	11572	759	27	1	1293	1	PCDHAC2	5	140347642	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	299627	140347642	40567618	47	1140											
LARP1	23367	broad.mit.edu	37	5	154190824	154190824	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:154190824T>C	ENST00000336314.4	+	17	2654	c.2630T>C	c.(2629-2631)cTt>cCt	p.L877P		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	954					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)			TTGGAGTGCCTTTTTCGATAC	0.433																																					p.L877P													.	LARP1	187	0			c.T2630C						.						114	107	109					5																	154190824		2203	4300	6503	SO:0001583	missense	23367	exon17			AGTGCCTTTTTCG	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.2630T>C	5.37:g.154190824T>C	ENSP00000336721:p.Leu877Pro	56	0		55	3	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813757	0.90790	.	.	ENSG00000155506	ENST00000336314	T	0.63580	-0.05	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87349	0.2336	10	0.87932	D	0	-16.1477	16.5763	0.84648	0.0:0.0:0.0:1.0	.	954;877	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	P	877	ENSP00000336721:L877P	ENSP00000336721:L877P	L	+	2	0	LARP1	154171017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	2.317000	0.78254	0.459000	0.35465	CTT	.		0.433	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		C	154190824	T	C	154190824	3	2	8	1	0	0	0	0	1	0	0	0	8656	1609	56	4	2696	4	LARP1	5	154190824	Missense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	13843182	154190824	26724436	48	1141											
GABRP	2568	hgsc.bcm.edu	37	5	170222402	170222402	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr5:170222402C>A	ENST00000518525.1	+	6	895	c.431C>A	c.(430-432)tCc>tAc	p.S144Y	GABRP_ENST00000519385.1_Missense_Mutation_p.S144Y|GABRP_ENST00000265294.4_Missense_Mutation_p.S144Y|GABRP_ENST00000519598.1_Missense_Mutation_p.S144Y			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	144					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)	p.S144F(1)		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)	CGCCTCTTCTCCAATGGCACG	0.557																																					p.S144Y		.											GABRP,trunk,malignant_melanoma,0,1	GABRP	0	1	Substitution - Missense(1)	skin(1)	c.C431A						.						92	83	86					5																	170222402		2203	4300	6503	SO:0001583	missense	2568	exon5			TCTTCTCCAATGG	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.431C>A	5.37:g.170222402C>A	ENSP00000430100:p.Ser144Tyr	38	0		31	2	NM_014211	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191658	0.78902	.	.	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.138574	0.64402	D	0.000003	D	0.86920	0.6049	M	0.62154	1.92	0.53688	D	0.999978	D;D	0.76494	0.996;0.999	D;D	0.71870	0.948;0.975	D	0.86750	0.1960	10	0.59425	D	0.04	.	19.5561	0.95349	0.0:1.0:0.0:0.0	.	144;144	E7EWG0;O00591	.;GBRP_HUMAN	Y	144;144;144;42;144;144;144	ENSP00000428804:S144Y;ENSP00000430188:S144Y;ENSP00000430100:S144Y;ENSP00000265294:S144Y;ENSP00000430727:S144Y;ENSP00000430772:S144Y	ENSP00000265294:S144Y	S	+	2	0	GABRP	170154980	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.212000	0.51145	2.784000	0.95788	0.643000	0.83706	TCC	.		0.557	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		A	170222402	C	A	170222402	3	1	8	1	0	0	0	0	1	0	0	0	6198	855	30	3	445	3	GABRP	5	170222402	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	16031578	170222402	10692858	49	1142											
HIST1H4I	8294	hgsc.bcm.edu	37	6	27107240	27107240	+	Silent	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:27107240C>A	ENST00000354348.2	+	1	165	c.153C>A	c.(151-153)atC>atA	p.I51I	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	51					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						CTGGCCTCATCTATGAGGAGA	0.637			T	BCL6	NHL																																p.I51I		.		Dom	yes		6	6p21.3	8294	"histone 1, H4i (H4FM)"		L	HIST1H4I_ENST00000354348,NS,lymphoid_neoplasm,0,2	HIST1H4I_ENST00000354348	0	0			c.C153A						.						67	67	67					6																	27107240		2203	4300	6503	SO:0001819	synonymous_variant	8294	exon1			CCTCATCTATGAG	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.153C>A	6.37:g.27107240C>A		60	0		37	2	NM_003495	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000354348.2	37	CCDS4620.1																																																																																			.		0.637	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495		A	27107240	C	A	27107240	2	1	8	1	0	0	0	0	0	0	0	1	7200	903	32	3		3	HIST1H4I	6	27107240	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		27107240	144007827	50	1143											
PGBD1	84547	hgsc.bcm.edu	37	6	28251740	28251740	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:28251740C>A	ENST00000405948.2	+	2	570	c.150C>A	c.(148-150)ttC>ttA	p.F50L	PGBD1_ENST00000259883.3_Missense_Mutation_p.F50L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	50	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.					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						TTCGGCACTTCTGCTACCAGG	0.567																																					p.F50L		.											PGBD1,right_lower_lobe,carcinoma,0,1	PGBD1	0	0			c.C150A						.						76	75	75					6																	28251740		2203	4300	6503	SO:0001583	missense	84547	exon2			GCACTTCTGCTAC	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.150C>A	6.37:g.28251740C>A	ENSP00000385213:p.Phe50Leu	27	0		13	2	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432465	0.43224	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.05199	3.48;3.48	4.65	2.88	0.33553	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02047	0.0064	L	0.52206	1.635	0.25430	N	0.988197	B	0.18310	0.027	B	0.24006	0.05	T	0.45498	-0.9257	9	0.15499	T	0.54	1.5749	8.6373	0.33957	0.0:0.7472:0.0:0.2528	.	50	Q96JS3	PGBD1_HUMAN	L	50	ENSP00000385213:F50L;ENSP00000259883:F50L	ENSP00000259883:F50L	F	+	3	2	PGBD1	28359719	0.627000	0.27129	0.751000	0.31187	0.757000	0.42996	0.226000	0.17776	0.885000	0.36088	0.655000	0.94253	TTC	.		0.567	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			A	28251740	C	A	28251740	3	1	8	1	0	0	0	0	1	0	0	0	11819	912	32	3	152	3	PGBD1	6	28251740	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	1144500	28251740	142863327	51	1144											
TRIM39	56658	hgsc.bcm.edu	37	6	30297399	30297399	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:30297399G>T	ENST00000396547.1	+	2	465	c.305G>T	c.(304-306)cGg>cTg	p.R102L	TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R14L|TRIM39_ENST00000540416.1_Missense_Mutation_p.R102L|HCG18_ENST00000412685.2_RNA|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000396551.3_Missense_Mutation_p.R102L|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376656.4_Missense_Mutation_p.R102L|TRIM39_ENST00000376659.5_Missense_Mutation_p.R102L|TRIM39_ENST00000396548.1_Missense_Mutation_p.R102L			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	102					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)	p.R102Q(1)		ovary(3)	3						CGGAAGATCCGGGATGAGAGC	0.552																																					p.R102L		.											TRIM39_ENST00000376656,colon,carcinoma,+1,1	TRIM39_ENST00000376656	+1	1	Substitution - Missense(1)	large_intestine(1)	c.G305T						.						53	51	52					6																	30297399		1510	2707	4217	SO:0001583	missense	56658	exon3			AGATCCGGGATGA	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.305G>T	6.37:g.30297399G>T	ENSP00000379796:p.Arg102Leu	36	1		30	3	NM_172016	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.06|18.06	3.538913|3.538913	0.65085|0.65085	.|.	.|.	ENSG00000204599|ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000420746|ENST00000458516;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	.|T;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;0.58	5.23|5.23	2.41|2.41	0.29592|0.29592	.|Zinc finger, B-box (2);	.|0.000000	.|0.43260	.|D	.|0.000582	T|T	0.16938|0.16938	0.0407|0.0407	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;P;B	.|0.36199	.|0.002;0.543;0.44	.|B;P;B	.|0.46208	.|0.002;0.507;0.085	T|T	0.13255|0.13255	-1.0516|-1.0516	5|10	.|0.25106	.|T	.|0.35	.|.	4.9614|4.9614	0.14068|0.14068	0.178:0.0:0.6539:0.1681|0.178:0.0:0.6539:0.1681	.|.	.|16;102;102	.|F5H2V3;Q9HCM9;Q9HCM9-2	.|.;TRI39_HUMAN;.	W|L	32|102;102;102;102;102;102;16;102;102;102;102;14	.|ENSP00000405928:R102L;ENSP00000379800:R102L;ENSP00000365844:R102L;ENSP00000439400:R102L;ENSP00000406019:R102L;ENSP00000379797:R102L;ENSP00000365847:R102L;ENSP00000379796:R102L;ENSP00000424048:R14L	.|ENSP00000365844:R102L	G|R	+|+	1|2	0|0	TRIM39|TRIM39-RPP21;TRIM39	30405378|30405378	1.000000|1.000000	0.71417|0.71417	0.727000|0.727000	0.30756|0.30756	0.930000|0.930000	0.56654|0.56654	1.887000|1.887000	0.39698|0.39698	0.768000|0.768000	0.33290|0.33290	0.555000|0.555000	0.69702|0.69702	GGG|CGG	.		0.552	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		T	30297399	G	T	30297399	3	4	8	1	0	0	0	0	1	0	0	0	16561	1116	39	2	307	2	TRIM39	6	30297399	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	2045659	30297399	140817668	52	1145											
DHX16	8449	bcgsc.ca	37	6	30638651	30638651	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:30638651C>T	ENST00000376442.3	-	3	720	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	175					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CACGCTCCTCCAGGTCCTGAA	0.567																																					p.L175L													.	DHX16	119	0			c.G525A						.						151	110	124					6																	30638651		1511	2709	4220	SO:0001819	synonymous_variant	8449	exon3			CTCCTCCAGGTCC	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.525G>A	6.37:g.30638651C>T		27	0		22	3	NM_003587	O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	CCDS4685.1																																																																																			.		0.567	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		T	30638651	C	T	30638651	2	4	8	1	0	0	0	0	0	0	0	1	4516	581	21	3		3	DHX16	6	30638651	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	341252	30638651	140476416	53	1146											
HLA-B	3106	hgsc.bcm.edu	37	6	31323974	31323974	+	Missense_Mutation	SNP	C	C	T	rs41545114		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:31323974C>T	ENST00000412585.2	-	3	617	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	197	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						TTCCCGTTCTCCAGGTATCTG	0.672									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.E197K		.											.	.	.	0			c.G589A						.						19	19	19					6																	31323974		2128	4141	6269	SO:0001583	missense	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	CGTTCTCCAGGTA	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.589G>A	6.37:g.31323974C>T	ENSP00000399168:p.Glu197Lys	37	0		37	7	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	12.16	1.853263	0.32699	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.00864	5.6;5.6	3.18	1.3	0.21679	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.866418	0.09417	U	0.805050	T	0.03305	0.0096	H	0.95260	3.645	0.28841	N	0.896629	D;P	0.64830	0.994;0.632	D;B	0.75020	0.985;0.417	T	0.12016	-1.0564	10	0.72032	D	0.01	.	7.4791	0.27393	0.0:0.7684:0.0:0.2316	rs41545114	197;197	P30480;P01889	1B42_HUMAN;1B07_HUMAN	K	197;76;76;208	ENSP00000399168:E197K;ENSP00000405931:E208K	ENSP00000399168:E197K	E	-	1	0	HLA-B	31431953	0.086000	0.21541	0.525000	0.27900	0.024000	0.10985	0.314000	0.19432	0.183000	0.20059	0.297000	0.19635	GAG	0.001		0.672	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31323974	C	T	31323974	3	4	8	1	0	0	0	0	1	0	0	0	7223	864	30	3	519	3	HLA-B	6	31323974	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	685323	31323974	139791093	54	1147											
DNAH8	1769	broad.mit.edu	37	6	38890868	38890868	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:38890868A>G	ENST00000359357.3	+	70	10300	c.10046A>G	c.(10045-10047)aAg>aGg	p.K3349R	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.K3313R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.K3566R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3349					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						TGCCGGAAAAAGATGCAGGCC	0.433																																					p.K3566R													.	DNAH8	1239	0			c.A10697G						.						57	59	59					6																	38890868		2203	4300	6503	SO:0001583	missense	1769	exon72			GGAAAAAGATGCA	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.10046A>G	6.37:g.38890868A>G	ENSP00000352312:p.Lys3349Arg	77	1		66	3	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	22.6	4.308244	0.81247	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.74209	-0.82;-0.82;-0.82	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	M	0.69248	2.105	0.58432	D	0.999999	P	0.41848	0.763	P	0.48571	0.582	T	0.70901	-0.4746	10	0.27785	T	0.31	.	15.5898	0.76517	1.0:0.0:0.0:0.0	.	3349	Q96JB1	DYH8_HUMAN	R	3554;3554;3349;3313	ENSP00000333363:K3554R;ENSP00000352312:K3349R;ENSP00000402294:K3313R	ENSP00000333363:K3554R	K	+	2	0	DNAH8	38998846	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	9.243000	0.95416	2.136000	0.66102	0.533000	0.62120	AAG	.		0.433	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38890868	A	G	38890868	3	3	8	1	0	0	0	0	1	0	0	0	4621	72	3	4	10316	4	DNAH8	6	38890868	Missense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	7566894	38890868	132224199	55	1148											
HSP90AB1	3326	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	44221323	44221323	+	Silent	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:44221323A>G	ENST00000371554.1	+	12	2377	c.2163A>G	c.(2161-2163)gaA>gaG	p.E721E	HSP90AB1_ENST00000353801.3_Silent_p.E721E|HSP90AB1_ENST00000371646.5_Silent_p.E721E|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	721					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)			CTCGCATGGAAGAAGTCGATT	0.542											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E721E		.											.	.	.	0			c.A2163G						.						70	73	72					6																	44221323		2203	4300	6503	SO:0001819	synonymous_variant	3326	exon12			CATGGAAGAAGTC	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.2163A>G	6.37:g.44221323A>G		73	0	922	43	4	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	CCDS4909.1																																																																																			.		0.542	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		G	44221323	A	G	44221323	2	3	8	1	0	0	0	0	0	0	0	1	7429	69	3	4		4	HSP90AB1	6	44221323	Silent	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	5330455	44221323	126893744	56	1149											
LRRC1	55227	hgsc.bcm.edu	37	6	53764614	53764614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:53764614G>T	ENST00000370888.1	+	8	989	c.712G>T	c.(712-714)Gaa>Taa	p.E238*		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	238						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ACTTCCTGAAGAAATCAGTGG	0.388																																					p.E238X		.											LRRC1,NS,carcinoma,0,4	LRRC1	0	0			c.G712T						.						126	116	119					6																	53764614		1857	4086	5943	SO:0001587	stop_gained	55227	exon8			CCTGAAGAAATCA	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.712G>T	6.37:g.53764614G>T	ENSP00000359925:p.Glu238*	136	0		109	4	NM_018214	Q5TGN3|Q9HAC0|Q9NVF1	Nonsense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	39	7.555192	0.98355	.	.	ENSG00000137269	ENST00000370888	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.693	0.91590	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000359925:E238X	E	+	1	0	LRRC1	53872573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.654000	0.90174	0.650000	0.86243	GAA	.		0.388	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		T	53764614	G	T	53764614	4	4	8	1	0	0	0	0	0	1	0	0	9001	943	33	3	742	3	LRRC1	6	53764614	Nonsense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	9543291	53764614	117350453	57	1150											
COL9A1	1297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	70964698	70964698	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:70964698G>A	ENST00000357250.6	-	24	1791	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.R302C|COL9A1_ENST00000320755.7_Missense_Mutation_p.R302C	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	545	Triple-helical region (COL2).				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						ATCCCATCACGGCCATCCACA	0.458																																					p.R545C		.											.	.	.	0			c.C1633T						.						132	116	122					6																	70964698		2203	4300	6503	SO:0001583	missense	1297	exon24			CATCACGGCCATC		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.1633C>T	6.37:g.70964698G>A	ENSP00000349790:p.Arg545Cys	78	0		72	17	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650358	0.67472	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93426	-3.22;-3.22;-3.22	5.38	5.38	0.77491	.	0.051053	0.85682	D	0.000000	D	0.95943	0.8679	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.68765	0.935;0.96;0.861	D	0.95727	0.8771	10	0.59425	D	0.04	.	17.666	0.88203	0.0:0.0:1.0:0.0	.	545;302;118	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	C	545;302;302	ENSP00000349790:R545C;ENSP00000315252:R302C;ENSP00000359530:R302C	ENSP00000315252:R302C	R	-	1	0	COL9A1	71021419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.042000	0.89430	2.680000	0.91292	0.655000	0.94253	CGT	.		0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	70964698	G	A	70964698	3	1	8	1	0	0	0	0	1	0	0	0	3714	1116	39	1	1192	1	COL9A1	6	70964698	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	17200084	70964698	100150369	58	1151											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90575684	90575684	+	RNA	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:90575684C>A	ENST00000551025.1	+	0	4112									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)		GTGTTTTTACCAAATTCAGCT	0.279																																					p.P892Q	Colon(187;1656 2025 17045 31481 39901)	.											.	.	.	0			c.C2675A						.																																					9994	exon8			TTTTACCAAATTC	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.90575684C>A		66	0		77	4	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																				.		0.279	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		A	90575684	C	A	90575684	1	1	8	0	1	0	0	0	0	0	0	0	2685	594	21	3		3	CASP8AP2	6	90575684	RNA	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	19610986	90575684	80539383	59	1152											
RTN4IP1	84816	hgsc.bcm.edu	37	6	107076815	107076815	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:107076815G>T	ENST00000369063.3	-	1	547	c.82C>A	c.(82-84)Cct>Act	p.P28T	QRSL1_ENST00000369046.4_5'Flank|RTN4IP1_ENST00000539449.1_Missense_Mutation_p.P28T|QRSL1_ENST00000369044.1_5'Flank	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	28						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)		CTAACTGAAGGCTTTTGGACA	0.418																																					p.P28T		.											RTN4IP1,neck,malignant_melanoma,0,1	RTN4IP1	0	0			c.C82A						.						108	101	103					6																	107076815		2203	4300	6503	SO:0001583	missense	84816	exon1			CTGAAGGCTTTTG	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.82C>A	6.37:g.107076815G>T	ENSP00000358059:p.Pro28Thr	44	0		44	2	NM_032730	Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341450	0.41498	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.43688	0.94;2.0	5.85	-0.671	0.11381	.	1.019650	0.07750	N	0.948347	T	0.10809	0.0264	L	0.48642	1.525	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.25779	-1.0122	10	0.21014	T	0.42	-0.3595	0.9739	0.01422	0.2341:0.1238:0.3886:0.2535	.	28;28	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	T	28	ENSP00000444261:P28T;ENSP00000358059:P28T	ENSP00000358059:P28T	P	-	1	0	RTN4IP1	107183508	0.015000	0.18098	0.002000	0.10522	0.581000	0.36288	0.934000	0.28910	-0.136000	0.11475	0.655000	0.94253	CCT	.		0.418	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			T	107076815	G	T	107076815	3	4	8	1	0	0	0	0	1	0	0	0	13774	1203	42	3	1144	3	RTN4IP1	6	107076815	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	16501131	107076815	64038252	60	1153											
REV3L	5980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	111636540	111636540	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:111636540T>G	ENST00000358835.3	-	28	8850	c.8396A>C	c.(8395-8397)aAg>aCg	p.K2799T	RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368802.3_Missense_Mutation_p.K2799T|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.K2721T|REV3L_ENST00000368805.1_Missense_Mutation_p.K2799T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2799					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)		CTGACCAATCTTAAAAGACTG	0.333								DNA polymerases (catalytic subunits)																													p.K2799T		.											.	.	.	0			c.A8396C						.						80	72	75					6																	111636540		2203	4300	6503	SO:0001583	missense	5980	exon27			CCAATCTTAAAAG	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.8396A>C	6.37:g.111636540T>G	ENSP00000351697:p.Lys2799Thr	69	0		60	10	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631442	0.67015	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.33	5.33	0.75918	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.124211	0.52532	D	0.000064	T	0.17662	0.0424	L	0.45581	1.43	0.39673	D	0.97078	B	0.33883	0.43	B	0.43990	0.438	T	0.03335	-1.1047	10	0.41790	T	0.15	.	15.2943	0.73891	0.0:0.0:0.0:1.0	.	2799	O60673	DPOLZ_HUMAN	T	2799;2799;2799;2721	ENSP00000357792:K2799T;ENSP00000357795:K2799T;ENSP00000351697:K2799T;ENSP00000402003:K2721T	ENSP00000351697:K2799T	K	-	2	0	REV3L	111743233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.214000	0.58527	2.021000	0.59480	0.528000	0.53228	AAG	.		0.333	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		G	111636540	T	G	111636540	3	3	8	1	0	0	0	0	1	0	0	0	13285	1609	56	4	1020	4	REV3L	6	111636540	Missense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	4559725	111636540	59478527	61	1154											
ROS1	6098	hgsc.bcm.edu	37	6	117715380	117715380	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr6:117715380G>T	ENST00000368508.3	-	10	1307	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	ROS1_ENST00000368507.3_Missense_Mutation_p.S379Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	370			S -> P (in dbSNP:rs56274823). {ECO:0000269|PubMed:17344846}.		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)	p.S370Y(1)	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)		GGAGATAGAAGAAATTAATCC	0.373			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																p.S370Y		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	ROS1_ENST00000368508,caecum,carcinoma,+1,1	ROS1_ENST00000368508	+1	1	Substitution - Missense(1)	ovary(1)	c.C1109A						.						52	55	54					6																	117715380		2202	4300	6502	SO:0001583	missense	6098	exon10			ATAGAAGAAATTA	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.1109C>A	6.37:g.117715380G>T	ENSP00000357494:p.Ser370Tyr	67	0		48	2	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518395	0.44763	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91351	-2.83;-2.83	5.12	5.12	0.69794	.	0.300661	0.29152	N	0.012996	D	0.87358	0.6157	L	0.56769	1.78	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	D	0.85647	0.1280	10	0.34782	T	0.22	.	9.4876	0.38940	0.0795:0.1454:0.775:0.0	.	370	P08922	ROS1_HUMAN	Y	370;379	ENSP00000357494:S370Y;ENSP00000357493:S379Y	ENSP00000357493:S379Y	S	-	2	0	ROS1	117822073	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.843000	0.55865	2.773000	0.95371	0.650000	0.86243	TCT	.		0.373	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117715380	G	T	117715380	3	4	8	1	0	0	0	0	1	0	0	0	13576	942	33	3	6070	3	ROS1	6	117715380	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	6078840	117715380	53399687	62	1155											
FERD3L	222894	hgsc.bcm.edu	37	7	19184746	19184746	+	Silent	SNP	C	C	T	rs34966908|rs199985178|rs71017023	byFrequency	TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:19184746C>T	ENST00000275461.3	-	1	298	c.240G>A	c.(238-240)gaG>gaA	p.E80E	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	80	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E81_R82insE(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ttccgcgctcctcttcctcct	0.622																																					p.E80E		.											.,2	.	63	1	Insertion - In frame(1)	ovary(1)	c.G240A						.						72	54	60					7																	19184746		2203	4300	6503	SO:0001819	synonymous_variant	222894	exon1			GCGCTCCTCTTCC	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.240G>A	7.37:g.19184746C>T		14	0		13	2	NM_152898	Q495K0	Silent	SNP	ENST00000275461.3	37	CCDS5368.1																																																																																			.		0.622	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			T	19184746	C	T	19184746	2	4	8	1	0	0	0	0	0	0	0	1	5838	680	24	3		3	FERD3L	7	19184746	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		19184746	139953917	63	1156											
MLXIPL	51085	hgsc.bcm.edu	37	7	73030462	73030463	+	Frame_Shift_Ins	INS	-	-	T	rs149713253	byFrequency	TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:73030462_73030463insT	ENST00000313375.3	-	2	385_386	c.338_339insA	c.(337-339)aagfs	p.K113fs	MLXIPL_ENST00000395189.1_Frame_Shift_Ins_p.K113fs|MLXIPL_ENST00000429400.2_Frame_Shift_Ins_p.K113fs|MLXIPL_ENST00000354613.1_Frame_Shift_Ins_p.K113fs|MLXIPL_ENST00000414749.2_Frame_Shift_Ins_p.K113fs|MLXIPL_ENST00000434326.1_Frame_Shift_Ins_p.K113fs	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	113					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)				TGCAGAGCAGCTTGAGGCCTTT	0.574																																					p.K113fs		.											.	.	.	0			c.339_340insA						.																																			SO:0001589	frameshift_variant	51085	exon2			GAGCAGCTTGAGG	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.339dupA	7.37:g.73030464_73030464dupT	ENSP00000320886:p.Lys113fs	41	0		53	15	NM_032953	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Frame_Shift_Ins	INS	ENST00000313375.3	37	CCDS5553.1																																																																																			.		0.574	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		T	73030463	-	T	73030462	7	5	8	1	0	1	1	0	0	0	0	0	9675	796	28	0	2283	0	MLXIPL	7	73030462	Frame_Shift_Ins	INS	-	TCGA-W5-AA2G-01A-11D-A417-09	53845716	73030462	86108201	64	1157											
FOXP2	93986	hgsc.bcm.edu	37	7	114329937	114329937	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:114329937G>A	ENST00000393494.2	+	17	2383	c.2104G>A	c.(2104-2106)Gac>Aac	p.D702N	FOXP2_ENST00000403559.4_Missense_Mutation_p.D719N|FOXP2_ENST00000393491.3_Missense_Mutation_p.D517N|FOXP2_ENST00000393498.2_Missense_Mutation_p.D681N|FOXP2_ENST00000408937.3_Missense_Mutation_p.D727N|FOXP2_ENST00000350908.4_Missense_Mutation_p.D702N|FOXP2_ENST00000393489.3_Missense_Mutation_p.D610N			O15409	FOXP2_HUMAN	forkhead box P2	702					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ATTAGAAGACGACAGAGAGAT	0.443																																					p.D727N		.											FOXP2,colon,carcinoma,0,1	FOXP2	0	0			c.G2179A						.						141	129	133					7																	114329937		2203	4300	6503	SO:0001583	missense	93986	exon18			GAAGACGACAGAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.2104G>A	7.37:g.114329937G>A	ENSP00000377132:p.Asp702Asn	48	0		48	2	NM_148898	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471259	0.63625	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92805	-2.81;-2.8;-2.85;-2.81;-2.91;-3.11	5.96	5.96	0.96718	.	0.042776	0.85682	D	0.000000	D	0.87337	0.6152	N	0.25485	0.75	0.80722	D	1	P;P;P;P;P	0.50943	0.94;0.94;0.94;0.94;0.468	B;B;B;B;B	0.37480	0.251;0.251;0.251;0.251;0.128	D	0.88814	0.3294	10	0.66056	D	0.02	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	701;719;517;702;727	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	N	702;727;719;702;679;610;517	ENSP00000377132:D702N;ENSP00000386200:D727N;ENSP00000385069:D719N;ENSP00000265436:D702N;ENSP00000377129:D610N;ENSP00000377130:D517N	ENSP00000265436:D702N	D	+	1	0	FOXP2	114117173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.831000	0.97527	0.650000	0.86243	GAC	.		0.443	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114329937	G	A	114329937	3	1	8	1	0	0	0	0	1	0	0	0	6051	1058	37	1	2333	1	FOXP2	7	114329937	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	41299475	114329937	44808726	65	1158											
EXOC4	60412	hgsc.bcm.edu	37	7	133580353	133580353	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:133580353G>T	ENST00000253861.4	+	12	1765	c.1736G>T	c.(1735-1737)aGc>aTc	p.S579I	EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Splice_Site_p.S189I|EXOC4_ENST00000539845.1_Splice_Site_p.S478I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	579					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)	p.S579N(1)		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)				CATTTCCAGAGCACAATCATT	0.418																																					p.S579I		.											EXOC4,colon,carcinoma,+1,1	EXOC4	+1	1	Substitution - Missense(1)	ovary(1)	c.G1736T						.						194	170	178					7																	133580353		2203	4300	6503	SO:0001630	splice_region_variant	60412	exon12			TCCAGAGCACAAT	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.1735-1G>T	7.37:g.133580353G>T		49	0		42	2	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310024	0.81247	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83124	0.5186	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.83275	0.84;0.996;0.982	T	0.82853	-0.0252	9	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	111;189;579	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	I	579;198;478;189	.	ENSP00000253861:S579I	S	+	2	0	EXOC4	133230893	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	9.841000	0.99482	2.894000	0.99253	0.591000	0.81541	AGC	.		0.418	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	Missense_Mutation	T	133580353	G	T	133580353	5	4	8	1	0	0	0	0	0	0	1	0	5322	985	34	3	1791	3	EXOC4	7	133580353	Splice_Site	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	19250416	133580353	25558310	66	1159											
CALD1	800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	134632323	134632323	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:134632323G>A	ENST00000361675.2	+	8	1826	c.1597G>A	c.(1597-1599)Ggc>Agc	p.G533S	CALD1_ENST00000417172.1_Missense_Mutation_p.G278S|CALD1_ENST00000495522.1_Missense_Mutation_p.G298S|CALD1_ENST00000361901.2_Missense_Mutation_p.G278S|CALD1_ENST00000393118.2_Missense_Mutation_p.G298S|CALD1_ENST00000424922.1_Missense_Mutation_p.G272S|CALD1_ENST00000361388.2_Missense_Mutation_p.G304S|CALD1_ENST00000422748.1_Missense_Mutation_p.G304S|CALD1_ENST00000543443.1_Missense_Mutation_p.G283S			Q05682	CALD1_HUMAN	caldesmon 1	533					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGTGGAAGCCGGCAAAAGGCT	0.642																																					p.G533S		.											.	.	.	0			c.G1597A						.						17	17	17					7																	134632323		2170	4262	6432	SO:0001583	missense	800	exon8			GAAGCCGGCAAAA	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1597G>A	7.37:g.134632323G>A	ENSP00000354826:p.Gly533Ser	100	0		68	8	NM_033138	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946812	0.53186	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.48	5.48	0.80851	.	0.000000	0.53938	D	0.000060	T	0.68026	0.2956	M	0.80028	2.48	0.45250	D	0.998251	D;D;D;D;D;D;D;D;D;D	0.76494	0.99;0.999;0.997;0.999;0.997;0.997;0.997;0.997;0.999;0.997	P;D;P;D;P;P;P;P;D;P	0.67725	0.778;0.922;0.867;0.953;0.79;0.839;0.79;0.79;0.953;0.9	T	0.64343	-0.6430	10	0.15952	T	0.53	-14.1336	18.1304	0.89599	0.0:0.0:1.0:0.0	.	227;283;304;298;272;298;278;304;533;278	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	S	278;278;304;304;533;278;298;272;298;283	ENSP00000398826:G278S;ENSP00000411476:G278S;ENSP00000355000:G304S;ENSP00000395710:G304S;ENSP00000354826:G533S;ENSP00000354513:G278S;ENSP00000376826:G298S;ENSP00000393621:G272S;ENSP00000419673:G298S;ENSP00000445641:G283S	ENSP00000355000:G304S	G	+	1	0	CALD1	134282863	1.000000	0.71417	0.823000	0.32752	0.003000	0.03518	5.972000	0.70448	2.569000	0.86673	0.563000	0.77884	GGC	.		0.642	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		A	134632323	G	A	134632323	3	1	8	1	0	0	0	0	1	0	0	0	2588	1116	39	1	1676	1	CALD1	7	134632323	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	1051970	134632323	24506340	67	1160											
NUP205	23165	hgsc.bcm.edu;bcgsc.ca	37	7	135286256	135286256	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:135286256G>T	ENST00000285968.6	+	17	2538		c.e17+1			NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						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)			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						CCCTTTCCTGGTATATGCTTA	0.393																																					.		.											.	.	.	0			c.2512+1G>T						.						154	150	151					7																	135286256		2203	4300	6503	SO:0001630	splice_region_variant	23165	exon17			TTCCTGGTATATG	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.2512+1G>T	7.37:g.135286256G>T		68	0		54	4	NM_015135	A6H8X3|Q86YC1	Splice_Site	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494986	0.64186	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9616	0.97254	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP205	134936796	1.000000	0.71417	0.998000	0.56505	0.491000	0.33493	9.687000	0.98667	2.724000	0.93272	0.561000	0.74099	.	.		0.393	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		Intron	T	135286256	G	T	135286256	5	4	8	1	0	0	0	0	0	0	1	0	10798	1275	44	3	2579	3	NUP205	7	135286256	Splice_Site	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	653933	135286256	23852407	68	1161											
MLL3	58508	hgsc.bcm.edu	37	7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:151921114A>T	ENST00000262189.6	-	20	3527	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C1103*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1103					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.C1103*(10)									CACATTGTCTACATTGCAGAA	0.338																																					p.C1103X		.											MLL3_ENST00000355193,NS,carcinoma,0,10	MLL3_ENST00000355193	0	10	Substitution - Nonsense(10)	kidney(6)|endometrium(4)	c.T3309A						.						56	51	52					7																	151921114		2203	4300	6503	SO:0001587	stop_gained	58508	exon20			TTGTCTACATTGC	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.3309T>A	7.37:g.151921114A>T	ENSP00000262189:p.Cys1103*	109	2		88	5	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	41	8.814636	0.98964	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	-2.79	0.05841	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2367	0.59972	0.4373:0.0:0.5627:0.0	rs4024337	.	.	.	X	1103	.	ENSP00000262189:C1103X	C	-	3	2	MLL3	151552047	0.735000	0.28153	0.983000	0.44433	0.992000	0.81027	-0.154000	0.10130	-0.431000	0.07307	0.528000	0.53228	TGT	.		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151921114	A	T	151921114	4	4	8	1	0	0	0	0	0	1	0	0	9660	389	14	5	11586	5	MLL3	7	151921114	Nonsense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	16634858	151921114	7217549	69	1162											
PAXIP1	22976	bcgsc.ca	37	7	154753289	154753289	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:154753289C>T	ENST00000404141.1	-	11	2351	c.2197G>A	c.(2197-2199)Gcc>Acc	p.A733T	PAXIP1_ENST00000397192.1_Missense_Mutation_p.A733T|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	733	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				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)		GTATATTTGGCACCTGCCAAA	0.333																																					p.A733T													.	PAXIP1	150	0			c.G2197A						.						50	48	49					7																	154753289		1837	4093	5930	SO:0001583	missense	22976	exon11			ATTTGGCACCTGC	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.2197G>A	7.37:g.154753289C>T	ENSP00000384048:p.Ala733Thr	60	0		66	4	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110057	0.77210	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.57107	0.42;0.42	5.08	5.08	0.68730	BRCT (3);	0.000000	0.52532	U	0.000062	T	0.81108	0.4754	H	0.94222	3.51	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	0.86610	0.1872	10	0.72032	D	0.01	-24.234	18.8369	0.92167	0.0:1.0:0.0:0.0	.	686;699;733	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	T	733;733;557;686	ENSP00000384048:A733T;ENSP00000380376:A733T	ENSP00000319149:A686T	A	-	1	0	PAXIP1	154384222	1.000000	0.71417	0.976000	0.42696	0.693000	0.40251	7.158000	0.77470	2.504000	0.84457	0.655000	0.94253	GCC	.		0.333	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		T	154753289	C	T	154753289	3	4	8	1	0	0	0	0	1	0	0	0	11526	710	25	3	1056	3	PAXIP1	7	154753289	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	2832175	154753289	4385374	70	1163											
HTR5A	3361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	154863304	154863304	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr7:154863304G>T	ENST00000287907.2	+	1	1271	c.695G>T	c.(694-696)gGc>gTc	p.G232V	HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	232					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)			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)	TTCCGCGTGGGCTCCAGGAAG	0.532																																					p.G232V		.											.	.	.	0			c.G695T						.						75	72	73					7																	154863304		2203	4300	6503	SO:0001583	missense	3361	exon1			GCGTGGGCTCCAG		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.695G>T	7.37:g.154863304G>T	ENSP00000287907:p.Gly232Val	54	0		29	12	NM_024012	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371314	0.82573	.	.	ENSG00000157219	ENST00000287907	T	0.36157	1.27	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	L	0.52011	1.625	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.52283	-0.8596	10	0.42905	T	0.14	.	17.9833	0.89148	0.0:0.0:1.0:0.0	.	232	P47898	5HT5A_HUMAN	V	232	ENSP00000287907:G232V	ENSP00000287907:G232V	G	+	2	0	HTR5A	154494237	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.173000	0.94815	2.485000	0.83878	0.650000	0.86243	GGC	.		0.532	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		T	154863304	G	T	154863304	3	4	8	1	0	0	0	0	1	0	0	0	7477	1203	42	3	697	3	HTR5A	7	154863304	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	110015	154863304	4275359	71	1164											
ADAM28	10863	hgsc.bcm.edu	37	8	24199122	24199122	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr8:24199122G>T	ENST00000265769.4	+	16	1792	c.1682G>T	c.(1681-1683)tGt>tTt	p.C561F	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.C308F|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	561	Cys-rich.				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)	p.C561F(1)		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)		GATACCATGTGTGGGAAGTTG	0.388																																					p.C561F	NSCLC(193;488 2149 22258 34798 40734)	.											ADAM28,NS,carcinoma,0,1	ADAM28	0	1	Substitution - Missense(1)	endometrium(1)	c.G1682T						.						240	235	237					8																	24199122		2203	4300	6503	SO:0001583	missense	10863	exon16			CCATGTGTGGGAA	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.1682G>T	8.37:g.24199122G>T	ENSP00000265769:p.Cys561Phe	71	0		31	2	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662407	0.67700	.	.	ENSG00000042980	ENST00000265769;ENST00000397649	T;T	0.63580	-0.05;-0.05	5.84	5.84	0.93424	ADAM, cysteine-rich (2);	.	.	.	.	D	0.87438	0.6177	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91528	0.5240	9	0.87932	D	0	.	17.6318	0.88111	0.0:0.0:1.0:0.0	.	561;561	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	F	561;308	ENSP00000265769:C561F;ENSP00000380770:C308F	ENSP00000265769:C561F	C	+	2	0	ADAM28	24255067	1.000000	0.71417	0.999000	0.59377	0.610000	0.37248	7.380000	0.79704	2.779000	0.95612	0.655000	0.94253	TGT	.		0.388	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		T	24199122	G	T	24199122	3	4	8	1	0	0	0	0	1	0	0	0	246	1377	48	3	1800	3	ADAM28	8	24199122	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		24199122	122164900	72	1165											
MYST3	7994	hgsc.bcm.edu	37	8	41806877	41806877	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr8:41806877G>T	ENST00000396930.3	-	11	2146	c.1603C>A	c.(1603-1605)Ccc>Acc	p.P535T	KAT6A_ENST00000265713.2_Missense_Mutation_p.P535T|KAT6A_ENST00000485568.1_Missense_Mutation_p.P535T|KAT6A_ENST00000406337.1_Missense_Mutation_p.P535T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	535	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				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)	p.P535S(1)									TACAATTTGGGCAGCCTGTAA	0.348																																					p.P535T		.											MYST3,NS,carcinoma,0,1	MYST3	0	1	Substitution - Missense(1)	lung(1)	c.C1603A						.						32	34	33					8																	41806877		2202	4299	6501	SO:0001583	missense	7994	exon11			ATTTGGGCAGCCT	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.1603C>A	8.37:g.41806877G>T	ENSP00000380136:p.Pro535Thr	57	0		77	3	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529920	0.27387	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84516	0.17;0.17;0.17;-1.86	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.89458	0.6721	L	0.49126	1.545	0.80722	D	1	B;D	0.58268	0.382;0.982	B;P	0.59595	0.289;0.86	D	0.89920	0.4058	10	0.62326	D	0.03	-15.7132	19.2204	0.93795	0.0:0.0:1.0:0.0	.	535;535	A5PLL3;Q92794	.;KAT6A_HUMAN	T	535;535;535;115;535	ENSP00000265713:P535T;ENSP00000385888:P535T;ENSP00000380136:P535T;ENSP00000430606:P535T	ENSP00000265713:P535T	P	-	1	0	KAT6A	41926034	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	9.476000	0.97823	2.618000	0.88619	0.591000	0.81541	CCC	.		0.348	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41806877	G	T	41806877	3	4	8	1	0	0	0	0	1	0	0	0	10142	1203	42	3	4443	3	MYST3	8	41806877	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	17607755	41806877	104557145	73	1166											
SNX31	169166	hgsc.bcm.edu;bcgsc.ca	37	8	101596346	101596346	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr8:101596346G>A	ENST00000311812.2	-	12	1313	c.1163C>T	c.(1162-1164)aCa>aTa	p.T388I	SNX31_ENST00000428383.2_Missense_Mutation_p.T289I|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	388					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)			CACCATTTCTGTATTCTCAGC	0.413																																					p.T388I		.											.	.	.	0			c.C1163T						.						158	132	141					8																	101596346		2203	4300	6503	SO:0001583	missense	169166	exon12			ATTTCTGTATTCT		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.1163C>T	8.37:g.101596346G>A	ENSP00000312368:p.Thr388Ile	75	0		72	4	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.34|11.34	1.610474|1.610474	0.28712|0.28712	.|.	.|.	ENSG00000174226|ENSG00000174226	ENST00000518342|ENST00000311812;ENST00000428383	.|T;T	.|0.20463	.|2.38;2.07	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.194717	.|0.36066	.|N	.|0.002814	.|T	.|0.07863	.|0.0197	N|N	0.01576|0.01576	-0.805|-0.805	0.23882|0.23882	N|N	0.996577|0.996577	.|B;B	.|0.29766	.|0.256;0.167	.|B;B	.|0.23419	.|0.039;0.046	.|T	.|0.24941	.|-1.0146	.|10	.|0.10377	.|T	.|0.69	-4.9781|-4.9781	16.0667|16.0667	0.80887|0.80887	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;388	.|Q8N9S9-2;Q8N9S9	.|.;SNX31_HUMAN	X|I	15|388;289	.|ENSP00000312368:T388I;ENSP00000405024:T289I	.|ENSP00000312368:T388I	Q|T	-|-	1|2	0|0	SNX31|SNX31	101665522|101665522	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.895000|0.895000	0.52256|0.52256	3.219000|3.219000	0.51200|0.51200	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CAG|ACA	.		0.413	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		A	101596346	G	A	101596346	3	1	8	1	0	0	0	0	1	0	0	0	14946	1377	48	3	171	3	SNX31	8	101596346	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	59789469	101596346	44767676	74	1167											
CSMD3	114788	hgsc.bcm.edu	37	8	113349922	113349922	+	Silent	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr8:113349922G>T	ENST00000297405.5	-	43	6935	c.6691C>A	c.(6691-6693)Cga>Aga	p.R2231R	CSMD3_ENST00000455883.2_Silent_p.R2127R|CSMD3_ENST00000352409.3_Silent_p.R2161R|CSMD3_ENST00000343508.3_Silent_p.R2191R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2231*(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						AAACCATTTCGAAACGGGCGT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R2231R		.											CSMD3_ENST00000343508,caecum,carcinoma,+1,7	CSMD3_ENST00000343508	+1	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6691A						.						92	94	93					8																	113349922		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon43			CATTTCGAAACGG	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.6691C>A	8.37:g.113349922G>T		118	0		55	3	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			.		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113349922	G	T	113349922	2	4	8	1	0	0	0	0	0	0	0	1	3955	1066	37	2		2	CSMD3	8	113349922	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	11753576	113349922	33014100	75	1168											
ADCY8	114	broad.mit.edu	37	8	131812682	131812682	+	Missense_Mutation	SNP	T	T	C	rs539555378		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr8:131812682T>C	ENST00000286355.5	-	15	5142	c.3050A>G	c.(3049-3051)gAc>gGc	p.D1017G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D886G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1017					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)			CTCATCGAAGTCAGCAATGAT	0.403										HNSCC(32;0.087)			T|||	1	0.000199681	0	0	5008	,	,		22355	0		0	False		,,,				2504	0.001				p.D1017G													ADCY8,NS,carcinoma,+1,1	ADCY8	291	0			c.A3050G						.						181	164	170					8																	131812682		2203	4300	6503	SO:0001583	missense	114	exon15			TCGAAGTCAGCAA	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.3050A>G	8.37:g.131812682T>C	ENSP00000286355:p.Asp1017Gly	92	0		89	3	NM_001115		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056704	0.76074	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.81739	-1.53;-1.53	5.31	5.31	0.75309	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.048033	0.85682	D	0.000000	D	0.84483	0.5482	L	0.33137	0.985	0.38897	D	0.957243	P;B	0.34892	0.474;0.433	P;P	0.56398	0.682;0.797	D	0.86645	0.1894	10	0.72032	D	0.01	.	14.4386	0.67301	0.0:0.0:0.0:1.0	.	886;1017	E7EVL1;P40145	.;ADCY8_HUMAN	G	1017;886	ENSP00000286355:D1017G;ENSP00000367161:D886G	ENSP00000286355:D1017G	D	-	2	0	ADCY8	131881864	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	4.270000	0.58896	1.997000	0.58415	0.455000	0.32223	GAC	.		0.403	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			C	131812682	T	C	131812682	3	2	8	1	0	0	0	0	1	0	0	0	300	1667	58	4	721	4	ADCY8	8	131812682	Missense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	18462760	131812682	14551340	76	1169											
PHF20L1	51105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	133816130	133816130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr8:133816130C>T	ENST00000395386.2	+	7	873	c.574C>T	c.(574-576)Cga>Tga	p.R192*	PHF20L1_ENST00000395379.1_Nonsense_Mutation_p.R192*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.R166*|PHF20L1_ENST00000395376.1_Nonsense_Mutation_p.R196*|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Nonsense_Mutation_p.R166*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	192							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)			GAGTAAACCTCGAACCAGCGC	0.408																																					p.R192X		.											.	.	.	0			c.C574T						.						67	66	66					8																	133816130		2203	4299	6502	SO:0001587	stop_gained	51105	exon7			AAACCTCGAACCA	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.574C>T	8.37:g.133816130C>T	ENSP00000378784:p.Arg192*	58	0		50	11	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	39	7.719031	0.98450	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	.	.	.	5.89	5.89	0.94794	.	0.163292	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4745	12.7776	0.57457	0.2564:0.7436:0.0:0.0	.	.	.	.	X	196;192;166;192;192;166;196;62;166;31	.	ENSP00000324519:R192X	R	+	1	2	PHF20L1	133885312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.511000	0.53400	2.788000	0.95919	0.585000	0.79938	CGA	.		0.408	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		T	133816130	C	T	133816130	4	4	8	1	0	0	0	0	0	1	0	0	11871	876	31	1	596	1	PHF20L1	8	133816130	Nonsense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	2003448	133816130	12547892	77	1170											
SLA	6503	hgsc.bcm.edu;bcgsc.ca	37	8	134062164	134062164	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr8:134062164C>T	ENST00000338087.5	-	5	1050	c.231G>A	c.(229-231)gtG>gtA	p.V77V	TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Silent_p.V94V|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Silent_p.V117V|SLA_ENST00000517648.1_Silent_p.V94V|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000518565.1_5'UTR	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	77	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			AAACTCTGGCCACACATATTC	0.448																																					p.V117V		.											.	.	.	0			c.G351A						.						141	118	126					8																	134062164		2203	4300	6503	SO:0001819	synonymous_variant	6503	exon3			TCTGGCCACACAT		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.231G>A	8.37:g.134062164C>T		64	0		76	4	NM_006748	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Silent	SNP	ENST00000338087.5	37	CCDS6370.1																																																																																			.		0.448	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			T	134062164	C	T	134062164	2	4	8	1	0	0	0	0	0	0	0	1	14408	581	21	3		3	SLA	8	134062164	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	246034	134062164	12301858	78	1171											
TMC1	117531	hgsc.bcm.edu	37	9	75387387	75387387	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr9:75387387G>A	ENST00000297784.5	+	13	1340	c.800G>A	c.(799-801)gGa>gAa	p.G267E	TMC1_ENST00000396237.3_Missense_Mutation_p.G267E|TMC1_ENST00000340019.3_Missense_Mutation_p.G267E	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	267					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						CGAACAATTGGATGGATGAAT	0.403																																					p.G267E	Pancreas(75;173 1345 14232 34245 43413)	.											TMC1,NS,carcinoma,0,1	TMC1	0	0			c.G800A						.						221	216	218					9																	75387387		2203	4300	6503	SO:0001583	missense	117531	exon13			CAATTGGATGGAT	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.800G>A	9.37:g.75387387G>A	ENSP00000297784:p.Gly267Glu	71	0		47	2	NM_138691	A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027827	0.93518	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.51071	0.72;0.72;0.72	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.71915	-0.4448	10	0.48119	T	0.1	-25.4502	19.5228	0.95192	0.0:0.0:1.0:0.0	.	234;234;267	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	E	267;267;234;234;234;261;267	ENSP00000297784:G267E;ENSP00000341433:G267E;ENSP00000379538:G267E	ENSP00000297784:G267E	G	+	2	0	TMC1	74577207	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.983000	0.93477	2.770000	0.95276	0.650000	0.86243	GGA	.		0.403	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			A	75387387	G	A	75387387	3	1	8	1	0	0	0	0	1	0	0	0	16031	1174	41	3	834	3	TMC1	9	75387387	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		75387387	65826044	79	1172											
PHYHD1	254295	bcgsc.ca	37	9	131704026	131704026	+	3'UTR	SNP	C	C	T	rs141466531		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr9:131704026C>T	ENST00000372592.3	+	0	1843				RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000421063.2_3'UTR|PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000308941.5_Silent_p.P296P	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1								dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TCGCCCCTCCCGGGTGAAGCT	0.607																																					p.P296P													.	PHYHD1	29	0			c.C888T						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	42	43	42		,,888	-10.1	0	9	dbSNP_134	42	0,8600		0,0,4300	no	utr-3,utr-3,coding-synonymous	PHYHD1	NM_001100876.1,NM_001100877.1,NM_174933.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,296/298	131704026	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	254295	exon12			CCCTCCCGGGTGA	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.*34C>T	9.37:g.131704026C>T		30	0		15	3	NM_174933	A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Silent	SNP	ENST00000372592.3	37	CCDS43885.1																																																																																			C|1.000;T|0.000		0.607	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		T	131704026	C	T	131704026	1	4	8	0	1	0	0	0	0	0	0	0	11904	639	23	1		1	PHYHD1	9	131704026	3'UTR	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	56316639	131704026	9509405	80	1173											
C9orf50	375759	broad.mit.edu	37	9	132377802	132377802	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr9:132377802G>T	ENST00000372478.4	-	4	1042	c.841C>A	c.(841-843)Cag>Aag	p.Q281K	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	281										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GTTGTGTCCTGCAGGGTCTCG	0.642																																					p.Q281K													.	C9orf50	25	0			c.C841A						.						68	59	62					9																	132377802		2203	4300	6503	SO:0001583	missense	375759	exon4			TGTCCTGCAGGGT	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.841C>A	9.37:g.132377802G>T	ENSP00000361556:p.Gln281Lys	69	0		48	3	NM_199350	Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	g	4.182	0.032329	0.08101	.	.	ENSG00000179058	ENST00000372478	T	0.19938	2.11	3.17	1.17	0.20885	.	0.481828	0.15435	N	0.262506	T	0.11324	0.0276	N	0.24115	0.695	0.09310	N	1	B	0.28850	0.225	B	0.26969	0.075	T	0.33137	-0.9880	10	0.17832	T	0.49	-9.2012	7.75	0.28892	0.0:0.0:0.5463:0.4537	.	281	Q5SZB4	CI050_HUMAN	K	281	ENSP00000361556:Q281K	ENSP00000361556:Q281K	Q	-	1	0	C9orf50	131417623	0.001000	0.12720	0.007000	0.13788	0.529000	0.34654	0.062000	0.14389	0.316000	0.23135	0.434000	0.28630	CAG	.		0.642	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		T	132377802	G	T	132377802	3	4	8	1	0	0	0	0	1	0	0	0	2494	1328	46	3	470	3	C9orf50	9	132377802	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	673776	132377802	8835629	81	1174											
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	17164817	17164817	+	Silent	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr10:17164817A>G	ENST00000377833.4	-	6	635	c.570T>C	c.(568-570)tgT>tgC	p.C190C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	190	EGF-like 2; 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)	TTGTATTAACACATGTGCCTC	0.378																																					p.C190C		.											.	.	.	0			c.T570C						.						75	65	68					10																	17164817		2203	4300	6503	SO:0001819	synonymous_variant	8029	exon6			ATTAACACATGTG	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.570T>C	10.37:g.17164817A>G		16	0		12	4	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			.		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17164817	A	G	17164817	2	3	8	1	0	0	0	0	0	0	0	1	4060	157	6	4		4	CUBN	10	17164817	Silent	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09		17164817	118369930	82	1175											
ENTPD1	953	hgsc.bcm.edu	37	10	97599460	97599460	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr10:97599460C>T	ENST00000371205.4	+	3	440	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000371207.3_Silent_p.L65L|ENTPD1_ENST00000453258.2_Silent_p.L60L|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_5'UTR			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	53					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGGATTGTGCTGGATGCGGG	0.418																																					p.L65L		.											ENTPD1,NS,carcinoma,0,1	ENTPD1	0	0			c.C193T						.						210	203	206					10																	97599460		2203	4300	6503	SO:0001819	synonymous_variant	953	exon3			ATTGTGCTGGATG	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.157C>T	10.37:g.97599460C>T		66	0		50	2	NM_001164178	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	CCDS7444.1																																																																																			.		0.418	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		T	97599460	C	T	97599460	2	4	8	1	0	0	0	0	0	0	0	1	5154	796	28	3		3	ENTPD1	10	97599460	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	80434643	97599460	37935287	83	1176											
TSSC4	10078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	2424013	2424013	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:2424013C>T	ENST00000333256.6	+	3	593	c.150C>T	c.(148-150)tcC>tcT	p.S50S	TSSC4_ENST00000380992.1_Intron|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380996.5_Intron|TSSC4_ENST00000451491.2_Silent_p.S50S			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	50										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)		AAGCACTGTCCCCGATGGGGC	0.637																																					p.S50S		.											.	.	.	0			c.C150T						.						58	38	45					11																	2424013		2186	4281	6467	SO:0001819	synonymous_variant	10078	exon2			ACTGTCCCCGATG	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.150C>T	11.37:g.2424013C>T		76	0		54	19	NM_005706	C9JS66|Q86VL2|Q9BRS6	Silent	SNP	ENST00000333256.6	37	CCDS7735.1																																																																																			.		0.637	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		T	2424013	C	T	2424013	2	4	8	1	0	0	0	0	0	0	0	1	16715	610	22	3		3	TSSC4	11	2424013	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		2424013	132582503	84	1177											
HPS5	11234	hgsc.bcm.edu	37	11	18313248	18313248	+	Silent	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:18313248G>A	ENST00000349215.3	-	16	2458	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	HPS5_ENST00000438420.2_Silent_p.C613C|HPS5_ENST00000396253.3_Silent_p.C613C|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	727					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.C727C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGCAATGGCGCATGGAGAAC	0.408									Hermansky-Pudlak syndrome																												p.C727C		.											HPS5,NS,carcinoma,0,1	HPS5	0	1	Substitution - coding silent(1)	lung(1)	c.C2181T						.						170	159	163					11																	18313248		2199	4293	6492	SO:0001819	synonymous_variant	11234	exon16	Familial Cancer Database	HPS, HPS1-8	AATGGCGCATGGA	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.2181C>T	11.37:g.18313248G>A		54	0		37	2	NM_181507	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	CCDS7836.1																																																																																			.		0.408	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		A	18313248	G	A	18313248	2	1	8	1	0	0	0	0	0	0	0	1	7369	1079	38	1		1	HPS5	11	18313248	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	15889235	18313248	116693268	85	1178											
PEX16	9409	hgsc.bcm.edu	37	11	45939028	45939028	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:45939028C>T	ENST00000378750.5	-	2	372	c.129G>A	c.(127-129)tcG>tcA	p.S43S	PEX16_ENST00000532681.1_5'UTR|PEX16_ENST00000241041.3_Silent_p.S43S|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	43					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)		ACAGCTCGTGCGAATCGGCGA	0.647																																					p.S43S		.											.	.	.	0			c.G129A						.						52	54	53					11																	45939028		2203	4299	6502	SO:0001819	synonymous_variant	9409	exon2			CTCGTGCGAATCG	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.129G>A	11.37:g.45939028C>T		93	0		68	3	NM_004813	Q9BWB9	Silent	SNP	ENST00000378750.5	37	CCDS31472.1																																																																																			.		0.647	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		T	45939028	C	T	45939028	2	4	8	1	0	0	0	0	0	0	0	1	11782	755	27	1		1	PEX16	11	45939028	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	27625780	45939028	89067488	86	1179											
LRP4	4038	hgsc.bcm.edu;bcgsc.ca	37	11	46897416	46897416	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:46897416G>T	ENST00000378623.1	-	26	3880	c.3638C>A	c.(3637-3639)cCc>cAc	p.P1213H	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	1213					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)		CAGTCCATTGGGCCATCCTAG	0.592																																					p.P1213H		.											.	.	.	0			c.C3638A						.						127	95	106					11																	46897416		2201	4299	6500	SO:0001583	missense	4038	exon26			CCATTGGGCCATC	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.3638C>A	11.37:g.46897416G>T	ENSP00000367888:p.Pro1213His	62	0		48	4	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763490	0.89932	.	.	ENSG00000134569	ENST00000378623	D	0.99571	-6.19	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96757	0.9558	10	0.87932	D	0	.	19.8574	0.96764	0.0:0.0:1.0:0.0	.	1213	O75096	LRP4_HUMAN	H	1213	ENSP00000367888:P1213H	ENSP00000367888:P1213H	P	-	2	0	LRP4	46853992	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.667000	0.98616	2.704000	0.92352	0.555000	0.69702	CCC	.		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46897416	G	T	46897416	3	4	8	1	0	0	0	0	1	0	0	0	8994	1232	43	3	2131	3	LRP4	11	46897416	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	958388	46897416	88109100	87	1180											
MYBPC3	4607	hgsc.bcm.edu;bcgsc.ca	37	11	47360898	47360898	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:47360898C>T	ENST00000545968.1	-	22	2179	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	MYBPC3_ENST00000399249.2_Missense_Mutation_p.D709N|MYBPC3_ENST00000256993.4_Missense_Mutation_p.D708N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	709	Ig-like C2-type 5.				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)		ACCCACTCATCGCTGTCACCT	0.592																																					p.D709N		.											.	.	.	0			c.G2125A						.						156	177	170					11																	47360898		2124	4224	6348	SO:0001583	missense	4607	exon21			ACTCATCGCTGTC	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.2125G>A	11.37:g.47360898C>T	ENSP00000442795:p.Asp709Asn	66	0		50	4	NM_000256	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763426	0.31228	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.74209	-0.82;-0.82;-0.82	5.29	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.48043	-0.9069	9	0.52906	T	0.07	.	8.4413	0.32816	0.0:0.7919:0.0:0.2081	.	708	Q14896	MYPC3_HUMAN	N	709;709;708	ENSP00000442795:D709N;ENSP00000382193:D709N;ENSP00000256993:D708N	ENSP00000256993:D708N	D	-	1	0	MYBPC3	47317474	0.004000	0.15560	0.213000	0.23690	0.074000	0.17049	0.958000	0.29227	1.239000	0.43787	-0.254000	0.11334	GAT	.		0.592	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			T	47360898	C	T	47360898	3	4	8	1	0	0	0	0	1	0	0	0	10051	884	31	1	1751	1	MYBPC3	11	47360898	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	463482	47360898	87645618	88	1181											
CD6	923	hgsc.bcm.edu	37	11	60780933	60780933	+	Silent	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:60780933C>A	ENST00000313421.7	+	7	1375	c.1189C>A	c.(1189-1191)Cgg>Agg	p.R397R	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.R397R|CD6_ENST00000344028.5_Silent_p.R397R|CD6_ENST00000352009.5_Silent_p.R397R|CD6_ENST00000452451.2_Silent_p.R397R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	397					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						CAAGGAATCTCGGGAGCTAAT	0.443																																					p.R397R	Pancreas(169;904 2017 4767 38890 42505)	.											CD6_ENST00000313421,caecum,carcinoma,0,2	CD6_ENST00000313421	0	0			c.C1189A						.						189	192	191					11																	60780933		2203	4299	6502	SO:0001819	synonymous_variant	923	exon7			GAATCTCGGGAGC		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.1189C>A	11.37:g.60780933C>A		40	0		45	2	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	CCDS7999.1																																																																																			.		0.443	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		A	60780933	C	A	60780933	2	1	8	1	0	0	0	0	0	0	0	1	3035	875	31	2		2	CD6	11	60780933	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	13420035	60780933	74225583	89	1182											
KCNK4	50801	broad.mit.edu	37	11	64060511	64060511	+	Silent	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:64060511G>A	ENST00000539216.1	+	1	381	c.21G>A	c.(19-21)ctG>ctA	p.L7L	KCNK4_ENST00000539651.1_Intron|KCNK4_ENST00000422670.2_Silent_p.L7L|KCNK4_ENST00000538767.1_Intron|KCNK4_ENST00000394525.2_Silent_p.L7L|RP11-783K16.10_ENST00000539086.1_RNA|Y_RNA_ENST00000384297.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	7					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						CCACGCTCCTGGCCCTGCTGG	0.736																																					p.L7L													.	KCNK4	22	0			c.G21A						.						19	21	20					11																	64060511		1846	3462	5308	SO:0001819	synonymous_variant	50801	exon2			GCTCCTGGCCCTG	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.21G>A	11.37:g.64060511G>A		77	0		68	5	NM_033310	B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	CCDS8067.1																																																																																			.		0.736	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		A	64060511	G	A	64060511	2	1	8	1	0	0	0	0	0	0	0	1	8095	1335	47	3		3	KCNK4	11	64060511	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	3279578	64060511	70946005	90	1183											
ATG2A	23130	bcgsc.ca	37	11	64676552	64676552	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:64676552G>T	ENST00000377264.3	-	16	2387	c.2275C>A	c.(2275-2277)Ctg>Atg	p.L759M	ATG2A_ENST00000421419.2_Missense_Mutation_p.L759M	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	759					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						GACAGCTCCAGTTCCTCTCCC	0.617																																					p.L759M													.	ATG2A	133	0			c.C2275A						.						88	60	69					11																	64676552		2200	4297	6497	SO:0001583	missense	23130	exon16			GCTCCAGTTCCTC		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.2275C>A	11.37:g.64676552G>T	ENSP00000366475:p.Leu759Met	84	0		51	5	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.56|13.56	2.274449|2.274449	0.40194|0.40194	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.07567|.	3.18;3.18|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.570926|.	0.17286|.	N|.	0.179822|.	T|T	0.48502|0.48502	0.1503|0.1503	L|L	0.47716|0.47716	1.5|1.5	0.29615|0.29615	N|N	0.846661|0.846661	P|.	0.34977|.	0.478|.	B|.	0.27887|.	0.084|.	T|T	0.44574|0.44574	-0.9319|-0.9319	10|5	0.35671|.	T|.	0.21|.	.|.	10.7062|10.7062	0.45956|0.45956	0.0:0.0:0.8098:0.1902|0.0:0.0:0.8098:0.1902	.|.	759|.	Q2TAZ0|.	ATG2A_HUMAN|.	M|N	759|560	ENSP00000410522:L759M;ENSP00000366475:L759M|.	ENSP00000366475:L759M|.	L|T	-|-	1|2	2|0	ATG2A|ATG2A	64433128|64433128	0.991000|0.991000	0.36638|0.36638	0.992000|0.992000	0.48379|0.48379	0.397000|0.397000	0.30659|0.30659	2.062000|2.062000	0.41413|0.41413	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CTG|ACT	.		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64676552	G	T	64676552	3	4	8	1	0	0	0	0	1	0	0	0	1094	1020	36	3	3645	3	ATG2A	11	64676552	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	616041	64676552	70329964	91	1184											
MRPL48	51642	bcgsc.ca	37	11	73536794	73536794	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:73536794C>T	ENST00000310614.7	+	4	810	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Missense_Mutation_p.P52S|MRPL48_ENST00000535529.1_Missense_Mutation_p.P34S|MRPL48_ENST00000411840.2_5'UTR	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	52						mitochondrial ribosome (GO:0005761)				kidney(1)	1						CAAGACAAAGCCCACCCACGG	0.398																																					p.P52S													.	MRPL48	16	0			c.C154T						.						42	42	42					11																	73536794		1848	4076	5924	SO:0001583	missense	51642	exon4			ACAAAGCCCACCC	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"Mitochondrial ribosomal proteins / large subunits"	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.154C>T	11.37:g.73536794C>T	ENSP00000308717:p.Pro52Ser	63	0		61	4	NM_016055	B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	37	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443545	0.43429	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000542303	T;T	0.79033	-0.91;-1.23	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.81497	2.545	0.49915	D	0.999836	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87880	0.2677	10	0.52906	T	0.07	-28.465	14.8661	0.70416	0.0:1.0:0.0:0.0	.	34;52	B4DN34;Q96GC5	.;RM48_HUMAN	S	52;34;52	ENSP00000308717:P52S;ENSP00000443685:P52S	ENSP00000308717:P52S	P	+	1	0	MRPL48	73214442	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	1.976000	0.40579	2.890000	0.99128	0.585000	0.79938	CCC	.		0.398	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		T	73536794	C	T	73536794	3	4	8	1	0	0	0	0	1	0	0	0	9850	739	26	3	168	3	MRPL48	11	73536794	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	8860242	73536794	61469722	92	1185											
PDGFD	80310	hgsc.bcm.edu	37	11	103870948	103870948	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr11:103870948C>T	ENST00000393158.2	-	2	339	c.160G>A	c.(160-162)Gag>Aag	p.E54K	PDGFD_ENST00000302251.5_Missense_Mutation_p.E48K			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	54	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)		p.E54K(2)		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)		TGGATGGTCTCATCTCTTCGG	0.468																																					p.E54K		.											PDGFD_ENST00000393158,NS,carcinoma,0,2	PDGFD_ENST00000393158	0	2	Substitution - Missense(2)	lung(2)	c.G160A						.						191	159	170					11																	103870948		2202	4299	6501	SO:0001583	missense	80310	exon2			TGGTCTCATCTCT	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.160G>A	11.37:g.103870948C>T	ENSP00000376865:p.Glu54Lys	82	0		45	2	NM_025208	A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028096	0.75390	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.26957	1.74;1.77;1.7	5.85	4.93	0.64822	CUB (2);	0.160644	0.53938	D	0.000051	T	0.15565	0.0375	N	0.11201	0.11	0.58432	D	0.999991	B;B	0.32409	0.37;0.319	B;B	0.34242	0.178;0.111	T	0.12268	-1.0554	10	0.22109	T	0.4	-23.4081	15.3594	0.74460	0.0:0.9318:0.0:0.0682	.	54;48	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	K	54;48;77	ENSP00000376865:E54K;ENSP00000302193:E48K;ENSP00000432909:E77K	ENSP00000302193:E48K	E	-	1	0	PDGFD	103376158	1.000000	0.71417	0.793000	0.32043	0.957000	0.61999	4.631000	0.61304	2.765000	0.95021	0.561000	0.74099	GAG	.		0.468	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		T	103870948	C	T	103870948	3	4	8	1	0	0	0	0	1	0	0	0	11699	835	29	3	976	3	PDGFD	11	103870948	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	30334154	103870948	31135568	93	1186											
CHD4	1108	hgsc.bcm.edu	37	12	6680126	6680126	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:6680126C>T	ENST00000357008.2	-	39	5793	c.5630G>A	c.(5629-5631)cGa>cAa	p.R1877Q	NOP2_ENST00000542015.1_5'Flank|NOP2_ENST00000322166.5_5'Flank|NOP2_ENST00000399466.2_5'Flank|NOP2_ENST00000537442.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.R1870Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1902Q|NOP2_ENST00000540228.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.R1905Q|NOP2_ENST00000541778.1_5'Flank|NOP2_ENST00000545915.1_5'Flank|NOP2_ENST00000382421.3_5'Flank|NOP2_ENST00000545200.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1877	Required for interaction with PCNT.				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)	p.R1905Q(2)|p.R1877Q(2)		central_nervous_system(2)	2						TGGGGGAATTCGGGCAATGGT	0.537																																					p.R1877Q	Colon(32;586 792 4568 16848 45314)	.											CHD4_ENST00000357008,bladder,carcinoma,0,3	CHD4_ENST00000357008	0	4	Substitution - Missense(4)	urinary_tract(2)|endometrium(2)	c.G5630A						.						248	245	246					12																	6680126		2203	4300	6503	SO:0001583	missense	1108	exon39			GGAATTCGGGCAA	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.5630G>A	12.37:g.6680126C>T	ENSP00000349508:p.Arg1877Gln	43	0		30	2	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993912	0.93167	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92099	-2.97;-2.89;-2.97;-2.9	5.68	5.68	0.88126	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.64260	1.97	0.80722	D	1	D;D;P	0.76494	0.999;0.997;0.945	D;D;P	0.72982	0.975;0.979;0.567	D	0.95043	0.8180	10	0.54805	T	0.06	-2.3938	19.7959	0.96481	0.0:1.0:0.0:0.0	.	1905;1877;1870	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1902;1870;1905;1877;1851	ENSP00000440392:R1902Q;ENSP00000440542:R1870Q;ENSP00000312419:R1905Q;ENSP00000349508:R1877Q	ENSP00000312419:R1905Q	R	-	2	0	CHD4	6550387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.689000	0.91719	0.655000	0.94253	CGA	.		0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		T	6680126	C	T	6680126	3	4	8	1	0	0	0	0	1	0	0	0	3334	884	31	1	116	1	CHD4	12	6680126	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		6680126	127171769	94	1187											
PDE1B	5153	hgsc.bcm.edu	37	12	54964077	54964077	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:54964077A>T	ENST00000243052.3	+	6	966	c.530A>T	c.(529-531)gAc>gTc	p.D177V	PDE1B_ENST00000550620.1_Missense_Mutation_p.D157V|PDE1B_ENST00000538346.1_Missense_Mutation_p.D136V|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	177					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)	GCAGCAGATGACCATGCCCTG	0.498																																					p.D177V		.											PDE1B,NS,carcinoma,0,1	PDE1B	0	0			c.A530T						.						229	185	200					12																	54964077		2203	4300	6503	SO:0001583	missense	5153	exon6			CAGATGACCATGC	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.530A>T	12.37:g.54964077A>T	ENSP00000243052:p.Asp177Val	13	0		11	2	NM_000924	Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939426	0.52972	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70631	-0.5;-0.47;-0.48	3.84	3.84	0.44239	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.058783	0.64402	D	0.000005	T	0.76786	0.4036	L	0.54323	1.7	0.80722	D	1	D;D	0.54601	0.961;0.967	P;P	0.60541	0.876;0.756	T	0.78934	-0.2008	10	0.72032	D	0.01	.	11.2322	0.48918	1.0:0.0:0.0:0.0	.	157;177	Q01064-2;Q01064	.;PDE1B_HUMAN	V	177;136;157	ENSP00000243052:D177V;ENSP00000442559:D136V;ENSP00000448519:D157V	ENSP00000243052:D177V	D	+	2	0	PDE1B	53250344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.921000	0.70028	1.970000	0.57323	0.459000	0.35465	GAC	.		0.498	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			T	54964077	A	T	54964077	3	4	8	1	0	0	0	0	1	0	0	0	11673	275	10	5	605	5	PDE1B	12	54964077	Missense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	48283951	54964077	78887818	95	1188											
ZFC3H1	196441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	72024647	72024647	+	Silent	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:72024647G>A	ENST00000378743.3	-	17	3916	c.3558C>T	c.(3556-3558)tgC>tgT	p.C1186C		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1186					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						AATCAAAACGGCAGAAACACT	0.348																																					p.C1186C		.											.	.	.	0			c.C3558T						.						117	109	111					12																	72024647		1976	4173	6149	SO:0001819	synonymous_variant	196441	exon17			AAAACGGCAGAAA	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.3558C>T	12.37:g.72024647G>A		47	0		39	4	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	CCDS41813.1																																																																																			.		0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		A	72024647	G	A	72024647	2	1	8	1	0	0	0	0	0	0	0	1	17681	1195	42	3		3	ZFC3H1	12	72024647	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	17060570	72024647	61827248	96	1189											
NR2C1	7181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	95416118	95416118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:95416118C>A	ENST00000333003.5	-	14	2029	c.1699G>T	c.(1699-1701)Gaa>Taa	p.E567*		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	567					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						AAAAACAATTCTTCAGTGATG	0.358																																					p.E567X		.											NR2C1,NS,carcinoma,0,1	NR2C1	0	0			c.G1699T						.						204	218	213					12																	95416118		2203	4300	6503	SO:0001587	stop_gained	7181	exon14			ACAATTCTTCAGT	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.1699G>T	12.37:g.95416118C>A	ENSP00000333275:p.Glu567*	89	0		51	7	NM_003297	A8K5K4|Q15625|Q15626	Nonsense_Mutation	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218925	0.95104	.	.	ENSG00000120798	ENST00000333003	.	.	.	5.74	4.85	0.62838	.	0.139297	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	14.9123	0.70767	0.0:0.9312:0.0:0.0688	.	.	.	.	X	567	.	ENSP00000333275:E567X	E	-	1	0	NR2C1	93940249	1.000000	0.71417	0.998000	0.56505	0.087000	0.18053	7.818000	0.86416	1.444000	0.47605	0.650000	0.86243	GAA	.		0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		A	95416118	C	A	95416118	4	1	8	1	0	0	0	0	0	1	0	0	10661	922	32	3	116	3	NR2C1	12	95416118	Nonsense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	23391471	95416118	38435777	97	1190											
SELPLG	6404	hgsc.bcm.edu;bcgsc.ca	37	12	109017495	109017495	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:109017495C>T	ENST00000550948.1	-	2	813	c.589G>A	c.(589-591)Gca>Aca	p.A197T	SELPLG_ENST00000228463.6_Missense_Mutation_p.A213T|SELPLG_ENST00000388962.3_Missense_Mutation_p.A187T			Q14242	SELPL_HUMAN	selectin P ligand	197	12 X 10 AA tandem repeats.				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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TCCATGGCTGCTGGTGCAGTG	0.617																																					p.A213T		.											.	.	.	0			c.G637A						.						161	135	144					12																	109017495		2203	4300	6503	SO:0001583	missense	6404	exon2			TGGCTGCTGGTGC		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.589G>A	12.37:g.109017495C>T	ENSP00000447752:p.Ala197Thr	88	0		67	4	NM_001206609	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697410	0.30142	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.12569	2.67;2.67;2.67	3.31	-4.57	0.03421	.	2.234190	0.02260	N	0.067461	T	0.12220	0.0297	L	0.43152	1.355	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.27123	-1.0083	10	0.31617	T	0.26	-0.2745	8.0007	0.30295	0.0:0.146:0.3819:0.4721	.	213;197;157	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	T	187;197;213	ENSP00000373614:A187T;ENSP00000447752:A197T;ENSP00000228463:A213T	ENSP00000228463:A213T	A	-	1	0	SELPLG	107541624	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.448000	0.00232	-1.189000	0.02702	-1.169000	0.01745	GCA	.		0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			T	109017495	C	T	109017495	3	4	8	1	0	0	0	0	1	0	0	0	14065	797	28	3	653	3	SELPLG	12	109017495	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	13601377	109017495	24834400	98	1191											
MED13L	23389	hgsc.bcm.edu	37	12	116422008	116422008	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:116422008G>A	ENST00000281928.3	-	20	4714	c.4508C>T	c.(4507-4509)gCg>gTg	p.A1503V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1503						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)		GCAAACTTGCGCATAAAGTTT	0.438																																					p.A1503V		.											MED13L,NS,carcinoma,0,1	MED13L	0	0			c.C4508T						.						88	69	76					12																	116422008		2203	4300	6503	SO:0001583	missense	23389	exon20			ACTTGCGCATAAA	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.4508C>T	12.37:g.116422008G>A	ENSP00000281928:p.Ala1503Val	74	1		39	2	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548263	0.86127	.	.	ENSG00000123066	ENST00000281928	T	0.71461	-0.57	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.86314	0.5903	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87922	0.2704	10	0.66056	D	0.02	.	19.2439	0.93895	0.0:0.0:1.0:0.0	.	1503	Q71F56	MD13L_HUMAN	V	1503	ENSP00000281928:A1503V	ENSP00000281928:A1503V	A	-	2	0	MED13L	114906391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.538000	0.85594	0.655000	0.94253	GCG	.		0.438	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			A	116422008	G	A	116422008	3	1	8	1	0	0	0	0	1	0	0	0	9469	1087	38	1	2172	1	MED13L	12	116422008	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	7404513	116422008	17429887	99	1192											
SETD8	387893	hgsc.bcm.edu	37	12	123879692	123879692	+	Missense_Mutation	SNP	C	C	A	rs371558123		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:123879692C>A	ENST00000402868.3	+	4	814	c.388C>A	c.(388-390)Caa>Aaa	p.Q130K	SETD8_ENST00000330479.4_Missense_Mutation_p.Q130K|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	171					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)		TTTTCCAAACCAAAAATCTGA	0.502																																					p.Q130K		.											.	.	.	0			c.C388A						.						32	32	32					12																	123879692		2203	4300	6503	SO:0001583	missense	387893	exon4			CCAAACCAAAAAT	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.388C>A	12.37:g.123879692C>A	ENSP00000384629:p.Gln130Lys	126	0		79	4	NM_020382	A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014970	0.54468	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.98164	-4.76;-4.76	5.57	5.57	0.84162	.	0.136595	0.51477	D	0.000088	D	0.96256	0.8779	L	0.50333	1.59	0.42572	D	0.993184	B;B	0.30104	0.268;0.228	B;B	0.27796	0.056;0.083	D	0.95614	0.8675	10	0.14656	T	0.56	-27.5297	17.7337	0.88386	0.0:1.0:0.0:0.0	.	171;130	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	K	130;130;121	ENSP00000384629:Q130K;ENSP00000332995:Q130K	ENSP00000332995:Q130K	Q	+	1	0	SETD8	122445645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.682000	0.61671	2.642000	0.89623	0.462000	0.41574	CAA	.		0.502	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		A	123879692	C	A	123879692	3	1	8	1	0	0	0	0	1	0	0	0	14182	595	21	3	402	3	SETD8	12	123879692	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	7457684	123879692	9972203	100	1193											
POLE	5426	hgsc.bcm.edu	37	12	133244235	133244235	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr12:133244235C>A	ENST00000320574.5	-	20	2217		c.e20-1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						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)	p.?(1)		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)	CGGCAGTAATCTAAGCACGAC	0.567								DNA polymerases (catalytic subunits)																													.		.											POLE,NS,carcinoma,0,1	POLE	0	1	Unknown(1)	breast(1)	c.2174-1G>T						.						250	207	221					12																	133244235		2203	4300	6503	SO:0001630	splice_region_variant	5426	exon21			AGTAATCTAAGCA		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.2174-1G>T	12.37:g.133244235C>A		40	0		23	3	NM_006231	Q13533|Q86VH9	Splice_Site	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568743	0.86439	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2526	0.98410	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131754308	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.770000	0.85390	2.789000	0.95967	0.558000	0.71614	.	.		0.567	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	Intron	A	133244235	C	A	133244235	5	1	8	1	0	0	0	0	0	0	1	0	12235	927	32	3	4807	3	POLE	12	133244235	Splice_Site	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	9364543	133244235	607660	101	1194											
HSPA2	3306	hgsc.bcm.edu	37	14	65008064	65008064	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr14:65008064C>T	ENST00000394709.1	+	2	573	c.497C>T	c.(496-498)aCg>aTg	p.T166M	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Missense_Mutation_p.T166M			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)	.											HSPA2,NS,carcinoma,0,1	HSPA2	0	1	Substitution - Missense(1)	endometrium(1)	c.C497T						.						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	52	1		29	2	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	.		0.662	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			T	65008064	C	T	65008064	3	4	8	1	0	0	0	0	1	0	0	0	7438	536	19	1	499	1	HSPA2	14	65008064	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		65008064	42341476	102	1195											
RYR3	6263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	33795931	33795931	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr15:33795931G>A	ENST00000389232.4	+	3	341	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	RYR3_ENST00000415757.3_Missense_Mutation_p.G91S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	91					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)		TGAAAATGGCGGCGAAGGGGT	0.483																																					p.G91S		.											RYR3,NS,carcinoma,0,1	RYR3	0	0			c.G271A						.						45	47	47					15																	33795931		1906	4128	6034	SO:0001583	missense	6263	exon3			AATGGCGGCGAAG		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.271G>A	15.37:g.33795931G>A	ENSP00000373884:p.Gly91Ser	88	0		57	13	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046216	0.36085	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98178	-4.77;-4.77	5.5	2.15	0.27550	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.399541	0.22217	N	0.063020	D	0.91408	0.7289	N	0.08118	0	0.32465	N	0.543638	B;B	0.15141	0.012;0.003	B;B	0.11329	0.006;0.001	D	0.86200	0.1618	10	0.08381	T	0.77	.	6.1512	0.20313	0.4593:0.0:0.5407:0.0	.	91;91	Q15413-2;Q15413	.;RYR3_HUMAN	S	91	ENSP00000373884:G91S;ENSP00000399610:G91S	ENSP00000354735:G91S	G	+	1	0	RYR3	31583223	0.993000	0.37304	0.922000	0.36590	0.997000	0.91878	2.530000	0.45641	0.758000	0.33059	0.655000	0.94253	GGC	.		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33795931	G	A	33795931	3	1	8	1	0	0	0	0	1	0	0	0	13815	1116	39	1	281	1	RYR3	15	33795931	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		33795931	68735461	103	1196											
TMEM85	51234	broad.mit.edu	37	15	34520740	34520740	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr15:34520740C>T	ENST00000267750.4	+	4	582	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	156					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTCCATGGGACTGTTACCTAC	0.443																																					p.L156L													.	.	.	0			c.C466T						.						238	214	222					15																	34520740		2201	4298	6499	SO:0001819	synonymous_variant	51234	exon4			ATGGGACTGTTAC	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"transmembrane protein 85"	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.466C>T	15.37:g.34520740C>T		100	0		40	3	NM_016454	A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Silent	SNP	ENST00000267750.4	37	CCDS10035.1																																																																																			.		0.443	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		T	34520740	C	T	34520740	2	4	8	1	0	0	0	0	0	0	0	1	16254	564	20	3		3	TMEM85	15	34520740	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	724809	34520740	68010652	104	1197											
RTF1	23168	hgsc.bcm.edu	37	15	41749983	41749983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr15:41749983G>T	ENST00000389629.4	+	4	583	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	191	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|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)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGGAGATGAGGAAGACAGGGC	0.478																																					p.E191X		.											.	.	.	0			c.G571T						.						164	158	160					15																	41749983		2203	4300	6503	SO:0001587	stop_gained	23168	exon4			GATGAGGAAGACA	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.571G>T	15.37:g.41749983G>T	ENSP00000374280:p.Glu191*	86	0		76	4	NM_015138	Q96BX6	Nonsense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	36	5.607040	0.96626	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-20.8349	19.7706	0.96363	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	ENSP00000374280:E191X	E	+	1	0	RTF1	39537275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.697000	0.92050	0.655000	0.94253	GAA	.		0.478	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		T	41749983	G	T	41749983	4	4	8	1	0	0	0	0	0	1	0	0	13766	1175	41	3	585	3	RTF1	15	41749983	Nonsense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	7229243	41749983	60781409	105	1198											
TSC2	7249	hgsc.bcm.edu	37	16	2100432	2100432	+	Missense_Mutation	SNP	G	G	A	rs397515042|rs397514949		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:2100432G>A	ENST00000219476.3	+	3	800	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000568454.1_Missense_Mutation_p.R68H|TSC2_ENST00000401874.2_Missense_Mutation_p.R57H|TSC2_ENST00000382538.6_Missense_Mutation_p.R8H|TSC2_ENST00000439673.2_Missense_Mutation_p.R57H|TSC2_ENST00000350773.4_Missense_Mutation_p.R57H|TSC2_ENST00000353929.4_Missense_Mutation_p.R57H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	57	Required for interaction with TSC1.				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)	p.R57H(2)		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)				CTCAACAATCGCATCCGGATG	0.468			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.R57H		.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	TSC2_ENST00000219476,rectum,carcinoma,0,2	TSC2_ENST00000219476	0	2	Substitution - Missense(2)	large_intestine(2)	c.G170A						.						90	87	88					16																	2100432		2198	4300	6498	SO:0001583	missense	7249	exon3	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ACAATCGCATCCG	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.170G>A	16.37:g.2100432G>A	ENSP00000219476:p.Arg57His	58	0		46	2	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802152	0.90538	.	.	ENSG00000103197	ENST00000219476;ENST00000432909;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773;ENST00000445113	D;D;D;T;D;D	0.89196	-2.48;-2.48;-2.48;-0.14;-2.48;-2.48	4.78	4.78	0.61160	Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.917;1.0;0.998;0.996	D	0.95241	0.8351	10	0.87932	D	0	-21.1781	17.808	0.88607	0.0:0.0:1.0:0.0	.	8;57;57;57;57;57	B4DIL8;P49815-6;B7Z2B8;P49815-4;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	H	57;8;57;57;57;8;57;68	ENSP00000219476:R57H;ENSP00000384468:R57H;ENSP00000248099:R57H;ENSP00000399232:R57H;ENSP00000371978:R8H;ENSP00000344383:R57H	ENSP00000219476:R57H	R	+	2	0	TSC2	2040433	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	8.804000	0.91921	2.195000	0.70347	0.407000	0.27541	CGC	.		0.468	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2100432	G	A	2100432	3	1	8	1	0	0	0	0	1	0	0	0	16654	1087	38	1	176	1	TSC2	16	2100432	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		2100432	88254321	106	1199											
CASKIN1	57524	hgsc.bcm.edu	37	16	2239059	2239059	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:2239059C>T	ENST00000343516.6	-	6	678	c.586G>A	c.(586-588)Gca>Aca	p.A196T		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	196					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						TTTTTAGCTGCGAGGTGCAAA	0.657																																					p.A196T		.											CASKIN1_ENST00000382453,NS,carcinoma,0,2	CASKIN1_ENST00000382453	0	0			c.G586A						.						78	85	83					16																	2239059		2091	4208	6299	SO:0001583	missense	57524	exon6			TAGCTGCGAGGTG	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.586G>A	16.37:g.2239059C>T	ENSP00000345436:p.Ala196Thr	68	0		44	2	NM_020764	Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529281	0.85706	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.81163	-1.46	3.46	3.46	0.39613	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.91047	0.7183	M	0.93550	3.43	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	D	0.93421	0.6777	9	0.87932	D	0	-9.7927	14.0324	0.64624	0.0:1.0:0.0:0.0	.	196	Q8WXD9	CSKI1_HUMAN	T	196;25	ENSP00000345436:A196T	ENSP00000345436:A196T	A	-	1	0	CASKIN1	2179060	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.734000	0.68580	1.954000	0.56735	0.561000	0.74099	GCA	.		0.657	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		T	2239059	C	T	2239059	3	4	8	1	0	0	0	0	1	0	0	0	2673	768	27	1	3769	1	CASKIN1	16	2239059	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	138627	2239059	88115694	107	1200											
KIAA0430	9665	hgsc.bcm.edu	37	16	15706433	15706433	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:15706433G>A	ENST00000396368.3	-	17	3661	c.3455C>T	c.(3454-3456)gCa>gTa	p.A1152V	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A1149V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A1149V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A754V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A1152V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A987V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1152	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				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.A1152V(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATGAGGCACTGCTTCTAATAA	0.458																																					p.A1152V		.											KIAA0430,NS,carcinoma,0,1	KIAA0430	0	1	Substitution - Missense(1)	breast(1)	c.C3455T						.						135	135	135					16																	15706433		2058	4218	6276	SO:0001583	missense	9665	exon17			GGCACTGCTTCTA	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.3455C>T	16.37:g.15706433G>A	ENSP00000379654:p.Ala1152Val	60	0		48	2	NM_014647	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	35	5.442334	0.96187	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.999;0.998	T	0.71381	-0.4610	10	0.62326	D	0.03	.	19.5965	0.95541	0.0:0.0:1.0:0.0	.	1151;1149;1148;1151	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	V	1152;987;1092;754;1149;1152;932	ENSP00000379654:A1152V;ENSP00000439819:A987V;ENSP00000341939:A754V;ENSP00000449376:A1149V;ENSP00000450309:A1152V	ENSP00000315718:A1092V	A	-	2	0	KIAA0430	15613934	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	8.951000	0.93025	2.627000	0.88993	0.643000	0.83706	GCA	.		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15706433	G	A	15706433	3	1	8	1	0	0	0	0	1	0	0	0	8204	1319	46	3	1817	3	KIAA0430	16	15706433	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	13467374	15706433	74648320	108	1201											
ABCC6	368	broad.mit.edu	37	16	16315466	16315466	+	Intron	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:16315466G>T	ENST00000205557.7	-	2	249				ABCC6_ENST00000575728.1_Silent_p.R87R|RP11-517A5.7_ENST00000574883.1_RNA|ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6						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)	TGCCTCCCCCGAACATTGCCT	0.542																																					p.R87R													.	ABCC6	110	0			c.C259A						.						22	22	22					16																	16315466		2197	4300	6497	SO:0001627	intron_variant	368	exon2			TCCCCCGAACATT	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.219+39C>A	16.37:g.16315466G>T		107	0		91	3	NM_001079528	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	CCDS10568.1																																																																																			CAC|0.500;GAA|0.500		0.542	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16315466	G	T	16315466	1	4	8	0	1	0	0	0	0	0	0	0	57	1057	37	2		2	ABCC6	16	16315466	Intron	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	609033	16315466	74039287	109	1202											
HS3ST4	9951	hgsc.bcm.edu	37	16	26147016	26147016	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:26147016G>A	ENST00000331351.5	+	2	1210	c.818G>A	c.(817-819)cGc>cAc	p.R273H	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	273					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.R273H(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GCTCCCAAGCGCATTCACTCC	0.493																																					p.R273H		.											HS3ST4,NS,carcinoma,0,1	HS3ST4	0	2	Substitution - Missense(2)	lung(2)	c.G818A						.						118	107	110					16																	26147016		1568	3582	5150	SO:0001583	missense	9951	exon2			CCAAGCGCATTCA	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.818G>A	16.37:g.26147016G>A	ENSP00000330606:p.Arg273His	58	0		35	2	NM_006040	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583926	0.86748	.	.	ENSG00000182601	ENST00000331351	T	0.60424	0.19	5.45	5.45	0.79879	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.84252	0.5431	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89234	0.3579	10	0.87932	D	0	.	18.2672	0.90055	0.0:0.0:1.0:0.0	.	273	Q9Y661	HS3S4_HUMAN	H	273	ENSP00000330606:R273H	ENSP00000330606:R273H	R	+	2	0	HS3ST4	26054517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.823000	0.86660	2.555000	0.86185	0.655000	0.94253	CGC	.		0.493	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		A	26147016	G	A	26147016	3	1	8	1	0	0	0	0	1	0	0	0	7394	1087	38	1	824	1	HS3ST4	16	26147016	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	9831550	26147016	64207737	110	1203											
CTCF	10664	hgsc.bcm.edu	37	16	67650656	67650657	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:67650656_67650657insCT	ENST00000264010.4	+	5	1405_1406	c.961_962insCT	c.(961-963)cctfs	p.P321fs	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_5'UTR	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	321					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGGTACTCGTCCTCACAAGTGC	0.495																																					p.P321fs	Colon(175;1200 1966 6945 23069 27405)	.											.	.	.	0			c.961_962insCT						.																																			SO:0001589	frameshift_variant	10664	exon5			ACTCGTCCTCACA	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.962_963dupCT	16.37:g.67650657_67650658dupCT	ENSP00000264010:p.Pro321fs	64	0		48	13	NM_006565	B5MC38|Q53XI7|Q59EL8	Frame_Shift_Ins	INS	ENST00000264010.4	37	CCDS10841.1																																																																																			.		0.495	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		CT	67650657	-	CT	67650656	7	5	8	1	0	1	1	0	0	0	0	0	4009	855	30	0	971	0	CTCF	16	67650656	Frame_Shift_Ins	INS	-	TCGA-W5-AA2G-01A-11D-A417-09	41503640	67650656	22704097	111	1204											
RLTPR	146206	hgsc.bcm.edu	37	16	67681421	67681421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:67681421C>T	ENST00000334583.6	+	11	1115	c.787C>T	c.(787-789)Cga>Tga	p.R263*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.R263*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	263					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGACTTTGTCCGACGACTGGC	0.652																																					p.R263X		.											.	.	.	0			c.C787T						.						17	23	21					16																	67681421		1948	4119	6067	SO:0001587	stop_gained	146206	exon11			TTTGTCCGACGAC	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.787C>T	16.37:g.67681421C>T	ENSP00000334958:p.Arg263*	79	0		80	4	NM_001013838	B8X2Z3	Nonsense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	36	5.907449	0.97093	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	.	.	.	5.22	3.2	0.36748	.	0.452267	0.21430	N	0.074676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-13.1802	6.1411	0.20261	0.3484:0.5634:0.0:0.0882	.	.	.	.	X	263	.	ENSP00000334958:R263X	R	+	1	2	RLTPR	66238922	0.039000	0.19947	1.000000	0.80357	0.970000	0.65996	1.120000	0.31271	0.526000	0.28541	0.563000	0.77884	CGA	.		0.652	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67681421	C	T	67681421	4	4	8	1	0	0	0	0	0	1	0	0	13439	644	23	1	829	1	RLTPR	16	67681421	Nonsense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	30765	67681421	22673332	112	1205											
SMPD3	55512	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	68395639	68395639	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:68395639C>T	ENST00000219334.5	-	8	2336	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	SMPD3_ENST00000568373.1_Intron|SMPD3_ENST00000563226.1_Missense_Mutation_p.R570H|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	578					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTACTCCCTGCGGCCCTCCTC	0.672																																					p.R578H		.											.	.	.	0			c.G1733A						.						45	34	38					16																	68395639		2198	4300	6498	SO:0001583	missense	55512	exon8			TCCCTGCGGCCCT	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1733G>A	16.37:g.68395639C>T	ENSP00000219334:p.Arg578His	67	0		66	4	NM_018667	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719307	0.68844	.	.	ENSG00000103056	ENST00000219334	.	.	.	5.6	5.6	0.85130	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.983;1.0	P;D	0.91635	0.721;0.999	T	0.79125	-0.1932	9	0.87932	D	0	-27.0255	17.0961	0.86635	0.0:1.0:0.0:0.0	.	570;578	B7ZL82;Q9NY59	.;NSMA2_HUMAN	H	578	.	ENSP00000219334:R578H	R	-	2	0	SMPD3	66953140	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.295000	0.78780	2.653000	0.90120	0.561000	0.74099	CGC	.		0.672	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		T	68395639	C	T	68395639	3	4	8	1	0	0	0	0	1	0	0	0	14851	768	27	1	242	1	SMPD3	16	68395639	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	714218	68395639	21959114	113	1206											
ZNF821	55565	bcgsc.ca	37	16	71894006	71894006	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr16:71894006T>C	ENST00000565601.1	-	7	1561	c.1154A>G	c.(1153-1155)cAg>cGg	p.Q385R	ZNF821_ENST00000425432.1_Missense_Mutation_p.Q385R|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.Q343R|ZNF821_ENST00000446827.2_Missense_Mutation_p.Q343R|ZNF821_ENST00000564134.1_3'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TACAGGCAGCTGGAAGAAGTT	0.547																																					p.Q385R													.	ZNF821	25	0			c.A1154G						.						71	59	63					16																	71894006		2198	4300	6498	SO:0001583	missense	55565	exon7			GGCAGCTGGAAGA	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.1154A>G	16.37:g.71894006T>C	ENSP00000455648:p.Gln385Arg	31	0		17	3	NM_001201553	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429009	0.62844	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01613	6.34;4.73;4.73	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.02267	0.0070	N	0.19112	0.55	0.48341	D	0.999635	D;P;D	0.55385	0.971;0.718;0.971	P;B;P	0.45712	0.491;0.277;0.491	T	0.63563	-0.6609	10	0.87932	D	0	-19.1509	13.2153	0.59856	0.0:0.0:0.1324:0.8676	.	385;343;385	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	R	385;343;343	ENSP00000398089:Q385R;ENSP00000313822:Q343R;ENSP00000405908:Q343R	ENSP00000313822:Q343R	Q	-	2	0	ZNF821	70451507	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.731000	0.62022	2.367000	0.80283	0.528000	0.53228	CAG	.		0.547	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		C	71894006	T	C	71894006	3	2	8	1	0	0	0	0	1	0	0	0	18226	1580	55	4	88	4	ZNF821	16	71894006	Missense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	3498367	71894006	18460747	114	1207											
ZNF18	7566	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	11896084	11896084	+	Silent	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:11896084G>A	ENST00000322748.3	-	4	667	c.63C>T	c.(61-63)tcC>tcT	p.S21S	ZNF18_ENST00000580306.2_Silent_p.S21S|ZNF18_ENST00000454073.3_Silent_p.S21S	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	21					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(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTGAGAACTGGGAGTCCTCGG	0.577																																					p.S21S													.	ZNF18	42	0			c.C63T						.						58	54	56					17																	11896084		2203	4300	6503	SO:0001819	synonymous_variant	7566	exon4			GAACTGGGAGTCC	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.63C>T	17.37:g.11896084G>A		63	1		31	4	NM_144680	Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	ENST00000322748.3	37	CCDS32568.1																																																																																			.		0.577	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		A	11896084	G	A	11896084	2	1	8	1	0	0	0	0	0	0	0	1	17795	1219	43	3		3	ZNF18	17	11896084	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		11896084	69299126	115	1208											
ALDH3A1	218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	19645434	19645434	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:19645434C>G	ENST00000457500.2	-	4	901	c.572G>C	c.(571-573)gGg>gCg	p.G191A	ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G191A|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G118A|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G191A|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G191A	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	191					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)		CTTCCCCACCCCCGTGCTGCC	0.587																																					p.G191A		.											.	.	.	0			c.G572C						.						162	110	128					17																	19645434		2203	4300	6503	SO:0001583	missense	218	exon4			CCCACCCCCGTGC	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.572G>C	17.37:g.19645434C>G	ENSP00000411821:p.Gly191Ala	16	0		14	6	NM_001135168	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	0.489	-0.876164	0.02550	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	4.49	-1.38	0.09027	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.502887	0.21704	N	0.070364	T	0.49423	0.1556	N	0.00750	-1.22	0.09310	N	1	B;B;B	0.19200	0.0;0.034;0.0	B;B;B	0.17722	0.001;0.019;0.001	T	0.52245	-0.8601	10	0.02654	T	1	.	12.0321	0.53403	0.0:0.3236:0.5938:0.0826	.	191;308;191	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	A	191;191;249;191;191;118;191;191	ENSP00000225740:G191A;ENSP00000378923:G191A;ENSP00000388469:G191A;ENSP00000411821:G191A;ENSP00000389766:G191A	ENSP00000225740:G191A	G	-	2	0	ALDH3A1	19586026	0.000000	0.05858	0.000000	0.03702	0.775000	0.43874	0.492000	0.22435	-0.122000	0.11766	0.462000	0.41574	GGG	.		0.587	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		G	19645434	C	G	19645434	3	3	8	1	0	0	0	0	1	0	0	0	497	623	22	5	817	5	ALDH3A1	17	19645434	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	7749350	19645434	61549776	116	1209											
C17orf78	284099	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	35746204	35746204	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:35746204G>T	ENST00000300618.4	+	6	707	c.657G>T	c.(655-657)aaG>aaT	p.K219N	ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|RP11-378E13.3_ENST00000592238.1_RNA|C17orf78_ENST00000586700.1_Missense_Mutation_p.A139S|ACACA_ENST00000589665.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	219						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)				GAGCCAGGAAGCTGTGCCAAT	0.502																																					p.K219N		.											.	.	.	0			c.G657T						.						46	47	47					17																	35746204		1973	4164	6137	SO:0001583	missense	284099	exon6			CAGGAAGCTGTGC	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.657G>T	17.37:g.35746204G>T	ENSP00000300618:p.Lys219Asn	33	0		29	4	NM_173625	Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	CCDS45655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.03|14.03	2.413976|2.413976	0.42817|0.42817	.|.	.|.	ENSG00000167230|ENSG00000167230	ENST00000321564|ENST00000300618	.|T	.|0.49139	.|0.79	4.89|4.89	0.276|0.276	0.15663|0.15663	.|.	.|1.777860	.|0.02641	.|N	.|0.105352	T|T	0.26882|0.26882	0.0658|0.0658	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.30937|0.06786	0.301|0.001	B|B	0.27715|0.04013	0.082|0.001	T|T	0.16364|0.16364	-1.0405|-1.0405	8|10	0.15499|0.38643	T|T	0.54|0.18	0.541|0.541	3.253|3.253	0.06822|0.06822	0.3119:0.0:0.5058:0.1822|0.3119:0.0:0.5058:0.1822	.|.	139|219	Q8N4C9-2|Q8N4C9	.|CQ078_HUMAN	S|N	139|219	.|ENSP00000300618:K219N	ENSP00000318689:A139S|ENSP00000300618:K219N	A|K	+|+	1|3	0|2	C17orf78|C17orf78	32820317|32820317	0.002000|0.002000	0.14202|0.14202	0.332000|0.332000	0.25469|0.25469	0.558000|0.558000	0.35554|0.35554	-0.069000|-0.069000	0.11542|0.11542	0.331000|0.331000	0.23511|0.23511	0.650000|0.650000	0.86243|0.86243	GCT|AAG	.		0.502	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		T	35746204	G	T	35746204	3	4	8	1	0	0	0	0	1	0	0	0	1889	962	34	3	679	3	C17orf78	17	35746204	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	16100770	35746204	45449006	117	1210											
GSDMA	284110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38128387	38128387	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:38128387C>A	ENST00000301659.4	+	6	779	c.661C>A	c.(661-663)Cca>Aca	p.P221T		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	221					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CACAGATATTCCACATATCTG	0.517																																					p.P221T		.											.	.	.	0			c.C661A						.						40	37	38					17																	38128387		1831	4075	5906	SO:0001583	missense	284110	exon6			GATATTCCACATA	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.661C>A	17.37:g.38128387C>A	ENSP00000301659:p.Pro221Thr	58	0		42	12	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918420	0.52546	.	.	ENSG00000167914	ENST00000301659	T	0.21543	2.0	5.72	5.72	0.89469	.	0.410869	0.23573	N	0.046724	T	0.44456	0.1294	M	0.68317	2.08	0.37531	D	0.917934	D	0.89917	1.0	D	0.75484	0.986	T	0.32877	-0.9890	10	0.35671	T	0.21	-19.718	15.3863	0.74703	0.0:1.0:0.0:0.0	.	221	Q96QA5	GSDMA_HUMAN	T	221	ENSP00000301659:P221T	ENSP00000301659:P221T	P	+	1	0	GSDMA	35381913	0.865000	0.29922	0.786000	0.31890	0.648000	0.38561	3.521000	0.53472	2.711000	0.92665	0.655000	0.94253	CCA	.		0.517	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		A	38128387	C	A	38128387	3	1	8	1	0	0	0	0	1	0	0	0	6843	855	30	3	679	3	GSDMA	17	38128387	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	2382183	38128387	43066823	118	1211											
GHDC	84514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40344493	40344493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:40344493C>A	ENST00000301671.8	-	4	1096	c.655G>T	c.(655-657)Gag>Tag	p.E219*	GHDC_ENST00000593209.1_Nonsense_Mutation_p.E219*|GHDC_ENST00000428494.2_Nonsense_Mutation_p.E180*|GHDC_ENST00000587427.1_Nonsense_Mutation_p.E219*|GHDC_ENST00000436923.2_Nonsense_Mutation_p.E219*|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000414034.3_Nonsense_Mutation_p.E219*			Q8N2G8	GHDC_HUMAN	GH3 domain containing	219						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCAGCTAGCTCTTCACCATCA	0.662																																					p.E219X		.											.	.	.	0			c.G655T						.						84	97	93					17																	40344493		2203	4298	6501	SO:0001587	stop_gained	84514	exon5			CTAGCTCTTCACC	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.655G>T	17.37:g.40344493C>A	ENSP00000301671:p.Glu219*	51	0		36	10	NM_001142623	B4DQS4|E9PDB5|Q9BXM6	Nonsense_Mutation	SNP	ENST00000301671.8	37	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060271	0.76074	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.52	3.48	0.39840	.	0.087618	0.43919	D	0.000519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-6.2613	8.8943	0.35453	0.0:0.8853:0.0:0.1147	.	.	.	.	X	163;180;219;219;219	.	ENSP00000301671:E219X	E	-	1	0	GHDC	37598019	0.023000	0.18921	0.937000	0.37676	0.084000	0.17831	2.007000	0.40883	0.996000	0.38943	0.561000	0.74099	GAG	.		0.662	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		A	40344493	C	A	40344493	4	1	8	1	0	0	0	0	0	1	0	0	6395	922	32	3	1050	3	GHDC	17	40344493	Nonsense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	2216106	40344493	40850717	119	1212											
PLEKHH3	79990	hgsc.bcm.edu;broad.mit.edu	37	17	40823452	40823452	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:40823452G>A	ENST00000591022.1	-	8	1588	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R401W|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.R401W|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	401					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGCTCCTGCCGTTGGCTCAAC	0.672																																					p.R401W		.											PLEKHH3,colon,carcinoma,0,1	PLEKHH3	0	0			c.C1201T						.						33	29	31					17																	40823452		2202	4299	6501	SO:0001583	missense	79990	exon8			CCTGCCGTTGGCT	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1201C>T	17.37:g.40823452G>A	ENSP00000468678:p.Arg401Trp	90	0		52	3	NM_024927	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721684	0.68959	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	T;T	0.75260	-0.92;-0.92	4.84	1.56	0.23342	Band 4.1 domain (1);	0.000000	0.41396	D	0.000887	T	0.81336	0.4801	M	0.67397	2.05	0.41884	D	0.990335	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.78725	-0.2092	10	0.87932	D	0	-23.2388	7.3521	0.26697	0.0772:0.0:0.4713:0.4516	.	401;401	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	W	63;401;401	ENSP00000293349:R401W;ENSP00000411885:R401W	ENSP00000293349:R401W	R	-	1	2	PLEKHH3	38076978	0.861000	0.29849	0.934000	0.37439	0.663000	0.39108	1.408000	0.34668	0.074000	0.16767	0.561000	0.74099	CGG	.		0.672	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		A	40823452	G	A	40823452	3	1	8	1	0	0	0	0	1	0	0	0	12117	1144	40	1	1204	1	PLEKHH3	17	40823452	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	478959	40823452	40371758	120	1213											
BRCA1	672	hgsc.bcm.edu	37	17	41219699	41219699	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:41219699T>G	ENST00000357654.3	-	16	5118	c.5000A>C	c.(4999-5001)aAg>aCg	p.K1667T	BRCA1_ENST00000493795.1_Missense_Mutation_p.K1620T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.K563T|BRCA1_ENST00000591534.1_Missense_Mutation_p.K158T|BRCA1_ENST00000351666.3_Missense_Mutation_p.K484T|BRCA1_ENST00000352993.3_Missense_Mutation_p.K525T|BRCA1_ENST00000471181.2_Missense_Mutation_p.K1688T|BRCA1_ENST00000468300.1_Missense_Mutation_p.K563T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.K1371T|BRCA1_ENST00000346315.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1667	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				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)		TCTGGCAAACTTGTACACGAG	0.343			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.K1688T		.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	BRCA1,NS,carcinoma,0,1	BRCA1	0	0			c.A5063C						.						122	118	119					17																	41219699		2202	4300	6502	SO:0001583	missense	672	exon17	Familial Cancer Database		GCAAACTTGTACA	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.5000A>C	17.37:g.41219699T>G	ENSP00000350283:p.Lys1667Thr	47	0		42	2	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457817	0.43634	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	T;T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.24	4.16	0.48862	BRCT (4);	0.000000	0.53938	D	0.000051	D	0.87997	0.6319	M	0.79926	2.475	0.37050	D	0.897536	D;D;D;D;D;D;D;D	0.76494	0.997;0.958;0.994;0.997;0.974;0.997;0.988;0.999	D;P;D;D;D;D;P;D	0.79108	0.983;0.88;0.964;0.965;0.964;0.992;0.906;0.987	D	0.89266	0.3601	10	0.87932	D	0	-12.5409	8.0086	0.30340	0.0:0.0935:0.0:0.9065	.	563;516;562;564;563;1689;1667;1667	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	T	1667;1688;525;484;1371;563;516;1689;1620;562;563;438;517	ENSP00000350283:K1667T;ENSP00000312236:K525T;ENSP00000338007:K484T;ENSP00000310938:K1371T;ENSP00000417148:K563T;ENSP00000377294:K516T;ENSP00000418775:K1620T;ENSP00000420412:K563T;ENSP00000419481:K438T;ENSP00000418819:K517T	ENSP00000310938:K1371T	K	-	2	0	BRCA1	38473225	1.000000	0.71417	0.982000	0.44146	0.304000	0.27724	2.884000	0.48562	0.937000	0.37394	0.454000	0.30748	AAG	.		0.343	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		G	41219699	T	G	41219699	3	3	8	1	0	0	0	0	1	0	0	0	1502	1609	56	4	623	4	BRCA1	17	41219699	Missense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	396247	41219699	39975511	121	1214											
UBTF	7343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	42294007	42294007	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:42294007C>A	ENST00000302904.4	-	3	616	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.D42Y|UBTF_ENST00000343638.5_Missense_Mutation_p.D42Y|UBTF_ENST00000436088.1_Missense_Mutation_p.D42Y|UBTF_ENST00000526094.1_Missense_Mutation_p.D42Y|UBTF_ENST00000393606.3_Missense_Mutation_p.D42Y|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000529383.1_Missense_Mutation_p.D42Y|UBTF_ENST00000533177.1_Missense_Mutation_p.D42Y			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	42					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)		TTGGAGCTGTCATTGGATGGA	0.463																																					p.D42Y		.											.	.	.	0			c.G124T						.						200	182	188					17																	42294007		2203	4300	6503	SO:0001583	missense	7343	exon3			AGCTGTCATTGGA	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.124G>T	17.37:g.42294007C>A	ENSP00000302640:p.Asp42Tyr	61	0		47	12	NM_014233	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	23.4	4.415376	0.83449	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;T	0.99311	-5.63;-4.83;-5.73;-5.63;-4.83;-5.63;-5.63;-4.83;-0.04	3.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.98816	1.0745	10	0.87932	D	0	-29.0933	15.5339	0.75986	0.0:1.0:0.0:0.0	.	42;42;42	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	Y	42	ENSP00000345297:D42Y;ENSP00000302640:D42Y;ENSP00000431539:D42Y;ENSP00000437180:D42Y;ENSP00000390669:D42Y;ENSP00000377231:D42Y;ENSP00000432925:D42Y;ENSP00000435708:D42Y;ENSP00000433046:D42Y	ENSP00000302640:D42Y	D	-	1	0	UBTF	39649533	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.588000	0.82629	2.056000	0.61249	0.555000	0.69702	GAC	.		0.463	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		A	42294007	C	A	42294007	3	1	8	1	0	0	0	0	1	0	0	0	16958	826	29	3	2246	3	UBTF	17	42294007	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	1074308	42294007	38901203	122	1215											
SPATA20	64847	bcgsc.ca	37	17	48625960	48625960	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:48625960C>A	ENST00000356488.4	+	3	377	c.294C>A	c.(292-294)aaC>aaA	p.N98K	SPATA20_ENST00000006658.6_Missense_Mutation_p.N114K|SPATA20_ENST00000393244.3_Missense_Mutation_p.N54K|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	98					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)			GGAAGGAAAACAAGCCGATTT	0.642																																					p.N114K													.	SPATA20	59	0			c.C342A						.						80	91	87					17																	48625960		2203	4300	6503	SO:0001583	missense	64847	exon4			GGAAAACAAGCCG		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.294C>A	17.37:g.48625960C>A	ENSP00000348878:p.Asn98Lys	74	0		55	4	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350880	0.61183	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.50277	0.75;0.75;0.75	4.59	3.59	0.41128	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.152960	0.56097	D	0.000021	T	0.58323	0.2114	M	0.90759	3.145	0.45354	D	0.998349	P;P;P	0.48350	0.792;0.834;0.909	P;B;B	0.47251	0.542;0.407;0.355	T	0.65952	-0.6043	10	0.54805	T	0.06	-17.0743	9.0329	0.36269	0.0:0.8324:0.0:0.1676	.	98;98;114	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	K	114;98;54	ENSP00000006658:N114K;ENSP00000348878:N98K;ENSP00000376935:N54K	ENSP00000006658:N114K	N	+	3	2	SPATA20	45980959	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	1.623000	0.37008	2.368000	0.80403	0.561000	0.74099	AAC	.		0.642	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		A	48625960	C	A	48625960	3	1	8	1	0	0	0	0	1	0	0	0	15053	477	17	3	356	3	SPATA20	17	48625960	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	6331953	48625960	32569250	123	1216											
PCTP	58488	hgsc.bcm.edu	37	17	53852193	53852193	+	Silent	SNP	G	G	T	rs371579881		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr17:53852193G>T	ENST00000268896.5	+	5	677	c.552G>T	c.(550-552)ccG>ccT	p.P184P	PCTP_ENST00000573500.1_Silent_p.P184P|PCTP_ENST00000325214.6_Silent_p.P112P|PCTP_ENST00000576183.1_Silent_p.P184P|PCTP_ENST00000576221.1_3'UTR	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	184	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			GCCAAATTCCGTCCTGGCTCA	0.498																																					p.P184P		.											PCTP,NS,malignant_melanoma,+1,1	PCTP	+1	0			c.G552T						.						87	86	86					17																	53852193		2203	4300	6503	SO:0001819	synonymous_variant	58488	exon5			AATTCCGTCCTGG	AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"StAR-related lipid transfer (START) domain containing"	8752	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 2"	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.552G>T	17.37:g.53852193G>T		78	0		66	4	NM_021213	Q9BSC9|Q9UIT3|Q9UKW7	Silent	SNP	ENST00000268896.5	37	CCDS11588.1																																																																																			.		0.498	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213		T	53852193	G	T	53852193	2	4	8	1	0	0	0	0	0	0	0	1	11646	1132	40	2		2	PCTP	17	53852193	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	5226233	53852193	27343017	124	1217											
KIAA0802	23255	hgsc.bcm.edu	37	18	8718506	8718506	+	Silent	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr18:8718506C>A	ENST00000306329.11	+	2	1138	c.1138C>A	c.(1138-1140)Cgg>Agg	p.R380R	Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000400050.3_Silent_p.R20R|SOGA2_ENST00000359865.3_Silent_p.R20R|SOGA2_ENST00000517570.1_Silent_p.R20R|SOGA2_ENST00000306285.7_5'UTR																							GCAGGAACTTCGGCGAGAACT	0.488																																					p.R20R		.											CCDC165,NS,malignant_melanoma,0,1	CCDC165	0	0			c.C58A						.						107	100	103					18																	8718506		2203	4300	6503	SO:0001819	synonymous_variant	23255	exon3			GAACTTCGGCGAG																												ENST00000306329.11:c.1138C>A	18.37:g.8718506C>A		58	0		32	2	NM_015210		Silent	SNP	ENST00000306329.11	37																																																																																				.		0.488	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			A	8718506	C	A	8718506	2	1	8	1	0	0	0	0	0	0	0	1	8221	875	31	2		2	KIAA0802	18	8718506	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		8718506	69358742	125	1218											
LPHN1	22859	bcgsc.ca	37	19	14267774	14267774	+	Missense_Mutation	SNP	C	C	T	rs560004956		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:14267774C>T	ENST00000340736.6	-	16	3241	c.2944G>A	c.(2944-2946)Gct>Act	p.A982T	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.A977T	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	982					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						TCAATGGCAGCCGCGATGCCC	0.627																																					p.A982T													.	LPHN1	107	0			c.G2944A						.						47	38	41					19																	14267774		2202	4300	6502	SO:0001583	missense	22859	exon16			TGGCAGCCGCGAT	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.2944G>A	19.37:g.14267774C>T	ENSP00000340688:p.Ala982Thr	63	0		46	4	NM_001008701	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426772	0.62733	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.37058	1.22;1.22	4.83	3.79	0.43588	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.60455	1.87	0.58432	D	0.999991	P;P	0.50066	0.454;0.931	B;P	0.49085	0.347;0.6	T	0.42310	-0.9459	10	0.87932	D	0	.	11.1369	0.48378	0.0:0.9088:0.0:0.0912	.	977;982	O94910-2;O94910	.;LPHN1_HUMAN	T	982;977	ENSP00000340688:A982T;ENSP00000355328:A977T	ENSP00000340688:A982T	A	-	1	0	LPHN1	14128774	1.000000	0.71417	0.058000	0.19502	0.828000	0.46876	5.992000	0.70609	1.164000	0.42652	0.561000	0.74099	GCT	.		0.627	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14267774	C	T	14267774	3	4	8	1	0	0	0	0	1	0	0	0	8950	739	26	3	1516	3	LPHN1	19	14267774	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09		14267774	44861209	126	1219											
SLC1A6	6511	broad.mit.edu;bcgsc.ca	37	19	15063766	15063766	+	Silent	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:15063766C>T	ENST00000221742.3	-	8	1480	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	SLC1A6_ENST00000600144.1_Silent_p.T413T|SLC1A6_ENST00000430939.2_Silent_p.T427T	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	491					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						CAATGATGAGCGTGATGTCTT	0.607																																					p.T491T													.	SLC1A6	111	0			c.G1473A						.						199	150	167					19																	15063766		2203	4300	6503	SO:0001819	synonymous_variant	6511	exon8			GATGAGCGTGATG		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.1473G>A	19.37:g.15063766C>T		28	0		7	3	NM_005071	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																			.		0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15063766	C	T	15063766	2	4	8	1	0	0	0	0	0	0	0	1	14481	755	27	1		1	SLC1A6	19	15063766	Silent	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	795992	15063766	44065217	127	1220											
OR10H4	126541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	16060302	16060302	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:16060302C>T	ENST00000322107.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	162						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						ATGGTGACAACGATAGTTTTC	0.502																																					p.T162M		.											.	.	.	0			c.C485T						.						241	202	215					19																	16060302		2203	4300	6503	SO:0001583	missense	126541	exon1			TGACAACGATAGT	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.485C>T	19.37:g.16060302C>T	ENSP00000318834:p.Thr162Met	68	0		37	10	NM_001004465	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	N	2.045	-0.419112	0.04766	.	.	ENSG00000176231	ENST00000322107	T	0.00265	8.39	1.53	-1.37	0.09056	GPCR, rhodopsin-like superfamily (1);	1.568010	0.04672	N	0.410809	T	0.00210	0.0006	L	0.56199	1.76	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.35748	-0.9776	10	0.40728	T	0.16	.	6.7009	0.23225	0.0:0.4541:0.0:0.5459	.	162	Q8NGA5	O10H4_HUMAN	M	162	ENSP00000318834:T162M	ENSP00000318834:T162M	T	+	2	0	OR10H4	15921302	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-4.231000	0.00269	-1.400000	0.02061	-1.523000	0.00931	ACG	.		0.502	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			T	16060302	C	T	16060302	3	4	8	1	0	0	0	0	1	0	0	0	10947	536	19	1	487	1	OR10H4	19	16060302	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	996536	16060302	43068681	128	1221											
ZNF43	7594	hgsc.bcm.edu	37	19	21991811	21991811	+	Missense_Mutation	SNP	G	G	T	rs149679417		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:21991811G>T	ENST00000354959.4	-	4	1197	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K|ZNF43_ENST00000594012.1_Missense_Mutation_p.T337K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	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)			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)		TTCTTCACATGTGTAGGGTTT	0.383																																					p.T352K		.											ZNF43,NS,carcinoma,0,2	ZNF43	0	0			c.C1055A						.																																			SO:0001583	missense	7594	exon4			TCACATGTGTAGG	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.1028C>A	19.37:g.21991811G>T	ENSP00000347045:p.Thr343Lys	51	1		43	3	NM_001256653	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.412760	0.00191	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.35973	1.28	1.76	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34625	-0.9821	9	0.02654	T	1	.	8.658	0.34075	0.0:0.0:0.6228:0.3772	.	343	P17038	ZNF43_HUMAN	K	342;343	ENSP00000347045:T343K	ENSP00000347045:T343K	T	-	2	0	ZNF43	21783651	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.438000	0.01017	-0.689000	0.05149	-0.856000	0.03024	ACA	.		0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		T	21991811	G	T	21991811	3	4	8	1	0	0	0	0	1	0	0	0	17951	1377	48	3	1405	3	ZNF43	19	21991811	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	5931509	21991811	37137172	129	1222											
ZNF546	339327	bcgsc.ca	37	19	40520472	40520472	+	Missense_Mutation	SNP	G	G	A	rs199852460		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:40520472G>A	ENST00000347077.4	+	7	1511	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	ZNF546_ENST00000600094.1_Missense_Mutation_p.R406H|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	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)|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)					GCTCGACATCGTAGAATTCAT	0.388																																					p.R432H													ZNF546,NS,carcinoma,0,2	ZNF546	93	0			c.G1295A						.						48	51	50					19																	40520472		2203	4299	6502	SO:0001583	missense	339327	exon7			GACATCGTAGAAT	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.1295G>A	19.37:g.40520472G>A	ENSP00000339823:p.Arg432His	51	0		43	4	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.172	0.791803	0.16258	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07688	3.17	2.69	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06508	0.0167	L	0.31120	0.905	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.0	T	0.36648	-0.9739	9	0.49607	T	0.09	.	6.2676	0.20936	0.7535:0.0:0.2465:0.0	.	406;432	B3KVL3;Q86UE3	.;ZN546_HUMAN	H	432;69	ENSP00000339823:R432H	ENSP00000339823:R432H	R	+	2	0	ZNF546	45212312	0.000000	0.05858	0.619000	0.29118	0.984000	0.73092	-0.310000	0.08135	0.007000	0.14760	-0.254000	0.11334	CGT	.		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		A	40520472	G	A	40520472	3	1	8	1	0	0	0	0	1	0	0	0	18026	1145	40	1	1313	1	ZNF546	19	40520472	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	18528661	40520472	18608511	130	1223											
PSG6	5675	hgsc.bcm.edu	37	19	43421937	43421937	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:43421937G>A	ENST00000292125.2	-	1	52	c.8C>T	c.(7-9)cCc>cTc	p.P3L	PSG6_ENST00000402603.4_Missense_Mutation_p.P3L|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.P3L	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	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)				GGCTGAGAGGGGTCCCATGGT	0.602																																					p.P3L		.											.	.	.	0			c.C8T						.						139	118	125					19																	43421937		2201	4300	6501	SO:0001583	missense	5675	exon1			GAGAGGGGTCCCA		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.8C>T	19.37:g.43421937G>A	ENSP00000292125:p.Pro3Leu	122	0		75	4	NM_001031850	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	g	5.961	0.361349	0.11296	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.29142	1.58;1.92;1.61	1.47	0.359	0.16088	.	.	.	.	.	T	0.24198	0.0586	L	0.59912	1.85	0.09310	N	1	B;B;B	0.15719	0.006;0.005;0.014	B;B;B	0.19946	0.009;0.018;0.027	T	0.30995	-0.9959	9	0.22109	T	0.4	.	3.3746	0.07233	0.3027:0.0:0.6973:0.0	.	3;3;3	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	L	3	ENSP00000187910:P3L;ENSP00000385736:P3L;ENSP00000292125:P3L	ENSP00000187910:P3L	P	-	2	0	PSG6	48113777	0.002000	0.14202	0.058000	0.19502	0.028000	0.11728	0.042000	0.13949	0.157000	0.19338	0.194000	0.17425	CCC	.		0.602	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		A	43421937	G	A	43421937	3	1	8	1	0	0	0	0	1	0	0	0	12701	1232	43	3	1362	3	PSG6	19	43421937	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	2901465	43421937	15707046	131	1224											
RUVBL2	10856	broad.mit.edu;bcgsc.ca	37	19	49518928	49518928	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:49518928C>A	ENST00000595090.1	+	14	1815	c.1351C>A	c.(1351-1353)Ctc>Atc	p.L451I	CTB-60B18.10_ENST00000600007.1_lincRNA|RUVBL2_ENST00000413176.2_Missense_Mutation_p.L406I|RUVBL2_ENST00000601968.1_3'UTR	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	451					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGACGCCTTCCTCTTCAACGA	0.587																																					p.L451I													.	RUVBL2	31	0			c.C1351A						.						84	90	88					19																	49518928		2101	4216	6317	SO:0001583	missense	10856	exon14			GCCTTCCTCTTCA	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.1351C>A	19.37:g.49518928C>A	ENSP00000473172:p.Leu451Ile	28	0		18	3	NM_006666	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782672	0.16189	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.47869	0.83	5.13	4.09	0.47781	.	0.075647	0.56097	D	0.000037	T	0.27933	0.0688	N	0.25957	0.775	0.54753	D	0.99998	B	0.02656	0.0	B	0.09377	0.004	T	0.06770	-1.0808	10	0.08599	T	0.76	-33.9841	6.9389	0.24483	0.1719:0.7386:0.0:0.0895	.	451	Q9Y230	RUVB2_HUMAN	I	451;406	ENSP00000413890:L406I	ENSP00000221413:L451I	L	+	1	0	RUVBL2	54210740	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.048000	0.49862	1.294000	0.44707	0.561000	0.74099	CTC	.		0.587	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			A	49518928	C	A	49518928	3	1	8	1	0	0	0	0	1	0	0	0	13798	681	24	3	1405	3	RUVBL2	19	49518928	Missense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	6096991	49518928	9610055	132	1225											
NLRP8	126205	hgsc.bcm.edu	37	19	56477640	56477640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr19:56477640C>T	ENST00000291971.3	+	5	2346	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.Q759*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	759					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)		GACGGGGAACCAGCATCTGAG	0.527																																					p.Q759X		.											.	.	.	0			c.C2275T						.						181	160	167					19																	56477640		2203	4300	6503	SO:0001587	stop_gained	126205	exon5			GGGAACCAGCATC	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.2275C>T	19.37:g.56477640C>T	ENSP00000291971:p.Gln759*	87	0		88	4	NM_176811	Q7RTR4	Nonsense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721705	0.68959	.	.	ENSG00000179709	ENST00000291971	.	.	.	1.82	-3.65	0.04502	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.0317	0.01540	0.1824:0.3967:0.1602:0.2607	.	.	.	.	X	759	.	ENSP00000291971:Q759X	Q	+	1	0	NLRP8	61169452	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.091000	0.03369	-1.581000	0.01642	-3.398000	0.00039	CAG	.		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56477640	C	T	56477640	4	4	8	1	0	0	0	0	0	1	0	0	10522	595	21	3	2293	3	NLRP8	19	56477640	Nonsense_Mutation	SNP	C	TCGA-W5-AA2G-01A-11D-A417-09	6958712	56477640	2651343	133	1226											
RALGAPB	57148	hgsc.bcm.edu;broad.mit.edu	37	20	37191223	37191223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr20:37191223G>T	ENST00000262879.6	+	24	3864	c.3580G>T	c.(3580-3582)Gaa>Taa	p.E1194*	RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.E972*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.E1190*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.E1194*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1194	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACATTTCCTAGAATTTTTGCT	0.393																																					p.E1194X		.											.	.	.	0			c.G3580T						.						139	128	132					20																	37191223		2203	4300	6503	SO:0001587	stop_gained	57148	exon24			TTCCTAGAATTTT	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3580G>T	20.37:g.37191223G>T	ENSP00000262879:p.Glu1194*	106	0		67	4	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	49	15.150759	0.99824	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	.	.	.	X	1194;1190;972;1194;1022	.	ENSP00000262879:E1194X	E	+	1	0	RALGAPB	36624637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.454000	0.97621	2.753000	0.94483	0.557000	0.71058	GAA	.		0.393	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		T	37191223	G	T	37191223	4	4	8	1	0	0	0	0	0	1	0	0	13060	943	33	3	3670	3	RALGAPB	20	37191223	Nonsense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		37191223	25834297	134	1227											
C20orf151	140893	hgsc.bcm.edu	37	20	60985985	60985985	+	Silent	SNP	G	G	A	rs151053015		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr20:60985985G>A	ENST00000252998.1	-	14	2100	c.1944C>T	c.(1942-1944)gaC>gaT	p.D648D		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	648						extracellular space (GO:0005615)											GGTCCTCGGCGTCCCTTGGGC	0.677																																					p.D648D		.											C20orf151,lower_third,carcinoma,0,1	C20orf151	0	0			c.C1944T						.	G		1,4405	2.1+/-5.4	0,1,2202	93	91	92		1944	0.4	0	20	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	C20orf151	NM_080833.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		648/665	60985985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140893	exon14			CTCGGCGTCCCTT	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.1944C>T	20.37:g.60985985G>A		80	0		48	2	NM_080833	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	CCDS13498.1																																																																																			0.000		0.677	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		A	60985985	G	A	60985985	2	1	8	1	0	0	0	0	0	0	0	1	2098	1136	40	1		1	C20orf151	20	60985985	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	23794762	60985985	2039535	135	1228											
CRKL	1399	hgsc.bcm.edu	37	22	21304043	21304043	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr22:21304043G>T	ENST00000354336.3	+	3	1331	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	274	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TAAATGGCCAGTGGGAAGGCG	0.443																																					p.Q274H	Pancreas(85;3 1441 23889 42519 42763)	.											CRKL,NS,carcinoma,0,1	CRKL	0	0			c.G822T						.						184	176	179					22																	21304043		2203	4300	6503	SO:0001583	missense	1399	exon3			TGGCCAGTGGGAA		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"SH2 domain containing"	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.822G>T	22.37:g.21304043G>T	ENSP00000346300:p.Gln274His	85	0		52	3	NM_005207	A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105535	0.77096	.	.	ENSG00000099942	ENST00000354336	T	0.29397	1.57	5.31	0.675	0.17952	Src homology-3 domain (2);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.46289	-0.9202	10	0.72032	D	0.01	.	9.3827	0.38325	0.3163:0.0:0.6837:0.0	.	274	P46109	CRKL_HUMAN	H	274	ENSP00000346300:Q274H	ENSP00000346300:Q274H	Q	+	3	2	CRKL	19634043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.322000	0.33689	0.220000	0.20860	0.591000	0.81541	CAG	.		0.443	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		T	21304043	G	T	21304043	3	4	8	1	0	0	0	0	1	0	0	0	3892	1020	36	3	832	3	CRKL	22	21304043	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		21304043	30000523	136	1229											
CACNG2	10369	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	37098604	37098604	+	Silent	SNP	T	T	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr22:37098604T>G	ENST00000300105.6	-	1	999	c.18A>C	c.(16-18)cgA>cgC	p.R6R	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	6					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|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)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTTGAACACCTCGATCAAACA	0.468																																					p.R6R		.											.	.	.	0			c.A18C						.						113	106	109					22																	37098604		2203	4300	6503	SO:0001819	synonymous_variant	10369	exon1			AACACCTCGATCA	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.18A>C	22.37:g.37098604T>G		84	0		71	5	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	CCDS13931.1																																																																																			.		0.468	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			G	37098604	T	G	37098604	2	3	8	1	0	0	0	0	0	0	0	1	2564	1538	54	4		4	CACNG2	22	37098604	Silent	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	15794561	37098604	14205962	137	1230											
EFCAB6	64800	broad.mit.edu	37	22	43985975	43985975	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chr22:43985975T>C	ENST00000262726.7	-	24	3264	c.3011A>G	c.(3010-3012)gAg>gGg	p.E1004G	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E852G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1004					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGGGTCAGCTCCCCTTCGGT	0.408																																					p.E1004G													.	EFCAB6	177	0			c.A3011G						.						246	216	226					22																	43985975		2203	4300	6503	SO:0001583	missense	64800	exon24			GTCAGCTCCCCTT	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3011A>G	22.37:g.43985975T>C	ENSP00000262726:p.Glu1004Gly	65	0		52	3	NM_022785	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622278	0.46840	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.85629	-2.01;-2.01	4.73	4.73	0.59995	EF-hand-like domain (1);	0.344456	0.26380	N	0.024719	D	0.91081	0.7193	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.972	D	0.91897	0.5528	10	0.72032	D	0.01	-29.3854	13.1111	0.59275	0.0:0.0:0.0:1.0	.	852;1004	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	G	852;1004	ENSP00000379533:E852G;ENSP00000262726:E1004G	ENSP00000262726:E1004G	E	-	2	0	EFCAB6	42317308	1.000000	0.71417	0.983000	0.44433	0.093000	0.18481	4.531000	0.60602	1.902000	0.55061	0.454000	0.30748	GAG	.		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		C	43985975	T	C	43985975	3	2	8	1	0	0	0	0	1	0	0	0	4953	1551	54	4	1530	4	EFCAB6	22	43985975	Missense_Mutation	SNP	T	TCGA-W5-AA2G-01A-11D-A417-09	6887371	43985975	7318591	138	1231											
PRKX	5613	hgsc.bcm.edu;bcgsc.ca	37	X	3573313	3573313	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:3573313G>A	ENST00000262848.5	-	3	830	c.476C>T	c.(475-477)gCc>gTc	p.A159V	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GTACTCGATGGCACAGATGAT	0.577																																					p.A159V		.											.	.	.	0			c.C476T						.						123	104	110					X																	3573313		2203	4300	6503	SO:0001583	missense	5613	exon3			TCGATGGCACAGA		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.476C>T	X.37:g.3573313G>A	ENSP00000262848:p.Ala159Val	67	0		56	4	NM_005044		Missense_Mutation	SNP	ENST00000262848.5	37	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029967	0.75504	.	.	ENSG00000183943	ENST00000262848	T	0.14893	2.47	3.7	2.8	0.32819	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	0.31638	0.0803	M	0.84773	2.715	0.80722	D	1	P	0.47962	0.903	P	0.48552	0.581	T	0.19257	-1.0311	10	0.72032	D	0.01	-24.3364	11.2632	0.49095	0.0:0.1827:0.8173:0.0	.	159	P51817	PRKX_HUMAN	V	159	ENSP00000262848:A159V	ENSP00000262848:A159V	A	-	2	0	PRKX	3583313	1.000000	0.71417	0.015000	0.15790	0.874000	0.50279	7.990000	0.88215	0.429000	0.26202	0.529000	0.55759	GCC	.		0.577	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		A	3573313	G	A	3573313	3	1	8	1	0	0	0	0	1	0	0	0	12569	1203	42	3	624	3	PRKX	23	3573313	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09		3573313	151697247	139	1232											
PHKA2	5256	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	18924875	18924875	+	Silent	SNP	G	G	A			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:18924875G>A	ENST00000379942.4	-	24	3320	c.2655C>T	c.(2653-2655)atC>atT	p.I885I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	885					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|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)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGGCAATGCTGATGTCCTGCC	0.597																																					p.I885I		.											.	.	.	0			c.C2655T						.						170	150	157					X																	18924875		2203	4300	6503	SO:0001819	synonymous_variant	5256	exon24			AATGCTGATGTCC		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2655C>T	X.37:g.18924875G>A		94	0		80	7	NM_000292	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	CCDS14190.1																																																																																			.		0.597	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		A	18924875	G	A	18924875	2	1	8	1	0	0	0	0	0	0	0	1	11883	1280	45	3		3	PHKA2	23	18924875	Silent	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	15351562	18924875	136345685	140	1233											
MAGEE1	57692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	75650880	75650880	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:75650880A>T	ENST00000361470.2	+	1	2835	c.2557A>T	c.(2557-2559)Agg>Tgg	p.R853W		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	853	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					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						CAACCATGCCAGGGAGTCTGC	0.493																																					p.R853W		.											.	.	.	0			c.A2557T						.						52	46	48					X																	75650880		2203	4300	6503	SO:0001583	missense	57692	exon1			CATGCCAGGGAGT	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.2557A>T	X.37:g.75650880A>T	ENSP00000354912:p.Arg853Trp	64	0		38	10	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.405607	0.42715	.	.	ENSG00000198934	ENST00000361470	T	0.05139	3.49	2.52	2.52	0.30459	.	.	.	.	.	T	0.13500	0.0327	L	0.42744	1.35	0.09310	N	1	D	0.61080	0.989	D	0.65233	0.933	T	0.09930	-1.0652	9	0.72032	D	0.01	.	6.0982	0.20033	1.0:0.0:0.0:0.0	.	853	Q9HCI5	MAGE1_HUMAN	W	853	ENSP00000354912:R853W	ENSP00000354912:R853W	R	+	1	2	MAGEE1	75567284	0.996000	0.38824	0.034000	0.17996	0.997000	0.91878	1.209000	0.32357	1.232000	0.43678	0.486000	0.48141	AGG	.		0.493	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		T	75650880	A	T	75650880	3	4	8	1	0	0	0	0	1	0	0	0	9223	179	7	5	2559	5	MAGEE1	23	75650880	Missense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	56726005	75650880	79619680	141	1234											
BRWD3	254065	broad.mit.edu;bcgsc.ca	37	X	79946606	79946606	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:79946606G>T	ENST00000373275.4	-	31	3764	c.3548C>A	c.(3547-3549)gCt>gAt	p.A1183D	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1183	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						AGTTGGATAAGCAACTACAGT	0.358																																					p.A1183D													.	BRWD3	251	0			c.C3548A						.						78	75	76					X																	79946606		2202	4299	6501	SO:0001583	missense	254065	exon31			GGATAAGCAACTA		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.3548C>A	X.37:g.79946606G>T	ENSP00000362372:p.Ala1183Asp	225	2		138	7	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957549	0.73902	.	.	ENSG00000165288	ENST00000373275	T	0.18174	2.23	4.81	4.81	0.61882	Bromodomain (5);	0.051832	0.85682	D	0.000000	T	0.31513	0.0799	L	0.37897	1.145	0.58432	D	0.999999	D	0.71674	0.998	D	0.70487	0.969	T	0.02075	-1.1218	9	.	.	.	-14.8958	17.0235	0.86440	0.0:0.0:1.0:0.0	.	1183	Q6RI45	BRWD3_HUMAN	D	1183	ENSP00000362372:A1183D	.	A	-	2	0	BRWD3	79833262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.197000	0.70478	0.600000	0.82982	GCT	.		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		T	79946606	G	T	79946606	3	4	8	1	0	0	0	0	1	0	0	0	1530	971	34	3	1904	3	BRWD3	23	79946606	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	4295726	79946606	75323954	142	1235											
NXF5	55998	hgsc.bcm.edu	37	X	101096287	101096287	+	Missense_Mutation	SNP	G	G	A	rs199849270		TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:101096287G>A	ENST00000361708.2	-	7	696	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	NXF5_ENST00000537026.1_Missense_Mutation_p.R113W|NXF5_ENST00000473265.2_Missense_Mutation_p.R113W			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	113					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACATTGTACCGTTTGTTCATG	0.547																																					p.R113W		.											.	.	.	0			c.C337T						.	G	TRP/ARG	1,3830		0,1,1629,571	34	34	34		337	-0.9	0	X		34	1,6673		0,1,2410,1852	no	missense	NXF5	NM_032946.2	101	0,2,4039,2423	AA,AG,GG,G		0.015,0.0261,0.019	probably-damaging	113/366	101096287	2,10503	2201	4263	6464	SO:0001583	missense	55998	exon7			TGTACCGTTTGTT	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.337C>T	X.37:g.101096287G>A	ENSP00000355286:p.Arg113Trp	215	0		161	18	NM_032946	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	12.18	1.859693	0.32884	2.61E-4	1.5E-4	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.58797	0.31;0.31;0.31	2.18	-0.91	0.10511	.	0.077917	0.50627	N	0.000108	T	0.52435	0.1734	M	0.91717	3.235	0.44807	D	0.997817	P	0.50443	0.935	B	0.37267	0.245	T	0.52495	-0.8568	10	0.87932	D	0	.	2.2335	0.04002	0.3224:0.0:0.4336:0.244	.	113	A2RRM0	.	W	113	ENSP00000442401:R113W;ENSP00000426978:R113W;ENSP00000355286:R113W	ENSP00000263032:R113W	R	-	1	2	NXF5	100982943	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	1.388000	0.34442	-0.338000	0.08413	-1.693000	0.00726	CGG	.		0.547	NXF5-201	KNOWN	basic	protein_coding	protein_coding				A	101096287	G	A	101096287	3	1	8	1	0	0	0	0	1	0	0	0	10825	1144	40	1	800	1	NXF5	23	101096287	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	21149681	101096287	54174273	143	1236											
ZMAT1	84460	hgsc.bcm.edu	37	X	101153157	101153157	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:101153157G>T	ENST00000372782.3	-	4	312	c.265C>A	c.(265-267)Caa>Aaa	p.Q89K	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q89K	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	89						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CCATGCATTTGAAAATAAAAA	0.303																																					p.Q89K		.											.	.	.	0			c.C265A						.						94	77	83					X																	101153157		2203	4299	6502	SO:0001583	missense	84460	exon4			GCATTTGAAAATA	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.265C>A	X.37:g.101153157G>T	ENSP00000361868:p.Gln89Lys	99	0		99	4	NM_001011657	Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861611	0.32884	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.16597	2.33;2.33	4.6	3.71	0.42584	.	0.650135	0.12979	N	0.423492	T	0.15132	0.0365	M	0.63843	1.955	0.80722	D	1	P	0.39282	0.666	B	0.30179	0.112	T	0.06954	-1.0798	10	0.13470	T	0.59	-0.7736	11.6171	0.51096	0.0:0.177:0.823:0.0	.	89	Q5H9K5	ZMAT1_HUMAN	K	89	ENSP00000361868:Q89K;ENSP00000437529:Q89K	ENSP00000361868:Q89K	Q	-	1	0	ZMAT1	101039813	1.000000	0.71417	0.979000	0.43373	0.802000	0.45316	4.782000	0.62396	1.072000	0.40860	0.424000	0.28305	CAA	.		0.303	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			T	101153157	G	T	101153157	3	4	8	1	0	0	0	0	1	0	0	0	17739	1299	45	3	1667	3	ZMAT1	23	101153157	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	56870	101153157	54117403	144	1237											
GPRASP1	9737	hgsc.bcm.edu;bcgsc.ca	37	X	101910213	101910213	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:101910213A>G	ENST00000361600.5	+	5	2173	c.1372A>G	c.(1372-1374)Agg>Ggg	p.R458G	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.R458G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R458G|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R458G	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	458					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						ATCCAGACCAAGGACTGATGG	0.502																																					p.R458G		.											.	.	.	0			c.A1372G						.						116	103	108					X																	101910213		2203	4300	6503	SO:0001583	missense	9737	exon3			AGACCAAGGACTG	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.1372A>G	X.37:g.101910213A>G	ENSP00000355146:p.Arg458Gly	81	0		65	4	NM_001099411	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	3.938	-0.014855	0.07681	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	2.58	-1.69	0.08186	.	.	.	.	.	T	0.06142	0.0159	L	0.38838	1.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44467	-0.9326	9	0.18710	T	0.47	-3.5958	0.8594	0.01190	0.4877:0.193:0.1284:0.1908	.	458	Q5JY77	GASP1_HUMAN	G	458	ENSP00000393691:R458G;ENSP00000409420:R458G;ENSP00000355146:R458G;ENSP00000445683:R458G	ENSP00000355146:R458G	R	+	1	2	GPRASP1	101796869	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.476000	0.06591	-0.480000	0.06803	0.422000	0.28245	AGG	.		0.502	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		G	101910213	A	G	101910213	3	3	8	1	0	0	0	0	1	0	0	0	6749	63	3	4	1374	4	GPRASP1	23	101910213	Missense_Mutation	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	757056	101910213	53360347	145	1238											
PRPS1	5631	hgsc.bcm.edu	37	X	106885652	106885652	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:106885652G>T	ENST00000372435.4	+	4	584	c.462G>T	c.(460-462)tgG>tgT	p.W154C	PRPS1_ENST00000543248.1_Missense_Mutation_p.W154C|PRPS1_ENST00000372418.1_Missense_Mutation_p.W54C|PRPS1_ENST00000372428.4_Missense_Mutation_p.W87C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	154					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCCTAAAGTGGATAAGGGAGA	0.428																																					p.W154C		.											.	.	.	0			c.G462T						.						143	121	128					X																	106885652		2203	4300	6503	SO:0001583	missense	5631	exon4			AAAGTGGATAAGG	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"PRS I", "ribose-phosphate diphosphokinase 1"	311850	"deafness, X-linked 2, perceptive, congenital"	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.462G>T	X.37:g.106885652G>T	ENSP00000361512:p.Trp154Cys	95	0		90	5	NM_002764	B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849845	0.71603	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.93076	-3.16;-2.88;-3.16;-2.55	4.51	4.51	0.55191	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.90425	3.115	0.80722	D	1	B;B	0.31100	0.308;0.308	B;B	0.34779	0.189;0.189	D	0.94581	0.7779	10	0.46703	T	0.11	.	16.0202	0.80478	0.0:0.0:1.0:0.0	.	154;154	Q53FW2;P60891	.;PRPS1_HUMAN	C	154;87;154;54	ENSP00000361512:W154C;ENSP00000361505:W87C;ENSP00000443185:W154C;ENSP00000361495:W54C	ENSP00000361495:W54C	W	+	3	0	PRPS1	106772308	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.357000	0.97099	2.174000	0.68829	0.544000	0.68410	TGG	.		0.428	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			T	106885652	G	T	106885652	3	4	8	1	0	0	0	0	1	0	0	0	12620	1183	41	3	476	3	PRPS1	23	106885652	Missense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	4975439	106885652	48384908	146	1239											
OR13H1	347468	ucsc.edu	37	X	130678378	130678378	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:130678378G>T	ENST00000338616.3	+	1	429	c.331G>T	c.(331-333)Gag>Tag	p.E111*		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, 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)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGCCACAGCAGAGTGCCTCCT	0.527																																					p.E111X													.	OR13H1	41	0			c.G331T						.						152	122	132					X																	130678378		2203	4300	6503	SO:0001587	stop_gained	347468	exon1			ACAGCAGAGTGCC		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.331G>T	X.37:g.130678378G>T	ENSP00000340748:p.Glu111*	38	0		35	4	NM_001004486	B2RNQ3|Q6IET8|Q96R12	Nonsense_Mutation	SNP	ENST00000338616.3	37	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138069	0.37728	.	.	ENSG00000171054	ENST00000338616	.	.	.	4.87	3.04	0.35103	.	0.000000	0.39909	U	0.001237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9412	0.29959	0.0954:0.1591:0.7454:0.0	.	.	.	.	X	111	.	ENSP00000340748:E111X	E	+	1	0	OR13H1	130506059	0.810000	0.29049	0.447000	0.26932	0.020000	0.10135	1.457000	0.35212	1.031000	0.39867	0.600000	0.82982	GAG	.		0.527	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			T	130678378	G	T	130678378	4	4	8	1	0	0	0	0	0	1	0	0	10982	943	33	3	333	3	OR13H1	23	130678378	Nonsense_Mutation	SNP	G	TCGA-W5-AA2G-01A-11D-A417-09	23792726	130678378	24592182	147	1240											
F9	2158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	138642998	138642998	+	Silent	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:138642998A>G	ENST00000218099.2	+	7	829	c.822A>G	c.(820-822)aaA>aaG	p.K274K	F9_ENST00000394090.2_Silent_p.K236K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	274	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)	CTGGTGTTAAAATTACAGTTG	0.358																																					p.K274K		.											.	.	.	0			c.A822G						.						178	160	166					X																	138642998		2203	4300	6503	SO:0001819	synonymous_variant	2158	exon7			TGTTAAAATTACA	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.822A>G	X.37:g.138642998A>G		163	0		136	15	NM_000133	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	CCDS14666.1																																																																																			.		0.358	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			G	138642998	A	G	138642998	2	3	8	1	0	0	0	0	0	0	0	1	5370	11	1	4		4	F9	23	138642998	Silent	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	7964620	138642998	16627562	148	1241											
ATP11C	286410	broad.mit.edu;bcgsc.ca	37	X	138899055	138899055	+	Silent	SNP	A	A	G			TCGA-W5-AA2G-01A-11D-A417-09	TCGA-W5-AA2G-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47619547-f613-400f-9d49-51447acdff69	41c0feef-88a9-4742-9c2b-15c3851dba8d	g.chrX:138899055A>G	ENST00000327569.3	-	4	392	c.294T>C	c.(292-294)ctT>ctC	p.L98L	ATP11C_ENST00000361648.2_Silent_p.L98L|ATP11C_ENST00000370543.1_Silent_p.L98L|ATP11C_ENST00000359686.2_Silent_p.L98L|ATP11C_ENST00000370557.1_Silent_p.L95L	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	98					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TAACAAAGAAAAGTGGAAGTC	0.353																																					p.L98L													.	ATP11C	319	0			c.T294C						.						84	78	80					X																	138899055		2203	4300	6503	SO:0001819	synonymous_variant	286410	exon4			AAAGAAAAGTGGA	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.294T>C	X.37:g.138899055A>G		232	0		190	6	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																			.		0.353	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		G	138899055	A	G	138899055	2	3	8	1	0	0	0	0	0	0	0	1	1122	1	1	4		4	ATP11C	23	138899055	Silent	SNP	A	TCGA-W5-AA2G-01A-11D-A417-09	256057	138899055	16371505	149	1242											
CAMTA1	23261	hgsc.bcm.edu	37	1	7737779	7737779	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:7737779G>T	ENST00000303635.7	+	11	3107	c.2900G>T	c.(2899-2901)tGg>tTg	p.W967L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.W967L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	967					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)		CAGCACGACTGGCTGTCGTTG	0.552			T	WWTR1	epitheliod hemangioendothelioma																																p.W967L		.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	CAMTA1,colon,carcinoma,0,1	CAMTA1	0	0			c.G2900T						.						85	77	80					1																	7737779		2203	4300	6503	SO:0001583	missense	23261	exon11			ACGACTGGCTGTC	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.2900G>T	1.37:g.7737779G>T	ENSP00000306522:p.Trp967Leu	29	0		29	2	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.946697	0.92593	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.22539	1.96;1.95	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.986	T	0.11817	-1.0572	10	0.27785	T	0.31	-10.396	18.5301	0.90989	0.0:0.0:1.0:0.0	.	967;967	Q9Y6Y1-2;Q9Y6Y1	.;CMTA1_HUMAN	L	967;967;54	ENSP00000306522:W967L;ENSP00000402561:W967L	ENSP00000306522:W967L	W	+	2	0	CAMTA1	7660366	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.807000	0.99171	2.382000	0.81193	0.555000	0.69702	TGG	.		0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7737779	G	T	7737779	3	4	9	1	0	0	0	0	1	0	0	0	2620	1357	47	3	2942	3	CAMTA1	1	7737779	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		7737779	241512842	1	1243											
FBXO2	26232	hgsc.bcm.edu	37	1	11710798	11710798	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:11710798T>G	ENST00000354287.4	-	2	457	c.116A>C	c.(115-117)gAg>gCg	p.E39A	FBXO2_ENST00000475961.1_5'UTR	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	39					cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GGccgccgcctcctcctcctg	0.761																																					p.E39A		.											FBXO2,NS,carcinoma,0,1	FBXO2	0	0			c.A116C						.						2	2	2					1																	11710798		1686	3300	4986	SO:0001583	missense	26232	exon2			GCCGCCTCCTCCT	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"F-boxes /  "other""	13581	protein-coding gene	gene with protein product		607112	"F-box only protein 2", "organ of Corti protein 1"	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.116A>C	1.37:g.11710798T>G	ENSP00000346240:p.Glu39Ala	8	1		8	3	NM_012168	B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	ENST00000354287.4	37	CCDS130.1	.	.	.	.	.	.	.	.	.	.	T	7.272	0.607315	0.14002	.	.	ENSG00000116661	ENST00000354287;ENST00000452872	T	0.25579	1.79	4.36	-8.72	0.00845	F-box domain, Skp2-like (1);	0.961229	0.08522	N	0.933284	T	0.08670	0.0215	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	0.35450	-0.9788	10	0.14252	T	0.57	-18.8732	7.4313	0.27128	0.1044:0.0755:0.6098:0.2103	.	39;39	A6NNP0;Q9UK22	.;FBX2_HUMAN	A	39	ENSP00000346240:E39A	ENSP00000346240:E39A	E	-	2	0	FBXO2	11633385	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.403000	0.07214	-1.473000	0.01881	0.454000	0.30748	GAG	.		0.761	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		G	11710798	T	G	11710798	3	3	9	1	0	0	0	0	1	0	0	0	5754	1551	54	4	794	4	FBXO2	1	11710798	Missense_Mutation	SNP	T	TCGA-W5-AA2H-01A-31D-A417-09	3973019	11710798	237539823	2	1244											
ZNF683	257101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	26691514	26691514	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:26691514A>G	ENST00000436292.1	-	4	643	c.523T>C	c.(523-525)Tgt>Cgt	p.C175R	ZNF683_ENST00000349618.3_Missense_Mutation_p.C175R|ZNF683_ENST00000403843.1_Missense_Mutation_p.C175R|ZNF683_ENST00000374204.1_Missense_Mutation_p.C175R			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	175					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)		ACAGGGGGACAGGGGCAGAAA	0.612																																					p.C175R		.											.	.	.	0			c.T523C						.						43	45	44					1																	26691514		2203	4300	6503	SO:0001583	missense	257101	exon4			GGGGACAGGGGCA	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.523T>C	1.37:g.26691514A>G	ENSP00000388792:p.Cys175Arg	28	0		31	4	NM_173574	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37		.	.	.	.	.	.	.	.	.	.	A	17.18	3.324284	0.60634	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T;T	0.32023	3.15;3.15;3.09;3.09;2.21;2.22;1.47;1.87;1.88	4.49	2.03	0.26663	.	0.337941	0.21938	N	0.066927	T	0.17023	0.0409	L	0.29908	0.895	0.29510	N	0.854275	B;B	0.30146	0.27;0.176	B;B	0.25506	0.061;0.028	T	0.11567	-1.0582	10	0.59425	D	0.04	-1.2676	3.0159	0.06059	0.653:0.0:0.1162:0.2308	.	175;175	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	R	175;175;175;175;183;175;125;183;175	ENSP00000384782:C175R;ENSP00000388792:C175R;ENSP00000363320:C175R;ENSP00000344095:C175R;ENSP00000411289:C183R;ENSP00000411290:C175R;ENSP00000412881:C125R;ENSP00000391584:C183R;ENSP00000401961:C175R	ENSP00000344095:C175R	C	-	1	0	ZNF683	26564101	0.335000	0.24748	0.782000	0.31804	0.448000	0.32197	0.152000	0.16302	0.788000	0.33755	0.459000	0.35465	TGT	.		0.612	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		G	26691514	A	G	26691514	3	3	9	1	0	0	0	0	1	0	0	0	18138	188	7	4	1003	4	ZNF683	1	26691514	Missense_Mutation	SNP	A	TCGA-W5-AA2H-01A-31D-A417-09	14980716	26691514	222559107	3	1245											
GBP7	388646	hgsc.bcm.edu;bcgsc.ca	37	1	89616212	89616212	+	Silent	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:89616212G>T	ENST00000294671.2	-	6	810	c.672C>A	c.(670-672)atC>atA	p.I224I		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	224	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					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)		AGAAATGCCTGATCCACTCCC	0.413																																					p.I224I		.											.	.	.	0			c.C672A						.						111	108	109					1																	89616212		2203	4300	6503	SO:0001819	synonymous_variant	388646	exon6			ATGCCTGATCCAC	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.672C>A	1.37:g.89616212G>T		55	0		68	4	NM_207398		Silent	SNP	ENST00000294671.2	37	CCDS720.1																																																																																			.		0.413	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		T	89616212	G	T	89616212	2	4	9	1	0	0	0	0	0	0	0	1	6304	1280	45	3		3	GBP7	1	89616212	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	62924698	89616212	159634409	4	1246											
CLCC1	23155	hgsc.bcm.edu	37	1	109493041	109493041	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:109493041G>T	ENST00000369971.2	-	2	148	c.19C>A	c.(19-21)Ctt>Att	p.L7I	CLCC1_ENST00000369969.2_Missense_Mutation_p.L7I|CLCC1_ENST00000369968.2_Missense_Mutation_p.L7I|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.L7I|CLCC1_ENST00000356970.2_Missense_Mutation_p.L7I|CLCC1_ENST00000369976.1_Missense_Mutation_p.L7I|CLCC1_ENST00000348264.2_Missense_Mutation_p.L7I|CLCC1_ENST00000369970.3_Missense_Mutation_p.L7I|CLCC1_ENST00000415331.1_Missense_Mutation_p.L7I	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	7						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)		CATTCACAAAGGAGCAAAGAA	0.338																																					p.L7I		.											CLCC1_ENST00000369971,right_upper_lobe,carcinoma,0,2	CLCC1_ENST00000369971	0	0			c.C19A						.						83	71	75					1																	109493041		2203	4300	6503	SO:0001583	missense	23155	exon2			CACAAAGGAGCAA	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.19C>A	1.37:g.109493041G>T	ENSP00000358988:p.Leu7Ile	14	0		24	2	NM_001048210	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	9.813	1.183590	0.21870	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.5	3.64	0.41730	.	0.220574	0.39407	N	0.001378	T	0.47116	0.1428	M	0.72118	2.19	0.20764	N	0.999854	D;D;D;P	0.55385	0.971;0.971;0.971;0.955	P;P;P;P	0.52424	0.651;0.651;0.572;0.698	T	0.43798	-0.9369	10	0.87932	D	0	-11.5011	10.7633	0.46277	0.213:0.0:0.787:0.0	.	7;7;7;7	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	I	7	ENSP00000349456:L7I;ENSP00000358988:L7I;ENSP00000411591:L7I;ENSP00000358986:L7I;ENSP00000358985:L7I;ENSP00000358993:L7I;ENSP00000358987:L7I;ENSP00000337243:L7I;ENSP00000306552:L7I	ENSP00000306552:L7I	L	-	1	0	CLCC1	109294564	0.762000	0.28451	0.996000	0.52242	0.044000	0.14063	0.200000	0.17257	0.814000	0.34374	0.591000	0.81541	CTT	.		0.338	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		T	109493041	G	T	109493041	3	4	9	1	0	0	0	0	1	0	0	0	3467	1000	35	3	1676	3	CLCC1	1	109493041	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	19876829	109493041	139757580	5	1247											
ECM1	1893	hgsc.bcm.edu	37	1	150484858	150484858	+	Missense_Mutation	SNP	C	C	T	rs587651183		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:150484858C>T	ENST00000369047.4	+	8	1239	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	ECM1_ENST00000346569.6_Missense_Mutation_p.R247W|ECM1_ENST00000369049.4_Missense_Mutation_p.R399W|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	372	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)	p.R372W(1)		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)			ATACTGTGACCGGGAGTATGC	0.577													C|||	1	0.000199681	0	0.0014	5008	,	,		19130	0		0	False		,,,				2504	0				p.R399W	Melanoma(156;1696 2560 11093 19685)	.											ECM1,colon,carcinoma,0,1	ECM1	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1195T						.						107	92	97					1																	150484858		2203	4300	6503	SO:0001583	missense	1893	exon8			TGTGACCGGGAGT	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.1114C>T	1.37:g.150484858C>T	ENSP00000358043:p.Arg372Trp	29	0		50	2	NM_001202858	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	4.590	0.109674	0.08780	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.86297	-2.1;-2.1;-2.1	4.49	1.24	0.21308	.	1.114540	0.06774	N	0.784095	T	0.61924	0.2386	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.18310	0.027;0.019;0.027;0.024	B;B;B;B	0.18561	0.006;0.022;0.011;0.017	T	0.55661	-0.8106	10	0.72032	D	0.01	0.0088	2.2584	0.04060	0.2252:0.4949:0.1703:0.1095	.	399;372;247;372	Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;ECM1_HUMAN	W	399;372;247	ENSP00000358045:R399W;ENSP00000358043:R372W;ENSP00000271630:R247W	ENSP00000271630:R247W	R	+	1	2	ECM1	148751482	0.000000	0.05858	0.010000	0.14722	0.240000	0.25518	-0.494000	0.06451	0.560000	0.29169	0.563000	0.77884	CGG	.		0.577	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		T	150484858	C	T	150484858	3	4	9	1	0	0	0	0	1	0	0	0	4911	643	23	1	1144	1	ECM1	1	150484858	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	40991817	150484858	98765763	6	1248											
SPTA1	6708	hgsc.bcm.edu	37	1	158618388	158618388	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:158618388C>T	ENST00000368147.4	-	26	3805	c.3625G>A	c.(3625-3627)Gca>Aca	p.A1209T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1209					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)					CCAGGGTCTGCAGCACTGAGG	0.502																																					p.A1209T		.											.	.	.	0			c.G3625A						.						122	120	121					1																	158618388		1961	4160	6121	SO:0001583	missense	6708	exon26			GGTCTGCAGCACT	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.3625G>A	1.37:g.158618388C>T	ENSP00000357129:p.Ala1209Thr	23	0		34	4	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469654	0.96274	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49720	0.77;0.77	5.5	5.5	0.81552	.	0.000000	0.32120	N	0.006555	T	0.41789	0.1174	L	0.58428	1.81	0.50313	D	0.999868	B	0.33299	0.407	B	0.42959	0.403	T	0.20571	-1.0271	10	0.20046	T	0.44	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	1209	P02549	SPTA1_HUMAN	T	1209	ENSP00000357130:A1209T;ENSP00000357129:A1209T	ENSP00000357129:A1209T	A	-	1	0	SPTA1	156885012	1.000000	0.71417	0.937000	0.37676	0.985000	0.73830	5.429000	0.66495	2.861000	0.98227	0.655000	0.94253	GCA	.		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158618388	C	T	158618388	3	4	9	1	0	0	0	0	1	0	0	0	15163	710	25	3	3742	3	SPTA1	1	158618388	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	8133530	158618388	90632233	7	1249											
DARC	2532	hgsc.bcm.edu	37	1	159175339	159175339	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:159175339C>T	ENST00000368122.2	+	2	789	c.110C>T	c.(109-111)cCa>cTa	p.P37L	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.P39L|DARC_ENST00000537147.1_Missense_Mutation_p.P37L	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		37					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)	p.P39Q(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GATTCCTTCCCAGATGGAGAC	0.532																																					p.P39L		.											DARC_ENST00000368121,NS,neuroblastoma,0,1	DARC_ENST00000368121	0	1	Substitution - Missense(1)	autonomic_ganglia(1)	c.C116T						.						94	89	91					1																	159175339		2203	4300	6503	SO:0001583	missense	2532	exon1			CCTTCCCAGATGG																												ENST00000368122.2:c.110C>T	1.37:g.159175339C>T	ENSP00000357104:p.Pro37Leu	18	0		27	2	NM_001122951	A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152749	0.38021	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.22134	4.43;4.43;1.97;4.42	3.88	-0.0076	0.14008	.	.	.	.	.	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	1	P;P	0.43352	0.804;0.804	B;B	0.40375	0.327;0.327	T	0.32798	-0.9893	9	0.31617	T	0.26	-10.7496	6.0717	0.19893	0.3255:0.555:0.1195:0.0	.	39;37	Q5Y7A1;Q16570	.;DUFFY_HUMAN	L	37;37;37;39;39	ENSP00000357104:P37L;ENSP00000441985:P37L;ENSP00000398406:P39L;ENSP00000357103:P39L	ENSP00000352341:P37L	P	+	2	0	DARC	157441963	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.590000	0.05760	-0.060000	0.13132	-0.521000	0.04368	CCA	.		0.532	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			T	159175339	C	T	159175339	3	4	9	1	0	0	0	0	1	0	0	0	4249	594	21	3	143	3	DARC	1	159175339	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	556951	159175339	90075282	8	1250											
FAIM3	9214	hgsc.bcm.edu	37	1	207087180	207087180	+	Silent	SNP	G	G	A	rs371358524		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:207087180G>A	ENST00000367091.3	-	2	440	c.297C>T	c.(295-297)agC>agT	p.S99S	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Silent_p.S99S	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	99	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CATAGACTCCGCTGTCACTTT	0.527																																					p.S99S		.											FAIM3,NS,carcinoma,0,2	FAIM3	0	0			c.C297T						.	G	,,	0,4406		0,0,2203	117	112	113		,297,297	-10.6	0.2	1		113	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	FAIM3	NM_001142473.1,NM_001193338.1,NM_005449.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,99/307,99/391	207087180	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9214	exon2			GACTCCGCTGTCA	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.297C>T	1.37:g.207087180G>A		29	0		25	2	NM_005449	A8K7J2|B7Z6Z0|D9MWM3	Silent	SNP	ENST00000367091.3	37	CCDS1473.1																																																																																			.		0.527	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		A	207087180	G	A	207087180	2	1	9	1	0	0	0	0	0	0	0	1	5396	1078	38	1		1	FAIM3	1	207087180	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	47911841	207087180	42163441	9	1251											
TRAF5	7188	hgsc.bcm.edu	37	1	211533365	211533365	+	Nonsense_Mutation	SNP	C	C	T	rs200980823		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:211533365C>T	ENST00000261464.5	+	5	544	c.490C>T	c.(490-492)Cga>Tga	p.R164*	TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000367004.3_Nonsense_Mutation_p.R164*|TRAF5_ENST00000336184.2_Nonsense_Mutation_p.R164*|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	164					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|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)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CTGTCAGTTTCGAAAGGAAAA	0.413																																					p.R164X		.											TRAF5,NS,carcinoma,0,2	TRAF5	0	0			c.C490T						.						133	124	127					1																	211533365		2203	4300	6503	SO:0001587	stop_gained	7188	exon5			CAGTTTCGAAAGG	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.490C>T	1.37:g.211533365C>T	ENSP00000261464:p.Arg164*	43	0		44	2	NM_004619	B4DIS9|B4E0A2|Q6FHY1	Nonsense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397698	0.96009	.	.	ENSG00000082512	ENST00000336184;ENST00000261464;ENST00000367004	.	.	.	4.97	4.04	0.47022	.	0.214099	0.40818	N	0.001014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3055	12.3718	0.55260	0.3064:0.6935:0.0:0.0	.	.	.	.	X	164	.	ENSP00000261464:R164X	R	+	1	2	TRAF5	209599988	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.836000	0.39191	1.040000	0.40099	0.591000	0.81541	CGA	0.001		0.413	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		T	211533365	C	T	211533365	4	4	9	1	0	0	0	0	0	1	0	0	16492	876	31	1	504	1	TRAF5	1	211533365	Nonsense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	4446185	211533365	37717256	10	1252											
GPATCH2	55105	bcgsc.ca	37	1	217604610	217604610	+	Silent	SNP	T	T	C			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:217604610T>C	ENST00000366935.3	-	10	1574	c.1464A>G	c.(1462-1464)cgA>cgG	p.R488R		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	488	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				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)		CCTTGCCATCTCGTCCAAGGC	0.483																																					p.R488R													GPATCH2,NS,carcinoma,-2,1	GPATCH2	53	0			c.A1464G						.						129	133	132					1																	217604610		2203	4300	6503	SO:0001819	synonymous_variant	55105	exon10			GCCATCTCGTCCA	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.1464A>G	1.37:g.217604610T>C		42	0		57	4	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	ENST00000366935.3	37	CCDS1518.1																																																																																			.		0.483	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		C	217604610	T	C	217604610	2	2	9	1	0	0	0	0	0	0	0	1	6617	1538	54	4		4	GPATCH2	1	217604610	Silent	SNP	T	TCGA-W5-AA2H-01A-31D-A417-09	6071245	217604610	31646011	11	1253											
MIA3	375056	hgsc.bcm.edu	37	1	222825333	222825333	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:222825333G>T	ENST00000344922.5	+	12	3949	c.3924G>T	c.(3922-3924)aaG>aaT	p.K1308N	MIA3_ENST00000340535.7_Missense_Mutation_p.K186N|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K1308N	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1308					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)		CAGAAAACAAGAAATCTATAG	0.313																																					p.K1308N		.											MIA3,NS,carcinoma,0,1	MIA3	0	0			c.G3924T						.						79	75	77					1																	222825333		1813	4077	5890	SO:0001583	missense	375056	exon12			AAACAAGAAATCT		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.3924G>T	1.37:g.222825333G>T	ENSP00000340900:p.Lys1308Asn	27	0		42	2	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944713	0.73672	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	T;T;T	0.70869	-0.52;-0.52;-0.52	5.59	4.67	0.58626	.	.	.	.	.	T	0.73976	0.3656	L	0.57536	1.79	0.34669	D	0.723511	P;D	0.58970	0.835;0.984	P;P	0.52672	0.466;0.706	T	0.78783	-0.2069	9	0.25751	T	0.34	.	13.617	0.62115	0.0749:0.0:0.9251:0.0	.	186;1308	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	N	1308;1308;186;186	ENSP00000340900:K1308N;ENSP00000340587:K1308N;ENSP00000345866:K186N	ENSP00000284471:K186N	K	+	3	2	MIA3	220891956	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.033000	0.41136	1.486000	0.48398	0.655000	0.94253	AAG	.		0.313	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		T	222825333	G	T	222825333	3	4	9	1	0	0	0	0	1	0	0	0	9603	933	33	3	3970	3	MIA3	1	222825333	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	5220723	222825333	26425288	12	1254											
OR2M2	391194	hgsc.bcm.edu;bcgsc.ca	37	1	248344069	248344069	+	Missense_Mutation	SNP	G	G	T	rs368462994		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr1:248344069G>T	ENST00000359682.2	+	1	782	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, 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)			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)			ATGTACATACGGCCCACATCT	0.517																																					p.R261L		.											.	.	.	0			c.G782T						.						221	196	205					1																	248344069		2203	4300	6503	SO:0001583	missense	391194	exon1			ACATACGGCCCAC	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.782G>T	1.37:g.248344069G>T	ENSP00000352710:p.Arg261Leu	45	0		71	4	NM_001004688	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	6.424	0.446358	0.12223	.	.	ENSG00000198601	ENST00000359682	T	0.36699	1.24	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	0.786555	0.09970	U	0.732317	T	0.31327	0.0793	L	0.45352	1.415	0.09310	N	1	P	0.47604	0.898	P	0.53760	0.734	T	0.17440	-1.0369	10	0.09590	T	0.72	.	3.9399	0.09323	0.4553:0.0:0.2833:0.2614	.	261	Q96R28	OR2M2_HUMAN	L	261	ENSP00000352710:R261L	ENSP00000352710:R261L	R	+	2	0	OR2M2	246410692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.605000	0.00889	-1.291000	0.02368	-0.391000	0.06502	CGG	.		0.517	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		T	248344069	G	T	248344069	3	4	9	1	0	0	0	0	1	0	0	0	11049	1116	39	2	784	2	OR2M2	1	248344069	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	25518736	248344069	906552	13	1255											
IFT172	26160	hgsc.bcm.edu;ucsc.edu	37	2	27670404	27670404	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr2:27670404G>A	ENST00000260570.3	-	42	4740	c.4637C>T	c.(4636-4638)gCa>gTa	p.A1546V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1546					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACTCTGGGCTGCAGAGCGCGT	0.498																																					p.A1546V		.											.	.	.	0			c.C4637T						.						147	137	140					2																	27670404		2203	4300	6503	SO:0001583	missense	26160	exon42			TGGGCTGCAGAGC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4637C>T	2.37:g.27670404G>A	ENSP00000260570:p.Ala1546Val	12	0		23	4	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241404	0.79912	.	.	ENSG00000138002	ENST00000260570	T	0.48522	0.81	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.66939	2.045	0.80722	D	1	D	0.58970	0.984	P	0.55824	0.785	T	0.61182	-0.7114	10	0.44086	T	0.13	-11.8015	15.9265	0.79621	0.0:0.0:1.0:0.0	.	1546	Q9UG01	IF172_HUMAN	V	1546	ENSP00000260570:A1546V	ENSP00000260570:A1546V	A	-	2	0	IFT172	27523908	1.000000	0.71417	0.480000	0.27341	0.305000	0.27757	9.340000	0.97038	2.558000	0.86282	0.561000	0.74099	GCA	.		0.498	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		A	27670404	G	A	27670404	3	1	9	1	0	0	0	0	1	0	0	0	7584	1319	46	3	640	3	IFT172	2	27670404	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		27670404	215528969	14	1256											
DNAH6	1768	bcgsc.ca	37	2	84822773	84822773	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr2:84822773A>G	ENST00000237449.6	+	17	2736	c.2728A>G	c.(2728-2730)Aaa>Gaa	p.K910E	DNAH6_ENST00000398278.2_Missense_Mutation_p.K910E|DNAH6_ENST00000389394.3_Missense_Mutation_p.K910E			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	910	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						TTCATAGTCCAAATTTGATTG	0.308																																					p.K910E													.	DNAH6	194	0			c.A2728G						.						42	35	37					2																	84822773		692	1591	2283	SO:0001583	missense	1768	exon18			TAGTCCAAATTTG	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.2728A>G	2.37:g.84822773A>G	ENSP00000237449:p.Lys910Glu	27	0		47	4	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	6.108	0.388200	0.11581	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.61040	0.14;0.14;0.14	5.88	5.88	0.94601	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.37404	0.1002	N	0.12182	0.205	0.28229	N	0.926196	B	0.02656	0.0	B	0.09377	0.004	T	0.08932	-1.0698	9	0.05436	T	0.98	.	15.2791	0.73767	1.0:0.0:0.0:0.0	.	910	Q9C0G6	DYH6_HUMAN	E	910	ENSP00000374045:K910E;ENSP00000381326:K910E;ENSP00000237449:K910E	ENSP00000237449:K910E	K	+	1	0	DNAH6	84676284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.222000	0.65277	2.243000	0.73865	0.528000	0.53228	AAA	.		0.308	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84822773	A	G	84822773	3	3	9	1	0	0	0	0	1	0	0	0	4619	131	5	4	2794	4	DNAH6	2	84822773	Missense_Mutation	SNP	A	TCGA-W5-AA2H-01A-31D-A417-09	57152369	84822773	158376600	15	1257											
GLI2	2736	hgsc.bcm.edu	37	2	121732608	121732608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr2:121732608G>T	ENST00000452319.1	+	9	1351	c.1291G>T	c.(1291-1293)Gag>Tag	p.E431*	GLI2_ENST00000361492.4_Nonsense_Mutation_p.E431*|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Nonsense_Mutation_p.E103*					GLI family zinc finger 2									p.E431Q(1)		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)				GCAGGAGGCTGAGGTGGTCAT	0.577																																					p.E431X		.											GLI2,bladder,carcinoma,0,1	GLI2	0	1	Substitution - Missense(1)	urinary_tract(1)	c.G1291T						.						91	81	84					2																	121732608		2203	4300	6503	SO:0001587	stop_gained	2736	exon8			GAGGCTGAGGTGG		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.1291G>T	2.37:g.121732608G>T	ENSP00000390436:p.Glu431*	12	0		18	2	NM_005270		Nonsense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	34	5.346041	0.95807	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9294	0.92558	0.0:0.0:1.0:0.0	.	.	.	.	X	431;431;103	.	ENSP00000312694:E103X	E	+	1	0	GLI2	121449078	1.000000	0.71417	0.950000	0.38849	0.931000	0.56810	9.601000	0.98297	2.711000	0.92665	0.655000	0.94253	GAG	.		0.577	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121732608	G	T	121732608	4	4	9	1	0	0	0	0	0	1	0	0	6464	1291	45	3	1321	3	GLI2	2	121732608	Nonsense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	36909835	121732608	121466765	16	1258											
WDR33	55339	hgsc.bcm.edu	37	2	128522061	128522061	+	Intron	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr2:128522061C>T	ENST00000322313.4	-	6	785				WDR33_ENST00000409658.3_Missense_Mutation_p.E323K|WDR33_ENST00000393006.1_Intron	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						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)		AGACTGAATTCTTTATTTGGA	0.294																																					p.E323K		.											WDR33_ENST00000409658,NS,carcinoma,0,2	WDR33_ENST00000409658	0	0			c.G967A						.						26	21	23					2																	128522061		925	2075	3000	SO:0001627	intron_variant	55339	exon6			TGAATTCTTTATT		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.626+340G>A	2.37:g.128522061C>T		37	0		49	2	NM_001006622	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717369	0.48622	.	.	ENSG00000136709	ENST00000409658	T	0.37915	1.17	5.91	5.91	0.95273	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.33254	D	0.558846	D	0.56287	0.975	P	0.58130	0.833	T	0.67225	-0.5724	8	0.87932	D	0	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	323	Q9C0J8-2	.	K	323	ENSP00000387186:E323K	ENSP00000387186:E323K	E	-	1	0	WDR33	128238531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.808000	0.96608	0.655000	0.94253	GAA	.		0.294	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		T	128522061	C	T	128522061	1	4	9	0	1	0	0	0	0	0	0	0	17336	922	32	3		3	WDR33	2	128522061	Intron	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	6789453	128522061	114677312	17	1259											
ATG16L1	55054	hgsc.bcm.edu	37	2	234191392	234191392	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr2:234191392G>T	ENST00000392017.4	+	12	1453	c.1196G>T	c.(1195-1197)cGa>cTa	p.R399L	ATG16L1_ENST00000347464.5_Missense_Mutation_p.R236L|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392018.1_Missense_Mutation_p.R416L|ATG16L1_ENST00000392020.4_Missense_Mutation_p.R380L|ATG16L1_ENST00000373525.5_Missense_Mutation_p.R220L	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)	399					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)		GATGATTATCGATTACGGGTA	0.413																																					p.R399L		.											ATG16L1_ENST00000334050,NS,carcinoma,+1,2	ATG16L1_ENST00000334050	+1	0			c.G1196T						.						132	124	127					2																	234191392		2203	4300	6503	SO:0001583	missense	55054	exon12			ATTATCGATTACG	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.1196G>T	2.37:g.234191392G>T	ENSP00000375872:p.Arg399Leu	33	0		31	2	NM_030803	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564265	0.86335	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.82	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114896	0.56097	D	0.000029	T	0.43986	0.1272	M	0.81942	2.565	0.80722	D	1	D;P;P;P;P	0.55800	0.973;0.66;0.882;0.708;0.903	P;B;P;B;P	0.60286	0.872;0.169;0.58;0.26;0.705	T	0.41822	-0.9487	10	0.44086	T	0.13	.	13.1516	0.59492	0.0739:0.0:0.9261:0.0	.	353;380;220;399;236	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	L	399;236;220;380;416;58	ENSP00000375872:R399L;ENSP00000318259:R236L;ENSP00000362625:R220L;ENSP00000375875:R380L;ENSP00000375873:R416L	ENSP00000334016:R58L	R	+	2	0	ATG16L1	233856131	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	8.423000	0.90264	1.463000	0.47967	0.655000	0.94253	CGA	.		0.413	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		T	234191392	G	T	234191392	3	4	9	1	0	0	0	0	1	0	0	0	1092	1058	37	2	1242	2	ATG16L1	2	234191392	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	105669331	234191392	9007981	18	1260											
KCNH8	131096	hgsc.bcm.edu	37	3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr3:19436644C>T	ENST00000328405.2	+	7	1284	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	340					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)	p.R340C(1)		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						GCGTCTTTTGCGTCTGCTGCA	0.488																																					p.R340C	NSCLC(124;1625 1765 8018 24930 42026)	.											KCNH8,NS,carcinoma,-1,2	KCNH8	-1	1	Substitution - Missense(1)	lung(1)	c.C1018T						.						196	162	174					3																	19436644		2203	4300	6503	SO:0001583	missense	131096	exon7			CTTTTGCGTCTGC	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.1018C>T	3.37:g.19436644C>T	ENSP00000328813:p.Arg340Cys	31	1		47	2	NM_144633	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672024	0.88348	.	.	ENSG00000183960	ENST00000328405	D	0.99523	-6.08	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.32416	U	0.006131	D	0.99722	0.9892	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97601	1.0123	9	.	.	.	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	340;340	B7Z398;Q96L42	.;KCNH8_HUMAN	C	340	ENSP00000328813:R340C	.	R	+	1	0	KCNH8	19411648	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	4.787000	0.62432	2.742000	0.94016	0.650000	0.86243	CGT	.		0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19436644	C	T	19436644	3	4	9	1	0	0	0	0	1	0	0	0	8065	768	27	1	1044	1	KCNH8	3	19436644	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		19436644	178585786	19	1261											
CCDC14	64770	bcgsc.ca	37	3	123633883	123633883	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr3:123633883C>T	ENST00000488653.2	-	13	2695	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T	CCDC14_ENST00000489746.1_Missense_Mutation_p.A669T|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000433542.2_Missense_Mutation_p.A828T|CCDC14_ENST00000485727.1_Missense_Mutation_p.A669T|CCDC14_ENST00000310351.4_Missense_Mutation_p.A709T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	869					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)		TTGGTGGCAGCAGGGATCTTA	0.458																																					p.A828T													.	CCDC14	97	0			c.G2482A						.						120	106	110					3																	123633883		2203	4300	6503	SO:0001583	missense	64770	exon12			TGGCAGCAGGGAT	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.2605G>A	3.37:g.123633883C>T	ENSP00000420180:p.Ala869Thr	41	0		40	4	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	C	11.25	1.584681	0.28268	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.23	2.33	0.28932	.	0.826842	0.10911	N	0.620547	T	0.28699	0.0711	L	0.40543	1.245	0.09310	N	1	B;B;B	0.25809	0.135;0.135;0.081	B;B;B	0.23852	0.049;0.049;0.049	T	0.24870	-1.0148	10	0.36615	T	0.2	.	1.9401	0.03345	0.1699:0.481:0.1882:0.1608	.	869;828;710	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	T	869;709;669;669;828;850	ENSP00000420180:A869T;ENSP00000312031:A709T;ENSP00000418002:A669T;ENSP00000418403:A669T;ENSP00000395706:A828T;ENSP00000386866:A850T	ENSP00000312031:A709T	A	-	1	0	CCDC14	125116573	0.000000	0.05858	0.390000	0.26220	0.898000	0.52572	-0.171000	0.09883	0.717000	0.32145	0.591000	0.81541	GCT	.		0.458	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		T	123633883	C	T	123633883	3	4	9	1	0	0	0	0	1	0	0	0	2780	710	25	3	260	3	CCDC14	3	123633883	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	104197239	123633883	74388547	20	1262											
GPR125	166647	hgsc.bcm.edu	37	4	22390066	22390066	+	Silent	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr4:22390066G>T	ENST00000334304.5	-	19	3497	c.3228C>A	c.(3226-3228)ccC>ccA	p.P1076P	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1076					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)				TAGAGTTGGGGGGCTGGACGT	0.498																																					p.P1076P		.											GPR125,right_upper_lobe,carcinoma,0,1	GPR125	0	0			c.C3228A						.						66	55	59					4																	22390066		2203	4300	6503	SO:0001819	synonymous_variant	166647	exon19			GTTGGGGGGCTGG	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.3228C>A	4.37:g.22390066G>T		26	0		39	2	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	CCDS33964.1																																																																																			.		0.498	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			T	22390066	G	T	22390066	2	4	9	1	0	0	0	0	0	0	0	1	6665	1219	43	3		3	GPR125	4	22390066	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		22390066	168764210	21	1263											
TLR1	7096	hgsc.bcm.edu	37	4	38798585	38798585	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr4:38798585G>T	ENST00000502213.2	-	3	2097	c.1868C>A	c.(1867-1869)gCc>gAc	p.A623D	TLR1_ENST00000308979.2_Missense_Mutation_p.A623D|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	623					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)	p.A623D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATGTTCCTGGCCCTGCGCCG	0.493																																					p.A623D	GBM(5;216 373 40795 46382)	.											TLR1,NS,carcinoma,0,1	TLR1	0	1	Substitution - Missense(1)	lung(1)	c.C1868A						.						85	91	89					4																	38798585		2203	4300	6503	SO:0001583	missense	7096	exon4			TTCCTGGCCCTGC	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.1868C>A	4.37:g.38798585G>T	ENSP00000421259:p.Ala623Asp	35	0		30	2	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864056	0.51482	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.02067	4.47;4.47	5.5	5.5	0.81552	.	0.086178	0.49305	D	0.000154	T	0.13670	0.0331	M	0.85197	2.74	0.48830	D	0.999718	P	0.52061	0.95	D	0.64042	0.921	T	0.00007	-1.2503	10	0.87932	D	0	.	15.3868	0.74708	0.0:0.0:0.8602:0.1398	.	623	Q15399	TLR1_HUMAN	D	623	ENSP00000354932:A623D;ENSP00000421259:A623D	ENSP00000354932:A623D	A	-	2	0	TLR1	38474980	0.327000	0.24678	0.852000	0.33557	0.230000	0.25150	1.239000	0.32719	2.758000	0.94735	0.563000	0.77884	GCC	.		0.493	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38798585	G	T	38798585	3	4	9	1	0	0	0	0	1	0	0	0	15996	1203	42	3	496	3	TLR1	4	38798585	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	16408519	38798585	152355691	22	1264											
PTPN13	5783	hgsc.bcm.edu	37	4	87643569	87643569	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr4:87643569G>T	ENST00000411767.2	+	10	1653	c.1590G>T	c.(1588-1590)atG>atT	p.M530I	PTPN13_ENST00000427191.2_Missense_Mutation_p.M530I|PTPN13_ENST00000316707.6_Missense_Mutation_p.M530I|PTPN13_ENST00000511467.1_Missense_Mutation_p.M530I|PTPN13_ENST00000436978.1_Missense_Mutation_p.M530I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	530					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)	p.M530I(1)		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)		AAACAGCCATGACTCAAAGAA	0.438																																					p.M530I		.											PTPN13,NS,carcinoma,0,1	PTPN13	0	1	Substitution - Missense(1)	cervix(1)	c.G1590T						.						110	106	107					4																	87643569		1898	4122	6020	SO:0001583	missense	5783	exon10			AGCCATGACTCAA		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.1590G>T	4.37:g.87643569G>T	ENSP00000407249:p.Met530Ile	45	0		48	2	NM_006264	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384674	0.42308	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.92	4.92	0.64577	.	0.000000	0.56097	D	0.000029	T	0.30324	0.0761	M	0.63428	1.95	0.43439	D	0.995619	B;B;B;B	0.31077	0.04;0.307;0.126;0.2	B;B;B;B	0.25405	0.06;0.047;0.021;0.047	T	0.07908	-1.0748	10	0.38643	T	0.18	.	13.4538	0.61187	0.0:0.0:0.8433:0.1567	.	530;530;530;530	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	I	530;530;530;530;530;498	ENSP00000408368:M530I;ENSP00000394794:M530I;ENSP00000322675:M530I;ENSP00000407249:M530I;ENSP00000426626:M530I	ENSP00000322675:M530I	M	+	3	0	PTPN13	87862593	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.036000	0.57304	2.444000	0.82710	0.655000	0.94253	ATG	.		0.438	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			T	87643569	G	T	87643569	3	4	9	1	0	0	0	0	1	0	0	0	12825	1290	45	3	1624	3	PTPN13	4	87643569	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	48844984	87643569	103510707	23	1265											
DDX60	55601	bcgsc.ca	37	4	169214990	169214990	+	Missense_Mutation	SNP	C	C	A	rs146995893		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr4:169214990C>A	ENST00000393743.3	-	7	1121	c.830G>T	c.(829-831)cGc>cTc	p.R277L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	277					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)		TCCTAAAAAGCGATGGTACAT	0.408																																					p.R277L													.	DDX60	304	0			c.G830T						.						114	118	116					4																	169214990		2203	4300	6503	SO:0001583	missense	55601	exon7			AAAAAGCGATGGT	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.830G>T	4.37:g.169214990C>A	ENSP00000377344:p.Arg277Leu	50	0		66	4	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113485	0.20795	.	.	ENSG00000137628	ENST00000393743	T	0.17528	2.27	4.12	-4.33	0.03677	.	1.231740	0.05507	N	0.559471	T	0.12944	0.0314	L	0.43152	1.355	0.09310	N	1	B	0.27380	0.177	B	0.25614	0.062	T	0.38628	-0.9652	10	0.08179	T	0.78	.	11.5041	0.50454	0.0:0.277:0.0:0.723	.	277	Q8IY21	DDX60_HUMAN	L	277	ENSP00000377344:R277L	ENSP00000377344:R277L	R	-	2	0	DDX60	169451565	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-0.263000	0.08670	-0.857000	0.04115	-0.259000	0.10710	CGC	C|1.000;T|0.000		0.408	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		A	169214990	C	A	169214990	3	1	9	1	0	0	0	0	1	0	0	0	4387	768	27	2	4436	2	DDX60	4	169214990	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	81571421	169214990	21939286	24	1266											
SDHA	6389	hgsc.bcm.edu	37	5	251468	251468	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr5:251468C>G	ENST00000264932.6	+	13	1794	c.1679C>G	c.(1678-1680)aCg>aGg	p.T560R	SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.T512R	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	560					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.T560R(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)	GTCTGGAACACGGACCTGGTG	0.632									Familial Paragangliomas																												p.T560R		.											SDHA,NS,malignant_melanoma,0,1	SDHA	0	1	Substitution - Missense(1)	NS(1)	c.C1679G						.						17	23	21					5																	251468		2202	4290	6492	SO:0001583	missense	6389	exon13	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	GGAACACGGACCT	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.1679C>G	5.37:g.251468C>G	ENSP00000264932:p.Thr560Arg	60	0		62	3	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	18.53	3.644888	0.67358	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	T;T;T	0.80994	-1.44;-1.44;-1.44	3.62	3.62	0.41486	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91717	0.7381	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;0.999	D;D;D;D	0.87578	0.981;0.994;0.998;0.994	D	0.93691	0.7007	10	0.87932	D	0	.	13.133	0.59393	0.0:1.0:0.0:0.0	.	512;560;154;560	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	R	560;415;512;6	ENSP00000264932:T560R;ENSP00000427703:T512R;ENSP00000421911:T6R	ENSP00000264932:T560R	T	+	2	0	SDHA	304468	1.000000	0.71417	0.886000	0.34754	0.946000	0.59487	7.104000	0.77024	1.757000	0.51966	0.195000	0.17529	ACG	.		0.632	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		G	251468	C	G	251468	3	3	9	1	0	0	0	0	1	0	0	0	14008	536	19	5	1729	5	SDHA	5	251468	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		251468	180663792	25	1267											
UTP15	84135	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	72874933	72874933	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr5:72874933G>T	ENST00000296792.4	+	11	1493	c.1238G>T	c.(1237-1239)cGg>cTg	p.R413L	UTP15_ENST00000508491.1_Missense_Mutation_p.R394L|UTP15_ENST00000543251.1_Missense_Mutation_p.R223L	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	413					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)		CTTGCAGGTCGGGATGAGAAG	0.378																																					p.R413L		.											.	.	.	0			c.G1238T						.						121	129	126					5																	72874933		2203	4300	6503	SO:0001583	missense	84135	exon11			CAGGTCGGGATGA	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.1238G>T	5.37:g.72874933G>T	ENSP00000296792:p.Arg413Leu	41	0		62	4	NM_032175	B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.298574|5.298574	0.95574|0.95574	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000509005|ENST00000296792;ENST00000543251;ENST00000508491	.|T;T;T	.|0.56941	.|0.43;0.43;0.43	5.68|5.68	5.68|5.68	0.88126|0.88126	.|U3 small nucleolar RNA-associated protein 15, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79446|0.79446	0.4447|0.4447	M|M	0.91818|0.91818	3.245|3.245	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	0.79533|0.79533	-0.1764|-0.1764	5|10	.|0.37606	.|T	.|0.19	.|.	20.1467|20.1467	0.98079|0.98079	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|394;413	.|B4DXK8;Q8TED0	.|.;UTP15_HUMAN	W|L	440|413;223;394	.|ENSP00000296792:R413L;ENSP00000440796:R223L;ENSP00000424609:R394L	.|ENSP00000296792:R413L	G|R	+|+	1|2	0|0	UTP15|UTP15	72910689|72910689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.810000|8.810000	0.91950|0.91950	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	GGG|CGG	.		0.378	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		T	72874933	G	T	72874933	3	4	9	1	0	0	0	0	1	0	0	0	17146	1116	39	2	1276	2	UTP15	5	72874933	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	72623465	72874933	108040327	26	1268											
APC	324	hgsc.bcm.edu	37	5	112176192	112176192	+	Missense_Mutation	SNP	C	C	A	rs370433763		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr5:112176192C>A	ENST00000457016.1	+	16	5281	c.4901C>A	c.(4900-4902)cCg>cAg	p.P1634Q	APC_ENST00000508376.2_Missense_Mutation_p.P1634Q|APC_ENST00000257430.4_Missense_Mutation_p.P1634Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1634	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.P1634L(1)|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)		AGTTTTACACCGGGGGATGAT	0.448		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.P1634Q	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	APC,NS,carcinoma,0,2	APC	0	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)	c.C4901A						.						108	109	108					5																	112176192		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,	TTACACCGGGGGA	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.4901C>A	5.37:g.112176192C>A	ENSP00000413133:p.Pro1634Gln	38	0		49	2	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801662	0.31869	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89123	-2.47;-2.47;-2.47	5.61	5.61	0.85477	.	0.101742	0.64402	D	0.000002	D	0.83806	0.5334	N	0.14661	0.345	0.37087	D	0.899253	D;D	0.55800	0.973;0.973	P;P	0.49561	0.615;0.615	D	0.84786	0.0776	9	.	.	.	-16.2812	14.4837	0.67599	0.1468:0.8532:0.0:0.0	.	1636;1634	Q4LE70;P25054	.;APC_HUMAN	Q	1634	ENSP00000413133:P1634Q;ENSP00000257430:P1634Q;ENSP00000427089:P1634Q	.	P	+	2	0	APC	112204091	0.959000	0.32827	1.000000	0.80357	0.976000	0.68499	2.142000	0.42177	2.668000	0.90789	0.650000	0.86243	CCG	.		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112176192	C	A	112176192	3	1	9	1	0	0	0	0	1	0	0	0	763	652	23	2	4959	2	APC	5	112176192	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	39301259	112176192	68739068	27	1269											
GEMIN5	25929	hgsc.bcm.edu	37	5	154270801	154270801	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr5:154270801C>T	ENST00000285873.7	-	26	4337	c.4262G>A	c.(4261-4263)tGt>tAt	p.C1421Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1421					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)	p.C1421F(1)		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)			CAGTACTTACCACTGGCTCTG	0.483																																					p.C1421Y		.											GEMIN5,NS,carcinoma,0,1	GEMIN5	0	1	Substitution - Missense(1)	lung(1)	c.G4262A						.						133	129	130					5																	154270801		2203	4300	6503	SO:0001630	splice_region_variant	25929	exon26			ACTTACCACTGGC	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.4262+1G>A	5.37:g.154270801C>T		14	0		16	2	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.830012	0.00584	.	.	ENSG00000082516	ENST00000285873	T	0.70749	-0.51	5.5	1.6	0.23607	.	1.876250	0.01645	N	0.024287	T	0.53110	0.1776	N	0.22421	0.69	0.18873	N	0.999989	B;B	0.29955	0.263;0.263	B;B	0.24541	0.054;0.054	T	0.37776	-0.9691	9	.	.	.	2.6483	1.9785	0.03421	0.2704:0.4357:0.1398:0.1541	.	1420;1421	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	1421	ENSP00000285873:C1421Y	.	C	-	2	0	GEMIN5	154250994	0.613000	0.27009	0.378000	0.26068	0.252000	0.25951	0.870000	0.28010	0.342000	0.23796	0.655000	0.94253	TGT	.		0.483	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		Missense_Mutation	T	154270801	C	T	154270801	5	4	9	1	0	0	0	0	0	0	1	0	6357	608	21	3	276	3	GEMIN5	5	154270801	Splice_Site	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	42094609	154270801	26644459	28	1270											
MRPL22	29093	hgsc.bcm.edu	37	5	154336753	154336753	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr5:154336753G>T	ENST00000523037.1	+	5	361	c.320G>T	c.(319-321)gGg>gTg	p.G107V	MRPL22_ENST00000522038.1_Missense_Mutation_p.G113V|MRPL22_ENST00000439747.3_Missense_Mutation_p.G133V|MRPL22_ENST00000265229.8_Missense_Mutation_p.G27V	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	107					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)			GACAAAAAAGGGGCCAAAATA	0.383																																					p.G107V		.											.	.	.	0			c.G320T						.						97	107	103					5																	154336753		2203	4300	6503	SO:0001583	missense	29093	exon5			AAAAAGGGGCCAA	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.320G>T	5.37:g.154336753G>T	ENSP00000431040:p.Gly107Val	68	0		99	4	NM_014180	A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	ENST00000523037.1	37	CCDS4331.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912476	0.92178	.	.	ENSG00000082515	ENST00000523037;ENST00000265229;ENST00000439747;ENST00000522038	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.56340	1.77	0.80722	D	1	P	0.41080	0.737	P	0.57152	0.814	T	0.52990	-0.8501	10	0.39692	T	0.17	-12.9374	19.276	0.94031	0.0:0.0:1.0:0.0	.	107	Q9NWU5	RM22_HUMAN	V	107;27;133;113	ENSP00000431040:G107V;ENSP00000265229:G27V;ENSP00000411177:G133V;ENSP00000429039:G113V	ENSP00000265229:G27V	G	+	2	0	MRPL22	154316946	1.000000	0.71417	0.933000	0.37362	0.939000	0.58152	9.088000	0.94132	2.549000	0.85964	0.591000	0.81541	GGG	.		0.383	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			T	154336753	G	T	154336753	3	4	9	1	0	0	0	0	1	0	0	0	9826	1232	43	3	338	3	MRPL22	5	154336753	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	65952	154336753	26578507	29	1271											
PHIP	55023	hgsc.bcm.edu	37	6	79707219	79707219	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr6:79707219C>T	ENST00000275034.4	-	19	2280	c.2113G>A	c.(2113-2115)Gca>Aca	p.A705T		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	705					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.A705T(2)		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)		CTTCTTGGTGCGTTGCTGTGC	0.498																																					p.A705T		.											PHIP,colon,carcinoma,0,2	PHIP	0	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2113A						.						247	212	224					6																	79707219		2203	4300	6503	SO:0001583	missense	55023	exon19			TTGGTGCGTTGCT	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.2113G>A	6.37:g.79707219C>T	ENSP00000275034:p.Ala705Thr	50	0		38	3	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780506	0.90195	.	.	ENSG00000146247	ENST00000275034	T	0.29917	1.55	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000003	T	0.45637	0.1352	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.985	T	0.38887	-0.9640	9	.	.	.	-14.6205	17.1852	0.86865	0.0:1.0:0.0:0.0	.	705;705	A7J992;Q8WWQ0	.;PHIP_HUMAN	T	705	ENSP00000275034:A705T	.	A	-	1	0	PHIP	79763938	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	7.487000	0.81328	2.264000	0.75181	0.655000	0.94253	GCA	.		0.498	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			T	79707219	C	T	79707219	3	4	9	1	0	0	0	0	1	0	0	0	11881	768	27	1	3440	1	PHIP	6	79707219	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		79707219	91407848	30	1272											
FAM46A	55603	broad.mit.edu	37	6	82461728	82461742	+	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG	-	rs375746695	byFrequency	TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr6:82461728_82461742delCCGCCGAAGTCGCCG	ENST00000320172.6	-	2	431_445	c.117_131delCGGCGACTTCGGCGG	c.(115-132)ggcggcgacttcggcggt>ggt	p.39_44GGDFGG>G	FAM46A_ENST00000369756.3_In_Frame_Del_p.120_125GGDFGG>G|FAM46A_ENST00000369754.3_In_Frame_Del_p.58_63GGDFGG>G	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	39			Missing. {ECO:0000269|PubMed:12054608, ECO:0000269|PubMed:16545789}.		regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		gctgccgccaccgccgaagtcgccgccgccgaagt	0.67																																					p.39_44del													FAM46A,colon,carcinoma,+1,1	FAM46A	37	0			c.117_131del						.																																			SO:0001651	inframe_deletion	55603	exon2			CCGCCACCGCCGA	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.117_131delCGGCGACTTCGGCGG	6.37:g.82461728_82461742delCCGCCGAAGTCGCCG	ENSP00000318298:p.Gly39_Gly43del	4	0		5	1	NM_017633	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	In_Frame_Del	DEL	ENST00000320172.6	37	CCDS34489.1																																																																																			.		0.67	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			-	82461742	CCGCCGAAGTCGCCG	-	82461728	7	5	9	1	0	1	0	1	0	0	0	0	5587	507	18	0	1205	0	FAM46A	6	82461728	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	TCGA-W5-AA2H-01A-31D-A417-09	2754509	82461728	88653339	31	1273											
VNN2	8875	hgsc.bcm.edu	37	6	133070863	133070863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr6:133070863C>A	ENST00000326499.6	-	6	1466	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	VNN2_ENST00000525289.1_Nonsense_Mutation_p.E227*|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Nonsense_Mutation_p.E395*	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	448					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)	p.E448K(1)		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)		AGATGAATTTCGGTAAGTAGC	0.373																																					p.E448X		.											VNN2,face,carcinoma,0,2	VNN2	0	1	Substitution - Missense(1)	skin(1)	c.G1342T						.						65	61	62					6																	133070863		2203	4300	6503	SO:0001587	stop_gained	8875	exon6			GAATTTCGGTAAG	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.1342G>T	6.37:g.133070863C>A	ENSP00000322276:p.Glu448*	69	0		48	2	NM_004665	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Nonsense_Mutation	SNP	ENST00000326499.6	37	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.844010	0.71488	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	.	.	.	5.29	-1.6	0.08426	.	0.852623	0.10092	N	0.716989	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.068	6.3761	0.21509	0.1161:0.479:0.0:0.405	.	.	.	.	X	448;395;227	.	ENSP00000322276:E448X	E	-	1	0	VNN2	133112556	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-0.258000	0.08733	-0.773000	0.04596	-0.136000	0.14681	GAA	.		0.373	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			A	133070863	C	A	133070863	4	1	9	1	0	0	0	0	0	1	0	0	17232	893	31	2	228	2	VNN2	6	133070863	Nonsense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	50609135	133070863	38044204	32	1274											
SLC2A12	154091	bcgsc.ca	37	6	134350693	134350693	+	Silent	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr6:134350693G>T	ENST00000275230.5	-	2	425	c.270C>A	c.(268-270)gcC>gcA	p.A90A		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	90					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AGGCAAGGAGGGCTCCAATGA	0.512																																					p.A90A	Melanoma(122;1663 1672 14489 35294 41228)												.	SLC2A12	43	0			c.C270A						.						94	89	90					6																	134350693		2203	4300	6503	SO:0001819	synonymous_variant	154091	exon2			AAGGAGGGCTCCA	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.270C>A	6.37:g.134350693G>T		20	0		10	3	NM_145176	B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	ENST00000275230.5	37	CCDS5169.1																																																																																			.		0.512	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			T	134350693	G	T	134350693	2	4	9	1	0	0	0	0	0	0	0	1	14586	1219	43	3		3	SLC2A12	6	134350693	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	1279830	134350693	36764374	33	1275											
STXBP5	134957	ucsc.edu	37	6	147648314	147648314	+	Missense_Mutation	SNP	C	C	T	rs368337313		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr6:147648314C>T	ENST00000321680.6	+	18	1982	c.1982C>T	c.(1981-1983)gCa>gTa	p.A661V	STXBP5_ENST00000367480.3_Missense_Mutation_p.A661V|STXBP5_ENST00000179882.6_Missense_Mutation_p.A332V|STXBP5_ENST00000367481.3_Missense_Mutation_p.A661V	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	661					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)		CTCCAGAAAGCAGTGCTGCTC	0.433																																					p.A661V													.	STXBP5	163	0			c.C1982T						.						142	134	136					6																	147648314		2203	4300	6503	SO:0001583	missense	134957	exon18			AGAAAGCAGTGCT	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.1982C>T	6.37:g.147648314C>T	ENSP00000321826:p.Ala661Val	21	0		39	4	NM_139244	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619583	0.66787	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.65732	2.61;2.63;2.7;-0.17	6.07	6.07	0.98685	.	0.157793	0.64402	D	0.000020	T	0.41026	0.1141	N	0.22421	0.69	0.47905	D	0.999542	B;B;B;B	0.24882	0.021;0.11;0.113;0.055	B;B;B;B	0.29862	0.033;0.108;0.046;0.03	T	0.27571	-1.0070	10	0.25751	T	0.34	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	661;2;661;332	Q5T5C0-2;Q5JRH1;Q5T5C0;B3KXX0	.;.;STXB5_HUMAN;.	V	8;661;661;661;332	ENSP00000356451:A661V;ENSP00000321826:A661V;ENSP00000356450:A661V;ENSP00000179882:A332V	ENSP00000179882:A332V	A	+	2	0	STXBP5	147690007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.959000	0.70339	2.890000	0.99128	0.585000	0.79938	GCA	.		0.433	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			T	147648314	C	T	147648314	3	4	9	1	0	0	0	0	1	0	0	0	15403	710	25	3	2052	3	STXBP5	6	147648314	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	13297621	147648314	23466753	34	1276											
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	157522560	157522560	+	Missense_Mutation	SNP	G	G	A	rs3210165		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr6:157522560G>A	ENST00000350026.5	+	17	4794	c.4793G>A	c.(4792-4794)gGc>gAc	p.G1598D	ARID1B_ENST00000275248.4_Missense_Mutation_p.G1593D|ARID1B_ENST00000346085.5_Missense_Mutation_p.G1611D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G1651D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1598					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)		TTTCCTCCTGGCTCAGTAGAA	0.493																																					p.G1611D		.											.	.	.	0			c.G4832A						.						115	113	114					6																	157522560		2203	4296	6499	SO:0001583	missense	57492	exon18			CTCCTGGCTCAGT	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.4793G>A	6.37:g.157522560G>A	ENSP00000055163:p.Gly1598Asp	39	0		41	4	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936170	0.52972	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.01963	4.78;4.7;4.8;4.77;4.53	4.94	4.94	0.65067	.	0.052800	0.85682	D	0.000000	T	0.01835	0.0058	L	0.35593	1.075	0.80722	D	1	P;P;P	0.46327	0.803;0.876;0.876	B;P;P	0.48166	0.365;0.569;0.569	T	0.72080	-0.4398	10	0.18710	T	0.47	.	18.5459	0.91045	0.0:0.0:1.0:0.0	.	1598;1611;1593	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	D	1611;1598;1651;1593;1120	ENSP00000344546:G1611D;ENSP00000055163:G1598D;ENSP00000356116:G1651D;ENSP00000275248:G1593D;ENSP00000412835:G1120D	ENSP00000275248:G1593D	G	+	2	0	ARID1B	157564252	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.558000	0.82253	2.459000	0.83118	0.655000	0.94253	GGC	.		0.493	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		A	157522560	G	A	157522560	3	1	9	1	0	0	0	0	1	0	0	0	914	1203	42	3	4902	3	ARID1B	6	157522560	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	9874246	157522560	13592507	35	1277											
TBP	6908	hgsc.bcm.edu	37	6	170871016	170871016	+	Silent	SNP	G	G	A	rs542031948		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000230354.6_Silent_p.Q64Q|TBP_ENST00000540980.1_Silent_p.Q44Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	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)			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)		aacaacaacagcagcagcagc	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		14897	0		0	False		,,,				2504	0				p.Q64Q		.											TBP,NS,carcinoma,0,2	TBP	0	0			c.G192A						.						31	35	33					6																	170871016		2202	4292	6494	SO:0001819	synonymous_variant	6908	exon3			ACAACAGCAGCAG	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.192G>A	6.37:g.170871016G>A		27	1		28	3	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.557	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871016	G	A	170871016	2	1	9	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871016	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	13348456	170871016	244051	36	1278											
ICA1	3382	hgsc.bcm.edu	37	7	8268281	8268281	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr7:8268281G>T	ENST00000402384.3	-	4	472	c.206C>A	c.(205-207)aCc>aAc	p.T69N	ICA1_ENST00000401396.1_Missense_Mutation_p.T57N|ICA1_ENST00000406470.2_Missense_Mutation_p.T69N|ICA1_ENST00000265577.7_Missense_Mutation_p.T68N|ICA1_ENST00000422063.2_Missense_Mutation_p.T69N|ICA1_ENST00000396675.3_Missense_Mutation_p.T69N|ICA1_ENST00000407906.1_Missense_Mutation_p.T69N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	69	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)		GTCCAGACAGGTTCTCTGAAT	0.303																																					p.T69N		.											ICA1,rectum,carcinoma,0,1	ICA1	0	0			c.C206A						.						89	84	86					7																	8268281		2202	4297	6499	SO:0001583	missense	3382	exon4			AGACAGGTTCTCT		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.206C>A	7.37:g.8268281G>T	ENSP00000385570:p.Thr69Asn	10	0		23	2	NM_022307	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049382	0.93740	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367;ENST00000447326;ENST00000430867;ENST00000446305	T;T;T;T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.96	5.96	0.96718	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.88782	0.6530	M	0.76170	2.325	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;0.999;0.999;1.0	P;D;D;D;D	0.87578	0.718;0.99;0.976;0.976;0.998	D	0.88592	0.3144	10	0.72032	D	0.01	-16.0965	20.422	0.99049	0.0:0.0:1.0:0.0	.	69;69;68;69;57	B3FTQ2;E7ENI6;Q96HG3;Q05084;E9PDL4	.;.;.;ICA69_HUMAN;.	N	69;69;68;69;57;69;69;57;69;68;68	ENSP00000385570:T69N;ENSP00000385651:T69N;ENSP00000265577:T68N;ENSP00000379908:T69N;ENSP00000385305:T57N;ENSP00000403982:T69N;ENSP00000386021:T69N;ENSP00000316074:T57N;ENSP00000398435:T69N;ENSP00000397496:T68N;ENSP00000406722:T68N	ENSP00000265577:T68N	T	-	2	0	ICA1	8234806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.965000	0.93393	2.832000	0.97577	0.655000	0.94253	ACC	.		0.303	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		T	8268281	G	T	8268281	3	4	9	1	0	0	0	0	1	0	0	0	7504	1261	44	3	1289	3	ICA1	7	8268281	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		8268281	150870382	37	1279											
UPP1	7378	hgsc.bcm.edu;bcgsc.ca	37	7	48139352	48139352	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr7:48139352C>A	ENST00000331803.4	+	5	753	c.130C>A	c.(130-132)Cac>Aac	p.H44N	UPP1_ENST00000341253.4_Missense_Mutation_p.H44N|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.H44N|UPP1_ENST00000429491.2_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	44					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)	CACTAGCAGACACAATTTCCC	0.393																																					p.H44N		.											.	.	.	0			c.C130A						.						146	147	147					7																	48139352		2203	4300	6503	SO:0001583	missense	7378	exon4			AGCAGACACAATT	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.130C>A	7.37:g.48139352C>A	ENSP00000330032:p.His44Asn	62	0		60	4	NM_003364	D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658624	0.67586	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.72479	2.2	0.80722	D	1	D;B	0.89917	1.0;0.444	D;B	0.87578	0.998;0.253	T	0.59053	-0.7526	10	0.27785	T	0.31	-34.8995	18.5485	0.91055	0.0:1.0:0.0:0.0	.	44;44	B4DND0;Q16831	.;UPP1_HUMAN	N	44	ENSP00000405209:H44N;ENSP00000330032:H44N;ENSP00000342878:H44N;ENSP00000378931:H44N;ENSP00000390118:H44N	ENSP00000330032:H44N	H	+	1	0	UPP1	48105877	1.000000	0.71417	0.104000	0.21259	0.902000	0.53008	5.627000	0.67784	2.611000	0.88343	0.563000	0.77884	CAC	.		0.393	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		A	48139352	C	A	48139352	3	1	9	1	0	0	0	0	1	0	0	0	17061	478	17	3	136	3	UPP1	7	48139352	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	39871071	48139352	110999311	38	1280											
PEX1	5189	hgsc.bcm.edu	37	7	92122368	92122368	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr7:92122368C>A	ENST00000248633.4	-	20	3201	c.3106G>T	c.(3106-3108)Gca>Tca	p.A1036S	PEX1_ENST00000428214.1_Missense_Mutation_p.A979S|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.A714S	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1036					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)			GTTACTGATGCTACATGCTGA	0.423																																					p.A1036S		.											.	.	.	0			c.G3106T						.						128	123	125					7																	92122368		2203	4300	6503	SO:0001583	missense	5189	exon20			CTGATGCTACATG	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.3106G>T	7.37:g.92122368C>A	ENSP00000248633:p.Ala1036Ser	57	0		57	4	NM_000466	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232167	0.79688	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.96200	-3.94;-3.94;-3.94	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.97002	0.9021	M	0.64676	1.99	0.80722	D	1	D;D;P	0.63880	0.977;0.993;0.874	P;P;P	0.61070	0.883;0.869;0.621	D	0.97024	0.9745	10	0.66056	D	0.02	-17.5887	20.0011	0.97409	0.0:1.0:0.0:0.0	.	714;828;1036	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	S	714;1036;979	ENSP00000410438:A714S;ENSP00000248633:A1036S;ENSP00000394413:A979S	ENSP00000248633:A1036S	A	-	1	0	PEX1	91960304	1.000000	0.71417	0.996000	0.52242	0.080000	0.17528	7.606000	0.82863	2.727000	0.93392	0.585000	0.79938	GCA	.		0.423	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		A	92122368	C	A	92122368	3	1	9	1	0	0	0	0	1	0	0	0	11774	797	28	3	765	3	PEX1	7	92122368	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	43983016	92122368	67016295	39	1281											
C7orf58	79974	hgsc.bcm.edu;bcgsc.ca	37	7	120773877	120773877	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr7:120773877G>T	ENST00000310396.5	+	13	2045	c.1578G>T	c.(1576-1578)tgG>tgT	p.W526C	CPED1_ENST00000423795.1_Splice_Site_p.W306C|CPED1_ENST00000450913.2_Splice_Site_p.W526C	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	526						endoplasmic reticulum (GO:0005783)											GCATTTGCAGGAATTCTTTCA	0.323																																					p.W526C		.											.	.	.	0			c.G1578T						.						94	98	96					7																	120773877		2203	4300	6503	SO:0001630	splice_region_variant	79974	exon12			TTGCAGGAATTCT		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.1578-1G>T	7.37:g.120773877G>T		39	0		58	4	NM_001105533	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571198	0.45798	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.56444	2.07;0.46;1.74;1.74;1.15	5.44	5.44	0.79542	.	0.606923	0.17951	N	0.156485	T	0.70527	0.3234	M	0.71581	2.175	0.80722	D	1	B;D;B	0.89917	0.026;1.0;0.01	B;D;B	0.66351	0.025;0.943;0.013	T	0.69038	-0.5251	9	.	.	.	.	16.4088	0.83699	0.0:0.0:1.0:0.0	.	306;526;526	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	C	526;526;526;306;306	ENSP00000309772:W526C;ENSP00000398082:W526C;ENSP00000406122:W526C;ENSP00000415573:W306C;ENSP00000391952:W306C	.	W	+	3	0	C7orf58	120561113	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.246000	0.65411	2.718000	0.92993	0.650000	0.86243	TGG	.		0.323	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	Missense_Mutation	T	120773877	G	T	120773877	5	4	9	1	0	0	0	0	0	0	1	0	2412	1188	41	3	1624	3	C7orf58	7	120773877	Splice_Site	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	28651509	120773877	38364786	40	1282											
CDCA2	157313	hgsc.bcm.edu	37	8	25317954	25317954	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr8:25317954C>T	ENST00000330560.3	+	3	593	c.116C>T	c.(115-117)gCc>gTc	p.A39V	KCTD9_ENST00000518067.1_5'Flank|KCTD9_ENST00000221200.4_5'Flank|CDCA2_ENST00000380665.3_Missense_Mutation_p.A24V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	39					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A39V(1)		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)		CAGAAGCATGCCGAATTACCT	0.428																																					p.A39V		.											CDCA2,NS,carcinoma,0,1	CDCA2	0	1	Substitution - Missense(1)	kidney(1)	c.C116T						.						237	231	233					8																	25317954		2203	4300	6503	SO:0001583	missense	157313	exon3			AGCATGCCGAATT	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.116C>T	8.37:g.25317954C>T	ENSP00000328228:p.Ala39Val	47	0		33	2	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221746	0.58560	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000435898	T;T	0.36340	1.26;1.26	5.19	4.32	0.51571	.	0.306968	0.23768	N	0.044756	T	0.44414	0.1292	L	0.53249	1.67	0.09310	N	1	P;P;P	0.50272	0.933;0.933;0.933	P;P;P	0.51324	0.461;0.666;0.666	T	0.35251	-0.9796	10	0.72032	D	0.01	-8.3448	11.8981	0.52667	0.0:0.8243:0.1756:0.0	.	39;24;39	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	V	39;24;39	ENSP00000328228:A39V;ENSP00000370040:A24V	ENSP00000328228:A39V	A	+	2	0	CDCA2	25373871	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.603000	0.24149	1.165000	0.42670	-0.273000	0.10243	GCC	.		0.428	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		T	25317954	C	T	25317954	3	4	9	1	0	0	0	0	1	0	0	0	3093	739	26	3	122	3	CDCA2	8	25317954	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		25317954	121046068	41	1283											
FER1L6	654463	ucsc.edu	37	8	125081641	125081641	+	Silent	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr8:125081641G>T	ENST00000522917.1	+	29	3965	c.3759G>T	c.(3757-3759)ggG>ggT	p.G1253G	FER1L6_ENST00000399018.1_Silent_p.G1253G|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1253						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)			TAGAAGATGGGCCAAAGAAGA	0.458																																					p.G1253G													.	FER1L6	268	0			c.G3759T						.						164	160	161					8																	125081641		1902	4116	6018	SO:0001819	synonymous_variant	654463	exon29			AGATGGGCCAAAG	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.3759G>T	8.37:g.125081641G>T		32	0		34	4	NM_001039112		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																			.		0.458	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125081641	G	T	125081641	2	4	9	1	0	0	0	0	0	0	0	1	5837	1190	42	3		3	FER1L6	8	125081641	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	99763687	125081641	21282381	42	1284											
TEK	7010	hgsc.bcm.edu	37	9	27202967	27202967	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr9:27202967G>T	ENST00000380036.4	+	13	2501	c.2059G>T	c.(2059-2061)Gtg>Ttg	p.V687L	TEK_ENST00000406359.4_Missense_Mutation_p.V644L|TEK_ENST00000519097.1_Missense_Mutation_p.V540L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	687	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	GCACGTTGATGTGAAGATAAA	0.428																																					p.V687L		.											TEK_ENST00000380036,colon,carcinoma,0,2	TEK_ENST00000380036	0	0			c.G2059T						.						172	146	155					9																	27202967		2203	4300	6503	SO:0001583	missense	7010	exon13			GTTGATGTGAAGA	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.2059G>T	9.37:g.27202967G>T	ENSP00000369375:p.Val687Leu	24	0		45	3	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463262	0.43736	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.17054	2.3;2.3;2.3	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.161017	0.29767	N	0.011257	T	0.09113	0.0225	N	0.12182	0.205	0.32321	N	0.562375	P;B;P;P	0.42409	0.552;0.09;0.779;0.76	B;B;B;B	0.38985	0.187;0.158;0.287;0.253	T	0.09930	-1.0652	10	0.20046	T	0.44	.	9.9685	0.41738	0.156:0.0:0.844:0.0	.	540;720;644;687	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	L	540;687;644	ENSP00000430686:V540L;ENSP00000369375:V687L;ENSP00000383977:V644L	ENSP00000369375:V687L	V	+	1	0	TEK	27192967	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	2.387000	0.44389	2.732000	0.93576	0.637000	0.83480	GTG	.		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27202967	G	T	27202967	3	4	9	1	0	0	0	0	1	0	0	0	15798	1377	48	3	2109	3	TEK	9	27202967	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		27202967	114010464	43	1285											
ADAMTSL2	9719	hgsc.bcm.edu	37	9	136404934	136404934	+	Silent	SNP	C	C	T	rs558563166	byFrequency	TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr9:136404934C>T	ENST00000354484.4	+	5	908	c.351C>T	c.(349-351)tgC>tgT	p.C117C	ADAMTSL2_ENST00000393060.1_Silent_p.C117C|ADAMTSL2_ENST00000393061.3_Silent_p.C226C	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	117					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)		AGGAGCAGTGCGTCTCCTTCA	0.652													C|||	2	0.000399361	0	0	5008	,	,		16099	0		0	False		,,,				2504	0.002				p.C117C		.											.	.	.	0			c.C351T						.						44	37	40					9																	136404934		1928	3728	5656	SO:0001819	synonymous_variant	9719	exon5			GCAGTGCGTCTCC	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.351C>T	9.37:g.136404934C>T		61	0		68	4	NM_014694	B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	CCDS6976.1																																																																																			.		0.652	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		T	136404934	C	T	136404934	2	4	9	1	0	0	0	0	0	0	0	1	275	776	27	1		1	ADAMTSL2	9	136404934	Silent	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	109201967	136404934	4808497	44	1286											
CACNB2	783	ucsc.edu	37	10	18690927	18690927	+	Silent	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr10:18690927C>T	ENST00000324631.7	+	3	348	c.288C>T	c.(286-288)cgC>cgT	p.R96R	CACNB2_ENST00000377319.3_Silent_p.R41R|CACNB2_ENST00000352115.6_Silent_p.R96R|CACNB2_ENST00000377315.4_Silent_p.R48R|CACNB2_ENST00000377329.4_Silent_p.R42R|CACNB2_ENST00000377331.2_Silent_p.R68R|CACNB2_ENST00000377328.1_Silent_p.R96R|CACNB2_ENST00000282343.8_Silent_p.R68R|CACNB2_ENST00000396576.2_Silent_p.R41R	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	96					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)	AGGCAGTGCGCAGAGAAGCGG	0.527																																					p.R96R													.	CACNB2	220	0			c.C288T						.						73	62	66					10																	18690927		2203	4300	6503	SO:0001819	synonymous_variant	783	exon3			AGTGCGCAGAGAA	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.288C>T	10.37:g.18690927C>T		22	0		38	4	NM_201596	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	CCDS7125.1																																																																																			.		0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		T	18690927	C	T	18690927	2	4	9	1	0	0	0	0	0	0	0	1	2560	697	25	3		3	CACNB2	10	18690927	Silent	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		18690927	116843820	45	1287											
PTCHD3	374308	hgsc.bcm.edu	37	10	27702894	27702923	+	In_Frame_Del	DEL	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	-	rs34349277|rs371045387|rs201821343	byFrequency	TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr10:27702894_27702923delGGGGTGCATCGTCCAGCTCCAGCGGCAGGC	ENST00000438700.3	-	1	374_403	c.257_286delGCCTGCCGCTGGAGCTGGACGATGCACCCC	c.(256-288)cgcctgccgctggagctggacgatgcacccctg>ctg	p.RLPLELDDAP86del		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	86					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.P88P(1)		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						TCCTCCGGCAGGGGTGCATCGTCCAGCTCCAGCGGCAGGCGGGGTGCATC	0.704																																					p.86_96del		.											.	.	.	1	Substitution - coding silent(1)	endometrium(1)	c.258_287del						.			7,4255		1,5,2125						-3.5	0			34	78,8172		8,62,4055	no	coding	PTCHD3	NM_001034842.3		9,67,6180	A1A1,A1R,RR		0.9455,0.1642,0.6793				85,12427				SO:0001651	inframe_deletion	374308	exon1			CCGGCAGGGGTGC	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.257_286delGCCTGCCGCTGGAGCTGGACGATGCACCCC	10.37:g.27702894_27702923delGGGGTGCATCGTCCAGCTCCAGCGGCAGGC	ENSP00000417658:p.Arg86_Pro95del	10	0		16	2	NM_001034842	I3L499|Q6ZU28	In_Frame_Del	DEL	ENST00000438700.3	37	CCDS31173.1																																																																																			.		0.704	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		-	27702923	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	-	27702894	7	5	9	1	0	1	0	1	0	0	0	0	12776	991	35	0	2033	0	PTCHD3	10	27702894	In_Frame_Del	DEL	GGGGTGCATCGTCCAGCTCCAGCGGCAGGC	TCGA-W5-AA2H-01A-31D-A417-09	9011967	27702894	107831853	46	1288											
GPR123	84435	hgsc.bcm.edu;bcgsc.ca	37	10	134916323	134916323	+	Silent	SNP	G	G	A	rs368145789		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr10:134916323G>A	ENST00000392607.3	+	5	814	c.378G>A	c.(376-378)ccG>ccA	p.P126P	GPR123_ENST00000607359.1_Silent_p.P846P|GPR123_ENST00000392606.2_Silent_p.P29P	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	126					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)		ACCAGCCACCGTACCCCAGGC	0.627																																					p.P126P		.											.	.	.	0			c.G378A						.	G		1,4405	2.1+/-5.4	0,1,2202	61	47	51		378	-5.5	0	10		51	0,8600		0,0,4300	no	coding-synonymous	GPR123	NM_001083909.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		126/561	134916323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84435	exon5			GCCACCGTACCCC	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.378G>A	10.37:g.134916323G>A		52	0		58	4	NM_001083909	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	CCDS41580.1																																																																																			.		0.627	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			A	134916323	G	A	134916323	2	1	9	1	0	0	0	0	0	0	0	1	6663	1132	40	1		1	GPR123	10	134916323	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	107213429	134916323	618424	47	1289											
MUC2	4583	bcgsc.ca	37	11	1093312	1093312	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr11:1093312C>G	ENST00000441003.2	+	30	5158	c.5131C>G	c.(5131-5133)Cca>Gca	p.P1711A	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1678A	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)	gaccccaaccccaacacccac	0.637																																					p.P1711A													.	MUC2	614	0			c.C5131G						.						145	191	175					11																	1093312		1907	3560	5467	SO:0001583	missense	4583	exon30			CCAACCCCAACAC	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.5131C>G	11.37:g.1093312C>G	ENSP00000415183:p.Pro1711Ala	300	11		329	18	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.304	-0.972196	0.02215	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.08458	3.09;3.11	1.4	-2.79	0.05841	.	0.190326	0.20108	U	0.099085	T	0.02533	0.0077	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.41106	-0.9527	9	0.08179	T	0.78	.	2.4144	0.04432	0.4935:0.3028:0.0:0.2036	.	1711	E7EUV1	.	A	1711;1678	ENSP00000415183:P1711A;ENSP00000351956:P1678A	ENSP00000351956:P1678A	P	+	1	0	MUC2	1083312	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-5.838000	0.00095	-0.673000	0.05259	-1.098000	0.02139	CCA	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093312	C	G	1093312	3	3	9	1	0	0	0	0	1	0	0	0	10013	623	22	5	5249	5	MUC2	11	1093312	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		1093312	133913204	48	1290											
C11orf41	25758	hgsc.bcm.edu	37	11	33689544	33689544	+	Silent	SNP	G	G	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr11:33689544G>A	ENST00000321505.4	+	20	5574	c.5394G>A	c.(5392-5394)gcG>gcA	p.A1798A	RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Silent_p.A1804A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1798						integral component of membrane (GO:0016021)											AGGCCCCGGCGCCCTCCACAG	0.677																																					p.A1798A		.											C11orf41_ENST00000321505,caecum,carcinoma,0,1	C11orf41_ENST00000321505	0	0			c.G5394A						.						32	39	37					11																	33689544		2026	4187	6213	SO:0001819	synonymous_variant	25758	exon20			CCCGGCGCCCTCC	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.5394G>A	11.37:g.33689544G>A		17	0		19	2	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																			.		0.677	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		A	33689544	G	A	33689544	2	1	9	1	0	0	0	0	0	0	0	1	1645	1074	38	1		1	C11orf41	11	33689544	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	32596232	33689544	101316972	49	1291											
SLC22A12	116085	hgsc.bcm.edu	37	11	64367324	64367324	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr11:64367324C>T	ENST00000377574.1	+	7	1994	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	SLC22A12_ENST00000377572.1_Missense_Mutation_p.A308V|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A308V|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A382V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.A195V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	416					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)	CTGTTGCTGGCAGGGCTCTGC	0.657																																					p.A416V		.											SLC22A12,caecum,carcinoma,0,1	SLC22A12	0	0			c.C1247T						.						26	25	26					11																	64367324		2199	4294	6493	SO:0001583	missense	116085	exon7			TGCTGGCAGGGCT	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.1247C>T	11.37:g.64367324C>T	ENSP00000366797:p.Ala416Val	14	0		12	2	NM_144585	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166493	0.57476	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.74421	-0.84;0.27;-0.84;-0.84;-0.84	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.280435	0.33650	N	0.004684	T	0.75671	0.3881	L	0.58969	1.84	0.23515	N	0.997515	P;P;P	0.47762	0.549;0.9;0.549	B;P;B	0.47645	0.259;0.553;0.364	T	0.70088	-0.4968	10	0.42905	T	0.14	.	15.1841	0.72986	0.0:1.0:0.0:0.0	.	382;308;416	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	V	308;416;308;195;382	ENSP00000366790:A308V;ENSP00000366797:A416V;ENSP00000366795:A308V;ENSP00000438437:A195V;ENSP00000336836:A382V	ENSP00000336836:A382V	A	+	2	0	SLC22A12	64123900	0.066000	0.20996	0.265000	0.24526	0.004000	0.04260	3.547000	0.53663	2.169000	0.68431	0.511000	0.50034	GCA	.		0.657	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		T	64367324	C	T	64367324	3	4	9	1	0	0	0	0	1	0	0	0	14488	710	25	3	1273	3	SLC22A12	11	64367324	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	30677780	64367324	70639192	50	1292											
SCYL1	57410	hgsc.bcm.edu	37	11	65303776	65303776	+	Missense_Mutation	SNP	C	C	T	rs377549319		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr11:65303776C>T	ENST00000270176.5	+	12	1699	c.1622C>T	c.(1621-1623)tCg>tTg	p.S541L	SCYL1_ENST00000524944.1_Missense_Mutation_p.S541L|SCYL1_ENST00000527009.1_Missense_Mutation_p.S398L|SCYL1_ENST00000279270.6_Missense_Mutation_p.S541L|SCYL1_ENST00000420247.2_Missense_Mutation_p.S541L|SCYL1_ENST00000525364.1_Missense_Mutation_p.S541L|SCYL1_ENST00000533862.1_Missense_Mutation_p.S541L	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	541					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)	p.S541L(1)		ovary(1)|skin(1)	2						GAGTCTGTGTCGGAGGACCCG	0.582																																					p.S541L		.											SCYL1_ENST00000270176,caecum,carcinoma,0,1	SCYL1_ENST00000270176	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1622T						.	C	LEU/SER,LEU/SER	1,4057		0,1,2028	66	73	71		1622,1622	5.5	1	11		71	1,8327		0,1,4163	no	missense,missense	SCYL1	NM_001048218.1,NM_020680.3	145,145	0,2,6191	TT,TC,CC		0.012,0.0246,0.0161	probably-damaging,probably-damaging	541/792,541/809	65303776	2,12384	2029	4164	6193	SO:0001583	missense	57410	exon12			CTGTGTCGGAGGA	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.1622C>T	11.37:g.65303776C>T	ENSP00000270176:p.Ser541Leu	17	0		17	2	NM_020680	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993808	0.93167	2.46E-4	1.2E-4	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	T;T;T;T;T;T;T;T;T	0.61859	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;0.07	5.46	5.46	0.80206	Armadillo-type fold (1);	0.319538	0.30093	N	0.010422	T	0.78464	0.4287	M	0.82823	2.61	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	0.83275	0.97;0.996;0.987;0.992;0.991	T	0.81274	-0.1007	10	0.72032	D	0.01	-4.2363	16.7806	0.85562	0.0:1.0:0.0:0.0	.	541;541;541;541;541	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	L	541;541;541;541;541;541;541;541;398;14	ENSP00000270176:S541L;ENSP00000431635:S541L;ENSP00000408192:S541L;ENSP00000437254:S541L;ENSP00000433450:S541L;ENSP00000279270:S541L;ENSP00000432175:S541L;ENSP00000436993:S398L;ENSP00000433604:S14L	ENSP00000270176:S541L	S	+	2	0	SCYL1	65060352	0.998000	0.40836	0.998000	0.56505	0.887000	0.51463	3.943000	0.56621	2.577000	0.86979	0.462000	0.41574	TCG	.		0.582	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		T	65303776	C	T	65303776	3	4	9	1	0	0	0	0	1	0	0	0	13992	893	31	1	1668	1	SCYL1	11	65303776	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	936452	65303776	69702740	51	1293											
NLRX1	79671	hgsc.bcm.edu	37	11	119043116	119043116	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr11:119043116G>A	ENST00000409109.1	+	3	709	c.122G>A	c.(121-123)cGt>cAt	p.R41H	NLRX1_ENST00000292199.2_Missense_Mutation_p.R41H|NLRX1_ENST00000474751.2_Intron|NLRX1_ENST00000525863.1_Missense_Mutation_p.R41H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R41H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R41H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	41					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)	p.R41H(1)		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)		CAAGGGGAGCGTCCCTTTGGG	0.547																																					p.R41H		.											NLRX1,mouth,carcinoma,0,1	NLRX1	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G122A						.						143	127	132					11																	119043116		2200	4295	6495	SO:0001583	missense	79671	exon3			GGGAGCGTCCCTT	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.122G>A	11.37:g.119043116G>A	ENSP00000387334:p.Arg41His	49	0		61	3	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.509888	0.00984	.	.	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.71222	1.49;1.49;1.49;-0.43;-0.43;-0.55;-0.43;-0.55	4.88	-3.32	0.04973	.	1.275670	0.05352	N	0.532126	T	0.43299	0.1241	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16482	-1.0401	10	0.23891	T	0.37	.	5.6314	0.17512	0.5575:0.0:0.2989:0.1435	.	41;41	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	H	41	ENSP00000400268:R41H;ENSP00000402801:R41H;ENSP00000402381:R41H;ENSP00000386851:R41H;ENSP00000292199:R41H;ENSP00000386858:R41H;ENSP00000387334:R41H;ENSP00000433442:R41H	ENSP00000292199:R41H	R	+	2	0	NLRX1	118548326	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.682000	0.05185	-0.776000	0.04578	-1.292000	0.01352	CGT	.		0.547	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119043116	G	A	119043116	3	1	9	1	0	0	0	0	1	0	0	0	10524	1145	40	1	128	1	NLRX1	11	119043116	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	53739340	119043116	15963400	52	1294											
DDX11	1663	broad.mit.edu	37	12	31242073	31242073	+	Silent	SNP	T	T	C	rs201079030	byFrequency	TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr12:31242073T>C	ENST00000407793.2	+	7	1031	c.780T>C	c.(778-780)ctT>ctC	p.L260L	DDX11_ENST00000545668.1_Silent_p.L260L|DDX11_ENST00000228264.6_Silent_p.L234L|DDX11_ENST00000350437.4_Silent_p.L260L|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.L260L	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	260	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)			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)					TGGTCTCCCTTGGCTCCCGGC	0.562										Multiple Myeloma(12;0.14)																											p.L260L													.	DDX11	188	0			c.T780C						.						75	71	72					12																	31242073		2203	4300	6503	SO:0001819	synonymous_variant	1663	exon7			CTCCCTTGGCTCC	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.780T>C	12.37:g.31242073T>C		70	1		75	8	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.595810	0.00857	.	.	ENSG00000013573	ENST00000404673	.	.	.	3.64	-7.27	0.01461	.	.	.	.	.	T	0.30262	0.0759	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.30149	-0.9988	5	0.15499	T	0.54	.	2.8556	0.05571	0.0888:0.2713:0.2659:0.374	.	.	.	.	R	15	.	ENSP00000385471:W15R	W	+	1	0	DDX11	31133340	0.390000	0.25213	0.014000	0.15608	0.005000	0.04900	-0.541000	0.06099	-2.689000	0.00404	-4.583000	0.00004	TGG	.		0.562	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		C	31242073	T	C	31242073	2	2	9	1	0	0	0	0	0	0	0	1	4352	1799	63	4		4	DDX11	12	31242073	Silent	SNP	T	TCGA-W5-AA2H-01A-31D-A417-09		31242073	102609822	53	1295											
GRASP	160622	hgsc.bcm.edu	37	12	52407671	52407671	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr12:52407671C>A	ENST00000293662.4	+	6	639	c.559C>A	c.(559-561)Cta>Ata	p.L187I	GRASP_ENST00000552049.1_Missense_Mutation_p.L44I|GRASP_ENST00000380039.2_Missense_Mutation_p.L44I|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	187	Interaction with PSCD3. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACTGGAAACTCTATATGGGAC	0.542																																					p.L187I		.											GRASP,lower_third,carcinoma,0,1	GRASP	0	0			c.C559A						.						182	188	186					12																	52407671		2203	4300	6503	SO:0001583	missense	160622	exon6			GAAACTCTATATG	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.559C>A	12.37:g.52407671C>A	ENSP00000293662:p.Leu187Ile	20	0		27	2	NM_181711	Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482641	0.26598	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T;T;T	0.41400	2.24;1.0;1.0;1.0	5.1	2.15	0.27550	PDZ/DHR/GLGF (3);	0.068686	0.56097	D	0.000027	T	0.21509	0.0518	N	0.20483	0.58	0.32597	N	0.526474	P;B	0.37207	0.587;0.309	B;B	0.33620	0.146;0.167	T	0.20840	-1.0263	10	0.48119	T	0.1	-8.391	4.2701	0.10782	0.0:0.5289:0.1837:0.2875	.	44;187	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	I	187;44;57;44	ENSP00000293662:L187I;ENSP00000449492:L44I;ENSP00000448476:L57I;ENSP00000369378:L44I	ENSP00000293662:L187I	L	+	1	2	GRASP	50693938	0.975000	0.34042	0.944000	0.38274	0.083000	0.17756	1.852000	0.39348	0.734000	0.32515	0.467000	0.42956	CTA	.		0.542	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			A	52407671	C	A	52407671	3	1	9	1	0	0	0	0	1	0	0	0	6782	912	32	3	581	3	GRASP	12	52407671	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	21165598	52407671	81444224	54	1296											
SLC7A7	9056	hgsc.bcm.edu	37	14	23242838	23242838	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr14:23242838C>T	ENST00000397532.3	-	10	2042	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	SLC7A7_ENST00000555702.1_Missense_Mutation_p.R506Q|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R240Q|SLC7A7_ENST00000285850.7_Missense_Mutation_p.R506Q|SLC7A7_ENST00000397528.4_Missense_Mutation_p.R506Q|SLC7A7_ENST00000397529.2_Missense_Mutation_p.R506Q			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	506					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTTGGGATCCCGTTGCTTGGG	0.478																																					p.R506Q		.											SLC7A7,NS,haematopoietic_neoplasm,0,1	SLC7A7	0	0			c.G1517A						.						151	125	134					14																	23242838		2203	4300	6503	SO:0001583	missense	9056	exon11			GGATCCCGTTGCT	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1517G>A	14.37:g.23242838C>T	ENSP00000380666:p.Arg506Gln	19	0		23	2	NM_001126105	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	0.338	-0.952371	0.02285	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.90844	-2.64;-2.64;-2.64;-2.64;-2.64;-2.74	5.52	-8.7	0.00851	.	4.168150	0.00424	N	0.000065	T	0.69024	0.3065	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.69910	-0.5017	10	0.06625	T	0.88	.	10.6569	0.45680	0.0:0.5827:0.1265:0.2908	.	506	Q9UM01	YLAT1_HUMAN	Q	506;506;506;479;506;506;240	ENSP00000285850:R506Q;ENSP00000451881:R506Q;ENSP00000380666:R506Q;ENSP00000380663:R506Q;ENSP00000380662:R506Q;ENSP00000452083:R240Q	ENSP00000285850:R506Q	R	-	2	0	SLC7A7	22312678	0.000000	0.05858	0.059000	0.19551	0.294000	0.27393	-1.031000	0.03578	-1.499000	0.01821	-1.008000	0.02478	CGG	.		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			T	23242838	C	T	23242838	3	4	9	1	0	0	0	0	1	0	0	0	14748	652	23	1	22	1	SLC7A7	14	23242838	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		23242838	84106702	55	1297											
DICER1	23405	hgsc.bcm.edu;bcgsc.ca	37	14	95562824	95562824	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr14:95562824G>A	ENST00000526495.1	-	25	4724	c.4433C>T	c.(4432-4434)gCa>gTa	p.A1478V	DICER1_ENST00000527414.1_Missense_Mutation_p.A1478V|DICER1_ENST00000556045.1_Missense_Mutation_p.A376V|DICER1_ENST00000343455.3_Missense_Mutation_p.A1478V|DICER1_ENST00000541352.1_Missense_Mutation_p.A1478V|DICER1_ENST00000393063.1_Missense_Mutation_p.A1478V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1478					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)		CCATTCATATGCAGAATCAGT	0.353			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.A1478V		.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	.	.	.	0			c.C4433T						.						65	67	66					14																	95562824		2203	4300	6503	SO:0001583	missense	23405	exon24	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	TCATATGCAGAAT	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.4433C>T	14.37:g.95562824G>A	ENSP00000437256:p.Ala1478Val	76	0		64	4	NM_030621	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307056	0.23821	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.86865	0.35;0.35;0.35;0.35;-2.18;0.66	5.59	4.58	0.56647	Ribonuclease III (3);	0.367696	0.31156	N	0.008148	T	0.70868	0.3273	N	0.08118	0	0.09310	N	1	B;P;B	0.36354	0.175;0.549;0.055	B;B;B	0.37780	0.174;0.258;0.081	T	0.60934	-0.7164	10	0.11182	T	0.66	-21.9466	8.172	0.31260	0.0:0.1173:0.5468:0.3359	.	376;1478;1478	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	V	1478;1478;1478;1478;376;1478	ENSP00000343745:A1478V;ENSP00000437256:A1478V;ENSP00000376783:A1478V;ENSP00000435681:A1478V;ENSP00000451041:A376V;ENSP00000444719:A1478V	ENSP00000343745:A1478V	A	-	2	0	DICER1	94632577	0.211000	0.23529	0.233000	0.24025	0.961000	0.63080	1.824000	0.39072	2.793000	0.96121	0.561000	0.74099	GCA	.		0.353	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			A	95562824	G	A	95562824	3	1	9	1	0	0	0	0	1	0	0	0	4535	1319	46	3	1355	3	DICER1	14	95562824	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	72319986	95562824	11786716	56	1298											
JAG2	3714	hgsc.bcm.edu	37	14	105609199	105609199	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr14:105609199C>T	ENST00000331782.3	-	26	3953	c.3550G>A	c.(3550-3552)Ggc>Agc	p.G1184S	JAG2_ENST00000347004.2_Missense_Mutation_p.G1146S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1184					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)		TCACCGCGGCCCAGATCCTCG	0.711																																					p.G1184S		.											.	.	.	0			c.G3550A						.						27	25	26					14																	105609199		2196	4299	6495	SO:0001583	missense	3714	exon26			CGCGGCCCAGATC	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.3550G>A	14.37:g.105609199C>T	ENSP00000328169:p.Gly1184Ser	34	0		29	4	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	2.771	-0.255720	0.05829	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.85629	-2.01;-2.01	3.63	0.663	0.17885	.	1.381320	0.04636	N	0.404451	T	0.71367	0.3331	N	0.16478	0.41	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.15484	0.007;0.013	T	0.54906	-0.8223	10	0.10902	T	0.67	.	5.4126	0.16356	0.0:0.6012:0.0:0.3988	.	1146;1184	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	S	1184;1146	ENSP00000328169:G1184S;ENSP00000328566:G1146S	ENSP00000328169:G1184S	G	-	1	0	JAG2	104680244	0.023000	0.18921	0.012000	0.15200	0.038000	0.13279	0.872000	0.28037	0.024000	0.15214	0.491000	0.48974	GGC	.		0.711	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105609199	C	T	105609199	3	4	9	1	0	0	0	0	1	0	0	0	7962	623	22	3	170	3	JAG2	14	105609199	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	10046375	105609199	1740341	57	1299											
AQR	9716	hgsc.bcm.edu;bcgsc.ca	37	15	35155082	35155082	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr15:35155082G>T	ENST00000156471.5	-	33	4240	c.4015C>A	c.(4015-4017)Cca>Aca	p.P1339T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1339					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)		CTAGTAGTTGGGAAAGGTTCT	0.408																																					p.P1339T		.											AQR,NS,carcinoma,0,1	AQR	0	0			c.C4015A						.						71	70	70					15																	35155082		1881	4122	6003	SO:0001583	missense	9716	exon33			TAGTTGGGAAAGG	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.4015C>A	15.37:g.35155082G>T	ENSP00000156471:p.Pro1339Thr	43	0		59	4	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742546	0.49151	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94184	-3.37	5.82	5.82	0.92795	.	0.194618	0.53938	D	0.000048	D	0.93536	0.7937	M	0.77313	2.365	0.58432	D	0.999994	B	0.24368	0.102	B	0.19391	0.025	D	0.90449	0.4437	10	0.51188	T	0.08	-11.1745	20.099	0.97865	0.0:0.0:1.0:0.0	.	1339	O60306	AQR_HUMAN	T	1339	ENSP00000156471:P1339T	ENSP00000156471:P1339T	P	-	1	0	AQR	32942374	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.452000	0.80683	2.752000	0.94435	0.655000	0.94253	CCA	.		0.408	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35155082	G	T	35155082	3	4	9	1	0	0	0	0	1	0	0	0	835	1232	43	3	454	3	AQR	15	35155082	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		35155082	67376310	58	1300											
TMEM87A	25963	broad.mit.edu	37	15	42556290	42556290	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr15:42556290G>T	ENST00000389834.4	-	4	667	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000307216.6_Missense_Mutation_p.Q135K|TMEM87A_ENST00000448392.1_Missense_Mutation_p.Q74K	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	135						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-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;1.03e-06)		AAGATTACCTGTGTTTTAAAG	0.323																																					p.Q135K													.	TMEM87A	56	0			c.C403A						.						118	118	118					15																	42556290		2202	4297	6499	SO:0001583	missense	25963	exon4			TTACCTGTGTTTT	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.403C>A	15.37:g.42556290G>T	ENSP00000374484:p.Gln135Lys	40	0		46	3	NM_001110503	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791506	0.70452	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	5.12	5.12	0.69794	.	0.220988	0.39544	N	0.001336	T	0.64538	0.2607	L	0.32530	0.975	0.36455	D	0.866337	B;B;D	0.58268	0.057;0.068;0.982	B;B;D	0.70227	0.023;0.014;0.968	T	0.67277	-0.5711	9	0.37606	T	0.19	-8.432	13.9408	0.64054	0.0:0.0:1.0:0.0	.	135;74;135	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	K	135;74;111;135	.	ENSP00000305894:Q135K	Q	-	1	0	TMEM87A	40343582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.235000	0.58666	2.646000	0.89796	0.655000	0.94253	CAG	.		0.323	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		T	42556290	G	T	42556290	3	4	9	1	0	0	0	0	1	0	0	0	16257	1386	48	3	1378	3	TMEM87A	15	42556290	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	7401208	42556290	59975102	59	1301											
SEMA6D	80031	hgsc.bcm.edu;bcgsc.ca	37	15	48052508	48052508	+	Silent	SNP	G	G	A	rs140647776		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr15:48052508G>A	ENST00000316364.5	+	3	556	c.117G>A	c.(115-117)agG>agA	p.R39R	SEMA6D_ENST00000558816.1_Silent_p.R39R|SEMA6D_ENST00000354744.4_Silent_p.R39R|SEMA6D_ENST00000389433.2_Silent_p.R39R|SEMA6D_ENST00000389428.3_Silent_p.R39R|SEMA6D_ENST00000537942.1_Silent_p.R39R|SEMA6D_ENST00000389425.3_Silent_p.R39R|SEMA6D_ENST00000358066.4_Silent_p.R39R|SEMA6D_ENST00000355997.3_Silent_p.R39R|SEMA6D_ENST00000536845.2_Silent_p.R39R|SEMA6D_ENST00000558014.1_Silent_p.R39R|SEMA6D_ENST00000389432.2_Silent_p.R39R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	39	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)		CAGATTCAAGGCAATATCCGG	0.408																																					p.R39R		.											.	.	.	0			c.G117A						.	G	,,,,,,	3,4393	6.2+/-15.9	0,3,2195	98	87	91		117,117,117,117,117,117,117	4.8	1	15	dbSNP_134	91	0,8594		0,0,4297	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	,,,,,,	0,3,6492	AA,AG,GG		0.0,0.0682,0.0231	,,,,,,	39/1012,39/1012,39/477,39/999,39/1018,39/1074,39/598	48052508	3,12987	2198	4297	6495	SO:0001819	synonymous_variant	80031	exon3			TTCAAGGCAATAT	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.117G>A	15.37:g.48052508G>A		36	0		46	4	NM_153617	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																			0.000		0.408	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48052508	G	A	48052508	2	1	9	1	0	0	0	0	0	0	0	1	14087	1194	42	3		3	SEMA6D	15	48052508	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	5496218	48052508	54478884	60	1302											
SECISBP2L	9728	bcgsc.ca	37	15	49304061	49304061	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr15:49304061C>A	ENST00000559471.1	-	13	1995		c.e13-1		SECISBP2L_ENST00000261847.3_Splice_Site	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like								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						TTAAAATAACCTAAAAGTCAT	0.343																																					.													.	SECISBP2L	118	0			c.1732-1G>T						.						70	74	73					15																	49304061		2197	4295	6492	SO:0001630	splice_region_variant	9728	exon14			AATAACCTAAAAG	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.1732-1G>T	15.37:g.49304061C>A		53	0		69	4	NM_001193489	Q8N767	Splice_Site	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980440	0.74474	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1233	0.93372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SECISBP2L	47091353	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.978000	0.76147	2.760000	0.94817	0.557000	0.71058	.	.		0.343	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	Intron	A	49304061	C	A	49304061	5	1	9	1	0	0	0	0	0	0	1	0	14052	695	24	3	1598	3	SECISBP2L	15	49304061	Splice_Site	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	1251553	49304061	53227331	61	1303											
USP8	9101	hgsc.bcm.edu;ucsc.edu	37	15	50785054	50785054	+	Silent	SNP	C	C	T	rs199814360		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr15:50785054C>T	ENST00000396444.3	+	15	2729	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	USP8_ENST00000425032.3_Silent_p.N691N|USP8_ENST00000433963.1_Silent_p.N797N|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.N797N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	797	USP.				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)		GCCTATGTAACGCTCCACATT	0.363																																					p.N797N		.											.	.	.	0			c.C2391T						.						105	96	99					15																	50785054		2196	4293	6489	SO:0001819	synonymous_variant	9101	exon15			ATGTAACGCTCCA	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.2391C>T	15.37:g.50785054C>T		23	0		40	6	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																			.		0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		T	50785054	C	T	50785054	2	4	9	1	0	0	0	0	0	0	0	1	17138	535	19	1		1	USP8	15	50785054	Silent	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	1480993	50785054	51746338	62	1304											
PIF1	80119	bcgsc.ca	37	15	65114771	65114771	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr15:65114771G>T	ENST00000268043.4	-	3	691	c.597C>A	c.(595-597)agC>agA	p.S199R	PIF1_ENST00000559239.1_Missense_Mutation_p.S199R|PIF1_ENST00000333425.6_Missense_Mutation_p.S199R					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						TGGAGGGCAAGCTCAGCCTCT	0.612																																					p.S199R													.	PIF1	43	0			c.C597A						.						46	43	44					15																	65114771		2202	4299	6501	SO:0001583	missense	80119	exon3			GGGCAAGCTCAGC	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.597C>A	15.37:g.65114771G>T	ENSP00000268043:p.Ser199Arg	50	0		56	4	NM_025049		Missense_Mutation	SNP	ENST00000268043.4	37	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	7.635	0.679625	0.14907	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.54675	0.56;0.56	5.39	-1.3	0.09259	.	1.280410	0.04653	N	0.407414	T	0.25158	0.0611	N	0.05510	-0.035	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.08330	-1.0727	10	0.13108	T	0.6	-3.2319	0.6261	0.00786	0.2958:0.1211:0.3353:0.2478	.	199;199	Q9H611-2;Q9H611	.;PIF1_HUMAN	R	199	ENSP00000268043:S199R;ENSP00000328174:S199R	ENSP00000268043:S199R	S	-	3	2	PIF1	62901824	0.009000	0.17119	0.258000	0.24420	0.936000	0.57629	0.358000	0.20216	-0.201000	0.10284	-0.258000	0.10820	AGC	.		0.612	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		T	65114771	G	T	65114771	3	4	9	1	0	0	0	0	1	0	0	0	11922	962	34	3	1372	3	PIF1	15	65114771	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	14329717	65114771	37416621	63	1305											
ABCA3	21	hgsc.bcm.edu	37	16	2347794	2347794	+	Silent	SNP	G	G	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr16:2347794G>A	ENST00000301732.5	-	16	2725	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	ABCA3_ENST00000382381.3_Silent_p.I617I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	675	ABC transporter 1. {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)	GGGCGATGCCGATGGAGAGCT	0.647																																					p.I675I		.											ABCA3,colon,carcinoma,0,1	ABCA3	0	0			c.C2025T						.						82	73	76					16																	2347794		2198	4300	6498	SO:0001819	synonymous_variant	21	exon16			GATGCCGATGGAG	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.2025C>T	16.37:g.2347794G>A		21	0		61	3	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																			.		0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2347794	G	A	2347794	2	1	9	1	0	0	0	0	0	0	0	1	33	1048	37	1		1	ABCA3	16	2347794	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		2347794	88006959	64	1306											
ZNF263	10127	hgsc.bcm.edu	37	16	3339426	3339426	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr16:3339426C>A	ENST00000219069.5	+	6	1796	c.920C>A	c.(919-921)cCg>cAg	p.P307Q	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Missense_Mutation_p.R141S	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	307					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						GAAGGTGTTCCGTCTGTATGC	0.522																																					p.P307Q		.											ZNF263,NS,carcinoma,0,1	ZNF263	0	0			c.C920A						.						86	97	93					16																	3339426		2197	4300	6497	SO:0001583	missense	10127	exon6			GTGTTCCGTCTGT	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.920C>A	16.37:g.3339426C>A	ENSP00000219069:p.Pro307Gln	35	0		36	2	NM_005741	B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	1.274	-0.612359	0.03690	.	.	ENSG00000006194	ENST00000219069	T	0.04706	3.57	5.17	-3.13	0.05266	.	0.640213	0.13951	N	0.351521	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47315	-0.9127	10	0.13470	T	0.59	.	5.1367	0.14937	0.2551:0.5424:0.0792:0.1233	.	307	O14978	ZN263_HUMAN	Q	307	ENSP00000219069:P307Q	ENSP00000219069:P307Q	P	+	2	0	ZNF263	3279427	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.506000	0.06359	-0.331000	0.08501	-0.976000	0.02587	CCG	.		0.522	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			A	3339426	C	A	3339426	3	1	9	1	0	0	0	0	1	0	0	0	17851	652	23	2	942	2	ZNF263	16	3339426	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	991632	3339426	87015327	65	1307											
RBBP6	5930	hgsc.bcm.edu	37	16	24582226	24582226	+	Missense_Mutation	SNP	G	G	T	rs561499621		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr16:24582226G>T	ENST00000319715.4	+	18	4271	c.3839G>T	c.(3838-3840)cGg>cTg	p.R1280L	RBBP6_ENST00000381039.3_Missense_Mutation_p.R440L|RBBP6_ENST00000348022.2_Missense_Mutation_p.R1246L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1280					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)		AGTCCTGTGCGGAAATCTGAA	0.303																																					p.R1280L		.											.	.	.	0			c.G3839T						.						35	35	35					16																	24582226		2197	4300	6497	SO:0001583	missense	5930	exon18			CTGTGCGGAAATC		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.3839G>T	16.37:g.24582226G>T	ENSP00000317872:p.Arg1280Leu	77	0		92	4	NM_006910	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954029	0.53293	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.24538	1.85;2.18;2.13	5.6	4.64	0.57946	.	0.233058	0.33235	N	0.005126	T	0.24084	0.0583	L	0.32530	0.975	0.35609	D	0.808485	P;B;B	0.39480	0.675;0.447;0.319	B;B;B	0.42882	0.401;0.312;0.165	T	0.30475	-0.9977	10	0.48119	T	0.1	-8.9894	11.8653	0.52490	0.1409:0.0:0.8591:0.0	.	440;1246;1280	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	L	440;1280;1246	ENSP00000370427:R440L;ENSP00000317872:R1280L;ENSP00000316291:R1246L	ENSP00000317872:R1280L	R	+	2	0	RBBP6	24489727	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.627000	0.61276	1.500000	0.48636	0.563000	0.77884	CGG	.		0.303	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24582226	G	T	24582226	3	4	9	1	0	0	0	0	1	0	0	0	13148	1116	39	2	3963	2	RBBP6	16	24582226	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	21242800	24582226	65772527	66	1308											
NDEL1	81565	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	8350192	8350192	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr17:8350192G>A	ENST00000334527.7	+	4	558	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	NDEL1_ENST00000299734.7_Missense_Mutation_p.A121T|NDEL1_ENST00000380025.4_Missense_Mutation_p.A121T|NDEL1_ENST00000402554.3_Missense_Mutation_p.A121T|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	121	Interaction with KATNB1. {ECO:0000250}.|Required for interaction with PAFAH1B1.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						GCTGGAGCAGGCCAACGACGA	0.428																																					p.A121T		.											.	.	.	0			c.G361A						.						93	88	89					17																	8350192		2203	4300	6503	SO:0001583	missense	81565	exon4			GAGCAGGCCAACG	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.361G>A	17.37:g.8350192G>A	ENSP00000333982:p.Ala121Thr	65	0		55	5	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727027	0.69074	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.12	5.12	0.69794	.	0.105499	0.64402	D	0.000005	T	0.67468	0.2896	M	0.75777	2.31	0.80722	D	1	B;B	0.25390	0.125;0.06	B;B	0.20184	0.028;0.012	T	0.64334	-0.6432	9	0.25751	T	0.34	-2.3041	18.7659	0.91873	0.0:0.0:1.0:0.0	.	121;121	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	T	121;121;176;121	.	ENSP00000299734:A121T	A	+	1	0	NDEL1	8290917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.980000	0.56895	2.677000	0.91161	0.561000	0.74099	GCC	.		0.428	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		A	8350192	G	A	8350192	3	1	9	1	0	0	0	0	1	0	0	0	10283	1203	42	3	371	3	NDEL1	17	8350192	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		8350192	72845018	67	1309											
ZNF624	57547	ucsc.edu;bcgsc.ca	37	17	16527621	16527621	+	Silent	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr17:16527621G>T	ENST00000311331.7	-	6	670	c.579C>A	c.(577-579)ctC>ctA	p.L193L		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGTCTTCTTGAGTGGAATTA	0.388																																					p.L193L	NSCLC(186;1023 2134 13330 38202 39800)												.	ZNF624	91	0			c.C579A						.						91	92	92					17																	16527621		2203	4300	6503	SO:0001819	synonymous_variant	57547	exon6			CTTCTTGAGTGGA	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.579C>A	17.37:g.16527621G>T		47	0		42	4	NM_020787	Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	CCDS11180.1																																																																																			.		0.388	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		T	16527621	G	T	16527621	2	4	9	1	0	0	0	0	0	0	0	1	18096	1277	45	3		3	ZNF624	17	16527621	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	8177429	16527621	64667589	68	1310											
C17orf71	55181	hgsc.bcm.edu	37	17	57288786	57288786	+	Silent	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr17:57288786G>T	ENST00000543872.2	+	2	1638	c.1374G>T	c.(1372-1374)gtG>gtT	p.V458V	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.V458V|SMG8_ENST00000300917.5_Silent_p.V458V|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	458					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						TGTATGAGGTGGCTATTGATG	0.433																																					p.V458V		.											SMG8,middle_lobe,carcinoma,0,1	SMG8	0	0			c.G1374T						.						58	60	59					17																	57288786		2203	4300	6503	SO:0001819	synonymous_variant	55181	exon1			TGAGGTGGCTATT	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.1374G>T	17.37:g.57288786G>T		43	0		43	2	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	CCDS11615.1																																																																																			.		0.433	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		T	57288786	G	T	57288786	2	4	9	1	0	0	0	0	0	0	0	1	1884	1335	47	3		3	C17orf71	17	57288786	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	40761165	57288786	23906424	69	1311											
HEATR6	63897	hgsc.bcm.edu	37	17	58156223	58156223	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr17:58156223G>A	ENST00000184956.6	-	1	69	c.53C>T	c.(52-54)gCa>gTa	p.A18V	HEATR6_ENST00000585976.1_Missense_Mutation_p.A18V|HEATR6_ENST00000585712.1_5'UTR|CTD-2319I12.2_ENST00000589740.1_lincRNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	18							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)			TTCCCGCGGTGCCTCCCGCGG	0.662																																					p.A18V		.											.	.	.	0			c.C53T						.						23	20	21					17																	58156223		2202	4298	6500	SO:0001583	missense	63897	exon1			CGCGGTGCCTCCC	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.53C>T	17.37:g.58156223G>A	ENSP00000184956:p.Ala18Val	30	0		46	4	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695788	0.30052	.	.	ENSG00000068097	ENST00000184956	T	0.46451	0.87	5.08	3.02	0.34903	.	1.199780	0.05733	N	0.599832	T	0.30039	0.0752	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	10	0.25751	T	0.34	0.0649	7.8083	0.29215	0.206:0.0:0.794:0.0	.	18	Q6AI08	HEAT6_HUMAN	V	18	ENSP00000184956:A18V	ENSP00000184956:A18V	A	-	2	0	HEATR6	55511005	0.040000	0.19996	0.000000	0.03702	0.001000	0.01503	0.967000	0.29344	0.750000	0.32877	0.650000	0.86243	GCA	.		0.662	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		A	58156223	G	A	58156223	3	1	9	1	0	0	0	0	1	0	0	0	7060	1319	46	3	3572	3	HEATR6	17	58156223	Missense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	867437	58156223	23038987	70	1312											
LPIN2	9663	ucsc.edu	37	18	2923829	2923829	+	Silent	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr18:2923829C>T	ENST00000261596.4	-	16	2356	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	706	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTTGCCCAGCTGTGGGAGAA	0.488																																					p.Q706Q													.	LPIN2	75	0			c.G2118A						.						150	136	141					18																	2923829		2203	4300	6503	SO:0001819	synonymous_variant	9663	exon16			GCCCAGCTGTGGG	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2118G>A	18.37:g.2923829C>T		24	0		31	4	NM_014646	A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	CCDS11829.1																																																																																			.		0.488	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		T	2923829	C	T	2923829	2	4	9	1	0	0	0	0	0	0	0	1	8954	796	28	3		3	LPIN2	18	2923829	Silent	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		2923829	75153419	71	1313											
TBXA2R	6915	hgsc.bcm.edu	37	19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T	rs201738444		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr19:3600542C>T	ENST00000375190.4	-	2	484	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	31					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.A31T(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)	AAGGAGGCGGCGAACCAGGGC	0.697																																					p.A31T		.											TBXA2R,NS,carcinoma,0,1	TBXA2R	0	1	Substitution - Missense(1)	prostate(1)	c.G91A						.						22	29	26					19																	3600542		2104	4196	6300	SO:0001583	missense	6915	exon2			AGGCGGCGAACCA		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.91G>A	19.37:g.3600542C>T	ENSP00000364336:p.Ala31Thr	47	1		59	3	NM_201636	O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230395	0.58777	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.55	-0.769	0.11009	.	0.152670	0.43747	D	0.000533	T	0.16300	0.0392	L	0.27053	0.805	0.35243	D	0.77803	B;P	0.39352	0.046;0.669	B;B	0.27076	0.004;0.076	T	0.26710	-1.0095	10	0.24483	T	0.36	-11.956	8.4517	0.32875	0.4913:0.2645:0.2442:0.0	.	31;31	P21731;E2QRJ2	TA2R_HUMAN;.	T	31	ENSP00000393333:A31T;ENSP00000364336:A31T	ENSP00000364336:A31T	A	-	1	0	TBXA2R	3551542	0.924000	0.31332	0.808000	0.32385	0.738000	0.42128	0.343000	0.19944	-0.195000	0.10382	0.305000	0.20034	GCC	.		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			T	3600542	C	T	3600542	3	4	9	1	0	0	0	0	1	0	0	0	15710	768	27	1	1193	1	TBXA2R	19	3600542	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		3600542	55528441	72	1314											
ZNF791	163049	hgsc.bcm.edu	37	19	12739912	12739912	+	Silent	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr19:12739912C>A	ENST00000343325.4	+	4	1731	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P	ZNF791_ENST00000540038.1_Silent_p.P414P|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Silent_p.P491P|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	523					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.P523P(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAGAGAAACCCTATAAATGTA	0.388																																					p.P523P		.											ZNF791,NS,carcinoma,0,2	ZNF791	0	1	Substitution - coding silent(1)	lung(1)	c.C1569A						.						86	90	88					19																	12739912		2203	4300	6503	SO:0001819	synonymous_variant	163049	exon4			GAAACCCTATAAA	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.1569C>A	19.37:g.12739912C>A		27	0		38	2	NM_153358	B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	CCDS12273.1																																																																																			.		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		A	12739912	C	A	12739912	2	1	9	1	0	0	0	0	0	0	0	1	18211	668	24	3		3	ZNF791	19	12739912	Silent	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	9139370	12739912	46389071	73	1315											
CCDC61	729440	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	46511419	46511419	+	Silent	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr19:46511419C>T	ENST00000595358.1	+	5	460	c.411C>T	c.(409-411)ctC>ctT	p.L137L	CCDC61_ENST00000536603.1_Silent_p.L137L|CCDC61_ENST00000594087.1_Silent_p.L137L|CCDC61_ENST00000263284.2_Silent_p.L194L	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	137						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CGCTGCCCCTCCCGTACCAGG	0.602																																					p.L137L		.											.	.	.	0			c.C411T						.						19	22	21					19																	46511419		1943	4136	6079	SO:0001819	synonymous_variant	729440	exon5			GCCCCTCCCGTAC		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.411C>T	19.37:g.46511419C>T		52	0		64	5	NM_001267723	C8CAP4|Q9HDB6	Silent	SNP	ENST00000595358.1	37	CCDS46120.2																																																																																			.		0.602	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		T	46511419	C	T	46511419	2	4	9	1	0	0	0	0	0	0	0	1	2839	842	30	3		3	CCDC61	19	46511419	Silent	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	33771507	46511419	12617564	74	1316											
DPRX	503834	hgsc.bcm.edu	37	19	54140174	54140174	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr19:54140174C>A	ENST00000376650.1	+	3	559	c.508C>A	c.(508-510)Caa>Aaa	p.Q170K		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q170K(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTTGGAATCCCAAGTTTGCGC	0.443																																					p.Q170K		.											DPRX,NS,carcinoma,0,1	DPRX	0	1	Substitution - Missense(1)	lung(1)	c.C508A						.						115	113	114					19																	54140174		2203	4300	6503	SO:0001583	missense	503834	exon3			GAATCCCAAGTTT		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.508C>A	19.37:g.54140174C>A	ENSP00000365838:p.Gln170Lys	33	0		32	2	NM_001012728		Missense_Mutation	SNP	ENST00000376650.1	37	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	c	5.823	0.336059	0.11013	.	.	ENSG00000204595	ENST00000376650	D	0.94330	-3.4	1.45	0.392	0.16288	.	.	.	.	.	T	0.78679	0.4321	N	0.14661	0.345	0.09310	N	1	P	0.45531	0.86	B	0.28385	0.089	T	0.72327	-0.4327	9	0.19590	T	0.45	.	3.6811	0.08310	0.0:0.7502:0.0:0.2498	.	170	A6NFQ7	DPRX_HUMAN	K	170	ENSP00000365838:Q170K	ENSP00000365838:Q170K	Q	+	1	0	DPRX	58831986	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.281000	0.18810	0.178000	0.19917	0.561000	0.74099	CAA	.		0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		A	54140174	C	A	54140174	3	1	9	1	0	0	0	0	1	0	0	0	4752	595	21	3	518	3	DPRX	19	54140174	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09	7628755	54140174	4988809	75	1317											
MATN4	8785	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	43932932	43932932	+	Silent	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr20:43932932G>T	ENST00000372754.1	-	2	587	c.579C>A	c.(577-579)gtC>gtA	p.V193V	RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000353917.5_Silent_p.V193V|MATN4_ENST00000360607.6_Silent_p.V193V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Silent_p.V193V|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Silent_p.V193V|MATN4_ENST00000372756.1_Silent_p.V193V			O95460	MATN4_HUMAN	matrilin 4	193	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)				CTACGAGGAAGACGTGCTCGT	0.657																																					p.V193V		.											.	.	.	0			c.C579A						.						45	44	44					20																	43932932		2203	4299	6502	SO:0001819	synonymous_variant	8785	exon3			GAGGAAGACGTGC	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.579C>A	20.37:g.43932932G>T		19	0		23	4	NM_030592	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37																																																																																				.		0.657	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			T	43932932	G	T	43932932	2	4	9	1	0	0	0	0	0	0	0	1	9374	929	33	3		3	MATN4	20	43932932	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		43932932	19092588	76	1318											
RPS21	6227	hgsc.bcm.edu	37	20	60962906	60962906	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr20:60962906A>G	ENST00000343986.4	+	4	161	c.122A>G	c.(121-123)aAg>aGg	p.K41R	RPS21_ENST00000450116.2_Missense_Mutation_p.K41R|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	41					cellular protein metabolic process (GO:0044267)|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|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)|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)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TAGGTTGACAAGGTCACAGGC	0.522																																					p.K41R		.											RPS21,NS,carcinoma,0,1	RPS21	0	0			c.A122G						.						100	100	100					20																	60962906		2203	4300	6503	SO:0001583	missense	6227	exon4			TTGACAAGGTCAC	L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"S ribosomal proteins"	10409	protein-coding gene	gene with protein product	"8.2 kDa differentiation factor"	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.122A>G	20.37:g.60962906A>G	ENSP00000345957:p.Lys41Arg	26	0		14	2	NM_001024	P35265	Missense_Mutation	SNP	ENST00000343986.4	37	CCDS13497.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.07|14.07	2.425623|2.425623	0.43020|0.43020	.|.	.|.	ENSG00000171858|ENSG00000171858	ENST00000317311;ENST00000370592;ENST00000343986;ENST00000450116|ENST00000337102	.|.	.|.	.|.	5.11|5.11	2.84|2.84	0.33178|0.33178	.|.	.|0.241194	.|0.39985	.|N	.|0.001220	T|T	0.61476|0.61476	0.2350|0.2350	.|.	.|.	.|.	0.38854|0.38854	D|D	0.956332|0.956332	B;B|.	0.23806|.	0.091;0.001|.	B;B|.	0.25140|.	0.058;0.005|.	T|T	0.61158|0.61158	-0.7119|-0.7119	7|6	0.38643|0.59425	T|D	0.18|0.04	-6.3825|-6.3825	7.4746|7.4746	0.27368|0.27368	0.8129:0.0:0.1871:0.0|0.8129:0.0:0.1871:0.0	.|.	41;41|.	Q9BYK1;P63220|.	.;RS21_HUMAN|.	R|G	41|41	.|.	ENSP00000324438:K41R|ENSP00000337019:R41G	K|R	+|+	2|1	0|2	RPS21|RPS21	60396301|60396301	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.809000|0.809000	0.45718|0.45718	4.940000|4.940000	0.63533|0.63533	0.291000|0.291000	0.22468|0.22468	0.455000|0.455000	0.32223|0.32223	AAG|AGG	.		0.522	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080031.2	NM_001024		G	60962906	A	G	60962906	3	3	9	1	0	0	0	0	1	0	0	0	13678	72	3	4	132	4	RPS21	20	60962906	Missense_Mutation	SNP	A	TCGA-W5-AA2H-01A-31D-A417-09	17029974	60962906	2062614	77	1319											
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.K373N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	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)		CAACATATCTCTTCTGAAAAG	0.338																																					p.K391N													.	TPTE	513	0			c.G1173T						.						106	99	101					21																	10916473		2203	4300	6503	SO:0001583	missense	7179	exon20			ATATCTCTTCTGA	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.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn	174	0		223	6	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG	.		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10916473	C	A	10916473	3	1	9	1	0	0	0	0	1	0	0	0	16478	912	32	3	502	3	TPTE	21	10916473	Missense_Mutation	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		10916473	37213422	78	1320											
SON	6651	hgsc.bcm.edu	37	21	34948697	34948697	+	Silent	SNP	A	A	G	rs199930883|rs34373121		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr21:34948697A>G	ENST00000356577.4	+	12	7723	c.7248A>G	c.(7246-7248)agA>agG	p.R2416R	SON_ENST00000381692.2_Silent_p.R444R|SON_ENST00000470533.1_Intron|AP000304.1_ENST00000595468.1_5'Flank|DONSON_ENST00000303113.6_Intron|SON_ENST00000290239.6_3'UTR	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2416	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.			ALTR -> SPYQ (in Ref. 2; AAK07692). {ECO:0000305}.	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						CCCTTACCAGACCCAATTGTA	0.363																																					p.R2416R		.											.,4	.	343	0			c.A7248G						.						9	10	10					21																	34948697		1712	3586	5298	SO:0001819	synonymous_variant	6651	exon12			TACCAGACCCAAT	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.7248A>G	21.37:g.34948697A>G		40	1		74	4	NM_138927	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1																																																																																			.		0.363	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		G	34948697	A	G	34948697	2	3	9	1	0	0	0	0	0	0	0	1	14971	272	10	4		4	SON	21	34948697	Silent	SNP	A	TCGA-W5-AA2H-01A-31D-A417-09	24032224	34948697	13181198	79	1321											
BAIAP2L2	80115	hgsc.bcm.edu;bcgsc.ca	37	22	38504287	38504287	+	Silent	SNP	C	C	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr22:38504287C>T	ENST00000381669.3	-	3	333	c.189G>A	c.(187-189)ctG>ctA	p.L63L	BAIAP2L2_ENST00000332536.5_Silent_p.L63L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	63	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TGGGGCTCTGCAGGGCACGCT	0.627																																					p.L63L		.											.	.	.	0			c.G189A						.						31	38	36					22																	38504287		1965	4135	6100	SO:0001819	synonymous_variant	80115	exon3			GCTCTGCAGGGCA	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.189G>A	22.37:g.38504287C>T		35	0		45	4	NM_025045	B0QYE2|Q96BG7	Silent	SNP	ENST00000381669.3	37	CCDS43018.1																																																																																			.		0.627	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		T	38504287	C	T	38504287	2	4	9	1	0	0	0	0	0	0	0	1	1304	697	25	3		3	BAIAP2L2	22	38504287	Silent	SNP	C	TCGA-W5-AA2H-01A-31D-A417-09		38504287	12800279	80	1322											
MAPK12	6300	ucsc.edu	37	22	50694524	50694524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chr22:50694524G>T	ENST00000215659.8	-	7	924	c.609C>A	c.(607-609)taC>taA	p.Y203*	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Nonsense_Mutation_p.Y113*	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		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)		CCGTCTGCGTGTAGCGCATCC	0.617																																					p.Y203X													.	MAPK12	43	0			c.C609A						.						51	52	52					22																	50694524		2202	4299	6501	SO:0001587	stop_gained	6300	exon7			CTGCGTGTAGCGC	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.609C>A	22.37:g.50694524G>T	ENSP00000215659:p.Tyr203*	18	0		21	4	NM_002969	Q14260|Q6IC53|Q99588|Q99672	Nonsense_Mutation	SNP	ENST00000215659.8	37	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	G	39	7.822464	0.98510	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	.	.	.	4.24	3.2	0.36748	.	0.000000	0.31167	U	0.008121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5955	9.491	0.38960	0.2319:0.0:0.7681:0.0	.	.	.	.	X	193;113;203	.	ENSP00000215659:Y203X	Y	-	3	2	MAPK12	49036651	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.188000	0.32102	0.985000	0.38656	0.561000	0.74099	TAC	.		0.617	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		T	50694524	G	T	50694524	4	4	9	1	0	0	0	0	0	1	0	0	9312	1372	48	3	518	3	MAPK12	22	50694524	Nonsense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	12190237	50694524	610042	81	1323											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)												.	NUDT10	28	8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A						.						52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A		71	1		96	8	NM_153183	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																			.		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51076024	G	A	51076024	2	1	9	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09		51076024	104194536	82	1324											
MED12	9968	broad.mit.edu	37	X	70349589	70349589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chrX:70349589G>T	ENST00000374080.3	+	27	3783	c.3751G>T	c.(3751-3753)Gag>Tag	p.E1251*	MED12_ENST00000333646.6_Nonsense_Mutation_p.E1251*|MED12_ENST00000374102.1_Nonsense_Mutation_p.E1251*			Q93074	MED12_HUMAN	mediator complex subunit 12	1251					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)					AGAACTTCCAGAGGAGGAGGG	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E1251X				Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12	984	0			c.G3751T						.						35	42	40					X																	70349589		2137	4228	6365	SO:0001587	stop_gained	9968	exon27			CTTCCAGAGGAGG	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.3751G>T	X.37:g.70349589G>T	ENSP00000363193:p.Glu1251*	28	0	1121	35	3	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	44	10.850751	0.99477	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	.	.	.	5.38	5.38	0.77491	.	0.109105	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-20.9619	18.515	0.90933	0.0:0.0:1.0:0.0	.	.	.	.	X	1251;1251;1251;1251;1219	.	ENSP00000333125:E1251X	E	+	1	0	MED12	70266314	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.113000	0.89568	2.401000	0.81631	0.468000	0.43344	GAG	.		0.582	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		T	70349589	G	T	70349589	4	4	9	1	0	0	0	0	0	1	0	0	9466	943	33	3	3857	3	MED12	23	70349589	Nonsense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	19273565	70349589	84920971	83	1325											
ABCB7	22	hgsc.bcm.edu	37	X	74375943	74375943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2H-01A-31D-A417-09	TCGA-W5-AA2H-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d06dd55a-d1a0-4571-b5c2-9d0b89ec7839	a5370b86-69de-4f97-87c3-777c38cee0e9	g.chrX:74375943G>T	ENST00000373394.3	-	1	172	c.165C>A	c.(163-165)taC>taA	p.Y55*	ABCB7_ENST00000339447.4_Nonsense_Mutation_p.Y55*|ABCB7_ENST00000253577.3_Nonsense_Mutation_p.Y55*			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	55					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						ATCTCACCTGGTAGGCTCGAG	0.597											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y55X		.											.	.	.	0			c.C165A						.						44	30	34					X																	74375943		2203	4300	6503	SO:0001587	stop_gained	22	exon1			CACCTGGTAGGCT	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.165C>A	X.37:g.74375943G>T	ENSP00000362492:p.Tyr55*	100	0	1152	97	3	NM_001271697	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Nonsense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	G	15.84	2.951734	0.53186	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	.	.	.	4.5	0.625	0.17665	.	5.201040	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	21.0376	3.6507	0.08202	0.3188:0.1896:0.4917:0.0	.	.	.	.	X	55;55;55;55;55;55;67	.	ENSP00000253577:Y55X	Y	-	3	2	ABCB7	74292668	0.680000	0.27605	0.180000	0.23079	0.030000	0.12068	0.693000	0.25497	0.098000	0.17522	0.513000	0.50165	TAC	.		0.597	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		T	74375943	G	T	74375943	4	4	9	1	0	0	0	0	0	1	0	0	46	1256	44	3	2160	3	ABCB7	23	74375943	Nonsense_Mutation	SNP	G	TCGA-W5-AA2H-01A-31D-A417-09	4026354	74375943	80894617	84	1326											
EPHA2	1969	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	16451813	16451813	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:16451813T>A	ENST00000358432.5	-	17	2982	c.2828A>T	c.(2827-2829)gAc>gTc	p.D943V		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	943	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)	CCTCTTGATGTCGCTGTGGGC	0.687																																					p.D943V		.											.	.	.	0			c.A2828T						.						34	28	30					1																	16451813		2203	4300	6503	SO:0001583	missense	1969	exon17			TTGATGTCGCTGT	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.2828A>T	1.37:g.16451813T>A	ENSP00000351209:p.Asp943Val	37	0		30	18	NM_004431	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382022	0.82792	.	.	ENSG00000142627	ENST00000358432	T	0.59638	0.25	4.88	4.88	0.63580	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.53938	D	0.000041	T	0.80798	0.4692	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85688	0.1305	10	0.87932	D	0	.	13.6594	0.62357	0.0:0.0:0.0:1.0	.	943	P29317	EPHA2_HUMAN	V	943	ENSP00000351209:D943V	ENSP00000351209:D943V	D	-	2	0	EPHA2	16324400	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	7.946000	0.87746	1.825000	0.53177	0.459000	0.35465	GAC	.		0.687	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		A	16451813	T	A	16451813	3	1	10	1	0	0	0	0	1	0	0	0	5183	1667	58	5	106	5	EPHA2	1	16451813	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09		16451813	232798808	1	1327											
ZNF691	51058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	43317239	43317239	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:43317239A>T	ENST00000372506.1	+	4	950	c.610A>T	c.(610-612)Agc>Tgc	p.S204C	ZNF691_ENST00000372504.1_Missense_Mutation_p.S226C|ZNF691_ENST00000372502.1_Missense_Mutation_p.S226C|ZNF691_ENST00000372507.1_Missense_Mutation_p.S204C|ZNF691_ENST00000397044.3_Missense_Mutation_p.S235C|ZNF691_ENST00000372508.3_Missense_Mutation_p.S204C	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	235						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)				GTGTGGGAAGAGCTTCAGCAA	0.577																																					p.S235C		.											.	.	.	0			c.A703T						.						84	72	76					1																	43317239		2203	4300	6503	SO:0001583	missense	51058	exon4			GGGAAGAGCTTCA		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.610A>T	1.37:g.43317239A>T	ENSP00000361584:p.Ser204Cys	12	0		14	4	NM_001242739	A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	CCDS476.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178925	0.57692	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000372503;ENST00000372502	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.64472	0.2601	L	0.42529	1.33	0.39527	D	0.968604	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.68484	-0.5396	10	0.72032	D	0.01	-27.3103	13.8549	0.63519	1.0:0.0:0.0:0.0	.	235;235	B4DJR7;Q5VV52	.;ZN691_HUMAN	C	204;204;204;235;226;235;226	ENSP00000361586:S204C;ENSP00000361585:S204C;ENSP00000361584:S204C;ENSP00000380237:S235C;ENSP00000361582:S226C;ENSP00000361580:S226C	ENSP00000361580:S226C	S	+	1	0	ZNF691	43089826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.232000	0.32636	2.313000	0.78055	0.455000	0.32223	AGC	.		0.577	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		T	43317239	A	T	43317239	3	4	10	1	0	0	0	0	1	0	0	0	18144	304	11	5	612	5	ZNF691	1	43317239	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	26865426	43317239	205933382	2	1328											
ROR1	4919	broad.mit.edu	37	1	64603123	64603123	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:64603123G>A	ENST00000371079.1	+	5	929	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.R185H|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	185	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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						ATTGGCAACCGCACCGTCTAT	0.398																																					p.R185H													.	ROR1	113	0			c.G554A						.						149	144	146					1																	64603123		2203	4300	6503	SO:0001583	missense	4919	exon5			GCAACCGCACCGT	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.554G>A	1.37:g.64603123G>A	ENSP00000360120:p.Arg185His	61	0		51	3	NM_001083592	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917359	0.73098	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.75938	-0.98;-0.98	6.07	6.07	0.98685	Frizzled domain (2);	0.000000	0.43260	D	0.000584	T	0.61961	0.2389	M	0.63843	1.955	0.80722	D	1	B;B	0.25312	0.123;0.056	B;B	0.21708	0.036;0.018	T	0.61903	-0.6967	10	0.46703	T	0.11	.	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	185;185	Q01973;Q66K77	ROR1_HUMAN;.	H	185;185;188	ENSP00000360121:R185H;ENSP00000360120:R185H	ENSP00000360120:R185H	R	+	2	0	ROR1	64375711	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.029000	0.88807	2.885000	0.99019	0.655000	0.94253	CGC	.		0.398	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		A	64603123	G	A	64603123	3	1	10	1	0	0	0	0	1	0	0	0	13571	1087	38	1	572	1	ROR1	1	64603123	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	21285884	64603123	184647498	3	1329											
CNN3	1266	bcgsc.ca	37	1	95364930	95364930	+	Silent	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:95364930G>A	ENST00000370206.4	-	6	1028	c.645C>T	c.(643-645)agC>agT	p.S215S	CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000545882.1_Silent_p.S174S|CNN3_ENST00000394202.4_Silent_p.S169S|CNN3_ENST00000538964.1_Silent_p.S215S	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	215					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TGCTTACCTGGCTGGCTCCTT	0.363																																					p.S215S													.	CNN3	23	0			c.C645T						.						126	118	120					1																	95364930		2203	4300	6503	SO:0001819	synonymous_variant	1266	exon6			TACCTGGCTGGCT	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.645C>T	1.37:g.95364930G>A		56	0		64	4	NM_001839	B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	ENST00000370206.4	37	CCDS30775.1																																																																																			.		0.363	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		A	95364930	G	A	95364930	2	1	10	1	0	0	0	0	0	0	0	1	3618	1194	42	3		3	CNN3	1	95364930	Silent	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	30761807	95364930	153885691	4	1330											
ADCY10	55811	hgsc.bcm.edu	37	1	167780114	167780114	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:167780114G>T	ENST00000367851.4	-	32	4703	c.4519C>A	c.(4519-4521)Cct>Act	p.P1507T	ADCY10_ENST00000367848.1_Missense_Mutation_p.P1415T|ADCY10_ENST00000545172.1_Missense_Mutation_p.P1354T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1507					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)	p.P1507T(1)		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						CAAAAGACAGGGCCAGTGGTA	0.443																																					p.P1507T		.											ADCY10,NS,carcinoma,0,1	ADCY10	0	1	Substitution - Missense(1)	lung(1)	c.C4519A						.						69	69	69					1																	167780114		2203	4300	6503	SO:0001583	missense	55811	exon32			AGACAGGGCCAGT	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.4519C>A	1.37:g.167780114G>T	ENSP00000356825:p.Pro1507Thr	68	0		52	3	NM_018417	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967818	0.53507	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.37058	1.22;1.24;1.23	5.25	3.32	0.38043	.	0.126999	0.36519	N	0.002558	T	0.37919	0.1021	M	0.65975	2.015	0.33157	D	0.546421	D;D	0.63046	0.992;0.986	P;P	0.57101	0.813;0.655	T	0.45440	-0.9261	9	0.87932	D	0	-3.9266	11.9646	0.53027	0.0:0.3369:0.6631:0.0	.	1415;1507	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	T	1354;1507;1415	ENSP00000441992:P1354T;ENSP00000356825:P1507T;ENSP00000356822:P1415T	ENSP00000356822:P1415T	P	-	1	0	ADCY10	166046738	0.997000	0.39634	0.803000	0.32268	0.860000	0.49131	1.068000	0.30629	0.560000	0.29169	0.561000	0.74099	CCT	.		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		T	167780114	G	T	167780114	3	4	10	1	0	0	0	0	1	0	0	0	293	1232	43	3	321	3	ADCY10	1	167780114	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	72415184	167780114	81470507	5	1331											
RASAL2	9462	bcgsc.ca	37	1	178408564	178408564	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:178408564G>A	ENST00000462775.1	+	4	363	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	RASAL2_ENST00000448150.3_Missense_Mutation_p.G210R|RASAL2_ENST00000367649.3_Missense_Mutation_p.G228R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	80	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TAGGTCTCGTGGGCTGCCTAA	0.423																																					p.G228R													.	RASAL2	334	0			c.G682A						.						111	97	102					1																	178408564		2203	4300	6503	SO:0001583	missense	9462	exon6			TCTCGTGGGCTGC	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.238G>A	1.37:g.178408564G>A	ENSP00000420558:p.Gly80Arg	60	0		27	3	NM_170692	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545854	0.65198	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.19532	2.14;2.14;2.15	6.16	6.16	0.99307	Pleckstrin homology domain (1);	0.241638	0.40064	N	0.001197	T	0.37839	0.1018	L	0.44542	1.39	0.58432	D	0.999997	D;P	0.64830	0.994;0.904	P;P	0.57679	0.825;0.648	T	0.01081	-1.1458	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	80;228	Q9UJF2;F8W755	NGAP_HUMAN;.	R	210;228;80	ENSP00000407768:G210R;ENSP00000356621:G228R;ENSP00000420558:G80R	ENSP00000356621:G228R	G	+	1	0	RASAL2	176675187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.067000	0.64357	2.937000	0.99478	0.650000	0.86243	GGG	.		0.423	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		A	178408564	G	A	178408564	3	1	10	1	0	0	0	0	1	0	0	0	13109	1348	47	3	721	3	RASAL2	1	178408564	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	10628450	178408564	70842057	6	1332											
CEP350	9857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	179983051	179983051	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:179983051C>T	ENST00000367607.3	+	10	1881	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	488					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						CAAAGAAACTCAGAACGTTCG	0.383																																					p.S488L		.											.	.	.	0			c.C1463T						.						65	69	68					1																	179983051		2203	4300	6503	SO:0001583	missense	9857	exon10			GAAACTCAGAACG	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.1463C>T	1.37:g.179983051C>T	ENSP00000356579:p.Ser488Leu	98	0		87	29	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192203	0.58017	.	.	ENSG00000135837	ENST00000367607	D	0.90133	-2.62	5.78	5.78	0.91487	.	0.385118	0.18950	N	0.126717	D	0.89979	0.6872	M	0.69823	2.125	0.53005	D	0.999965	B;B	0.25563	0.104;0.129	B;B	0.21708	0.036;0.033	D	0.86096	0.1553	9	.	.	.	.	17.7934	0.88562	0.0:1.0:0.0:0.0	.	488;488	E7EU22;Q5VT06	.;CE350_HUMAN	L	488	ENSP00000356579:S488L	.	S	+	2	0	CEP350	178249674	1.000000	0.71417	0.988000	0.46212	0.597000	0.36814	2.562000	0.45914	2.729000	0.93468	0.650000	0.86243	TCA	.		0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	179983051	C	T	179983051	3	4	10	1	0	0	0	0	1	0	0	0	3261	838	29	3	1497	3	CEP350	1	179983051	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	1574487	179983051	69267570	7	1333											
KIAA1614	57710	hgsc.bcm.edu	37	1	180886014	180886014	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:180886014C>A	ENST00000367588.4	+	2	830	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	259								p.L259M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TAGCACATCCCTGACCTCCGA	0.582																																					p.L259M		.											KIAA1614,NS,carcinoma,0,1	KIAA1614	0	1	Substitution - Missense(1)	lung(1)	c.C775A						.						144	158	153					1																	180886014		2071	4206	6277	SO:0001583	missense	57710	exon2			ACATCCCTGACCT	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.775C>A	1.37:g.180886014C>A	ENSP00000356560:p.Leu259Met	27	0		40	2	NM_020950	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608961	0.28623	.	.	ENSG00000135835	ENST00000367588	T	0.05925	3.37	4.57	2.71	0.32032	.	0.607548	0.12570	N	0.457382	T	0.14614	0.0353	L	0.44542	1.39	0.23391	N	0.99778	D	0.89917	1.0	D	0.72075	0.976	T	0.14671	-1.0464	9	0.56958	D	0.05	-1.8665	6.2175	0.20663	0.0:0.6952:0.0:0.3048	.	259	Q5VZ46	K1614_HUMAN	M	259	ENSP00000356560:L259M	ENSP00000356560:L259M	L	+	1	2	KIAA1614	179152637	0.004000	0.15560	0.003000	0.11579	0.410000	0.31052	0.051000	0.14141	0.557000	0.29117	0.563000	0.77884	CTG	.		0.582	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		A	180886014	C	A	180886014	3	1	10	1	0	0	0	0	1	0	0	0	8275	680	24	3	781	3	KIAA1614	1	180886014	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	902963	180886014	68364607	8	1334											
RGS8	85397	hgsc.bcm.edu;bcgsc.ca	37	1	182640815	182640815	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:182640815C>A	ENST00000483095.2	-	0	131				RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_De_novo_Start_OutOfFrame|RGS8_ENST00000367556.1_De_novo_Start_OutOfFrame|RGS8_ENST00000258302.4_Missense_Mutation_p.Q19H			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						TCCTCATGGCCTGAGGGTCTT	0.463																																					p.Q19H	Ovarian(189;1262 3804 41973)	.											.	.	.	0			c.G57T						.						157	158	158					1																	182640815		2203	4300	6503			85397	exon2			CATGGCCTGAGGG	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.-127G>T	1.37:g.182640815C>A		77	0		59	4	NM_033345	B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508239	0.44660	.	.	ENSG00000135824	ENST00000258302	T	0.46063	0.88	5.28	4.37	0.52481	.	2.341800	0.03305	U	0.189600	T	0.67258	0.2874	.	.	.	0.80722	D	1	D	0.54397	0.966	D	0.72338	0.977	T	0.34054	-0.9844	9	0.66056	D	0.02	.	10.8879	0.46978	0.0:0.9115:0.0:0.0885	.	19	P57771-2	.	H	19	ENSP00000258302:Q19H	ENSP00000258302:Q19H	Q	-	3	2	RGS8	180907438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.754000	0.38369	1.222000	0.43521	0.563000	0.77884	CAG	.		0.463	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		A	182640815	C	A	182640815	1	1	10	1	0	1	0	0	0	0	0	0	13357	680	24	3		3	RGS8	1	182640815	De_novo_Start_OutOfFrame	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	1754801	182640815	66609806	9	1335											
PRG4	10216	hgsc.bcm.edu	37	1	186276306	186276306	+	Silent	SNP	T	T	C	rs78867190	byFrequency	TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:186276306T>C	ENST00000445192.2	+	7	1500	c.1455T>C	c.(1453-1455)acT>acC	p.T485T	PRG4_ENST00000367485.4_Silent_p.T392T|PRG4_ENST00000367483.4_Silent_p.T444T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T442T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	485	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.T485T(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						CTGCACCCACTGCCCCCAAGA	0.652													-|||	47	0.00938498	0.0348	0	5008	,	,		8279	0		0	False		,,,				2504	0.001				p.T485T		.											PRG4,NS,carcinoma,0,1	PRG4	0	1	Substitution - coding silent(1)	endometrium(1)	c.T1455C						.						98	105	103					1																	186276306		2203	4298	6501	SO:0001819	synonymous_variant	10216	exon7			ACCCACTGCCCCC	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.1455T>C	1.37:g.186276306T>C		77	1		86	4	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																			.		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		C	186276306	T	C	186276306	2	2	10	1	0	0	0	0	0	0	0	1	12523	1567	55	4		4	PRG4	1	186276306	Silent	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	3635491	186276306	62974315	10	1336											
CHI3L1	1116	broad.mit.edu;bcgsc.ca	37	1	203148988	203148988	+	Silent	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:203148988G>A	ENST00000255409.3	-	9	1037	c.912C>T	c.(910-912)cgC>cgT	p.R304R		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	304					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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTGTGGCTCCGCGGAGGAAGT	0.572																																					p.R304R													CHI3L1,colon,carcinoma,-2,1	CHI3L1	51	0			c.C912T						.						120	105	110					1																	203148988		2203	4300	6503	SO:0001819	synonymous_variant	1116	exon9			GGCTCCGCGGAGG	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.912C>T	1.37:g.203148988G>A		24	0		19	8	NM_001276	B2R7B0|P30923|Q8IVA4|Q96HI7	Silent	SNP	ENST00000255409.3	37	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	G	7.039	0.562105	0.13498	.	.	ENSG00000133048	ENST00000404436	T	0.05513	3.43	4.73	-9.47	0.00594	.	1.969070	0.02532	N	0.093697	T	0.06416	0.0165	.	.	.	0.39691	D	0.971044	.	.	.	.	.	.	T	0.38243	-0.9670	7	0.54805	T	0.06	0.1062	2.2363	0.04009	0.4308:0.0918:0.0967:0.3808	.	.	.	.	W	73	ENSP00000385350:R73W	ENSP00000385350:R73W	R	-	1	2	CHI3L1	201415611	0.000000	0.05858	0.001000	0.08648	0.829000	0.46940	-4.098000	0.00295	-2.639000	0.00430	0.313000	0.20887	CGG	.		0.572	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		A	203148988	G	A	203148988	2	1	10	1	0	0	0	0	0	0	0	1	3347	1074	38	1		1	CHI3L1	1	203148988	Silent	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	16872682	203148988	46101633	11	1337											
PIGR	5284	hgsc.bcm.edu	37	1	207107996	207107996	+	Nonsense_Mutation	SNP	C	C	A	rs538734889		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:207107996C>A	ENST00000356495.4	-	6	1657	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	492	Ig-like V-type 5.				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.E492*(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						CAGTATTTCTCGTACGAGGAG	0.562																																					p.E492X		.											PIGR,NS,carcinoma,0,2	PIGR	0	1	Substitution - Nonsense(1)	lung(1)	c.G1474T						.						77	76	76					1																	207107996		2203	4300	6503	SO:0001587	stop_gained	5284	exon6			ATTTCTCGTACGA		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.1474G>T	1.37:g.207107996C>A	ENSP00000348888:p.Glu492*	16	0		35	2	NM_002644	Q68D81|Q8IZY7	Nonsense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046674	0.97231	.	.	ENSG00000162896	ENST00000356495	.	.	.	5.77	3.92	0.45320	.	0.333042	0.29486	N	0.012010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.0706	7.2223	0.25994	0.0:0.7128:0.1395:0.1477	.	.	.	.	X	492	.	ENSP00000348888:E492X	E	-	1	0	PIGR	205174619	0.010000	0.17322	0.453000	0.27007	0.434000	0.31775	-0.034000	0.12225	0.814000	0.34374	0.561000	0.74099	GAG	.		0.562	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		A	207107996	C	A	207107996	4	1	10	1	0	0	0	0	0	1	0	0	11936	893	31	2	844	2	PIGR	1	207107996	Nonsense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	3959008	207107996	42142625	12	1338											
RPS6KC1	26750	hgsc.bcm.edu	37	1	213415426	213415426	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:213415426G>T	ENST00000366960.3	+	11	2757	c.2607G>T	c.(2605-2607)aaG>aaT	p.K869N	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.K572N|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.K857N|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.K657N	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	869	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTGAGACTAAGGGTGAAAGTG	0.383																																					p.K869N		.											RPS6KC1,NS,carcinoma,0,1	RPS6KC1	0	0			c.G2607T						.						114	118	117					1																	213415426		2203	4300	6503	SO:0001583	missense	26750	exon11			GACTAAGGGTGAA	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2607G>T	1.37:g.213415426G>T	ENSP00000355927:p.Lys869Asn	41	0		48	2	NM_012424	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	8.846	0.943344	0.18281	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.48522	1.4;1.42;1.42;0.81	5.91	5.0	0.66597	Protein kinase, catalytic domain (1);	0.484215	0.24341	N	0.039379	T	0.31918	0.0812	N	0.14661	0.345	0.09310	N	1	P;B;B	0.35684	0.515;0.372;0.372	B;B;B	0.38225	0.268;0.213;0.213	T	0.20940	-1.0260	10	0.49607	T	0.09	-32.4603	9.1112	0.36730	0.0729:0.0:0.7816:0.1454	.	657;869;857	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	N	657;869;857;572	ENSP00000442306:K657N;ENSP00000355927:K869N;ENSP00000355926:K857N;ENSP00000439282:K572N	ENSP00000355926:K857N	K	+	3	2	RPS6KC1	211482049	0.405000	0.25336	0.008000	0.14137	0.753000	0.42808	2.109000	0.41863	1.505000	0.48720	0.655000	0.94253	AAG	.		0.383	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		T	213415426	G	T	213415426	3	4	10	1	0	0	0	0	1	0	0	0	13703	991	35	3	2649	3	RPS6KC1	1	213415426	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	6307430	213415426	35835195	13	1339											
EPRS	2058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	220151958	220151958	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr1:220151958T>A	ENST00000366923.3	-	28	4282	c.4013A>T	c.(4012-4014)aAc>aTc	p.N1338I		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1338	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)	AACGCGGATGTTAACACTGAG	0.398																																					p.N1338I		.											.	.	.	0			c.A4013T						.						135	125	129					1																	220151958		2203	4300	6503	SO:0001583	missense	2058	exon28			CGGATGTTAACAC	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.4013A>T	1.37:g.220151958T>A	ENSP00000355890:p.Asn1338Ile	58	0		43	15	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552868	0.45487	.	.	ENSG00000136628	ENST00000366923	D	0.83075	-1.68	5.92	3.53	0.40419	Anticodon-binding (3);	0.372776	0.34025	N	0.004322	T	0.80303	0.4598	L	0.52126	1.63	0.09310	N	1	B	0.27013	0.166	B	0.37650	0.255	T	0.72653	-0.4228	10	0.87932	D	0	-4.6696	7.77	0.29001	0.0:0.0755:0.1384:0.7861	.	1338	P07814	SYEP_HUMAN	I	1338	ENSP00000355890:N1338I	ENSP00000355890:N1338I	N	-	2	0	EPRS	218218581	0.001000	0.12720	0.002000	0.10522	0.760000	0.43138	0.818000	0.27295	0.452000	0.26830	0.533000	0.62120	AAC	.		0.398	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		A	220151958	T	A	220151958	3	1	10	1	0	0	0	0	1	0	0	0	5207	1725	60	5	545	5	EPRS	1	220151958	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	6736532	220151958	29098663	14	1340											
C2orf16	84226	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	27799950	27799950	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:27799950G>T	ENST00000408964.2	+	1	562	c.511G>T	c.(511-513)Ggc>Tgc	p.G171C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	171						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)					GGCATATAAAGGCATAGATAC	0.423																																					p.G171C		.											.	.	.	0			c.G511T						.						77	72	73					2																	27799950		1875	4104	5979	SO:0001583	missense	84226	exon1			TATAAAGGCATAG	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.511G>T	2.37:g.27799950G>T	ENSP00000386190:p.Gly171Cys	59	0		42	4	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376893	0.42105	.	.	ENSG00000221843	ENST00000408964	T	0.13196	2.61	3.91	-0.821	0.10822	.	.	.	.	.	T	0.11367	0.0277	L	0.27053	0.805	0.09310	N	1	D	0.61697	0.99	P	0.50192	0.634	T	0.19031	-1.0318	9	0.51188	T	0.08	.	3.5599	0.07878	0.4412:0.1993:0.3595:0.0	.	171	Q68DN1	CB016_HUMAN	C	171	ENSP00000386190:G171C	ENSP00000386190:G171C	G	+	1	0	C2orf16	27653454	0.010000	0.17322	0.002000	0.10522	0.044000	0.14063	0.721000	0.25911	-0.052000	0.13311	0.563000	0.77884	GGC	.		0.423	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		T	27799950	G	T	27799950	3	4	10	1	0	0	0	0	1	0	0	0	2164	1000	35	3	513	3	C2orf16	2	27799950	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09		27799950	215399423	15	1341											
SNRNP200	23020	broad.mit.edu	37	2	96961292	96961292	+	Silent	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:96961292C>T	ENST00000323853.5	-	14	1853	c.1776G>A	c.(1774-1776)aaG>aaA	p.K592K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	592	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGATGTCCCACTTCTCGGGGG	0.552																																					p.K592K													.	SNRNP200	195	0			c.G1776A						.						112	93	99					2																	96961292		2203	4300	6503	SO:0001819	synonymous_variant	23020	exon14			GTCCCACTTCTCG	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1776G>A	2.37:g.96961292C>T		15	0		4	2	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																			.		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		T	96961292	C	T	96961292	2	4	10	1	0	0	0	0	0	0	0	1	14897	564	20	3		3	SNRNP200	2	96961292	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	69161342	96961292	146238081	16	1342											
DPP4	1803	hgsc.bcm.edu	37	2	162875264	162875264	+	Silent	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:162875264C>A	ENST00000360534.3	-	16	1955	c.1395G>T	c.(1393-1395)gcG>gcT	p.A465A	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A465A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GATAATACTTCGCCTCTTTAC	0.473																																					p.A465A		.											DPP4,NS,carcinoma,-1,2	DPP4	-1	2	Substitution - coding silent(2)	large_intestine(2)	c.G1395T						.						128	116	120					2																	162875264		2203	4300	6503	SO:0001819	synonymous_variant	1803	exon16			ATACTTCGCCTCT	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1395G>T	2.37:g.162875264C>A		34	0		30	2	NM_001935	Q53TN1	Silent	SNP	ENST00000360534.3	37	CCDS2216.1																																																																																			.		0.473	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			A	162875264	C	A	162875264	2	1	10	1	0	0	0	0	0	0	0	1	4743	871	31	2		2	DPP4	2	162875264	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	65913972	162875264	80324109	17	1343											
CCDC141	285025	hgsc.bcm.edu	37	2	179733971	179733971	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:179733971G>T	ENST00000420890.2	-	15	2384	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	CCDC141_ENST00000295723.5_Missense_Mutation_p.A181D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	756								p.A181D(1)|p.A756D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTTACAGGGGCTCCTCTGCC	0.363																																					p.A756D		.											CCDC141_ENST00000420890,NS,carcinoma,0,2	CCDC141_ENST00000420890	0	2	Substitution - Missense(2)	lung(2)	c.C2267A						.						106	96	99					2																	179733971		2203	4299	6502	SO:0001583	missense	285025	exon15			ACAGGGGCTCCTC	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2267C>A	2.37:g.179733971G>T	ENSP00000395995:p.Ala756Asp	55	0		42	2	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	G	17.69	3.450656	0.63290	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.44482	0.92;1.46;1.45;1.53	5.33	1.45	0.22620	.	0.483230	0.19381	N	0.115647	T	0.38558	0.1045	L	0.27053	0.805	0.27813	N	0.94205	D	0.61697	0.99	P	0.61201	0.885	T	0.26292	-1.0107	10	0.12430	T	0.62	-2.3845	7.2256	0.26014	0.4336:0.0:0.5664:0.0	.	181	Q6ZP82	CC141_HUMAN	D	756;200;181;756	ENSP00000395995:A756D;ENSP00000344627:A200D;ENSP00000295723:A181D;ENSP00000390190:A756D	ENSP00000295723:A181D	A	-	2	0	CCDC141	179442216	0.982000	0.34865	0.996000	0.52242	0.990000	0.78478	1.266000	0.33039	0.308000	0.22923	0.655000	0.94253	GCC	.		0.363	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		T	179733971	G	T	179733971	3	4	10	1	0	0	0	0	1	0	0	0	2782	1203	42	3	2121	3	CCDC141	2	179733971	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	16858707	179733971	63465402	18	1344											
NEUROD1	4760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	182542721	182542721	+	Silent	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:182542721C>T	ENST00000295108.3	-	2	1324	c.867G>A	c.(865-867)ccG>ccA	p.P289P	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	289					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)			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)			ACTCGGCGGACGGTTCGTGTT	0.537																																					p.P289P		.											.	.	.	0			c.G867A						.						89	88	88					2																	182542721		2203	4300	6503	SO:0001819	synonymous_variant	4760	exon2			GGCGGACGGTTCG	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.867G>A	2.37:g.182542721C>T		29	0		22	5	NM_002500	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	CCDS2283.1																																																																																			.		0.537	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		T	182542721	C	T	182542721	2	4	10	1	0	0	0	0	0	0	0	1	10387	523	19	1		1	NEUROD1	2	182542721	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	2808750	182542721	60656652	19	1345											
SMARCAL1	50485	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	217315693	217315693	+	Missense_Mutation	SNP	G	G	A	rs568131335		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:217315693G>A	ENST00000357276.4	+	12	2306	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	659					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)		GCCAAGCAGCGCAAGATAGTG	0.587									Schimke Immuno-Osseous Dysplasia				G|||	1	0.000199681	8e-04	0	5008	,	,		19836	0		0	False		,,,				2504	0				p.R659H		.											.	.	.	0			c.G1976A						.						60	61	61					2																	217315693		2203	4300	6503	SO:0001583	missense	50485	exon12	Familial Cancer Database	SIOD	AGCAGCGCAAGAT	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.1976G>A	2.37:g.217315693G>A	ENSP00000349823:p.Arg659His	18	0		28	11	NM_014140	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386865	0.95967	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.92965	-3.14;-3.14;-0.98	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96204	0.8762	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96551	0.9408	10	0.87932	D	0	-5.1217	18.3269	0.90258	0.0:0.0:1.0:0.0	.	659	Q9NZC9	SMAL1_HUMAN	H	659;659;501	ENSP00000349823:R659H;ENSP00000350940:R659H;ENSP00000375974:R501H	ENSP00000349823:R659H	R	+	2	0	SMARCAL1	217023938	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.795000	0.99099	2.559000	0.86315	0.650000	0.86243	CGC	.		0.587	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			A	217315693	G	A	217315693	3	1	10	1	0	0	0	0	1	0	0	0	14818	1087	38	1	2014	1	SMARCAL1	2	217315693	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	34772972	217315693	25883680	20	1346											
TRIP12	9320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	230672523	230672523	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:230672523C>G	ENST00000283943.5	-	16	2431	c.2253G>C	c.(2251-2253)aaG>aaC	p.K751N	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.K799N|TRIP12_ENST00000389045.3_Missense_Mutation_p.K454N	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	751	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATTTCCCTTCTTCAACATGG	0.403																																					p.K751N		.											.	.	.	0			c.G2253C						.						150	122	131					2																	230672523		2203	4300	6503	SO:0001583	missense	9320	exon16			TCCCTTCTTCAAC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2253G>C	2.37:g.230672523C>G	ENSP00000283943:p.Lys751Asn	29	0		42	12	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313097	0.40895	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.37235	1.57;1.21;1.57	5.23	4.35	0.52113	WWE domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.71674	0.998;0.981;0.981;0.981	D;D;D;D	0.76071	0.987;0.95;0.95;0.95	T	0.32428	-0.9907	10	0.30854	T	0.27	.	13.2217	0.59892	0.0:0.9217:0.0:0.0783	.	757;454;799;751	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	N	751;454;799	ENSP00000283943:K751N;ENSP00000373697:K454N;ENSP00000373696:K799N	ENSP00000283943:K751N	K	-	3	2	TRIP12	230380767	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.136000	0.50554	1.308000	0.44962	0.467000	0.42956	AAG	.		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		G	230672523	C	G	230672523	3	3	10	1	0	0	0	0	1	0	0	0	16604	912	32	5	3829	5	TRIP12	2	230672523	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	13356830	230672523	12526850	21	1347											
SP140	11262	hgsc.bcm.edu	37	2	231159016	231159016	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:231159016C>T	ENST00000392045.3	+	21	2113	c.1999C>T	c.(1999-2001)Cgt>Tgt	p.R667C	SP140_ENST00000417495.3_Missense_Mutation_p.R553C|SP140_ENST00000350136.5_Missense_Mutation_p.R536C|SP140_ENST00000486687.2_Missense_Mutation_p.R591C|SP140_ENST00000343805.6_Missense_Mutation_p.R607C|SP140_ENST00000420434.3_Missense_Mutation_p.R640C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	667					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)	p.R667C(1)		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)		TCCAAGAATACGTTACAGGAA	0.368																																					p.R667C		.											SP140_ENST00000392045,NS,carcinoma,0,1	SP140_ENST00000392045	0	1	Substitution - Missense(1)	endometrium(1)	c.C1999T						.						127	127	127					2																	231159016		1868	4103	5971	SO:0001583	missense	11262	exon21			AGAATACGTTACA	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.1999C>T	2.37:g.231159016C>T	ENSP00000375899:p.Arg667Cys	102	0		68	3	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.563017	0.13498	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.59083	0.51;0.77;0.57;0.29;0.59	3.19	-1.55	0.08558	SAND domain-like (1);	.	.	.	.	T	0.30386	0.0763	N	0.08118	0	0.09310	N	1	P;P;P;P	0.52577	0.938;0.824;0.954;0.875	B;B;B;B	0.42112	0.376;0.075;0.335;0.092	T	0.18461	-1.0336	9	0.49607	T	0.09	-1.3402	2.6773	0.05084	0.1978:0.2486:0.0:0.5535	.	640;553;607;667	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	C	591;536;667;553;607;640	ENSP00000440107:R591C;ENSP00000345846:R536C;ENSP00000375899:R667C;ENSP00000342096:R607C;ENSP00000398210:R640C	ENSP00000342096:R607C	R	+	1	0	SP140	230867260	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.104000	0.15313	-0.329000	0.08527	-1.161000	0.01788	CGT	.		0.368	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231159016	C	T	231159016	3	4	10	1	0	0	0	0	1	0	0	0	15007	536	19	1	2198	1	SP140	2	231159016	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	486493	231159016	12040357	22	1348											
COL6A3	1293	ucsc.edu;bcgsc.ca	37	2	238289918	238289918	+	Missense_Mutation	SNP	G	G	A	rs369379463		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:238289918G>A	ENST00000295550.4	-	5	1989	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	COL6A3_ENST00000353578.4_Missense_Mutation_p.R307W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R307W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R307W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R106W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	513	Nonhelical region.|VWFA 3. {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)		TTCATTTTCCGCACAGCGGTT	0.527																																					p.R513W													.	COL6A3	608	0			c.C1537T						.						99	109	106					2																	238289918		2203	4300	6503	SO:0001583	missense	1293	exon5			TTTTCCGCACAGC	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.1537C>T	2.37:g.238289918G>A	ENSP00000295550:p.Arg513Trp	20	0		27	4	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357464	0.41801	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.5	2.51	0.30379	von Willebrand factor, type A (3);	0.130904	0.32459	N	0.006071	T	0.67608	0.2911	M	0.88181	2.935	0.18873	N	0.999986	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.965;0.995;0.93;0.992;0.988;0.965	T	0.63892	-0.6534	10	0.87932	D	0	.	13.631	0.62196	0.0:0.0:0.3563:0.6437	.	513;106;106;307;307;513	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	W	513;312;307;106;307;513;307;106;513	ENSP00000295550:R513W;ENSP00000315609:R312W;ENSP00000315873:R307W;ENSP00000418285:R106W;ENSP00000386844:R307W;ENSP00000295546:R513W;ENSP00000375861:R307W;ENSP00000375860:R106W;ENSP00000389539:R513W	ENSP00000295550:R513W	R	-	1	2	COL6A3	237954657	0.000000	0.05858	0.438000	0.26821	0.292000	0.27327	0.564000	0.23563	0.654000	0.30846	0.655000	0.94253	CGG	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238289918	G	A	238289918	3	1	10	1	0	0	0	0	1	0	0	0	3708	1086	38	1	8203	1	COL6A3	2	238289918	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	7130902	238289918	4909455	23	1349											
SNED1	25992	hgsc.bcm.edu	37	2	241976736	241976736	+	Silent	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr2:241976736C>T	ENST00000310397.8	+	6	1011	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	SNED1_ENST00000342631.6_Silent_p.C337C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Silent_p.C337C|SNED1_ENST00000405547.3_Silent_p.C337C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	337	EGF-like 2. {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)		GCTGCCAGTGCCCGGCTGGCT	0.632																																					p.C337C		.											.	.	.	0			c.C1011T						.						35	39	38					2																	241976736		2033	4181	6214	SO:0001819	synonymous_variant	25992	exon6			CCAGTGCCCGGCT	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.1011C>T	2.37:g.241976736C>T		68	0		82	4	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	5.267	0.234754	0.09969	.	.	ENSG00000162804	ENST00000401644	.	.	.	4.72	2.92	0.33932	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47573	-0.9107	4	.	.	.	.	7.6157	0.28156	0.0:0.6683:0.0:0.3317	.	.	.	.	S	34	.	.	P	+	1	0	SNED1	241625409	0.835000	0.29415	0.992000	0.48379	0.222000	0.24845	0.645000	0.24782	0.419000	0.25927	0.563000	0.77884	CCC	.		0.632	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	241976736	C	T	241976736	2	4	10	1	0	0	0	0	0	0	0	1	14890	747	26	3		3	SNED1	2	241976736	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	3686818	241976736	1222637	24	1350											
RBM15B	29890	broad.mit.edu;bcgsc.ca	37	3	51430852	51430853	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:51430852_51430853delCT	ENST00000323686.4	+	1	2122_2123	c.2022_2023delCT	c.(2020-2025)gactctfs	p.S676fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	676	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGCTGCAGACTCTTCCCACGG	0.604																																					p.674_675del													.	RBM15B	47	0			c.2022_2023del						.																																			SO:0001589	frameshift_variant	29890	exon1			TGCAGACTCTTCC	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2022_2023delCT	3.37:g.51430854_51430855delCT	ENSP00000313890:p.Ser676fs	22	0		12	5	NM_013286	A4QPG7|Q6QE19|Q9BV96	Frame_Shift_Del	DEL	ENST00000323686.4	37	CCDS33764.1																																																																																			.		0.604	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		-	51430853	CT	-	51430852	7	5	10	1	0	1	0	1	0	0	0	0	13162	564	20	0	2024	0	RBM15B	3	51430852	Frame_Shift_Del	DEL	CT	TCGA-W5-AA2I-01A-32D-A417-09		51430852	146591578	25	1351											
PBRM1	55193	hgsc.bcm.edu	37	3	52621438	52621439	+	In_Frame_Ins	INS	-	-	AAT			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:52621438_52621439insAAT	ENST00000296302.7	-	19	3054_3055	c.3053_3054insATT	c.(3052-3054)ttt>ttATTt	p.1017_1018insL	PBRM1_ENST00000409767.1_In_Frame_Ins_p.1032_1033insL|PBRM1_ENST00000356770.4_In_Frame_Ins_p.985_986insL|PBRM1_ENST00000409114.3_In_Frame_Ins_p.1032_1033insL|PBRM1_ENST00000409057.1_In_Frame_Ins_p.1017_1018insL|PBRM1_ENST00000394830.3_In_Frame_Ins_p.992_993insL|PBRM1_ENST00000337303.4_In_Frame_Ins_p.1017_1018insL|PBRM1_ENST00000410007.1_In_Frame_Ins_p.992_993insL			Q86U86	PB1_HUMAN	polybromo 1	1017	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)		AGTCACTCTTAAAAACTTCTTT	0.366			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.F993delinsLF		.		Rec	yes		3	3p21	55193	polybromo 1		E	.,1	.	1252	0			c.2979_2980insATT						.																																			SO:0001652	inframe_insertion	55193	exon20			ACTCTTAAAAACT	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.3053_3054insATT	3.37:g.52621438_52621439insAAT	ENSP00000296302:p.Val1017_Phe1018insLeu	76	0		45	27	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	In_Frame_Ins	INS	ENST00000296302.7	37																																																																																				.		0.366	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		AAT	52621439	-	AAT	52621438	7	5	10	1	0	1	1	0	0	0	0	0	11530	359	13	0	1894	0	PBRM1	3	52621438	In_Frame_Ins	INS	-	TCGA-W5-AA2I-01A-32D-A417-09	1190586	52621438	145400992	26	1352											
CADM2	253559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	86010630	86010630	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:86010630T>C	ENST00000407528.2	+	7	838	c.776T>C	c.(775-777)gTt>gCt	p.V259A	CADM2_ENST00000405615.2_Missense_Mutation_p.V261A|CADM2_ENST00000383699.3_Missense_Mutation_p.V268A	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	259	Ig-like C2-type 2.				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)		CCAGAACCTGTTTTGTGGACA	0.343																																					p.V268A		.											.	.	.	0			c.T803C						.						140	137	138					3																	86010630		2203	4300	6503	SO:0001583	missense	253559	exon8			AACCTGTTTTGTG	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.776T>C	3.37:g.86010630T>C	ENSP00000384575:p.Val259Ala	94	0		41	27	NM_001167675	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449910	0.84101	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76578	-1.03;-1.03;-1.03	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88127	0.6353	M	0.81112	2.525	0.80722	D	1	D;D;D	0.76494	0.961;0.999;0.999	P;D;D	0.72625	0.774;0.973;0.978	D	0.89480	0.3749	10	0.62326	D	0.03	.	15.7234	0.77732	0.0:0.0:0.0:1.0	.	261;268;259	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	A	268;259;261	ENSP00000373200:V268A;ENSP00000384575:V259A;ENSP00000384193:V261A	ENSP00000373200:V268A	V	+	2	0	CADM2	86093320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.162000	0.67917	0.528000	0.53228	GTT	.		0.343	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		C	86010630	T	C	86010630	3	2	10	1	0	0	0	0	1	0	0	0	2574	1725	60	4	873	4	CADM2	3	86010630	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	33389192	86010630	112011800	27	1353											
OR5H6	79295	hgsc.bcm.edu	37	3	97983496	97983496	+	Missense_Mutation	SNP	C	C	T	rs398062605|rs74203917|rs145155372	byFrequency	TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:97983496C>T	ENST00000383696.2	+	1	409	c.368C>T	c.(367-369)aCt>aTt	p.T123I	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)	123						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						CTTGTAACCACTGTAACCACA	0.383																																					p.T123I		.											.	.	.	0			c.C368T						.						94	59	70					3																	97983496		2193	4234	6427	SO:0001583	missense	79295	exon1			TAACCACTGTAAC	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.368C>T	3.37:g.97983496C>T	ENSP00000373196:p.Thr123Ile	40	0		61	4	NM_001005479	Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	2.074	-0.412329	0.04799	.	.	ENSG00000230301	ENST00000383696	T	0.00469	7.21	2.19	-0.203	0.13204	GPCR, rhodopsin-like superfamily (1);	0.914442	0.09287	N	0.822835	T	0.00241	0.0007	N	0.11560	0.145	0.09310	N	1	B	0.23591	0.088	B	0.23275	0.045	T	0.37776	-0.9691	10	0.72032	D	0.01	.	4.9951	0.14235	0.0:0.4399:0.3432:0.217	.	123	Q8NGV6	OR5H6_HUMAN	I	123	ENSP00000373196:T123I	ENSP00000373196:T123I	T	+	2	0	OR5H6	99466186	0.000000	0.05858	0.076000	0.20297	0.003000	0.03518	0.098000	0.15189	0.251000	0.21505	-1.188000	0.01700	ACT	.		0.383	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			T	97983496	C	T	97983496	3	4	10	1	0	0	0	0	1	0	0	0	11202	565	20	3	370	3	OR5H6	3	97983496	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	11972866	97983496	100038934	28	1354											
CEP97	79598	hgsc.bcm.edu;bcgsc.ca	37	3	101451412	101451412	+	Silent	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:101451412C>A	ENST00000341893.3	+	6	1394	c.642C>A	c.(640-642)atC>atA	p.I214I	CEP97_ENST00000327230.4_Silent_p.I214I|CEP97_ENST00000494050.1_Silent_p.I214I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	214	LRRCT.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CACCATCCATCCCAGGATTTG	0.423																																					p.I214I		.											.	.	.	0			c.C642A						.						146	134	138					3																	101451412		2203	4300	6503	SO:0001819	synonymous_variant	79598	exon6			ATCCATCCCAGGA	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.642C>A	3.37:g.101451412C>A		69	0		69	4	NM_024548	B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	CCDS2944.1																																																																																			.		0.423	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		A	101451412	C	A	101451412	2	1	10	1	0	0	0	0	0	0	0	1	3270	845	30	3		3	CEP97	3	101451412	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	3467916	101451412	96571018	29	1355											
HHLA2	11148	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	108072349	108072349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:108072349delT	ENST00000357759.5	+	4	554	c.140delT	c.(139-141)atafs	p.I48fs	HHLA2_ENST00000467761.1_Frame_Shift_Del_p.I48fs|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000489514.2_Frame_Shift_Del_p.I48fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.I48fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	48					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						GATGAAGATATAATTCTCCCT	0.383																																					p.I47X		.											.	.	.	0			c.139delA						.						52	47	49					3																	108072349		1857	4098	5955	SO:0001589	frameshift_variant	11148	exon4			AAGATATAATTCT	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.140delT	3.37:g.108072349delT	ENSP00000350402:p.Ile48fs	77	0		73	23	NM_007072	B4DKN2|D3DN60|Q9NWQ6	Frame_Shift_Del	DEL	ENST00000357759.5	37	CCDS46883.1																																																																																			.		0.383	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		-	108072349	T	-	108072349	7	5	10	1	0	1	0	1	0	0	0	0	7122	1406	49	0	146	0	HHLA2	3	108072349	Frame_Shift_Del	DEL	T	TCGA-W5-AA2I-01A-32D-A417-09	6620937	108072349	89950081	30	1356											
MME	4311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	154836538	154836538	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:154836538G>A	ENST00000460393.1	+	8	778	c.658G>A	c.(658-660)Gac>Aac	p.D220N	MME_ENST00000360490.2_Missense_Mutation_p.D220N|MME_ENST00000492661.1_Missense_Mutation_p.D220N|MME_ENST00000493237.1_Missense_Mutation_p.D220N|MME_ENST00000462745.1_Missense_Mutation_p.D220N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	220					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)	TTTATAGATTGACCAACCTCG	0.284																																					p.D220N		.											.	.	.	0			c.G658A						.						25	25	25					3																	154836538		2183	4289	6472	SO:0001583	missense	4311	exon8			TAGATTGACCAAC		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.658G>A	3.37:g.154836538G>A	ENSP00000418525:p.Asp220Asn	97	0		97	36	NM_007287	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147394	0.94603	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.51	5.51	0.81932	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91090	0.4906	10	0.87932	D	0	-30.0758	19.0357	0.92976	0.0:0.0:1.0:0.0	.	220	P08473	NEP_HUMAN	N	220	ENSP00000420389:D220N;ENSP00000418525:D220N;ENSP00000420101:D220N;ENSP00000419653:D220N;ENSP00000417079:D220N;ENSP00000353679:D220N	ENSP00000353679:D220N	D	+	1	0	MME	156319232	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.390000	0.97246	2.586000	0.87340	0.650000	0.86243	GAC	.		0.284	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154836538	G	A	154836538	3	1	10	1	0	0	0	0	1	0	0	0	9683	1290	45	3	684	3	MME	3	154836538	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	46764189	154836538	43185892	31	1357											
GPR160	26996	bcgsc.ca	37	3	169802265	169802265	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr3:169802265G>T	ENST00000355897.5	+	4	1113	c.505G>T	c.(505-507)Gct>Tct	p.A169S		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GGCACAGAATGCTTATTCTCG	0.363																																					p.A169S													.	GPR160	26	0			c.G505T						.						72	72	72					3																	169802265		2203	4300	6503	SO:0001583	missense	26996	exon4			CAGAATGCTTATT	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.505G>T	3.37:g.169802265G>T	ENSP00000348161:p.Ala169Ser	27	0		25	3	NM_014373	D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	G	1.854	-0.464335	0.04476	.	.	ENSG00000173890	ENST00000355897	.	.	.	5.96	-0.407	0.12385	GPCR, rhodopsin-like superfamily (1);	1.899140	0.02442	N	0.084647	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.25140	0.058	T	0.12528	-1.0544	9	0.07482	T	0.82	.	1.3225	0.02119	0.2673:0.1994:0.3716:0.1617	.	169	Q9UJ42	GP160_HUMAN	S	169	.	ENSP00000348161:A169S	A	+	1	0	GPR160	171284959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.316000	0.08071	0.109000	0.17891	-0.150000	0.13652	GCT	.		0.363	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		T	169802265	G	T	169802265	3	4	10	1	0	0	0	0	1	0	0	0	6690	1319	46	3	507	3	GPR160	3	169802265	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	14965727	169802265	28220165	32	1358											
LPHN3	23284	hgsc.bcm.edu	37	4	62845391	62845391	+	Silent	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr4:62845391G>T	ENST00000514591.1	+	17	3041	c.2712G>T	c.(2710-2712)ggG>ggT	p.G904G	LPHN3_ENST00000507625.1_Silent_p.G972G|LPHN3_ENST00000509896.1_Silent_p.G972G|LPHN3_ENST00000507164.1_Silent_p.G972G|LPHN3_ENST00000508693.1_Silent_p.G972G|LPHN3_ENST00000506700.1_Silent_p.G904G|LPHN3_ENST00000545650.1_Silent_p.G904G|LPHN3_ENST00000514157.1_Silent_p.G904G|LPHN3_ENST00000512091.2_Silent_p.G904G|LPHN3_ENST00000506720.1_Silent_p.G972G|LPHN3_ENST00000514996.1_Silent_p.G904G|LPHN3_ENST00000504896.1_Silent_p.G904G|LPHN3_ENST00000508946.1_Silent_p.G904G|LPHN3_ENST00000506746.1_Silent_p.G972G|LPHN3_ENST00000511324.1_Silent_p.G972G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	891					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						TTTTCCGGGGGCTCCAGAGTG	0.498																																					p.G904G		.											LPHN3_ENST00000514591,right_upper_lobe,carcinoma,0,3	LPHN3_ENST00000514591	0	0			c.G2712T						.						216	217	217					4																	62845391		2048	4219	6267	SO:0001819	synonymous_variant	23284	exon15			CCGGGGGCTCCAG	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.2712G>T	4.37:g.62845391G>T		52	0		48	2	NM_015236	E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	9.104	1.004932	0.19199	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.5	0.174	0.15040	.	.	.	.	.	T	0.44371	0.1290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23013	-1.0200	4	.	.	.	.	3.8968	0.09143	0.1979:0.2105:0.4939:0.0977	.	.	.	.	S	362	.	.	A	+	1	0	LPHN3	62527986	0.961000	0.32948	0.993000	0.49108	0.980000	0.70556	0.092000	0.15066	0.012000	0.14892	-0.499000	0.04595	GCT	.		0.498	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			T	62845391	G	T	62845391	2	4	10	1	0	0	0	0	0	0	0	1	8952	1190	42	3		3	LPHN3	4	62845391	Silent	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09		62845391	128308885	33	1359											
ALB	213	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	74279212	74279212	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr4:74279212delC	ENST00000503124.1	+	6	676	c.469delC	c.(469-471)ctgfs	p.L158fs	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Frame_Shift_Del_p.L308fs|ALB_ENST00000415165.2_Frame_Shift_Del_p.L116fs|ALB_ENST00000401494.3_Frame_Shift_Del_p.L193fs|ALB_ENST00000295897.4_Frame_Shift_Del_p.L308fs			Q8TES7	FBF1_HUMAN	albumin	0					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)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAAAACCTCTGTTGGAAAA	0.408																																					p.P306fs		.											.	.	.	0			c.918delT						.						126	121	123					4																	74279212		2203	4300	6503	SO:0001589	frameshift_variant	213	exon8			AAACCTCTGTTGG	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.469delC	4.37:g.74279212delC	ENSP00000421027:p.Leu158fs	90	0		89	42	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Del	DEL	ENST00000503124.1	37																																																																																				.		0.408	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		-	74279212	C	-	74279212	7	5	10	1	0	1	0	1	0	0	0	0	486	912	32	0	949	0	ALB	4	74279212	Frame_Shift_Del	DEL	C	TCGA-W5-AA2I-01A-32D-A417-09	11433821	74279212	116875064	34	1360											
RG9MTD2	93587	bcgsc.ca	37	4	100477351	100477351	+	Silent	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr4:100477351C>T	ENST00000273962.3	-	5	759	c.447G>A	c.(445-447)caG>caA	p.Q149Q	TRMT10A_ENST00000394877.3_Silent_p.Q149Q|TRMT10A_ENST00000394876.2_Silent_p.Q149Q	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	149	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TCTTTTTCAGCTGGCCTCCGT	0.313																																					p.Q149Q													.	.	.	0			c.G447A						.						157	145	149					4																	100477351		2202	4299	6501	SO:0001819	synonymous_variant	93587	exon5			TTTCAGCTGGCCT	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.447G>A	4.37:g.100477351C>T		87	0		84	4	NM_001134666	B2R8X7|Q9Y2T9	Silent	SNP	ENST00000273962.3	37	CCDS3650.1																																																																																			.		0.313	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		T	100477351	C	T	100477351	2	4	10	1	0	0	0	0	0	0	0	1	13317	796	28	3		3	RG9MTD2	4	100477351	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	26198139	100477351	90676925	35	1361											
BANK1	55024	hgsc.bcm.edu	37	4	102816512	102816512	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr4:102816512G>T	ENST00000322953.4	+	6	1228	c.954G>T	c.(952-954)gaG>gaT	p.E318D	BANK1_ENST00000444316.2_Missense_Mutation_p.E288D|BANK1_ENST00000504592.1_Missense_Mutation_p.E303D|BANK1_ENST00000508653.1_Missense_Mutation_p.E185D|BANK1_ENST00000428908.1_Missense_Mutation_p.E185D	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	318	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				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)		TCAAACATGAGATACCATATT	0.303																																					p.E318D		.											BANK1,NS,carcinoma,0,1	BANK1	0	0			c.G954T						.						88	91	90					4																	102816512		2202	4297	6499	SO:0001583	missense	55024	exon6			ACATGAGATACCA	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.954G>T	4.37:g.102816512G>T	ENSP00000320509:p.Glu318Asp	66	0		59	3	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339259	0.41398	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.18810	2.88;2.88;2.19;2.19;2.88	4.94	1.69	0.24217	DBB domain (1);	0.286884	0.28871	N	0.013868	T	0.29882	0.0747	L	0.58101	1.795	0.25289	N	0.989379	P;D;D	0.56035	0.949;0.974;0.974	P;P;P	0.58721	0.844;0.806;0.806	T	0.11275	-1.0594	10	0.25106	T	0.35	.	7.035	0.24989	0.3693:0.0:0.6307:0.0	.	185;318;303	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	D	303;318;185;185;288	ENSP00000421443:E303D;ENSP00000320509:E318D;ENSP00000412748:E185D;ENSP00000422314:E185D;ENSP00000388817:E288D	ENSP00000320509:E318D	E	+	3	2	BANK1	103035535	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	0.194000	0.17135	0.068000	0.16574	0.585000	0.79938	GAG	.		0.303	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		T	102816512	G	T	102816512	3	4	10	1	0	0	0	0	1	0	0	0	1310	933	33	3	976	3	BANK1	4	102816512	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	2339161	102816512	88337764	36	1362											
SMARCA5	8467	hgsc.bcm.edu	37	4	144460080	144460080	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr4:144460080C>A	ENST00000283131.3	+	13	2221	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	587	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)					CCAAGTAGATCTTCAGGCTAT	0.393																																					p.L587I		.											SMARCA5,NS,carcinoma,0,1	SMARCA5	0	0			c.C1759A						.						150	148	149					4																	144460080		2203	4300	6503	SO:0001583	missense	8467	exon13			GTAGATCTTCAGG	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.1759C>A	4.37:g.144460080C>A	ENSP00000283131:p.Leu587Ile	40	0		46	2	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228192	0.95173	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.72282	-0.64	5.85	5.85	0.93711	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	L	0.46670	1.46	0.80722	D	1	P	0.41080	0.737	P	0.57057	0.812	T	0.79892	-0.1611	10	0.87932	D	0	0.2376	20.1766	0.98178	0.0:1.0:0.0:0.0	.	587	O60264	SMCA5_HUMAN	I	587;530;530	ENSP00000283131:L587I	ENSP00000283131:L587I	L	+	1	0	SMARCA5	144679530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.993000	0.70616	2.772000	0.95346	0.655000	0.94253	CTT	.		0.393	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			A	144460080	C	A	144460080	3	1	10	1	0	0	0	0	1	0	0	0	14816	913	32	3	1809	3	SMARCA5	4	144460080	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	41643568	144460080	46694196	37	1363											
SPATA4	132851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	177114178	177114178	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr4:177114178G>A	ENST00000280191.2	-	3	506	c.398C>T	c.(397-399)aCa>aTa	p.T133I	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	133						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)		ACAATGAATTGTTCCATGGAT	0.279																																					p.T133I		.											.	.	.	0			c.C398T						.						54	56	55					4																	177114178		2202	4290	6492	SO:0001583	missense	132851	exon3			TGAATTGTTCCAT	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.398C>T	4.37:g.177114178G>A	ENSP00000280191:p.Thr133Ile	121	0		66	22	NM_144644	Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105909	0.77096	.	.	ENSG00000150628	ENST00000280191	T	0.17370	2.28	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	L	0.28458	0.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02042	-1.1224	10	0.11485	T	0.65	-15.9476	16.5682	0.84604	0.0:0.0:1.0:0.0	.	133	Q8NEY3	SPAT4_HUMAN	I	133	ENSP00000280191:T133I	ENSP00000280191:T133I	T	-	2	0	SPATA4	177351172	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.868000	0.69605	2.705000	0.92388	0.655000	0.94253	ACA	.		0.279	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		A	177114178	G	A	177114178	3	1	10	1	0	0	0	0	1	0	0	0	15057	1377	48	3	535	3	SPATA4	4	177114178	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	32654098	177114178	14040098	38	1364											
TRIP13	9319	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	908545	908545	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:908545G>A	ENST00000166345.3	+	9	1191	c.835G>A	c.(835-837)Gct>Act	p.A279T		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	279					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CGTGGTCAATGCTGTCTTGAC	0.527																																					p.A279T		.											.	.	.	0			c.G835A						.						83	84	83					5																	908545		2203	4300	6503	SO:0001583	missense	9319	exon9			GTCAATGCTGTCT	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.835G>A	5.37:g.908545G>A	ENSP00000166345:p.Ala279Thr	35	0		35	4	NM_004237	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	19.43	3.825480	0.71143	.	.	ENSG00000071539	ENST00000166345	D	0.92965	-3.14	5.95	5.95	0.96441	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.048338	0.85682	D	0.000000	D	0.95576	0.8562	M	0.66506	2.035	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.94764	0.7939	10	0.51188	T	0.08	-0.5064	19.9739	0.97296	0.0:0.0:1.0:0.0	.	279	Q15645	PCH2_HUMAN	T	279	ENSP00000166345:A279T	ENSP00000166345:A279T	A	+	1	0	TRIP13	961545	1.000000	0.71417	0.382000	0.26119	0.219000	0.24729	5.181000	0.65054	2.826000	0.97356	0.563000	0.77884	GCT	.		0.527	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		A	908545	G	A	908545	3	1	10	1	0	0	0	0	1	0	0	0	16605	1319	46	3	869	3	TRIP13	5	908545	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09		908545	180006715	39	1365											
RNF180	285671	hgsc.bcm.edu;bcgsc.ca	37	5	63621158	63621158	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:63621158G>T	ENST00000389100.4	+	6	1445	c.1373G>T	c.(1372-1374)cGg>cTg	p.R458L		NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	458	Interaction with ZIC2. {ECO:0000250}.			R -> G (in Ref. 2; CAD89939). {ECO:0000305}.	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)		CCCTGCTTACGGACTCTGGCC	0.423																																					p.R458L		.											.	.	.	0			c.G1373T						.						256	204	220					5																	63621158		692	1591	2283	SO:0001583	missense	285671	exon6			GCTTACGGACTCT	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.1373G>T	5.37:g.63621158G>T	ENSP00000373752:p.Arg458Leu	77	0		82	4	NM_001113561	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952079	0.92660	.	.	ENSG00000164197	ENST00000389100	T	0.67523	-0.27	5.16	5.16	0.70880	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.142061	0.42682	D	0.000666	T	0.67951	0.2948	N	0.11106	0.095	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.75139	-0.3423	10	0.66056	D	0.02	-4.2552	18.0217	0.89257	0.0:0.0:1.0:0.0	.	458	Q86T96	RN180_HUMAN	L	458	ENSP00000373752:R458L	ENSP00000373752:R458L	R	+	2	0	RNF180	63656914	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.302000	0.96175	2.566000	0.86566	0.643000	0.83706	CGG	.		0.423	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		T	63621158	G	T	63621158	3	4	10	1	0	0	0	0	1	0	0	0	13509	1116	39	2	1415	2	RNF180	5	63621158	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	62712613	63621158	117294102	40	1366											
RIOK2	55781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	96504525	96504525	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:96504525C>A	ENST00000283109.3	-	7	879	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.D271Y	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	271	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATAAAGAAATCTTTAATGCAT	0.318																																					p.D271Y		.											.	.	.	0			c.G811T						.						82	92	89					5																	96504525		2203	4297	6500	SO:0001583	missense	55781	exon7			AGAAATCTTTAAT	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.811G>T	5.37:g.96504525C>A	ENSP00000283109:p.Asp271Tyr	87	0		96	39	NM_001159749	D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024393	0.54683	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.07021	3.23;3.23	5.81	4.94	0.65067	Protein kinase-like domain (1);RIO-like kinase (1);	0.181068	0.64402	D	0.000017	T	0.14141	0.0342	M	0.65320	2	0.80722	D	1	B;B	0.30605	0.287;0.152	B;B	0.35899	0.213;0.098	T	0.01604	-1.1314	10	0.54805	T	0.06	-1.7976	14.8365	0.70187	0.0:0.9302:0.0:0.0698	.	271;271	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	Y	271	ENSP00000283109:D271Y;ENSP00000420932:D271Y	ENSP00000283109:D271Y	D	-	1	0	RIOK2	96530281	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	5.767000	0.68850	1.461000	0.47929	0.650000	0.86243	GAT	.		0.318	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		A	96504525	C	A	96504525	3	1	10	1	0	0	0	0	1	0	0	0	13423	913	32	3	891	3	RIOK2	5	96504525	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	32883367	96504525	84410735	41	1367											
LMNB1	4001	hgsc.bcm.edu;bcgsc.ca	37	5	126156635	126156635	+	Silent	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:126156635G>T	ENST00000261366.5	+	7	1555	c.1194G>T	c.(1192-1194)gtG>gtT	p.V398V	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	398	Tail.				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)		CTTCCCGTGTGACAGTATCCC	0.418																																					p.V398V		.											.	.	.	0			c.G1194T						.						97	83	88					5																	126156635		2203	4300	6503	SO:0001819	synonymous_variant	4001	exon7			CCGTGTGACAGTA	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.1194G>T	5.37:g.126156635G>T		60	0		54	4	NM_005573	B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	CCDS4140.1																																																																																			.		0.418	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		T	126156635	G	T	126156635	2	4	10	1	0	0	0	0	0	0	0	1	8879	1277	45	3		3	LMNB1	5	126156635	Silent	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	29652110	126156635	54758625	42	1368											
FBN2	2201	broad.mit.edu	37	5	127624882	127624882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:127624882C>A	ENST00000508053.1	-	58	7548	c.6574G>T	c.(6574-6576)Gga>Tga	p.G2192*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.G2192*			P35556	FBN2_HUMAN	fibrillin 2	2192	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)		CGAAAAGATCCGTCGGTGTTG	0.413																																					p.G2192X													.	FBN2	858	0			c.G6574T						.						161	150	154					5																	127624882		2203	4300	6503	SO:0001587	stop_gained	2201	exon52			AAGATCCGTCGGT	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.6574G>T	5.37:g.127624882C>A	ENSP00000424571:p.Gly2192*	18	0		16	4	NM_001999	B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	50	16.752088	0.99871	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	X	2192	.	ENSP00000262464:G2192X	G	-	1	0	FBN2	127652781	1.000000	0.71417	0.586000	0.28679	0.785000	0.44390	7.706000	0.84615	2.882000	0.98803	0.655000	0.94253	GGA	.		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127624882	C	A	127624882	4	1	10	1	0	0	0	0	0	1	0	0	5725	661	23	2	2220	2	FBN2	5	127624882	Nonsense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	1468247	127624882	53290378	43	1369											
PCDHB5	26167	hgsc.bcm.edu	37	5	140517100	140517100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:140517100C>A	ENST00000231134.5	+	1	2301	c.2084C>A	c.(2083-2085)tCg>tAg	p.S695*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	695					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.S695L(1)		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)			GCATTGGCCTCGGTGTCGTCG	0.701																																					p.S695X		.											PCDHB5,face,carcinoma,0,1	PCDHB5	0	1	Substitution - Missense(1)	skin(1)	c.C2084A						.						86	89	88					5																	140517100		2203	4298	6501	SO:0001587	stop_gained	26167	exon1			TGGCCTCGGTGTC	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.2084C>A	5.37:g.140517100C>A	ENSP00000231134:p.Ser695*	64	0		46	2	NM_015669	Q549F4|Q9UFU9	Nonsense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640168	0.96693	.	.	ENSG00000113209	ENST00000231134	.	.	.	4.56	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2987	0.21101	0.0:0.547:0.2976:0.1554	.	.	.	.	X	695	.	ENSP00000231134:S695X	S	+	2	0	PCDHB5	140497284	0.000000	0.05858	0.332000	0.25469	0.053000	0.15095	-0.319000	0.08039	0.990000	0.38787	0.505000	0.49811	TCG	.		0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		A	140517100	C	A	140517100	4	1	10	1	0	0	0	0	0	1	0	0	11584	893	31	2	2086	2	PCDHB5	5	140517100	Nonsense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	12892218	140517100	40398160	44	1370											
PCDHB15	56121	hgsc.bcm.edu	37	5	140627110	140627110	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:140627110C>T	ENST00000231173.3	+	1	1964	c.1964C>T	c.(1963-1965)aCc>aTc	p.T655I		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	655	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)	p.T655I(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)			CGCTCGGCCACCGCCACGCTG	0.706																																					p.T655I		.											PCDHB15,NS,carcinoma,+1,1	PCDHB15	+1	1	Substitution - Missense(1)	liver(1)	c.C1964T						.						35	38	37					5																	140627110		2180	4262	6442	SO:0001583	missense	56121	exon1			CGGCCACCGCCAC	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.1964C>T	5.37:g.140627110C>T	ENSP00000231173:p.Thr655Ile	53	0		44	2	NM_018935	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238518	0.39598	.	.	ENSG00000113248	ENST00000231173	T	0.56444	0.46	4.58	1.49	0.22878	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70842	0.3270	M	0.77313	2.365	0.27262	N	0.958601	P	0.46064	0.872	P	0.60609	0.877	T	0.67189	-0.5733	9	0.87932	D	0	.	15.589	0.76510	0.0:0.5695:0.4305:0.0	.	655	Q9Y5E8	PCDBF_HUMAN	I	655	ENSP00000231173:T655I	ENSP00000231173:T655I	T	+	2	0	PCDHB15	140607294	0.209000	0.23505	1.000000	0.80357	0.150000	0.21749	1.032000	0.30178	0.474000	0.27392	-0.332000	0.08345	ACC	.		0.706	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		T	140627110	C	T	140627110	3	4	10	1	0	0	0	0	1	0	0	0	11579	507	18	3	1966	3	PCDHB15	5	140627110	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	110010	140627110	40288150	45	1371											
NKX2-5	1482	hgsc.bcm.edu	37	5	172659642	172659642	+	Missense_Mutation	SNP	G	G	A	rs371380388		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr5:172659642G>A	ENST00000329198.4	-	2	1178	c.905C>T	c.(904-906)gCg>gTg	p.A302V		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	302					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)			GCTCTGAACCGCATTCAAGTC	0.672																																					p.A302V	Esophageal Squamous(72;810 1219 2387 13420 44943)	.											NKX2-5,NS,carcinoma,+1,1	NKX2-5	+1	0			c.C905T						.						35	37	37					5																	172659642		2203	4300	6503	SO:0001583	missense	1482	exon2			TGAACCGCATTCA	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.905C>T	5.37:g.172659642G>A	ENSP00000327758:p.Ala302Val	39	0		35	2	NM_004387	A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018276	0.35606	.	.	ENSG00000183072	ENST00000329198	D	0.90563	-2.69	4.26	4.26	0.50523	.	0.465762	0.18317	N	0.144915	D	0.85513	0.5714	L	0.39898	1.24	0.52099	D	0.99994	B	0.20261	0.043	B	0.17098	0.017	T	0.81634	-0.0844	10	0.35671	T	0.21	.	11.4868	0.50358	0.0872:0.0:0.9128:0.0	.	302	P52952	NKX25_HUMAN	V	302	ENSP00000327758:A302V	ENSP00000327758:A302V	A	-	2	0	NKX2-5	172592248	1.000000	0.71417	0.985000	0.45067	0.778000	0.44026	4.612000	0.61169	2.207000	0.71202	0.542000	0.68232	GCG	.		0.672	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			A	172659642	G	A	172659642	3	1	10	1	0	0	0	0	1	0	0	0	10492	1087	38	1	73	1	NKX2-5	5	172659642	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	32032532	172659642	8255618	46	1372											
TDRD6	221400	hgsc.bcm.edu	37	6	46657979	46657979	+	Missense_Mutation	SNP	A	A	G	rs144670071|rs199792181|rs398110088	byFrequency	TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr6:46657979A>G	ENST00000316081.6	+	1	2114	c.2114A>G	c.(2113-2115)gAa>gGa	p.E705G	TDRD6_ENST00000544460.1_Missense_Mutation_p.E705G|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	705					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)			AAGACTGGAGAAGGAGAGCAG	0.408																																					p.E705G		.											.,2	.	205	0			c.A2114G						.						41	41	41					6																	46657979		2203	4297	6500	SO:0001583	missense	221400	exon1			CTGGAGAAGGAGA	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.2114A>G	6.37:g.46657979A>G	ENSP00000346065:p.Glu705Gly	42	1		35	3	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.933470	0.34096	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15372	2.43;2.44	5.02	3.88	0.44766	.	1.210510	0.05411	N	0.542504	T	0.03434	0.0099	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.19331	0.035;0.009	B;B	0.16289	0.015;0.007	T	0.37865	-0.9687	10	0.21014	T	0.42	-15.361	3.7682	0.08630	0.7698:0.0:0.2302:0.0	.	705;705	F5H5M3;O60522	.;TDRD6_HUMAN	G	705	ENSP00000443299:E705G;ENSP00000346065:E705G	ENSP00000346065:E705G	E	+	2	0	TDRD6	46765938	0.000000	0.05858	0.853000	0.33588	0.497000	0.33675	0.360000	0.20250	1.891000	0.54761	0.533000	0.62120	GAA	.		0.408	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		G	46657979	A	G	46657979	3	3	10	1	0	0	0	0	1	0	0	0	15781	246	9	4	2116	4	TDRD6	6	46657979	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09		46657979	124457088	47	1373											
PCLO	27445	broad.mit.edu	37	7	82595713	82595713	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr7:82595713C>G	ENST00000333891.9	-	4	3728	c.3391G>C	c.(3391-3393)Gga>Cga	p.G1131R	PCLO_ENST00000423517.2_Missense_Mutation_p.G1131R	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						GCTTTGGGTCCTGATGGTGCA	0.433																																					p.G1131R													.	PCLO	1506	0			c.G3391C						.						122	119	120					7																	82595713		2033	4194	6227	SO:0001583	missense	27445	exon4			TGGGTCCTGATGG	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.3391G>C	7.37:g.82595713C>G	ENSP00000334319:p.Gly1131Arg	27	0		23	3	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.501	0.277386	0.10403	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15834	2.39;2.39	5.59	5.59	0.84812	.	.	.	.	.	T	0.12689	0.0308	L	0.29908	0.895	0.20703	N	0.999866	P;P	0.49090	0.919;0.919	B;B	0.40009	0.246;0.316	T	0.20472	-1.0274	9	0.87932	D	0	.	7.1662	0.25691	0.1438:0.7165:0.0:0.1396	.	1131;1131	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1070;1131;1131	ENSP00000334319:G1131R;ENSP00000388393:G1131R	ENSP00000334319:G1131R	G	-	1	0	PCLO	82433649	0.081000	0.21417	0.743000	0.31040	0.038000	0.13279	1.046000	0.30354	2.763000	0.94921	0.655000	0.94253	GGA	.		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82595713	C	G	82595713	3	3	10	1	0	0	0	0	1	0	0	0	11622	690	24	5	12142	5	PCLO	7	82595713	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09		82595713	76542950	48	1374											
AASS	10157	broad.mit.edu	37	7	121716630	121716630	+	Silent	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr7:121716630G>T	ENST00000393376.1	-	23	2789	c.2694C>A	c.(2692-2694)ccC>ccA	p.P898P	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.P898P			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	898	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						CCTTTGAAAAGGGCCCCATTA	0.363																																					p.P898P													.	AASS	123	0			c.C2694A						.						102	103	102					7																	121716630		2203	4300	6503	SO:0001819	synonymous_variant	10157	exon24			TGAAAAGGGCCCC	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.2694C>A	7.37:g.121716630G>T		70	0		79	3	NM_005763	O95462	Silent	SNP	ENST00000393376.1	37	CCDS5783.1																																																																																			.		0.363	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		T	121716630	G	T	121716630	2	4	10	1	0	0	0	0	0	0	0	1	24	987	35	3		3	AASS	7	121716630	Silent	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	39120917	121716630	37422033	49	1375											
FAM71F2	346653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	128315770	128315770	+	Silent	SNP	T	T	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr7:128315770T>C	ENST00000480462.1	+	2	328	c.222T>C	c.(220-222)tcT>tcC	p.S74S	FAM71F2_ENST00000477515.1_Silent_p.S74S|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Silent_p.S65S			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	74										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTGAAGGGTCTGCCACCGTGA	0.572																																					p.S74S		.											.	.	.	0			c.T222C						.						58	59	59					7																	128315770		1970	4160	6130	SO:0001819	synonymous_variant	346653	exon2			AGGGTCTGCCACC	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.222T>C	7.37:g.128315770T>C		31	0		40	18	NM_001012454	Q0VGF6|Q0VGF7|Q86X39	Silent	SNP	ENST00000480462.1	37	CCDS47701.1																																																																																			.		0.572	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			C	128315770	T	C	128315770	2	2	10	1	0	0	0	0	0	0	0	1	5635	1567	55	4		4	FAM71F2	7	128315770	Silent	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	6599140	128315770	30822893	50	1376											
UBN2	254048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	138978118	138978118	+	Silent	SNP	C	C	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr7:138978118C>G	ENST00000473989.3	+	16	3810	c.3810C>G	c.(3808-3810)ccC>ccG	p.P1270P	UBN2_ENST00000288561.8_Silent_p.P1187P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1270						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						TCCAGTTTCCCTTGGAGATAT	0.498																																					p.P1270P		.											.	.	.	0			c.C3810G						.						109	105	106					7																	138978118		1954	4158	6112	SO:0001819	synonymous_variant	254048	exon16			GTTTCCCTTGGAG	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.3810C>G	7.37:g.138978118C>G		59	0		50	16	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2																																																																																			.		0.498	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		G	138978118	C	G	138978118	2	3	10	1	0	0	0	0	0	0	0	1	16942	668	24	5		5	UBN2	7	138978118	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	10662348	138978118	20160545	51	1377											
ABCB8	11194	hgsc.bcm.edu	37	7	150733641	150733641	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr7:150733641G>T	ENST00000297504.6	+	10	1239	c.1173G>T	c.(1171-1173)ttG>ttT	p.L391F	ABCB8_ENST00000498578.1_Missense_Mutation_p.L374F|ABCB8_ENST00000477719.1_Missense_Mutation_p.L374F|ABCB8_ENST00000358849.4_Missense_Mutation_p.L374F|ABCB8_ENST00000477092.1_Missense_Mutation_p.L374F|ABCB8_ENST00000542328.1_Missense_Mutation_p.L286F|ABCB8_ENST00000356058.4_Missense_Mutation_p.L411F			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	391	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)	GCATGGTCTTGGGTACCCTAT	0.612																																					p.L374F		.											.,1	.	65	0			c.G1122T						.						109	99	102					7																	150733641		2203	4300	6503	SO:0001583	missense	11194	exon9			GGTCTTGGGTACC	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.1173G>T	7.37:g.150733641G>T	ENSP00000297504:p.Leu391Phe	21	0		48	2	NM_007188	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.058602|3.058602	0.55325|0.55325	.|.	.|.	ENSG00000197150|ENSG00000197150	ENST00000491920|ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	.|D;D;D;D;D;D;D	.|0.89875	.|-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.17|5.17	2.38|2.38	0.29361|0.29361	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.93390|0.93390	0.7892|0.7892	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.999;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.996;0.998;0.998;0.996;0.999;0.999	D|D	0.91717|0.91717	0.5386|0.5386	5|10	.|0.72032	.|D	.|0.01	-2.2446|-2.2446	8.7793|8.7793	0.34781|0.34781	0.2529:0.0:0.7471:0.0|0.2529:0.0:0.7471:0.0	.|.	.|286;374;391;374;374;411	.|G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.|.;.;ABCB8_HUMAN;.;.;.	W|F	107|374;357;391;286;374;411;374;374	.|ENSP00000351717:L374F;ENSP00000297504:L391F;ENSP00000438776:L286F;ENSP00000418271:L374F;ENSP00000348353:L411F;ENSP00000419891:L374F;ENSP00000419558:L374F	.|ENSP00000297504:L391F	G|L	+|+	1|3	0|2	ABCB8|ABCB8	150364574|150364574	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.751000|0.751000	0.42716|0.42716	0.918000|0.918000	0.28678|0.28678	0.207000|0.207000	0.20607|0.20607	-0.291000|-0.291000	0.09656|0.09656	GGG|TTG	.		0.612	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		T	150733641	G	T	150733641	3	4	10	1	0	0	0	0	1	0	0	0	47	1339	47	3	1156	3	ABCB8	7	150733641	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	11755523	150733641	8405022	52	1378											
MLL3	58508	hgsc.bcm.edu	37	7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr7:151921114A>T	ENST00000262189.6	-	20	3527	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C1103*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1103					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.C1103*(10)									CACATTGTCTACATTGCAGAA	0.338																																					p.C1103X		.											MLL3_ENST00000355193,NS,carcinoma,0,10	MLL3_ENST00000355193	0	10	Substitution - Nonsense(10)	kidney(6)|endometrium(4)	c.T3309A						.						56	51	52					7																	151921114		2203	4300	6503	SO:0001587	stop_gained	58508	exon20			TTGTCTACATTGC	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.3309T>A	7.37:g.151921114A>T	ENSP00000262189:p.Cys1103*	88	2		103	6	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	41	8.814636	0.98964	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	-2.79	0.05841	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2367	0.59972	0.4373:0.0:0.5627:0.0	rs4024337	.	.	.	X	1103	.	ENSP00000262189:C1103X	C	-	3	2	MLL3	151552047	0.735000	0.28153	0.983000	0.44433	0.992000	0.81027	-0.154000	0.10130	-0.431000	0.07307	0.528000	0.53228	TGT	.		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151921114	A	T	151921114	4	4	10	1	0	0	0	0	0	1	0	0	9660	389	14	5	11586	5	MLL3	7	151921114	Nonsense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	1187473	151921114	7217549	53	1379											
BLK	640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	11412317	11412317	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr8:11412317C>T	ENST00000259089.4	+	7	1130	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.R109C|RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	180	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTATAAGATCCGCTGCCTGGA	0.567																																					p.R180C		.											.	.	.	0			c.C538T						.						74	70	71					8																	11412317		2203	4300	6503	SO:0001583	missense	640	exon7			AAGATCCGCTGCC	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.538C>T	8.37:g.11412317C>T	ENSP00000259089:p.Arg180Cys	46	0		39	16	NM_001715	Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341693	0.61073	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	D;D	0.89196	-2.48;-2.48	4.57	4.57	0.56435	SH2 motif (5);	0.000000	0.43919	D	0.000511	D	0.94850	0.8336	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95378	0.8470	10	0.87932	D	0	.	11.9079	0.52723	0.1741:0.8259:0.0:0.0	.	180	P51451	BLK_HUMAN	C	180;180;109	ENSP00000259089:R180C;ENSP00000433663:R109C	ENSP00000259089:R180C	R	+	1	0	BLK	11449726	1.000000	0.71417	0.997000	0.53966	0.671000	0.39405	3.594000	0.54008	2.249000	0.74217	0.462000	0.41574	CGC	.		0.567	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			T	11412317	C	T	11412317	3	4	10	1	0	0	0	0	1	0	0	0	1446	652	23	1	560	1	BLK	8	11412317	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09		11412317	134951705	54	1380											
DCAF4L2	138009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	88886183	88886183	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr8:88886183G>A	ENST00000319675.3	-	1	113	c.17C>T	c.(16-18)cCg>cTg	p.P6L		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.P6L		.											DCAF4L2,NS,carcinoma,0,1	DCAF4L2	0	0			c.C17T						.						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>T	8.37:g.88886183G>A	ENSP00000316496:p.Pro6Leu	30	0		30	11	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136650	0.06711	.	.	ENSG00000176566	ENST00000319675	T	0.57273	0.41	1.39	-2.79	0.05841	.	0.486110	0.21957	N	0.066645	T	0.14141	0.0342	N	0.00760	-1.21	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.16012	-1.0417	10	0.23891	T	0.37	.	2.2198	0.03970	0.5561:0.0:0.2011:0.2428	.	6	Q8NA75	DC4L2_HUMAN	L	6	ENSP00000316496:P6L	ENSP00000316496:P6L	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	.		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		A	88886183	G	A	88886183	3	1	10	1	0	0	0	0	1	0	0	0	4281	1116	39	1	1174	1	DCAF4L2	8	88886183	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	77473866	88886183	57477839	55	1381											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110457602	110457602	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr8:110457602C>A	ENST00000378402.5	+	38	5608	c.5504C>A	c.(5503-5505)tCt>tAt	p.S1835Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1835	IPT/TIG 11.				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)			CCAGTAGCATCTCTATCACCA	0.498										HNSCC(38;0.096)																											p.S1835Y		.											PKHD1L1,NS,carcinoma,0,1	PKHD1L1	0	0			c.C5504A						.						76	77	77					8																	110457602		1947	4134	6081	SO:0001583	missense	93035	exon38			TAGCATCTCTATC	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.5504C>A	8.37:g.110457602C>A	ENSP00000367655:p.Ser1835Tyr	32	0		35	2	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313706	0.40996	.	.	ENSG00000205038	ENST00000378402	T	0.81247	-1.47	6.03	5.15	0.70609	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.549745	0.19099	N	0.122752	D	0.92156	0.7513	M	0.93720	3.45	0.26168	N	0.979904	D	0.89917	1.0	D	0.79108	0.992	D	0.87182	0.2228	10	0.87932	D	0	.	15.2224	0.73324	0.0:0.8589:0.1411:0.0	.	1835	Q86WI1	PKHL1_HUMAN	Y	1835	ENSP00000367655:S1835Y	ENSP00000367655:S1835Y	S	+	2	0	PKHD1L1	110526778	0.055000	0.20627	0.761000	0.31378	0.220000	0.24768	2.420000	0.44679	1.547000	0.49401	0.655000	0.94253	TCT	.		0.498	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110457602	C	A	110457602	3	1	10	1	0	0	0	0	1	0	0	0	12011	913	32	3	5654	3	PKHD1L1	8	110457602	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	21571419	110457602	35906420	56	1382											
KCNQ3	3786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	133153423	133153423	+	Missense_Mutation	SNP	C	C	T	rs138181943		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr8:133153423C>T	ENST00000388996.4	-	10	1838	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R353H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R473H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	473					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)	GAAGGCCGTGCGGAAACGCTC	0.458																																					p.R473H		.											.	.	.	0			c.G1418A						.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	129	133	132		1058,1418	5.6	1	8	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	KCNQ3	NM_001204824.1,NM_004519.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	353/753,473/873	133153423	1,13005	2203	4300	6503	SO:0001583	missense	3786	exon10			GCCGTGCGGAAAC	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.1418G>A	8.37:g.133153423C>T	ENSP00000373648:p.Arg473His	44	0		35	13	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945963	0.73672	2.27E-4	0.0	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99758	-6.65;-6.65;-6.65	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.171949	0.50627	D	0.000107	D	0.99588	0.9851	L	0.43152	1.355	0.50813	D	0.99989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98290	1.0513	10	0.62326	D	0.03	-15.7267	18.6978	0.91607	0.0:1.0:0.0:0.0	.	473;473	E7ET42;O43525	.;KCNQ3_HUMAN	H	473;353;473;462;352	ENSP00000373648:R473H;ENSP00000429799:R353H;ENSP00000428790:R473H	ENSP00000373648:R473H	R	-	2	0	KCNQ3	133222605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.469000	0.80959	2.652000	0.90054	0.655000	0.94253	CGC	0.000		0.458	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		T	133153423	C	T	133153423	3	4	10	1	0	0	0	0	1	0	0	0	8111	768	27	1	1224	1	KCNQ3	8	133153423	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	22695821	133153423	13210599	57	1383											
KIAA1432	57589	hgsc.bcm.edu;bcgsc.ca	37	9	5745941	5745941	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr9:5745941C>A	ENST00000414202.2	+	11	1297	c.1106C>A	c.(1105-1107)gCa>gAa	p.A369E	KIAA1432_ENST00000251879.6_Missense_Mutation_p.A369E|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A290E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.A290E|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A290E	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)		AGCTGGGGTGCAGAAGGCTAT	0.413																																					p.A369E		.											.	.	.	0			c.C1106A						.						98	93	95					9																	5745941		2203	4300	6503	SO:0001583	missense	57589	exon11			GGGGTGCAGAAGG																												ENST00000414202.2:c.1106C>A	9.37:g.5745941C>A	ENSP00000416696:p.Ala369Glu	63	0		69	4	NM_001206557		Missense_Mutation	SNP	ENST00000414202.2	37	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.038791|4.038791	0.75617|0.75617	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94|.	6.17|6.17	6.17|6.17	0.99709|0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.162637|.	0.53938|.	D|.	0.000044|.	T|.	0.69468|.	0.3114|.	L|L	0.42245|0.42245	1.32|1.32	0.47214|0.47214	D|D	0.99935|0.99935	B;B;B|.	0.33583|.	0.361;0.418;0.302|.	B;B;B|.	0.31101|.	0.058;0.079;0.124|.	T|.	0.61816|.	-0.6985|.	10|.	0.06757|.	T|.	0.87|.	-17.9966|-17.9966	20.4898|20.4898	0.99202|0.99202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	290;369;369|.	B7ZM67;Q4ADV7;G5E932|.	.;RIC1_HUMAN;.|.	E|X	369;369;290;290;290|297	ENSP00000251879:A369E;ENSP00000416696:A369E;ENSP00000370943:A290E;ENSP00000402240:A290E;ENSP00000398823:A290E|.	ENSP00000251879:A369E|.	A|C	+|+	2|3	0|2	KIAA1432|KIAA1432	5735941|5735941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.308000|5.308000	0.65768|0.65768	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|TGC	.		0.413	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			A	5745941	C	A	5745941	3	1	10	1	0	0	0	0	1	0	0	0	8260	710	25	3	907	3	KIAA1432	9	5745941	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09		5745941	135467490	58	1384											
SLC24A2	25769	hgsc.bcm.edu;bcgsc.ca	37	9	19786216	19786216	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr9:19786216G>T	ENST00000341998.2	-	1	710	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L217I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	217					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATAACAAAGAGGATGTTGAAT	0.433																																					p.L217I		.											.	.	.	0			c.C649A						.						106	99	101					9																	19786216		2203	4300	6503	SO:0001583	missense	25769	exon1			CAAAGAGGATGTT	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.649C>A	9.37:g.19786216G>T	ENSP00000344801:p.Leu217Ile	53	0		34	4	NM_001193288	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768055	0.69878	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.69561	-0.41;-0.41	5.91	5.02	0.67125	Sodium/calcium exchanger membrane region (1);	0.059732	0.64402	D	0.000002	D	0.87321	0.6148	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91362	0.5112	9	.	.	.	.	15.0355	0.71744	0.0679:0.0:0.9321:0.0	.	217;217	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	217	ENSP00000344801:L217I;ENSP00000286344:L217I	.	L	-	1	0	SLC24A2	19776216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.747000	0.74872	1.508000	0.48769	0.655000	0.94253	CTC	.		0.433	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		T	19786216	G	T	19786216	3	4	10	1	0	0	0	0	1	0	0	0	14511	1000	35	3	1376	3	SLC24A2	9	19786216	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	14040275	19786216	121427215	59	1385											
RNF208	727800	hgsc.bcm.edu;broad.mit.edu	37	9	140114946	140114946	+	Missense_Mutation	SNP	C	C	A	rs565557716		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr9:140114946C>A	ENST00000392827.1	-	2	887	c.719G>T	c.(718-720)cGg>cTg	p.R240L	RNF208_ENST00000391553.1_Missense_Mutation_p.R240L			Q9H0X6	RN208_HUMAN	ring finger protein 208	240					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)		ACAGTACTGCCGGAAGGTCTG	0.701																																					p.R240L		.											.	.	.	0			c.G719T						.						18	21	20					9																	140114946		2171	4287	6458	SO:0001583	missense	727800	exon1			TACTGCCGGAAGG	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.719G>T	9.37:g.140114946C>A	ENSP00000376572:p.Arg240Leu	8	0		7	5	NM_031297	A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149736	0.78001	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.34072	1.38;1.38	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	L	0.43152	1.355	0.58432	D	0.999997	D	0.67145	0.996	P	0.60173	0.87	T	0.35251	-0.9796	10	0.56958	D	0.05	-13.3462	9.1648	0.37046	0.0:0.8976:0.0:0.1024	.	240	Q9H0X6	RN208_HUMAN	L	240	ENSP00000376572:R240L;ENSP00000375397:R240L	ENSP00000375397:R240L	R	-	2	0	RNF208	139234767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.913000	0.63341	2.169000	0.68431	0.491000	0.48974	CGG	.		0.701	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		A	140114946	C	A	140114946	3	1	10	1	0	0	0	0	1	0	0	0	13520	652	23	2	70	2	RNF208	9	140114946	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	120328730	140114946	1098485	60	1386											
WDR37	22884	bcgsc.ca	37	10	1170283	1170283	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:1170283C>T	ENST00000358220.1	+	12	1373	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	WDR37_ENST00000263150.4_Missense_Mutation_p.A410V|WDR37_ENST00000482165.1_3'UTR			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	410										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ACGGACTCTGCCATTAACAGG	0.423																																					p.A410V													.	WDR37	52	0			c.C1229T						.						116	106	109					10																	1170283		2203	4300	6503	SO:0001583	missense	22884	exon12			ACTCTGCCATTAA	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1229C>T	10.37:g.1170283C>T	ENSP00000350954:p.Ala410Val	43	0		61	4	NM_014023	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248609	0.95305	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01359	4.98;4.98	5.64	5.64	0.86602	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	0.06735	0.0172	M	0.73217	2.22	0.80722	D	1	D;D	0.67145	0.97;0.996	P;P	0.60609	0.681;0.877	T	0.55153	-0.8185	10	0.16420	T	0.52	.	19.6953	0.96022	0.0:1.0:0.0:0.0	.	411;410	A8K976;Q9Y2I8	.;WDR37_HUMAN	V	410	ENSP00000350954:A410V;ENSP00000263150:A410V	ENSP00000263150:A410V	A	+	2	0	WDR37	1160283	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.665000	0.83852	2.665000	0.90641	0.591000	0.81541	GCC	.		0.423	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		T	1170283	C	T	1170283	3	4	10	1	0	0	0	0	1	0	0	0	17340	739	26	3	1271	3	WDR37	10	1170283	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09		1170283	134364464	61	1387											
GATA3	2625	hgsc.bcm.edu;bcgsc.ca	37	10	8100409	8100409	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:8100409G>T	ENST00000346208.3	+	3	838	c.383G>T	c.(382-384)gGg>gTg	p.G128V	GATA3_ENST00000379328.3_Missense_Mutation_p.G128V|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	128					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						GGCTCCCCGGGGCCCCTCTCC	0.721			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																														p.G128V		.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	.	0			c.G383T						.						54	68	63					10																	8100409		2203	4299	6502	SO:0001583	missense	2625	exon3			CCCCGGGGCCCCT	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.383G>T	10.37:g.8100409G>T	ENSP00000341619:p.Gly128Val	110	0		106	5	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105324	0.77096	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96554	-4.05;-4.0	5.4	5.4	0.78164	.	0.112559	0.64402	D	0.000017	D	0.95984	0.8692	M	0.73962	2.25	0.80722	D	1	P;B	0.45986	0.87;0.118	B;B	0.41571	0.36;0.098	D	0.96351	0.9258	10	0.59425	D	0.04	-19.9044	19.1817	0.93627	0.0:0.0:1.0:0.0	.	128;128	P23771;P23771-2	GATA3_HUMAN;.	V	128	ENSP00000368632:G128V;ENSP00000341619:G128V	ENSP00000341619:G128V	G	+	2	0	GATA3	8140415	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.014000	0.76380	2.526000	0.85167	0.561000	0.74099	GGG	.		0.721	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		T	8100409	G	T	8100409	3	4	10	1	0	0	0	0	1	0	0	0	6280	1232	43	3	389	3	GATA3	10	8100409	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	6930126	8100409	127434338	62	1388											
PHYH	5264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	13337503	13337503	+	Missense_Mutation	SNP	G	G	A	rs369205198		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:13337503G>A	ENST00000263038.4	-	3	296	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	PHYH_ENST00000396913.2_De_novo_Start_OutOfFrame|PHYH_ENST00000396920.3_Missense_Mutation_p.R61C	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	80					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)	TACCGAAAGCGTTGAATATCG	0.348																																					p.R80C		.											.	.	.	0			c.C238T						.	G	,CYS/ARG	0,4402		0,0,2201	81	82	82		,238	3.8	0	10		82	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense	PHYH	NM_001037537.1,NM_006214.3	,180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,benign	,80/339	13337503	1,13001	2201	4300	6501	SO:0001583	missense	5264	exon3			GAAAGCGTTGAAT		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.238C>T	10.37:g.13337503G>A	ENSP00000263038:p.Arg80Cys	132	0		150	40	NM_006214	A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	6.097	0.386147	0.11524	0.0	1.16E-4	ENSG00000107537	ENST00000263038;ENST00000396920;ENST00000479604	D;D;D	0.90324	-2.65;-2.65;-2.65	5.63	3.79	0.43588	.	0.102433	0.64402	D	0.000004	D	0.87454	0.6181	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.28419	0.211;0.125	B;B	0.30572	0.052;0.117	T	0.82979	-0.0188	10	0.46703	T	0.11	-7.6869	8.6893	0.34256	0.2924:0.0:0.7076:0.0	.	61;80	B1ALH6;O14832	.;PAHX_HUMAN	C	80;61;80	ENSP00000263038:R80C;ENSP00000380126:R61C;ENSP00000420117:R80C	ENSP00000263038:R80C	R	-	1	0	PHYH	13377509	0.985000	0.35326	0.008000	0.14137	0.047000	0.14425	1.488000	0.35551	0.750000	0.32877	0.552000	0.68991	CGC	.		0.348	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			A	13337503	G	A	13337503	3	1	10	1	0	0	0	0	1	0	0	0	11903	1145	40	1	806	1	PHYH	10	13337503	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	5237094	13337503	122197244	63	1389											
DNA2	1763	hgsc.bcm.edu	37	10	70209804	70209804	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:70209804G>T	ENST00000358410.3	-	6	970	c.920C>A	c.(919-921)tCt>tAt	p.S307Y	DNA2_ENST00000399180.2_Missense_Mutation_p.S393Y|DNA2_ENST00000399179.2_Missense_Mutation_p.S307Y	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	307	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						GTGTTCAATAGAATTTGATTC	0.318																																					p.S307Y		.											DNA2L,NS,carcinoma,0,2	DNA2L	0	0			c.C920A						.						72	62	65					10																	70209804		1810	4078	5888	SO:0001583	missense	1763	exon6			TCAATAGAATTTG	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.920C>A	10.37:g.70209804G>T	ENSP00000351185:p.Ser307Tyr	72	0		32	2	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.236606	0.79800	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.95171	-3.12;-3.63;-3.09	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97510	1.0066	10	0.54805	T	0.06	.	18.525	0.90968	0.0:0.0:1.0:0.0	.	307;307	F8VR31;P51530	.;DNA2L_HUMAN	Y	307;393;307;307	ENSP00000382133:S393Y;ENSP00000382132:S307Y;ENSP00000351185:S307Y	ENSP00000351185:S307Y	S	-	2	0	DNA2	69879810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.086000	0.94088	2.389000	0.81357	0.655000	0.94253	TCT	.		0.318	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			T	70209804	G	T	70209804	3	4	10	1	0	0	0	0	1	0	0	0	4610	942	33	3	2326	3	DNA2	10	70209804	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	56872301	70209804	65324943	64	1390											
IDE	3416	hgsc.bcm.edu	37	10	94228698	94228698	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:94228698G>A	ENST00000265986.6	-	19	2314	c.2258C>T	c.(2257-2259)gCt>gTt	p.A753V	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A198V	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	753					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TTTGGTATGAGCATGTTCAAT	0.398																																					p.A753V		.											IDE,colon,carcinoma,0,1	IDE	0	0			c.C2258T						.						124	113	116					10																	94228698		2203	4300	6503	SO:0001583	missense	3416	exon19			GTATGAGCATGTT	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2258C>T	10.37:g.94228698G>A	ENSP00000265986:p.Ala753Val	45	0		47	2	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777421	0.49786	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.08458	3.09;3.09	5.6	5.6	0.85130	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.33245	0.995	0.80722	D	1	P;P	0.39551	0.655;0.678	B;B	0.32805	0.1;0.153	T	0.34825	-0.9813	10	0.28530	T	0.3	-11.1077	19.2269	0.93821	0.0:0.0:1.0:0.0	.	753;198	P14735;B3KSB8	IDE_HUMAN;.	V	753;198	ENSP00000265986:A753V;ENSP00000360637:A198V	ENSP00000265986:A753V	A	-	2	0	IDE	94218678	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.134000	0.94467	2.638000	0.89438	0.655000	0.94253	GCT	.		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		A	94228698	G	A	94228698	3	1	10	1	0	0	0	0	1	0	0	0	7520	971	34	3	829	3	IDE	10	94228698	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	24018894	94228698	41306049	65	1391											
C10orf28	27291	hgsc.bcm.edu	37	10	99968068	99968068	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:99968068C>A	ENST00000298999.3	+	5	500	c.197C>A	c.(196-198)cCg>cAg	p.P66Q	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P66Q	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	66							nucleotide binding (GO:0000166)										AAAGACAAACCGGAGGCTCGA	0.368																																					p.P66Q		.											C10orf28,NS,carcinoma,0,1	C10orf28	0	0			c.C197A						.						71	79	76					10																	99968068		2202	4299	6501	SO:0001583	missense	27291	exon4			ACAAACCGGAGGC	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.197C>A	10.37:g.99968068C>A	ENSP00000298999:p.Pro66Gln	59	0		43	2	NM_001256620	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	5.800	0.331933	0.10956	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.07908	3.15;3.15	5.95	0.925	0.19424	.	0.550760	0.17907	N	0.157995	T	0.09512	0.0234	L	0.46157	1.445	0.09310	N	0.999998	P;P	0.49696	0.927;0.927	P;P	0.47864	0.559;0.457	T	0.18808	-1.0325	9	.	.	.	0.6222	5.3852	0.16215	0.0:0.5611:0.135:0.3039	.	66;66	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	Q	66	ENSP00000359616:P66Q;ENSP00000298999:P66Q	.	P	+	2	0	C10orf28	99958058	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.405000	0.07196	-0.063000	0.13065	-0.124000	0.14976	CCG	.		0.368	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		A	99968068	C	A	99968068	3	1	10	1	0	0	0	0	1	0	0	0	1606	652	23	2	199	2	C10orf28	10	99968068	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	5739370	99968068	35566679	66	1392											
PKD2L1	9033	hgsc.bcm.edu	37	10	102059361	102059361	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:102059361G>T	ENST00000318222.3	-	3	846	c.464C>A	c.(463-465)gCg>gAg	p.A155E	PKD2L1_ENST00000353274.3_Missense_Mutation_p.A155E|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A155E	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	155					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)		CCAGAAGTCCGCCATGCTGCT	0.493																																					p.A155E		.											PKD2L1,colon,carcinoma,0,1	PKD2L1	0	0			c.C464A						.						106	97	100					10																	102059361		2203	4300	6503	SO:0001583	missense	9033	exon3			AAGTCCGCCATGC	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.464C>A	10.37:g.102059361G>T	ENSP00000325296:p.Ala155Glu	53	0		37	2	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	1.587	-0.530192	0.04112	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.67865	-0.29;-0.29;-0.29	5.31	0.55	0.17219	Polycystin cation channel, PKD1/PKD2 (1);	0.513904	0.22212	N	0.063098	T	0.44726	0.1307	N	0.17278	0.47	0.09310	N	1	B;B	0.17268	0.021;0.001	B;B	0.17722	0.019;0.015	T	0.25606	-1.0127	10	0.02654	T	1	-0.3116	15.3864	0.74706	0.0:0.0:0.4356:0.5644	.	108;155	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	E	155	ENSP00000345068:A155E;ENSP00000266049:A155E;ENSP00000325296:A155E	ENSP00000325296:A155E	A	-	2	0	PKD2L1	102049351	0.769000	0.28531	0.287000	0.24848	0.922000	0.55478	0.695000	0.25527	0.191000	0.20236	0.555000	0.69702	GCG	.		0.493	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		T	102059361	G	T	102059361	3	4	10	1	0	0	0	0	1	0	0	0	12006	1087	38	2	2009	2	PKD2L1	10	102059361	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	2091293	102059361	33475386	67	1393											
DMBT1	1755	hgsc.bcm.edu	37	10	124390549	124390549	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr10:124390549G>T	ENST00000338354.3	+	46	5817	c.5711G>T	c.(5710-5712)gGt>gTt	p.G1904V	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1894V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G624V|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1904V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1276V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1894V|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1276V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1904	SRCR 14. {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)	p.G2033V(1)		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)				ATTTACCATGGTGGCACCTGG	0.493																																					p.G1904V	Ovarian(182;93 2026 18125 22222 38972)	.											DMBT1_ENST00000368915,NS,carcinoma,0,1	DMBT1_ENST00000368915	0	1	Substitution - Missense(1)	ovary(1)	c.G5711T						.						128	124	125					10																	124390549		2001	4161	6162	SO:0001583	missense	1755	exon46			ACCATGGTGGCAC		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.5711G>T	10.37:g.124390549G>T	ENSP00000342210:p.Gly1904Val	99	1		66	3	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		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239565	0.39598	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.3	-6.03	0.02185	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.48021	0.1477	M	0.64404	1.975	0.09310	N	1	P;D;P;D;D;D;D	0.89917	0.951;0.998;0.589;0.998;1.0;0.99;0.971	P;D;B;D;D;D;D	0.79108	0.674;0.947;0.272;0.991;0.992;0.92;0.93	T	0.53599	-0.8416	9	0.54805	T	0.06	.	15.174	0.72896	0.7333:0.0:0.2667:0.0	.	624;1884;1153;2033;1276;1894;1904	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	V	1904;2033;1904;1904;1904;1904;1276;1894;1276;1276;1904;1894;1276;50;624	ENSP00000342210:G1904V;ENSP00000343175:G1894V;ENSP00000327747:G1276V;ENSP00000357905:G1904V;ENSP00000357951:G1894V;ENSP00000357952:G1276V;ENSP00000352593:G624V	ENSP00000331522:G1276V	G	+	2	0	DMBT1	124380539	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.548000	0.02184	-0.980000	0.03524	-0.136000	0.14681	GGT	.		0.493	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124390549	G	T	124390549	3	4	10	1	0	0	0	0	1	0	0	0	4591	1261	44	3	5893	3	DMBT1	10	124390549	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	22331188	124390549	11144198	68	1394											
DEAF1	10522	bcgsc.ca	37	11	674557	674557	+	Silent	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:674557G>A	ENST00000382409.3	-	10	1966	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	DEAF1_ENST00000338675.6_Silent_p.H405H|RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	494					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)		CTGCGTCAGCGTGGATCTTGG	0.592																																					p.H494H													.	DEAF1	47	0			c.C1482T						.						221	169	186					11																	674557		2203	4300	6503	SO:0001819	synonymous_variant	10522	exon10			GTCAGCGTGGATC	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.1482C>T	11.37:g.674557G>A		41	0		25	3	NM_021008	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000382409.3	37	CCDS31327.1																																																																																			.		0.592	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		A	674557	G	A	674557	2	1	10	1	0	0	0	0	0	0	0	1	4389	1136	40	1		1	DEAF1	11	674557	Silent	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09		674557	134331959	69	1395											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1256439	1256439	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:1256439T>G	ENST00000529681.1	+	22	2813	c.2755T>G	c.(2755-2757)Tac>Gac	p.Y919D	MUC5B_ENST00000447027.1_Missense_Mutation_p.Y922D	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	919	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|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)		CAGCTGCGAGTACATCTTGGC	0.652																																					p.Y919D		.											.	.	.	0			c.T2755G						.						81	94	89					11																	1256439		2119	4228	6347	SO:0001583	missense	727897	exon22			TGCGAGTACATCT	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.2755T>G	11.37:g.1256439T>G	ENSP00000436812:p.Tyr919Asp	33	0		42	13	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	9.926	1.213439	0.22289	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.68025	-0.3;-0.3	4.31	4.31	0.51392	von Willebrand factor, type D domain (3);	.	.	.	.	D	0.87132	0.6101	H	0.96691	3.865	0.48901	D	0.999725	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.998	D	0.91285	0.5054	9	0.87932	D	0	.	13.7682	0.63008	0.0:0.0:0.0:1.0	.	919;1578;922	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	D	919;922;920;955	ENSP00000436812:Y919D;ENSP00000415793:Y922D	ENSP00000343037:Y920D	Y	+	1	0	MUC5B	1213015	1.000000	0.71417	0.995000	0.50966	0.284000	0.27059	5.971000	0.70440	1.837000	0.53436	0.449000	0.29647	TAC	.		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1256439	T	G	1256439	3	3	10	1	0	0	0	0	1	0	0	0	10017	1638	57	4	2850	4	MUC5B	11	1256439	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	581882	1256439	133750077	70	1396											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1273681	1273681	+	Missense_Mutation	SNP	C	C	T	rs377111871		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:1273681C>T	ENST00000529681.1	+	32	15030	c.14972C>T	c.(14971-14973)cCg>cTg	p.P4991L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P4994L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4991					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)		ACCTCCCCACCGCCAGTGTCC	0.662																																					p.P4991L		.											.	.	.	0			c.C14972T						.	C	LEU/PRO	0,4212		0,0,2106	42	54	50		14972	4.6	0.1	11		50	1,8409		0,1,4204	no	missense	MUC5B	NM_002458.2	98	0,1,6310	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	4991/5763	1273681	1,12621	2106	4205	6311	SO:0001583	missense	727897	exon32			CCCCACCGCCAGT	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.14972C>T	11.37:g.1273681C>T	ENSP00000436812:p.Pro4991Leu	44	0		48	18	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566295	0.27915	0.0	1.19E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19250	2.16;2.35	4.63	4.63	0.57726	.	.	.	.	.	T	0.40979	0.1139	M	0.64170	1.965	0.20975	N	0.999811	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.16100	-1.0414	9	0.87932	D	0	.	9.4062	0.38462	0.0:0.8986:0.0:0.1014	.	5313;4994	A7Y9J9;E9PBJ0	.;.	L	4991;4994;4935;4690	ENSP00000436812:P4991L;ENSP00000415793:P4994L	ENSP00000343037:P4935L	P	+	2	0	MUC5B	1230257	0.000000	0.05858	0.090000	0.20809	0.011000	0.07611	0.671000	0.25172	2.508000	0.84585	0.561000	0.74099	CCG	.		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1273681	C	T	1273681	3	4	10	1	0	0	0	0	1	0	0	0	10017	652	23	1	15107	1	MUC5B	11	1273681	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	17242	1273681	133732835	71	1397											
CD81	975	broad.mit.edu	37	11	2416708	2416708	+	Silent	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:2416708C>T	ENST00000263645.5	+	5	673	c.417C>T	c.(415-417)gaC>gaT	p.D139D	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Silent_p.D177D|CD81_ENST00000492627.1_Silent_p.D68D|CD81_ENST00000526072.1_Silent_p.D68D|CD81_ENST00000481687.1_Silent_p.D145D	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	139					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	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)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		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;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGATGATGACGCCAACAACG	0.672																																					p.D139D													.	CD81	11	0			c.C417T						.						93	86	89					11																	2416708		2202	4298	6500	SO:0001819	synonymous_variant	975	exon5			TGATGACGCCAAC		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.417C>T	11.37:g.2416708C>T		39	0		41	3	NM_004356	P18582|Q5U0J6	Silent	SNP	ENST00000263645.5	37	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	C	5.491	0.275600	0.10403	.	.	ENSG00000110651	ENST00000464784	.	.	.	3.63	-7.27	0.01461	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.32883	D	0.510867	.	.	.	.	.	.	T	0.17806	-1.0357	4	.	.	.	.	1.5265	0.02526	0.4601:0.1224:0.1079:0.3096	.	.	.	.	M	124	.	.	T	+	2	0	CD81	2373284	0.000000	0.05858	0.472000	0.27241	0.660000	0.38997	-7.477000	0.00035	-3.149000	0.00231	-1.028000	0.02416	ACG	.		0.672	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		T	2416708	C	T	2416708	2	4	10	1	0	0	0	0	0	0	0	1	3046	535	19	1		1	CD81	11	2416708	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	1143027	2416708	132589808	72	1398											
MYEOV	26579	broad.mit.edu	37	11	69063836	69063836	+	Missense_Mutation	SNP	C	C	A	rs147884839		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:69063836C>A	ENST00000308946.3	+	3	1369	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	MYEOV_ENST00000535407.1_Missense_Mutation_p.L249I|MYEOV_ENST00000441339.2_Missense_Mutation_p.L307I	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	307								p.L307I(3)		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)		cctcctcctcctcatcatcat	0.547																																					p.L307I													MYEOV,NS,haematopoietic_neoplasm,0,3	MYEOV	42	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.C919A						.	C	ILE/LEU	0,4394		0,0,2197	34	30	32		919	-1.5	0	11	dbSNP_134	32	2,8576		0,2,4287	yes	missense	MYEOV	NM_138768.2	5	0,2,6484	AA,AC,CC		0.0233,0.0,0.0154	benign	307/314	69063836	2,12970	2197	4289	6486	SO:0001583	missense	26579	exon3			CTCCTCCTCATCA	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.919C>A	11.37:g.69063836C>A	ENSP00000308330:p.Leu307Ile	20	0		25	3	NM_138768	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.613296	0.00835	0.0	2.33E-4	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25250	1.81;1.81;1.81	0.761	-1.52	0.08637	.	.	.	.	.	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	9	0.87932	D	0	.	6.2599	0.20893	0.6536:0.3464:0.0:0.0	.	307	Q96EZ4	MYEOV_HUMAN	I	307;307;249	ENSP00000412482:L307I;ENSP00000308330:L307I;ENSP00000438100:L249I	ENSP00000308330:L307I	L	+	1	0	MYEOV	68820412	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.000000	0.00653	-2.447000	0.00545	-3.020000	0.00074	CTC	C|1.000;A|0.000		0.547	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			A	69063836	C	A	69063836	3	1	10	1	0	0	0	0	1	0	0	0	10063	681	24	3	925	3	MYEOV	11	69063836	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	66647128	69063836	65942680	73	1399											
TRPC6	7225	hgsc.bcm.edu	37	11	101343020	101343020	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:101343020G>T	ENST00000344327.3	-	8	2477	c.2053C>A	c.(2053-2055)Ctt>Att	p.L685I	TRPC6_ENST00000348423.4_Missense_Mutation_p.L569I|TRPC6_ENST00000360497.4_Missense_Mutation_p.L630I|TRPC6_ENST00000532133.1_Missense_Mutation_p.L607I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	685					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)		ACTTCAGAAAGTCCAAATATA	0.313																																					p.L685I	Colon(166;1315 1927 11094 12848 34731)	.											TRPC6,colon,carcinoma,0,1	TRPC6	0	0			c.C2053A						.						39	42	41					11																	101343020		2193	4286	6479	SO:0001583	missense	7225	exon8			CAGAAAGTCCAAA	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.2053C>A	11.37:g.101343020G>T	ENSP00000340913:p.Leu685Ile	48	0		50	2	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291735	0.80914	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98474	-4.95;-4.95;-4.45;-4.45	6.17	6.17	0.99709	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	M	0.77406	2.37	0.50467	D	0.999878	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.995	D	0.99364	1.0918	10	0.59425	D	0.04	-1.0343	20.8794	0.99867	0.0:0.0:1.0:0.0	.	630;569;685	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	I	685;607;569;630	ENSP00000340913:L685I;ENSP00000435574:L607I;ENSP00000343672:L569I;ENSP00000353687:L630I	ENSP00000340913:L685I	L	-	1	0	TRPC6	100848230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.679000	0.74513	2.941000	0.99782	0.655000	0.94253	CTT	.		0.313	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		T	101343020	G	T	101343020	3	4	10	1	0	0	0	0	1	0	0	0	16631	1029	36	3	766	3	TRPC6	11	101343020	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	32279184	101343020	33663496	74	1400											
ATM	472	hgsc.bcm.edu	37	11	108218091	108218091	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:108218091A>G	ENST00000452508.2	+	60	8859	c.8670A>G	c.(8668-8670)ctA>ctG	p.L2890L	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Splice_Site_p.L2890L|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2890	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		L -> V (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106, ECO:0000269|PubMed:9488043}.		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)	ATATAGATCTAGGTAAGTAAT	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)																											p.L2890L		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	ATM_ENST00000278616,colon,carcinoma,0,6	ATM_ENST00000278616	0	0			c.A8670G						.						75	80	78					11																	108218091		2201	4297	6498	SO:0001630	splice_region_variant	472	exon59	Familial Cancer Database	AT, Louis-Bar syndrome	AGATCTAGGTAAG	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.8671+1A>G	11.37:g.108218091A>G		30	0		37	2	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																			.		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Silent	G	108218091	A	G	108218091	5	3	10	1	0	0	0	0	0	0	1	0	1110	434	15	4	8900	4	ATM	11	108218091	Splice_Site	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	6875071	108218091	26788425	75	1401											
TECTA	7007	hgsc.bcm.edu	37	11	120979961	120979961	+	Silent	SNP	C	C	T	rs142064539		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:120979961C>T	ENST00000392793.1	+	4	511	c.240C>T	c.(238-240)agC>agT	p.S80S	TECTA_ENST00000264037.2_Silent_p.S80S			O75443	TECTA_HUMAN	tectorin alpha	80					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)		TGCTAGTGAGCCAGTTCACGC	0.463																																					p.S80S		.											TECTA,caecum,carcinoma,0,1	TECTA	0	0			c.C240T						.	C		0,4406		0,0,2203	101	91	94		240	4.4	1	11	dbSNP_134	94	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	TECTA	NM_005422.2		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		80/2156	120979961	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7007	exon3			AGTGAGCCAGTTC	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.240C>T	11.37:g.120979961C>T		40	0		48	2	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																			0.000		0.463	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	120979961	C	T	120979961	2	4	10	1	0	0	0	0	0	0	0	1	15794	738	26	3		3	TECTA	11	120979961	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	12761870	120979961	14026555	76	1402											
PKNOX2	63876	hgsc.bcm.edu	37	11	125280125	125280125	+	Nonsense_Mutation	SNP	G	G	T	rs572689602		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:125280125G>T	ENST00000298282.9	+	8	893	c.622G>T	c.(622-624)Gga>Tga	p.G208*	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.G144*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208					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)	p.G208R(1)		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)		TTCCATGTCCGGAGTCTCCAA	0.572																																					p.G208X		.											PKNOX2,larynx,carcinoma,0,1	PKNOX2	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G622T						.						124	129	127					11																	125280125		2066	4220	6286	SO:0001587	stop_gained	63876	exon8			ATGTCCGGAGTCT	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.622G>T	11.37:g.125280125G>T	ENSP00000298282:p.Gly208*	23	0		22	2	NM_022062	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Nonsense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	38	7.085612	0.98051	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	.	.	.	5.62	5.62	0.85841	.	0.092956	0.44902	D	0.000403	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-6.3419	19.2564	0.93947	0.0:0.0:1.0:0.0	.	.	.	.	X	179;179;208;144;196	.	ENSP00000298282:G208X	G	+	1	0	PKNOX2	124785335	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	2.633000	0.89246	0.655000	0.94253	GGA	.		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			T	125280125	G	T	125280125	4	4	10	1	0	0	0	0	0	1	0	0	12022	1117	39	2	640	2	PKNOX2	11	125280125	Nonsense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	4300164	125280125	9726391	77	1403											
FEZ1	9638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	125359627	125359627	+	Missense_Mutation	SNP	C	C	G	rs138856048		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:125359627C>G	ENST00000278919.3	-	2	281	c.47G>C	c.(46-48)cGa>cCa	p.R16P	FEZ1_ENST00000366139.3_Missense_Mutation_p.R16P|FEZ1_ENST00000524435.1_Missense_Mutation_p.R16P	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	16					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	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;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCAGGAGGGTCGAAGGTCCTC	0.527																																					p.R16P	Melanoma(180;509 2033 10762 15939 24711)	.											.	.	.	0			c.G47C						.						68	71	70					11																	125359627		2201	4299	6500	SO:0001583	missense	9638	exon2			GAGGGTCGAAGGT	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.47G>C	11.37:g.125359627C>G	ENSP00000278919:p.Arg16Pro	35	0		46	22	NM_022549	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038817	0.93630	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	T	0.33865	1.39	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.72625	0.978;0.959	T	0.36768	-0.9734	10	0.35671	T	0.21	-3.0637	19.2535	0.93935	0.0:1.0:0.0:0.0	.	16;16	B4DKG5;Q99689	.;FEZ1_HUMAN	P	16	ENSP00000278919:R16P	ENSP00000278919:R16P	R	-	2	0	FEZ1	124864837	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.339000	0.79282	2.646000	0.89796	0.655000	0.94253	CGA	.		0.527	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		G	125359627	C	G	125359627	3	3	10	1	0	0	0	0	1	0	0	0	5845	884	31	5	1171	5	FEZ1	11	125359627	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	79502	125359627	9646889	78	1404											
ETS1	2113	hgsc.bcm.edu	37	11	128350152	128350152	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr11:128350152G>A	ENST00000319397.6	-	6	1234	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ETS1_ENST00000345075.4_Intron|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.R353W|ETS1_ENST00000526145.2_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.R93W	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	309					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)		GCACGGTCCCGCACATAGTCC	0.597																																					p.R353W		.											ETS1_ENST00000392668,NS,carcinoma,0,2	ETS1_ENST00000392668	0	0			c.C1057T						.						128	107	114					11																	128350152		2201	4297	6498	SO:0001583	missense	2113	exon8			GGTCCCGCACATA		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.925C>T	11.37:g.128350152G>A	ENSP00000324578:p.Arg309Trp	32	0		40	2	NM_001143820	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258584	0.80246	.	.	ENSG00000134954	ENST00000535549;ENST00000392668;ENST00000319397	T;T;T	0.14391	2.51;2.51;2.51	5.19	5.19	0.71726	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.44542	1.39	0.58432	D	0.999995	D;D;D	0.89917	0.998;0.996;1.0	B;P;P	0.58820	0.342;0.753;0.846	T	0.00438	-1.1739	10	0.66056	D	0.02	.	13.6788	0.62472	0.0:0.0:0.8457:0.1543	.	309;93;353	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	W	93;353;309	ENSP00000441430:R93W;ENSP00000376436:R353W;ENSP00000324578:R309W	ENSP00000324578:R309W	R	-	1	2	ETS1	127855362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.805000	0.69143	2.400000	0.81607	0.650000	0.86243	CGG	.		0.597	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		A	128350152	G	A	128350152	3	1	10	1	0	0	0	0	1	0	0	0	5291	1086	38	1	412	1	ETS1	11	128350152	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	2990525	128350152	6656364	79	1405											
LRTM2	654429	hgsc.bcm.edu	37	12	1943445	1943445	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr12:1943445A>G	ENST00000543818.1	+	5	1513	c.671A>G	c.(670-672)gAc>gGc	p.D224G	LRTM2_ENST00000299194.1_Missense_Mutation_p.D224G|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.D224G|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000382722.5_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	224	LRRCT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGACGCTTGGACCAGCTTGCC	0.587																																					p.D224G		.											.	.	.	0			c.A671G						.						46	44	44					12																	1943445		2203	4300	6503	SO:0001583	missense	654429	exon5			GCTTGGACCAGCT	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.671A>G	12.37:g.1943445A>G	ENSP00000446278:p.Asp224Gly	37	0		92	2	NM_001039029	A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519951	0.85495	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.52295	0.67;0.67;0.67	5.35	5.35	0.76521	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58963	0.2159	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62849	-0.6767	10	0.72032	D	0.01	.	15.3345	0.74241	1.0:0.0:0.0:0.0	.	224	Q8N967	LRTM2_HUMAN	G	224	ENSP00000446278:D224G;ENSP00000299194:D224G;ENSP00000444737:D224G	ENSP00000299194:D224G	D	+	2	0	LRTM2	1813706	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.300000	0.96151	2.021000	0.59480	0.460000	0.39030	GAC	.		0.587	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			G	1943445	A	G	1943445	3	3	10	1	0	0	0	0	1	0	0	0	9080	275	10	4	681	4	LRTM2	12	1943445	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09		1943445	131908450	80	1406											
TAS2R31	259290	hgsc.bcm.edu;broad.mit.edu	37	12	11183199	11183199	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr12:11183199T>G	ENST00000390675.2	-	1	807	c.736A>C	c.(736-738)Atg>Ctg	p.M246L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	246					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						ACTGATATCATTATGGACAGA	0.403																																					p.M246L		.											.	.	.	0			c.A736C						.						195	204	201					12																	11183199		2200	4298	6498	SO:0001583	missense	259290	exon1			ATATCATTATGGA	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.736A>C	12.37:g.11183199T>G	ENSP00000375093:p.Met246Leu	117	0		96	4	NM_176885	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	4.119	0.020200	0.08006	.	.	ENSG00000256436	ENST00000390675	T	0.29917	1.55	2.62	0.014	0.14098	.	.	.	.	.	T	0.09598	0.0236	N	0.02357	-0.585	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31888	-0.9927	9	0.21014	T	0.42	.	2.5476	0.04741	0.0:0.1739:0.2905:0.5355	.	246	P59538	T2R31_HUMAN	L	246	ENSP00000375093:M246L	ENSP00000375093:M246L	M	-	1	0	TAS2R31	11074466	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-1.133000	0.03232	0.210000	0.20664	0.163000	0.16589	ATG	.		0.403	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		G	11183199	T	G	11183199	3	3	10	1	0	0	0	0	1	0	0	0	15621	1493	52	4	197	4	TAS2R31	12	11183199	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	9239754	11183199	122668696	81	1407											
SPATS2	65244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	49918486	49918486	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr12:49918486A>G	ENST00000553127.1	+	14	1646	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	SPATS2_ENST00000552918.1_Missense_Mutation_p.Y378C|SPATS2_ENST00000321898.6_Missense_Mutation_p.Y378C			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	378	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AAGAACAGCTATTCGACCAGA	0.443																																					p.Y378C		.											.	.	.	0			c.A1133G						.						173	157	162					12																	49918486		2203	4300	6503	SO:0001583	missense	65244	exon13			ACAGCTATTCGAC	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1133A>G	12.37:g.49918486A>G	ENSP00000448228:p.Tyr378Cys	22	0		16	7	NM_023071	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999191	0.74818	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.51	5.51	0.81932	.	0.110592	0.64402	D	0.000005	T	0.77678	0.4166	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80294	-0.1443	9	0.87932	D	0	-12.2493	13.8869	0.63714	1.0:0.0:0.0:0.0	.	378	Q86XZ4	SPAS2_HUMAN	C	378	.	ENSP00000326841:Y378C	Y	+	2	0	SPATS2	48204753	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.133000	0.71682	2.231000	0.72958	0.460000	0.39030	TAT	.		0.443	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		G	49918486	A	G	49918486	3	3	10	1	0	0	0	0	1	0	0	0	15066	449	16	4	1175	4	SPATS2	12	49918486	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	38735287	49918486	83933409	82	1408											
NAV3	89795	hgsc.bcm.edu	37	12	78225326	78225326	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr12:78225326C>A	ENST00000397909.2	+	1	258	c.85C>A	c.(85-87)Ctt>Att	p.L29I	NAV3_ENST00000536525.2_Missense_Mutation_p.L29I|NAV3_ENST00000266692.7_Missense_Mutation_p.L29I|NAV3_ENST00000228327.6_Missense_Mutation_p.L29I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	29						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						GATACCAAATCTTGGCACTAC	0.463										HNSCC(70;0.22)																											p.L29I		.											NAV3,NS,carcinoma,0,1	NAV3	0	0			c.C85A						.						140	135	136					12																	78225326		1917	4134	6051	SO:0001583	missense	89795	exon1			CCAAATCTTGGCA	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.85C>A	12.37:g.78225326C>A	ENSP00000381007:p.Leu29Ile	32	0		46	2	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	16.52	3.145544	0.57044	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.59083	0.29;1.79;1.8;1.79;1.69	5.54	4.65	0.58169	Calponin homology domain (1);	.	.	.	.	T	0.39036	0.1063	N	0.14661	0.345	0.80722	D	1	B;B	0.18741	0.018;0.03	B;B	0.20184	0.012;0.028	T	0.18335	-1.0340	9	0.33141	T	0.24	-4.6124	10.2192	0.43188	0.0:0.7935:0.1349:0.0716	.	29;29	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	29	ENSP00000446628:L29I;ENSP00000446132:L29I;ENSP00000381007:L29I;ENSP00000228327:L29I;ENSP00000266692:L29I	ENSP00000228327:L29I	L	+	1	0	NAV3	76749457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.090000	0.41682	1.352000	0.45808	0.655000	0.94253	CTT	.		0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78225326	C	A	78225326	3	1	10	1	0	0	0	0	1	0	0	0	10223	913	32	3	87	3	NAV3	12	78225326	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	28306840	78225326	55626569	83	1409											
ATP7B	540	hgsc.bcm.edu	37	13	52549277	52549277	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr13:52549277G>T	ENST00000242839.4	-	2	235	c.79C>A	c.(79-81)Cgt>Agt	p.R27S	ATP7B_ENST00000400366.3_Missense_Mutation_p.R27S|ATP7B_ENST00000400370.3_Missense_Mutation_p.R27S|ATP7B_ENST00000542656.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.R27S|ATP7B_ENST00000418097.2_Missense_Mutation_p.R27S|ATP7B_ENST00000448424.2_Missense_Mutation_p.R27S|ATP7B_ENST00000482841.1_5'Flank	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	27					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)	TCCCAGGCACGGGTAGGCAAA	0.428									Wilson disease																												p.R27S		.											ATP7B,NS,carcinoma,0,1	ATP7B	0	0			c.C79A						.						83	80	81					13																	52549277		1871	4103	5974	SO:0001583	missense	540	exon2	Familial Cancer Database		AGGCACGGGTAGG	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.79C>A	13.37:g.52549277G>T	ENSP00000242839:p.Arg27Ser	31	0		31	2	NM_001243182	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	g	10.23	1.293382	0.23564	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.97089	-3.8;-3.84;-3.93;-3.75;-4.24;-3.81	5.63	2.54	0.30619	.	0.623354	0.17138	N	0.185573	D	0.89880	0.6843	N	0.14661	0.345	0.19300	N	0.999978	B;B;B;B;B;B;B	0.30605	0.005;0.006;0.103;0.256;0.287;0.095;0.004	B;B;B;B;B;B;B	0.27715	0.006;0.006;0.021;0.082;0.05;0.074;0.003	T	0.80999	-0.1131	10	0.09843	T	0.71	-0.0067	7.4889	0.27449	0.353:0.0:0.647:0.0	.	27;27;27;27;27;27;27	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	S	27	ENSP00000242839:R27S;ENSP00000383217:R27S;ENSP00000342559:R27S;ENSP00000416738:R27S;ENSP00000383221:R27S;ENSP00000393343:R27S	ENSP00000242839:R27S	R	-	1	0	ATP7B	51447278	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	1.390000	0.34464	0.763000	0.33175	-0.779000	0.03376	CGT	.		0.428	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		T	52549277	G	T	52549277	3	4	10	1	0	0	0	0	1	0	0	0	1192	1116	39	2	4398	2	ATP7B	13	52549277	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09		52549277	62620601	84	1410											
RBM26	64062	hgsc.bcm.edu	37	13	79918911	79918911	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr13:79918911C>T	ENST00000438737.2	-	15	2517	c.2077G>A	c.(2077-2079)Ggc>Agc	p.G693S	RBM26_ENST00000267229.7_Missense_Mutation_p.G666S|RBM26_ENST00000438724.1_Missense_Mutation_p.G669S			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	693					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G693S(1)|p.G666S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTGTTAGGCCAGTAGATGTA	0.343																																					p.G666S		.											RBM26_ENST00000327303,trunk,malignant_melanoma,0,2	RBM26_ENST00000327303	0	2	Substitution - Missense(2)	skin(2)	c.G1996A						.						88	84	85					13																	79918911		2202	4300	6502	SO:0001583	missense	64062	exon14			TTAGGCCAGTAGA	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2077G>A	13.37:g.79918911C>T	ENSP00000387531:p.Gly693Ser	66	0		41	3	NM_022118	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.453027	0.84209	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.93133	-3.17;-3.17	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.98;0.998;0.98	D	0.94648	0.7836	9	.	.	.	-1.6352	17.9591	0.89079	0.0:1.0:0.0:0.0	.	50;669;693;666	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	S	666;694;693;669	ENSP00000267229:G666S;ENSP00000390222:G669S	.	G	-	1	0	RBM26	78816912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.875000	0.75551	2.235000	0.73313	0.585000	0.79938	GGC	.		0.343	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		T	79918911	C	T	79918911	3	4	10	1	0	0	0	0	1	0	0	0	13171	594	21	3	978	3	RBM26	13	79918911	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	27369634	79918911	35250967	85	1411											
OR4Q3	441669	hgsc.bcm.edu	37	14	20216038	20216038	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr14:20216038G>T	ENST00000331723.1	+	1	452	c.452G>T	c.(451-453)tGt>tTt	p.C151F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, 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.C151Y(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTGCTGGTGTGGGGGTTTT	0.498																																					p.C151F		.											OR4Q3,NS,carcinoma,0,1	OR4Q3	0	1	Substitution - Missense(1)	lung(1)	c.G452T						.						89	91	91					14																	20216038		2203	4298	6501	SO:0001583	missense	441669	exon1			GCTGGTGTGGGGG	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.452G>T	14.37:g.20216038G>T	ENSP00000330049:p.Cys151Phe	78	0		71	3	NM_172194	Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	7.111	0.575940	0.13623	.	.	ENSG00000182652	ENST00000331723	T	0.35421	1.31	4.09	0.988	0.19796	GPCR, rhodopsin-like superfamily (1);	0.403439	0.17772	U	0.162549	T	0.12135	0.0295	N	0.01438	-0.865	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.20706	-1.0267	10	0.49607	T	0.09	.	6.2602	0.20895	0.0:0.3238:0.3622:0.3139	.	151	Q8NH05	OR4Q3_HUMAN	F	151	ENSP00000330049:C151F	ENSP00000330049:C151F	C	+	2	0	OR4Q3	19285878	0.000000	0.05858	1.000000	0.80357	0.793000	0.44817	0.935000	0.28924	0.891000	0.36235	0.406000	0.27484	TGT	.		0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			T	20216038	G	T	20216038	3	4	10	1	0	0	0	0	1	0	0	0	11120	1377	48	3	454	3	OR4Q3	14	20216038	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09		20216038	87133502	86	1412											
ACIN1	22985	hgsc.bcm.edu	37	14	23540342	23540342	+	Intron	SNP	G	G	T	rs111237085		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr14:23540342G>T	ENST00000262710.1	-	9	2625				ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000357481.2_Missense_Mutation_p.S5R|ACIN1_ENST00000557515.1_Missense_Mutation_p.S5R|ACIN1_ENST00000555352.1_Intron|ACIN1_ENST00000555053.1_Intron|ACIN1_ENST00000397341.3_Missense_Mutation_p.S5R|ACIN1_ENST00000338631.6_Intron|ACIN1_ENST00000605057.1_Intron	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1						apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACCCTTCTTTGCTTTCTGATA	0.413																																					p.S5R		.											.	.	.	0			c.C15A						.						244	227	232					14																	23540342		692	1591	2283	SO:0001627	intron_variant	22985	exon2			TTCTTTGCTTTCT	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2298-1516C>A	14.37:g.23540342G>T		62	0		77	3	NM_001164817	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.773229	0.49680	.	.	ENSG00000100813	ENST00000557515;ENST00000357481;ENST00000397341;ENST00000555566	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.67439	0.2893	.	.	.	0.80722	D	1	P	0.42518	0.782	P	0.45538	0.484	T	0.68652	-0.5352	7	0.66056	D	0.02	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	5	Q9UKV3-3	.	R	5	.	ENSP00000350073:S5R	S	-	3	2	ACIN1	22610182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.159000	0.64923	2.941000	0.99782	0.655000	0.94253	AGC	.		0.413	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23540342	G	T	23540342	1	4	10	0	1	0	0	0	0	0	0	0	142	1310	46	3		3	ACIN1	14	23540342	Intron	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	3324304	23540342	83809198	87	1413											
DLK1	8788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	101201136	101201136	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr14:101201136A>C	ENST00000341267.4	+	5	1297	c.1055A>C	c.(1054-1056)cAg>cCg	p.Q352P	RP11-566J3.4_ENST00000608876.1_lincRNA|DLK1_ENST00000331224.6_Missense_Mutation_p.Q279P	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	352					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)				CTGCTGCTTCAGTACAACAGC	0.567																																					p.Q352P		.											.	.	.	0			c.A1055C						.						105	97	100					14																	101201136		2203	4300	6503	SO:0001583	missense	8788	exon5			TGCTTCAGTACAA	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.1055A>C	14.37:g.101201136A>C	ENSP00000340292:p.Gln352Pro	25	0		17	9	NM_003836	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.714389	0.30413	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.87809	-2.3;-2.21	4.61	2.04	0.26737	.	0.715730	0.12062	N	0.503092	T	0.75796	0.3898	N	0.08118	0	0.26840	N	0.968392	P;P	0.47604	0.898;0.734	P;B	0.47075	0.536;0.185	T	0.66324	-0.5952	10	0.35671	T	0.21	.	6.4108	0.21690	0.7405:0.1619:0.0976:0.0	.	279;352	P80370-2;P80370	.;DLK1_HUMAN	P	352;279	ENSP00000340292:Q352P;ENSP00000331081:Q279P	ENSP00000331081:Q279P	Q	+	2	0	DLK1	100270889	0.373000	0.25073	0.997000	0.53966	0.223000	0.24884	1.039000	0.30266	1.718000	0.51419	0.402000	0.26972	CAG	.		0.567	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			C	101201136	A	C	101201136	3	2	10	1	0	0	0	0	1	0	0	0	4578	188	7	4	1073	4	DLK1	14	101201136	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	77660794	101201136	6148404	88	1414											
GABRB3	2562	broad.mit.edu	37	15	26793037	26793037	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr15:26793037A>C	ENST00000311550.5	-	9	1436	c.1325T>G	c.(1324-1326)cTa>cGa	p.L442R	GABRB3_ENST00000299267.4_Missense_Mutation_p.L442R|GABRB3_ENST00000541819.2_Missense_Mutation_p.L498R|GABRB3_ENST00000400188.3_Missense_Mutation_p.L371R|GABRB3_ENST00000545868.1_Missense_Mutation_p.L357R	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	442					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)	CACATCGGTTAGATCAGGTAT	0.463																																					p.L442R													.	GABRB3	338	0			c.T1325G						.						115	96	102					15																	26793037		2203	4300	6503	SO:0001583	missense	2562	exon9			TCGGTTAGATCAG		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.1325T>G	15.37:g.26793037A>C	ENSP00000308725:p.Leu442Arg	27	0		23	3	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854920	0.71719	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90779	0.7105	L	0.58354	1.805	0.80722	D	1	D;D;P	0.65815	0.995;0.99;0.789	D;P;B	0.72982	0.979;0.906;0.411	D	0.91528	0.5240	10	0.87932	D	0	.	15.7393	0.77876	1.0:0.0:0.0:0.0	.	498;442;442	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	R	442;498;442;371;357	ENSP00000308725:L442R;ENSP00000442408:L498R;ENSP00000299267:L442R;ENSP00000383049:L371R;ENSP00000439169:L357R	ENSP00000299267:L442R	L	-	2	0	GABRB3	24344130	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	9.204000	0.95041	2.308000	0.77769	0.533000	0.62120	CTA	.		0.463	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			C	26793037	A	C	26793037	3	2	10	1	0	0	0	0	1	0	0	0	6192	420	15	4	100	4	GABRB3	15	26793037	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09		26793037	75738355	89	1415											
TJP1	7082	hgsc.bcm.edu;bcgsc.ca	37	15	30011982	30011982	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr15:30011982T>G	ENST00000346128.6	-	20	3476	c.3002A>C	c.(3001-3003)aAg>aCg	p.K1001T	TJP1_ENST00000400011.2_Intron|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000356107.6_Splice_Site_p.K1001T	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1001					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)		CACAGGTACCTTTGTTGGATC	0.418																																					p.K1001T	Melanoma(77;681 1843 6309 6570)	.											.	.	.	0			c.A3002C						.						179	177	178					15																	30011982		2037	4185	6222	SO:0001630	splice_region_variant	7082	exon20			GGTACCTTTGTTG		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.3003+1A>C	15.37:g.30011982T>G		41	0		50	4	NM_003257	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307992	0.60305	.	.	ENSG00000104067	ENST00000346128;ENST00000545208	T	0.08896	3.04	6.02	6.02	0.97574	.	0.311754	0.39475	N	0.001342	T	0.10895	0.0266	L	0.36672	1.1	0.80722	D	1	P;P	0.48089	0.905;0.905	B;B	0.43623	0.425;0.425	T	0.01688	-1.1295	10	0.56958	D	0.05	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	994;1001	A9CQZ8;Q07157	.;ZO1_HUMAN	T	1001	ENSP00000281537:K1001T	ENSP00000281537:K1001T	K	-	2	0	TJP1	27799274	1.000000	0.71417	0.978000	0.43139	0.892000	0.51952	6.383000	0.73172	2.311000	0.77944	0.533000	0.62120	AAG	.		0.418	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	Missense_Mutation	G	30011982	T	G	30011982	5	3	10	1	0	0	0	0	0	0	1	0	15976	1623	56	4	2280	4	TJP1	15	30011982	Splice_Site	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	3218945	30011982	72519410	90	1416											
ACTC1	70	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	35082738	35082738	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr15:35082738G>A	ENST00000290378.4	-	7	1664	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	337					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAGTATTTACGCTCAGGGGGA	0.483																																					p.R337C		.											.	.	.	0			c.C1009T						.						75	79	78					15																	35082738		2201	4298	6499	SO:0001583	missense	70	exon7			ATTTACGCTCAGG	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.1009C>T	15.37:g.35082738G>A	ENSP00000290378:p.Arg337Cys	61	0		49	24	NM_005159	P04270	Missense_Mutation	SNP	ENST00000290378.4	37	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917794	0.33815	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.96365	-3.99	4.77	4.77	0.60923	.	0.000000	0.53938	U	0.000043	D	0.99086	0.9686	H	0.99929	4.97	0.80722	D	1	D	0.65815	0.995	D	0.68483	0.958	D	0.98254	1.0495	10	0.87932	D	0	.	14.1224	0.65198	0.0:0.0:0.8493:0.1506	.	337	P68032	ACTC_HUMAN	C	337;302	ENSP00000290378:R337C	ENSP00000290378:R337C	R	-	1	0	ACTC1	32870030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.942000	0.63547	2.624000	0.88883	0.563000	0.77884	CGT	.		0.483	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		A	35082738	G	A	35082738	3	1	10	1	0	0	0	0	1	0	0	0	195	1087	38	1	128	1	ACTC1	15	35082738	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	5070756	35082738	67448654	91	1417											
ZFYVE19	84936	ucsc.edu	37	15	41099910	41099910	+	Silent	SNP	A	A	G	rs62018606		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr15:41099910A>G	ENST00000355341.4	+	1	624	c.123A>G	c.(121-123)gcA>gcG	p.A41A	ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000299173.10_Silent_p.A41A|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000563530.1_3'UTR|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000564258.1_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	41					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)		Ggggcggggcagggcagggaa	0.716																																					p.A41A													.	ZFYVE19	31	0			c.A123G						.						16	22	20					15																	41099910		1992	4147	6139	SO:0001819	synonymous_variant	84936	exon1			CGGGGCAGGGCAG	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.123A>G	15.37:g.41099910A>G		12	0		21	7	NM_001077268	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																			.		0.716	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		G	41099910	A	G	41099910	2	3	10	1	0	0	0	0	0	0	0	1	17713	175	7	4		4	ZFYVE19	15	41099910	Silent	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	6017172	41099910	61431482	92	1418											
UBR1	197131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	43244513	43244513	+	Missense_Mutation	SNP	C	C	T	rs550798440		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr15:43244513C>T	ENST00000290650.4	-	45	5047	c.4969G>A	c.(4969-4971)Gca>Aca	p.A1657T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1657					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)		CAGTGAAGTGCGTGAAAAATG	0.473													C|||	1	0.000199681	0	0	5008	,	,		17545	0		0	False		,,,				2504	0.001				p.A1657T		.											.	.	.	0			c.G4969A						.						133	136	135					15																	43244513		2203	4299	6502	SO:0001583	missense	197131	exon45			GAAGTGCGTGAAA		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.4969G>A	15.37:g.43244513C>T	ENSP00000290650:p.Ala1657Thr	31	0		36	11	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720505	0.48728	.	.	ENSG00000159459	ENST00000290650	T	0.52983	0.64	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	N	0.17564	0.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46400	-0.9194	10	0.17832	T	0.49	-31.1538	17.8752	0.88823	0.0:1.0:0.0:0.0	.	1657	Q8IWV7	UBR1_HUMAN	T	1657	ENSP00000290650:A1657T	ENSP00000290650:A1657T	A	-	1	0	UBR1	41031805	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.806000	0.62569	2.432000	0.82394	0.467000	0.42956	GCA	.		0.473	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		T	43244513	C	T	43244513	3	4	10	1	0	0	0	0	1	0	0	0	16950	768	27	1	292	1	UBR1	15	43244513	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	2144603	43244513	59286879	93	1419											
UNC13C	440279	hgsc.bcm.edu	37	15	54592537	54592537	+	Missense_Mutation	SNP	C	C	T	rs370227736		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr15:54592537C>T	ENST00000260323.11	+	12	4234	c.4234C>T	c.(4234-4236)Cgt>Tgt	p.R1412C	UNC13C_ENST00000545554.1_Missense_Mutation_p.R1412C|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1410C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1412					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)	p.R1412C(2)		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)		ATTTGCTATGCGTTATGGAAT	0.353																																					p.R1412C		.											UNC13C_ENST00000260323,colon,carcinoma,0,2	UNC13C_ENST00000260323	0	2	Substitution - Missense(2)	large_intestine(2)	c.C4234T						.	C	CYS/ARG	0,3684		0,0,1842	100	92	95		4234	5.6	1	15		95	1,8251		0,1,4125	no	missense	UNC13C	NM_001080534.1	180	0,1,5967	TT,TC,CC		0.0121,0.0,0.0084	probably-damaging	1412/2215	54592537	1,11935	1842	4126	5968	SO:0001583	missense	440279	exon11			GCTATGCGTTATG	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.4234C>T	15.37:g.54592537C>T	ENSP00000260323:p.Arg1412Cys	82	0		65	3	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256026	0.80246	0.0	1.21E-4	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83075	-1.67;-1.68;-1.67	5.61	5.61	0.85477	.	0.052585	0.64402	D	0.000001	D	0.92011	0.7469	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.92727	0.6196	10	0.87932	D	0	.	18.6257	0.91336	0.0:1.0:0.0:0.0	.	1412;1412	F5H090;Q8NB66	.;UN13C_HUMAN	C	1412;1412;1410	ENSP00000260323:R1412C;ENSP00000438156:R1412C;ENSP00000442569:R1410C	ENSP00000260323:R1412C	R	+	1	0	UNC13C	52379829	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.110000	0.71535	2.640000	0.89533	0.655000	0.94253	CGT	.		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54592537	C	T	54592537	3	4	10	1	0	0	0	0	1	0	0	0	17035	768	27	1	4276	1	UNC13C	15	54592537	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	11348024	54592537	47938855	94	1420											
KIAA1199	57214	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	81212524	81212524	+	Silent	SNP	T	T	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr15:81212524T>A	ENST00000394685.3	+	15	2306	c.1887T>A	c.(1885-1887)ctT>ctA	p.L629L	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.L629L|KIAA1199_ENST00000356249.5_Silent_p.L629L			Q8WUJ3	CEMIP_HUMAN		629					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						ACCACTGTCTTGGCCTCCTTG	0.562																																					p.L629L		.											.	.	.	0			c.T1887A						.						186	124	145					15																	81212524		2203	4300	6503	SO:0001819	synonymous_variant	57214	exon14			CTGTCTTGGCCTC																												ENST00000394685.3:c.1887T>A	15.37:g.81212524T>A		39	0		49	4	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			.		0.562	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			A	81212524	T	A	81212524	2	1	10	1	0	0	0	0	0	0	0	1	8240	1799	63	5		5	KIAA1199	15	81212524	Silent	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	26619987	81212524	21318868	95	1421											
IL32	9235	hgsc.bcm.edu	37	16	3119299	3119300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr16:3119299_3119300insC	ENST00000534507.1	+	6	859_860	c.648_649insC	c.(649-651)gggfs	p.G217fs	IL32_ENST00000552664.1_Frame_Shift_Ins_p.G171fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.G171fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.G171fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.G162fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.G171fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.G208fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.G151fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.G171fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.G114fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.G217fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.G195fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.G171fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.G171fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.G162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.G151fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.G131fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.G114fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.G114fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.G151fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.G161fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.G217fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000444393.3_Frame_Shift_Ins_p.G171fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.G171fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.G151fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.G171fs			P24001	IL32_HUMAN	interleukin 32	217					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.D172fs*12(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GAGCCCCACGGGGGGACAAGGA	0.574																																					p.R170fs		.											.	.	.	1	Insertion - Frameshift(1)	pancreas(1)	c.510_511insC						.																																			SO:0001589	frameshift_variant	9235	exon7			CCCACGGGGGGAC	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119299_3119300insC	ENSP00000431775:p.Gly217fs	81	0		103	21	NM_004221	A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37																																																																																				.		0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		C	3119300	-	C	3119299	7	5	10	1	0	1	1	0	0	0	0	0	7719	1219	43	0	532	0	IL32	16	3119299	Frame_Shift_Ins	INS	-	TCGA-W5-AA2I-01A-32D-A417-09		3119299	87235454	96	1422											
TRAP1	10131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	3729751	3729751	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr16:3729751T>C	ENST00000246957.5	-	5	600	c.512A>G	c.(511-513)aAc>aGc	p.N171S	TRAP1_ENST00000575671.1_5'Flank|TRAP1_ENST00000573872.1_5'Flank|TRAP1_ENST00000538171.1_Missense_Mutation_p.N118S	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	171					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)				CGTCCCCAGGTTGGACACCAG	0.627																																					p.N171S		.											.	.	.	0			c.A512G						.						77	63	68					16																	3729751		2197	4300	6497	SO:0001583	missense	10131	exon5			CCCAGGTTGGACA	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.512A>G	16.37:g.3729751T>C	ENSP00000246957:p.Asn171Ser	22	0		32	11	NM_016292	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.558944	0.65538	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.77358	-1.09;-1.09	5.26	5.26	0.73747	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.85373	2.75	0.80722	D	1	P;P	0.51147	0.929;0.942	P;P	0.62382	0.84;0.901	D	0.89563	0.3808	10	0.62326	D	0.03	-61.9987	14.6366	0.68694	0.0:0.0:0.0:1.0	.	118;171	F5H897;Q12931	.;TRAP1_HUMAN	S	171;118	ENSP00000246957:N171S;ENSP00000442070:N118S	ENSP00000246957:N171S	N	-	2	0	TRAP1	3669752	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	7.402000	0.79972	2.109000	0.64355	0.533000	0.62120	AAC	.		0.627	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		C	3729751	T	C	3729751	3	2	10	1	0	0	0	0	1	0	0	0	16503	1725	60	4	1658	4	TRAP1	16	3729751	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	610452	3729751	86625002	97	1423											
RBL2	5934	hgsc.bcm.edu	37	16	53513070	53513070	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr16:53513070C>A	ENST00000262133.6	+	18	2845	c.2708C>A	c.(2707-2709)aCa>aAa	p.T903K	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	903	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)	p.T903K(1)		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						TGCCAGGTCACAAAAGAAGAT	0.458																																					p.T903K		.											RBL2,NS,carcinoma,0,1	RBL2	0	1	Substitution - Missense(1)	lung(1)	c.C2708A						.						99	92	95					16																	53513070		2198	4300	6498	SO:0001583	missense	5934	exon18			AGGTCACAAAAGA	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.2708C>A	16.37:g.53513070C>A	ENSP00000262133:p.Thr903Lys	21	0		22	2	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101878	0.94245	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.89617	-2.54	5.05	5.05	0.67936	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	L	0.31526	0.94	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.68621	0.959;0.891	D	0.92114	0.5698	10	0.87932	D	0	-13.3215	16.1796	0.81890	0.0:1.0:0.0:0.0	.	613;903	E9PG04;Q08999	.;RBL2_HUMAN	K	903;613	ENSP00000262133:T903K	ENSP00000262133:T903K	T	+	2	0	RBL2	52070571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.932000	0.75869	2.338000	0.79540	0.650000	0.86243	ACA	.		0.458	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		A	53513070	C	A	53513070	3	1	10	1	0	0	0	0	1	0	0	0	13155	478	17	3	2778	3	RBL2	16	53513070	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	49783319	53513070	36841683	98	1424											
SLC16A11	162515	ucsc.edu;bcgsc.ca	37	17	6946310	6946310	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:6946310G>T	ENST00000308009.1	-	2	694	c.357C>A	c.(355-357)ttC>ttA	p.F119L	SLC16A11_ENST00000447225.1_Missense_Mutation_p.F95L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	119					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CCGAGAAGACGAAGCCCAGCG	0.697																																					p.F119L													.	SLC16A11	25	0			c.C357A						.						22	26	25					17																	6946310		2196	4296	6492	SO:0001583	missense	162515	exon2			GAAGACGAAGCCC	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.357C>A	17.37:g.6946310G>T	ENSP00000310490:p.Phe119Leu	47	0		44	4	NM_153357		Missense_Mutation	SNP	ENST00000308009.1	37	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607018	0.28623	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.35605	1.3;1.3	5.18	0.763	0.18459	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.116521	0.64402	N	0.000016	T	0.13543	0.0328	N	0.10809	0.05	0.25579	N	0.986811	B	0.06786	0.001	B	0.11329	0.006	T	0.33650	-0.9860	10	0.02654	T	1	.	6.6026	0.22708	0.1713:0.4569:0.3718:0.0	.	119	Q8NCK7	MOT11_HUMAN	L	119;95	ENSP00000310490:F119L;ENSP00000394449:F95L	ENSP00000310490:F119L	F	-	3	2	SLC16A11	6887034	0.023000	0.18921	0.998000	0.56505	0.965000	0.64279	0.057000	0.14279	0.042000	0.15717	0.555000	0.69702	TTC	.		0.697	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		T	6946310	G	T	6946310	3	4	10	1	0	0	0	0	1	0	0	0	14449	1049	37	2	1070	2	SLC16A11	17	6946310	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09		6946310	74248900	99	1425											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578509	7578509	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:7578509A>G	ENST00000269305.4	-	5	610	c.421T>C	c.(421-423)Tgc>Cgc	p.C141R	TP53_ENST00000420246.2_Missense_Mutation_p.C141R|TP53_ENST00000455263.2_Missense_Mutation_p.C141R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141R|TP53_ENST00000413465.2_Missense_Mutation_p.C141R|TP53_ENST00000359597.4_Missense_Mutation_p.C141R	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(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)	TGCACAGGGCAGGTCTTGGCC	0.567		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.C141R	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,NS,carcinoma,+1,28	TP53_ENST00000545858	+1	47	Substitution - Missense(19)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Complex - frameshift(1)|Complex - deletion inframe(1)	ovary(11)|large_intestine(7)|breast(7)|central_nervous_system(5)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|prostate(2)|biliary_tract(1)|lung(1)|oesophagus(1)	c.T421C						.						56	55	56					17																	7578509		2203	4300	6503	SO:0001583	missense	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;	CAGGGCAGGTCTT	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.421T>C	17.37:g.7578509A>G	ENSP00000269305:p.Cys141Arg	13	0		13	8	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	13.32	2.203306	0.38905	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99806	0.9916	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;1.0;0.999;1.0;1.0	D	0.97577	1.0108	10	0.87932	D	0	-26.1094	9.8103	0.40820	0.918:0.0:0.082:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141R;ENSP00000352610:C141R;ENSP00000269305:C141R;ENSP00000398846:C141R;ENSP00000391127:C141R;ENSP00000391478:C141R;ENSP00000425104:C9R;ENSP00000423862:C48R;ENSP00000424104:C141R	ENSP00000269305:C141R	C	-	1	0	TP53	7519234	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	5.164000	0.64954	1.020000	0.39573	-0.256000	0.11100	TGC	.		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578509	A	G	7578509	3	3	10	1	0	0	0	0	1	0	0	0	16429	188	7	4	877	4	TP53	17	7578509	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	632199	7578509	73616701	100	1426											
LRRC48	83450	broad.mit.edu	37	17	17907739	17907739	+	Silent	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:17907739C>T	ENST00000399187.1	+	10	1280	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	LRRC48_ENST00000411504.2_Silent_p.C354C|LRRC48_ENST00000313838.8_Silent_p.C354C|LRRC48_ENST00000584166.1_Silent_p.C354C|LRRC48_ENST00000399182.1_Silent_p.C354C	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	354						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCCTAGAATGCAGTGCTGACA	0.498																																					p.C354C													.	LRRC48	49	0			c.C1062T						.						102	103	102					17																	17907739		2127	4251	6378	SO:0001819	synonymous_variant	83450	exon10			AGAATGCAGTGCT	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1062C>T	17.37:g.17907739C>T		54	0		42	3	NM_031294	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	ENST00000399187.1	37	CCDS45622.1																																																																																			.		0.498	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		T	17907739	C	T	17907739	2	4	10	1	0	0	0	0	0	0	0	1	9040	718	25	3		3	LRRC48	17	17907739	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	10329230	17907739	63287471	101	1427											
TRAF4	9618	broad.mit.edu	37	17	27076180	27076180	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:27076180T>G	ENST00000262395.5	+	7	1127	c.998T>G	c.(997-999)tTc>tGc	p.F333C	TRAF4_ENST00000444415.3_Missense_Mutation_p.F333C|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Intron|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	333	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTTGAGTGCTTCAGCCCAGCC	0.552																																					p.F333C													.	TRAF4	20	0			c.T998G						.						77	74	75					17																	27076180		2203	4300	6503	SO:0001583	missense	9618	exon7			AGTGCTTCAGCCC	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.998T>G	17.37:g.27076180T>G	ENSP00000262395:p.Phe333Cys	41	0		51	3	NM_004295	O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964241	0.34659	.	.	ENSG00000076604	ENST00000262395;ENST00000444415	T;T	0.44881	0.91;0.91	5.69	5.69	0.88448	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.54965	1.715	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.18398	-1.0338	10	0.36615	T	0.2	.	15.1284	0.72500	0.0:0.0:0.0:1.0	.	333	Q9BUZ4	TRAF4_HUMAN	C	333	ENSP00000262395:F333C;ENSP00000438154:F333C	ENSP00000262395:F333C	F	+	2	0	TRAF4	24100307	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.402000	0.79972	2.161000	0.67846	0.533000	0.62120	TTC	.		0.552	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		G	27076180	T	G	27076180	3	3	10	1	0	0	0	0	1	0	0	0	16491	1783	62	4	1024	4	TRAF4	17	27076180	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	9168441	27076180	54119030	102	1428											
CPD	1362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	28772983	28772983	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:28772983T>C	ENST00000225719.4	+	12	2894	c.2818T>C	c.(2818-2820)Tca>Cca	p.S940P	CPD_ENST00000543464.2_Missense_Mutation_p.S693P	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	940	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAAAGACTTATCAGAGTTTCT	0.373																																					p.S940P		.											.	.	.	0			c.T2818C						.						83	83	83					17																	28772983		2203	4300	6503	SO:0001583	missense	1362	exon12			GACTTATCAGAGT	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2818T>C	17.37:g.28772983T>C	ENSP00000225719:p.Ser940Pro	54	0		43	16	NM_001304	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.499030	0.44455	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03358	3.96;3.96	5.33	5.33	0.75918	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.07693	-1.0759	10	0.27785	T	0.31	.	14.7845	0.69790	0.0:0.0:0.0:1.0	.	693;940	F5GZH6;O75976	.;CBPD_HUMAN	P	940;693	ENSP00000225719:S940P;ENSP00000444443:S693P	ENSP00000225719:S940P	S	+	1	0	CPD	25797109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.148000	0.64857	2.157000	0.67596	0.533000	0.62120	TCA	.		0.373	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		C	28772983	T	C	28772983	3	2	10	1	0	0	0	0	1	0	0	0	3805	1435	50	4	2864	4	CPD	17	28772983	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	1696803	28772983	52422227	103	1429											
KLHL11	55175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	40010293	40010293	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:40010293T>C	ENST00000319121.3	-	2	1886	c.1826A>G	c.(1825-1827)gAt>gGt	p.D609G	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	609										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GAAGACATCATCTTTGTAATA	0.433																																					p.D609G		.											.	.	.	0			c.A1826G						.						93	93	93					17																	40010293		2203	4300	6503	SO:0001583	missense	55175	exon2			ACATCATCTTTGT		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1826A>G	17.37:g.40010293T>C	ENSP00000314608:p.Asp609Gly	58	0		46	21	NM_018143		Missense_Mutation	SNP	ENST00000319121.3	37	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637329	0.29157	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.72835	-0.69	5.59	5.59	0.84812	Kelch-type beta propeller (1);	0.055070	0.64402	D	0.000001	T	0.53562	0.1804	N	0.19112	0.55	0.80722	D	1	B	0.18610	0.029	B	0.21151	0.033	T	0.52003	-0.8633	10	0.02654	T	1	1.4316	16.0549	0.80794	0.0:0.0:0.0:1.0	.	609	Q9NVR0	KLH11_HUMAN	G	609;472	ENSP00000314608:D609G	ENSP00000314608:D609G	D	-	2	0	KLHL11	37263819	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.559000	0.82265	2.246000	0.74042	0.528000	0.53228	GAT	.		0.433	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		C	40010293	T	C	40010293	3	2	10	1	0	0	0	0	1	0	0	0	8394	1435	50	4	304	4	KLHL11	17	40010293	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	11237310	40010293	41184917	104	1430											
HSF5	124535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	56540279	56540279	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:56540279G>A	ENST00000323777.3	-	4	1515	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	469					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTTTCAACAGGCTGAGCTGT	0.443																																					p.P469L		.											.	.	.	0			c.C1406T						.						250	220	230					17																	56540279		2203	4300	6503	SO:0001583	missense	124535	exon4			TCAACAGGCTGAG	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1406C>T	17.37:g.56540279G>A	ENSP00000313243:p.Pro469Leu	35	0		49	22	NM_001080439	Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859525	0.71834	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.69175	-0.38	5.57	5.57	0.84162	.	0.099262	0.45126	D	0.000397	T	0.68513	0.3009	N	0.24115	0.695	0.46336	D	0.998995	D	0.69078	0.997	P	0.58520	0.84	T	0.72724	-0.4207	10	0.87932	D	0	.	16.2733	0.82630	0.0:0.0:1.0:0.0	.	469	Q4G112	HSF5_HUMAN	L	369;469	ENSP00000313243:P469L	ENSP00000313243:P469L	P	-	2	0	HSF5	53895278	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.434000	0.59935	2.632000	0.89209	0.650000	0.86243	CCT	.		0.443	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		A	56540279	G	A	56540279	3	1	10	1	0	0	0	0	1	0	0	0	7426	1000	35	3	396	3	HSF5	17	56540279	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	16529986	56540279	24654931	105	1431											
TLK2	11011	broad.mit.edu	37	17	60598179	60598179	+	Missense_Mutation	SNP	G	G	A	rs200158456		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:60598179G>A	ENST00000326270.9	+	3	395	c.127G>A	c.(127-129)Gga>Aga	p.G43R	TLK2_ENST00000343388.7_Missense_Mutation_p.G43R|TLK2_ENST00000542523.1_Missense_Mutation_p.G43R|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000346027.5_Missense_Mutation_p.G43R	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	43					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G43R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GTGCAGCGTCGGATCCTTGAG	0.393																																					p.G43R													TLK2_ENST00000346027,NS,carcinoma,0,1	TLK2	223	1	Substitution - Missense(1)	kidney(1)	c.G127A						.						124	108	114					17																	60598179		2203	4300	6503	SO:0001583	missense	11011	exon3			AGCGTCGGATCCT	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.127G>A	17.37:g.60598179G>A	ENSP00000316512:p.Gly43Arg	71	1		83	3	NM_001112707	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	g	9.101	1.004227	0.19199	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.49	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.91192	0.7225	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.947	D	0.91980	0.5594	10	0.87932	D	0	.	13.6299	0.62189	0.0743:0.0:0.9257:0.0	.	43;43;43	Q86UE8;Q86UE8-3;Q86UE8-2	TLK2_HUMAN;.;.	R	43	ENSP00000275780:G43R;ENSP00000340800:G43R;ENSP00000316512:G43R;ENSP00000442311:G43R	ENSP00000316512:G43R	G	+	1	0	TLK2	57951911	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.789000	0.85783	1.333000	0.45449	-0.186000	0.12905	GGA	.		0.393	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		A	60598179	G	A	60598179	3	1	10	1	0	0	0	0	1	0	0	0	15991	1117	39	1	133	1	TLK2	17	60598179	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	4057900	60598179	20597031	106	1432											
CDC42EP4	23580	ucsc.edu	37	17	71282351	71282351	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:71282351G>A	ENST00000335793.3	-	2	683	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	CDC42EP4_ENST00000439510.2_Intron|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	97					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGCTGCTCCCGCTCCCCCCTG	0.617																																					p.R97W													.	CDC42EP4	19	0			c.C289T						.						46	46	46					17																	71282351		2203	4300	6503	SO:0001583	missense	23580	exon2			GCTCCCGCTCCCC	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.289C>T	17.37:g.71282351G>A	ENSP00000338258:p.Arg97Trp	34	0		41	4	NM_012121	B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775871	0.31411	.	.	ENSG00000179604	ENST00000335793	T	0.33438	1.41	4.29	3.3	0.37823	.	0.521995	0.21112	N	0.079968	T	0.36663	0.0975	L	0.57536	1.79	0.80722	D	1	D	0.61697	0.99	P	0.47744	0.556	T	0.29397	-1.0013	10	0.56958	D	0.05	-20.4293	12.9804	0.58559	0.0:0.0:0.8366:0.1634	.	97	Q9H3Q1	BORG4_HUMAN	W	97	ENSP00000338258:R97W	ENSP00000338258:R97W	R	-	1	2	CDC42EP4	68793946	1.000000	0.71417	0.997000	0.53966	0.630000	0.37929	1.730000	0.38125	0.993000	0.38866	0.484000	0.47621	CGG	.		0.617	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		A	71282351	G	A	71282351	3	1	10	1	0	0	0	0	1	0	0	0	3085	1086	38	1	785	1	CDC42EP4	17	71282351	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	10684172	71282351	9912859	107	1433											
CD300C	10871	hgsc.bcm.edu	37	17	72540765	72540765	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr17:72540765T>A	ENST00000330793.1	-	2	743	c.383A>T	c.(382-384)gAg>gTg	p.E128V		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	128	Ig-like V-type.|Pro-rich.				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.E128V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CACGGACACCTCAACCTCGAC	0.577																																					p.E128V	Esophageal Squamous(66;421 1121 20537 25337 27468)	.											CD300C,caecum,carcinoma,0,1	CD300C	0	1	Substitution - Missense(1)	large_intestine(1)	c.A383T						.						134	118	123					17																	72540765		2203	4300	6503	SO:0001583	missense	10871	exon2			GACACCTCAACCT	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.383A>T	17.37:g.72540765T>A	ENSP00000329507:p.Glu128Val	58	0		67	3	NM_006678		Missense_Mutation	SNP	ENST00000330793.1	37	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	T	7.156	0.584829	0.13749	.	.	ENSG00000167850	ENST00000330793	T	0.04049	3.72	4.33	-8.67	0.00863	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.727610	0.03315	N	0.191014	T	0.04679	0.0127	L	0.35487	1.065	0.09310	N	1	B	0.25105	0.118	B	0.32289	0.143	T	0.17992	-1.0351	10	0.34782	T	0.22	.	8.1724	0.31262	0.419:0.0:0.4502:0.1308	.	128	Q08708	CLM6_HUMAN	V	128	ENSP00000329507:E128V	ENSP00000329507:E128V	E	-	2	0	CD300C	70052360	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.676000	0.00200	-3.237000	0.00208	0.454000	0.30748	GAG	.		0.577	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		A	72540765	T	A	72540765	3	1	10	1	0	0	0	0	1	0	0	0	3004	1551	54	5	303	5	CD300C	17	72540765	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	1258414	72540765	8654445	108	1434											
CABYR	26256	hgsc.bcm.edu	37	18	21736349	21736349	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr18:21736349C>A	ENST00000399481.2	+	2	742	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	295					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)					CATATATCATCTGTCTATAAC	0.413																																					p.S295Y		.											CABYR,NS,carcinoma,0,1	CABYR	0	0			c.C884A						.						80	77	78					18																	21736349		2203	4300	6503	SO:0001583	missense	26256	exon4			TATCATCTGTCTA	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.590C>A	18.37:g.21736349C>A	ENSP00000382404:p.Ser197Tyr	49	0		46	2	NM_012189	B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000399481.2	37		.	.	.	.	.	.	.	.	.	.	C	11.85	1.761671	0.31228	.	.	ENSG00000154040	ENST00000399481	T	0.37235	1.21	5.74	5.74	0.90152	.	0.243150	0.29609	N	0.011676	T	0.54727	0.1876	L	0.50333	1.59	0.25633	N	0.986281	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.48127	-0.9062	9	.	.	.	-13.2696	16.6285	0.84993	0.0:1.0:0.0:0.0	.	277;295	O75952-2;O75952	.;CABYR_HUMAN	Y	197	ENSP00000382404:S197Y	.	S	+	2	0	CABYR	19990347	0.165000	0.22948	0.921000	0.36526	0.866000	0.49608	4.240000	0.58701	2.698000	0.92095	0.591000	0.81541	TCT	.		0.413	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		A	21736349	C	A	21736349	3	1	10	1	0	0	0	0	1	0	0	0	2543	913	32	3	894	3	CABYR	18	21736349	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09		21736349	56340899	109	1435											
WDR7	23335	hgsc.bcm.edu	37	18	54424284	54424284	+	Silent	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr18:54424284C>T	ENST00000254442.3	+	15	2671	c.2460C>T	c.(2458-2460)tgC>tgT	p.C820C	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.C820C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	820					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)		ATGAAGTTTGCCTGGATCGCC	0.468																																					p.C820C		.											WDR7,NS,carcinoma,0,1	WDR7	0	0			c.C2460T						.						194	184	187					18																	54424284		2203	4300	6503	SO:0001819	synonymous_variant	23335	exon15			AGTTTGCCTGGAT	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.2460C>T	18.37:g.54424284C>T		52	0		48	2	NM_052834	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	CCDS11962.1																																																																																			.		0.468	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			T	54424284	C	T	54424284	2	4	10	1	0	0	0	0	0	0	0	1	17369	747	26	3		3	WDR7	18	54424284	Silent	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	32687935	54424284	23652964	110	1436											
CPLX4	339302	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	56963944	56963944	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr18:56963944A>T	ENST00000299721.3	-	3	655	c.469T>A	c.(469-471)Tgt>Agt	p.C157S	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	157					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.C157R(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				ATCACGGAACACTTCTGCTCC	0.498																																					p.C157S		.											CPLX4,NS,haematopoietic_neoplasm,0,1	CPLX4	0	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.T469A						.						88	80	83					18																	56963944		2203	4300	6503	SO:0001583	missense	339302	exon3			CGGAACACTTCTG	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.469T>A	18.37:g.56963944A>T	ENSP00000299721:p.Cys157Ser	24	0		23	4	NM_181654	F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891663	0.91889	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78685	0.4322	M	0.74881	2.28	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.81395	-0.0952	9	0.87932	D	0	-12.6254	15.557	0.76203	1.0:0.0:0.0:0.0	.	157	Q7Z7G2	CPLX4_HUMAN	S	157	.	ENSP00000299721:C157S	C	-	1	0	CPLX4	55114924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.884000	0.92432	2.144000	0.66660	0.459000	0.35465	TGT	.		0.498	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		T	56963944	A	T	56963944	3	4	10	1	0	0	0	0	1	0	0	0	3814	159	6	5	17	5	CPLX4	18	56963944	Missense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	2539660	56963944	21113304	111	1437											
C19orf26	255057	hgsc.bcm.edu	37	19	1235857	1235857	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:1235857C>T	ENST00000382477.2	-	3	422	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	C19orf26_ENST00000590083.1_Missense_Mutation_p.V56M|AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000215376.6_Missense_Mutation_p.V50M			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	50						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)		GTGCCCCCCACGAACAGCGAC	0.677										HNSCC(14;0.022)																											p.V56M		.											.	.	.	0			c.G166A						.						154	121	132					19																	1235857		2203	4300	6503	SO:0001583	missense	255057	exon3			CCCCCACGAACAG	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.148G>A	19.37:g.1235857C>T	ENSP00000371917:p.Val50Met	36	0		59	4	NM_152769	O43385	Missense_Mutation	SNP	ENST00000382477.2	37		.	.	.	.	.	.	.	.	.	.	C	13.36	2.212694	0.39102	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	4.31	0.393	0.16294	.	0.677351	0.13524	N	0.381500	T	0.17323	0.0416	N	0.12182	0.205	0.09310	N	1	B	0.26845	0.161	B	0.19148	0.024	T	0.15435	-1.0437	9	0.40728	T	0.16	.	7.028	0.24950	0.0:0.4938:0.0:0.5062	.	50	Q8N350-2	.	M	50	.	ENSP00000215376:V50M	V	-	1	0	C19orf26	1186857	0.031000	0.19500	0.100000	0.21137	0.585000	0.36419	-0.045000	0.12003	0.294000	0.22547	0.561000	0.74099	GTG	.		0.677	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		T	1235857	C	T	1235857	3	4	10	1	0	0	0	0	1	0	0	0	1923	536	19	1	1223	1	C19orf26	19	1235857	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09		1235857	57893126	112	1438											
MUM1	84939	hgsc.bcm.edu	37	19	1360675	1360675	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:1360675C>T	ENST00000415183.3	+	4	784	c.758C>T	c.(757-759)gCc>gTc	p.A253V	MUM1_ENST00000344663.3_Missense_Mutation_p.A253V|MUM1_ENST00000311401.5_Missense_Mutation_p.A184V|MUM1_ENST00000591806.1_Missense_Mutation_p.A253V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	252					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)		AGCTGGGCAGCCCCGTCCTTG	0.647																																					p.A253V		.											MUM1,NS,malignant_melanoma,0,1	MUM1	0	0			c.C758T						.						52	53	52					19																	1360675		2203	4300	6503	SO:0001583	missense	84939	exon5			GGGCAGCCCCGTC	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.758C>T	19.37:g.1360675C>T	ENSP00000394925:p.Ala253Val	24	0		48	3	NM_032853	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37		.	.	.	.	.	.	.	.	.	.	C	0.971	-0.700175	0.03279	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.23147	1.95;1.95;1.92	3.5	-1.29	0.09288	.	1.752180	0.03001	N	0.148161	T	0.12603	0.0306	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.25235	0.121;0.121;0.077;0.031	B;B;B;B	0.24155	0.051;0.051;0.037;0.009	T	0.10042	-1.0647	10	0.02654	T	1	.	1.3313	0.02136	0.1646:0.3161:0.3218:0.1975	.	253;253;184;252	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	V	253;184;253	ENSP00000345789:A253V;ENSP00000309135:A184V;ENSP00000394925:A253V	ENSP00000309135:A184V	A	+	2	0	MUM1	1311675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.113000	0.11958	0.650000	0.86243	GCC	.		0.647	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		T	1360675	C	T	1360675	3	4	10	1	0	0	0	0	1	0	0	0	10023	739	26	3	772	3	MUM1	19	1360675	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	124818	1360675	57768308	113	1439											
S1PR5	53637	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	10624541	10624541	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:10624541C>T	ENST00000439028.3	-	2	1272	c.1147G>A	c.(1147-1149)Ggt>Agt	p.G383S	S1PR5_ENST00000333430.4_Missense_Mutation_p.G383S	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	383					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)	GTGGGTGCACCGGGGCTGCCT	0.657																																					p.G383S		.											.	.	.	0			c.G1147A						.						21	27	25					19																	10624541		2163	4228	6391	SO:0001583	missense	53637	exon2			GTGCACCGGGGCT	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.1147G>A	19.37:g.10624541C>T	ENSP00000416915:p.Gly383Ser	27	0		30	5	NM_030760	Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654790	0.47467	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	T;T	0.80824	-1.42;-1.42	4.51	2.15	0.27550	.	3.055300	0.02354	N	0.076264	T	0.71195	0.3311	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.59532	-0.7437	10	0.66056	D	0.02	.	8.6821	0.34214	0.0:0.7331:0.0:0.2669	.	383	Q9H228	S1PR5_HUMAN	S	383	ENSP00000416915:G383S;ENSP00000328472:G383S	ENSP00000328472:G383S	G	-	1	0	S1PR5	10485541	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.039000	0.13884	0.859000	0.35456	0.313000	0.20887	GGT	.		0.657	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		T	10624541	C	T	10624541	3	4	10	1	0	0	0	0	1	0	0	0	13842	652	23	1	53	1	S1PR5	19	10624541	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	9263866	10624541	48504442	114	1440											
ZNF441	126068	hgsc.bcm.edu	37	19	11891967	11891967	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:11891967G>T	ENST00000357901.4	+	4	1430	c.1328G>T	c.(1327-1329)gGg>gTg	p.G443V	ZNF441_ENST00000454339.2_Missense_Mutation_p.G376V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	443					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.G443E(1)|p.G376E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCACACTGGGGAGAGACCC	0.388																																					p.G443V		.											ZNF441_ENST00000357901,NS,carcinoma,0,2	ZNF441_ENST00000357901	0	2	Substitution - Missense(2)	lung(2)	c.G1328T						.						43	45	44					19																	11891967		2203	4300	6503	SO:0001583	missense	126068	exon4			ACACTGGGGAGAG	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1328G>T	19.37:g.11891967G>T	ENSP00000350576:p.Gly443Val	57	0		33	2	NM_152355		Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	18.95	3.732324	0.69189	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.23552	1.9;1.9	1.22	1.22	0.21188	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49440	0.1557	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55224	-0.8174	9	0.72032	D	0.01	.	9.9894	0.41860	0.0:0.0:1.0:0.0	.	443	Q8N8Z8	ZN441_HUMAN	V	399;443;376	ENSP00000350576:G443V;ENSP00000403738:G376V	ENSP00000350576:G443V	G	+	2	0	ZNF441	11752967	0.977000	0.34250	0.016000	0.15963	0.732000	0.41865	2.682000	0.46934	0.968000	0.38212	0.305000	0.20034	GGG	.		0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		T	11891967	G	T	11891967	3	4	10	1	0	0	0	0	1	0	0	0	17962	1232	43	3	1342	3	ZNF441	19	11891967	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	1267426	11891967	47237016	115	1441											
HSH2D	84941	hgsc.bcm.edu	37	19	16268032	16268032	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:16268032C>T	ENST00000253680.6	+	8	1018	c.487C>T	c.(487-489)Cca>Tca	p.P163S	HSH2D_ENST00000397372.4_Missense_Mutation_p.P74S|HSH2D_ENST00000593154.2_Missense_Mutation_p.P163S|HSH2D_ENST00000588246.1_Missense_Mutation_p.P163S			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	163					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						CTCCCCAAAGCCAGTCCTGTG	0.562																																					p.P163S		.											.	.	.	0			c.C487T						.						40	43	42					19																	16268032		1900	4121	6021	SO:0001583	missense	84941	exon8			CCAAAGCCAGTCC	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.487C>T	19.37:g.16268032C>T	ENSP00000253680:p.Pro163Ser	70	0		71	4	NM_032855	B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37		.	.	.	.	.	.	.	.	.	.	C	15.60	2.882618	0.51908	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.50277	0.75	2.59	2.59	0.31030	.	1.396740	0.06345	U	0.708628	T	0.55465	0.1922	L	0.41824	1.3	0.09310	N	1	D;D	0.89917	1.0;0.997	D;P	0.72338	0.977;0.878	T	0.48364	-0.9042	10	0.12103	T	0.63	.	8.8379	0.35123	0.0:1.0:0.0:0.0	.	106;163	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	S	74;163	ENSP00000253680:P163S	ENSP00000253680:P163S	P	+	1	0	HSH2D	16129032	0.000000	0.05858	0.014000	0.15608	0.392000	0.30506	-0.137000	0.10389	1.753000	0.51906	0.491000	0.48974	CCA	.		0.562	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16268032	C	T	16268032	3	4	10	1	0	0	0	0	1	0	0	0	7427	739	26	3	505	3	HSH2D	19	16268032	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	4376065	16268032	42860951	116	1442											
ZNF536	9745	broad.mit.edu	37	19	30934714	30934714	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:30934714C>T	ENST00000355537.3	+	2	392	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	82					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)					AGTCAGATGGCGCTCCTGGCC	0.677																																					p.A82V													ZNF536,NS,carcinoma,-1,1	ZNF536	424	0			c.C245T						.						26	28	27					19																	30934714		2202	4300	6502	SO:0001583	missense	9745	exon2			AGATGGCGCTCCT		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.245C>T	19.37:g.30934714C>T	ENSP00000347730:p.Ala82Val	55	0		65	5	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864381	0.51482	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.00470	-1.1720	10	0.44086	T	0.13	-23.068	19.7691	0.96356	0.0:1.0:0.0:0.0	.	82;82	A7E228;O15090	.;ZN536_HUMAN	V	82	ENSP00000347730:A82V	ENSP00000347730:A82V	A	+	2	0	ZNF536	35626554	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.791000	0.85805	2.689000	0.91719	0.462000	0.41574	GCG	.		0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30934714	C	T	30934714	3	4	10	1	0	0	0	0	1	0	0	0	18022	768	27	1	247	1	ZNF536	19	30934714	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	14666682	30934714	28194269	117	1443											
PEPD	5184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	33953903	33953903	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:33953903T>G	ENST00000244137.7	-	9	702	c.669A>C	c.(667-669)gaA>gaC	p.E223D	PEPD_ENST00000436370.3_Missense_Mutation_p.E159D|PEPD_ENST00000397032.4_Intron	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	223					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)					TGGCTTACCTTTCCAACTCAT	0.408																																					p.E223D		.											.	.	.	0			c.A669C						.						222	202	208					19																	33953903		1883	4110	5993	SO:0001583	missense	5184	exon9			TTACCTTTCCAAC	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.669A>C	19.37:g.33953903T>G	ENSP00000244137:p.Glu223Asp	72	0		49	20	NM_000285	A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.353483	0.61293	.	.	ENSG00000124299	ENST00000244137;ENST00000436370	T;T	0.76839	-1.05;-1.05	5.3	2.02	0.26589	Peptidase M24, structural domain (3);	0.154277	0.64402	D	0.000012	D	0.87136	0.6102	M	0.88181	2.935	0.54753	D	0.999983	D;D	0.67145	0.994;0.996	D;D	0.73708	0.981;0.962	D	0.85061	0.0934	10	0.87932	D	0	-24.6413	7.8477	0.29435	0.0:0.3436:0.0:0.6564	.	159;223	E9PCE8;P12955	.;PEPD_HUMAN	D	223;159	ENSP00000244137:E223D;ENSP00000391890:E159D	ENSP00000244137:E223D	E	-	3	2	PEPD	38645743	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	0.517000	0.22832	0.078000	0.16900	-0.290000	0.09829	GAA	.		0.408	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		G	33953903	T	G	33953903	3	3	10	1	0	0	0	0	1	0	0	0	11767	1838	64	4	840	4	PEPD	19	33953903	Missense_Mutation	SNP	T	TCGA-W5-AA2I-01A-32D-A417-09	3019189	33953903	25175080	118	1444											
CAPN12	147968	hgsc.bcm.edu	37	19	39234742	39234742	+	Missense_Mutation	SNP	C	C	T	rs565347573		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:39234742C>T	ENST00000328867.4	-	1	372	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	22					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)			TGCAGGCGCCCGGCTCCGACC	0.647													c|||	1	0.000199681	0	0	5008	,	,		14036	0.001		0	False		,,,				2504	0				p.G22R		.											.	.	.	0			c.G64A						.						53	52	52					19																	39234742		2203	4300	6503	SO:0001583	missense	147968	exon1			GGCGCCCGGCTCC	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.64G>A	19.37:g.39234742C>T	ENSP00000331636:p.Gly22Arg	69	0		87	4	NM_144691		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	c	5.054	0.195574	0.09599	.	.	ENSG00000182472	ENST00000328867	T	0.15487	2.42	4.68	-9.35	0.00633	.	1.206320	0.06059	N	0.658044	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.30707	-0.9969	10	0.15952	T	0.53	.	2.8159	0.05456	0.0996:0.2201:0.3824:0.2979	.	22	Q6ZSI9	CAN12_HUMAN	R	22	ENSP00000331636:G22R	ENSP00000331636:G22R	G	-	1	0	CAPN12	43926582	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-2.624000	0.00876	-1.616000	0.01572	0.457000	0.33378	GGG	.		0.647	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			T	39234742	C	T	39234742	3	4	10	1	0	0	0	0	1	0	0	0	2632	652	23	1	2179	1	CAPN12	19	39234742	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	5280839	39234742	19894241	119	1445											
ZNF233	353355	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	44777811	44777812	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	AG	AG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr19:44777811_44777812delAG	ENST00000391958.2	+	5	1125_1126	c.998_999delAG	c.(997-999)cagfs	p.Q333fs	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Frame_Shift_Del_p.Q315fs	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	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)			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)				CAACCTCATCAGAGAGTCAGCA	0.525																																					p.333_333del		.											.	.	.	0			c.997_998del						.																																			SO:0001589	frameshift_variant	353355	exon5			CTCATCAGAGAGT	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.998_999delAG	19.37:g.44777815_44777816delAG	ENSP00000375820:p.Gln333fs	34	0		30	11	NM_001207005	B2RN78|B2RN79|Q86WL8	Frame_Shift_Del	DEL	ENST00000391958.2	37	CCDS33047.1																																																																																			.		0.525	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		-	44777812	AG	-	44777811	7	5	10	1	0	1	0	1	0	0	0	0	17834	188	7	0	1012	0	ZNF233	19	44777811	Frame_Shift_Del	DEL	AG	TCGA-W5-AA2I-01A-32D-A417-09	5543069	44777811	14351172	120	1446											
CASS4	57091	ucsc.edu	37	20	55033541	55033541	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr20:55033541C>T	ENST00000360314.3	+	7	2324	c.2099C>T	c.(2098-2100)gCg>gTg	p.A700V	CASS4_ENST00000434344.1_Missense_Mutation_p.A263V|AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Missense_Mutation_p.A700V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	700					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						AGCCAGCCCGCGGAGATCATC	0.592																																					p.A700V													CASS4,colon,carcinoma,+1,1	CASS4	121	0			c.C2099T						.						70	64	66					20																	55033541		2203	4300	6503	SO:0001583	missense	57091	exon6			AGCCCGCGGAGAT	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.2099C>T	20.37:g.55033541C>T	ENSP00000353462:p.Ala700Val	34	0		39	4	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913722	0.52439	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.23950	1.88;1.88;1.88	5.9	5.9	0.94986	CAS family, DUF3513 (1);	0.114404	0.64402	D	0.000013	T	0.18635	0.0447	N	0.08118	0	0.40064	D	0.975937	B;B;B	0.32829	0.386;0.02;0.224	B;B;B	0.32980	0.156;0.002;0.076	T	0.13629	-1.0502	10	0.87932	D	0	-26.9255	20.2789	0.98501	0.0:1.0:0.0:0.0	.	646;263;700	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	V	700;700;263	ENSP00000353462:A700V;ENSP00000360387:A700V;ENSP00000410027:A263V	ENSP00000353462:A700V	A	+	2	0	CASS4	54466948	1.000000	0.71417	0.264000	0.24511	0.002000	0.02628	7.071000	0.76770	2.788000	0.95919	0.650000	0.86243	GCG	.		0.592	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		T	55033541	C	T	55033541	3	4	10	1	0	0	0	0	1	0	0	0	2690	768	27	1	2121	1	CASS4	20	55033541	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09		55033541	7991979	121	1447											
UCKL1	54963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	62577877	62577877	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chr20:62577877G>A	ENST00000354216.6	-	2	275	c.233C>T	c.(232-234)aCc>aTc	p.T78I	UCKL1_ENST00000369892.3_Missense_Mutation_p.T78I|UCKL1_ENST00000358711.3_Missense_Mutation_p.T78I|UCKL1_ENST00000492660.1_5'Flank|UCKL1_ENST00000369908.5_Missense_Mutation_p.T63I	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	78					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)					GGTGTAGATGGTACGCTTGCT	0.662																																					p.T78I		.											.	.	.	0			c.C233T						.						73	70	71					20																	62577877		2202	4296	6498	SO:0001583	missense	54963	exon2			TAGATGGTACGCT	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.233C>T	20.37:g.62577877G>A	ENSP00000346155:p.Thr78Ile	48	0		47	9	NM_017859	B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332125	0.60853	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908;ENST00000418992	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	M	0.76727	2.345	0.80722	D	1	D;D	0.62365	0.991;0.968	P;P	0.61201	0.885;0.661	T	0.80400	-0.1398	9	0.72032	D	0.01	-50.4594	15.4917	0.75611	0.0:0.0:1.0:0.0	.	63;78	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	I	78;78;78;63;63	.	ENSP00000346155:T78I	T	-	2	0	UCKL1	62048321	1.000000	0.71417	0.997000	0.53966	0.038000	0.13279	9.264000	0.95635	2.063000	0.61619	0.313000	0.20887	ACC	.		0.662	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		A	62577877	G	A	62577877	3	1	10	1	0	0	0	0	1	0	0	0	16974	1261	44	3	1469	3	UCKL1	20	62577877	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	7544336	62577877	447643	122	1448											
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	32361350	32361350	+	Nonsense_Mutation	SNP	A	A	T	rs398123993		TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chrX:32361350A>T	ENST00000357033.4	-	40	5846	c.5640T>A	c.(5638-5640)taT>taA	p.Y1880*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Y1876*	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	1880	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)				TCTTGTACTGATACCACTGAT	0.368																																					p.Y1880X		.											.	.	.	0			c.T5640A						.						114	103	107					X																	32361350		2202	4300	6502	SO:0001587	stop_gained	1756	exon40			GTACTGATACCAC	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.5640T>A	X.37:g.32361350A>T	ENSP00000354923:p.Tyr1880*	23	0		17	13	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	47	13.089895	0.99719	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	.	.	.	6.06	6.06	0.98353	.	0.000000	0.34133	U	0.004233	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	.	.	.	X	1872;539;536;1876;1880;1880;1757;99	.	ENSP00000354923:Y1880X	Y	-	3	2	DMD	32271271	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.031000	0.64134	2.043000	0.60533	0.481000	0.45027	TAT	.		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32361350	A	T	32361350	4	4	10	1	0	0	0	0	0	1	0	0	4594	340	12	5	5725	5	DMD	23	32361350	Nonsense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09		32361350	122909210	123	1449											
MAGED1	9500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	51640334	51640334	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chrX:51640334A>T	ENST00000375722.1	+	5	1705	c.1453A>T	c.(1453-1455)Aag>Tag	p.K485*	MAGED1_ENST00000326587.7_Nonsense_Mutation_p.K485*|MAGED1_ENST00000375695.2_Nonsense_Mutation_p.K541*|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.K485*|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	485	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|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 branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTTGATGCTTAAGGACTACAC	0.423										Multiple Myeloma(10;0.10)																											p.K541X		.											.	.	.	0			c.A1621T						.						97	72	81					X																	51640334		2203	4300	6503	SO:0001587	stop_gained	9500	exon6			ATGCTTAAGGACT	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1453A>T	X.37:g.51640334A>T	ENSP00000364874:p.Lys485*	24	0		16	8	NM_001005333	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Nonsense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	A	38	7.023926	0.98010	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	.	.	.	3.54	3.54	0.40534	.	0.000000	0.40302	N	0.001129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7128	0.28688	1.0:0.0:0.0:0.0	.	.	.	.	X	485;485;485;541	.	ENSP00000325333:K485X	K	+	1	0	MAGED1	51657074	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.727000	0.61993	1.634000	0.50500	0.350000	0.21858	AAG	.		0.423	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		T	51640334	A	T	51640334	4	4	10	1	0	0	0	0	0	1	0	0	9221	363	13	5	1639	5	MAGED1	23	51640334	Nonsense_Mutation	SNP	A	TCGA-W5-AA2I-01A-32D-A417-09	19278984	51640334	103630226	124	1450											
HDX	139324	bcgsc.ca	37	X	83581279	83581279	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chrX:83581279C>A	ENST00000297977.5	-	9	1965	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	HDX_ENST00000373177.2_Missense_Mutation_p.E618D|HDX_ENST00000506585.2_Missense_Mutation_p.E560D	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	618						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						GAATCTCGAGCTCATTTTCAA	0.328																																					p.E618D	Pancreas(53;231 1169 36156 43751 51139)												.	HDX	124	0			c.G1854T						.						70	65	67					X																	83581279		2202	4299	6501	SO:0001583	missense	139324	exon9			CTCGAGCTCATTT	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.1854G>T	X.37:g.83581279C>A	ENSP00000297977:p.Glu618Asp	45	0		30	3	NM_144657	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227899	0.39399	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.44482	0.99;0.92;0.99	5.04	1.25	0.21368	.	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	L	0.32530	0.975	0.29987	N	0.81724	P	0.46784	0.884	B	0.38225	0.268	T	0.20571	-1.0271	10	0.59425	D	0.04	-25.7244	9.1626	0.37032	0.0:0.6228:0.0:0.3772	.	618	Q7Z353	HDX_HUMAN	D	618;560;618	ENSP00000297977:E618D;ENSP00000362272:E560D;ENSP00000423670:E618D	ENSP00000297977:E618D	E	-	3	2	HDX	83467935	0.997000	0.39634	0.998000	0.56505	0.996000	0.88848	0.287000	0.18920	0.071000	0.16664	0.586000	0.80456	GAG	.		0.328	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		A	83581279	C	A	83581279	3	1	10	1	0	0	0	0	1	0	0	0	7053	796	28	3	226	3	HDX	23	83581279	Missense_Mutation	SNP	C	TCGA-W5-AA2I-01A-32D-A417-09	31940945	83581279	71689281	125	1451											
PCDH11X	27328	broad.mit.edu	37	X	91133148	91133148	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2I-01A-32D-A417-09	TCGA-W5-AA2I-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d35cc49-75c0-4c1d-8319-d6812d7a5d08	2cb8b919-012e-4f36-9620-0517dd7b02ca	g.chrX:91133148G>A	ENST00000373094.1	+	2	2754	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	PCDH11X_ENST00000406881.1_Missense_Mutation_p.E637K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.E637K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.E637K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.E637K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.E637K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E637K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.E637K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E637K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						AGAAAAACAAGAATCTTACAC	0.373																																					p.E637K	NSCLC(38;925 1092 2571 38200 45895)												.	PCDH11X	714	0			c.G1909A						.						32	30	31					X																	91133148		2197	4278	6475	SO:0001583	missense	27328	exon2			AAACAAGAATCTT	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.1909G>A	X.37:g.91133148G>A	ENSP00000362186:p.Glu637Lys	96	1		46	31	NM_001168363	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	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103378	0.56291	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.35	5.35	0.76521	Cadherin (5);Cadherin-like (1);	0.230367	0.44285	D	0.000463	T	0.51702	0.1690	N	0.04043	-0.29	0.33919	D	0.640638	P;P;P;P;P;P;P;P	0.51933	0.837;0.564;0.936;0.936;0.936;0.949;0.837;0.837	P;P;P;P;P;P;P;P	0.55508	0.458;0.467;0.669;0.669;0.669;0.777;0.458;0.458	T	0.69953	-0.5005	10	0.87932	D	0	.	16.9558	0.86259	0.0:0.0:1.0:0.0	.	637;637;637;637;637;637;637;637	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	637	ENSP00000378746:E637K;ENSP00000362186:E637K;ENSP00000362189:E637K;ENSP00000355040:E637K;ENSP00000362180:E637K;ENSP00000423762:E637K;ENSP00000355105:E637K;ENSP00000384758:E637K;ENSP00000298274:E637K	ENSP00000298274:E637K	E	+	1	0	PCDH11X	91019804	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.069000	0.64370	2.212000	0.71576	0.415000	0.27848	GAA	.		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91133148	G	A	91133148	3	1	10	1	0	0	0	0	1	0	0	0	11547	943	33	3	1915	3	PCDH11X	23	91133148	Missense_Mutation	SNP	G	TCGA-W5-AA2I-01A-32D-A417-09	7551869	91133148	64137412	126	1452											
CA6	765	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	9027751	9027751	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:9027751A>G	ENST00000377443.2	+	6	609	c.605A>G	c.(604-606)cAg>cGg	p.Q202R	CA6_ENST00000377436.3_Missense_Mutation_p.Q202R|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.Q142R	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	202					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)	CTTGACGTTCAGGACATGCTG	0.567																																					p.Q202R		.											.	.	.	0			c.A605G						.						170	135	146					1																	9027751		2203	4300	6503	SO:0001583	missense	765	exon6			ACGTTCAGGACAT	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.605A>G	1.37:g.9027751A>G	ENSP00000366662:p.Gln202Arg	28	0		31	25	NM_001270500	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	A	0.107	-1.144274	0.01728	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.31	-6.03	0.02185	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.996839	0.08138	N	0.992027	T	0.31451	0.0797	N	0.04746	-0.17	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34104	-0.9842	10	0.02654	T	1	.	4.279	0.10824	0.3213:0.0:0.2517:0.427	.	142;202	E7EMQ1;P23280	.;CAH6_HUMAN	R	170;202;202;142	ENSP00000447108:Q170R;ENSP00000366662:Q202R;ENSP00000366654:Q202R;ENSP00000366661:Q142R	ENSP00000366654:Q202R	Q	+	2	0	CA6	8950338	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.340000	0.07821	-1.504000	0.01810	-1.447000	0.01057	CAG	.		0.567	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			G	9027751	A	G	9027751	3	3	11	1	0	0	0	0	1	0	0	0	2528	188	7	4	627	4	CA6	1	9027751	Missense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09		9027751	240222870	1	1453											
HNRNPCL1	343069	hgsc.bcm.edu	37	1	12907275	12907275	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	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		.											HNRNPCL1,NS,neuroblastoma,0,1	HNRNPCL1	0	0			c.C868G						.						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	60	0		75	4	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	.		0.443	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907275	G	C	12907275	3	2	11	1	0	0	0	0	1	0	0	0	7290	1357	47	5	15	5	HNRNPCL1	1	12907275	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	3879524	12907275	236343346	2	1454											
HNRNPCL1	343069	ucsc.edu;bcgsc.ca	37	1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	rs74587302|rs559905244	byFrequency	TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	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													HNRNPCL1,NS,neuroblastoma,0,1	HNRNPCL1	68	0			c.A785G						.						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	49	0		62	10	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	.		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907358	T	C	12907358	3	2	11	1	0	0	0	0	1	0	0	0	7290	1580	55	4	98	4	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09	83	12907358	236343263	3	1455											
CLCNKB	1188	broad.mit.edu	37	1	16383402	16383402	+	Silent	SNP	C	C	T	rs6698427		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:16383402C>T	ENST00000375679.4	+	20	2166	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	CLCNKB_ENST00000375667.3_Silent_p.A515A|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	685					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)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		ATCCGCCAGCCCCAAAGTGAG	0.587																																					p.A685A													.	CLCNKB	50	0			c.C2055T						.						66	64	65					1																	16383402		2203	4300	6503	SO:0001819	synonymous_variant	1188	exon20			GCCAGCCCCAAAG	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.2055C>T	1.37:g.16383402C>T		102	0		111	4	NM_000085	B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																			.		0.587	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		T	16383402	C	T	16383402	2	4	11	1	0	0	0	0	0	0	0	1	3477	610	22	3		3	CLCNKB	1	16383402	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	3476044	16383402	232867219	4	1456											
C1orf172	126695	hgsc.bcm.edu	37	1	27278443	27278443	+	Silent	SNP	G	G	T	rs535449942		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:27278443G>T	ENST00000320567.5	-	2	517	c.429C>A	c.(427-429)ccC>ccA	p.P143P		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		143					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		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;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGCCGGCTGGGGGGTGCAC	0.632																																					p.P143P		.											.,1	.	38	0			c.C429A						.						24	27	26					1																	27278443		2203	4300	6503	SO:0001819	synonymous_variant	126695	exon2			CCGGCTGGGGGGT																												ENST00000320567.5:c.429C>A	1.37:g.27278443G>T		24	0		17	2	NM_152365	Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	7.389	0.630340	0.14322	.	.	ENSG00000175707	ENST00000374109	.	.	.	4.84	-1.75	0.08031	.	0.116963	0.64402	D	0.000014	T	0.38134	0.1029	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	T	0.09185	-1.0686	6	0.24483	T	0.36	.	2.4145	0.04432	0.4097:0.1141:0.3592:0.1169	.	.	.	.	Q	104	.	ENSP00000363223:P104Q	P	-	2	0	C1orf172	27151030	0.992000	0.36948	0.578000	0.28575	0.977000	0.68977	0.403000	0.20982	-0.559000	0.06110	0.650000	0.86243	CCA	.		0.632	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			T	27278443	G	T	27278443	2	4	11	1	0	0	0	0	0	0	0	1	2020	1335	47	3		3	C1orf172	1	27278443	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	10895041	27278443	221972178	5	1457											
ZMYM6	9204	hgsc.bcm.edu	37	1	35472571	35472571	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:35472571G>T	ENST00000357182.4	-	12	2021	c.1794C>A	c.(1792-1794)gaC>gaA	p.D598E	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.D598E|ZMYM6_ENST00000373340.2_Missense_Mutation_p.D598E	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	598					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)				GTGGAAGACAGTCATTCATAA	0.323																																					p.D598E		.											.	.	.	0			c.C1794A						.						87	83	84					1																	35472571		2202	4300	6502	SO:0001583	missense	9204	exon12			AAGACAGTCATTC	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.1794C>A	1.37:g.35472571G>T	ENSP00000349708:p.Asp598Glu	104	0		94	4	NM_007167	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946605	0.53186	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.21191	2.02;3.19	5.14	-1.09	0.09904	.	0.452214	0.24377	N	0.039051	T	0.28632	0.0709	L	0.35414	1.06	0.24844	N	0.992446	D;P;B	0.76494	0.999;0.913;0.184	D;P;B	0.78314	0.991;0.688;0.124	T	0.10917	-1.0609	10	0.66056	D	0.02	-16.6125	9.3815	0.38316	0.4283:0.0:0.5717:0.0	.	501;598;598	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	E	598	ENSP00000362437:D598E;ENSP00000349708:D598E	ENSP00000349708:D598E	D	-	3	2	ZMYM6	35245158	0.965000	0.33210	0.030000	0.17652	0.867000	0.49689	-0.241000	0.08940	-0.269000	0.09298	-0.140000	0.14226	GAC	.		0.323	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		T	35472571	G	T	35472571	3	4	11	1	0	0	0	0	1	0	0	0	17752	1020	36	3	2203	3	ZMYM6	1	35472571	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	8194128	35472571	213778050	6	1458											
MACF1	23499	hgsc.bcm.edu	37	1	39766025	39766025	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:39766025G>T	ENST00000372915.3	+	21	2727	c.2640G>T	c.(2638-2640)agG>agT	p.R880S	MACF1_ENST00000567887.1_Missense_Mutation_p.R912S|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.R880S|MACF1_ENST00000564288.1_Missense_Mutation_p.R875S|MACF1_ENST00000317713.7_Missense_Mutation_p.R880S|MACF1_ENST00000545844.1_Missense_Mutation_p.R880S|MACF1_ENST00000361689.2_Missense_Mutation_p.R880S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	880	SH3.				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)			GTGACTACAGGCAGATCGAGG	0.473																																					p.R880S		.											.	.	.	0			c.G2640T						.						87	71	77					1																	39766025		2203	4300	6503	SO:0001583	missense	23499	exon23			CTACAGGCAGATC	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.2640G>T	1.37:g.39766025G>T	ENSP00000362006:p.Arg880Ser	19	0		66	5	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.44|14.44	2.535261|2.535261	0.45176|0.45176	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	.|T;T;T;T;T;T;T	.|0.80393	.|0.16;-1.37;0.16;0.16;0.16;0.16;0.16	5.81|5.81	0.44|0.44	0.16572|0.16572	.|.	.|.	.|.	.|.	.|.	D|D	0.83294|0.83294	0.5223|0.5223	M|M	0.65320|0.65320	2|2	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.993;0.998	.|D;D	.|0.71184	.|0.91;0.972	T|T	0.79142|0.79142	-0.1925|-0.1925	5|9	.|0.87932	.|D	.|0	.|.	2.8031|2.8031	0.05420|0.05420	0.2603:0.1115:0.5137:0.1145|0.2603:0.1115:0.5137:0.1145	.|.	.|880;845	.|F8W8Q1;Q9UPN3-3	.|.;.	S|S	14|880;880;880;880;880;838;1029;1042	.|ENSP00000439537:R880S;ENSP00000362006:R880S;ENSP00000354573:R880S;ENSP00000313438:R880S;ENSP00000444364:R880S;ENSP00000435070:R838S;ENSP00000437059:R1029S	.|ENSP00000313438:R880S	A|R	+|+	1|3	0|2	MACF1|MACF1	39538612|39538612	0.883000|0.883000	0.30277|0.30277	0.998000|0.998000	0.56505|0.56505	0.777000|0.777000	0.43975|0.43975	-0.061000|-0.061000	0.11693|0.11693	0.092000|0.092000	0.17331|0.17331	-0.140000|-0.140000	0.14226|0.14226	GCA|AGG	.		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39766025	G	T	39766025	3	4	11	1	0	0	0	0	1	0	0	0	9180	1194	42	3	2722	3	MACF1	1	39766025	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	4293454	39766025	209484596	7	1459											
VCAM1	7412	hgsc.bcm.edu;bcgsc.ca	37	1	101186235	101186235	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:101186235G>A	ENST00000294728.2	+	2	369	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	VCAM1_ENST00000370115.1_Missense_Mutation_p.E90K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.E90K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	90	Ig-like C2-type 1.				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)	TTTTGGGAACGAACACTCTTA	0.423																																					p.E90K		.											VCAM1,NS,carcinoma,0,1	VCAM1	0	0			c.G268A						.						104	91	95					1																	101186235		2203	4300	6503	SO:0001583	missense	7412	exon2			GGGAACGAACACT	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.268G>A	1.37:g.101186235G>A	ENSP00000294728:p.Glu90Lys	45	0		75	4	NM_001078	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857375	0.51376	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.68181	-0.31;-0.31;-0.31	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.191742	0.56097	D	0.000038	T	0.80639	0.4661	M	0.89904	3.07	0.26401	N	0.976425	D;D	0.89917	0.997;1.0	P;D	0.79784	0.695;0.993	T	0.76992	-0.2753	9	.	.	.	-18.7626	13.9512	0.64118	0.0:0.0:0.8486:0.1514	.	90;90	P19320-2;P19320	.;VCAM1_HUMAN	K	90	ENSP00000304611:E90K;ENSP00000294728:E90K;ENSP00000359133:E90K	.	E	+	1	0	VCAM1	100958823	1.000000	0.71417	0.329000	0.25429	0.178000	0.23041	4.467000	0.60155	2.745000	0.94114	0.655000	0.94253	GAA	.		0.423	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		A	101186235	G	A	101186235	3	1	11	1	0	0	0	0	1	0	0	0	17186	1059	37	1	274	1	VCAM1	1	101186235	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	61420210	101186235	148064386	8	1460											
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	108247684	108247684	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:108247684C>A	ENST00000370056.4	-	16	1777		c.e16-1		VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000371846.4_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						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)		TATGTTAGACCTAAAAAAAGG	0.378																																					.		.											.	.	.	0			c.1503-1G>T						.						64	59	61					1																	108247684		2203	4300	6503	SO:0001630	splice_region_variant	10451	exon17			TTAGACCTAAAAA	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.1503-1G>T	1.37:g.108247684C>A		34	0		65	25	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143231	0.77888	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000529809;ENST00000490388;ENST00000371846	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108049207	1.000000	0.71417	0.993000	0.49108	0.818000	0.46254	6.840000	0.75369	2.937000	0.99478	0.650000	0.86243	.	.		0.378	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	A	108247684	C	A	108247684	5	1	11	1	0	0	0	0	0	0	1	0	17182	695	24	3	1114	3	VAV3	1	108247684	Splice_Site	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	7061449	108247684	141002937	9	1461											
GOLPH3L	55204	hgsc.bcm.edu	37	1	150667291	150667291	+	Silent	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:150667291G>T	ENST00000271732.3	-	2	68	c.24C>A	c.(22-24)gcC>gcA	p.A8A	GOLPH3L_ENST00000540514.1_Silent_p.A8A|GOLPH3L_ENST00000479757.1_5'UTR	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	8					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|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;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAGTGCGACGGGCCCGGTGAG	0.388																																					p.A8A		.											.	.	.	0			c.C24A						.						139	132	134					1																	150667291		2203	4300	6503	SO:0001819	synonymous_variant	55204	exon2			GCGACGGGCCCGG	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.24C>A	1.37:g.150667291G>T		47	0		76	4	NM_018178	B1AN09|B7Z6N3|Q9NVK0	Silent	SNP	ENST00000271732.3	37	CCDS966.1																																																																																			.		0.388	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		T	150667291	G	T	150667291	2	4	11	1	0	0	0	0	0	0	0	1	6595	1219	43	3		3	GOLPH3L	1	150667291	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	42419607	150667291	98583330	10	1462											
SEMA6C	10500	hgsc.bcm.edu;broad.mit.edu	37	1	151109372	151109372	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:151109372C>T	ENST00000341697.3	-	11	2626	c.935G>A	c.(934-936)cGc>cAc	p.R312H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	312	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)			GAGAGCAGAGCGGCCATGCAG	0.537																																					p.R312H		.											SEMA6C,NS,carcinoma,0,1	SEMA6C	0	0			c.G935A						.						98	105	103					1																	151109372		2203	4300	6503	SO:0001583	missense	10500	exon11			GCAGAGCGGCCAT	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.935G>A	1.37:g.151109372C>T	ENSP00000344148:p.Arg312His	54	0		59	4	NM_001178061	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821437	0.50633	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.69	1.83	0.25207	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.111857	0.64402	N	0.000011	T	0.14013	0.0339	M	0.85462	2.755	0.43385	D	0.995493	P;B;B;B	0.44946	0.846;0.017;0.205;0.037	B;B;B;B	0.34452	0.183;0.004;0.025;0.004	T	0.03221	-1.1059	10	0.52906	T	0.07	.	8.1793	0.31300	0.0:0.7322:0.0:0.2678	.	312;272;312;312	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	H	312;272;312;312;312	ENSP00000357910:R312H;ENSP00000357908:R272H;ENSP00000357909:R312H;ENSP00000344148:R312H	ENSP00000344148:R312H	R	-	2	0	SEMA6C	149375996	0.000000	0.05858	0.993000	0.49108	0.993000	0.82548	-0.121000	0.10643	0.226000	0.20979	0.561000	0.74099	CGC	.		0.537	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		T	151109372	C	T	151109372	3	4	11	1	0	0	0	0	1	0	0	0	14086	768	27	1	1993	1	SEMA6C	1	151109372	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	442081	151109372	98141249	11	1463											
NAV1	89796	hgsc.bcm.edu	37	1	201709171	201709171	+	Intron	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:201709171C>A	ENST00000367296.4	+	3	1646				NAV1_ENST00000367300.3_Intron|RP11-90L20.2_ENST00000429443.1_RNA|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367297.4_Intron|NAV1_ENST00000367295.1_Missense_Mutation_p.P7H|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						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						CTGCCCCTGCCCAGATCCGGA	0.701																																					p.P7H		.											.	.	.	0			c.C20A						.						28	40	36					1																	201709171		692	1591	2283	SO:0001627	intron_variant	89796	exon1			CCCTGCCCAGATC	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.1226+21288C>A	1.37:g.201709171C>A		106	0		93	4	NM_001167738	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181976	0.57800	.	.	ENSG00000134369	ENST00000367295	T	0.06687	3.27	4.37	4.37	0.52481	.	.	.	.	.	T	0.13628	0.0330	.	.	.	0.80722	D	1	P	0.46457	0.878	P	0.46885	0.53	T	0.00773	-1.1572	8	0.87932	D	0	.	12.3398	0.55087	0.0:1.0:0.0:0.0	.	7	Q8NEY1-5	.	H	7	ENSP00000356264:P7H	ENSP00000356264:P7H	P	+	2	0	NAV1	199975794	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.172000	0.50832	2.252000	0.74401	0.586000	0.80456	CCC	.		0.701	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		A	201709171	C	A	201709171	1	1	11	0	1	0	0	0	0	0	0	0	10221	623	22	3		3	NAV1	1	201709171	Intron	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	50599799	201709171	47541450	12	1464											
OR2T12	127064	ucsc.edu	37	1	248458419	248458419	+	Silent	SNP	G	G	C	rs142654576		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr1:248458419G>C	ENST00000317996.1	-	1	461	c.462C>G	c.(460-462)ggC>ggG	p.G154G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	154						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)			CCTGCAGGAGGCCGTCAGCTG	0.602																																					p.G154G													.	OR2T12	113	0			c.C462G						.						87	93	91					1																	248458419		2162	4286	6448	SO:0001819	synonymous_variant	127064	exon1			CAGGAGGCCGTCA	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.462C>G	1.37:g.248458419G>C		22	0		39	7	NM_001004692		Silent	SNP	ENST00000317996.1	37	CCDS31110.1																																																																																			G|0.833;C|0.167		0.602	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		C	248458419	G	C	248458419	2	2	11	1	0	0	0	0	0	0	0	1	11058	1190	42	5		5	OR2T12	1	248458419	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	46749248	248458419	792202	13	1465											
SOS1	6654	hgsc.bcm.edu	37	2	39222277	39222277	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:39222277G>T	ENST00000426016.1	-	21	3419	c.3333C>A	c.(3331-3333)agC>agA	p.S1111R	SOS1_ENST00000402219.2_Missense_Mutation_p.S1111R|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000395038.2_Missense_Mutation_p.S1111R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1111					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)				AGTGAAAAGGGCTCGAATGAT	0.393									Noonan syndrome																												p.S1111R		.											.	.	.	0			c.C3333A						.						92	86	88					2																	39222277		2203	4300	6503	SO:0001583	missense	6654	exon20	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	AAAAGGGCTCGAA	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.3333C>A	2.37:g.39222277G>T	ENSP00000387784:p.Ser1111Arg	68	0		91	5	NM_005633	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446203	0.63178	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.78003	-1.04;-1.04;-1.14	5.91	5.03	0.67393	.	0.433874	0.28940	N	0.013647	T	0.69360	0.3102	L	0.59436	1.845	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60737	-0.7204	10	0.16896	T	0.51	.	8.3608	0.32357	0.2389:0.0:0.7611:0.0	.	1111	Q07889	SOS1_HUMAN	R	1111;1111;843;1111	ENSP00000387784:S1111R;ENSP00000384675:S1111R;ENSP00000378479:S1111R	ENSP00000378479:S1111R	S	-	3	2	SOS1	39075781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.377000	0.52425	2.813000	0.96785	0.655000	0.94253	AGC	.		0.393	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		T	39222277	G	T	39222277	3	4	11	1	0	0	0	0	1	0	0	0	14981	1194	42	3	684	3	SOS1	2	39222277	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		39222277	203977096	14	1466											
GTF2A1L	11036	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	48896871	48896871	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:48896871C>T	ENST00000403751.3	+	7	1026	c.989C>T	c.(988-990)tCt>tTt	p.S330F	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1034F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1034F|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S296F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S1034F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1034F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S987F|LHCGR_ENST00000420913.3_5'Flank	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	330					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GATTCTAATTCTCAGGTGGAT	0.294																																					p.S1034F													.	STON1-GTF2A1L	180	0			c.C3101T						.						89	100	96					2																	48896871		2202	4299	6501	SO:0001583	missense	0	exon9			CTAATTCTCAGGT	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.989C>T	2.37:g.48896871C>T	ENSP00000384597:p.Ser330Phe	56	1		95	42	NM_001198593	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	0.905	-0.721100	0.03182	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.94	4.07	0.47477	.	0.523804	0.19999	N	0.101379	T	0.31918	0.0812	L	0.41824	1.3	0.80722	D	1	B;B;B;B;B	0.16396	0.001;0.001;0.017;0.003;0.001	B;B;B;B;B	0.20767	0.004;0.002;0.031;0.011;0.009	T	0.15378	-1.0439	10	0.49607	T	0.09	.	6.3799	0.21529	0.1794:0.7283:0.0:0.0923	.	296;987;1034;330;1034	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	F	1034;1034;1034;1034;987;329;296;330	ENSP00000385499:S1034F;ENSP00000385701:S1034F;ENSP00000378236:S1034F;ENSP00000311493:S1034F;ENSP00000378234:S987F;ENSP00000387896:S296F;ENSP00000384597:S330F	ENSP00000384597:S330F	S	+	2	0	STON1-GTF2A1L;GTF2A1L	48750375	0.282000	0.24268	0.891000	0.34965	0.067000	0.16453	1.091000	0.30915	1.317000	0.45149	-0.254000	0.11334	TCT	.		0.294	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		T	48896871	C	T	48896871	3	4	11	1	0	0	0	0	1	0	0	0	6880	913	32	3	1015	3	GTF2A1L	2	48896871	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	9674594	48896871	194302502	15	1467											
NRXN1	9378	hgsc.bcm.edu	37	2	50699451	50699451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:50699451C>A	ENST00000406316.2	-	16	4705	c.3229G>T	c.(3229-3231)Gag>Tag	p.E1077*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E1077*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E1069*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E1077*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.E86*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E1069*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.E1117*|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1077	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)			CATCCTCTCTCGATCTGTCCG	0.433																																					p.E1117X		.											NRXN1_ENST00000536085,NS,carcinoma,0,3	NRXN1_ENST00000536085	0	0			c.G3349T						.						77	72	74					2																	50699451		1860	4112	5972	SO:0001587	stop_gained	9378	exon17			CTCTCTCGATCTG	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.3229G>T	2.37:g.50699451C>A	ENSP00000384311:p.Glu1077*	41	0		70	4	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	51	18.161496	0.99900	.	.	ENSG00000179915	ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	.	.	.	X	86;1117;1077;1069;1077;1118;1069;1077	.	ENSP00000385017:E1077X	E	-	1	0	NRXN1	50552955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.691000	0.91804	0.655000	0.94253	GAG	.		0.433	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50699451	C	A	50699451	4	1	11	1	0	0	0	0	0	1	0	0	10704	893	31	2	1589	2	NRXN1	2	50699451	Nonsense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	1802580	50699451	192499922	16	1468											
AAK1	22848	hgsc.bcm.edu	37	2	69741780	69741780	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:69741780C>G	ENST00000409085.4	-	13	1975	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	533	Gln-rich.		Q -> H. {ECO:0000269|PubMed:17344846}.		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						gctgctgctgctgGTAGAAAT	0.532																																					p.Q533H		.											AAK1_ENST00000409085,NS,carcinoma,0,2	AAK1_ENST00000409085	0	0			c.G1599C						.						38	40	39					2																	69741780		2200	4298	6498	SO:0001583	missense	22848	exon13			CTGCTGCTGGTAG	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.1599G>C	2.37:g.69741780C>G	ENSP00000386456:p.Gln533His	47	0		72	6	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	8.018	0.758927	0.15846	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.78003	1.57;-1.13;-1.14	4.89	3.07	0.35406	.	0.854162	0.10089	N	0.717362	T	0.57725	0.2073	N	0.14661	0.345	0.25395	N	0.988498	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41610	-0.9499	10	0.11794	T	0.64	0.4343	6.749	0.23477	0.0:0.7262:0.1782:0.0957	.	533;533;533	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	H	533	ENSP00000386342:Q533H;ENSP00000386456:Q533H;ENSP00000385181:Q533H	ENSP00000385181:Q533H	Q	-	3	2	AAK1	69595284	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.245000	0.18142	0.670000	0.31165	0.447000	0.29281	CAG	.		0.532	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		G	69741780	C	G	69741780	3	3	11	1	0	0	0	0	1	0	0	0	16	796	28	5	1326	5	AAK1	2	69741780	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	19042329	69741780	173457593	17	1469											
HOXD4	3233	broad.mit.edu	37	2	177016418	177016418	+	Silent	SNP	G	G	T	rs376860683		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:177016418G>T	ENST00000306324.3	+	1	469	c.57G>T	c.(55-57)ccG>ccT	p.P19P	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	19					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)		AGTTCCCTCCGTGCGAGGAGT	0.552																																					p.P19P													.	HOXD4	32	0			c.G57T						.						47	50	49					2																	177016418		2184	4230	6414	SO:0001819	synonymous_variant	3233	exon1			CCCTCCGTGCGAG		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.57G>T	2.37:g.177016418G>T		102	0		140	5	NM_014621	B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	37	CCDS2269.1																																																																																			.		0.552	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			T	177016418	G	T	177016418	2	4	11	1	0	0	0	0	0	0	0	1	7351	1132	40	2		2	HOXD4	2	177016418	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	107274638	177016418	66182955	18	1470											
TTN	7273	hgsc.bcm.edu	37	2	179650369	179650369	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:179650369G>T	ENST00000591111.1	-	15	2695	c.2471C>A	c.(2470-2472)cCt>cAt	p.P824H	TTN_ENST00000342175.6_Missense_Mutation_p.P778H|TTN_ENST00000360870.5_Missense_Mutation_p.P824H|TTN_ENST00000359218.5_Missense_Mutation_p.P778H|TTN_ENST00000460472.2_Missense_Mutation_p.P778H|TTN_ENST00000589042.1_Missense_Mutation_p.P824H|TTN_ENST00000342992.6_Missense_Mutation_p.P824H			Q8WZ42	TITIN_HUMAN	titin	33655					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)			TTCTGTCTTAGGAACAGAAAT	0.393																																					p.P824H		.											.	.	.	0			c.C2471A						.						127	125	126					2																	179650369		2203	4300	6503	SO:0001583	missense	7273	exon15			GTCTTAGGAACAG	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.2471C>A	2.37:g.179650369G>T	ENSP00000465570:p.Pro824His	43	0		94	4	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		.	.	.	.	.	.	.	.	.	.	G	15.68	2.906369	0.52333	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70164	-0.46;-0.24;-0.26;-0.27;-0.04	5.63	5.63	0.86233	Ribonuclease H-like (1);	.	.	.	.	T	0.76385	0.3980	L	0.32530	0.975	0.41880	D	0.990319	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;0.998;0.998;1.0	T	0.78163	-0.2311	9	0.87932	D	0	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	778;778;778;824;824	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	824;778;778;778;778;824	ENSP00000343764:P824H;ENSP00000434586:P778H;ENSP00000340554:P778H;ENSP00000352154:P778H;ENSP00000354117:P824H	ENSP00000340554:P778H	P	-	2	0	TTN	179358614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.672000	0.98629	2.798000	0.96311	0.655000	0.94253	CCT	.		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179650369	G	T	179650369	3	4	11	1	0	0	0	0	1	0	0	0	16784	1000	35	3	108909	3	TTN	2	179650369	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	2633951	179650369	63549004	19	1471											
SGOL2	151246	hgsc.bcm.edu	37	2	201407335	201407335	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:201407335A>T	ENST00000357799.4	+	5	519	c.421A>T	c.(421-423)Aag>Tag	p.K141*	SGOL2_ENST00000469840.1_3'UTR|SGOL2_ENST00000409203.3_Nonsense_Mutation_p.K141*	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)	141					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						GTCAGCTAGCAAGAAGAAACG	0.308																																					p.K141X		.											.	.	.	0			c.A421T						.						135	127	129					2																	201407335		1844	4093	5937	SO:0001587	stop_gained	151246	exon5			GCTAGCAAGAAGA	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.421A>T	2.37:g.201407335A>T	ENSP00000350447:p.Lys141*	42	0		83	4	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Nonsense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228448	0.79576	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	.	.	.	5.2	3.01	0.34805	.	0.653568	0.14410	N	0.321370	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3726	10.7268	0.46072	0.408:0.592:0.0:0.0	.	.	.	.	X	141	.	ENSP00000350447:K141X	K	+	1	0	SGOL2	201115580	0.256000	0.24012	0.992000	0.48379	0.944000	0.59088	0.735000	0.26115	0.471000	0.27319	0.402000	0.26972	AAG	.		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		T	201407335	A	T	201407335	4	4	11	1	0	0	0	0	0	1	0	0	14262	131	5	5	435	5	SGOL2	2	201407335	Nonsense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	21756966	201407335	41792038	20	1472											
ALS2	57679	hgsc.bcm.edu	37	2	202593249	202593249	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:202593249G>T	ENST00000264276.6	-	15	3199	c.2827C>A	c.(2827-2829)Ctg>Atg	p.L943M	ALS2_ENST00000457679.2_Missense_Mutation_p.L255M	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	943	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						GCATGGACCAGGGCATCATTA	0.468																																					p.L943M		.											.	.	.	0			c.C2827A						.						98	98	98					2																	202593249		1907	4117	6024	SO:0001583	missense	57679	exon15			GGACCAGGGCATC	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.2827C>A	2.37:g.202593249G>T	ENSP00000264276:p.Leu943Met	34	0		72	3	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675834	0.67928	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.43294	0.95;0.95	5.82	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.64402	D	0.000001	T	0.62307	0.2417	M	0.83603	2.65	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.65092	-0.6252	10	0.87932	D	0	.	7.0591	0.25115	0.3887:0.0:0.6113:0.0	.	943;943	Q6IQ41;Q96Q42	.;ALS2_HUMAN	M	943;255	ENSP00000264276:L943M;ENSP00000394823:L255M	ENSP00000264276:L943M	L	-	1	2	ALS2	202301494	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.513000	0.35823	1.368000	0.46115	0.557000	0.71058	CTG	.		0.468	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		T	202593249	G	T	202593249	3	4	11	1	0	0	0	0	1	0	0	0	550	991	35	3	2226	3	ALS2	2	202593249	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	1185914	202593249	40606124	21	1473											
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																p.R132C	Pancreas(158;264 1958 3300 35450 36047)	.		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	IDH1,NS,haematopoietic_neoplasm,0,788	IDH1	0	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	c.C394T						.						81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417	exon4			CATGACGACCTAT		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	35	0		79	41	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	.		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			A	209113113	G	A	209113113	3	1	11	1	0	0	0	0	1	0	0	0	7521	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	6519864	209113113	34086260	22	1474											
ERBB4	2066	hgsc.bcm.edu	37	2	212251586	212251586	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:212251586G>T	ENST00000342788.4	-	27	3783	c.3473C>A	c.(3472-3474)cCc>cAc	p.P1158H	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1148H|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1142H	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1158					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)	ACCTTGTTTGGGTTTGTCTCG	0.473										TSP Lung(8;0.080)																											p.P1158H		.											.	.	.	0			c.C3473A						.						172	159	164					2																	212251586		2203	4300	6503	SO:0001583	missense	2066	exon27			TGTTTGGGTTTGT	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.3473C>A	2.37:g.212251586G>T	ENSP00000342235:p.Pro1158His	72	0		94	4	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770775	0.69992	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76578	-1.03;-1.01;-1.03	5.6	4.72	0.59763	.	0.248257	0.41194	D	0.000932	T	0.73745	0.3626	L	0.42245	1.32	0.40321	D	0.978828	P;P;P;P	0.41569	0.755;0.742;0.755;0.641	B;B;B;B	0.42916	0.191;0.402;0.386;0.145	T	0.78326	-0.2247	10	0.72032	D	0.01	.	13.9096	0.63857	0.0729:0.0:0.9271:0.0	.	1132;1148;1142;1158	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	H	1158;1142;1148	ENSP00000342235:P1158H;ENSP00000403204:P1142H;ENSP00000385565:P1148H	ENSP00000342235:P1158H	P	-	2	0	ERBB4	211959831	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.007000	0.57093	2.638000	0.89438	0.462000	0.41574	CCC	.		0.473	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		T	212251586	G	T	212251586	3	4	11	1	0	0	0	0	1	0	0	0	5225	1232	43	3	461	3	ERBB4	2	212251586	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	3138473	212251586	30947787	23	1475											
KIAA1486	57624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	226447575	226447575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:226447575C>A	ENST00000272907.6	+	4	1855	c.1442C>A	c.(1441-1443)tCg>tAg	p.S481*	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	481					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGACCCGTGTCGCAAGATGGG	0.672																																					p.S481X		.											.	.	.	0			c.C1442A						.						36	40	39					2																	226447575		1993	4169	6162	SO:0001587	stop_gained	57624	exon4			CCGTGTCGCAAGA	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1442C>A	2.37:g.226447575C>A	ENSP00000272907:p.Ser481*	37	0		71	24	NM_020864	A2RRN4|Q96NL2	Nonsense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	41	8.657250	0.98903	.	.	ENSG00000144460	ENST00000272907	.	.	.	5.5	4.43	0.53597	.	0.739668	0.13238	N	0.403072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6316	9.8733	0.41189	0.0:0.8456:0.0:0.1544	.	.	.	.	X	481	.	ENSP00000272907:S481X	S	+	2	0	KIAA1486	226155819	0.976000	0.34144	0.997000	0.53966	0.938000	0.57974	2.024000	0.41049	2.584000	0.87258	0.563000	0.77884	TCG	.		0.672	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226447575	C	A	226447575	4	1	11	1	0	0	0	0	0	1	0	0	8264	893	31	2	1452	2	KIAA1486	2	226447575	Nonsense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	14195989	226447575	16751798	24	1476											
WDR69	164781	hgsc.bcm.edu	37	2	228771962	228771962	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr2:228771962G>T	ENST00000309931.2	+	10	1050	c.967G>T	c.(967-969)Gct>Tct	p.A323S	DAW1_ENST00000373666.2_Missense_Mutation_p.A323S|DAW1_ENST00000545118.1_Missense_Mutation_p.A308S	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	323						cilium (GO:0005929)											AACTGCTTCAGCTGATGGTAG	0.373																																					p.A323S		.											.	.	.	0			c.G967T						.						153	141	145					2																	228771962		2203	4300	6503	SO:0001583	missense	164781	exon10			GCTTCAGCTGATG		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.967G>T	2.37:g.228771962G>T	ENSP00000311899:p.Ala323Ser	56	0		90	4	NM_178821	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671153	0.67814	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.60920	0.15;1.18;0.15	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056206	0.64402	D	0.000001	T	0.56731	0.2005	N	0.25245	0.725	0.58432	D	0.999995	P	0.45902	0.868	P	0.56216	0.794	T	0.47535	-0.9110	10	0.08599	T	0.76	.	17.6018	0.88027	0.0:0.0:1.0:0.0	.	323	Q8N136	WDR69_HUMAN	S	323;323;308	ENSP00000362770:A323S;ENSP00000311899:A323S;ENSP00000437887:A308S	ENSP00000311899:A323S	A	+	1	0	WDR69	228480206	1.000000	0.71417	0.811000	0.32455	0.818000	0.46254	8.379000	0.90146	2.477000	0.83638	0.655000	0.94253	GCT	.		0.373	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		T	228771962	G	T	228771962	3	4	11	1	0	0	0	0	1	0	0	0	17368	971	34	3	1005	3	WDR69	2	228771962	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	2324387	228771962	14427411	25	1477											
PRR21	643905	hgsc.bcm.edu	37	2	240981683	240981683	+	Silent	SNP	A	A	G	rs554303020	byFrequency	TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	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		.											PRR21,NS,carcinoma,0,2	PRR21	0	2	Substitution - coding silent(2)	stomach(2)	c.T717C						.						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		7	0		22	5	NM_001080835		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			.		0.647	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240981683	A	G	240981683	2	3	11	1	0	0	0	0	0	0	0	1	12634	214	8	4		4	PRR21	2	240981683	Silent	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	12209721	240981683	2217690	26	1478											
TOP2B	7155	hgsc.bcm.edu	37	3	25675377	25675377	+	Silent	SNP	T	T	C			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr3:25675377T>C	ENST00000264331.4	-	8	980	c.981A>G	c.(979-981)aaA>aaG	p.K327K	TOP2B_ENST00000435706.2_Silent_p.K322K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	327					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)	GCTGGAATCCTTTTTCACTCA	0.348																																					p.K322K		.											TOP2B,right_upper_lobe,carcinoma,0,1	TOP2B	0	0			c.A966G						.						162	156	158					3																	25675377		1848	4087	5935	SO:0001819	synonymous_variant	7155	exon8			GAATCCTTTTTCA	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.981A>G	3.37:g.25675377T>C		63	0		49	2	NM_001068	Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37																																																																																				.		0.348	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				C	25675377	T	C	25675377	2	2	11	1	0	0	0	0	0	0	0	1	16414	1606	56	4		4	TOP2B	3	25675377	Silent	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09		25675377	172347053	27	1479											
PLXNB1	5364	bcgsc.ca	37	3	48461494	48461494	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr3:48461494C>A	ENST00000358536.4	-	11	2470	c.2201G>T	c.(2200-2202)aGc>aTc	p.S734I	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S734I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	734	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)		CCCCCAGGGGCTGAGCAGGGA	0.662																																					p.S734I													.	PLXNB1	150	0			c.G2201T						.						18	21	20					3																	48461494		2202	4297	6499	SO:0001583	missense	5364	exon11			CAGGGGCTGAGCA	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.2201G>T	3.37:g.48461494C>A	ENSP00000351338:p.Ser734Ile	42	0		43	4	NM_001130082	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335416	0.60853	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03181	4.02;4.02	4.48	3.61	0.41365	.	0.637901	0.14782	N	0.298752	T	0.01940	0.0061	N	0.08118	0	0.09310	N	0.999994	B	0.14438	0.01	B	0.09377	0.004	T	0.46541	-0.9184	10	0.29301	T	0.29	.	3.4708	0.07566	0.1722:0.5652:0.167:0.0956	.	734	O43157	PLXB1_HUMAN	I	734	ENSP00000296440:S734I;ENSP00000351338:S734I	ENSP00000296440:S734I	S	-	2	0	PLXNB1	48436498	0.000000	0.05858	0.991000	0.47740	0.722000	0.41435	0.262000	0.18460	0.876000	0.35872	0.561000	0.74099	AGC	.		0.662	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48461494	C	A	48461494	3	1	11	1	0	0	0	0	1	0	0	0	12162	797	28	3	4318	3	PLXNB1	3	48461494	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	22786117	48461494	149560936	28	1480											
WNT5A	7474	hgsc.bcm.edu	37	3	55504231	55504231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr3:55504231G>T	ENST00000474267.1	-	6	1553	c.1032C>A	c.(1030-1032)taC>taA	p.Y344*	WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000264634.4_Nonsense_Mutation_p.Y344*|WNT5A_ENST00000497027.1_Nonsense_Mutation_p.Y329*			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	344					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)		TGAACTGGTCGTAGCCACGGC	0.622																																					p.Y344X		.											WNT5A,NS,carcinoma,0,1	WNT5A	0	0			c.C1032A						.						75	80	78					3																	55504231		2203	4300	6503	SO:0001587	stop_gained	7474	exon5			CTGGTCGTAGCCA	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.1032C>A	3.37:g.55504231G>T	ENSP00000417310:p.Tyr344*	52	1		45	2	NM_003392	A8K4A4|Q6P278	Nonsense_Mutation	SNP	ENST00000474267.1	37	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	39	7.332989	0.98217	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	.	.	.	5.67	-4.48	0.03515	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8408	0.63437	0.6388:0.0:0.3612:0.0	.	.	.	.	X	344;344;255;329	.	ENSP00000264634:Y344X	Y	-	3	2	WNT5A	55479271	0.106000	0.21978	0.962000	0.40283	0.999000	0.98932	-0.533000	0.06157	-0.877000	0.04012	0.655000	0.94253	TAC	.		0.622	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		T	55504231	G	T	55504231	4	4	11	1	0	0	0	0	0	1	0	0	17440	1140	40	2	114	2	WNT5A	3	55504231	Nonsense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	7042737	55504231	142518199	29	1481											
BBX	56987	hgsc.bcm.edu	37	3	107435575	107435575	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr3:107435575G>T	ENST00000325805.8	+	5	571	c.284G>T	c.(283-285)cGc>cTc	p.R95L	BBX_ENST00000415149.2_Missense_Mutation_p.R95L|BBX_ENST00000402543.1_Missense_Mutation_p.R95L|BBX_ENST00000416476.2_Missense_Mutation_p.R95L|BBX_ENST00000406780.1_Missense_Mutation_p.R95L			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	95					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAACGCCATCGCTCTCTTGTA	0.473																																					p.R95L		.											.	.	.	0			c.G284T						.						160	148	152					3																	107435575		2203	4300	6503	SO:0001583	missense	56987	exon5			GCCATCGCTCTCT	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.284G>T	3.37:g.107435575G>T	ENSP00000319974:p.Arg95Leu	54	0		83	4	NM_001142568	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113865	0.94339	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000449335;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-3.58;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.06	5.06	0.68205	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.050624	0.85682	D	0.000000	D	0.99450	0.9805	H	0.98466	4.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.997	D	0.98107	1.0418	10	0.87932	D	0	-6.4244	18.8003	0.92013	0.0:0.0:1.0:0.0	.	95;95;95;95	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	L	95	ENSP00000408358:R95L;ENSP00000385317:R95L;ENSP00000319974:R95L;ENSP00000413320:R95L;ENSP00000403860:R95L;ENSP00000408297:R95L;ENSP00000404654:R95L;ENSP00000413274:R95L;ENSP00000385518:R95L;ENSP00000385530:R95L;ENSP00000403806:R95L;ENSP00000406554:R95L;ENSP00000407662:R95L;ENSP00000414673:R95L	ENSP00000319974:R95L	R	+	2	0	BBX	108918265	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.506000	0.84524	0.460000	0.39030	CGC	.		0.473	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		T	107435575	G	T	107435575	3	4	11	1	0	0	0	0	1	0	0	0	1344	1087	38	2	290	2	BBX	3	107435575	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	51931344	107435575	90586855	30	1482											
C3orf52	79669	hgsc.bcm.edu	37	3	111828389	111828389	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr3:111828389G>A	ENST00000264848.5	+	4	455		c.e4-1		C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000431717.2_Intron	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TGTTTGTTTAGCTCACAGATG	0.408																																					.		.											.	.	.	0			c.397-1G>A						.						206	190	195					3																	111828389		1929	4151	6080	SO:0001630	splice_region_variant	79669	exon4			TGTTTAGCTCACA	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.397-1G>A	3.37:g.111828389G>A		41	0		119	5	NM_024616	B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Splice_Site	SNP	ENST00000264848.5	37	CCDS46887.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197509	0.58126	.	.	ENSG00000114529	ENST00000264848	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.772	0.63032	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf52	113311079	1.000000	0.71417	0.993000	0.49108	0.746000	0.42486	5.032000	0.64140	2.377000	0.81083	0.655000	0.94253	.	.		0.408	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616	Intron	A	111828389	G	A	111828389	5	1	11	1	0	0	0	0	0	0	1	0	2239	985	34	3	410	3	C3orf52	3	111828389	Splice_Site	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	4392814	111828389	86194041	31	1483											
PIK3CB	5291	hgsc.bcm.edu	37	3	138407796	138407796	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr3:138407796G>A	ENST00000477593.1	-	15	2130	c.2057C>T	c.(2056-2058)gCt>gTt	p.A686V	PIK3CB_ENST00000544716.1_Missense_Mutation_p.A132V|PIK3CB_ENST00000289153.2_Missense_Mutation_p.A686V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	686	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TACTGAGACAGCAGGAATGTG	0.393																																					p.A686V		.											.	.	.	0			c.C2057T						.						87	77	80					3																	138407796		2203	4300	6503	SO:0001583	missense	5291	exon14			GAGACAGCAGGAA		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2057C>T	3.37:g.138407796G>A	ENSP00000418143:p.Ala686Val	43	0		55	4	NM_006219	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091123	0.76756	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.64803	-0.12;-0.12;-0.12	5.24	5.24	0.73138	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.70275	2.135	0.80722	D	1	B;B;P	0.37423	0.433;0.277;0.594	B;B;B	0.41946	0.371;0.297;0.17	T	0.67624	-0.5623	10	0.36615	T	0.2	-6.8373	19.2063	0.93732	0.0:0.0:1.0:0.0	.	686;273;132	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	V	686;132;686	ENSP00000418143:A686V;ENSP00000438259:A132V;ENSP00000289153:A686V	ENSP00000289153:A686V	A	-	2	0	PIK3CB	139890486	1.000000	0.71417	0.977000	0.42913	0.818000	0.46254	9.739000	0.98837	2.592000	0.87571	0.655000	0.94253	GCT	.		0.393	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			A	138407796	G	A	138407796	3	1	11	1	0	0	0	0	1	0	0	0	11953	971	34	3	1189	3	PIK3CB	3	138407796	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	26579407	138407796	59614634	32	1484											
MED12L	116931	hgsc.bcm.edu;bcgsc.ca	37	3	150876586	150876586	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr3:150876586G>T	ENST00000474524.1	+	6	875	c.837G>T	c.(835-837)caG>caT	p.Q279H	MED12L_ENST00000309237.4_Splice_Site_p.Q279H|MED12L_ENST00000273432.4_Splice_Site_p.Q279H|MED12L_ENST00000422248.2_Splice_Site_p.Q279H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	279						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)			TAATGCTGCAGGTATAGTACA	0.378																																					p.Q279H		.											.	.	.	0			c.G837T						.						76	67	70					3																	150876586		2203	4300	6503	SO:0001630	splice_region_variant	116931	exon6			GCTGCAGGTATAG	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.837+1G>T	3.37:g.150876586G>T		41	0		117	5	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439014	0.83885	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.59502	0.35;0.34;0.26;1.41	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	M	0.68317	2.08	0.58432	D	0.999998	P;D;D;D	0.65815	0.851;0.989;0.987;0.995	P;P;P;D	0.77004	0.492;0.795;0.878;0.989	T	0.77720	-0.2482	10	0.87932	D	0	-15.0373	17.619	0.88075	0.0:0.0:1.0:0.0	.	279;279;279;279	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	H	279	ENSP00000403308:Q279H;ENSP00000310760:Q279H;ENSP00000417235:Q279H;ENSP00000273432:Q279H	ENSP00000273432:Q279H	Q	+	3	2	MED12L	152359276	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.111000	0.89564	2.519000	0.84933	0.467000	0.42956	CAG	.		0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	Missense_Mutation	T	150876586	G	T	150876586	5	4	11	1	0	0	0	0	0	0	1	0	9467	1014	35	3	859	3	MED12L	3	150876586	Splice_Site	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	12468790	150876586	47145844	33	1485											
RBM47	54502	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	40434693	40434693	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:40434693G>T	ENST00000381793.2	-	5	1913	c.1517C>A	c.(1516-1518)aCt>aAt	p.T506N	RBM47_ENST00000515809.1_5'Flank|RBM47_ENST00000295971.7_Missense_Mutation_p.T506N|RBM47_ENST00000381795.6_Missense_Mutation_p.T437N|RBM47_ENST00000514014.1_Missense_Mutation_p.T468N|RBM47_ENST00000319592.4_Missense_Mutation_p.T437N			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	506	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTCGACACAGTGGGAATGAC	0.567																																					p.T506N		.											.	.	.	0			c.C1517A						.						51	56	55					4																	40434693		2203	4300	6503	SO:0001583	missense	54502	exon6			GACACAGTGGGAA	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1517C>A	4.37:g.40434693G>T	ENSP00000371212:p.Thr506Asn	39	0		40	4	NM_001098634	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535921	0.45176	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.16324	2.39;2.35;2.39;2.35;2.35	5.43	5.43	0.79202	.	0.446035	0.27023	N	0.021310	T	0.10809	0.0264	N	0.08118	0	0.34114	D	0.66334	B;B	0.26258	0.145;0.02	B;B	0.18561	0.022;0.01	T	0.14755	-1.0461	10	0.31617	T	0.26	-5.2854	18.8467	0.92210	0.0:0.0:1.0:0.0	.	437;506	A0AV96-2;A0AV96	.;RBM47_HUMAN	N	437;506;437;506;468	ENSP00000320108:T437N;ENSP00000371212:T506N;ENSP00000371214:T437N;ENSP00000295971:T506N;ENSP00000423243:T468N	ENSP00000295971:T506N	T	-	2	0	RBM47	40129450	0.998000	0.40836	0.830000	0.32933	0.020000	0.10135	9.167000	0.94773	2.553000	0.86117	0.491000	0.48974	ACT	.		0.567	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40434693	G	T	40434693	3	4	11	1	0	0	0	0	1	0	0	0	13186	1029	36	3	272	3	RBM47	4	40434693	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		40434693	150719583	34	1486											
TMPRSS11A	339967	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	68777188	68777188	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:68777188G>T	ENST00000334830.7	-	10	1884	c.1138C>A	c.(1138-1140)Ctg>Atg	p.L380M	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.L376M|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.L377M			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	380	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)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GTATCTTTCAGATCCCTTGTG	0.358																																					p.L380M	NSCLC(26;2 894 10941 14480 22546)	.											.	.	.	0			c.C1138A						.						121	115	117					4																	68777188		2203	4300	6503	SO:0001583	missense	339967	exon10			CTTTCAGATCCCT	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.1138C>A	4.37:g.68777188G>T	ENSP00000334611:p.Leu380Met	41	0		52	5	NM_182606	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591258	0.13812	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.66	-1.7	0.08159	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.210600	0.06017	N	0.650682	T	0.80138	0.4568	N	0.20685	0.6	0.09310	N	1	P;P	0.49696	0.927;0.927	P;P	0.45474	0.482;0.482	T	0.70539	-0.4844	10	0.35671	T	0.21	.	3.4072	0.07345	0.3422:0.0:0.2424:0.4154	.	377;380	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	M	376;380;377;344	ENSP00000426911:L376M;ENSP00000334611:L380M;ENSP00000379491:L377M;ENSP00000427621:L344M	ENSP00000334611:L380M	L	-	1	2	TMPRSS11A	68459783	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.057000	0.11768	-0.212000	0.10109	0.460000	0.39030	CTG	.		0.358	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		T	68777188	G	T	68777188	3	4	11	1	0	0	0	0	1	0	0	0	16286	933	33	3	131	3	TMPRSS11A	4	68777188	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	28342495	68777188	122377088	35	1487											
DSPP	1834	ucsc.edu;bcgsc.ca	37	4	88537327	88537327	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:88537327C>T	ENST00000282478.7	+	4	3546	c.3513C>T	c.(3511-3513)agC>agT	p.S1171S	DSPP_ENST00000399271.1_Silent_p.S1171S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1171	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)		gcagcgacagcagcgatagca	0.567																																					p.S1171S													DSPP,colon,carcinoma,+1,1	DSPP	174	0			c.C3513T						.						44	64	57					4																	88537327		1613	2855	4468	SO:0001819	synonymous_variant	1834	exon5			CGACAGCAGCGAT	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.3513C>T	4.37:g.88537327C>T		42	0		34	4	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.567	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537327	C	T	88537327	2	4	11	1	0	0	0	0	0	0	0	1	4796	709	25	3		3	DSPP	4	88537327	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	19760139	88537327	102616949	36	1488											
SEC24B	10427	bcgsc.ca	37	4	110453888	110453888	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:110453888G>T	ENST00000265175.5	+	21	3539	c.3484G>T	c.(3484-3486)Gac>Tac	p.D1162Y	SEC24B_ENST00000504968.2_Missense_Mutation_p.D1192Y|SEC24B_ENST00000399100.2_Missense_Mutation_p.D1127Y	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1162					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)		tttccttatggactgtggctc	0.438																																					p.D1162Y													.	SEC24B	186	0			c.G3484T						.						74	71	72					4																	110453888		1914	4121	6035	SO:0001583	missense	10427	exon21			CTTATGGACTGTG	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.3484G>T	4.37:g.110453888G>T	ENSP00000265175:p.Asp1162Tyr	38	0		24	3	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806449	0.90623	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.65364	-0.15;-0.15;-0.15	5.75	5.75	0.90469	Gelsolin domain (1);	0.088138	0.85682	D	0.000000	D	0.84800	0.5552	M	0.94101	3.495	0.80722	D	1	P;D;P;P;D	0.71674	0.725;0.998;0.905;0.951;0.961	B;D;P;P;P	0.67548	0.324;0.952;0.609;0.531;0.661	D	0.88153	0.2852	10	0.87932	D	0	-3.9527	19.9341	0.97130	0.0:0.0:1.0:0.0	.	1076;761;1192;1127;1162	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	Y	1192;1127;1162	ENSP00000428564:D1192Y;ENSP00000382051:D1127Y;ENSP00000265175:D1162Y	ENSP00000265175:D1162Y	D	+	1	0	SEC24B	110673337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.244000	0.95423	2.711000	0.92665	0.563000	0.77884	GAC	.		0.438	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			T	110453888	G	T	110453888	3	4	11	1	0	0	0	0	1	0	0	0	14040	1174	41	3	3566	3	SEC24B	4	110453888	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	21916561	110453888	80700388	37	1489											
NDST4	64579	hgsc.bcm.edu	37	4	115858480	115858480	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:115858480G>T	ENST00000264363.2	-	5	2079	c.1401C>A	c.(1399-1401)agC>agA	p.S467R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	467	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCACCATGATGCTATTGTGAA	0.443																																					p.S467R		.											.	.	.	0			c.C1401A						.						165	154	158					4																	115858480		2203	4300	6503	SO:0001583	missense	64579	exon5			CATGATGCTATTG	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1401C>A	4.37:g.115858480G>T	ENSP00000264363:p.Ser467Arg	49	0		58	3	NM_022569	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066727	0.55539	.	.	ENSG00000138653	ENST00000264363	T	0.35789	1.29	5.77	4.93	0.64822	.	0.479163	0.28527	N	0.015036	T	0.25827	0.0629	N	0.22421	0.69	0.38985	D	0.959037	B	0.02656	0.0	B	0.10450	0.005	T	0.08411	-1.0723	10	0.66056	D	0.02	.	10.5196	0.44912	0.1486:0.0:0.8514:0.0	.	467	Q9H3R1	NDST4_HUMAN	R	467	ENSP00000264363:S467R	ENSP00000264363:S467R	S	-	3	2	NDST4	116077929	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.947000	0.63583	1.424000	0.47217	0.655000	0.94253	AGC	.		0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		T	115858480	G	T	115858480	3	4	11	1	0	0	0	0	1	0	0	0	10297	1310	46	3	1257	3	NDST4	4	115858480	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	5404592	115858480	75295796	38	1490											
CLGN	1047	hgsc.bcm.edu	37	4	141321605	141321605	+	Silent	SNP	G	G	T	rs138156952		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:141321605G>T	ENST00000325617.5	-	7	1040	c.600C>A	c.(598-600)ccC>ccA	p.P200P	CLGN_ENST00000414773.1_Silent_p.P200P|CLGN_ENST00000537281.1_Silent_p.P200P	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	200					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)	p.P200P(1)		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)					CTCCAGTTTTGGGATGTTTAT	0.333																																					p.P200P		.											CLGN,hand,malignant_melanoma,0,1	CLGN	0	1	Substitution - coding silent(1)	skin(1)	c.C600A						.						105	110	108					4																	141321605		2203	4300	6503	SO:0001819	synonymous_variant	1047	exon8			AGTTTTGGGATGT	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.600C>A	4.37:g.141321605G>T		31	0		45	2	NM_001130675	B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	CCDS3751.1																																																																																			.		0.333	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		T	141321605	G	T	141321605	2	4	11	1	0	0	0	0	0	0	0	1	3531	1335	47	3		3	CLGN	4	141321605	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	25463125	141321605	49832671	39	1491											
TIGD4	201798	hgsc.bcm.edu	37	4	153691681	153691681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:153691681G>T	ENST00000304337.2	-	2	1296	c.476C>A	c.(475-477)tCg>tAg	p.S159*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	159						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S159L(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CCAGACAGTCGAAGGGTCTAC	0.358																																					p.S159X		.											TIGD4,colon,carcinoma,+1,3	TIGD4	+1	1	Substitution - Missense(1)	lung(1)	c.C476A						.						43	47	46					4																	153691681		2202	4298	6500	SO:0001587	stop_gained	201798	exon2			ACAGTCGAAGGGT	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.476C>A	4.37:g.153691681G>T	ENSP00000355162:p.Ser159*	11	0		46	2	NM_145720	Q96LP5	Nonsense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	G	42	9.524149	0.99195	.	.	ENSG00000169989	ENST00000304337	.	.	.	6.03	6.03	0.97812	.	0.177936	0.27460	N	0.019263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-16.0731	10.5512	0.45090	0.1433:0.0:0.8567:0.0	.	.	.	.	X	159	.	ENSP00000355162:S159X	S	-	2	0	TIGD4	153911131	0.972000	0.33761	0.970000	0.41538	0.996000	0.88848	1.984000	0.40658	2.861000	0.98227	0.655000	0.94253	TCG	.		0.358	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		T	153691681	G	T	153691681	4	4	11	1	0	0	0	0	0	1	0	0	15945	1059	37	2	1066	2	TIGD4	4	153691681	Nonsense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	12370076	153691681	37462595	40	1492											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	187542176	187542176	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr4:187542176G>A	ENST00000441802.2	-	10	5773	c.5564C>T	c.(5563-5565)cCa>cTa	p.P1855L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1855	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						AAATAAACGTGGGGTTCCCAT	0.403										HNSCC(5;0.00058)																											p.P1855L	Colon(197;1040 2055 4143 4984 49344)	.											.	.	.	0			c.C5564T						.						65	66	66					4																	187542176		1939	4128	6067	SO:0001583	missense	2195	exon10			AAACGTGGGGTTC	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.5564C>T	4.37:g.187542176G>A	ENSP00000406229:p.Pro1855Leu	12	0		20	15	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582377	0.86748	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.57436	0.4	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82794	-0.0281	10	0.62326	D	0.03	.	19.6941	0.96016	0.0:0.0:1.0:0.0	.	1855	Q14517	FAT1_HUMAN	L	1855;1857	ENSP00000406229:P1855L	ENSP00000260147:P1857L	P	-	2	0	FAT1	187779170	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.885000	0.99019	0.655000	0.94253	CCA	.		0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187542176	G	A	187542176	3	1	11	1	0	0	0	0	1	0	0	0	5711	1348	47	3	8274	3	FAT1	4	187542176	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	33850495	187542176	3612100	41	1493											
ZDHHC11	79844	bcgsc.ca	37	5	825293	825293	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr5:825293C>T	ENST00000283441.8	-	8	1392	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.D337N|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	337						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)			GCCGTCGAATCCCCATCCTGG	0.547																																					p.D337N													.	ZDHHC11	97	0			c.G1009A						.						188	135	153					5																	825293		2203	4296	6499	SO:0001583	missense	79844	exon8			TCGAATCCCCATC	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.1009G>A	5.37:g.825293C>T	ENSP00000283441:p.Asp337Asn	33	0		34	4	NM_024786	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	8.646	0.897104	0.17686	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.29142	1.58;1.58	0.131	-0.261	0.12963	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.47134	0.539	T	0.08848	-1.0702	8	0.17832	T	0.49	.	.	.	.	.	337	Q9H8X9	ZDH11_HUMAN	N	337	ENSP00000397719:D337N;ENSP00000283441:D337N	ENSP00000283441:D337N	D	-	1	0	ZDHHC11	878293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.388000	0.00488	-1.313000	0.02303	-1.326000	0.01283	GAT	.		0.547	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		T	825293	C	T	825293	3	4	11	1	0	0	0	0	1	0	0	0	17649	855	30	3	249	3	ZDHHC11	5	825293	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		825293	180089967	42	1494											
NSUN2	54888	hgsc.bcm.edu	37	5	6622195	6622195	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr5:6622195C>T	ENST00000264670.6	-	6	867	c.556G>A	c.(556-558)Gca>Aca	p.A186T	NSUN2_ENST00000505264.1_Intron|NSUN2_ENST00000506139.1_Missense_Mutation_p.A151T|NSUN2_ENST00000539938.1_Intron	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	186	S-adenosyl-L-methionine binding. {ECO:0000255|PROSITE-ProRule:PRU01023}.				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						GAGCCAGGTGCTGCACACATA	0.343																																					p.A186T		.											.	.	.	0			c.G556A						.						163	139	147					5																	6622195		2203	4300	6503	SO:0001583	missense	54888	exon6			CAGGTGCTGCACA	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.556G>A	5.37:g.6622195C>T	ENSP00000264670:p.Ala186Thr	43	0		81	4	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508527	0.96386	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.71103	-0.54;-0.47	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95308	0.8409	10	0.87932	D	0	-29.5422	19.3709	0.94484	0.0:1.0:0.0:0.0	.	151;186	B4DQW2;Q08J23	.;NSUN2_HUMAN	T	186;151	ENSP00000264670:A186T;ENSP00000420957:A151T	ENSP00000264670:A186T	A	-	1	0	NSUN2	6675195	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.342000	0.79310	2.576000	0.86940	0.655000	0.94253	GCA	.		0.343	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6622195	C	T	6622195	3	4	11	1	0	0	0	0	1	0	0	0	10717	797	28	3	1803	3	NSUN2	5	6622195	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	5796902	6622195	174293065	43	1495											
MARCH6	10299	hgsc.bcm.edu;bcgsc.ca	37	5	10411446	10411446	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr5:10411446G>T	ENST00000274140.5	+	19	1825	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y	MARCH6_ENST00000449913.2_Splice_Site_p.D517Y|MARCH6_ENST00000510792.1_Splice_Site_p.D263Y|MARCH6_ENST00000503788.1_Splice_Site_p.D460Y	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	565					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGCACAGGGATCTTCATTC	0.348																																					p.D565Y		.											.	.	.	0			c.G1693T						.						74	73	73					5																	10411446		2203	4300	6503	SO:0001630	splice_region_variant	10299	exon19			CACAGGGATCTTC	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1692-1G>T	5.37:g.10411446G>T		42	0		86	5	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598150	0.87055	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.66939	2.045	0.80722	D	1	D;D;D;P	0.89917	0.998;0.997;1.0;0.553	D;D;D;B	0.72338	0.976;0.921;0.977;0.143	T	0.63892	-0.6534	10	0.52906	T	0.07	-25.2581	19.7394	0.96219	0.0:0.0:1.0:0.0	.	460;517;145;565	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	Y	517;460;565;263	ENSP00000414643:D517Y;ENSP00000425930:D460Y;ENSP00000274140:D565Y;ENSP00000424512:D263Y	ENSP00000274140:D565Y	D	+	1	0	MARCH6	10464446	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.409000	0.97331	2.745000	0.94114	0.462000	0.41574	GAT	.		0.348	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	Missense_Mutation	T	10411446	G	T	10411446	5	4	11	1	0	0	0	0	0	0	1	0	9343	1188	41	3	1767	3	MARCH6	5	10411446	Splice_Site	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	3789251	10411446	170503814	44	1496											
SRFBP1	153443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	121362644	121362644	+	Silent	SNP	A	A	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr5:121362644A>T	ENST00000339397.4	+	8	1185	c.1113A>T	c.(1111-1113)ccA>ccT	p.P371P	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAGATTTTCCACAGAATGAGC	0.318																																					p.P371P		.											.	.	.	0			c.A1113T						.						36	34	34					5																	121362644		1804	4063	5867	SO:0001819	synonymous_variant	153443	exon8			TTTTCCACAGAAT	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1113A>T	5.37:g.121362644A>T		34	0		61	29	NM_152546		Silent	SNP	ENST00000339397.4	37	CCDS43354.1																																																																																			.		0.318	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		T	121362644	A	T	121362644	2	4	11	1	0	0	0	0	0	0	0	1	15191	146	6	5		5	SRFBP1	5	121362644	Silent	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	110951198	121362644	59552616	45	1497											
MGAT1	4245	hgsc.bcm.edu;bcgsc.ca	37	5	180219933	180219933	+	Silent	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr5:180219933G>T	ENST00000446023.2	-	3	789	c.39C>A	c.(37-39)ggC>ggA	p.G13G	MGAT1_ENST00000427865.2_Silent_p.G13G|MGAT1_ENST00000393340.3_Silent_p.G13G|MGAT1_ENST00000333055.3_Silent_p.G13G|MGAT1_ENST00000307826.4_Silent_p.G13G	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	13					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)			AGAGGATAGCGCCCCACAGCA	0.672																																					p.G13G		.											.	.	.	0			c.C39A						.						24	28	26					5																	180219933		2198	4293	6491	SO:0001819	synonymous_variant	4245	exon3			GATAGCGCCCCAC	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.39C>A	5.37:g.180219933G>T		35	0		51	4	NM_001114617	A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	CCDS4458.1																																																																																			.		0.672	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		T	180219933	G	T	180219933	2	4	11	1	0	0	0	0	0	0	0	1	9580	1074	38	2		2	MGAT1	5	180219933	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	58857289	180219933	695327	46	1498											
RREB1	6239	broad.mit.edu;bcgsc.ca	37	6	7189542	7189542	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr6:7189542G>T	ENST00000349384.6	+	6	726	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	Y_RNA_ENST00000364613.1_RNA|RREB1_ENST00000379938.2_Missense_Mutation_p.G138W|RREB1_ENST00000379933.3_Missense_Mutation_p.G138W|RREB1_ENST00000334984.6_Missense_Mutation_p.G138W	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	138					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)				TACCACCAATGGGAACATGCA	0.597																																					p.G138W													.	RREB1	242	0			c.G412T						.						65	51	56					6																	7189542		2203	4299	6502	SO:0001583	missense	6239	exon6			ACCAATGGGAACA	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.412G>T	6.37:g.7189542G>T	ENSP00000305560:p.Gly138Trp	19	0		14	7	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024633	0.93518	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	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	0.000015	T	0.27027	0.0662	M	0.66939	2.045	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	T	0.01102	-1.1451	10	0.72032	D	0.01	-52.896	19.7284	0.96174	0.0:0.0:1.0:0.0	.	138;138;138	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	W	138	ENSP00000369265:G138W;ENSP00000369270:G138W;ENSP00000420299:G138W;ENSP00000305560:G138W;ENSP00000335574:G138W;ENSP00000419511:G138W	ENSP00000335574:G138W	G	+	1	0	RREB1	7134541	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.162000	0.94745	2.668000	0.90789	0.591000	0.81541	GGG	.		0.597	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7189542	G	T	7189542	3	4	11	1	0	0	0	0	1	0	0	0	13724	1348	47	3	422	3	RREB1	6	7189542	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		7189542	163925525	47	1499											
HLA-B	3106	hgsc.bcm.edu	37	6	31322910	31322910	+	Missense_Mutation	SNP	G	G	A	rs74189305		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	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		.											HLA-B,NS,carcinoma,-1,4	HLA-B	-1	4	Substitution - Missense(4)	kidney(4)	c.C986T						.						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	46	2		54	3	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	.		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	11	1	0	0	0	0	1	0	0	0	7223	971	34	3	114	3	HLA-B	6	31322910	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	24133368	31322910	139792157	48	1500											
CYP21A2	1590	broad.mit.edu	37	6	31975463	31975463	+	5'Flank	SNP	T	T	C	rs370433041	byFrequency	TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194				.													.	CYP21A2	42	0			.						.																																			SO:0001631	upstream_gene_variant	0	.			CGACTGTAGGAGG																													6.37:g.31975463T>C	Exception_encountered	59	0		59	4	.		RNA	SNP	ENST00000594256.1	37																																																																																				.		0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				C	31975463	T	C	31975463	1	2	11	0	1	0	0	0	0	0	0	0	4162	1651	57	4		4	CYP21A2	6	31975463	5'Flank	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09	652553	31975463	139139604	49	1501											
UHRF1BP1	54887	hgsc.bcm.edu	37	6	34803196	34803196	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr6:34803196G>T	ENST00000192788.5	+	7	966	c.795G>T	c.(793-795)gaG>gaT	p.E265D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E265D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	265							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						AAGCCATGGAGAAGTCAGCCC	0.522																																					p.E265D		.											.	.	.	0			c.G795T						.						94	94	94					6																	34803196		2024	4182	6206	SO:0001583	missense	54887	exon7			CATGGAGAAGTCA	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.795G>T	6.37:g.34803196G>T	ENSP00000192788:p.Glu265Asp	24	0		45	4	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489454	0.84962	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.10668	2.85;2.85	4.57	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	M	0.74881	2.28	0.58432	D	0.999999	D	0.69078	0.997	P	0.58970	0.849	T	0.01432	-1.1356	10	0.87932	D	0	-13.8301	11.2309	0.48912	0.1518:0.0:0.8482:0.0	.	265	Q6BDS2	URFB1_HUMAN	D	265	ENSP00000192788:E265D;ENSP00000400628:E265D	ENSP00000192788:E265D	E	+	3	2	UHRF1BP1	34911174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.926000	0.56491	0.650000	0.30769	0.650000	0.86243	GAG	.		0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		T	34803196	G	T	34803196	3	4	11	1	0	0	0	0	1	0	0	0	17017	933	33	3	821	3	UHRF1BP1	6	34803196	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	2827733	34803196	136311871	50	1502											
C6orf203	51250	hgsc.bcm.edu	37	6	107361230	107361230	+	Missense_Mutation	SNP	G	G	T	rs373305216		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr6:107361230G>T	ENST00000405204.2	+	2	873	c.266G>T	c.(265-267)aGg>aTg	p.R89M	C6orf203_ENST00000311381.5_Missense_Mutation_p.R89M|C6orf203_ENST00000443043.1_Missense_Mutation_p.R94M|C6orf203_ENST00000489790.1_3'UTR	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	89						mitochondrion (GO:0005739)				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		AGTAATATAAGGTCTACAAAA	0.353																																					p.R94M		.											C6orf203,caecum,carcinoma,0,1	C6orf203	0	0			c.G281T						.						49	56	54					6																	107361230		2203	4300	6503	SO:0001583	missense	51250	exon3			ATATAAGGTCTAC	AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.266G>T	6.37:g.107361230G>T	ENSP00000384867:p.Arg89Met	48	0		35	2	NM_001142470	B3KRG9	Missense_Mutation	SNP	ENST00000405204.2	37	CCDS5058.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441680	0.43326	.	.	ENSG00000130349	ENST00000443043;ENST00000405204;ENST00000311381	T;T;T	0.29917	1.55;1.55;1.55	6.08	4.31	0.51392	.	0.327603	0.37304	N	0.002156	T	0.11367	0.0277	N	0.22421	0.69	0.22226	N	0.999273	P	0.39696	0.683	B	0.40329	0.326	T	0.04090	-1.0978	10	0.62326	D	0.03	-0.5333	12.82	0.57688	0.1317:0.0:0.8683:0.0	.	89	Q9P0P8	CF203_HUMAN	M	94;89;89	ENSP00000390153:R94M;ENSP00000384867:R89M;ENSP00000310951:R89M	ENSP00000310951:R89M	R	+	2	0	C6orf203	107467923	0.998000	0.40836	0.892000	0.35008	0.775000	0.43874	2.927000	0.48900	0.904000	0.36572	0.655000	0.94253	AGG	.		0.353	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487		T	107361230	G	T	107361230	3	4	11	1	0	0	0	0	1	0	0	0	2359	1000	35	3	287	3	C6orf203	6	107361230	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	72558034	107361230	63753837	51	1503											
PKD1L1	168507	hgsc.bcm.edu	37	7	47894505	47894505	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr7:47894505C>T	ENST00000289672.2	-	30	4884	c.4834G>A	c.(4834-4836)Gca>Aca	p.A1612T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1612					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						ACGGGAAATGCCCTTGTAACA	0.393																																					p.A1612T		.											.	.	.	0			c.G4834A						.						116	114	115					7																	47894505		2203	4300	6503	SO:0001583	missense	168507	exon30			GAAATGCCCTTGT	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.4834G>A	7.37:g.47894505C>T	ENSP00000289672:p.Ala1612Thr	31	0		92	4	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582317	0.28180	.	.	ENSG00000158683	ENST00000289672	T	0.22134	1.97	5.22	3.06	0.35304	.	0.436137	0.20220	N	0.096705	T	0.10723	0.0262	N	0.19112	0.55	0.09310	N	1	B	0.26876	0.162	B	0.24848	0.056	T	0.28650	-1.0037	10	0.15952	T	0.53	-9.0842	6.0706	0.19887	0.0:0.6663:0.1996:0.1341	.	1612	Q8TDX9	PK1L1_HUMAN	T	1612	ENSP00000289672:A1612T	ENSP00000289672:A1612T	A	-	1	0	PKD1L1	47861030	0.015000	0.18098	0.003000	0.11579	0.003000	0.03518	0.505000	0.22642	1.161000	0.42604	0.655000	0.94253	GCA	.		0.393	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47894505	C	T	47894505	3	4	11	1	0	0	0	0	1	0	0	0	12003	739	26	3	3827	3	PKD1L1	7	47894505	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		47894505	111244158	52	1504											
CNTNAP2	26047	hgsc.bcm.edu	37	7	147964169	147964169	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr7:147964169C>T	ENST00000361727.3	+	21	3942	c.3426C>T	c.(3424-3426)tcC>tcT	p.S1142S	CNTNAP2_ENST00000538075.1_Silent_p.S201S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1142	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			CAAGTTCATCCGACACCCTCT	0.438										HNSCC(39;0.1)																											p.S1142S		.											.	.	.	0			c.C3426T						.						212	184	194					7																	147964169		2203	4300	6503	SO:0001819	synonymous_variant	26047	exon21			TTCATCCGACACC	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.3426C>T	7.37:g.147964169C>T		38	0		69	4	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																			.		0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147964169	C	T	147964169	2	4	11	1	0	0	0	0	0	0	0	1	3654	639	23	1		1	CNTNAP2	7	147964169	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	100069664	147964169	11174494	53	1505											
GALNT11	63917	hgsc.bcm.edu	37	7	151818669	151818669	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr7:151818669C>T	ENST00000434507.1	+	14	2171	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C	GALNT11_ENST00000452146.2_Silent_p.C497C|GALNT11_ENST00000430044.2_Silent_p.C578C|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000320311.2_Silent_p.C578C			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	578	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)		TTGGACAGTGCCTGAGAGCAG	0.488																																					p.C578C		.											.	.	.	0			c.C1734T						.						117	100	106					7																	151818669		2203	4300	6503	SO:0001819	synonymous_variant	63917	exon12			ACAGTGCCTGAGA	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.1734C>T	7.37:g.151818669C>T		20	0		64	5	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	CCDS5930.1																																																																																			.		0.488	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		T	151818669	C	T	151818669	2	4	11	1	0	0	0	0	0	0	0	1	6234	747	26	3		3	GALNT11	7	151818669	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	3854500	151818669	7319994	54	1506											
DDHD2	23259	hgsc.bcm.edu	37	8	38117622	38117622	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr8:38117622G>T	ENST00000397166.2	+	17	2644	c.2119G>T	c.(2119-2121)Gat>Tat	p.D707Y	DDHD2_ENST00000517385.1_Missense_Mutation_p.D326Y|DDHD2_ENST00000520272.2_Missense_Mutation_p.D707Y|DDHD2_ENST00000529845.1_Missense_Mutation_p.D158Y	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	707					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D707N(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TATCTTCCTTGATCAGCCTTT	0.323																																					p.D707Y		.											DDHD2,colon,carcinoma,0,2	DDHD2	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2119T						.						135	131	133					8																	38117622		2203	4300	6503	SO:0001583	missense	23259	exon17			TTCCTTGATCAGC	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.2119G>T	8.37:g.38117622G>T	ENSP00000380352:p.Asp707Tyr	31	0		49	2	NM_001164232	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.787125|4.787125	0.90367|0.90367	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845;ENST00000528613|ENST00000526144	T;T|.	0.36520|.	1.25;1.25|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.178958|.	0.49305|.	D|.	0.000160|.	T|T	0.71517|0.71517	0.3349|0.3349	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70935|.	0.971|.	T|T	0.65307|0.65307	-0.6200|-0.6200	10|6	0.87932|0.10636	D|T	0|0.68	-24.2941|-24.2941	18.6525|18.6525	0.91435|0.91435	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	707|.	O94830|.	DDHD2_HUMAN|.	Y|F	707;707;326;158;75|208	ENSP00000380352:D707Y;ENSP00000429932:D707Y|.	ENSP00000380352:D707Y|ENSP00000437029:L208F	D|L	+|+	1|3	0|2	DDHD2|DDHD2	38236779|38236779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.680000|9.680000	0.98651|0.98651	2.650000|2.650000	0.89964|0.89964	0.655000|0.655000	0.94253|0.94253	GAT|TTG	.		0.323	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		T	38117622	G	T	38117622	3	4	11	1	0	0	0	0	1	0	0	0	4336	1290	45	3	2243	3	DDHD2	8	38117622	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		38117622	108246400	55	1507											
PXDNL	137902	broad.mit.edu;ucsc.edu	37	8	52321348	52321348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr8:52321348G>A	ENST00000356297.4	-	17	2936	c.2836C>T	c.(2836-2838)Cga>Tga	p.R946*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R946*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	946					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)				TGCTCCTGTCGCGCGCACTCG	0.647																																					p.R946X													PXDNL_ENST00000356297,NS,carcinoma,0,6	PXDNL	414	0			c.C2836T						.						14	16	16					8																	52321348		1961	4141	6102	SO:0001587	stop_gained	137902	exon17			CCTGTCGCGCGCA		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.2836C>T	8.37:g.52321348G>A	ENSP00000348645:p.Arg946*	10	0		18	4	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	37	6.117129	0.97296	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	3.8	-7.59	0.01308	.	1.153240	0.07191	U	0.855649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.349	0.26680	0.0:0.2922:0.3431:0.3647	.	.	.	.	X	946	.	ENSP00000348645:R946X	R	-	1	2	PXDNL	52483901	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.873000	0.04214	-1.741000	0.01344	-0.176000	0.13171	CGA	.		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52321348	G	A	52321348	4	1	11	1	0	0	0	0	0	1	0	0	12893	1095	38	1	1583	1	PXDNL	8	52321348	Nonsense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	14203726	52321348	94042674	56	1508											
MTSS1	9788	hgsc.bcm.edu	37	8	125568538	125568538	+	Missense_Mutation	SNP	C	C	T	rs371399134		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr8:125568538C>T	ENST00000518547.1	-	12	1812	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S	MTSS1_ENST00000325064.5_Missense_Mutation_p.G451S|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.G165S|MTSS1_ENST00000378017.3_Missense_Mutation_p.G422S|MTSS1_ENST00000431961.2_Missense_Mutation_p.G165S|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.G221S|MTSS1_ENST00000524090.1_Missense_Mutation_p.G337S	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	447					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)			GCAGGTGGGCCGCTGGCGGTA	0.632																																					p.G447S	Esophageal Squamous(160;622 1893 3862 8546 12509)	.											MTSS1,lower_third,carcinoma,0,1	MTSS1	0	0			c.G1339A						.	C	SER/GLY	0,4406		0,0,2203	80	67	72		1339	3.9	0.2	8		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTSS1	NM_014751.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	447/756	125568538	1,13005	2203	4300	6503	SO:0001583	missense	9788	exon12			GTGGGCCGCTGGC	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.1339G>A	8.37:g.125568538C>T	ENSP00000429064:p.Gly447Ser	32	0		37	3	NM_014751	J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.513966|2.513966	0.44763|0.44763	0.0|0.0	1.16E-4|1.16E-4	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090|ENST00000519168;ENST00000523179	T;T;T;T;T;T;T|.	0.29655|.	1.58;1.57;1.57;1.57;1.57;1.57;1.56|.	4.82|4.82	3.93|3.93	0.45458|0.45458	.|.	0.226650|.	0.37906|.	N|.	0.001884|.	T|T	0.20170|0.20170	0.0485|0.0485	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;D;P;B;B;P|.	0.54047|.	0.382;0.964;0.566;0.226;0.326;0.953|.	B;B;B;B;B;B|.	0.43990|.	0.043;0.147;0.027;0.028;0.021;0.438|.	T|T	0.13282|0.13282	-1.0515|-1.0515	10|5	0.06494|.	T|.	0.89|.	-21.6492|-21.6492	9.8547|9.8547	0.41079|0.41079	0.0:0.8407:0.0:0.1593|0.0:0.8407:0.0:0.1593	.|.	337;221;422;447;422;165|.	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2|.	.;.;.;MTSS1_HUMAN;.;.|.	S|Q	422;447;165;221;451;165;337|234;229	ENSP00000367256:G422S;ENSP00000429064:G447S;ENSP00000346119:G165S;ENSP00000378884:G221S;ENSP00000322804:G451S;ENSP00000393606:G165S;ENSP00000428319:G337S|.	ENSP00000322804:G451S|.	G|R	-|-	1|2	0|0	MTSS1|MTSS1	125637719|125637719	0.910000|0.910000	0.30920|0.30920	0.209000|0.209000	0.23619|0.23619	0.012000|0.012000	0.07955|0.07955	3.630000|3.630000	0.54273|0.54273	2.217000|2.217000	0.71921|0.71921	0.455000|0.455000	0.32223|0.32223	GGC|CGG	.		0.632	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		T	125568538	C	T	125568538	3	4	11	1	0	0	0	0	1	0	0	0	10000	652	23	1	940	1	MTSS1	8	125568538	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	73247190	125568538	20795484	57	1509											
TG	7038	hgsc.bcm.edu;bcgsc.ca	37	8	133885348	133885348	+	Missense_Mutation	SNP	G	G	T	rs370188499		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr8:133885348G>T	ENST00000220616.4	+	5	560	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W	TG_ENST00000377869.1_Missense_Mutation_p.G174W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	174	Thyroglobulin type-1 3. {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)		TCTTCTCCACGGGGTGGGAGA	0.423																																					p.G174W		.											.	.	.	0			c.G520T						.						104	93	97					8																	133885348		2203	4300	6503	SO:0001583	missense	7038	exon5			CTCCACGGGGTGG	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.520G>T	8.37:g.133885348G>T	ENSP00000220616:p.Gly174Trp	29	0		46	4	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110526	0.77210	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.82711	-1.64;-1.64	5.84	5.84	0.93424	Thyroglobulin type-1 (3);	0.000000	0.64402	D	0.000004	D	0.91862	0.7424	M	0.79926	2.475	0.47476	D	0.999435	D	0.89917	1.0	D	0.97110	1.0	D	0.92209	0.5774	10	0.87932	D	0	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	174	P01266	THYG_HUMAN	W	174	ENSP00000367100:G174W;ENSP00000220616:G174W	ENSP00000220616:G174W	G	+	1	0	TG	133954530	1.000000	0.71417	0.854000	0.33618	0.883000	0.51084	6.433000	0.73404	2.768000	0.95171	0.561000	0.74099	GGG	.		0.423	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133885348	G	T	133885348	3	4	11	1	0	0	0	0	1	0	0	0	15860	1116	39	2	538	2	TG	8	133885348	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	8316810	133885348	12478674	58	1510											
TSNARE1	203062	hgsc.bcm.edu	37	8	143436077	143436077	+	Nonsense_Mutation	SNP	G	G	T	rs570010659		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr8:143436077G>T	ENST00000307180.3	-	2	126	c.9C>A	c.(7-9)taC>taA	p.Y3*	TSNARE1_ENST00000520166.1_Nonsense_Mutation_p.Y3*|TSNARE1_ENST00000524325.1_Nonsense_Mutation_p.Y3*|TSNARE1_ENST00000519651.1_Nonsense_Mutation_p.Y3*	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	3					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)					CGATGGATCCGTATGACATCT	0.577																																					p.Y3X		.											.	.	.	0			c.C9A						.						37	36	37					8																	143436077		2203	4300	6503	SO:0001587	stop_gained	203062	exon2			GGATCCGTATGAC			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.9C>A	8.37:g.143436077G>T	ENSP00000303437:p.Tyr3*	47	0		61	4	NM_145003	B7ZLB0|Q14D03	Nonsense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767946	0.69878	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651;ENST00000520462;ENST00000518720	.	.	.	3.47	-6.93	0.01638	.	0.000000	0.30630	U	0.009201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2724	14.9512	0.71077	0.214:0.0:0.786:0.0	.	.	.	.	X	3;3;3;3;3;19	.	ENSP00000303437:Y3X	Y	-	3	2	TSNARE1	143433984	0.000000	0.05858	0.002000	0.10522	0.414000	0.31173	-0.743000	0.04845	-1.662000	0.01482	-0.471000	0.05019	TAC	.		0.577	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		T	143436077	G	T	143436077	4	4	11	1	0	0	0	0	0	1	0	0	16678	1140	40	2	1580	2	TSNARE1	8	143436077	Nonsense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	9550729	143436077	2927945	59	1511											
KDM4C	23081	broad.mit.edu	37	9	7170012	7170012	+	Intron	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:7170012G>T	ENST00000381309.3	+	21	3559				KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.C1039F	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						AAAAGCCAATGCAACATTTTC	0.393																																					p.C1039F													.	KDM4C	186	0			c.G3116T						.						54	48	50					9																	7170012		692	1591	2283	SO:0001627	intron_variant	23081	exon21			GCCAATGCAACAT	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+122G>T	9.37:g.7170012G>T		58	0		104	4	NM_001146694	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	8.176	0.792707	0.16327	.	.	ENSG00000107077	ENST00000381306	T	0.15487	2.42	3.88	-0.0734	0.13735	.	.	.	.	.	T	0.07908	0.0198	.	.	.	0.09310	N	1	B	0.22983	0.078	B	0.13407	0.009	T	0.38693	-0.9649	7	.	.	.	.	3.7822	0.08684	0.3185:0.1838:0.4977:0.0	.	1039	Q9H3R0-2	.	F	1039	ENSP00000370707:C1039F	.	C	+	2	0	KDM4C	7160012	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.560000	0.05964	-0.017000	0.14103	0.467000	0.42956	TGC	.		0.393	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		T	7170012	G	T	7170012	1	4	11	0	1	0	0	0	0	0	0	0	8157	1319	46	3		3	KDM4C	9	7170012	Intron	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		7170012	134043419	60	1512											
TAF1L	138474	hgsc.bcm.edu	37	9	32631851	32631851	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:32631851G>A	ENST00000242310.4	-	1	3816	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	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	1243					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)	p.R1243W(2)		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)		ATCCTCCGCCGTTCTTTCCGC	0.453																																					p.R1243W		.											TAF1L,NS,carcinoma,+2,2	TAF1L	+2	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C3727T						.						98	96	96					9																	32631851		2203	4300	6503	SO:0001583	missense	138474	exon1			TCCGCCGTTCTTT	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.3727C>T	9.37:g.32631851G>A	ENSP00000418379:p.Arg1243Trp	37	0		79	3	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265050	0.40095	.	.	ENSG00000122728	ENST00000242310	T	0.64260	-0.09	1.04	-0.675	0.11364	.	0.106321	0.64402	D	0.000005	T	0.59622	0.2207	L	0.29908	0.895	0.45528	D	0.99848	D	0.89917	1.0	D	0.71414	0.973	T	0.59369	-0.7467	10	0.87932	D	0	.	4.4056	0.11407	0.0:0.0:0.419:0.5809	.	1243	Q8IZX4	TAF1L_HUMAN	W	1243	ENSP00000418379:R1243W	ENSP00000418379:R1243W	R	-	1	2	TAF1L	32621851	1.000000	0.71417	0.784000	0.31847	0.128000	0.20619	1.695000	0.37763	0.507000	0.28148	0.195000	0.17529	CGG	.		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32631851	G	A	32631851	3	1	11	1	0	0	0	0	1	0	0	0	15570	1144	40	1	1757	1	TAF1L	9	32631851	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	25461839	32631851	108581580	61	1513											
MUSK	4593	hgsc.bcm.edu	37	9	113449410	113449410	+	Silent	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:113449410C>A	ENST00000374448.4	+	3	354	c.220C>A	c.(220-222)Cgg>Agg	p.R74R	MUSK_ENST00000189978.5_Silent_p.R74R|MUSK_ENST00000416899.2_Silent_p.R74R|MUSK_ENST00000374439.1_5'Flank|MUSK_ENST00000374440.3_5'UTR	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	74	Ig-like 1.				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)	p.R74R(1)		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						CTTTGACACCCGGTACAGCAT	0.468																																					p.R74R		.											MUSK,NS,carcinoma,0,1	MUSK	0	1	Substitution - coding silent(1)	endometrium(1)	c.C220A	GRCh37	CI043430	MUSK	I		.						135	136	136					9																	113449410		1957	4164	6121	SO:0001819	synonymous_variant	4593	exon3			GACACCCGGTACA	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.220C>A	9.37:g.113449410C>A		47	0		46	2	NM_001166281	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	CCDS48005.1																																																																																			.		0.468	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113449410	C	A	113449410	2	1	11	1	0	0	0	0	0	0	0	1	10027	643	23	2		2	MUSK	9	113449410	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	80817559	113449410	27764021	62	1514											
AKNA	80709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	117105995	117105995	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:117105995C>T	ENST00000307564.4	-	19	3911	c.3750G>A	c.(3748-3750)caG>caA	p.Q1250Q	AKNA_ENST00000374079.4_Silent_p.Q195Q|AKNA_ENST00000374075.5_Silent_p.Q1169Q|AKNA_ENST00000223791.3_Silent_p.Q710Q|AKNA_ENST00000374088.3_Silent_p.Q1250Q|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1250					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						TACCCGCATCCTGGGTCCTAA	0.587																																					p.Q1250Q		.											.	.	.	0			c.G3750A						.						65	63	64					9																	117105995		2203	4300	6503	SO:0001819	synonymous_variant	80709	exon19			CGCATCCTGGGTC	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.3750G>A	9.37:g.117105995C>T		17	0		50	17	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	3.544	-0.093140	0.07053	.	.	ENSG00000106948	ENST00000320310	.	.	.	4.06	3.15	0.36227	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.25960	N	0.982631	.	.	.	.	.	.	T	0.18555	-1.0333	5	0.02654	T	1	-7.0768	9.4402	0.38664	0.2101:0.7899:0.0:0.0	.	.	.	.	K	261	.	ENSP00000314538:R261K	R	-	2	0	AKNA	116145816	0.050000	0.20438	0.189000	0.23252	0.045000	0.14185	0.212000	0.17497	1.278000	0.44430	0.650000	0.86243	AGG	.		0.587	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117105995	C	T	117105995	2	4	11	1	0	0	0	0	0	0	0	1	463	680	24	3		3	AKNA	9	117105995	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	3656585	117105995	24107436	63	1515											
OR1B1	347169	hgsc.bcm.edu	37	9	125391702	125391702	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:125391702A>C	ENST00000304833.3	-	1	150	c.113T>G	c.(112-114)cTg>cGg	p.L38R	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	38						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						TATGGTGGTCAGGTAAATAGC	0.507																																					p.L38R		.											OR1B1,NS,lymphoid_neoplasm,0,1	OR1B1	0	0			c.T113G						.						96	88	91					9																	125391702		2203	4300	6503	SO:0001583	missense	347169	exon1			GTGGTCAGGTAAA	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.113T>G	9.37:g.125391702A>C	ENSP00000303151:p.Leu38Arg	24	0		41	2	NM_001004450	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827126	0.32329	.	.	ENSG00000171484	ENST00000304833	T	0.17691	2.26	4.59	4.59	0.56863	.	0.236164	0.21557	N	0.072636	T	0.53769	0.1817	H	0.97564	4.03	0.26816	N	0.968882	D	0.56746	0.977	P	0.62491	0.903	T	0.62329	-0.6877	10	0.87932	D	0	-6.0381	13.3902	0.60821	1.0:0.0:0.0:0.0	.	38	Q8NGR6	OR1B1_HUMAN	R	38	ENSP00000303151:L38R	ENSP00000303151:L38R	L	-	2	0	OR1B1	124431523	0.053000	0.20554	0.831000	0.32960	0.006000	0.05464	3.484000	0.53201	2.044000	0.60594	0.528000	0.53228	CTG	.		0.507	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		C	125391702	A	C	125391702	3	2	11	1	0	0	0	0	1	0	0	0	10990	188	7	4	846	4	OR1B1	9	125391702	Missense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	8285707	125391702	15821729	64	1516											
PDCL	5082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	125588973	125588973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:125588973G>A	ENST00000259467.4	-	2	259	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	32					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CATCTGCCTCGGTCCTTGTCC	0.552																																					p.R32X		.											PDCL,NS,carcinoma,0,1	PDCL	0	0			c.C94T						.						134	108	116					9																	125588973		2203	4300	6503	SO:0001587	stop_gained	5082	exon2			TGCCTCGGTCCTT	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.94C>T	9.37:g.125588973G>A	ENSP00000259467:p.Arg32*	29	0		57	19	NM_005388	Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Nonsense_Mutation	SNP	ENST00000259467.4	37	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.861001|1.861001	0.32884|0.32884	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000394285|ENST00000259467	.|.	.|.	.|.	5.7|5.7	-8.06|-8.06	0.01102|0.01102	.|.	.|0.785171	.|0.12689	.|N	.|0.447311	T|.	0.45716|.	0.1356|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53436|.	-0.8439|.	3|.	.|.	.|.	.|.	1.0069|1.0069	14.1403|14.1403	0.65316|0.65316	0.0:0.6665:0.1209:0.2126|0.0:0.6665:0.1209:0.2126	.|.	.|.	.|.	.|.	L|X	20|32	.|.	.|.	P|R	-|-	2|1	0|2	PDCL|PDCL	124628794|124628794	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.284000|-0.284000	0.08422|0.08422	-1.897000|-1.897000	0.01101|0.01101	-0.176000|-0.176000	0.13171|0.13171	CCG|CGA	.		0.552	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		A	125588973	G	A	125588973	4	1	11	1	0	0	0	0	0	1	0	0	11665	1124	39	1	823	1	PDCL	9	125588973	Nonsense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	197271	125588973	15624458	65	1517											
LAMC3	10319	hgsc.bcm.edu	37	9	133942411	133942411	+	Silent	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:133942411C>A	ENST00000361069.4	+	14	2545	c.2412C>A	c.(2410-2412)ccC>ccA	p.P804P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	804	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)	p.P804P(1)		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)		TTGGGCACCCCCAGCCCTGCC	0.642																																					p.P804P		.											LAMC3,NS,carcinoma,0,1	LAMC3	0	1	Substitution - coding silent(1)	lung(1)	c.C2412A						.						49	47	48					9																	133942411		2203	4300	6503	SO:0001819	synonymous_variant	10319	exon14			GCACCCCCAGCCC	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.2412C>A	9.37:g.133942411C>A		39	0		47	3	NM_006059	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																			.		0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133942411	C	A	133942411	2	1	11	1	0	0	0	0	0	0	0	1	8644	610	22	3		3	LAMC3	9	133942411	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	8353438	133942411	7271020	66	1518											
UBAC1	10422	hgsc.bcm.edu	37	9	138836946	138836946	+	Missense_Mutation	SNP	C	C	A	rs200169387		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr9:138836946C>A	ENST00000371756.3	-	7	1021	c.804G>T	c.(802-804)gaG>gaT	p.E268D	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	268					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTCTGGCCTCCTCATCGGTGG	0.627																																					p.E268D	NSCLC(78;973 1398 27381 29552 42415)	.											UBAC1,caecum,adenoma,0,1	UBAC1	0	0			c.G804T						.						126	111	116					9																	138836946		2203	4300	6503	SO:0001583	missense	10422	exon7			GGCCTCCTCATCG	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.804G>T	9.37:g.138836946C>A	ENSP00000360821:p.Glu268Asp	14	0		31	4	NM_016172	O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894972	0.33442	.	.	ENSG00000130560	ENST00000371756	T	0.26957	1.7	5.38	-0.852	0.10713	.	0.279835	0.38272	N	0.001757	T	0.22820	0.0551	M	0.71581	2.175	0.54753	D	0.999983	B	0.15141	0.012	B	0.12156	0.007	T	0.04855	-1.0922	10	0.36615	T	0.2	-22.0358	6.9949	0.24777	0.0:0.481:0.1161:0.4029	.	268	Q9BSL1	UBAC1_HUMAN	D	268	ENSP00000360821:E268D	ENSP00000360821:E268D	E	-	3	2	UBAC1	137976767	0.042000	0.20092	0.943000	0.38184	0.438000	0.31896	-0.646000	0.05403	0.008000	0.14787	0.655000	0.94253	GAG	.		0.627	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		A	138836946	C	A	138836946	3	1	11	1	0	0	0	0	1	0	0	0	16883	680	24	3	429	3	UBAC1	9	138836946	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	4894535	138836946	2376485	67	1519											
PRPF18	8559	hgsc.bcm.edu	37	10	13629126	13629126	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr10:13629126C>T	ENST00000378572.3	+	1	200	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	14					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						GAAGCGGCAGCTGGTGGAGGA	0.587																																					p.L14L		.											.	.	.	0			c.C40T						.						98	107	104					10																	13629126		2203	4300	6503	SO:0001819	synonymous_variant	8559	exon1			CGGCAGCTGGTGG	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.40C>T	10.37:g.13629126C>T		66	0		95	3	NM_003675	Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	CCDS7100.1																																																																																			.		0.587	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			T	13629126	C	T	13629126	2	4	11	1	0	0	0	0	0	0	0	1	12605	796	28	3		3	PRPF18	10	13629126	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		13629126	121905621	68	1520											
FGFR2	2263	hgsc.bcm.edu	37	10	123278298	123278299	+	Intron	INS	-	-	GAA			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr10:123278298_123278299insGAA	ENST00000358487.5	-	7	1212				FGFR2_ENST00000351936.6_Intron|FGFR2_ENST00000478859.1_Intron|FGFR2_ENST00000360144.3_In_Frame_Ins_p.239_240insF|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_In_Frame_Ins_p.328_329insF|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000346997.2_Intron|FGFR2_ENST00000369056.1_In_Frame_Ins_p.328_329insF|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_In_Frame_Ins_p.213_214insF	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2						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)	TCGGTCACATTGAACAGAGCCA	0.485		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																												p.N329delinsFN		.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	.	0			c.985_986insTTC						.																																			SO:0001627	intron_variant	2263	exon8	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	TCACATTGAACAG	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.939+1193->TTC	10.37:g.123278299_123278301dupGAA		28	0		60	44	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	In_Frame_Ins	INS	ENST00000358487.5	37	CCDS31298.1																																																																																			.		0.485	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		GAA	123278299	-	GAA	123278298	6	5	11	0	1	1	1	0	0	0	0	0	5888	1812	63	0		0	FGFR2	10	123278298	Intron	INS	-	TCGA-W5-AA2O-01A-11D-A417-09	109649172	123278298	12256449	69	1521											
MUC2	4583	bcgsc.ca	37	11	1092843	1092843	+	Silent	SNP	C	C	G			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:1092843C>G	ENST00000441003.2	+	30	4689	c.4662C>G	c.(4660-4662)ggC>ggG	p.G1554G	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.G1555G	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)	CACCCACCGGCACACAGACCC	0.632																																					p.G1554G													MUC2_ENST00000441003,trunk,malignant_melanoma,+1,2	MUC2	614	0			c.C4662G						.						88	119	108					11																	1092843		1875	3464	5339	SO:0001819	synonymous_variant	4583	exon30			CACCGGCACACAG	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.4662C>G	11.37:g.1092843C>G		238	1		375	12	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1092843	C	G	1092843	2	3	11	1	0	0	0	0	0	0	0	1	10013	697	25	5		5	MUC2	11	1092843	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		1092843	133913673	70	1522											
MUC2	4583	bcgsc.ca	37	11	1092890	1092890	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	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													MUC2_ENST00000441003,NS,carcinoma,-1,2	MUC2	614	0			c.C4709T						.						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	405	2		589	17	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	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092890	C	T	1092890	3	4	11	1	0	0	0	0	1	0	0	0	10013	507	18	3	4827	3	MUC2	11	1092890	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	47	1092890	133913626	71	1523											
EIF4G2	1982	hgsc.bcm.edu	37	11	10821765	10821765	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:10821765G>T	ENST00000526148.1	-	18	2501	c.1991C>A	c.(1990-1992)cCa>cAa	p.P664Q	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P664Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P664Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P626Q	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)		ACTTTCTAGTGGTTGAGCTAG	0.418																																					p.P664Q		.											.	.	.	0			c.C1991A						.						83	78	80					11																	10821765		2201	4294	6495	SO:0001583	missense	1982	exon18			TCTAGTGGTTGAG	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.1991C>A	11.37:g.10821765G>T	ENSP00000433664:p.Pro664Gln	30	0		71	4	NM_001172705		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713389	0.48517	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.76	5.76	0.90799	Initiation factor eIF-4 gamma, MA3 (1);Armadillo-type fold (1);	0.049398	0.85682	D	0.000000	T	0.38161	0.1030	L	0.39397	1.21	0.42286	D	0.992112	B;B	0.28998	0.23;0.23	B;B	0.19148	0.013;0.024	T	0.33445	-0.9868	9	0.52906	T	0.07	-5.4109	19.9731	0.97292	0.0:0.0:1.0:0.0	.	664;737	P78344;B4DZF2	IF4G2_HUMAN;.	Q	664;664;664;626;737;61;46	ENSP00000433664:P664Q;ENSP00000433371:P664Q;ENSP00000340281:P664Q;ENSP00000379778:P626Q;ENSP00000434815:P61Q	ENSP00000340281:P664Q	P	-	2	0	EIF4G2	10778341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.506000	0.81665	2.715000	0.92844	0.563000	0.77884	CCA	.		0.418	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		T	10821765	G	T	10821765	3	4	11	1	0	0	0	0	1	0	0	0	5053	1348	47	3	752	3	EIF4G2	11	10821765	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	9728875	10821765	124184751	72	1524											
MRGPRX1	259249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	18955600	18955600	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:18955600C>T	ENST00000302797.3	-	1	956	c.732G>A	c.(730-732)gtG>gtA	p.V244V	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	244					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						CTTCCCTGTCCACGTGGATCC	0.473																																					p.V244V		.											.	.	.	0			c.G732A						.						76	69	72					11																	18955600		2194	4287	6481	SO:0001819	synonymous_variant	259249	exon1			CCTGTCCACGTGG		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.732G>A	11.37:g.18955600C>T		55	0		92	27	NM_147199	Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	CCDS7846.1																																																																																			.		0.473	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		T	18955600	C	T	18955600	2	4	11	1	0	0	0	0	0	0	0	1	9804	581	21	3		3	MRGPRX1	11	18955600	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	8133835	18955600	116050916	73	1525											
C2CD3	26005	hgsc.bcm.edu;bcgsc.ca	37	11	73805030	73805030	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:73805030G>T	ENST00000334126.7	-	18	3401	c.3175C>A	c.(3175-3177)Ccc>Acc	p.P1059T	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1059T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1059					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)					GTTCTGAAGGGCTTCAGAGTA	0.403																																					p.P1059T		.											.	.	.	0			c.C3175A						.						98	93	95					11																	73805030		2200	4293	6493	SO:0001583	missense	26005	exon18			TGAAGGGCTTCAG	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.3175C>A	11.37:g.73805030G>T	ENSP00000334379:p.Pro1059Thr	45	0		54	5	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	G	16.10	3.026783	0.54683	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.43688	0.94;0.94	5.78	2.87	0.33458	.	0.104648	0.64402	D	0.000003	T	0.36936	0.0985	L	0.53249	1.67	0.38263	D	0.941946	B	0.25441	0.126	B	0.26864	0.074	T	0.31833	-0.9929	10	0.72032	D	0.01	-4.752	8.9636	0.35863	0.1348:0.1231:0.742:0.0	.	1059	Q4AC94-1	.	T	1059	ENSP00000334379:P1059T;ENSP00000323339:P1059T	ENSP00000323339:P1059T	P	-	1	0	C2CD3	73482678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.976000	0.49289	0.447000	0.26695	0.655000	0.94253	CCC	.		0.403	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73805030	G	T	73805030	3	4	11	1	0	0	0	0	1	0	0	0	2161	1203	42	3	2772	3	C2CD3	11	73805030	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	54849430	73805030	61201486	74	1526											
ME3	10873	bcgsc.ca	37	11	86157510	86157510	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:86157510C>A	ENST00000393324.3	-	12	1653	c.1400G>T	c.(1399-1401)aGt>aTt	p.S467I	ME3_ENST00000543262.1_Missense_Mutation_p.S467I|ME3_ENST00000359636.2_Missense_Mutation_p.S467I|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	467					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)				AGGACTTCCACTGGCAAAAAT	0.493																																					p.S467I													.	ME3	70	0			c.G1400T						.						59	51	54					11																	86157510		2202	4299	6501	SO:0001583	missense	10873	exon13			CTTCCACTGGCAA	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.1400G>T	11.37:g.86157510C>A	ENSP00000376998:p.Ser467Ile	39	0		18	3	NM_006680	B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824305	0.90955	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.34	5.34	0.76211	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81069	0.4746	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88102	0.2820	9	.	.	.	-7.0653	19.0315	0.92959	0.0:1.0:0.0:0.0	.	467	Q16798	MAON_HUMAN	I	467	ENSP00000352657:S467I;ENSP00000440246:S467I;ENSP00000376998:S467I;ENSP00000431182:S467I	.	S	-	2	0	ME3	85835158	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.619000	0.83057	2.478000	0.83669	0.650000	0.86243	AGT	.		0.493	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			A	86157510	C	A	86157510	3	1	11	1	0	0	0	0	1	0	0	0	9457	565	20	3	426	3	ME3	11	86157510	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	12352480	86157510	48849006	75	1527											
FAT3	120114	broad.mit.edu	37	11	92532860	92532860	+	Silent	SNP	T	T	C			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:92532860T>C	ENST00000298047.6	+	9	6698	c.6681T>C	c.(6679-6681)ccT>ccC	p.P2227P	FAT3_ENST00000525166.1_Silent_p.P2077P|FAT3_ENST00000409404.2_Silent_p.P2227P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2227	Cadherin 20. {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)				ATGGGGACCCTTTTAAACAGT	0.418										TCGA Ovarian(4;0.039)																											p.P2227P													FAT3_ENST00000409404,NS,carcinoma,+1,2	FAT3	1822	0			c.T6681C						.						52	50	51					11																	92532860		1907	4139	6046	SO:0001819	synonymous_variant	120114	exon9			GGACCCTTTTAAA	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.6681T>C	11.37:g.92532860T>C		44	0		50	4	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92532860	T	C	92532860	2	2	11	1	0	0	0	0	0	0	0	1	5713	1596	56	4		4	FAT3	11	92532860	Silent	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09	6375350	92532860	42473656	76	1528											
ATM	472	hgsc.bcm.edu	37	11	108205808	108205808	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:108205808A>T	ENST00000452508.2	+	56	8312	c.8123A>T	c.(8122-8124)gAt>gTt	p.D2708V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.D2708V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2708					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)	GTAGGTTCCGATGGCAAGGAG	0.378			"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.D2708V		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	ATM_ENST00000278616,colon,carcinoma,0,2	ATM_ENST00000278616	0	0			c.A8123T						.						103	102	102					11																	108205808		2201	4298	6499	SO:0001583	missense	472	exon55	Familial Cancer Database	AT, Louis-Bar syndrome	GTTCCGATGGCAA	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.8123A>T	11.37:g.108205808A>T	ENSP00000388058:p.Asp2708Val	53	0		73	3	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177275	0.78564	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.91180	-2.8;-2.8	5.67	5.67	0.87782	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98607	1.0661	10	0.87932	D	0	.	15.9192	0.79547	1.0:0.0:0.0:0.0	.	2708	Q13315	ATM_HUMAN	V	2708	ENSP00000278616:D2708V;ENSP00000388058:D2708V	ENSP00000278616:D2708V	D	+	2	0	ATM	107711018	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	8.624000	0.90961	2.164000	0.68074	0.533000	0.62120	GAT	.		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108205808	A	T	108205808	3	4	11	1	0	0	0	0	1	0	0	0	1110	333	12	5	8337	5	ATM	11	108205808	Missense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	15672948	108205808	26800708	77	1529											
RPUSD4	84881	hgsc.bcm.edu;bcgsc.ca	37	11	126079517	126079517	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr11:126079517C>T	ENST00000298317.4	-	3	509	c.456G>A	c.(454-456)ctG>ctA	p.L152L	FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000533050.1_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000360194.4_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.L152L|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	152					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)		TTTCCTTGTCCAGCCGGTGGC	0.532																																					p.L152L		.											.	.	.	0			c.G456A						.						238	220	226					11																	126079517		2201	4299	6500	SO:0001819	synonymous_variant	84881	exon3			CTTGTCCAGCCGG	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.456G>A	11.37:g.126079517C>T		40	0		47	4	NM_001144827	E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	CCDS8469.1																																																																																			.		0.532	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		T	126079517	C	T	126079517	2	4	11	1	0	0	0	0	0	0	0	1	13714	581	21	3		3	RPUSD4	11	126079517	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	17873709	126079517	8926999	78	1530											
WNK1	65125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	966367	966367	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:966367A>G	ENST00000315939.6	+	5	1995	c.1352A>G	c.(1351-1353)gAa>gGa	p.E451G	WNK1_ENST00000340908.4_Missense_Mutation_p.E44G|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000535572.1_Missense_Mutation_p.E451G|WNK1_ENST00000530271.2_Missense_Mutation_p.E451G|WNK1_ENST00000537687.1_Missense_Mutation_p.E451G	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GCAATTCCTGAAGTGAAGGAA	0.353																																					p.E451G	Colon(19;451 567 6672 12618 28860)	.											.	.	.	0			c.A1352G						.						97	94	95					12																	966367		2203	4300	6503	SO:0001583	missense	65125	exon5			TTCCTGAAGTGAA	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.1352A>G	12.37:g.966367A>G	ENSP00000313059:p.Glu451Gly	100	0		131	49	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.959266	0.92726	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;1.65	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088534	0.48767	N	0.000164	T	0.72953	0.3525	L	0.28344	0.845	0.52099	D	0.999946	D;D	0.69078	0.996;0.997	D;D	0.75020	0.975;0.985	T	0.76688	-0.2867	10	0.87932	D	0	-18.3997	16.2233	0.82274	1.0:0.0:0.0:0.0	.	451;451	F5GWT4;Q9H4A3	.;WNK1_HUMAN	G	451;451;451;451;44	ENSP00000441972:E451G;ENSP00000313059:E451G;ENSP00000444465:E451G;ENSP00000433548:E451G;ENSP00000341292:E44G	ENSP00000313059:E451G	E	+	2	0	WNK1	836628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.243000	0.73865	0.482000	0.46254	GAA	.		0.353	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		G	966367	A	G	966367	3	3	11	1	0	0	0	0	1	0	0	0	17426	246	9	4	1370	4	WNK1	12	966367	Missense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09		966367	132885528	79	1531											
ATN1	1822	hgsc.bcm.edu	37	12	7043191	7043191	+	Splice_Site	SNP	G	G	T	rs147637415		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:7043191G>T	ENST00000356654.4	+	2	264	c.27G>T	c.(25-27)tcG>tcT	p.S9S	ATN1_ENST00000396684.2_Splice_Site_p.S9S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	9					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						ATAAAGACTCGGTGAGTTAAA	0.483																																					p.S9S		.											.	.	.	0			c.G27T						.						39	39	39					12																	7043191		2203	4300	6503	SO:0001630	splice_region_variant	1822	exon2			AGACTCGGTGAGT	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.27+1G>T	12.37:g.7043191G>T		47	0		69	4	NM_001007026	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			.		0.483	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	Silent	T	7043191	G	T	7043191	5	4	11	1	0	0	0	0	0	0	1	0	1112	1130	39	2	29	2	ATN1	12	7043191	Splice_Site	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	6076824	7043191	126808704	80	1532											
SLCO1B3	28234	hgsc.bcm.edu	37	12	21033923	21033923	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:21033923G>A	ENST00000381545.3	+	12	1685	c.1466G>A	c.(1465-1467)tGc>tAc	p.C489Y	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C489Y|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.C489Y|LST3_ENST00000540229.1_Missense_Mutation_p.C489Y|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	489	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CTAGCAGGATGCAAATCCTCA	0.358																																					p.C489Y		.											.	.	.	0			c.G1466A						.						185	181	182					12																	21033923		2203	4300	6503	SO:0001583	missense	28234	exon12			CAGGATGCAAATC		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1466G>A	12.37:g.21033923G>A	ENSP00000370956:p.Cys489Tyr	57	0		98	5	NM_019844	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987999	0.35036	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	3.8	3.8	0.43715	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	0.38665	0.1049	H	0.98111	4.15	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	0.60010	-0.7346	10	0.87932	D	0	.	13.0188	0.58773	0.0:0.0:1.0:0.0	.	489;489;489	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	Y	489;489;489;313;489	ENSP00000261196:C489Y;ENSP00000370956:C489Y;ENSP00000451758:C489Y;ENSP00000443225:C313Y;ENSP00000441269:C489Y	ENSP00000441269:C489Y	C	+	2	0	SLCO1B3;RP11-545J16.1	20925190	1.000000	0.71417	0.937000	0.37676	0.100000	0.18952	7.490000	0.81461	2.115000	0.64714	0.467000	0.42956	TGC	.		0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		A	21033923	G	A	21033923	3	1	11	1	0	0	0	0	1	0	0	0	14769	1319	46	3	1504	3	SLCO1B3	12	21033923	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	13990732	21033923	112817972	81	1533											
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	43770341	43770341	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:43770341C>T	ENST00000389420.3	-	33	5110	c.5111G>A	c.(5110-5112)tGt>tAt	p.C1704Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1704	TSP type-1 15. {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)			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)		ATTGGCATAACATTTCTTTTG	0.328																																					p.C1704Y		.											.	.	.	0			c.G5111A						.						76	76	76					12																	43770341		2202	4300	6502	SO:0001583	missense	80070	exon33			GCATAACATTTCT	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.5111G>A	12.37:g.43770341C>T	ENSP00000374071:p.Cys1704Tyr	30	0		68	21	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402298	0.62288	.	.	ENSG00000173157	ENST00000389420	D	0.81659	-1.52	4.65	4.65	0.58169	.	0.000000	0.49305	D	0.000145	D	0.94486	0.8225	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97022	0.9744	10	0.87932	D	0	.	18.4103	0.90549	0.0:1.0:0.0:0.0	.	1704	P59510	ATS20_HUMAN	Y	1704	ENSP00000374071:C1704Y	ENSP00000374071:C1704Y	C	-	2	0	ADAMTS20	42056608	1.000000	0.71417	0.963000	0.40424	0.940000	0.58332	5.121000	0.64691	2.507000	0.84556	0.557000	0.71058	TGT	.		0.328	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43770341	C	T	43770341	3	4	11	1	0	0	0	0	1	0	0	0	266	478	17	3	648	3	ADAMTS20	12	43770341	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	22736418	43770341	90081554	82	1534											
MLL2	8085	hgsc.bcm.edu	37	12	49426567	49426632	+	In_Frame_Del	DEL	TGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	TGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	-	rs587778473|rs375458808|rs371224852|rs180784366	byFrequency	TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	TGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	TGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:49426567_49426632delTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	ENST00000301067.7	-	39	11855_11920	c.11856_11921delACAGCAGCTACAACAGCAACAGCAACAACAACAGCAGCAGTTTCAACAGCAGCAGCAACAGCAGCA	c.(11854-11922)caacagcagctacaacagcaacagcaacaacaacagcagcagtttcaacagcagcagcaacagcagcag>cag	p.3952_3974QQQLQQQQQQQQQQFQQQQQQQQ>Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3952	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)	p.Q3701*(3)|p.Q3971*(2)|p.Q3704*(1)|p.Q3974*(1)|p.Q3964*(1)|p.Q3699*(1)|p.Q3694*(1)									AAGGCCCATctgctgctgttgctgctgctgttgaaactgctgctgttgttgttgctgttgctgttgtagctgctgttgctgctgtt	0.511																																					p.3953_3974del		.											.	.	.	10	Substitution - Nonsense(10)	haematopoietic_and_lymphoid_tissue(9)|upper_aerodigestive_tract(1)	c.11857_11922del						.																																			SO:0001651	inframe_deletion	8085	exon39			CCCATCTGCTGCT	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.11856_11921delACAGCAGCTACAACAGCAACAGCAACAACAACAGCAGCAGTTTCAACAGCAGCAGCAACAGCAGCA	12.37:g.49426567_49426632delTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	ENSP00000301067:p.Gln3952_Gln3973del	24	0		54	0	NM_003482	O14687	In_Frame_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.511	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49426632	TGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	-	49426567	7	5	11	1	0	1	0	1	0	0	0	0	9659	1580	55	0	4756	0	MLL2	12	49426567	In_Frame_Del	DEL	TGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT	TCGA-W5-AA2O-01A-11D-A417-09	5656226	49426567	84425328	83	1535	6	2									
MLL2	8085	hgsc.bcm.edu	37	12	49426576	49426578	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:49426576_49426578delTGC	ENST00000301067.7	-	39	11909_11911	c.11910_11912delGCA	c.(11908-11913)cagcaa>caa	p.3970_3971QQ>Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3970	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)	p.Q3701*(3)|p.Q3971*(2)									ctgctgctgttgctgctgctgtt	0.517																																					p.3971_3971del		.											.	.	.	5	Substitution - Nonsense(5)	haematopoietic_and_lymphoid_tissue(5)	c.11911_11913del						.																																			SO:0001651	inframe_deletion	8085	exon39			TGCTGTTGCTGCT	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.11910_11912delGCA	12.37:g.49426582_49426584delTGC	ENSP00000301067:p.Gln3974del	24	0		49	10	NM_003482	O14687	In_Frame_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.517	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49426578	TGC	-	49426576	7	5	11	1	0	1	0	1	0	0	0	0	9659	1812	63	0	4765	0	MLL2	12	49426576	In_Frame_Del	DEL	TGC	TCGA-W5-AA2O-01A-11D-A417-09	9	49426576	84425319	84	1536	6	2									
MLL2	8085	hgsc.bcm.edu	37	12	49426590	49426592	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	AAA	AAA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:49426590_49426592delAAA	ENST00000301067.7	-	39	11895_11897	c.11896_11898delTTT	c.(11896-11898)tttdel	p.F3966del	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3966	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)										gctgctgttgaaactgctgctgt	0.517																																					p.3966_3967del		.											.	.	.	0			c.11897_11899del						.																																			SO:0001651	inframe_deletion	8085	exon39			CTGTTGAAACTGC	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.11896_11898delTTT	12.37:g.49426590_49426592delAAA	ENSP00000301067:p.Phe3966del	20	0		43	11	NM_003482	O14687	In_Frame_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.517	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49426592	AAA	-	49426590	7	5	11	1	0	1	0	1	0	0	0	0	9659	243	9	0	4779	0	MLL2	12	49426590	In_Frame_Del	DEL	AAA	TCGA-W5-AA2O-01A-11D-A417-09	14	49426590	84425305	85	1537											
KCNH3	23416	hgsc.bcm.edu	37	12	49935525	49935525	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:49935525C>T	ENST00000257981.6	+	3	683	c.423C>T	c.(421-423)ggC>ggT	p.G141G	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	141	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				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)	p.D143fs*65(1)		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						ACCGAGGGGGCCCCGACAGAT	0.587																																					p.G141G		.											KCNH3,NS,carcinoma,+2,1	KCNH3	+2	1	Deletion - Frameshift(1)	lung(1)	c.C423T						.						129	144	139					12																	49935525		2203	4300	6503	SO:0001819	synonymous_variant	23416	exon3			AGGGGGCCCCGAC	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.423C>T	12.37:g.49935525C>T		40	0		68	3	NM_012284	Q9UQ06	Silent	SNP	ENST00000257981.6	37	CCDS8786.1																																																																																			.		0.587	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		T	49935525	C	T	49935525	2	4	11	1	0	0	0	0	0	0	0	1	8060	726	26	3		3	KCNH3	12	49935525	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	508935	49935525	83916370	86	1538											
KRT1	3848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53070970	53070970	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:53070970T>G	ENST00000252244.3	-	6	1187		c.e6-2			NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1						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						CTCTTCATACTAAAGATGGTA	0.428																																					.		.											.	.	.	0			c.1129-2A>C						.						130	124	126					12																	53070970		2203	4300	6503	SO:0001630	splice_region_variant	3848	exon7			TCATACTAAAGAT	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.1129-2A>C	12.37:g.53070970T>G		22	0		52	19	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Splice_Site	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050218	0.55218	.	.	ENSG00000167768	ENST00000252244	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3995	0.67034	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT1	51357237	1.000000	0.71417	0.974000	0.42286	0.734000	0.41952	5.544000	0.67231	2.062000	0.61559	0.397000	0.26171	.	.		0.428	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	Intron	G	53070970	T	G	53070970	5	3	11	1	0	0	0	0	0	0	1	0	8474	1536	53	4	823	4	KRT1	12	53070970	Splice_Site	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09	3135445	53070970	80780925	87	1539											
OR6C3	254786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	55725675	55725675	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:55725675C>A	ENST00000379667.1	+	1	191	c.191C>A	c.(190-192)tCt>tAt	p.S64Y		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	64					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(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CGGAACTTCTCTTTCTTAGAA	0.413																																					p.S64Y		.											.	.	.	0			c.C191A						.						109	120	116					12																	55725675		2203	4300	6503	SO:0001583	missense	254786	exon1			ACTTCTCTTTCTT	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.191C>A	12.37:g.55725675C>A	ENSP00000368989:p.Ser64Tyr	36	0		81	33	NM_054104		Missense_Mutation	SNP	ENST00000379667.1	37	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501854	0.64298	.	.	ENSG00000205329	ENST00000379667	T	0.12361	2.69	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.141578	0.32769	N	0.005668	T	0.56396	0.1982	H	0.99286	4.5	0.28744	N	0.901838	D	0.63880	0.993	D	0.64042	0.921	T	0.70439	-0.4871	10	0.87932	D	0	.	18.0415	0.89320	0.0:1.0:0.0:0.0	.	64	Q9NZP0	OR6C3_HUMAN	Y	64	ENSP00000368989:S64Y	ENSP00000368989:S64Y	S	+	2	0	OR6C3	54011942	0.039000	0.19947	0.979000	0.43373	0.957000	0.61999	3.239000	0.51360	2.665000	0.90641	0.461000	0.40582	TCT	.		0.413	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			A	55725675	C	A	55725675	3	1	11	1	0	0	0	0	1	0	0	0	11231	913	32	3	193	3	OR6C3	12	55725675	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	2654705	55725675	78126220	88	1540											
DGKA	1606	bcgsc.ca	37	12	56347156	56347156	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:56347156C>A	ENST00000331886.5	+	23	2540	c.2086C>A	c.(2086-2088)Caa>Aaa	p.Q696K	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.Q696K|DGKA_ENST00000551156.1_Missense_Mutation_p.Q696K	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	696					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)	CCTTCCCATGCAAATTGACGG	0.468																																					p.Q696K													.	DGKA	70	0			c.C2086A						.						260	256	257					12																	56347156		2203	4300	6503	SO:0001583	missense	1606	exon23			CCCATGCAAATTG	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.2086C>A	12.37:g.56347156C>A	ENSP00000328405:p.Gln696Lys	31	0		71	4	NM_201554	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035663	0.93630	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	T;T;T	0.52295	0.67;0.67;0.67	4.71	4.71	0.59529	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84968	0.0881	10	0.87932	D	0	.	16.8197	0.85742	0.0:1.0:0.0:0.0	.	696	P23743	DGKA_HUMAN	K	696	ENSP00000328405:Q696K;ENSP00000377703:Q696K;ENSP00000450359:Q696K	ENSP00000328405:Q696K	Q	+	1	0	DGKA	54633423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.380000	0.79704	2.312000	0.78011	0.561000	0.74099	CAA	.		0.468	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			A	56347156	C	A	56347156	3	1	11	1	0	0	0	0	1	0	0	0	4479	711	25	3	2172	3	DGKA	12	56347156	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	621481	56347156	77504739	89	1541											
XRCC6BP1	91419	hgsc.bcm.edu	37	12	58340779	58340779	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:58340779G>T	ENST00000300145.3	+	3	360	c.235G>T	c.(235-237)Gct>Tct	p.A79S		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	79					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						GCCTTTTAGTGCTGTTAACAA	0.438																																					p.A79S		.											.	.	.	0			c.G235T						.						185	171	175					12																	58340779		1907	4127	6034	SO:0001630	splice_region_variant	91419	exon3			TTTAGTGCTGTTA	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.234-1G>T	12.37:g.58340779G>T		34	0		80	4	NM_033276	Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545701	0.27652	.	.	ENSG00000166896	ENST00000300145	T	0.42131	0.98	5.58	4.67	0.58626	Metallopeptidase, catalytic domain (1);	0.296568	0.40554	N	0.001073	T	0.23014	0.0556	N	0.20401	0.57	0.30047	N	0.812126	B	0.22146	0.065	B	0.18561	0.022	T	0.09885	-1.0654	10	0.16420	T	0.52	-2.069	7.0194	0.24907	0.2385:0.0:0.7615:0.0	.	79	Q9Y6H3	ATP23_HUMAN	S	79	ENSP00000300145:A79S	ENSP00000300145:A79S	A	+	1	0	XRCC6BP1	56627046	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.227000	0.42972	2.793000	0.96121	0.655000	0.94253	GCT	.		0.438	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276	Missense_Mutation	T	58340779	G	T	58340779	5	4	11	1	0	0	0	0	0	0	1	0	17507	1333	46	3	245	3	XRCC6BP1	12	58340779	Splice_Site	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	1993623	58340779	75511116	90	1542											
TMED2	10959	hgsc.bcm.edu;bcgsc.ca	37	12	124071376	124071376	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:124071376G>T	ENST00000262225.3	+	2	369	c.263G>T	c.(262-264)gGa>gTa	p.G88V	TMED2_ENST00000509052.2_Missense_Mutation_p.G3V|RP11-486O12.2_ENST00000498967.2_lincRNA	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	88	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CACATGGATGGAACATACAAA	0.403																																					p.G88V		.											.	.	.	0			c.G263T						.						93	84	87					12																	124071376		2203	4300	6503	SO:0001583	missense	10959	exon2			TGGATGGAACATA	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.263G>T	12.37:g.124071376G>T	ENSP00000262225:p.Gly88Val	55	0		91	4	NM_006815		Missense_Mutation	SNP	ENST00000262225.3	37	CCDS9250.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965534	0.74131	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000432022;ENST00000509052	D;D;D	0.82344	-1.6;-1.6;-1.6	4.82	4.82	0.62117	GOLD (3);	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97434	1.0017	10	0.87932	D	0	-33.9649	18.268	0.90057	0.0:0.0:1.0:0.0	.	88	Q15363	TMED2_HUMAN	V	88;88;56;3	ENSP00000262225:G88V;ENSP00000405845:G88V;ENSP00000441161:G3V	ENSP00000262225:G88V	G	+	2	0	TMED2	122637329	1.000000	0.71417	0.978000	0.43139	0.427000	0.31564	9.860000	0.99555	2.389000	0.81357	0.555000	0.69702	GGA	.		0.403	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815		T	124071376	G	T	124071376	3	4	11	1	0	0	0	0	1	0	0	0	16051	1174	41	3	269	3	TMED2	12	124071376	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	65730597	124071376	9780519	91	1543											
TMEM132D	121256	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	130184567	130184568	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	TG	TG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:130184567_130184568TG>CC	ENST00000422113.2	-	2	1081_1082	c.755_756CA>GG	c.(754-756)aCA>aGG	p.T252R	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	252					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)		CACTGTGGCCTGTCCGGATCCC	0.619																																					p.T252R		.											TMEM132D,right_lower_lobe,carcinoma,0,1	TMEM132D	0	0			c.C755G						.																																			SO:0001583	missense	121256	exon2			TGGCCTGTCCGGA	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.755_756delinsCC	12.37:g.130184567_130184568delinsCC	ENSP00000408581:p.Thr252Arg	30	0		40	13	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	DNP	ENST00000422113.2	37	CCDS9266.1																																																																																			.		0.619	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		CC	130184568	TG	CC	130184567	3	2	11	1	0	0	0	0	1	0	0	0	16094	1567	55	4	2575	4	TMEM132D	12	130184567	Missense_Mutation	DNP	TG	TCGA-W5-AA2O-01A-11D-A417-09	6113191	130184567	3667328	92	1544											
EP400	57634	hgsc.bcm.edu	37	12	132547144	132547144	+	Silent	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr12:132547144G>A	ENST00000333577.4	+	48	8449	c.8340G>A	c.(8338-8340)caG>caA	p.Q2780Q	EP400_ENST00000389562.2_Silent_p.Q2743Q|EP400_ENST00000389561.2_Silent_p.Q2744Q|EP400_ENST00000330386.6_Silent_p.Q2663Q|EP400_ENST00000332482.4_Silent_p.Q2707Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2780	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)			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)		agcaacagcagcagcagcaac	0.607																																					p.Q2744Q		.											EP400,NS,carcinoma,0,1	EP400	0	0			c.G8232A						.						56	45	49					12																	132547144		2203	4300	6503	SO:0001819	synonymous_variant	57634	exon47			ACAGCAGCAGCAG	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.8340G>A	12.37:g.132547144G>A		22	1		55	7	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				.		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547144	G	A	132547144	2	1	11	1	0	0	0	0	0	0	0	1	5165	962	34	3		3	EP400	12	132547144	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	2362577	132547144	1304751	93	1545											
SAP18	10284	broad.mit.edu	37	13	21714709	21714709	+	5'Flank	SNP	C	C	T	rs368287644		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr13:21714709C>T	ENST00000607003.1	+	0	0				SNORD27_ENST00000516319.1_RNA|RN7SL80P_ENST00000580631.1_RNA|SAP18_ENST00000382533.4_Silent_p.V6V			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa						mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CTGCAGGGGTCGGAGGTCAGG	0.632																																					p.V6V													.	SAP18	12	0			c.C18T						.	C		3,4399		0,3,2198	28	27	27		18	5.5	1	13		27	1,8595		0,1,4297	no	coding-synonymous	SAP18	NM_005870.4		0,4,6495	TT,TC,CC		0.0116,0.0682,0.0308		6/173	21714709	4,12994	2201	4298	6499	SO:0001631	upstream_gene_variant	10284	exon1			AGGGGTCGGAGGT	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535		13.37:g.21714709C>T	Exception_encountered	21	0		15	4	NM_005870	B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Silent	SNP	ENST00000607003.1	37																																																																																				.		0.632	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		T	21714709	C	T	21714709	1	4	11	0	1	0	0	0	0	0	0	0	13877	871	31	1		1	SAP18	13	21714709	5'Flank	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		21714709	93455169	94	1546											
FRY	10129	hgsc.bcm.edu	37	13	32653148	32653148	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr13:32653148G>T	ENST00000380250.3	+	2	744	c.248G>T	c.(247-249)cGt>cTt	p.R83L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	83						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)		CGCAAGATTCGTATCATTATG	0.413																																					p.R83L		.											.	.	.	0			c.G248T						.						181	177	178					13																	32653148		1937	4142	6079	SO:0001583	missense	10129	exon2			AGATTCGTATCAT	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.248G>T	13.37:g.32653148G>T	ENSP00000369600:p.Arg83Leu	70	0		54	4	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844333	0.91197	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.22945	1.93	5.83	4.96	0.65561	.	0.055722	0.85682	D	0.000000	T	0.28928	0.0718	M	0.65975	2.015	0.80722	D	1	P	0.34826	0.471	B	0.31390	0.129	T	0.08310	-1.0728	10	0.59425	D	0.04	.	14.1144	0.65144	0.0746:0.0:0.9254:0.0	.	83	Q5TBA9	FRY_HUMAN	L	83;80	ENSP00000369600:R83L	ENSP00000369600:R83L	R	+	2	0	FRY	31551148	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.310000	0.78947	1.412000	0.46977	0.655000	0.94253	CGT	.		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32653148	G	T	32653148	3	4	11	1	0	0	0	0	1	0	0	0	6087	1145	40	2	254	2	FRY	13	32653148	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	10938439	32653148	82516730	95	1547											
CSNK1A1L	122011	hgsc.bcm.edu	37	13	37678436	37678436	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr13:37678436G>T	ENST00000379800.3	-	1	1367	c.958C>A	c.(958-960)Caa>Aaa	p.Q320K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	320					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.Q320K(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)		GTCTGGGTTTGGGCCTGCTGA	0.468																																					p.Q320K		.											CSNK1A1L,NS,carcinoma,0,1	CSNK1A1L	0	1	Substitution - Missense(1)	lung(1)	c.C958A						.						154	148	150					13																	37678436		2203	4300	6503	SO:0001583	missense	122011	exon1			GGGTTTGGGCCTG	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.958C>A	13.37:g.37678436G>T	ENSP00000369126:p.Gln320Lys	30	0		43	2	NM_145203	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242345	0.22796	.	.	ENSG00000180138	ENST00000379800	T	0.08807	3.05	1.01	0.0897	0.14460	.	.	.	.	.	T	0.04770	0.0129	N	0.19112	0.55	0.26743	N	0.970352	P	0.36392	0.551	B	0.40602	0.334	T	0.32981	-0.9886	9	0.06625	T	0.88	.	5.1036	0.14772	0.2355:0.0:0.7645:0.0	.	320	Q8N752	KC1AL_HUMAN	K	320	ENSP00000369126:Q320K	ENSP00000369126:Q320K	Q	-	1	0	CSNK1A1L	36576436	1.000000	0.71417	0.024000	0.17045	0.071000	0.16799	6.275000	0.72594	-0.013000	0.14199	0.561000	0.74099	CAA	.		0.468	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		T	37678436	G	T	37678436	3	4	11	1	0	0	0	0	1	0	0	0	3960	1357	47	3	59	3	CSNK1A1L	13	37678436	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	5025288	37678436	77491442	96	1548											
AKAP11	11215	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	42873939	42873939	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr13:42873939A>C	ENST00000025301.2	+	8	1232	c.1057A>C	c.(1057-1059)Agt>Cgt	p.S353R		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	353					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)		CTCAGAAGTAAGTGAATTTTT	0.363																																					p.S353R		.											.	.	.	0			c.A1057C						.						37	38	38					13																	42873939		2202	4297	6499	SO:0001583	missense	11215	exon8			GAAGTAAGTGAAT	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.1057A>C	13.37:g.42873939A>C	ENSP00000025301:p.Ser353Arg	55	0		86	49	NM_016248	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311757	0.60414	.	.	ENSG00000023516	ENST00000025301	T	0.26518	1.73	5.44	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.64997	1.995	0.58432	D	0.999993	D	0.89917	1.0	D	0.72625	0.978	T	0.44952	-0.9294	10	0.87932	D	0	.	11.9069	0.52717	0.9283:0.0:0.0717:0.0	.	353	Q9UKA4	AKA11_HUMAN	R	353	ENSP00000025301:S353R	ENSP00000025301:S353R	S	+	1	0	AKAP11	41771939	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.869000	0.69613	2.182000	0.69389	0.482000	0.46254	AGT	.		0.363	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		C	42873939	A	C	42873939	3	2	11	1	0	0	0	0	1	0	0	0	447	72	3	4	1079	4	AKAP11	13	42873939	Missense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	5195503	42873939	72295939	97	1549											
DNAJC3	5611	hgsc.bcm.edu	37	13	96412357	96412357	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr13:96412357C>A	ENST00000602402.1	+	6	727	c.610C>A	c.(610-612)Cct>Act	p.P204T	DNAJC3_ENST00000376795.6_Missense_Mutation_p.P153T	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	204					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGAAGGAGAACCTAGGAAAGC	0.358																																					p.P204T		.											DNAJC3,NS,carcinoma,0,1	DNAJC3	0	0			c.C610A						.						117	117	117					13																	96412357		2203	4300	6503	SO:0001583	missense	5611	exon6			GGAGAACCTAGGA	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.610C>A	13.37:g.96412357C>A	ENSP00000473631:p.Pro204Thr	55	0		46	2	NM_006260	Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019308	0.35606	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.102726	0.64402	D	0.000002	T	0.58395	0.2119	L	0.40543	1.245	0.58432	D	0.999997	B;B	0.32160	0.358;0.358	B;B	0.36186	0.219;0.219	T	0.53019	-0.8497	9	0.23302	T	0.38	-14.3817	19.5168	0.95168	0.0:1.0:0.0:0.0	.	204;204	A8KA82;Q13217	.;DNJC3_HUMAN	T	204	.	ENSP00000365991:P204T	P	+	1	0	DNAJC3	95210358	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.513000	0.53414	2.609000	0.88269	0.561000	0.74099	CCT	.		0.358	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			A	96412357	C	A	96412357	3	1	11	1	0	0	0	0	1	0	0	0	4661	507	18	3	632	3	DNAJC3	13	96412357	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	53538418	96412357	18757521	98	1550											
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619480	+	Missense_Mutation	SNP	T	T	C	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr14:53619480T>C	ENST00000323669.5	-	1	336	c.337A>G	c.(337-339)Agc>Ggc	p.S113G	DDHD1_ENST00000357758.3_Missense_Mutation_p.S113G|DDHD1_ENST00000395606.1_Missense_Mutation_p.S113G|RP11-547D23.1_ENST00000554235.1_RNA|AL356020.1_ENST00000584587.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	113					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCG	0.701																																					p.S113G		.											.,102	.	202	0			c.A337G						.						6	8	7					14																	53619480		1971	3847	5818	SO:0001583	missense	80821	exon1			AGGAGCTGCCGCC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.337A>G	14.37:g.53619480T>C	ENSP00000327104:p.Ser113Gly	13	0		22	0	NM_001160147	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006520	0.54361	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.77	2.61	0.31194	.	0.746995	0.12231	N	0.487421	T	0.35566	0.0936	N	0.22421	0.69	0.20975	N	0.999816	P;B;P	0.52577	0.954;0.0;0.954	D;B;D	0.66351	0.916;0.0;0.943	T	0.17167	-1.0378	9	0.18276	T	0.48	-5.0646	3.2899	0.06945	0.0:0.2878:0.2128:0.4994	.	113;113;113	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	G	113	.	ENSP00000327104:S113G	S	-	1	0	DDHD1	52689230	.	.	0.767000	0.31495	0.958000	0.62258	.	.	0.510000	0.28216	0.374000	0.22700	AGC	.		0.701	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			C	53619480	T	C	53619480	3	2	11	1	0	0	0	0	1	0	0	0	4335	1580	55	4	2442	4	DDHD1	14	53619480	Missense_Mutation	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09		53619480	53730060	99	1551											
ZFP106	64397	hgsc.bcm.edu	37	15	42740764	42740764	+	Silent	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr15:42740764G>T	ENST00000263805.4	-	3	2898	c.2572C>A	c.(2572-2574)Cga>Aga	p.R858R	ZNF106_ENST00000565380.1_Silent_p.R86R|ZNF106_ENST00000565611.1_Silent_p.R43R	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	858					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)	p.R858*(1)									GAAAGGCTTCGCTTTCTTGCC	0.498																																					p.R858R		.											ZFP106,caecum,carcinoma,0,1	ZFP106	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2572A						.						66	61	63					15																	42740764		2203	4299	6502	SO:0001819	synonymous_variant	64397	exon3			GGCTTCGCTTTCT	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.2572C>A	15.37:g.42740764G>T		50	0		59	4	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																			.		0.498	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		T	42740764	G	T	42740764	2	4	11	1	0	0	0	0	0	0	0	1	17685	1095	38	2		2	ZFP106	15	42740764	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		42740764	59790628	100	1552											
CDAN1	146059	broad.mit.edu	37	15	43028860	43028860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr15:43028860delG	ENST00000356231.3	-	2	232	c.209delC	c.(208-210)ccgfs	p.P70fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	70					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)		GGCGGGGGTCGGGGGCCCCTG	0.736																																					p.P70fs													.	CDAN1	70	0			c.209delC						.						3	3	3					15																	43028860		1461	3168	4629	SO:0001589	frameshift_variant	146059	exon2			GGGGTCGGGGGCC	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.209delC	15.37:g.43028860delG	ENSP00000348564:p.Pro70fs	6	0		9	3	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Frame_Shift_Del	DEL	ENST00000356231.3	37	CCDS32209.1																																																																																			.		0.736	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		-	43028860	G	-	43028860	7	5	11	1	0	1	0	1	0	0	0	0	3061	1116	39	0	3582	0	CDAN1	15	43028860	Frame_Shift_Del	DEL	G	TCGA-W5-AA2O-01A-11D-A417-09	288096	43028860	59502532	101	1553											
SQRDL	58472	hgsc.bcm.edu;broad.mit.edu	37	15	45954270	45954270	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr15:45954270G>T	ENST00000260324.7	+	3	738	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.V118L|SQRDL_ENST00000568606.1_Missense_Mutation_p.V118L	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	118					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CAAAGCTAGAGTGACTGAGTT	0.463																																					p.V118L		.											.	.	.	0			c.G352T						.						132	112	119					15																	45954270		2198	4297	6495	SO:0001583	missense	58472	exon3			GCTAGAGTGACTG	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.352G>T	15.37:g.45954270G>T	ENSP00000260324:p.Val118Leu	54	0		98	4	NM_021199	Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563683	0.86335	.	.	ENSG00000137767	ENST00000260324	T	0.44881	0.91	5.14	5.14	0.70334	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.056920	0.64402	D	0.000001	T	0.65291	0.2677	M	0.87328	2.875	0.80722	D	1	P	0.34522	0.455	P	0.49477	0.612	T	0.69228	-0.5200	10	0.66056	D	0.02	-11.2177	17.346	0.87309	0.0:0.0:1.0:0.0	.	118	Q9Y6N5	SQRD_HUMAN	L	118	ENSP00000260324:V118L	ENSP00000260324:V118L	V	+	1	0	SQRDL	43741562	1.000000	0.71417	0.322000	0.25334	0.824000	0.46624	7.407000	0.80029	2.665000	0.90641	0.655000	0.94253	GTG	.		0.463	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			T	45954270	G	T	45954270	3	4	11	1	0	0	0	0	1	0	0	0	15176	1029	36	3	358	3	SQRDL	15	45954270	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	2925410	45954270	56577122	102	1554											
MYO9A	4649	hgsc.bcm.edu	37	15	72338441	72338441	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr15:72338441G>A	ENST00000356056.5	-	2	936	c.464C>T	c.(463-465)cCt>cTt	p.P155L	RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.P155L|MYO9A_ENST00000444904.1_Missense_Mutation_p.P155L|MYO9A_ENST00000564571.1_Missense_Mutation_p.P155L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	155	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						ATTCAAATCAGGTAAACTACA	0.378																																					p.P155L		.											.	.	.	0			c.C464T						.						79	81	80					15																	72338441		2199	4297	6496	SO:0001583	missense	4649	exon2			AAATCAGGTAAAC	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.464C>T	15.37:g.72338441G>A	ENSP00000348349:p.Pro155Leu	44	0		95	4	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	g	28.0	4.879978	0.91740	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87103	-2.21;-2.21;-2.21	5.79	5.79	0.91817	Myosin head, motor domain (2);	.	.	.	.	D	0.94331	0.8178	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.994	D	0.94384	0.7607	9	0.87932	D	0	.	20.1027	0.97880	0.0:0.0:1.0:0.0	.	155;155;155	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	L	155	ENSP00000348349:P155L;ENSP00000399162:P155L;ENSP00000398250:P155L	ENSP00000261864:P155L	P	-	2	0	MYO9A	70125495	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.768000	0.98965	2.745000	0.94114	0.644000	0.83932	CCT	.		0.378	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		A	72338441	G	A	72338441	3	1	11	1	0	0	0	0	1	0	0	0	10122	1000	35	3	7346	3	MYO9A	15	72338441	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	26384171	72338441	30192951	103	1555											
PPL	5493	hgsc.bcm.edu	37	16	4935049	4935049	+	Silent	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr16:4935049G>T	ENST00000345988.2	-	22	3696	c.3607C>A	c.(3607-3609)Cgg>Agg	p.R1203R	PPL_ENST00000590782.2_Silent_p.R1201R	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1203					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						TCGGCACCCCGGTACTTTCGC	0.632																																					p.R1203R		.											PPL,NS,carcinoma,0,2	PPL	0	0			c.C3607A						.						55	52	53					16																	4935049		2197	4300	6497	SO:0001819	synonymous_variant	5493	exon22			CACCCCGGTACTT	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.3607C>A	16.37:g.4935049G>T		15	0		18	2	NM_002705	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																			.		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4935049	G	T	4935049	2	4	11	1	0	0	0	0	0	0	0	1	12376	1115	39	2		2	PPL	16	4935049	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		4935049	85419704	104	1556											
MVD	4597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	88721635	88721635	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr16:88721635C>T	ENST00000301012.3	-	7	898	c.869G>A	c.(868-870)cGc>cAc	p.R290H	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	290					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCGTTGAAGCGGTGCACCAG	0.642																																					p.R290H		.											.	.	.	0			c.G869A						.						172	137	149					16																	88721635		2184	4284	6468	SO:0001583	missense	4597	exon7			TTGAAGCGGTGCA	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.869G>A	16.37:g.88721635C>T	ENSP00000301012:p.Arg290His	25	0		42	12	NM_002461	Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	CCDS10968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.33|16.33	3.092188|3.092188	0.55968|0.55968	.|.	.|.	ENSG00000167508|ENSG00000167508	ENST00000378400|ENST00000301012	.|T	.|0.29397	.|1.57	4.26|4.26	4.26|4.26	0.50523|0.50523	.|.	.|0.234802	.|0.45606	.|D	.|0.000352	T|T	0.31389|0.31389	0.0795|0.0795	M|M	0.72624|0.72624	2.21|2.21	0.45076|0.45076	D|D	0.998093|0.998093	.|B	.|0.23990	.|0.095	.|B	.|0.12837	.|0.008	T|T	0.15263|0.15263	-1.0443|-1.0443	6|10	0.87932|0.44086	D|T	0|0.13	-6.7066|-6.7066	10.7069|10.7069	0.45960|0.45960	0.0:0.9109:0.0:0.0891|0.0:0.9109:0.0:0.0891	.|.	.|290	.|P53602	.|MVD1_HUMAN	T|H	118|290	.|ENSP00000301012:R290H	ENSP00000367653:A118T|ENSP00000301012:R290H	A|R	-|-	1|2	0|0	MVD|MVD	87249136|87249136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.802000|0.802000	0.45316|0.45316	2.637000|2.637000	0.46553|0.46553	2.092000|2.092000	0.63282|0.63282	0.491000|0.491000	0.48974|0.48974	GCT|CGC	.		0.642	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		T	88721635	C	T	88721635	3	4	11	1	0	0	0	0	1	0	0	0	10032	768	27	1	349	1	MVD	16	88721635	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	83786586	88721635	1633118	105	1557											
TP53	7157	broad.mit.edu;bcgsc.ca	37	17	7577554	7577573	+	Frame_Shift_Del	DEL	TGCAGGAACTGTTACACATG	TGCAGGAACTGTTACACATG	-	rs375874539|rs193920789|rs397516437|rs121912655|rs587782664|rs28934573		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:7577554_7577573delTGCAGGAACTGTTACACATG	ENST00000269305.4	-	7	897_916	c.708_727delCATGTGTAACAGTTCCTGCA	c.(706-729)tacatgtgtaacagttcctgcatgfs	p.MCNSSCM237fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.MCNSSCM237fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.MCNSSCM237fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.MCNSSCM237fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.MCNSSCM237fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.MCNSSCM237fs	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.M237I(109)|p.S241F(85)|p.C242F(82)|p.C238Y(65)|p.C238F(46)|p.C242Y(44)|p.N239D(33)|p.N239S(28)|p.C242S(26)|p.S241C(26)|p.C238S(21)|p.C242fs*5(16)|p.N239fs*25(14)|p.C238R(14)|p.S240G(14)|p.C242R(12)|p.Y236*(12)|p.M237K(11)|p.M243L(10)|p.S241fs*6(9)|p.S241T(8)|p.S240R(8)|p.0?(8)|p.S241Y(8)|p.S241A(8)|p.N239K(7)|p.C242W(7)|p.N239Y(6)|p.M237V(6)|p.S240I(6)|p.C149F(6)|p.S241del(5)|p.C145F(5)|p.N239fs*1(5)|p.C145Y(5)|p.?(5)|p.M237L(5)|p.M144I(4)|p.N239T(4)|p.M237fs*10(4)|p.Y236del(4)|p.S148F(4)|p.M237_N239delMCN(4)|p.C238G(4)|p.C238*(4)|p.M243V(3)|p.C242*(3)|p.M237R(3)|p.N146S(3)|p.S240C(3)|p.N239_C242delNSSC(3)|p.S241S(3)|p.S241P(3)|p.Y236Y(2)|p.C242C(2)|p.C242G(2)|p.N239fs*8(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.N239_S240insX(2)|p.S240S(2)|p.S240T(2)|p.C238W(2)|p.C149Y(2)|p.M237T(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146fs*1(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.N239fs*26(1)|p.C242fs*98(1)|p.N235_Y236delNY(1)|p.C238fs*2(1)|p.M237_C238insX(1)|p.Y236_M237delYM(1)|p.M144K(1)|p.M144L(1)|p.C242_M246>L(1)|p.N239I(1)|p.N239N(1)|p.C145S(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.S240fs*23(1)|p.C145G(1)|p.N239_C242del(1)|p.S148T(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.C238fs*9(1)|p.Y236_M237insXX(1)|p.M243fs*4(1)|p.M144_N146delMCN(1)|p.Y236_M237>*L(1)|p.Y143*(1)|p.I232_Y236delIHYNY(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N146D(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.S240P(1)|p.S241_C242insX(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.M237fs*1(1)|p.N239fs*>48(1)|p.S241fs*23(1)|p.N146fs*>10(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)	ATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGT	0.586		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.236_243del	Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53,NS,carcinoma,0,28	TP53	33396	920	Substitution - Missense(761)|Deletion - Frameshift(47)|Deletion - In frame(28)|Insertion - Frameshift(27)|Substitution - Nonsense(21)|Substitution - coding silent(11)|Whole gene deletion(8)|Insertion - In frame(7)|Unknown(5)|Complex - deletion inframe(2)|Complex - frameshift(1)|Complex - insertion inframe(1)|Complex - compound substitution(1)	lung(111)|breast(97)|large_intestine(90)|ovary(90)|upper_aerodigestive_tract(76)|haematopoietic_and_lymphoid_tissue(68)|oesophagus(56)|urinary_tract(52)|central_nervous_system(49)|endometrium(48)|liver(41)|stomach(26)|biliary_tract(21)|pancreas(19)|soft_tissue(18)|skin(16)|bone(11)|prostate(10)|kidney(7)|thyroid(4)|cervix(4)|eye(3)|meninges(1)|testis(1)|thymus(1)	c.708_727del	GRCh37	CD951866|CD984149|CM011014|CM025271|CM034930|CM056070|CM910618|CM920673|CM942121	TP53	D|M	rs121912655|rs28934573	.																																			SO:0001589	frameshift_variant	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;	CGCCCATGCAGGA	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.708_727delCATGTGTAACAGTTCCTGCA	17.37:g.7577554_7577573delTGCAGGAACTGTTACACATG	ENSP00000269305:p.Met237fs	28	0		17	7	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																			.		0.586	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577573	TGCAGGAACTGTTACACATG	-	7577554	7	5	11	1	0	1	0	1	0	0	0	0	16429	1464	51	0	563	0	TP53	17	7577554	Frame_Shift_Del	DEL	TGCAGGAACTGTTACACATG	TCGA-W5-AA2O-01A-11D-A417-09		7577554	73617656	106	1558											
TP53	7157	hgsc.bcm.edu	37	17	7577579	7577580	+	Frame_Shift_Ins	INS	-	-	T	rs587780073		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:7577579_7577580insT	ENST00000269305.4	-	7	890_891	c.701_702insA	c.(700-702)tacfs	p.Y234fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y234fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y234fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Y234fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y234fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y234fs	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234*(4)|p.Y234del(3)|p.N235fs*5(2)|p.Y141S(2)|p.N235fs*6(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(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)	ACATGTAGTTGTAGTGGATGGT	0.574		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.Y234_N235delinsX	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000545858,colon,carcinoma,0,21	TP53_ENST00000545858	0	150	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)|Substitution - Nonsense(4)|Insertion - Frameshift(3)|Insertion - In frame(1)|Substitution - coding silent(1)	lung(32)|haematopoietic_and_lymphoid_tissue(19)|breast(18)|ovary(15)|central_nervous_system(11)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(8)|biliary_tract(7)|large_intestine(5)|kidney(4)|bone(4)|cervix(3)|stomach(2)|skin(2)|vulva(1)|adrenal_gland(1)|liver(1)	c.702_703insA	GRCh37	CM035576	TP53	M		.																																			SO:0001589	frameshift_variant	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;	GTAGTTGTAGTGG	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.702dupA	17.37:g.7577580_7577580dupT	ENSP00000269305:p.Tyr234fs	33	0		18	10	NM_001126112	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																			.		0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577580	-	T	7577579	7	5	11	1	0	1	1	0	0	0	0	0	16429	1372	48	0	588	0	TP53	17	7577579	Frame_Shift_Ins	INS	-	TCGA-W5-AA2O-01A-11D-A417-09	25	7577579	73617631	107	1559											
MYH2	4620	bcgsc.ca	37	17	10436657	10436657	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:10436657C>T	ENST00000245503.5	-	21	2770	c.2386G>A	c.(2386-2388)Gcc>Acc	p.A796T	MYH2_ENST00000397183.2_Missense_Mutation_p.A796T|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	796	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						CTGCACCTGGCCTGGGTTCGG	0.463																																					p.A796T													.	MYH2	390	0			c.G2386A						.						91	91	91					17																	10436657		2203	4300	6503	SO:0001583	missense	4620	exon21			ACCTGGCCTGGGT		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.2386G>A	17.37:g.10436657C>T	ENSP00000245503:p.Ala796Thr	66	0		57	5	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166956	0.94768	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.73897	-0.79;-0.79	5.17	4.2	0.49525	.	0.000000	0.39020	U	0.001488	D	0.88948	0.6576	M	0.93720	3.45	0.58432	D	0.999994	D	0.76494	0.999	D	0.87578	0.998	D	0.91206	0.4995	10	0.56958	D	0.05	.	14.0113	0.64498	0.0:0.9273:0.0:0.0727	.	796	Q9UKX2	MYH2_HUMAN	T	796	ENSP00000245503:A796T;ENSP00000380367:A796T	ENSP00000245503:A796T	A	-	1	0	MYH2	10377382	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.754000	0.68743	1.413000	0.46997	0.591000	0.81541	GCC	.		0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10436657	C	T	10436657	3	4	11	1	0	0	0	0	1	0	0	0	10073	739	26	3	3519	3	MYH2	17	10436657	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	2859078	10436657	70758553	108	1560											
TRAF4	9618	ucsc.edu	37	17	27075650	27075650	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:27075650T>C	ENST00000262395.5	+	6	875	c.746T>C	c.(745-747)cTc>cCc	p.L249P	AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.L249P|TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	249					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCTGGTGCTCTGCCCATTC	0.602																																					p.L249P													.	TRAF4	20	0			c.T746C						.						54	48	50					17																	27075650		2203	4300	6503	SO:0001583	missense	9618	exon6			TGGTGCTCTGCCC	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.746T>C	17.37:g.27075650T>C	ENSP00000262395:p.Leu249Pro	13	0		41	4	NM_004295	O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695800	0.30052	.	.	ENSG00000076604	ENST00000262395;ENST00000444415	T;T	0.28454	1.61;1.61	5.65	5.65	0.86999	Zinc finger, TRAF-type (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	N	0.17723	0.515	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.16808	-1.0390	10	0.29301	T	0.29	.	14.7014	0.69160	0.0:0.0:0.0:1.0	.	249	Q9BUZ4	TRAF4_HUMAN	P	249	ENSP00000262395:L249P;ENSP00000438154:L249P	ENSP00000262395:L249P	L	+	2	0	TRAF4	24099777	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	7.377000	0.79668	2.149000	0.67028	0.533000	0.62120	CTC	.		0.602	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		C	27075650	T	C	27075650	3	2	11	1	0	0	0	0	1	0	0	0	16491	1551	54	4	768	4	TRAF4	17	27075650	Missense_Mutation	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09	16638993	27075650	54119560	109	1561											
SLFN11	91607	hgsc.bcm.edu;bcgsc.ca	37	17	33690820	33690820	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:33690820C>T	ENST00000394566.1	-	4	279	c.7G>A	c.(7-9)Gca>Aca	p.A3T	SLFN11_ENST00000308377.4_Missense_Mutation_p.A3T	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	3					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)		CACTGATTTGCCTCCATGTTG	0.388																																					p.A3T		.											.	.	.	0			c.G7A						.						50	54	52					17																	33690820		2195	4296	6491	SO:0001583	missense	91607	exon2			GATTTGCCTCCAT	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.7G>A	17.37:g.33690820C>T	ENSP00000378067:p.Ala3Thr	35	0		84	4	NM_152270	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	9.689	1.151346	0.21371	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.25912	4.43;4.43;1.77;2.12;1.77	3.85	-5.87	0.02297	.	2.200940	0.03079	U	0.158200	T	0.11410	0.0278	N	0.24115	0.695	0.09310	N	1	B	0.33694	0.421	B	0.26770	0.073	T	0.17228	-1.0376	10	0.07990	T	0.79	.	5.4482	0.16548	0.1356:0.4035:0.0:0.4609	.	3	Q7Z7L1	SLN11_HUMAN	T	3	ENSP00000312402:A3T;ENSP00000378067:A3T;ENSP00000397454:A3T;ENSP00000393615:A3T;ENSP00000395140:A3T	ENSP00000312402:A3T	A	-	1	0	SLFN11	30714933	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.772000	0.01787	-0.971000	0.03564	-0.140000	0.14226	GCA	.		0.388	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		T	33690820	C	T	33690820	3	4	11	1	0	0	0	0	1	0	0	0	14778	739	26	3	2714	3	SLFN11	17	33690820	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	6615170	33690820	47504390	110	1562											
MKS1	54903	bcgsc.ca	37	17	56293485	56293485	+	Silent	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:56293485G>T	ENST00000393119.2	-	4	455	c.381C>A	c.(379-381)acC>acA	p.T127T	MKS1_ENST00000313863.6_Silent_p.T127T|MKS1_ENST00000537529.2_Silent_p.T117T|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Silent_p.T127T|LPO_ENST00000582328.1_5'Flank	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	127					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTCAGTGTAGGTAAAGATTC	0.438																																					p.T127T													.	MKS1	100	0			c.C381A						.						197	184	188					17																	56293485		1903	4109	6012	SO:0001819	synonymous_variant	54903	exon4			AGTGTAGGTAAAG	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.381C>A	17.37:g.56293485G>T		50	0		142	5	NM_017777	B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	9.922	1.212413	0.22289	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.82	0.171	0.15026	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-17.8273	6.0866	0.19970	0.2942:0.1256:0.5801:0.0	.	.	.	.	H	128	.	.	P	-	2	0	MKS1	53648484	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	0.522000	0.22909	0.107000	0.17824	-0.134000	0.14843	CCT	.		0.438	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		T	56293485	G	T	56293485	2	4	11	1	0	0	0	0	0	0	0	1	9647	987	35	3		3	MKS1	17	56293485	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	22602665	56293485	24901725	111	1563											
LRRC37A3	374819	hgsc.bcm.edu	37	17	62856687	62856687	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:62856687C>A	ENST00000584306.1	-	11	4107	c.3577G>T	c.(3577-3579)Gcc>Tcc	p.A1193S	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A311S|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A170S|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1193S|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A231S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1193						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						GATGCCTGGGCACCCTGTTCC	0.552																																					p.A1193S		.											.	.	.	0			c.G3577T						.						87	93	91					17																	62856687		2203	4297	6500	SO:0001583	missense	374819	exon11			CCTGGGCACCCTG	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.3577G>T	17.37:g.62856687C>A	ENSP00000464535:p.Ala1193Ser	64	0		176	7	NM_199340	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	14.88	2.668922	0.47677	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.61392	1.38;1.38;0.11	2.46	2.46	0.29980	.	.	.	.	.	T	0.69205	0.3085	M	0.68593	2.085	0.09310	N	1	D;D	0.69078	0.997;0.984	P;D	0.65443	0.783;0.935	T	0.55829	-0.8079	9	0.87932	D	0	.	8.4678	0.32966	0.0:1.0:0.0:0.0	.	311;1193	B4DG20;O60309	.;L37A3_HUMAN	S	274;231;170;1193	ENSP00000383674:A231S;ENSP00000335617:A170S;ENSP00000325713:A1193S	ENSP00000325713:A1193S	A	-	1	0	LRRC37A3	60287149	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.811000	0.04500	1.374000	0.46228	0.298000	0.19748	GCC	.		0.552	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		A	62856687	C	A	62856687	3	1	11	1	0	0	0	0	1	0	0	0	9028	710	25	3	1343	3	LRRC37A3	17	62856687	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	6563202	62856687	18338523	112	1564											
ACOX1	51	hgsc.bcm.edu	37	17	73944443	73944443	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:73944443A>T	ENST00000301608.4	-	13	1884	c.1824T>A	c.(1822-1824)gaT>gaA	p.D608E	ACOX1_ENST00000293217.5_Missense_Mutation_p.D608E|ACOX1_ENST00000537812.1_Missense_Mutation_p.D570E	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	608					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)	AATCAAATGCATCAACCAAAG	0.453																																					p.D608E		.											.	.	.	0			c.T1824A						.						194	163	174					17																	73944443		2203	4300	6503	SO:0001583	missense	51	exon13			AAATGCATCAACC	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.1824T>A	17.37:g.73944443A>T	ENSP00000301608:p.Asp608Glu	40	0		94	4	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292717	0.80914	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	D;D;D	0.84730	-1.89;-1.89;-1.89	5.35	2.89	0.33648	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	M	0.84511	2.7	0.58432	D	0.99999	D;D;D;P	0.89917	1.0;1.0;0.959;0.885	D;D;P;P	0.97110	1.0;1.0;0.766;0.447	D	0.90579	0.4528	10	0.87932	D	0	-32.0135	9.3918	0.38378	0.7536:0.0:0.2464:0.0	.	540;570;608;608	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	E	608;608;570;608;540	ENSP00000301608:D608E;ENSP00000293217:D608E;ENSP00000441257:D570E	ENSP00000293217:D608E	D	-	3	2	ACOX1	71456038	0.599000	0.26891	0.994000	0.49952	0.995000	0.86356	-0.055000	0.11807	0.449000	0.26747	0.533000	0.62120	GAT	.		0.453	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			T	73944443	A	T	73944443	3	4	11	1	0	0	0	0	1	0	0	0	158	214	8	5	166	5	ACOX1	17	73944443	Missense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	11087756	73944443	7250767	113	1565											
ZNF750	79755	hgsc.bcm.edu	37	17	80788577	80788577	+	Missense_Mutation	SNP	G	G	T	rs142714888		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr17:80788577G>T	ENST00000269394.3	-	3	2446	c.1613C>A	c.(1612-1614)gCg>gAg	p.A538E	ZNF750_ENST00000572562.1_Missense_Mutation_p.A139E|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	538					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)			GGCGGTTTCCGCCTGGGGGCT	0.627																																					p.A538E		.											.	.	.	0			c.C1613A						.						44	49	47					17																	80788577		2203	4295	6498	SO:0001583	missense	79755	exon3			GTTTCCGCCTGGG	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.1613C>A	17.37:g.80788577G>T	ENSP00000269394:p.Ala538Glu	44	0		82	4	NM_024702	Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.510733	0.00984	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.13538	2.58	3.43	-6.86	0.01676	.	1.961470	0.02805	U	0.123627	T	0.08313	0.0207	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25257	-1.0137	9	.	.	.	0.0575	0.9931	0.01461	0.3958:0.1137:0.2626:0.2279	.	538	Q32MQ0	ZN750_HUMAN	E	538;131	ENSP00000269394:A538E	.	A	-	2	0	ZNF750	78381866	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.543000	0.06084	-1.445000	0.01948	-0.895000	0.02911	GCG	.		0.627	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		T	80788577	G	T	80788577	3	4	11	1	0	0	0	0	1	0	0	0	18180	1087	38	2	562	2	ZNF750	17	80788577	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	6844134	80788577	406633	114	1566											
LAMA3	3909	hgsc.bcm.edu	37	18	21513818	21513818	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr18:21513818C>T	ENST00000313654.9	+	67	9022	c.8781C>T	c.(8779-8781)tgC>tgT	p.C2927C	LAMA3_ENST00000269217.6_Silent_p.C1318C|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.C1262C|LAMA3_ENST00000399516.3_Silent_p.C2871C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2927	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)					TGGGAGGCTGCAGTTTAAACA	0.418																																					p.C2927C		.											.	.	.	0			c.C8781T						.						125	108	114					18																	21513818		2203	4300	6503	SO:0001819	synonymous_variant	3909	exon67			AGGCTGCAGTTTA	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.8781C>T	18.37:g.21513818C>T		44	0		90	5	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																			.		0.418	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21513818	C	T	21513818	2	4	11	1	0	0	0	0	0	0	0	1	8635	718	25	3		3	LAMA3	18	21513818	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		21513818	56563430	115	1567											
HDGFRP2	84717	hgsc.bcm.edu	37	19	4493798	4493798	+	Silent	SNP	T	T	C	rs533672657		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:4493798T>C	ENST00000301284.4	+	7	841	c.777T>C	c.(775-777)tcT>tcC	p.S259S	HDGFRP2_ENST00000586684.1_Silent_p.S259S	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		259	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										cctcctcctcttcctcctcct	0.672													t|||	1	0.000199681	0	0	5008	,	,		13543	0.001		0	False		,,,				2504	0				p.S259S		.											.,1	.	.	0			c.T777C						.						15	19	17					19																	4493798		2105	4182	6287	SO:0001819	synonymous_variant	0	exon7			CTCCTCTTCCTCC																												ENST00000301284.4:c.777T>C	19.37:g.4493798T>C		30	0		59	3	NM_032631	I3L080|K7EQZ6|Q96GI5|Q9BW08	Silent	SNP	ENST00000301284.4	37	CCDS42472.1																																																																																			.		0.672	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			C	4493798	T	C	4493798	2	2	11	1	0	0	0	0	0	0	0	1	7047	1596	56	4		4	HDGFRP2	19	4493798	Silent	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09		4493798	54635185	116	1568											
FBN3	84467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8191217	8191217	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:8191217G>A	ENST00000600128.1	-	21	2983	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	FBN3_ENST00000601739.1_Missense_Mutation_p.R857W|FBN3_ENST00000270509.2_Missense_Mutation_p.R857W			Q75N90	FBN3_HUMAN	fibrillin 3	857	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						GCAAAGCCCCGGGCACAGGCA	0.632																																					p.R857W		.											.	.	.	0			c.C2569T						.						32	34	34					19																	8191217		2196	4293	6489	SO:0001583	missense	84467	exon20			AGCCCCGGGCACA		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.2569C>T	19.37:g.8191217G>A	ENSP00000470498:p.Arg857Trp	60	0		110	44	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937938	0.52972	.	.	ENSG00000142449	ENST00000270509	D	0.87571	-2.27	2.87	2.87	0.33458	Matrix fibril-associated (2);	0.144593	0.45867	U	0.000339	D	0.91140	0.7210	M	0.77616	2.38	0.41141	D	0.985958	D	0.76494	0.999	D	0.63283	0.913	D	0.91143	0.4947	10	0.56958	D	0.05	.	10.063	0.42286	0.0:0.0:0.7984:0.2016	.	857	Q75N90	FBN3_HUMAN	W	857	ENSP00000270509:R857W	ENSP00000270509:R857W	R	-	1	2	FBN3	8097217	0.992000	0.36948	0.966000	0.40874	0.725000	0.41563	3.088000	0.50175	1.574000	0.49760	0.555000	0.69702	CGG	.		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8191217	G	A	8191217	3	1	11	1	0	0	0	0	1	0	0	0	5726	1115	39	1	6036	1	FBN3	19	8191217	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	3697419	8191217	50937766	117	1569											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	9072960	9072960	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:9072960T>C	ENST00000397910.4	-	3	14689	c.14486A>G	c.(14485-14487)aAc>aGc	p.N4829S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4831	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						AACTACTGTGTTTATGGAAGG	0.448																																					p.N4829S		.											.	.	.	0			c.A14486G						.						157	148	151					19																	9072960		2084	4211	6295	SO:0001583	missense	94025	exon3			ACTGTGTTTATGG	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.14486A>G	19.37:g.9072960T>C	ENSP00000381008:p.Asn4829Ser	20	0		110	38	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.625	-0.076784	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	2.05	-0.49	0.12049	.	.	.	.	.	T	0.19366	0.0465	N	0.25647	0.755	.	.	.	P	0.39424	0.673	B	0.44278	0.445	T	0.26815	-1.0092	8	0.87932	D	0	.	4.5995	0.12347	0.5386:0.0:0.0:0.4614	.	4829	B5ME49	.	S	4829	ENSP00000381008:N4829S	ENSP00000381008:N4829S	N	-	2	0	MUC16	8933960	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.043000	0.12043	-0.187000	0.10516	0.375000	0.23000	AAC	.		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9072960	T	C	9072960	3	2	11	1	0	0	0	0	1	0	0	0	10011	1725	60	4	29365	4	MUC16	19	9072960	Missense_Mutation	SNP	T	TCGA-W5-AA2O-01A-11D-A417-09	881743	9072960	50056023	118	1570											
EMR3	84658	hgsc.bcm.edu	37	19	14736408	14736408	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:14736408G>T	ENST00000253673.5	-	15	1916	c.1816C>A	c.(1816-1818)Cag>Aag	p.Q606K	EMR3_ENST00000599900.1_Missense_Mutation_p.Q391K|EMR3_ENST00000443157.2_Missense_Mutation_p.Q480K|EMR3_ENST00000344373.4_Missense_Mutation_p.Q554K	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	606					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						TATTGTTTCTGGACCTGGAAC	0.408																																					p.Q606K		.											.	.	.	0			c.C1816A						.						162	147	152					19																	14736408		2203	4300	6503	SO:0001583	missense	84658	exon15			GTTTCTGGACCTG	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.1816C>A	19.37:g.14736408G>T	ENSP00000253673:p.Gln606Lys	33	0		84	4	NM_032571		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962606	0.34659	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.34275	1.37;1.37;1.37	3.79	2.75	0.32379	.	.	.	.	.	T	0.25269	0.0614	N	0.17082	0.46	0.22728	N	0.9988	B;B;B	0.28178	0.128;0.202;0.116	B;B;B	0.35550	0.101;0.205;0.146	T	0.28618	-1.0038	9	0.62326	D	0.03	.	7.1267	0.25475	0.1259:0.0:0.8741:0.0	.	480;554;606	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	K	480;606;554	ENSP00000396208:Q480K;ENSP00000253673:Q606K;ENSP00000340758:Q554K	ENSP00000253673:Q606K	Q	-	1	0	EMR3	14597408	0.327000	0.24678	0.942000	0.38095	0.152000	0.21847	0.310000	0.19356	0.935000	0.37341	0.557000	0.71058	CAG	.		0.408	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14736408	G	T	14736408	3	4	11	1	0	0	0	0	1	0	0	0	5122	1357	47	3	150	3	EMR3	19	14736408	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	5663448	14736408	44392575	119	1571											
ZNF85	7639	hgsc.bcm.edu	37	19	21131993	21131993	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:21131993A>G	ENST00000328178.8	+	4	786	c.673A>G	c.(673-675)Acg>Gcg	p.T225A	ZNF85_ENST00000601023.1_Missense_Mutation_p.T166A|ZNF85_ENST00000345030.6_Missense_Mutation_p.T192A	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	225					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						GAGAATTCATACGGGAGAGAA	0.348																																					p.T255A		.											.	.	.	0			c.A763G						.						31	34	33					19																	21131993		2196	4291	6487	SO:0001583	missense	7639	exon5			ATTCATACGGGAG	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.673A>G	19.37:g.21131993A>G	ENSP00000329793:p.Thr225Ala	51	0		78	4	NM_001256171	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	7.941	0.742850	0.15642	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.26518	1.73;1.73	1.34	1.34	0.21922	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24005	0.0581	L	0.41573	1.285	0.80722	D	1	B;B;B	0.31817	0.341;0.0;0.064	B;B;B	0.40228	0.17;0.001;0.323	T	0.10109	-1.0644	9	0.72032	D	0.01	.	7.5336	0.27697	1.0:0.0:0.0:0.0	.	192;166;225	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	A	225;192;100	ENSP00000329793:T225A;ENSP00000342340:T192A	ENSP00000329793:T225A	T	+	1	0	ZNF85	20923833	0.880000	0.30214	0.277000	0.24703	0.255000	0.26057	4.496000	0.60360	0.565000	0.29255	0.374000	0.22700	ACG	.		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		G	21131993	A	G	21131993	3	3	11	1	0	0	0	0	1	0	0	0	18241	391	14	4	687	4	ZNF85	19	21131993	Missense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09	6395585	21131993	37996990	120	1572											
KRTDAP	388533	hgsc.bcm.edu	37	19	35978354	35978354	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:35978354C>T	ENST00000338897.3	-	6	364	c.276G>A	c.(274-276)agG>agA	p.R92R	KRTDAP_ENST00000484218.2_Silent_p.R78R|KRTDAP_ENST00000479340.1_5'UTR	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	92					cell differentiation (GO:0030154)	extracellular region (GO:0005576)				breast(1)|lung(4)|prostate(1)	6	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)			GAGTTGCGCTCCTCAGTCCTT	0.562																																					p.R92R		.											.	.	.	0			c.G276A						.						121	116	118					19																	35978354		2203	4300	6503	SO:0001819	synonymous_variant	388533	exon6			TGCGCTCCTCAGT	AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.276G>A	19.37:g.35978354C>T		28	0		84	4	NM_207392	A1L4D7	Silent	SNP	ENST00000338897.3	37	CCDS12462.1																																																																																			.		0.562	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			T	35978354	C	T	35978354	2	4	11	1	0	0	0	0	0	0	0	1	8608	854	30	3		3	KRTDAP	19	35978354	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	14846361	35978354	23150629	121	1573											
KLK14	43847	hgsc.bcm.edu;bcgsc.ca	37	19	51585890	51585890	+	Silent	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:51585890G>T	ENST00000156499.2	-	3	248	c.30C>A	c.(28-30)acC>acA	p.T10T	KLK14_ENST00000391802.1_Silent_p.T10T			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	10					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)		CTGAGGGCCAGGTCCTGTCAA	0.547																																					p.T10T	GBM(117;2161 2172 2448 22911)	.											.	.	.	0			c.C30A						.						83	87	86					19																	51585890		1949	4136	6085	SO:0001819	synonymous_variant	43847	exon3			GGGCCAGGTCCTG	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.30C>A	19.37:g.51585890G>T		56	0		83	5	NM_022046	A7UNK5|Q1RMZ2|Q6B089	Silent	SNP	ENST00000156499.2	37	CCDS12823.2																																																																																			.		0.547	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		T	51585890	G	T	51585890	2	4	11	1	0	0	0	0	0	0	0	1	8429	987	35	3		3	KLK14	19	51585890	Silent	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	15607536	51585890	7543093	122	1574											
NLRP5	126206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	56515295	56515295	+	Silent	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:56515295C>T	ENST00000390649.3	+	2	276	c.276C>T	c.(274-276)acC>acT	p.T92T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	92	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		CAGAATCGACCACATGCTCTA	0.453																																					p.T92T		.											.	.	.	0			c.C276T						.						89	86	87					19																	56515295		1965	4165	6130	SO:0001819	synonymous_variant	126206	exon2			ATCGACCACATGC	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.276C>T	19.37:g.56515295C>T		48	0		91	29	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																			.		0.453	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56515295	C	T	56515295	2	4	11	1	0	0	0	0	0	0	0	1	10519	581	21	3		3	NLRP5	19	56515295	Silent	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	4929405	56515295	2613688	123	1575											
ZNF547	284306	hgsc.bcm.edu	37	19	57888521	57888521	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:57888521G>T	ENST00000282282.3	+	4	327	c.177G>T	c.(175-177)gaG>gaT	p.E59D	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	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)			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)		CTGAGGATGAGGAGGCACCTT	0.502																																					p.E59D		.											.	.	.	0			c.G177T						.						92	72	79					19																	57888521		2203	4300	6503	SO:0001583	missense	284306	exon4			GGATGAGGAGGCA	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.177G>T	19.37:g.57888521G>T	ENSP00000282282:p.Glu59Asp	31	0		58	4	NM_173631	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253984	0.59212	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.00824	5.65	2.36	-0.784	0.10954	Krueppel-associated box (3);	.	.	.	.	T	0.00936	0.0031	L	0.52011	1.625	0.09310	N	1	P;P	0.45957	0.615;0.869	B;B	0.38106	0.122;0.265	T	0.50285	-0.8846	9	0.18710	T	0.47	.	6.176	0.20444	0.4232:0.0:0.5768:0.0	.	59;59	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	D	59	ENSP00000282282:E59D	ENSP00000282282:E59D	E	+	3	2	ZNF547	62580333	0.012000	0.17670	0.193000	0.23327	0.611000	0.37282	0.309000	0.19332	-0.023000	0.13963	0.491000	0.48974	GAG	.		0.502	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		T	57888521	G	T	57888521	3	4	11	1	0	0	0	0	1	0	0	0	18027	991	35	3	187	3	ZNF547	19	57888521	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	1373226	57888521	1240462	124	1576											
ZNF329	79673	hgsc.bcm.edu	37	19	58639391	58639391	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr19:58639391G>T	ENST00000598312.1	-	4	1713	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	ZNF329_ENST00000358067.4_Missense_Mutation_p.Q494K	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	494					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAGAGTTCTGCTTGAAGGAC	0.517																																					p.Q494K		.											.	.	.	0			c.C1480A						.						152	144	147					19																	58639391		2203	4300	6503	SO:0001583	missense	79673	exon4			AGTTCTGCTTGAA	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1480C>A	19.37:g.58639391G>T	ENSP00000470008:p.Gln494Lys	29	0		75	4	NM_024620	B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574462	0.28092	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.17691	2.26;2.26	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39834	N	0.001258	T	0.13670	0.0331	L	0.40543	1.245	0.29384	N	0.863093	P	0.50156	0.932	B	0.41860	0.368	T	0.07520	-1.0768	10	0.48119	T	0.1	-12.4876	7.8034	0.29187	0.0:0.1744:0.6453:0.1802	.	494	Q86UD4	ZN329_HUMAN	K	494	ENSP00000350773:Q494K;ENSP00000439527:Q494K	ENSP00000350773:Q494K	Q	-	1	0	ZNF329	63331203	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.383000	0.20651	2.691000	0.91804	0.655000	0.94253	CAG	.		0.517	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		T	58639391	G	T	58639391	3	4	11	1	0	0	0	0	1	0	0	0	17895	1328	46	3	149	3	ZNF329	19	58639391	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	750870	58639391	489592	125	1577											
ZCCHC3	85364	hgsc.bcm.edu	37	20	278688	278688	+	Missense_Mutation	SNP	C	C	A	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr20:278688C>A	ENST00000382352.3	+	1	952	c.461C>A	c.(460-462)cCg>cAg	p.P154Q		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		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)			CAGGATGAgccggcggcggcg	0.766																																					p.P154Q		.											.,4	.	20	3	Deletion - In frame(3)	prostate(2)|large_intestine(1)	c.C461A						.						1	1	1					20																	278688		782	1539	2321	SO:0001583	missense	85364	exon1			ATGAGCCGGCGGC	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.461C>A	20.37:g.278688C>A	ENSP00000371789:p.Pro154Gln	10	0		15	2	NM_033089	Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	C	0.443	-0.897474	0.02472	.	.	ENSG00000177764	ENST00000382352	.	.	.	3.88	-3.04	0.05412	.	2.664870	0.01730	N	0.028791	T	0.26666	0.0652	N	0.19112	0.55	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.15263	-1.0443	9	0.34782	T	0.22	0.975	5.6625	0.17676	0.1627:0.6261:0.1076:0.1036	.	154	Q9NUD5	ZCHC3_HUMAN	Q	154	.	ENSP00000371789:P154Q	P	+	2	0	ZCCHC3	226688	0.510000	0.26171	0.018000	0.16275	0.097000	0.18754	-0.212000	0.09319	-0.309000	0.08779	0.305000	0.20034	CCG	.		0.766	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			A	278688	C	A	278688	3	1	11	1	0	0	0	0	1	0	0	0	17637	652	23	2	463	2	ZCCHC3	20	278688	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		278688	62746832	126	1578											
CPXM1	56265	hgsc.bcm.edu	37	20	2776024	2776024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr20:2776024C>A	ENST00000380605.2	-	12	1823	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	587					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E587*(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACAGTGACCTCAAAGCAGTTG	0.562																																					p.E587X		.											CPXM1,NS,carcinoma,0,1	CPXM1	0	1	Substitution - Nonsense(1)	lung(1)	c.G1759T						.						125	113	117					20																	2776024		2203	4300	6503	SO:0001587	stop_gained	56265	exon12			TGACCTCAAAGCA	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.1759G>T	20.37:g.2776024C>A	ENSP00000369979:p.Glu587*	17	0		32	2	NM_019609	Q6P4G8|Q6UW65|Q9NUB5	Nonsense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	38	7.002689	0.97994	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.9254	16.7195	0.85406	0.0:1.0:0.0:0.0	.	.	.	.	X	587;283	.	ENSP00000369979:E587X	E	-	1	0	CPXM1	2724024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GAG	.		0.562	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		A	2776024	C	A	2776024	4	1	11	1	0	0	0	0	0	1	0	0	3844	835	29	3	457	3	CPXM1	20	2776024	Nonsense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	2497336	2776024	60249496	127	1579											
C20orf186	149954	hgsc.bcm.edu	37	20	31685468	31685468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr20:31685468C>T	ENST00000375483.3	+	11	1444	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	482						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.Q443*(1)									CATCAGGATCCAGGTGCTGAA	0.592																																					p.Q482X		.											C20orf186,scalp,carcinoma,0,1	C20orf186	0	1	Substitution - Nonsense(1)	skin(1)	c.C1444T						.						161	137	145					20																	31685468		2203	4300	6503	SO:0001587	stop_gained	149954	exon11			AGGATCCAGGTGC	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.1444C>T	20.37:g.31685468C>T	ENSP00000364632:p.Gln482*	7	0		38	2	NM_182519	Q5TDX6	Nonsense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	37	5.987630	0.97179	.	.	ENSG00000186191	ENST00000375483	.	.	.	5.44	5.44	0.79542	.	0.354891	0.26769	N	0.022582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-21.6417	15.1038	0.72303	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	ENSP00000364632:Q482X	Q	+	1	0	BPIFB4	31149129	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.296000	0.33389	2.711000	0.92665	0.462000	0.41574	CAG	.		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		T	31685468	C	T	31685468	4	4	11	1	0	0	0	0	0	1	0	0	2105	595	21	3	1486	3	C20orf186	20	31685468	Nonsense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	28909444	31685468	31340052	128	1580											
CPNE1	8904	hgsc.bcm.edu	37	20	34218396	34218396	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr20:34218396G>A	ENST00000317619.3	-	15	1461	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	CPNE1_ENST00000352393.4_Missense_Mutation_p.A356V|CPNE1_ENST00000397446.1_Missense_Mutation_p.A356V|CPNE1_ENST00000397442.1_Missense_Mutation_p.A356V|CPNE1_ENST00000317677.5_Missense_Mutation_p.A361V|CPNE1_ENST00000397445.1_Missense_Mutation_p.A356V|CPNE1_ENST00000397443.1_Missense_Mutation_p.A356V			Q99829	CPNE1_HUMAN	copine I	356	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAAATTCAAGGCAAATTCATG	0.493																																					p.A361V		.											.	.	.	0			c.C1082T						.						138	123	128					20																	34218396		2203	4300	6503	SO:0001583	missense	8904	exon13			TTCAAGGCAAATT	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.1067C>T	20.37:g.34218396G>A	ENSP00000326126:p.Ala356Val	56	0		98	4	NM_003915	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019460	0.93462	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570	T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.64	5.64	0.86602	von Willebrand factor, type A (1);Copine (1);	0.067490	0.64402	U	0.000016	T	0.56426	0.1984	M	0.93197	3.39	0.51233	D	0.999911	B;B;B;D;P	0.62365	0.08;0.445;0.43;0.991;0.794	B;P;P;D;P	0.64776	0.328;0.582;0.704;0.929;0.671	T	0.63346	-0.6658	10	0.36615	T	0.2	-16.6704	18.4717	0.90777	0.0:0.0:1.0:0.0	.	361;356;356;336;356	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	V	356;361;356;356;356;356;356;356;332	ENSP00000336945:A356V;ENSP00000317257:A361V;ENSP00000326126:A356V;ENSP00000380588:A356V;ENSP00000380587:A356V;ENSP00000380585:A356V;ENSP00000380584:A356V;ENSP00000415597:A356V;ENSP00000390626:A332V	ENSP00000326126:A356V	A	-	2	0	CPNE1	33681810	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.771000	0.98977	2.657000	0.90304	0.655000	0.94253	GCC	.		0.493	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		A	34218396	G	A	34218396	3	1	11	1	0	0	0	0	1	0	0	0	3818	1203	42	3	562	3	CPNE1	20	34218396	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	2532928	34218396	28807124	129	1581											
DNAJC28	54943	hgsc.bcm.edu	37	21	34860754	34860754	+	Nonsense_Mutation	SNP	A	A	C	rs139852262|rs3834674	byFrequency	TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr21:34860754A>C	ENST00000314399.3	-	2	1385	c.947T>G	c.(946-948)tTa>tGa	p.L316*	DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.L316*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.L316*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	316				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). {ECO:0000305}.				p.L316*(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GGGAACAATTAAATTAAAATC	0.338																																					p.L316X		.											DNAJC28,NS,carcinoma,0,2	DNAJC28	0	2	Substitution - Nonsense(2)	lung(2)	c.T947G						.						78	64	69					21																	34860754		2203	4291	6494	SO:0001587	stop_gained	54943	exon2			ACAATTAAATTAA	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"Heat shock proteins / DNAJ (HSP40)"	1297	protein-coding gene	gene with protein product	"Orf28"		"chromosome 21 open reading frame 55"	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.947T>G	21.37:g.34860754A>C	ENSP00000320303:p.Leu316*	47	0		91	4	NM_001040192	D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	37	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	A	38	7.162118	0.98107	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8259	14.8401	0.70217	1.0:0.0:0.0:0.0	.	.	.	.	X	316	.	ENSP00000320303:L316X	L	-	2	0	DNAJC28	33782624	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	8.254000	0.89844	2.050000	0.60909	0.528000	0.53228	TTA	.		0.338	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			C	34860754	A	C	34860754	4	2	11	1	0	0	0	0	0	1	0	0	4660	372	13	4	223	4	DNAJC28	21	34860754	Nonsense_Mutation	SNP	A	TCGA-W5-AA2O-01A-11D-A417-09		34860754	13269141	130	1582											
GART	2618	bcgsc.ca	37	21	34889332	34889332	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr21:34889332G>T	ENST00000381831.3	-	16	2334	c.2071C>A	c.(2071-2073)Ccc>Acc	p.P691T	GART_ENST00000381839.3_Missense_Mutation_p.P691T|GART_ENST00000543717.1_Missense_Mutation_p.P243T|GART_ENST00000381815.4_Missense_Mutation_p.P691T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	691	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGGACTCTGGGGATGTTCTCT	0.438																																					p.P691T													.	GART	81	0			c.C2071A						.						110	107	108					21																	34889332		2203	4300	6503	SO:0001583	missense	2618	exon16			CTCTGGGGATGTT	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2071C>A	21.37:g.34889332G>T	ENSP00000371253:p.Pro691Thr	36	0		57	4	NM_001136005	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766201	0.69878	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	4.9	4.9	0.64082	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.91510	3.215	0.80722	D	1	B	0.31752	0.338	B	0.35550	0.205	T	0.63994	-0.6511	10	0.62326	D	0.03	-14.5591	18.0987	0.89499	0.0:0.0:1.0:0.0	.	691	P22102	PUR2_HUMAN	T	691;691;691;243	ENSP00000371236:P691T;ENSP00000371253:P691T;ENSP00000371261:P691T;ENSP00000443579:P243T	ENSP00000371236:P691T	P	-	1	0	GART	33811202	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.282000	0.72639	2.261000	0.74972	0.462000	0.41574	CCC	.		0.438	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		T	34889332	G	T	34889332	3	4	11	1	0	0	0	0	1	0	0	0	6268	1232	43	3	989	3	GART	21	34889332	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	28578	34889332	13240563	131	1583											
PTTG1IP	754	hgsc.bcm.edu	37	21	46271541	46271541	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr21:46271541G>A	ENST00000330938.3	-	6	718	c.498C>T	c.(496-498)ggC>ggT	p.G166G	PTTG1IP_ENST00000397887.3_Splice_Site_p.G93G|PTTG1IP_ENST00000397886.3_Splice_Site_p.G145G|PTTG1IP_ENST00000445724.2_Splice_Site_p.A57V	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	166					multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		CTTTAAACAGGCCTGAAACAA	0.408																																					p.G166G		.											PTTG1IP_ENST00000445724,NS,carcinoma,0,2	PTTG1IP_ENST00000445724	0	0			c.C498T						.						120	120	120					21																	46271541		2203	4300	6503	SO:0001630	splice_region_variant	754	exon6			AAACAGGCCTGAA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.497-1C>T	21.37:g.46271541G>A		48	1		74	3	NM_004339	B2RDP7|D3DSL9|Q9NS09	Silent	SNP	ENST00000330938.3	37	CCDS13715.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471486	0.26423	.	.	ENSG00000183255	ENST00000445724	T	0.42131	0.98	5.03	-1.86	0.07760	.	.	.	.	.	T	0.25901	0.0631	.	.	.	0.20196	N	0.999928	B	0.12630	0.006	B	0.10450	0.005	T	0.32929	-0.9888	8	0.87932	D	0	.	1.9347	0.03334	0.5221:0.1255:0.2301:0.1223	.	57	B4DPZ0	.	V	57	ENSP00000395374:A57V	ENSP00000395374:A57V	A	-	2	0	PTTG1IP	45095969	1.000000	0.71417	0.941000	0.38009	0.811000	0.45836	0.708000	0.25719	0.019000	0.15079	-0.768000	0.03414	GCC	.		0.408	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1		Silent	A	46271541	G	A	46271541	5	1	11	1	0	0	0	0	0	0	1	0	12865	1217	42	3	48	3	PTTG1IP	21	46271541	Splice_Site	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	11382209	46271541	1858354	132	1584											
TBX1	6899	hgsc.bcm.edu	37	22	19752563	19752563	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr22:19752563C>T	ENST00000329705.7	+	6	896	c.767C>T	c.(766-768)gCc>gTc	p.A256V	TBX1_ENST00000359500.3_Missense_Mutation_p.A256V|TBX1_ENST00000332710.4_Missense_Mutation_p.A256V	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	256					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)	p.A256V(3)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GAGAAATATGCCGAGGAGAAC	0.542																																					p.A256V		.											TBX1_ENST00000359500,brain,atypical_teratoid-rhabdoid_tumour,0,3	TBX1_ENST00000359500	0	3	Substitution - Missense(3)	central_nervous_system(3)	c.C767T						.						104	99	100					22																	19752563		2203	4300	6503	SO:0001583	missense	6899	exon6			AATATGCCGAGGA	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"T-boxes"	11592	protein-coding gene	gene with protein product		602054	"velocardiofacial syndrome"	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.767C>T	22.37:g.19752563C>T	ENSP00000331176:p.Ala256Val	30	0		52	3	NM_080647	C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334428	0.41297	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.87650	-2.28;-2.28;-2.28	4.18	4.18	0.49190	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.81187	0.4770	L	0.43701	1.375	0.80722	D	1	B;P;B	0.38395	0.425;0.629;0.425	B;B;B	0.30646	0.052;0.118;0.11	T	0.82432	-0.0460	10	0.40728	T	0.16	.	16.2707	0.82616	0.0:1.0:0.0:0.0	.	256;256;256	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	V	256	ENSP00000331791:A256V;ENSP00000331176:A256V;ENSP00000352483:A256V	ENSP00000331176:A256V	A	+	2	0	TBX1	18132563	1.000000	0.71417	0.233000	0.24025	0.164000	0.22412	5.827000	0.69300	2.174000	0.68829	0.491000	0.48974	GCC	.		0.542	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		T	19752563	C	T	19752563	3	4	11	1	0	0	0	0	1	0	0	0	15697	739	26	3	785	3	TBX1	22	19752563	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09		19752563	31552003	133	1585											
ASPHD2	57168	hgsc.bcm.edu	37	22	26830408	26830408	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr22:26830408C>A	ENST00000215906.5	+	2	1265	c.827C>A	c.(826-828)cCt>cAt	p.P276H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	276					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GTGCTGAGCCCTGGGACTGTG	0.547																																					p.P276H		.											.	.	.	0			c.C827A						.						187	184	185					22																	26830408		2203	4300	6503	SO:0001583	missense	57168	exon2			TGAGCCCTGGGAC	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.827C>A	22.37:g.26830408C>A	ENSP00000215906:p.Pro276His	54	0		78	4	NM_020437	B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201774	0.79015	.	.	ENSG00000128203	ENST00000215906	T	0.53423	0.62	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84694	0.0724	10	0.87932	D	0	-16.996	17.0945	0.86631	0.0:1.0:0.0:0.0	.	276	Q6ICH7	ASPH2_HUMAN	H	276	ENSP00000215906:P276H	ENSP00000215906:P276H	P	+	2	0	ASPHD2	25160408	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	6.967000	0.76079	2.498000	0.84270	0.557000	0.71058	CCT	.		0.547	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		A	26830408	C	A	26830408	3	1	11	1	0	0	0	0	1	0	0	0	1056	681	24	3	829	3	ASPHD2	22	26830408	Missense_Mutation	SNP	C	TCGA-W5-AA2O-01A-11D-A417-09	7077845	26830408	24474158	134	1586											
EP300	2033	hgsc.bcm.edu	37	22	41547849	41547849	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr22:41547849G>A	ENST00000263253.7	+	15	4049	c.2830G>A	c.(2830-2832)Gct>Act	p.A944T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	944					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						TTCCCAGCCAGCTGTAAGCAT	0.468			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.A944T		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	.	.	0			c.G2830A						.						84	86	85					22																	41547849		2203	4300	6503	SO:0001583	missense	2033	exon15	Familial Cancer Database	Broad Thumb-Hallux syndrome	CAGCCAGCTGTAA	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.2830G>A	22.37:g.41547849G>A	ENSP00000263253:p.Ala944Thr	29	0		73	5	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539985	0.65085	.	.	ENSG00000100393	ENST00000263253	D	0.83992	-1.79	5.52	4.48	0.54585	.	0.137650	0.32328	N	0.006258	T	0.77068	0.4076	L	0.46157	1.445	0.32187	N	0.57961	B	0.06786	0.001	B	0.06405	0.002	T	0.76465	-0.2949	10	0.44086	T	0.13	-4.741	11.2869	0.49226	0.0897:0.0:0.9103:0.0	.	944	Q09472	EP300_HUMAN	T	944	ENSP00000263253:A944T	ENSP00000263253:A944T	A	+	1	0	EP300	39877795	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.447000	0.44917	1.244000	0.43870	0.563000	0.77884	GCT	.		0.468	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41547849	G	A	41547849	3	1	11	1	0	0	0	0	1	0	0	0	5164	971	34	3	2888	3	EP300	22	41547849	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	14717441	41547849	9756717	135	1587											
ACO2	50	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	41911822	41911822	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chr22:41911822G>A	ENST00000216254.4	+	6	758	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ACO2_ENST00000466237.1_3'UTR|ACO2_ENST00000396512.3_Missense_Mutation_p.D246N	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	246					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTCACCCAAAGATGTGATCCT	0.612																																					p.D246N		.											.	.	.	0			c.G736A						.						102	86	91					22																	41911822		2203	4300	6503	SO:0001583	missense	50	exon6			CCCAAAGATGTGA	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.736G>A	22.37:g.41911822G>A	ENSP00000216254:p.Asp246Asn	39	0		60	14	NM_001098	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	G	36	5.849201	0.97023	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	D;D	0.97209	-4.29;-4.29	5.81	5.81	0.92471	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.99961	5.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97787	1.0236	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	246;246	A2A274;Q99798	.;ACON_HUMAN	N	227;246;246	ENSP00000216254:D246N;ENSP00000379769:D246N	ENSP00000216254:D246N	D	+	1	0	ACO2	40241768	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.192000	0.94947	2.746000	0.94184	0.655000	0.94253	GAT	.		0.612	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		A	41911822	G	A	41911822	3	1	11	1	0	0	0	0	1	0	0	0	147	942	33	3	758	3	ACO2	22	41911822	Missense_Mutation	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09	363973	41911822	9392744	136	1588											
FAM122C	159091	hgsc.bcm.edu;bcgsc.ca	37	X	133938244	133938244	+	5'Flank	SNP	G	G	T			TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chrX:133938244G>T	ENST00000370784.4	+	0	0				FAM122C_ENST00000370785.3_5'Flank|FAM122C_ENST00000414371.2_Missense_Mutation_p.G6V	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TATTTCCCTGGAACTGGAAGG	0.413																																					p.G6V		.											.	.	.	0			c.G17T						.						268	210	227					X																	133938244		692	1591	2283	SO:0001631	upstream_gene_variant	159091	exon3			TCCCTGGAACTGG	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716		X.37:g.133938244G>T	Exception_encountered	38	0		52	4	NM_001170780	F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592059	0.28357	.	.	ENSG00000156500	ENST00000414371	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	T	0.49253	0.1546	N	0.08118	0	0.42493	D	0.992904	D	0.76494	0.999	D	0.70487	0.969	T	0.55661	-0.8106	8	0.59425	D	0.04	.	10.2328	0.43264	0.0:0.0:1.0:0.0	.	6	F5H036	.	V	6	.	ENSP00000402477:G6V	G	+	2	0	FAM122C	133765910	0.033000	0.19621	0.165000	0.22776	0.007000	0.05969	0.291000	0.18994	2.170000	0.68504	0.594000	0.82650	GGA	.		0.413	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		T	133938244	G	T	133938244	1	4	11	0	1	0	0	0	0	0	0	0	5440	1174	41	3		3	FAM122C	23	133938244	5'Flank	SNP	G	TCGA-W5-AA2O-01A-11D-A417-09		133938244	21332316	137	1589											
PLXNA3	55558	broad.mit.edu	37	X	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-	rs375310385		TCGA-W5-AA2O-01A-11D-A417-09	TCGA-W5-AA2O-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61057f6c-7608-4c67-8381-6df68fe11d37	3ff81ee1-202a-49fd-b64b-7ad86894fc5e	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					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)	p.A17fs*39(1)		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)					TCCTTGCCGTGGGGGGGGCCC	0.682																																					p.V14fs													.	PLXNA3	156	1	Insertion - Frameshift(1)	ovary(1)	c.42delG						.			47,59,3613		1,0,29,16,2,35,20,1525,499	34	32	33			0.6	0	X		33	69,109,6290		1,0,27,40,3,50,53,2275,1663	no	codingComplex	PLXNA3	NM_017514.3		2,0,56,56,5,85,73,3800,2162	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.752,2.8502,2.7879			153688565	116,168,9903	2202	4292	6494	SO:0001589	frameshift_variant	55558	exon2			TGCCGTGGGGGGG	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.42delG	X.37:g.153688565delG	ENSP00000358696:p.Val14fs	6	0		9	3	NM_017514	Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	37	CCDS14752.1																																																																																			.		0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		-	153688565	G	-	153688565	7	5	11	1	0	1	0	1	0	0	0	0	12160	1335	47	0	44	0	PLXNA3	23	153688565	Frame_Shift_Del	DEL	G	TCGA-W5-AA2O-01A-11D-A417-09	19750321	153688565	1581995	138	1590											
MEGF6	1953	hgsc.bcm.edu	37	1	3440803	3440803	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:3440803G>T	ENST00000356575.4	-	5	715	c.489C>A	c.(487-489)gaC>gaA	p.D163E	MEGF6_ENST00000294599.4_Missense_Mutation_p.D58E	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	163	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D163E(1)		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)		TTCGGCATTCGTCCACATCTG	0.652																																					p.D163E	Ovarian(73;978 3658)	.											MEGF6,NS,carcinoma,0,1	MEGF6	0	1	Substitution - Missense(1)	lung(1)	c.C489A						.						54	65	62					1																	3440803		2053	4203	6256	SO:0001583	missense	1953	exon5			GCATTCGTCCACA	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.489C>A	1.37:g.3440803G>T	ENSP00000348982:p.Asp163Glu	84	0		13	2	NM_001409	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198997	0.38806	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.91945	-2.55;-2.94	4.47	-5.38	0.02673	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.054278	0.64402	D	0.000001	D	0.96081	0.8723	H	0.95224	3.64	0.30553	N	0.765319	D;D	0.89917	0.994;1.0	D;D	0.80764	0.972;0.994	D	0.93343	0.6711	10	0.49607	T	0.09	-26.9228	13.1827	0.59663	0.6231:0.0:0.3769:0.0	.	163;58	O75095;O75095-2	MEGF6_HUMAN;.	E	58;163	ENSP00000294599:D58E;ENSP00000348982:D163E	ENSP00000294599:D58E	D	-	3	2	MEGF6	3430663	0.004000	0.15560	0.952000	0.39060	0.202000	0.24057	-1.337000	0.02657	-0.983000	0.03511	-0.320000	0.08662	GAC	.		0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		T	3440803	G	T	3440803	3	4	12	1	0	0	0	0	1	0	0	0	9500	1136	40	2	4268	2	MEGF6	1	3440803	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		3440803	245809818	1	1591											
DDOST	1650	hgsc.bcm.edu	37	1	20979149	20979149	+	Silent	SNP	G	G	T	rs138561924		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:20979149G>T	ENST00000375048.3	-	10	1291	c.1186C>A	c.(1186-1188)Cgg>Agg	p.R396R	DDOST_ENST00000602624.2_Silent_p.R379R|DDOST_ENST00000415136.2_Silent_p.R359R|PINK1-AS_ENST00000451424.1_RNA	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	396					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGCCTAGCCGGTTGTAATCC	0.507																																					p.R396R		.											DDOST,colon,carcinoma,0,1	DDOST	0	0			c.C1186A						.						124	112	116					1																	20979149		2203	4300	6503	SO:0001819	synonymous_variant	1650	exon10			CTAGCCGGTTGTA	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.1186C>A	1.37:g.20979149G>T		101	0		22	2	NM_005216	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	ENST00000375048.3	37	CCDS212.1																																																																																			.		0.507	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		T	20979149	G	T	20979149	2	4	12	1	0	0	0	0	0	0	0	1	4344	1115	39	2		2	DDOST	1	20979149	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	17538346	20979149	228271472	2	1592											
HMGCL	3155	broad.mit.edu	37	1	24147070	24147070	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:24147070G>A	ENST00000374490.3	-	2	117	c.74C>T	c.(73-75)tCt>tTt	p.S25F	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.S25F|HMGCL_ENST00000374483.4_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	25					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		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;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AGTGCCCATAGATGAGGTGCT	0.403																																					p.S25F													.	HMGCL	22	0			c.C74T						.						133	119	124					1																	24147070		2203	4300	6503	SO:0001583	missense	3155	exon2			CCCATAGATGAGG	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.74C>T	1.37:g.24147070G>A	ENSP00000363614:p.Ser25Phe	95	0		24	3	NM_000191	B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	CCDS243.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747688	0.30955	.	.	ENSG00000117305	ENST00000374490;ENST00000436439	D;D	0.97924	-4.61;-4.39	5.27	4.32	0.51571	.	0.767739	0.12876	N	0.431849	D	0.92051	0.7481	N	0.08118	0	0.21627	N	0.999611	P;B;B	0.44309	0.832;0.077;0.077	B;B;B	0.31390	0.129;0.027;0.027	D	0.86591	0.1860	10	0.49607	T	0.09	-0.7447	16.1316	0.81445	0.0:0.1452:0.8548:0.0	.	25;25;25	B4DUP4;Q6IBC0;P35914	.;.;HMGCL_HUMAN	F	25	ENSP00000363614:S25F;ENSP00000389281:S25F	ENSP00000363614:S25F	S	-	2	0	HMGCL	24019657	0.517000	0.26226	0.106000	0.21319	0.887000	0.51463	3.273000	0.51623	2.759000	0.94783	0.558000	0.71614	TCT	.		0.403	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		A	24147070	G	A	24147070	3	1	12	1	0	0	0	0	1	0	0	0	7256	942	33	3	935	3	HMGCL	1	24147070	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	3167921	24147070	225103551	3	1593											
RUNX3	864	hgsc.bcm.edu	37	1	25229099	25229099	+	Silent	SNP	C	C	T	rs377188925		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:25229099C>T	ENST00000308873.6	-	5	770	c.762G>A	c.(760-762)acG>acA	p.T254T	RUNX3_ENST00000399916.1_Silent_p.T268T|RUNX3_ENST00000540420.1_Silent_p.T161T|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Silent_p.T268T	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	254	Pro/Ser/Thr-rich.				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)	p.T254T(1)|p.T268T(1)		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)		GGGTTGGCAGCGTGGGGAAGG	0.642																																					p.T268T		.											RUNX3_ENST00000399916,NS,carcinoma,0,2	RUNX3_ENST00000399916	0	2	Substitution - coding silent(2)	lung(2)	c.G804A						.	C	,	1,4385		0,1,2192	77	76	77		804,762	1.9	0.6	1		77	0,8572		0,0,4286	no	coding-synonymous,coding-synonymous	RUNX3	NM_001031680.2,NM_004350.2	,	0,1,6478	TT,TC,CC		0.0,0.0228,0.0077	,	268/430,254/416	25229099	1,12957	2193	4286	6479	SO:0001819	synonymous_variant	864	exon6			TGGCAGCGTGGGG	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.762G>A	1.37:g.25229099C>T		136	0		44	2	NM_001031680	B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	CCDS257.1																																																																																			.		0.642	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		T	25229099	C	T	25229099	2	4	12	1	0	0	0	0	0	0	0	1	13794	755	27	1		1	RUNX3	1	25229099	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	1082029	25229099	224021522	4	1594											
WASF2	10163	bcgsc.ca	37	1	27742558	27742558	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:27742558G>A	ENST00000430629.2	-	5	673	c.458C>T	c.(457-459)cCt>cTt	p.P153L	WASF2_ENST00000536657.1_Missense_Mutation_p.P153L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	153					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GAAGTATGAAGGGTCTGTGTA	0.458																																					p.P153L													.	WASF2	41	0			c.C458T						.						202	177	185					1																	27742558		2203	4300	6503	SO:0001583	missense	10163	exon5			TATGAAGGGTCTG	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.458C>T	1.37:g.27742558G>A	ENSP00000396211:p.Pro153Leu	88	0		28	3	NM_006990	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086807	0.76642	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.67523	-0.27;-0.27	5.64	5.64	0.86602	.	0.052035	0.85682	D	0.000000	D	0.85852	0.5793	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.68765	0.96;0.508	D	0.88566	0.3126	10	0.87932	D	0	-8.2979	19.3173	0.94220	0.0:0.0:1.0:0.0	.	153;153	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	L	153	ENSP00000396211:P153L;ENSP00000439883:P153L	ENSP00000396211:P153L	P	-	2	0	WASF2	27615145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.654000	0.90174	0.563000	0.77884	CCT	.		0.458	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		A	27742558	G	A	27742558	3	1	12	1	0	0	0	0	1	0	0	0	17302	1000	35	3	1058	3	WASF2	1	27742558	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	2513459	27742558	221508063	5	1595											
SERINC2	347735	hgsc.bcm.edu	37	1	31905889	31905889	+	Silent	SNP	A	A	G	rs3050461|rs5773362	byFrequency	TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:31905889A>G	ENST00000373709.3	+	9	1239	c.1089A>G	c.(1087-1089)acA>acG	p.T363T	SERINC2_ENST00000536859.1_Silent_p.T367T|SERINC2_ENST00000536384.1_Silent_p.T367T|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Silent_p.T372T	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	363					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TAGACGCCACACAGCAGCAGC	0.637																																					p.T372T		.											.,6	.	44	0			c.A1116G						.						57	49	52					1																	31905889		2202	4300	6502	SO:0001819	synonymous_variant	347735	exon10			CGCCACACAGCAG	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1089A>G	1.37:g.31905889A>G		48	0		12	1	NM_001199038	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	37	CCDS30662.1																																																																																			.		0.637	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		G	31905889	A	G	31905889	2	3	12	1	0	0	0	0	0	0	0	1	14125	146	6	4		4	SERINC2	1	31905889	Silent	SNP	A	TCGA-W5-AA2Q-01A-11D-A417-09	4163331	31905889	217344732	6	1596											
ZMYM1	79830	hgsc.bcm.edu	37	1	35579573	35579573	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:35579573G>T	ENST00000373330.1	+	11	2316	c.2142G>T	c.(2140-2142)caG>caT	p.Q714H	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.Q714H			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	714						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)				TACATGGCCAGGCCTATGATA	0.353																																					p.Q714H		.											ZMYM1,colon,carcinoma,0,1	ZMYM1	0	0			c.G2142T						.						66	63	64					1																	35579573		1830	4088	5918	SO:0001583	missense	79830	exon10			TGGCCAGGCCTAT	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.2142G>T	1.37:g.35579573G>T	ENSP00000362427:p.Gln714His	73	0		33	2	NM_024772	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	7.742	0.701502	0.15172	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.21543	2.0;2.0;2.0	4.24	0.241	0.15494	Ribonuclease H-like (1);	0.175681	0.28312	N	0.015815	T	0.45196	0.1330	M	0.89095	3.005	0.26237	N	0.978929	D;D	0.71674	0.996;0.998	D;D	0.81914	0.995;0.951	T	0.27502	-1.0072	9	.	.	.	-6.3792	7.1161	0.25416	0.5284:0.0:0.4716:0.0	.	695;714	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	H	714;639;714	ENSP00000352920:Q714H;ENSP00000362426:Q639H;ENSP00000362427:Q714H	.	Q	+	3	2	ZMYM1	35352160	1.000000	0.71417	0.984000	0.44739	0.016000	0.09150	0.572000	0.23684	0.053000	0.16036	-0.262000	0.10625	CAG	.		0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		T	35579573	G	T	35579573	3	4	12	1	0	0	0	0	1	0	0	0	17747	991	35	3	2176	3	ZMYM1	1	35579573	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	3673684	35579573	213671048	7	1597											
TIE1	7075	bcgsc.ca	37	1	43783044	43783044	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:43783044G>T	ENST00000372476.3	+	15	2663	c.2584G>T	c.(2584-2586)Ggg>Tgg	p.G862W	TIE1_ENST00000433781.2_Missense_Mutation_p.G507W|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	862	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CAAGAAGGACGGGCTGAAGAT	0.597																																					p.G862W													.	TIE1	132	0			c.G2584T						.						79	76	77					1																	43783044		2203	4300	6503	SO:0001583	missense	7075	exon15			AAGGACGGGCTGA	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.2584G>T	1.37:g.43783044G>T	ENSP00000361554:p.Gly862Trp	41	0		19	3	NM_005424	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268079	0.80469	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.73469	-0.75;-0.75	5.15	5.15	0.70609	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38837	N	0.001547	D	0.89774	0.6812	M	0.93016	3.37	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	D	0.92279	0.5832	10	0.87932	D	0	.	18.6195	0.91316	0.0:0.0:1.0:0.0	.	817;507;862	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	W	862;265;145;507	ENSP00000361554:G862W;ENSP00000411728:G507W	ENSP00000361553:G265W	G	+	1	0	TIE1	43555631	1.000000	0.71417	0.886000	0.34754	0.927000	0.56198	9.433000	0.97501	2.396000	0.81511	0.555000	0.69702	GGG	.		0.597	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		T	43783044	G	T	43783044	3	4	12	1	0	0	0	0	1	0	0	0	15940	1116	39	2	2642	2	TIE1	1	43783044	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	8203471	43783044	205467577	8	1598											
ZSWIM5	57643	ucsc.edu	37	1	45500112	45500112	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:45500112G>T	ENST00000359600.5	-	11	2526	c.2321C>A	c.(2320-2322)gCa>gAa	p.A774E	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	774						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)					TGTGTCGCCTGCAGAAGCTGA	0.537																																					p.A774E													.	ZSWIM5	72	0			c.C2321A						.						96	96	96					1																	45500112		1994	4166	6160	SO:0001583	missense	57643	exon11			TCGCCTGCAGAAG	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.2321C>A	1.37:g.45500112G>T	ENSP00000352614:p.Ala774Glu	69	0		35	4	NM_020883	Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.860388	0.91433	.	.	ENSG00000162415	ENST00000359600	T	0.43688	0.94	4.56	4.56	0.56223	.	0.290277	0.39475	N	0.001347	T	0.44953	0.1318	L	0.29908	0.895	0.41513	D	0.988351	P	0.51791	0.948	P	0.51657	0.676	T	0.44283	-0.9338	10	0.48119	T	0.1	-0.0762	18.2179	0.89893	0.0:0.0:1.0:0.0	.	774	Q9P217	ZSWM5_HUMAN	E	774	ENSP00000352614:A774E	ENSP00000352614:A774E	A	-	2	0	ZSWIM5	45272699	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	6.473000	0.73572	2.479000	0.83701	0.563000	0.77884	GCA	.		0.537	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		T	45500112	G	T	45500112	3	4	12	1	0	0	0	0	1	0	0	0	18292	1319	46	3	1252	3	ZSWIM5	1	45500112	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	1717068	45500112	203750509	9	1599											
ELAVL4	1996	hgsc.bcm.edu	37	1	50610818	50610818	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:50610818G>A	ENST00000371823.4	+	2	423	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	ELAVL4_ENST00000371819.1_Missense_Mutation_p.G72R|ELAVL4_ENST00000371824.1_Missense_Mutation_p.G67R|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G70R|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G67R|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G72R|ELAVL4_ENST00000357083.4_Missense_Mutation_p.G84R	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	67	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G67R(1)|p.G84R(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GAGTCTCTTCGGGAGCATTGG	0.428																																					p.G84R		.											ELAVL4_ENST00000357083,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	ELAVL4_ENST00000357083	0	2	Substitution - Missense(2)	central_nervous_system(2)	c.G250A						.						92	90	91					1																	50610818		2203	4300	6503	SO:0001583	missense	1996	exon2			CTCTTCGGGAGCA	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.199G>A	1.37:g.50610818G>A	ENSP00000360888:p.Gly67Arg	77	0		49	2	NM_001144775	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169884	0.94768	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	L	0.38175	1.15	0.80722	D	1	D;D;P;D;D;D;D	0.89917	1.0;0.962;0.937;1.0;0.999;0.999;1.0	D;B;B;D;P;P;D	0.63877	0.919;0.321;0.16;0.919;0.812;0.711;0.919	T	0.00377	-1.1778	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	72;72;67;67;84;67;70	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	R	70;67;84;67;67;72;72	ENSP00000399939:G70R;ENSP00000360892:G67R;ENSP00000349594:G84R;ENSP00000360889:G67R;ENSP00000360888:G67R;ENSP00000360886:G72R;ENSP00000360884:G72R	ENSP00000349594:G84R	G	+	1	0	ELAVL4	50383405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGG	.		0.428	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		A	50610818	G	A	50610818	3	1	12	1	0	0	0	0	1	0	0	0	5068	1116	39	1	304	1	ELAVL4	1	50610818	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	5110706	50610818	198639803	10	1600											
C1orf173	127254	hgsc.bcm.edu	37	1	75038477	75038477	+	Missense_Mutation	SNP	C	C	T	rs200414564		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:75038477C>T	ENST00000326665.5	-	14	3135	c.2917G>A	c.(2917-2919)Gca>Aca	p.A973T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		973	Glu-rich.							p.A973S(1)		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						CCAAGAATTGCCTCTTCAGAA	0.517																																					p.A973T		.											C1orf173,NS,carcinoma,0,1	C1orf173	0	1	Substitution - Missense(1)	lung(1)	c.G2917A						.						136	125	128					1																	75038477		2203	4300	6503	SO:0001583	missense	127254	exon14			GAATTGCCTCTTC																												ENST00000326665.5:c.2917G>A	1.37:g.75038477C>T	ENSP00000322609:p.Ala973Thr	40	0		19	2	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958576	0.74016	.	.	ENSG00000178965	ENST00000326665	T	0.16457	2.34	4.87	2.95	0.34219	.	.	.	.	.	T	0.06234	0.0161	L	0.40543	1.245	0.32010	N	0.602267	P	0.45126	0.851	B	0.43301	0.415	T	0.29792	-1.0000	9	0.21014	T	0.42	-1.3337	10.5312	0.44977	0.0:0.8342:0.0:0.1658	.	973	Q5RHP9	CA173_HUMAN	T	973	ENSP00000322609:A973T	ENSP00000322609:A973T	A	-	1	0	C1orf173	74811065	0.000000	0.05858	0.003000	0.11579	0.456000	0.32438	0.988000	0.29616	0.450000	0.26774	0.462000	0.41574	GCA	.		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			T	75038477	C	T	75038477	3	4	12	1	0	0	0	0	1	0	0	0	2021	739	26	3	1679	3	C1orf173	1	75038477	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	24427659	75038477	174212144	11	1601											
PSMA5	5686	hgsc.bcm.edu	37	1	109944658	109944658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:109944658C>A	ENST00000271308.4	-	9	723	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	PSMA5_ENST00000538610.1_Nonsense_Mutation_p.E177*|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	235					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)	cytoplasm (GO:0005737)|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(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		ATAACCTCTTCAAGTTCTTCC	0.418																																					p.E235X		.											.	.	.	0			c.G703T						.						150	148	149					1																	109944658		2203	4300	6503	SO:0001587	stop_gained	5686	exon9			CCTCTTCAAGTTC	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"Proteasome (prosome, macropain) subunits"	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.703G>T	1.37:g.109944658C>A	ENSP00000271308:p.Glu235*	89	0		59	4	NM_002790	B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Nonsense_Mutation	SNP	ENST00000271308.4	37	CCDS799.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263402	0.80358	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-27.3866	18.396	0.90499	0.0:1.0:0.0:0.0	.	.	.	.	X	177;235	.	ENSP00000271308:E235X	E	-	1	0	PSMA5	109746181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.612000	0.82975	2.882000	0.98803	0.655000	0.94253	GAA	.		0.418	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790		A	109944658	C	A	109944658	4	1	12	1	0	0	0	0	0	1	0	0	12712	835	29	3	26	3	PSMA5	1	109944658	Nonsense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	34906181	109944658	139305963	12	1602											
BCL9	607	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	147096004	147096004	+	Silent	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:147096004C>T	ENST00000234739.3	+	10	4265	c.3525C>T	c.(3523-3525)ggC>ggT	p.G1175G		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1175	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGGAGAAGGCCCCCTTGGCC	0.642			T	"IGH@, IGL@"	B-ALL																																p.G1175G				Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	BCL9	150	0			c.C3525T						.						35	40	38					1																	147096004		2203	4300	6503	SO:0001819	synonymous_variant	607	exon10			AGAAGGCCCCCTT	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3525C>T	1.37:g.147096004C>T		54	1		76	37	NM_004326	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																			.		0.642	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		T	147096004	C	T	147096004	2	4	12	1	0	0	0	0	0	0	0	1	1382	726	26	3		3	BCL9	1	147096004	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	37151346	147096004	102154617	13	1603											
PKLR	5313	bcgsc.ca	37	1	155271109	155271109	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:155271109G>T	ENST00000342741.4	-	1	116	c.78C>A	c.(76-78)tcC>tcA	p.S26S	PKLR_ENST00000392414.3_5'Flank	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	26					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAATCAGGATGGACTTTGCTA	0.522																																					p.S26S													.	PKLR	70	0			c.C78A						.						117	108	111					1																	155271109		2203	4300	6503	SO:0001819	synonymous_variant	5313	exon1			CAGGATGGACTTT	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.78C>A	1.37:g.155271109G>T		40	0		72	4	NM_000298	O75758|P11973	Silent	SNP	ENST00000342741.4	37	CCDS1109.1																																																																																			.		0.522	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		T	155271109	G	T	155271109	2	4	12	1	0	0	0	0	0	0	0	1	12015	1335	47	3		3	PKLR	1	155271109	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	8175105	155271109	93979512	14	1604											
NR1I3	9970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	161206261	161206261	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:161206261T>G	ENST00000367982.4	-	2	250	c.95A>C	c.(94-96)aAg>aCg	p.K32T	NR1I3_ENST00000502985.1_Missense_Mutation_p.K32T|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32T|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32T|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32T|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32T|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32T|NR1I3_ENST00000511944.1_Missense_Mutation_p.K32T|NR1I3_ENST00000367983.4_Missense_Mutation_p.K32T|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32T|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32T|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32T|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000511676.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	32					androgen receptor signaling pathway (GO:0030521)|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)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAAGAAACCCTTGCAGCCCTC	0.537																																					p.K32T		.											.	.	.	0			c.A95C						.						170	155	160					1																	161206261		2203	4300	6503	SO:0001583	missense	9970	exon2			AAACCCTTGCAGC	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.95A>C	1.37:g.161206261T>G	ENSP00000356961:p.Lys32Thr	59	0		115	11	NM_005122	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500010	0.85176	.	.	ENSG00000143257	ENST00000367983;ENST00000367980;ENST00000442691;ENST00000428574;ENST00000505005;ENST00000367982;ENST00000502985;ENST00000511944;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.44	5.44	0.79542	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.145674	0.64402	D	0.000014	D	0.99039	0.9671	M	0.90977	3.165	0.42742	D	0.993746	D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.997;0.997;0.997;0.989;0.999;0.997;0.989	D;D;D;D;D;D;P;D;D;P	0.85130	0.997;0.994;0.957;0.994;0.986;0.986;0.893;0.982;0.986;0.893	D	0.99690	1.1001	9	0.87932	D	0	.	13.502	0.61462	0.0:0.0:0.0:1.0	.	32;32;32;32;32;32;32;32;32;32	B7Z8R7;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q6GZ72;Q4U0F0;E9PB75	.;.;.;.;.;NR1I3_HUMAN;.;.;.;.	T	32	ENSP00000356962:K32T;ENSP00000356959:K32T;ENSP00000406493:K32T;ENSP00000412672:K32T;ENSP00000424934:K32T;ENSP00000356961:K32T;ENSP00000421374:K32T;ENSP00000426292:K32T;ENSP00000356963:K32T;ENSP00000356965:K32T;ENSP00000356958:K32T;ENSP00000427034:K32T	ENSP00000356958:K32T	K	-	2	0	NR1I3	159472885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.030000	0.76484	2.288000	0.76882	0.533000	0.62120	AAG	.		0.537	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			G	161206261	T	G	161206261	3	3	12	1	0	0	0	0	1	0	0	0	10660	1609	56	4	1105	4	NR1I3	1	161206261	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	5935152	161206261	88044360	15	1605											
HMCN1	83872	hgsc.bcm.edu	37	1	185902703	185902703	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:185902703G>T	ENST00000271588.4	+	11	1804	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	HMCN1_ENST00000367492.2_Silent_p.V525V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	525	Ig-like C2-type 2.				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						TCATCCAAGTGCCTAACAATG	0.423																																					p.V525V		.											.	.	.	0			c.G1575T						.						80	78	79					1																	185902703		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon11			CCAAGTGCCTAAC	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.1575G>T	1.37:g.185902703G>T		54	0		54	4	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			.		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185902703	G	T	185902703	2	4	12	1	0	0	0	0	0	0	0	1	7247	1306	46	3		3	HMCN1	1	185902703	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	24696442	185902703	63347918	16	1606											
ASPM	259266	hgsc.bcm.edu;bcgsc.ca	37	1	197071223	197071223	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:197071223G>T	ENST00000367409.4	-	18	7414	c.7158C>A	c.(7156-7158)caC>caA	p.H2386Q	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2386	IQ 24. {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						TCACAGCAGAGTGTCTTTGTC	0.438																																					p.H2386Q		.											.	.	.	0			c.C7158A						.						178	176	177					1																	197071223		2203	4299	6502	SO:0001583	missense	259266	exon18			AGCAGAGTGTCTT	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.7158C>A	1.37:g.197071223G>T	ENSP00000356379:p.His2386Gln	41	0		53	4	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	5.888	0.347940	0.11126	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.24908	1.83	4.25	-8.5	0.00927	.	0.593695	0.15277	N	0.270906	T	0.13586	0.0329	L	0.35288	1.05	0.09310	N	0.999995	P;B	0.38729	0.644;0.115	B;B	0.43301	0.415;0.173	T	0.12528	-1.0544	10	0.12430	T	0.62	.	5.4381	0.16492	0.1177:0.2439:0.469:0.1694	.	372;2386	E7EQ84;Q8IZT6	.;ASPM_HUMAN	Q	2386;372	ENSP00000356379:H2386Q	ENSP00000356376:H372Q	H	-	3	2	ASPM	195337846	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	-4.351000	0.00248	-1.994000	0.00972	-1.290000	0.01357	CAC	.		0.438	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		T	197071223	G	T	197071223	3	4	12	1	0	0	0	0	1	0	0	0	1057	1020	36	3	3319	3	ASPM	1	197071223	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	11168520	197071223	52179398	17	1607											
MAPKAPK2	9261	bcgsc.ca	37	1	206904533	206904533	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:206904533C>A	ENST00000367103.3	+	7	1011	c.818C>A	c.(817-819)cCg>cAg	p.P273Q	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.P273Q	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	273	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)			GCCATCTCTCCGGGCATGAAG	0.527																																					p.P273Q													.	MAPKAPK2	45	0			c.C818A						.						121	112	115					1																	206904533		2203	4300	6503	SO:0001583	missense	9261	exon7			TCTCTCCGGGCAT	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.818C>A	1.37:g.206904533C>A	ENSP00000356070:p.Pro273Gln	30	0		48	4	NM_004759	Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213372	0.95069	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.63744	-0.06;-0.06	5.62	5.62	0.85841	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	0.68137	0.2968	N	0.20807	0.61	0.80722	D	1	P;D	0.89917	0.929;1.0	P;D	0.79108	0.812;0.992	T	0.69217	-0.5203	9	0.44086	T	0.13	-23.5545	18.2248	0.89914	0.0:1.0:0.0:0.0	.	273;273	P49137;P49137-2	MAPK2_HUMAN;.	Q	273	ENSP00000294981:P273Q;ENSP00000356070:P273Q	ENSP00000294981:P273Q	P	+	2	0	MAPKAPK2	204971156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.796000	0.85898	2.659000	0.90383	0.655000	0.94253	CCG	.		0.527	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		A	206904533	C	A	206904533	3	1	12	1	0	0	0	0	1	0	0	0	9327	652	23	2	844	2	MAPKAPK2	1	206904533	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	9833310	206904533	42346088	18	1608											
AHCTF1	25909	hgsc.bcm.edu	37	1	247025439	247025439	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr1:247025439G>A	ENST00000391829.2	-	28	3680	c.3557C>T	c.(3556-3558)gCc>gTc	p.A1186V	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.A1221V|AHCTF1_ENST00000326225.3_Missense_Mutation_p.A1195V			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1186	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)			AACTGACATGGCCAAACTTTT	0.458																																					p.A1195V	Colon(145;197 1800 4745 15099 26333)	.											.	.	.	0			c.C3584T						.						57	57	57					1																	247025439		2203	4300	6503	SO:0001583	missense	25909	exon28			GACATGGCCAAAC		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.3557C>T	1.37:g.247025439G>A	ENSP00000375705:p.Ala1186Val	57	0		68	4	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	G	12.28	1.889347	0.33348	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35421	1.31;1.31;1.32	5.64	4.72	0.59763	.	0.344807	0.29868	N	0.010983	T	0.31979	0.0814	L	0.47190	1.495	0.32505	N	0.538309	P;P;B	0.47545	0.897;0.565;0.429	B;B;B	0.43809	0.432;0.107;0.029	T	0.37291	-0.9712	10	0.30078	T	0.28	-5.6762	9.6856	0.40096	0.1511:0.0:0.8489:0.0	.	47;1221;1186	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	V	1221;1195;1186	ENSP00000355464:A1221V;ENSP00000355465:A1195V;ENSP00000375705:A1186V	ENSP00000355465:A1195V	A	-	2	0	AHCTF1	245092062	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.161000	0.50747	2.667000	0.90743	0.650000	0.86243	GCC	.		0.458	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		A	247025439	G	A	247025439	3	1	12	1	0	0	0	0	1	0	0	0	408	1203	42	3	3279	3	AHCTF1	1	247025439	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	40120906	247025439	2225182	19	1609											
PSME4	23198	hgsc.bcm.edu	37	2	54101581	54101581	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:54101581G>T	ENST00000404125.1	-	43	5050	c.4995C>A	c.(4993-4995)ctC>ctA	p.L1665L	PSME4_ENST00000476586.1_Intron|PSME4_ENST00000421748.2_Silent_p.L809L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1665	Bromodomain-like (BRDL).				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)			CCATGGTCTGGAGGTAGGTCA	0.378																																					p.L1665L		.											PSME4,NS,carcinoma,0,1	PSME4	0	0			c.C4995A						.						88	85	86					2																	54101581		2203	4300	6503	SO:0001819	synonymous_variant	23198	exon43			GGTCTGGAGGTAG	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.4995C>A	2.37:g.54101581G>T		59	0		36	2	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			.		0.378	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		T	54101581	G	T	54101581	2	4	12	1	0	0	0	0	0	0	0	1	12751	1161	41	3		3	PSME4	2	54101581	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		54101581	189097792	20	1610											
XPO1	7514	bcgsc.ca	37	2	61711107	61711107	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:61711107G>T	ENST00000401558.2	-	21	3369	c.2642C>A	c.(2641-2643)gCt>gAt	p.A881D	RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.A881D|XPO1_ENST00000406957.1_Missense_Mutation_p.A881D|RP11-355B11.2_ENST00000605437.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	881					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)			ATGTTTGAAAGCCCAAATGAT	0.343			Mis		CLL																																p.A881D			-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	.	XPO1	108	0			c.C2642A						.						104	102	102					2																	61711107		2203	4300	6503	SO:0001583	missense	7514	exon21			TTGAAAGCCCAAA	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.2642C>A	2.37:g.61711107G>T	ENSP00000384863:p.Ala881Asp	126	0		72	4	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330731	0.95733	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.68624	-0.34;-0.34;-0.34	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.90237	0.4283	10	0.87932	D	0	-14.6569	20.0358	0.97557	0.0:0.0:1.0:0.0	.	528;881	B3KWD0;O14980	.;XPO1_HUMAN	D	881	ENSP00000384863:A881D;ENSP00000385942:A881D;ENSP00000385559:A881D	ENSP00000384863:A881D	A	-	2	0	XPO1	61564611	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.805000	0.96524	0.655000	0.94253	GCT	.		0.343	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		T	61711107	G	T	61711107	3	4	12	1	0	0	0	0	1	0	0	0	17494	971	34	3	593	3	XPO1	2	61711107	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	7609526	61711107	181488266	21	1611											
ZNF638	27332	hgsc.bcm.edu	37	2	71661914	71661914	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:71661914G>T	ENST00000409544.1	+	28	6544	c.5914G>T	c.(5914-5916)Gct>Tct	p.A1972S	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.A912S|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1972S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1972					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						GCAGAATGAGGCTGAAGAAAG	0.333																																					p.A1972S		.											.	.	.	0			c.G5914T						.						74	87	83					2																	71661914		2203	4300	6503	SO:0001583	missense	27332	exon28			AATGAGGCTGAAG	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.5914G>T	2.37:g.71661914G>T	ENSP00000386433:p.Ala1972Ser	140	0		92	4	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725012	0.48833	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.34667	1.35;1.35;1.73	5.97	0.996	0.19844	.	0.594972	0.16106	N	0.229314	T	0.21307	0.0513	L	0.36672	1.1	0.80722	D	1	B;B	0.27068	0.167;0.104	B;B	0.31101	0.124;0.036	T	0.08973	-1.0696	10	0.14252	T	0.57	-0.0056	1.6978	0.02866	0.2399:0.14:0.4756:0.1444	.	1951;1972	Q14966-3;Q14966	.;ZN638_HUMAN	S	1972;1972;912	ENSP00000264447:A1972S;ENSP00000386433:A1972S;ENSP00000386813:A912S	ENSP00000264447:A1972S	A	+	1	0	ZNF638	71515422	0.995000	0.38212	0.994000	0.49952	0.996000	0.88848	0.812000	0.27211	-0.094000	0.12374	0.591000	0.81541	GCT	.		0.333	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		T	71661914	G	T	71661914	3	4	12	1	0	0	0	0	1	0	0	0	18103	1203	42	3	6020	3	ZNF638	2	71661914	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	9950807	71661914	171537459	22	1612											
FER1L5	81562	hgsc.bcm.edu	37	2	97370411	97370411	+	IGR	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:97370411T>C	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TCCCAGAACTTCCAGCCCCAG	0.507																																					p.L2088L		.											FER1L5,colon,carcinoma,0,1	FER1L5	0	0			c.T6264C						.						62	62	62					2																	97370411		1868	4093	5961	SO:0001628	intergenic_variant	90342	exon52			AGAACTTCCAGCC	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97370411T>C		37	0		36	2	NM_001113382	B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	CCDS2023.1																																																																																			.		0.507	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		C	97370411	T	C	97370411	1	2	12	0	1	0	0	0	0	0	0	0	5836	1770	62	4		4	FER1L5	2	97370411	IGR	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	25708497	97370411	145828962	23	1613											
SEMA4C	54910	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	97530504	97530504	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:97530504C>T	ENST00000305476.5	-	9	1032	c.900G>A	c.(898-900)atG>atA	p.M300I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	300	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						GCAGGGTGTGCATCGCCTGCA	0.617																																					p.M300I		.											.	.	.	0			c.G900A						.						74	77	76					2																	97530504		2203	4300	6503	SO:0001583	missense	54910	exon9			GGTGTGCATCGCC	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.900G>A	2.37:g.97530504C>T	ENSP00000306844:p.Met300Ile	65	0		27	4	NM_017789	Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245742	0.39697	.	.	ENSG00000168758	ENST00000305476	T	0.26518	1.73	5.97	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.568416	0.18388	N	0.142745	T	0.11239	0.0274	N	0.04805	-0.155	0.19945	N	0.999941	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.005	T	0.22382	-1.0218	10	0.39692	T	0.17	.	5.4828	0.16733	0.0:0.5067:0.2716:0.2217	.	300;10	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	I	300	ENSP00000306844:M300I	ENSP00000306844:M300I	M	-	3	0	SEMA4C	96894231	0.001000	0.12720	0.750000	0.31169	0.910000	0.53928	-0.771000	0.04699	0.398000	0.25338	0.655000	0.94253	ATG	.		0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		T	97530504	C	T	97530504	3	4	12	1	0	0	0	0	1	0	0	0	14078	710	25	3	1629	3	SEMA4C	2	97530504	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	160093	97530504	145668869	24	1614											
CCNT2	905	broad.mit.edu	37	2	135711353	135711353	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:135711353G>T	ENST00000264157.5	+	9	1358	c.1328G>T	c.(1327-1329)cGt>cTt	p.R443L	CCNT2_ENST00000295238.6_Missense_Mutation_p.R443L|CCNT2_ENST00000537343.1_Missense_Mutation_p.R268L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	443					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGAGAAAAGCGTAAACTAGAA	0.423																																					p.R443L													.	CCNT2	98	0			c.G1328T						.						51	53	53					2																	135711353		2203	4300	6503	SO:0001583	missense	905	exon9			AAAAGCGTAAACT	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1328G>T	2.37:g.135711353G>T	ENSP00000264157:p.Arg443Leu	30	0		46	3	NM_058241	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332450	0.60853	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.34667	1.35;1.35	5.71	5.71	0.89125	.	0.045307	0.85682	D	0.000000	T	0.59783	0.2219	M	0.69823	2.125	0.80722	D	1	D;D;D	0.67145	0.988;0.994;0.996	P;P;P	0.61874	0.895;0.762;0.88	T	0.60944	-0.7162	10	0.66056	D	0.02	.	19.8769	0.96880	0.0:0.0:1.0:0.0	.	268;443;443	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	L	268;443;443	ENSP00000295238:R443L;ENSP00000264157:R443L	ENSP00000264157:R443L	R	+	2	0	CCNT2	135427823	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.778000	0.68940	2.712000	0.92718	0.650000	0.86243	CGT	.		0.423	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		T	135711353	G	T	135711353	3	4	12	1	0	0	0	0	1	0	0	0	2942	1145	40	2	1362	2	CCNT2	2	135711353	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	38180849	135711353	107488020	25	1615											
LRP1B	53353	hgsc.bcm.edu	37	2	141128375	141128375	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:141128375G>T	ENST00000389484.3	-	71	11883	c.10912C>A	c.(10912-10914)Cgg>Agg	p.R3638R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3638	LDL-receptor class A 29. {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)	p.R3638W(1)		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)		TTTTTGCACCGAAACTGATCT	0.383										TSP Lung(27;0.18)																											p.R3638R	Colon(99;50 2074 2507 20106)	.											LRP1B,bladder,carcinoma,0,1	LRP1B	0	1	Substitution - Missense(1)	urinary_tract(1)	c.C10912A						.						177	164	168					2																	141128375		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon71			TGCACCGAAACTG	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.10912C>A	2.37:g.141128375G>T		43	0		47	2	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141128375	G	T	141128375	2	4	12	1	0	0	0	0	0	0	0	1	8990	1057	37	2		2	LRP1B	2	141128375	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	5417022	141128375	102070998	26	1616											
TTN	7273	hgsc.bcm.edu	37	2	179447086	179447086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:179447086C>A	ENST00000591111.1	-	264	61398	c.61174G>T	c.(61174-61176)Gaa>Taa	p.E20392*	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E13093*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E22033*|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E13160*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E19465*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E12968*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20392	Fibronectin type-III 47. {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.E13093*(1)|p.E13160*(1)|p.E19465*(1)|p.E12968*(1)|p.E19463*(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)			TATTTATTTTCAGCACAAATA	0.448																																					p.E22033X		.											TTN_ENST00000359218,NS,carcinoma,0,5	TTN_ENST00000359218	0	5	Substitution - Nonsense(5)	lung(5)	c.G66097T						.						51	48	49					2																	179447086		1883	4108	5991	SO:0001587	stop_gained	7273	exon314			TATTTTCAGCACA	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.61174G>T	2.37:g.179447086C>A	ENSP00000465570:p.Glu20392*	84	0		49	2	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	61	61.142966	0.99990	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.09310	A	1e-37	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1723	0.98160	0.0:1.0:0.0:0.0	.	.	.	.	X	19465;12968;13160;13093;12966	.	ENSP00000340554:E13160X	E	-	1	0	TTN	179155332	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.770000	0.85390	2.768000	0.95171	0.655000	0.94253	GAA	.		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179447086	C	A	179447086	4	1	12	1	0	0	0	0	0	1	0	0	16784	835	29	3	42078	3	TTN	2	179447086	Nonsense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	38318711	179447086	63752287	27	1617											
TTN	7273	bcgsc.ca	37	2	179655547	179655547	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:179655547G>T	ENST00000591111.1	-	11	1912	c.1688C>A	c.(1687-1689)gCt>gAt	p.A563D	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A563D|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A563D|TTN_ENST00000360870.5_Missense_Mutation_p.A563D|TTN_ENST00000460472.2_Intron			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)			CATGGATGCAGCAGTTATCTC	0.398																																					p.A563D													.	TTN	18412	0			c.C1688A						.						195	175	181					2																	179655547		2203	4300	6503	SO:0001583	missense	7273	exon11			GATGCAGCAGTTA	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.1688C>A	2.37:g.179655547G>T	ENSP00000465570:p.Ala563Asp	114	0		63	4	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		.	.	.	.	.	.	.	.	.	.	G	12.86	2.064040	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000360870	T;T	0.63417	-0.04;-0.04	5.07	4.19	0.49359	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.53012	0.1770	N	0.24115	0.695	0.80722	D	1	B;D	0.53462	0.157;0.96	B;P	0.46110	0.091;0.504	T	0.60177	-0.7314	9	0.87932	D	0	.	13.641	0.62251	0.0742:0.0:0.9258:0.0	.	563;563	Q8WZ42;Q8WZ42-6	TITIN_HUMAN;.	D	563	ENSP00000343764:A563D;ENSP00000354117:A563D	ENSP00000343764:A563D	A	-	2	0	TTN	179363792	0.905000	0.30787	0.939000	0.37840	0.972000	0.66771	6.072000	0.71238	1.370000	0.46153	0.655000	0.94253	GCT	.		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179655547	G	T	179655547	3	4	12	1	0	0	0	0	1	0	0	0	16784	971	34	3	109708	3	TTN	2	179655547	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	208461	179655547	63543826	28	1618											
ANKRD44	91526	hgsc.bcm.edu	37	2	198051784	198051784	+	Missense_Mutation	SNP	C	C	A	rs149690877		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:198051784C>A	ENST00000409153.1	-	2	256	c.74G>T	c.(73-75)cGg>cTg	p.R25L	ANKRD44_ENST00000409919.1_Missense_Mutation_p.R25L|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000328737.2_5'UTR|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R17L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	25										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)			GATGAGCATCCGGATCTCCTC	0.438																																					p.R25L		.											ANKRD44_ENST00000409919,NS,carcinoma,0,2	ANKRD44_ENST00000409919	0	0			c.G74T						.						187	186	186					2																	198051784		2203	4300	6503	SO:0001583	missense	91526	exon2			AGCATCCGGATCT	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	ENST00000409153.1:c.74G>T	2.37:g.198051784C>A	ENSP00000387141:p.Arg25Leu	68	0		41	2	NM_153697	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000409153.1	37		.	.	.	.	.	.	.	.	.	.	C	17.08	3.298442	0.60195	.	.	ENSG00000065413	ENST00000282272;ENST00000409153;ENST00000409919	T;T;T	0.66815	-0.23;-0.23;-0.23	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.73830	0.3637	L	0.33668	1.02	0.80722	D	1	B;D	0.63046	0.098;0.992	B;D	0.70487	0.167;0.969	T	0.76055	-0.3099	9	0.72032	D	0.01	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	25;25	Q8N8A2;Q8N8A2-3	ANR44_HUMAN;.	L	17;25;25	ENSP00000282272:R17L;ENSP00000387141:R25L;ENSP00000387233:R25L	ENSP00000282272:R17L	R	-	2	0	ANKRD44	197760029	1.000000	0.71417	0.994000	0.49952	0.721000	0.41392	4.290000	0.59019	2.708000	0.92522	0.650000	0.86243	CGG	.		0.438	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		A	198051784	C	A	198051784	3	1	12	1	0	0	0	0	1	0	0	0	672	667	23	2	2860	2	ANKRD44	2	198051784	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	18396237	198051784	45147589	29	1619											
SLC23A3	151295	bcgsc.ca	37	2	220029918	220029918	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:220029918G>T	ENST00000409878.3	-	8	1172	c.1140C>A	c.(1138-1140)ccC>ccA	p.P380P	SLC23A3_ENST00000455516.2_Silent_p.P388P|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	380					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)		TGCCCACGTTGGGGAAGCTGG	0.622																																					p.P388P													.	SLC23A3	60	0			c.C1164A						.						13	19	17					2																	220029918		691	1589	2280	SO:0001819	synonymous_variant	151295	exon8			CACGTTGGGGAAG	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.1140C>A	2.37:g.220029918G>T		40	0		41	4	NM_001144890	B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	CCDS46518.1																																																																																			.		0.622	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		T	220029918	G	T	220029918	2	4	12	1	0	0	0	0	0	0	0	1	14509	1335	47	3		3	SLC23A3	2	220029918	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	21978134	220029918	23169455	30	1620											
ACSL3	2181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	223793606	223793606	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:223793606G>A	ENST00000357430.3	+	13	2023	c.1492G>A	c.(1492-1494)Gga>Aga	p.G498R	ACSL3_ENST00000392066.3_Missense_Mutation_p.G498R	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	498					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)	TGGCAGAGTGGGAGCACCATT	0.313			T	ETV1	prostate																																p.G498R		.		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	.	0			c.G1492A						.						99	103	101					2																	223793606		2203	4300	6503	SO:0001583	missense	2181	exon12			AGAGTGGGAGCAC	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.1492G>A	2.37:g.223793606G>A	ENSP00000350012:p.Gly498Arg	92	0		61	6	NM_203372	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643690	0.87859	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.65178	-0.14;-0.14	5.56	4.66	0.58398	AMP-dependent synthetase/ligase (1);	0.101591	0.64402	D	0.000002	D	0.88340	0.6410	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93395	0.6755	10	0.87932	D	0	-16.2221	15.5574	0.76208	0.0:0.0:0.8609:0.1391	.	498	O95573	ACSL3_HUMAN	R	498	ENSP00000350012:G498R;ENSP00000375918:G498R	ENSP00000350012:G498R	G	+	1	0	ACSL3	223501850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.313000	0.45069	0.561000	0.74099	GGA	.		0.313	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		A	223793606	G	A	223793606	3	1	12	1	0	0	0	0	1	0	0	0	178	1233	43	3	1530	3	ACSL3	2	223793606	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	3763688	223793606	19405767	31	1621											
ARMC9	80210	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	232070973	232070973	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:232070973G>A	ENST00000349938.4	+	2	216	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	8	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					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)		TCTGGCTCATGAATCTGAATT	0.348																																					p.E8K		.											.	.	.	0			c.G22A						.						116	114	115					2																	232070973		2203	4300	6503	SO:0001583	missense	80210	exon2			GCTCATGAATCTG	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.22G>A	2.37:g.232070973G>A	ENSP00000258417:p.Glu8Lys	64	0		47	8	NM_025139	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525625	0.85600	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.58060	2.07;0.36	5.2	5.2	0.72013	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	L	0.50333	1.59	0.53005	D	0.999968	D	0.89917	1.0	D	0.87578	0.998	T	0.66352	-0.5945	10	0.41790	T	0.15	-20.9748	17.5249	0.87796	0.0:0.0:1.0:0.0	.	8	Q7Z3E5	ARMC9_HUMAN	K	8	ENSP00000258417:E8K;ENSP00000387391:E8K	ENSP00000258417:E8K	E	+	1	0	ARMC9	231779217	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	7.662000	0.83803	2.437000	0.82529	0.655000	0.94253	GAA	.		0.348	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		A	232070973	G	A	232070973	3	1	12	1	0	0	0	0	1	0	0	0	959	1291	45	3	24	3	ARMC9	2	232070973	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	8277367	232070973	11128400	32	1622											
ATG16L1	55054	hgsc.bcm.edu	37	2	234189793	234189793	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:234189793G>T	ENST00000392017.4	+	11	1360	c.1103G>T	c.(1102-1104)gGa>gTa	p.G368V	ATG16L1_ENST00000392018.1_Missense_Mutation_p.G385V|ATG16L1_ENST00000347464.5_Missense_Mutation_p.G205V|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Missense_Mutation_p.G349V|ATG16L1_ENST00000373525.5_Splice_Site_p.G189V	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)	368					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)		AGTAATGCAGGAATTACAAGC	0.279																																					p.G368V		.											.	.	.	0			c.G1103T						.						96	102	100					2																	234189793		2203	4300	6503	SO:0001583	missense	55054	exon11			ATGCAGGAATTAC	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.1103G>T	2.37:g.234189793G>T	ENSP00000375872:p.Gly368Val	88	0		77	4	NM_030803	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720295	0.89205	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.42	5.42	0.78866	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	0.78710	0.4326	M	0.87456	2.885	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	0.97110	0.997;1.0;0.998;1.0;0.998	T	0.75841	-0.3175	10	0.16420	T	0.52	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	322;349;189;368;205	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	V	368;205;189;349;385;27	ENSP00000375872:G368V;ENSP00000318259:G205V;ENSP00000362625:G189V;ENSP00000375875:G349V;ENSP00000375873:G385V	ENSP00000334016:G27V	G	+	2	0	ATG16L1	233854532	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.937000	0.92936	2.542000	0.85734	0.655000	0.94253	GGA	.		0.279	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		T	234189793	G	T	234189793	3	4	12	1	0	0	0	0	1	0	0	0	1092	1174	41	3	1145	3	ATG16L1	2	234189793	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	2118820	234189793	9009580	33	1623											
PER2	8864	hgsc.bcm.edu	37	2	239164502	239164502	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr2:239164502C>A	ENST00000254657.3	-	18	2395	c.2116G>T	c.(2116-2118)Ggc>Tgc	p.G706C	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	706	CSNK1E binding domain. {ECO:0000250}.				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)	p.G706C(2)		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)		AGGGCAGGGCCCGCCAGGCAG	0.587																																					p.G706C		.											PER2,NS,carcinoma,0,1	PER2	0	2	Substitution - Missense(2)	lung(2)	c.G2116T						.						77	86	83					2																	239164502		2203	4300	6503	SO:0001583	missense	8864	exon18			CAGGGCCCGCCAG	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.2116G>T	2.37:g.239164502C>A	ENSP00000254657:p.Gly706Cys	53	0		26	2	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064878	0.36470	.	.	ENSG00000132326	ENST00000254657	T	0.11277	2.79	3.65	3.65	0.41850	.	0.722697	0.13874	N	0.356800	T	0.28134	0.0694	L	0.53249	1.67	0.19775	N	0.99996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.922	T	0.03335	-1.1047	10	0.66056	D	0.02	-27.3625	13.1967	0.59743	0.0:1.0:0.0:0.0	.	706;706	B4DH14;O15055	.;PER2_HUMAN	C	706	ENSP00000254657:G706C	ENSP00000254657:G706C	G	-	1	0	PER2	238829241	0.075000	0.21258	0.222000	0.23844	0.036000	0.12997	1.619000	0.36965	1.735000	0.51646	0.555000	0.69702	GGC	.		0.587	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		A	239164502	C	A	239164502	3	1	12	1	0	0	0	0	1	0	0	0	11769	623	22	3	1675	3	PER2	2	239164502	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	4974709	239164502	4034871	34	1624											
TGFBR2	7048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	30686282	30686282	+	Silent	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:30686282G>A	ENST00000295754.5	+	2	520	c.138G>A	c.(136-138)aaG>aaA	p.K46K	TGFBR2_ENST00000359013.4_Silent_p.K71K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	46					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						GTGCAGTCAAGTTTCCACAAC	0.428																																					p.K71K		.											.	.	.	0			c.G213A						.						103	95	97					3																	30686282		2203	4300	6503	SO:0001819	synonymous_variant	7048	exon3			AGTCAAGTTTCCA		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.138G>A	3.37:g.30686282G>A		52	0		32	11	NM_001024847	B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	CCDS2648.1																																																																																			.		0.428	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			A	30686282	G	A	30686282	2	1	12	1	0	0	0	0	0	0	0	1	15869	1020	36	3		3	TGFBR2	3	30686282	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		30686282	167336148	35	1625											
CLASP2	23122	hgsc.bcm.edu	37	3	33592749	33592749	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:33592749G>T	ENST00000468888.2	-	30	3218	c.3172C>A	c.(3172-3174)Cgg>Agg	p.R1058R	CLASP2_ENST00000461133.3_Silent_p.R817R|CLASP2_ENST00000399362.4_Silent_p.R1057R|CLASP2_ENST00000480013.1_Silent_p.R837R|CLASP2_ENST00000539981.1_Silent_p.R827R|CLASP2_ENST00000307312.7_Silent_p.R539R|CLASP2_ENST00000359576.5_Silent_p.R1049R			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	838	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				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						TATACCTTCCGAACATCAGAA	0.388																																					p.R1059R		.											CLASP2,NS,carcinoma,0,1	CLASP2	0	0			c.C3175A						.						89	86	87					3																	33592749		1812	4073	5885	SO:0001819	synonymous_variant	23122	exon30			CCTTCCGAACATC	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.3172C>A	3.37:g.33592749G>T		95	0		48	2	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	G	9.306	1.054334	0.19907	.	.	ENSG00000163539	ENST00000480385	.	.	.	5.27	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.359	11.3481	0.49573	0.0:0.0:0.5241:0.4758	.	.	.	.	X	113	.	.	S	-	2	0	CLASP2	33567753	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.820000	0.55693	1.275000	0.44379	0.591000	0.81541	TCG	.		0.388	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		T	33592749	G	T	33592749	2	4	12	1	0	0	0	0	0	0	0	1	3462	1057	37	2		2	CLASP2	3	33592749	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	2906467	33592749	164429681	36	1626											
TRANK1	9881	ucsc.edu;bcgsc.ca	37	3	36896814	36896814	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:36896814C>A	ENST00000429976.2	-	12	4514	c.4267G>T	c.(4267-4269)Gcc>Tcc	p.A1423S	TRANK1_ENST00000428977.2_Missense_Mutation_p.A873S|TRANK1_ENST00000301807.6_Missense_Mutation_p.A873S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1423							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						ATGCTCTGGGCCGTGTCCCCC	0.547																																					p.A1423S													.	TRANK1	398	0			c.G4267T						.						128	125	126					3																	36896814		2070	4213	6283	SO:0001583	missense	9881	exon12			TCTGGGCCGTGTC	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.4267G>T	3.37:g.36896814C>A	ENSP00000416168:p.Ala1423Ser	46	0		15	4	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381027	0.82792	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82711	-1.64;-1.64;-1.64	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000013	D	0.92407	0.7590	M	0.85777	2.775	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	D	0.92683	0.6160	10	0.66056	D	0.02	.	19.8624	0.96787	0.0:1.0:0.0:0.0	.	1423	O15050	TRNK1_HUMAN	S	873;1423;873	ENSP00000416826:A873S;ENSP00000416168:A1423S;ENSP00000301807:A873S	ENSP00000301807:A873S	A	-	1	0	TRANK1	36871818	1.000000	0.71417	0.915000	0.36163	0.956000	0.61745	6.025000	0.70864	2.780000	0.95670	0.561000	0.74099	GCC	.		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		A	36896814	C	A	36896814	3	1	12	1	0	0	0	0	1	0	0	0	16502	739	26	3	4558	3	TRANK1	3	36896814	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	3304065	36896814	161125616	37	1627											
CCR1	1230	ucsc.edu	37	3	46245105	46245105	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:46245105T>C	ENST00000296140.3	-	2	825	c.700A>G	c.(700-702)Aaa>Gaa	p.K234E	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	234					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)		GCTTTGGATTTCTTCTCATTT	0.378																																					p.K234E													.	CCR1	36	0			c.A700G						.						62	61	61					3																	46245105		2203	4300	6503	SO:0001583	missense	1230	exon2			TGGATTTCTTCTC		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.700A>G	3.37:g.46245105T>C	ENSP00000296140:p.Lys234Glu	62	0		34	4	NM_001295	Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280429	0.80692	.	.	ENSG00000163823	ENST00000296140	T	0.69306	-0.39	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.069902	0.64402	D	0.000018	D	0.84392	0.5462	M	0.88310	2.945	0.48696	D	0.99969	D	0.89917	1.0	D	0.97110	1.0	D	0.87702	0.2561	10	0.87932	D	0	.	15.5574	0.76208	0.0:0.0:0.0:1.0	.	234	P32246	CCR1_HUMAN	E	234	ENSP00000296140:K234E	ENSP00000296140:K234E	K	-	1	0	CCR1	46220109	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.981000	0.88123	2.138000	0.66242	0.523000	0.50628	AAA	.		0.378	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		C	46245105	T	C	46245105	3	2	12	1	0	0	0	0	1	0	0	0	2946	1792	62	4	371	4	CCR1	3	46245105	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	9348291	46245105	151777325	38	1628											
NCKIPSD	51517	ucsc.edu;bcgsc.ca	37	3	48712059	48712059	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:48712059G>T	ENST00000294129.2	-	13	2206	c.2087C>A	c.(2086-2088)aCc>aAc	p.T696N	RP11-572O6.1_ENST00000607025.1_lincRNA|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.T689N|NCKIPSD_ENST00000341520.4_Intron	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	696					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)		CTGGGGTGAGGTCTCCTCCTC	0.607																																					p.T696N													.	NCKIPSD	52	0			c.C2087A						.						127	105	112					3																	48712059		2203	4300	6503	SO:0001583	missense	51517	exon13			GGTGAGGTCTCCT	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.2087C>A	3.37:g.48712059G>T	ENSP00000294129:p.Thr696Asn	23	0		17	4	NM_016453	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	g	9.867	1.197772	0.22037	.	.	ENSG00000213672	ENST00000416649;ENST00000294129	T;T	0.30448	1.53;1.53	5.42	1.14	0.20703	.	.	.	.	.	T	0.14570	0.0352	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.18166	0.015;0.026	B;B	0.17722	0.008;0.019	T	0.30707	-0.9969	9	0.18710	T	0.47	.	4.68	0.12731	0.0803:0.1043:0.4641:0.3513	.	696;689	Q9NZQ3;Q9NZQ3-3	SPN90_HUMAN;.	N	689;696	ENSP00000389059:T689N;ENSP00000294129:T696N	ENSP00000294129:T696N	T	-	2	0	NCKIPSD	48687063	0.422000	0.25473	0.085000	0.20634	0.679000	0.39708	2.938000	0.48987	0.594000	0.29761	0.543000	0.68304	ACC	.		0.607	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		T	48712059	G	T	48712059	3	4	12	1	0	0	0	0	1	0	0	0	10264	1261	44	3	85	3	NCKIPSD	3	48712059	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	2466954	48712059	149310371	39	1629											
CACNA2D2	9254	bcgsc.ca	37	3	50403587	50403587	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:50403587C>T	ENST00000479441.1	-	33	2737	c.2738G>A	c.(2737-2739)aGg>aAg	p.R913K	XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R914K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R906K|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R913K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R907K|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R837K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R906K|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R906K|XXcos-LUCA11.4_ENST00000607583.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	913					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)	ACTGAAGAACCTGCCCACCTG	0.537																																					p.R913K													.	CACNA2D2	82	0			c.G2738A						.						161	151	155					3																	50403587		2203	4300	6503	SO:0001583	missense	9254	exon33			AAGAACCTGCCCA	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.2738G>A	3.37:g.50403587C>T	ENSP00000418081:p.Arg913Lys	33	0		25	4	NM_001174051	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227928	0.39399	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	4.97	3.96	0.45880	.	0.466449	0.22899	N	0.054300	T	0.44871	0.1314	N	0.03154	-0.405	0.27354	N	0.956169	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.14868	-1.0457	10	0.25751	T	0.34	-18.066	3.8104	0.08795	0.0:0.7171:0.0:0.2829	.	913;906	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	K	914;907;906;837;913;906;906;913	ENSP00000407393:R914K;ENSP00000404631:R907K;ENSP00000266039:R906K;ENSP00000354228:R837K;ENSP00000390526:R913K;ENSP00000378519:R906K;ENSP00000390329:R906K;ENSP00000418081:R913K	ENSP00000266039:R906K	R	-	2	0	CACNA2D2	50378591	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.804000	0.38873	2.298000	0.77334	0.561000	0.74099	AGG	.		0.537	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		T	50403587	C	T	50403587	3	4	12	1	0	0	0	0	1	0	0	0	2556	681	24	3	748	3	CACNA2D2	3	50403587	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	1691528	50403587	147618843	40	1630											
IQCB1	9657	hgsc.bcm.edu	37	3	121508986	121508986	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:121508986G>T	ENST00000310864.6	-	11	1277	c.1063C>A	c.(1063-1065)Caa>Aaa	p.Q355K	IQCB1_ENST00000349820.6_Missense_Mutation_p.Q222K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	355					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.Q355*(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTCTGTCTTTGAAGTTGCAAT	0.398																																					p.Q355K		.											IQCB1,NS,carcinoma,0,1	IQCB1	0	1	Substitution - Nonsense(1)	lung(1)	c.C1063A						.						246	229	235					3																	121508986		2203	4300	6503	SO:0001583	missense	9657	exon11			GTCTTTGAAGTTG	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1063C>A	3.37:g.121508986G>T	ENSP00000311505:p.Gln355Lys	75	0		41	2	NM_001023570	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.164086	0.21538	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.37058	1.22;1.33	4.92	3.04	0.35103	.	0.217108	0.48767	D	0.000177	T	0.25644	0.0624	L	0.41236	1.265	0.32373	N	0.555606	B;P	0.41450	0.104;0.75	B;B	0.36808	0.024;0.233	T	0.25467	-1.0131	10	0.13108	T	0.6	-3.8352	13.0898	0.59160	0.0:0.3092:0.6908:0.0	.	355;222	Q15051;Q15051-2	IQCB1_HUMAN;.	K	355;222	ENSP00000311505:Q355K;ENSP00000323756:Q222K	ENSP00000311505:Q355K	Q	-	1	0	IQCB1	122991676	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	3.935000	0.56560	0.710000	0.31997	0.650000	0.86243	CAA	.		0.398	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		T	121508986	G	T	121508986	3	4	12	1	0	0	0	0	1	0	0	0	7830	1299	45	3	753	3	IQCB1	3	121508986	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	71105399	121508986	76513444	41	1631											
ATR	545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	142168326	142168326	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:142168326G>A	ENST00000350721.4	-	47	8001	c.7880C>T	c.(7879-7881)gCt>gTt	p.A2627V	XRN1_ENST00000392981.2_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000465074.1_5'Flank|ATR_ENST00000383101.3_Missense_Mutation_p.A2563V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2627	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				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						TTCATCAGTAGCTTCCTGTAT	0.358								Other conserved DNA damage response genes																													p.A2627V		.											.	.	.	0			c.C7880T						.						123	118	120					3																	142168326		2203	4300	6503	SO:0001583	missense	545	exon47			TCAGTAGCTTCCT	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.7880C>T	3.37:g.142168326G>A	ENSP00000343741:p.Ala2627Val	83	0		33	17	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	36	5.674465	0.96764	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	D;D	0.97430	-4.38;-4.38	5.46	5.46	0.80206	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98660	1.0683	10	0.87932	D	0	-14.8997	19.3783	0.94521	0.0:0.0:1.0:0.0	.	2627	Q13535	ATR_HUMAN	V	2627;2563	ENSP00000343741:A2627V;ENSP00000372581:A2563V	ENSP00000343741:A2627V	A	-	2	0	ATR	143651016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.792000	0.99085	2.591000	0.87537	0.650000	0.86243	GCT	.		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142168326	G	A	142168326	3	1	12	1	0	0	0	0	1	0	0	0	1205	971	34	3	58	3	ATR	3	142168326	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	20659340	142168326	55854104	42	1632											
MFN1	55669	hgsc.bcm.edu	37	3	179082161	179082161	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:179082161G>T	ENST00000471841.1	+	6	739	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F	MFN1_ENST00000280653.7_Missense_Mutation_p.V205F|MFN1_ENST00000263969.5_Missense_Mutation_p.V205F	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	205	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTTGTTTTGGTCGCAAACTC	0.353																																					p.V205F		.											.	.	.	0			c.G613T						.						135	126	129					3																	179082161		2203	4300	6503	SO:0001583	missense	55669	exon6			GTTTTGGTCGCAA	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.613G>T	3.37:g.179082161G>T	ENSP00000420617:p.Val205Phe	86	0		44	4	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168992	0.78339	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.98280	-4.6;-4.6;-4.6;-4.84;-4.84	5.24	5.24	0.73138	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.93062	3.375	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.993	D;D;D	0.66602	0.93;0.945;0.914	D	0.99349	1.0914	10	0.87932	D	0	-9.7232	19.1856	0.93642	0.0:0.0:1.0:0.0	.	205;233;205	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	F	205;205;205;205;58;68	ENSP00000420617:V205F;ENSP00000280653:V205F;ENSP00000263969:V205F;ENSP00000420148:V58F;ENSP00000419926:V68F	ENSP00000263969:V205F	V	+	1	0	MFN1	180564855	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.414000	0.97362	2.611000	0.88343	0.650000	0.86243	GTC	.		0.353	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		T	179082161	G	T	179082161	3	4	12	1	0	0	0	0	1	0	0	0	9561	1261	44	3	631	3	MFN1	3	179082161	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	36913835	179082161	18940269	43	1633											
VPS8	23355	hgsc.bcm.edu	37	3	184682319	184682319	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr3:184682319C>A	ENST00000437079.3	+	38	3418	c.3247C>A	c.(3247-3249)Cat>Aat	p.H1083N	VPS8_ENST00000446204.2_Missense_Mutation_p.H991N|VPS8_ENST00000436792.2_Missense_Mutation_p.H1081N|VPS8_ENST00000287546.4_Missense_Mutation_p.H1083N	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1083							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)			AGGAGATATTCATGGTGCCTT	0.294																																					p.H1083N		.											VPS8,colon,carcinoma,0,1	VPS8	0	0			c.C3247A						.						87	87	87					3																	184682319		1702	3709	5411	SO:0001583	missense	23355	exon37			GATATTCATGGTG	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.3247C>A	3.37:g.184682319C>A	ENSP00000397879:p.His1083Asn	77	0		44	2	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789391	0.70337	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.8	5.8	0.92144	Quinonprotein alcohol dehydrogenase-like (1);	0.277928	0.44902	D	0.000408	T	0.24736	0.0600	L	0.54323	1.7	0.36589	D	0.873981	B;P;B	0.42337	0.255;0.776;0.372	B;P;B	0.46362	0.045;0.514;0.15	T	0.05835	-1.0861	10	0.19590	T	0.45	-16.1268	16.9805	0.86326	0.0:1.0:0.0:0.0	.	1083;991;1081	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	N	1083;1083;1081;991	ENSP00000287546:H1083N;ENSP00000397879:H1083N;ENSP00000404704:H1081N;ENSP00000405483:H991N	ENSP00000287546:H1083N	H	+	1	0	VPS8	186165013	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.343000	0.65976	2.751000	0.94390	0.650000	0.86243	CAT	.		0.294	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		A	184682319	C	A	184682319	3	1	12	1	0	0	0	0	1	0	0	0	17267	826	29	3	3389	3	VPS8	3	184682319	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	5600158	184682319	13340111	44	1634											
ZNF141	7700	hgsc.bcm.edu	37	4	367218	367218	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr4:367218G>T	ENST00000240499.7	+	4	1141	c.992G>T	c.(991-993)aGa>aTa	p.R331I	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	331					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						AAACATAAGAGAATTCATACT	0.383																																					p.R331I		.											ZNF141,NS,carcinoma,0,1	ZNF141	0	0			c.G992T						.						50	55	54					4																	367218		2201	4294	6495	SO:0001583	missense	7700	exon4			ATAAGAGAATTCA	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.992G>T	4.37:g.367218G>T	ENSP00000240499:p.Arg331Ile	61	0		30	2	NM_003441	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422398	0.43020	.	.	ENSG00000131127	ENST00000240499	T	0.02446	4.29	1.24	-0.242	0.13039	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	M	0.77616	2.38	0.39205	D	0.963211	P	0.35542	0.508	B	0.32149	0.141	T	0.42430	-0.9452	8	.	.	.	.	5.765	0.18221	0.0:0.0:0.6941:0.3059	.	331	Q15928	ZN141_HUMAN	I	331	ENSP00000240499:R331I	.	R	+	2	0	ZNF141	357218	0.000000	0.05858	0.838000	0.33150	0.981000	0.71138	0.254000	0.18314	0.591000	0.29711	0.313000	0.20887	AGA	.		0.383	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		T	367218	G	T	367218	3	4	12	1	0	0	0	0	1	0	0	0	17778	942	33	3	1006	3	ZNF141	4	367218	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		367218	190787058	45	1635											
CORIN	10699	bcgsc.ca	37	4	47647102	47647102	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr4:47647102G>T	ENST00000273857.4	-	14	1952	c.1953C>A	c.(1951-1953)aaC>aaA	p.N651K	CORIN_ENST00000508498.1_Missense_Mutation_p.N512K|CORIN_ENST00000502252.1_Missense_Mutation_p.N584K|CORIN_ENST00000504584.1_Missense_Mutation_p.N614K|CORIN_ENST00000505909.1_Missense_Mutation_p.N614K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	651	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACTTACAGCAGTTTTTCTCGT	0.378																																					p.N651K													.	CORIN	154	0			c.C1953A						.						146	138	141					4																	47647102		2203	4300	6503	SO:0001583	missense	10699	exon14			ACAGCAGTTTTTC	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1953C>A	4.37:g.47647102G>T	ENSP00000273857:p.Asn651Lys	68	0		47	4	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235704	0.58886	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	6.07	2.51	0.30379	.	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.81802	2.56	0.43503	D	0.995756	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.996;0.933;0.982	T	0.71830	-0.4474	10	0.40728	T	0.16	.	11.9848	0.53140	0.2705:0.0:0.7295:0.0	.	614;584;651	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	K	651;512;584;614;614	ENSP00000273857:N651K;ENSP00000425597:N512K;ENSP00000424212:N584K;ENSP00000425401:N614K;ENSP00000423216:N614K	ENSP00000273857:N651K	N	-	3	2	CORIN	47341859	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.581000	0.46077	0.167000	0.19631	0.655000	0.94253	AAC	.		0.378	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			T	47647102	G	T	47647102	3	4	12	1	0	0	0	0	1	0	0	0	3759	1020	36	3	1211	3	CORIN	4	47647102	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	47279884	47647102	143507174	46	1636											
CNGA1	1259	hgsc.bcm.edu	37	4	47939627	47939627	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr4:47939627G>T	ENST00000514170.1	-	11	1203	c.884C>A	c.(883-885)cCa>cAa	p.P295Q	CNGA1_ENST00000544810.1_Missense_Mutation_p.P295Q|CNGA1_ENST00000420489.2_Missense_Mutation_p.P295Q|CNGA1_ENST00000402813.3_Missense_Mutation_p.P364Q|CNGA1_ENST00000358519.4_Missense_Mutation_p.P295Q			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	295					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						GAAGATGTTTGGATAGTTTGT	0.368																																					p.P364Q		.											CNGA1,colon,carcinoma,0,1	CNGA1	0	0			c.C1091A						.						157	154	155					4																	47939627		1867	4097	5964	SO:0001583	missense	1259	exon10			ATGTTTGGATAGT	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.884C>A	4.37:g.47939627G>T	ENSP00000426862:p.Pro295Gln	76	0		57	3	NM_001142564	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108042	0.77096	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	D	0.96723	0.9534	10	0.87932	D	0	.	18.5276	0.90978	0.0:0.0:1.0:0.0	.	295;295	Q4W5E3;P29973	.;CNGA1_HUMAN	Q	364;295;295;295;295	ENSP00000384264:P364Q;ENSP00000426862:P295Q;ENSP00000443401:P295Q;ENSP00000351320:P295Q;ENSP00000389881:P295Q	ENSP00000351320:P295Q	P	-	2	0	CNGA1	47634384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.372000	0.80975	0.655000	0.94253	CCA	.		0.368	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		T	47939627	G	T	47939627	3	4	12	1	0	0	0	0	1	0	0	0	3603	1348	47	3	1192	3	CNGA1	4	47939627	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	292525	47939627	143214649	47	1637											
KDR	3791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	55956163	55956163	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr4:55956163C>T	ENST00000263923.4	-	23	3447	c.3152G>A	c.(3151-3153)cGg>cAg	p.R1051Q	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)	1051	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.R1051Q(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)	ATAAATATCCCGGGCCAAGCC	0.408			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																											p.R1051Q		.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	KDR,NS,carcinoma,0,1	KDR	0	1	Substitution - Missense(1)	kidney(1)	c.G3152A						.						80	82	81					4																	55956163		2203	4300	6503	SO:0001583	missense	3791	exon23			ATATCCCGGGCCA	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.3152G>A	4.37:g.55956163C>T	ENSP00000263923:p.Arg1051Gln	68	0		30	8	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	36	5.710324	0.96821	.	.	ENSG00000128052	ENST00000263923	D	0.84873	-1.91	5.65	5.65	0.86999	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	0.92097	0.7495	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92118	0.5701	10	0.87932	D	0	.	20.0835	0.97793	0.0:1.0:0.0:0.0	.	1051	P35968	VGFR2_HUMAN	Q	1051	ENSP00000263923:R1051Q	ENSP00000263923:R1051Q	R	-	2	0	KDR	55650920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.822000	0.97130	0.563000	0.77884	CGG	.		0.408	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55956163	C	T	55956163	3	4	12	1	0	0	0	0	1	0	0	0	8166	652	23	1	950	1	KDR	4	55956163	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	8016536	55956163	135198113	48	1638											
G3BP2	9908	bcgsc.ca	37	4	76582169	76582169	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr4:76582169G>T	ENST00000359707.4	-	5	1166	c.381C>A	c.(379-381)caC>caA	p.H127Q	G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.H127Q|G3BP2_ENST00000357854.3_Missense_Mutation_p.H127Q	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	127	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACATATCATTGTGAACATAAA	0.328																																					p.H127Q													.	G3BP2	52	0			c.C381A						.						116	121	119					4																	76582169		2203	4298	6501	SO:0001583	missense	9908	exon5			ATCATTGTGAACA	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.381C>A	4.37:g.76582169G>T	ENSP00000352738:p.His127Gln	78	0		49	4	NM_012297	A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823865	0.50739	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745	T;T;T	0.78364	-1.17;-1.17;-1.14	5.95	-0.789	0.10935	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	L	0.48362	1.52	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.75048	-0.3455	10	0.23891	T	0.37	.	12.2667	0.54683	0.5702:0.0:0.4298:0.0	.	127;127	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	Q	127	ENSP00000379069:H127Q;ENSP00000352738:H127Q;ENSP00000350518:H127Q	ENSP00000350518:H127Q	H	-	3	2	G3BP2	76801193	1.000000	0.71417	0.994000	0.49952	0.282000	0.26991	2.167000	0.42415	-0.114000	0.11936	0.655000	0.94253	CAC	.		0.328	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		T	76582169	G	T	76582169	3	4	12	1	0	0	0	0	1	0	0	0	6166	1368	48	3	1099	3	G3BP2	4	76582169	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	20626006	76582169	114572107	49	1639											
INTS12	57117	ucsc.edu	37	4	106604263	106604263	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr4:106604263G>T	ENST00000451321.2	-	7	1495	c.1016C>A	c.(1015-1017)tCa>tAa	p.S339*	INTS12_ENST00000394735.1_Nonsense_Mutation_p.S339*|INTS12_ENST00000340139.5_Nonsense_Mutation_p.S339*	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	339	Ser-rich.				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)		ACCTTTGGATGATGTTGCCAG	0.443																																					p.S339X													.	INTS12	35	0			c.C1016A						.						223	201	208					4																	106604263		2203	4300	6503	SO:0001587	stop_gained	57117	exon8			TTGGATGATGTTG		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.1016C>A	4.37:g.106604263G>T	ENSP00000415433:p.Ser339*	66	0		19	4	NM_020395	B2RC48|Q3B6Z3|Q9HD71	Nonsense_Mutation	SNP	ENST00000451321.2	37	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	G	40	8.049945	0.98629	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	.	.	.	5.17	5.17	0.71159	.	0.277018	0.35291	N	0.003313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-9.5387	18.6889	0.91576	0.0:0.0:1.0:0.0	.	.	.	.	X	339	.	ENSP00000340737:S339X	S	-	2	0	INTS12	106823712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.633000	0.74286	2.406000	0.81754	0.591000	0.81541	TCA	.		0.443	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		T	106604263	G	T	106604263	4	4	12	1	0	0	0	0	0	1	0	0	7804	1294	45	3	376	3	INTS12	4	106604263	Nonsense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	30022094	106604263	84550013	50	1640											
LRIT3	345193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	110788888	110788888	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr4:110788888T>A	ENST00000594814.1	+	3	681	c.681T>A	c.(679-681)gaT>gaA	p.D227E	LRIT3_ENST00000409621.2_Missense_Mutation_p.D44E|LRIT3_ENST00000379920.3_Missense_Mutation_p.D182E|LRIT3_ENST00000327908.3_Missense_Mutation_p.D44E	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	227	LRRCT.				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)		TGCTTCTGGATCCACTGATGA	0.458																																					p.D227E		.											.	.	.	0			c.T681A						.						146	123	131					4																	110788888		2203	4300	6503	SO:0001583	missense	345193	exon3			TCTGGATCCACTG	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.681T>A	4.37:g.110788888T>A	ENSP00000469759:p.Asp227Glu	53	0		29	13	NM_198506	C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146293	0.77888	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.55930	0.49;0.71;0.49	5.88	-7.27	0.01461	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	L	0.54323	1.7	0.43149	D	0.994916	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.70985	-0.4723	10	0.49607	T	0.09	.	21.8843	0.99962	0.0:0.7225:0.0:0.2775	.	182;44	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	E	44;182;44	ENSP00000328222:D44E;ENSP00000369252:D182E;ENSP00000386734:D44E	ENSP00000328222:D44E	D	+	3	2	LRIT3	111008337	0.004000	0.15560	0.683000	0.30040	0.804000	0.45430	-1.113000	0.03296	-1.294000	0.02360	0.533000	0.62120	GAT	.		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		A	110788888	T	A	110788888	3	1	12	1	0	0	0	0	1	0	0	0	8984	1432	50	5	552	5	LRIT3	4	110788888	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	4184625	110788888	80365388	51	1641											
CDH10	1008	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	24488016	24488016	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr5:24488016G>A	ENST00000264463.4	-	12	2630	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	708					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)		CCGGACGTCCGTGTTATCTGG	0.473										HNSCC(23;0.051)																											p.T708M		.											CDH10,NS,carcinoma,0,1	CDH10	0	0			c.C2123T						.						80	86	84					5																	24488016		2203	4300	6503	SO:0001583	missense	1008	exon12			ACGTCCGTGTTAT	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.2123C>T	5.37:g.24488016G>A	ENSP00000264463:p.Thr708Met	57	0		20	4	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653090	0.67472	.	.	ENSG00000040731	ENST00000264463	T	0.77358	-1.09	5.41	5.41	0.78517	Cadherin, cytoplasmic domain (1);	0.385638	0.31312	N	0.007880	D	0.85695	0.5756	M	0.82056	2.57	0.41503	D	0.988298	D	0.61080	0.989	P	0.54372	0.75	D	0.86626	0.1882	10	0.46703	T	0.11	.	18.1996	0.89833	0.0:0.0:1.0:0.0	.	708	Q9Y6N8	CAD10_HUMAN	M	708	ENSP00000264463:T708M	ENSP00000264463:T708M	T	-	2	0	CDH10	24523773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.495000	0.73665	2.544000	0.85801	0.655000	0.94253	ACG	.		0.473	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		A	24488016	G	A	24488016	3	1	12	1	0	0	0	0	1	0	0	0	3103	1145	40	1	247	1	CDH10	5	24488016	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		24488016	156427244	52	1642											
CDH9	1007	hgsc.bcm.edu	37	5	26885775	26885775	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr5:26885775G>T	ENST00000231021.4	-	11	2002	c.1830C>A	c.(1828-1830)ggC>ggA	p.G610G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	610					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						CCGTGCTCAGGCCGGCTGAAA	0.502																																					p.G610G	Melanoma(8;187 585 15745 40864 52829)	.											CDH9,NS,carcinoma,0,1	CDH9	0	0			c.C1830A						.						80	67	72					5																	26885775		2203	4300	6503	SO:0001819	synonymous_variant	1007	exon11			GCTCAGGCCGGCT	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.1830C>A	5.37:g.26885775G>T		64	0		28	2	NM_016279	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																			.		0.502	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26885775	G	T	26885775	2	4	12	1	0	0	0	0	0	0	0	1	3124	1190	42	3		3	CDH9	5	26885775	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	2397759	26885775	154029485	53	1643											
UGT3A1	133688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	35965666	35965666	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr5:35965666T>C	ENST00000274278.3	-	4	1022	c.665A>G	c.(664-666)gAc>gGc	p.D222G	UGT3A1_ENST00000507113.1_Missense_Mutation_p.D188G|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D222G|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D168G|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	222						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)			GATGGTGTTGTCAAATGTAGA	0.443																																					p.D222G		.											.	.	.	0			c.A665G						.						120	123	122					5																	35965666		2203	4300	6503	SO:0001583	missense	133688	exon4			GTGTTGTCAAATG		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.665A>G	5.37:g.35965666T>C	ENSP00000274278:p.Asp222Gly	115	0		54	26	NM_152404	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.712882	0.30413	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	3.05	3.05	0.35203	.	0.482842	0.19329	N	0.116946	T	0.63486	0.2515	M	0.64260	1.97	0.49299	D	0.99977	P;B;B;B	0.40250	0.709;0.234;0.331;0.067	P;B;B;B	0.45099	0.469;0.25;0.264;0.169	T	0.66988	-0.5784	10	0.62326	D	0.03	.	10.867	0.46862	0.0:0.0:0.0:1.0	.	188;222;168;222	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	G	222;222;188;168	ENSP00000274278:D222G;ENSP00000427079:D222G;ENSP00000426100:D188G;ENSP00000328033:D168G	ENSP00000274278:D222G	D	-	2	0	UGT3A1	36001423	0.994000	0.37717	0.850000	0.33497	0.666000	0.39218	4.321000	0.59209	1.333000	0.45449	0.260000	0.18958	GAC	.		0.443	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		C	35965666	T	C	35965666	3	2	12	1	0	0	0	0	1	0	0	0	17012	1667	58	4	1004	4	UGT3A1	5	35965666	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	9079891	35965666	144949594	54	1644											
RICTOR	253260	hgsc.bcm.edu	37	5	38946582	38946582	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr5:38946582G>T	ENST00000357387.3	-	33	4417	c.4387C>A	c.(4387-4389)Cat>Aat	p.H1463N	RICTOR_ENST00000296782.5_Missense_Mutation_p.H1487N	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)					CCTGCATCATGGGCAAATGCT	0.343																																					p.H1463N		.											.	.	.	0			c.C4387A						.						187	174	179					5																	38946582		2203	4300	6503	SO:0001583	missense	253260	exon33			CATCATGGGCAAA		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.4387C>A	5.37:g.38946582G>T	ENSP00000349959:p.His1463Asn	97	0		76	4	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365157	0.24684	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.41758	0.99;1.01	5.18	5.18	0.71444	.	0.264107	0.43747	D	0.000535	T	0.19208	0.0461	N	0.01168	-0.975	0.26732	N	0.970575	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.24083	-1.0170	10	0.87932	D	0	-10.737	14.3211	0.66487	0.0739:0.0:0.9261:0.0	.	1463;1487	Q6R327;Q6R327-3	RICTR_HUMAN;.	N	1463;1487	ENSP00000349959:H1463N;ENSP00000296782:H1487N	ENSP00000296782:H1487N	H	-	1	0	RICTOR	38982339	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.892000	0.39748	2.566000	0.86566	0.460000	0.39030	CAT	.		0.343	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		T	38946582	G	T	38946582	3	4	12	1	0	0	0	0	1	0	0	0	13403	1348	47	3	763	3	RICTOR	5	38946582	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	2980916	38946582	141968678	55	1645											
SFXN1	94081	hgsc.bcm.edu;bcgsc.ca	37	5	174949392	174949392	+	Missense_Mutation	SNP	C	C	T	rs543601264		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr5:174949392C>T	ENST00000321442.5	+	10	1093	c.839C>T	c.(838-840)aCa>aTa	p.T280I		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	280					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)			GTGTTTGCTACACCCCTGTGT	0.313																																					p.T280I		.											.	.	.	0			c.C839T						.						174	177	176					5																	174949392		2203	4300	6503	SO:0001583	missense	94081	exon10			TTGCTACACCCCT	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.839C>T	5.37:g.174949392C>T	ENSP00000316905:p.Thr280Ile	101	0		54	4	NM_022754	B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385577	0.61956	.	.	ENSG00000164466	ENST00000321442	T	0.31247	1.5	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.62266	1.93	0.80722	D	1	B	0.19445	0.036	B	0.34418	0.182	T	0.25813	-1.0121	10	0.52906	T	0.07	-18.4917	17.1047	0.86659	0.0:1.0:0.0:0.0	.	280	Q9H9B4	SFXN1_HUMAN	I	280	ENSP00000316905:T280I	ENSP00000316905:T280I	T	+	2	0	SFXN1	174881998	1.000000	0.71417	0.279000	0.24732	0.900000	0.52787	7.344000	0.79328	2.702000	0.92279	0.655000	0.94253	ACA	.		0.313	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		T	174949392	C	T	174949392	3	4	12	1	0	0	0	0	1	0	0	0	14239	478	17	3	873	3	SFXN1	5	174949392	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	136002810	174949392	5965868	56	1646											
NEDD9	4739	bcgsc.ca	37	6	11191311	11191311	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:11191311G>T	ENST00000379446.5	-	5	957	c.791C>A	c.(790-792)cCt>cAt	p.P264H	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.P264H	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	264					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)			GCAGGTTGGAGGAATGTCATA	0.557																																					p.P264H													.	NEDD9	191	0			c.C791A						.						84	75	78					6																	11191311		2203	4300	6503	SO:0001583	missense	4739	exon6			GTTGGAGGAATGT	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.791C>A	6.37:g.11191311G>T	ENSP00000368759:p.Pro264His	72	0		55	4	NM_001142393	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	g	14.95	2.687790	0.48097	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.60548	0.18;0.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.994	T	0.74429	-0.3668	10	0.87932	D	0	-27.3874	13.797	0.63177	0.0696:0.0:0.9304:0.0	.	264;264;264	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	H	264	ENSP00000368759:P264H;ENSP00000422871:P264H	ENSP00000368759:P264H	P	-	2	0	NEDD9	11299297	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	7.479000	0.81095	2.891000	0.99171	0.651000	0.88453	CCT	.		0.557	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		T	11191311	G	T	11191311	3	4	12	1	0	0	0	0	1	0	0	0	10352	1000	35	3	1725	3	NEDD9	6	11191311	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		11191311	159923756	57	1647											
BAT2	7916	bcgsc.ca	37	6	31604380	31604380	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:31604380C>A	ENST00000376033.2	+	27	6163	c.5929C>A	c.(5929-5931)Cag>Aag	p.Q1977K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.Q1977K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1977	3 X 50 AA type C 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						GGCTCCTGCCCAGCAGGTATA	0.522																																					p.Q1977K													.	PRRC2A	152	0			c.C5929A						.						110	129	122					6																	31604380		1510	2707	4217	SO:0001583	missense	7916	exon27			CCTGCCCAGCAGG	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.5929C>A	6.37:g.31604380C>A	ENSP00000365201:p.Gln1977Lys	48	0		41	4	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	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190618	0.21954	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02103	4.45;4.45	5.35	5.35	0.76521	.	0.000000	0.48767	D	0.000168	T	0.02688	0.0081	L	0.52573	1.65	0.41048	D	0.985289	P	0.48764	0.915	P	0.47299	0.543	T	0.51957	-0.8639	10	0.87932	D	0	-11.5305	16.1031	0.81201	0.0:1.0:0.0:0.0	.	1977	P48634	PRC2A_HUMAN	K	1969;1958;1977;1977;1202	ENSP00000365175:Q1977K;ENSP00000365201:Q1977K	ENSP00000365175:Q1977K	Q	+	1	0	PRRC2A	31712359	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	4.329000	0.59260	2.784000	0.95788	0.551000	0.68910	CAG	.		0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		A	31604380	C	A	31604380	3	1	12	1	0	0	0	0	1	0	0	0	1320	595	21	3	6031	3	BAT2	6	31604380	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	20413069	31604380	139510687	58	1648											
HLA-DRA	3122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	32410347	32410347	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:32410347C>T	ENST00000374982.5	+	2	278	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R69W			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	69	Alpha-1.			R -> L (in Ref. 12; AA sequence). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|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)|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)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|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 protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GACGGTCTGGCGGCTTGAAGA	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																												p.R69W		.											HLA-DRA,colon,carcinoma,0,1	HLA-DRA	0	0			c.C205T						.						151	153	152					6																	32410347		1511	2708	4219	SO:0001583	missense	3122	exon2	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	GTCTGGCGGCTTG		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.205C>T	6.37:g.32410347C>T	ENSP00000364121:p.Arg69Trp	72	0		62	20	NM_019111	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37		.	.	.	.	.	.	.	.	.	.	.	15.24	2.774506	0.49786	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.00940	5.52;5.52	5.38	-4.41	0.03590	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);	0.517370	0.19798	N	0.105812	T	0.00875	0.0029	M	0.80508	2.5	0.29473	N	0.856929	P;D	0.55605	0.552;0.972	B;P	0.49708	0.274;0.62	T	0.21621	-1.0240	10	0.72032	D	0.01	.	8.2935	0.31971	0.6731:0.1757:0.0:0.1512	.	69;69	Q30118;P01903	.;DRA_HUMAN	W	69	ENSP00000378786:R69W;ENSP00000364121:R69W	ENSP00000364121:R69W	R	+	1	2	HLA-DRA	32518325	0.716000	0.27956	0.796000	0.32109	0.791000	0.44710	-0.644000	0.05415	-0.604000	0.05760	0.638000	0.83543	CGG	.		0.468	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		T	32410347	C	T	32410347	3	4	12	1	0	0	0	0	1	0	0	0	7234	759	27	1	211	1	HLA-DRA	6	32410347	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	805967	32410347	138704720	59	1649											
UBR2	23304	broad.mit.edu	37	6	42600594	42600594	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:42600594G>T	ENST00000372899.1	+	13	1755	c.1497G>T	c.(1495-1497)aaG>aaT	p.K499N	UBR2_ENST00000372901.1_Missense_Mutation_p.K499N|UBR2_ENST00000372883.3_5'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	499					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)			TGAGGCAGAAGTTCCTAGAAG	0.333																																					p.K499N													.	UBR2	134	0			c.G1497T						.						87	86	86					6																	42600594		2203	4300	6503	SO:0001583	missense	23304	exon13			GCAGAAGTTCCTA	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.1497G>T	6.37:g.42600594G>T	ENSP00000361990:p.Lys499Asn	46	0		42	3	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274668	0.59649	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.47177	0.85;0.85	5.09	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.41356	1.27	0.80722	D	1	D;B	0.89917	1.0;0.23	D;B	0.87578	0.998;0.05	T	0.26883	-1.0090	10	0.30854	T	0.27	-14.2471	9.3816	0.38318	0.2158:0.0:0.7842:0.0	.	499;499	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	N	499	ENSP00000361990:K499N;ENSP00000361992:K499N	ENSP00000361990:K499N	K	+	3	2	UBR2	42708572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.612000	0.46343	2.496000	0.84212	0.655000	0.94253	AAG	.		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		T	42600594	G	T	42600594	3	4	12	1	0	0	0	0	1	0	0	0	16951	1020	36	3	1693	3	UBR2	6	42600594	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	10190247	42600594	128514473	60	1650											
DST	667	hgsc.bcm.edu	37	6	56401599	56401599	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:56401599C>A	ENST00000361203.3	-	58	16122	c.16115G>T	c.(16114-16116)cGg>cTg	p.R5372L	DST_ENST00000244364.6_Missense_Mutation_p.R2960L|DST_ENST00000446842.2_Missense_Mutation_p.R5048L|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R3286L|DST_ENST00000370769.4_Missense_Mutation_p.R5374L|DST_ENST00000370754.5_Missense_Mutation_p.R5552L|DST_ENST00000421834.2_Missense_Mutation_p.R3286L|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5372					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)			AGTCTTCCACCGTGCATTGAC	0.428																																					p.R2960L		.											DST_ENST00000370769,NS,haematopoietic_neoplasm,0,2	DST_ENST00000370769	0	0			c.G8879T						.						154	153	153					6																	56401599		2035	4203	6238	SO:0001583	missense	667	exon43			TTCCACCGTGCAT	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.16115G>T	6.37:g.56401599C>A	ENSP00000354508:p.Arg5372Leu	76	0		49	2	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		.	.	.	.	.	.	.	.	.	.	C	16.60	3.169478	0.57584	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.7	5.7	0.88788	.	0.000000	0.47455	D	0.000237	T	0.64271	0.2583	M	0.83012	2.62	0.30256	N	0.793582	D;D;D;P;P	0.71674	0.972;0.998;0.995;0.82;0.928	P;D;D;B;P	0.74674	0.812;0.984;0.94;0.298;0.82	T	0.69412	-0.5152	9	0.59425	D	0.04	.	14.0397	0.64667	0.0:0.928:0.0:0.072	.	3286;5374;5552;5372;2960	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	2960;5552;5374;3286;5048;3286;5372	ENSP00000244364:R2960L;ENSP00000359790:R5552L;ENSP00000359805:R5374L;ENSP00000400883:R3286L;ENSP00000393645:R5048L;ENSP00000359824:R3286L;ENSP00000354508:R5372L	ENSP00000244364:R2960L	R	-	2	0	DST	56509558	0.998000	0.40836	0.637000	0.29366	0.945000	0.59286	4.693000	0.61753	2.697000	0.92050	0.585000	0.79938	CGG	.		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56401599	C	A	56401599	3	1	12	1	0	0	0	0	1	0	0	0	4797	652	23	2	6804	2	DST	6	56401599	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	13801005	56401599	114713468	61	1651											
FAM135A	57579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	71195946	71195946	+	Intron	SNP	A	A	G			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:71195946A>G	ENST00000418814.2	+	10	1437				FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000370479.3_Splice_Site_p.L257L|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Splice_Site_p.L257L|FAM135A_ENST00000505868.1_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A											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						ACAACCATCTAGGTACGTTTA	0.338																																					p.L257L		.											.	.	.	0			c.A771G						.						87	78	81					6																	71195946		2203	4300	6503	SO:0001627	intron_variant	57579	exon9			CCATCTAGGTACG	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.823+4089A>G	6.37:g.71195946A>G		85	0		58	17	NM_020819	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	CCDS55028.1																																																																																			.		0.338	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71195946	A	G	71195946	1	3	12	0	1	0	0	0	0	0	0	0	5467	434	15	4		4	FAM135A	6	71195946	Intron	SNP	A	TCGA-W5-AA2Q-01A-11D-A417-09	14794347	71195946	99919121	62	1652											
MICAL1	64780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	109769503	109769503	+	Silent	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:109769503C>T	ENST00000358807.3	-	13	2069	c.1758G>A	c.(1756-1758)gtG>gtA	p.V586V	MICAL1_ENST00000358577.3_Silent_p.V500V|MICAL1_ENST00000368952.4_Silent_p.V605V	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	586	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CCTGTGCAGACACCACCGGTG	0.617																																					p.V586V		.											.	.	.	0			c.G1758A						.						172	159	163					6																	109769503		2203	4300	6503	SO:0001819	synonymous_variant	64780	exon13			TGCAGACACCACC	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.1758G>A	6.37:g.109769503C>T		24	0		19	9	NM_022765	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840367	0.16891	.	.	ENSG00000135596	ENST00000433205	T	0.57107	0.42	5.38	2.38	0.29361	.	0.257251	0.35067	N	0.003471	T	0.40570	0.1122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27971	-1.0058	7	0.38643	T	0.18	.	9.0192	0.36188	0.0:0.7021:0.1345:0.1633	.	.	.	.	I	148	ENSP00000408924:V148I	ENSP00000408924:V148I	V	-	1	0	MICAL1	109876196	1.000000	0.71417	0.921000	0.36526	0.835000	0.47333	1.799000	0.38824	0.635000	0.30488	-0.291000	0.09656	GTC	.		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109769503	C	T	109769503	2	4	12	1	0	0	0	0	0	0	0	1	9607	465	17	3		3	MICAL1	6	109769503	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	38573557	109769503	61345564	63	1653											
TRAF3IP2	10758	bcgsc.ca	37	6	111912799	111912799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:111912799delG	ENST00000340026.6	-	3	1112	c.518delC	c.(517-519)cctfs	p.P173fs	TRAF3IP2_ENST00000359831.4_Frame_Shift_Del_p.P164fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Frame_Shift_Del_p.P164fs|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	173	Mediates interaction with TRAF6.				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)		TGAGGCATTAGGTAAACTTTG	0.517																																					p.P164fs													TRAF3IP2,colon,carcinoma,0,1	TRAF3IP2	35	0			c.491delC						.						59	56	57					6																	111912799		2203	4300	6503	SO:0001589	frameshift_variant	10758	exon2			GCATTAGGTAAAC	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.518delC	6.37:g.111912799delG	ENSP00000345984:p.Pro173fs	62	0		20	4	NM_147686	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Del	DEL	ENST00000340026.6	37																																																																																				.		0.517	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			-	111912799	G	-	111912799	7	5	12	1	0	1	0	1	0	0	0	0	16489	1000	35	0	1238	0	TRAF3IP2	6	111912799	Frame_Shift_Del	DEL	G	TCGA-W5-AA2Q-01A-11D-A417-09	2143296	111912799	59202268	64	1654											
SLC35F1	222553	hgsc.bcm.edu	37	6	118598679	118598679	+	Silent	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:118598679C>T	ENST00000360388.4	+	6	1018	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	273					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L273V(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCATAAGGAACTGTTGAAGGT	0.413																																					p.L273L		.											SLC35F1,NS,carcinoma,0,1	SLC35F1	0	1	Substitution - Missense(1)	breast(1)	c.C817T						.						182	172	175					6																	118598679		2203	4300	6503	SO:0001819	synonymous_variant	222553	exon6			AAGGAACTGTTGA	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.817C>T	6.37:g.118598679C>T		54	0		39	2	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	CCDS34524.1																																																																																			.		0.413	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		T	118598679	C	T	118598679	2	4	12	1	0	0	0	0	0	0	0	1	14633	564	20	3		3	SLC35F1	6	118598679	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	6685880	118598679	52516388	65	1655											
MOXD1	26002	hgsc.bcm.edu	37	6	132618355	132618355	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:132618355G>C	ENST00000367963.3	-	12	1897	c.1779C>G	c.(1777-1779)ttC>ttG	p.F593L	MOXD1_ENST00000336749.3_Missense_Mutation_p.F525L	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	593						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|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)	p.F525L(1)|p.F593L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGTTGATGGAGAAATCTCTGT	0.438																																					p.F593L		.											MOXD1_ENST00000336749,rectum,carcinoma,0,2	MOXD1_ENST00000336749	0	2	Substitution - Missense(2)	large_intestine(2)	c.C1779G						.						150	134	139					6																	132618355		2203	4300	6503	SO:0001583	missense	26002	exon12			GATGGAGAAATCT	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1779C>G	6.37:g.132618355G>C	ENSP00000356940:p.Phe593Leu	68	0		37	2	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	5.904	0.350842	0.11182	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.43294	0.97;0.95	5.7	1.33	0.21861	.	1.363200	0.04540	N	0.388044	T	0.06371	0.0164	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	10	0.11485	T	0.65	0.728	2.7927	0.05392	0.1622:0.2427:0.4563:0.1388	.	593;525	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	L	593;525	ENSP00000356940:F593L;ENSP00000336998:F525L	ENSP00000336998:F525L	F	-	3	2	MOXD1	132660048	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.685000	0.25378	0.329000	0.23460	0.591000	0.81541	TTC	.		0.438	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		C	132618355	G	C	132618355	3	2	12	1	0	0	0	0	1	0	0	0	9758	933	33	5	66	5	MOXD1	6	132618355	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	14019676	132618355	38496712	66	1656											
RMND1	55005	hgsc.bcm.edu;bcgsc.ca	37	6	151738443	151738443	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:151738443G>T	ENST00000367303.4	-	10	1293	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	RMND1_ENST00000336451.3_Missense_Mutation_p.Q180K	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	391					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)		CTAAGGAATTGACACGTTTTA	0.383																																					p.Q391K		.											.	.	.	0			c.C1171A						.						122	115	118					6																	151738443		2203	4300	6503	SO:0001583	missense	55005	exon10			GGAATTGACACGT	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.1171C>A	6.37:g.151738443G>T	ENSP00000356272:p.Gln391Lys	100	0		63	4	NM_017909	A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255601	0.22965	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000367299	T;T	0.74737	-0.87;1.06	5.93	5.93	0.95920	.	0.107189	0.64402	D	0.000003	T	0.44829	0.1312	N	0.16066	0.365	0.58432	D	0.999999	B	0.16603	0.018	B	0.15052	0.012	T	0.44112	-0.9349	10	0.15066	T	0.55	-7.7738	18.1126	0.89540	0.0:0.0:1.0:0.0	.	391	Q9NWS8	RMND1_HUMAN	K	180;391;82	ENSP00000336683:Q180K;ENSP00000356272:Q391K	ENSP00000336683:Q180K	Q	-	1	0	RMND1	151780136	1.000000	0.71417	0.928000	0.36995	0.265000	0.26407	6.869000	0.75521	2.812000	0.96745	0.555000	0.69702	CAA	.		0.383	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		T	151738443	G	T	151738443	3	4	12	1	0	0	0	0	1	0	0	0	13441	1299	45	3	190	3	RMND1	6	151738443	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	19120088	151738443	19376624	67	1657											
SYTL3	94120	hgsc.bcm.edu	37	6	159104022	159104022	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:159104022G>T	ENST00000297239.9	+	5	588		c.e5+1		SYTL3_ENST00000360448.3_Splice_Site|SYTL3_ENST00000367081.3_Splice_Site			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3						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)		CCAACTGGAGGTAAATGCTCT	0.328																																					.		.											SYTL3,NS,carcinoma,0,1	SYTL3	0	0			c.394+1G>T						.						53	54	53					6																	159104022		2203	4300	6503	SO:0001630	splice_region_variant	94120	exon7			CTGGAGGTAAATG	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.394+1G>T	6.37:g.159104022G>T		102	0		58	3	NM_001009991	Q496J4|Q496J6|Q5U3B9	Splice_Site	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303372	0.60195	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9047	0.70709	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYTL3	159024010	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	4.895000	0.63214	2.656000	0.90262	0.603000	0.83216	.	.		0.328	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		Intron	T	159104022	G	T	159104022	5	4	12	1	0	0	0	0	0	0	1	0	15531	1275	44	3	405	3	SYTL3	6	159104022	Splice_Site	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	7365579	159104022	12011045	68	1658											
THBS2	7058	ucsc.edu;bcgsc.ca	37	6	169632768	169632768	+	Silent	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr6:169632768C>T	ENST00000366787.3	-	13	2172	c.1923G>A	c.(1921-1923)acG>acA	p.T641T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	641					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)		CTTGCTTTTCCGTCTTGGCTG	0.602																																					p.T641T	Esophageal Squamous(91;219 1934 18562 44706)												.	THBS2	230	0			c.G1923A						.						80	86	84					6																	169632768		2203	4300	6503	SO:0001819	synonymous_variant	7058	exon13			CTTTTCCGTCTTG		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.1923G>A	6.37:g.169632768C>T		29	0		22	4	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																			.		0.602	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		T	169632768	C	T	169632768	2	4	12	1	0	0	0	0	0	0	0	1	15901	639	23	1		1	THBS2	6	169632768	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	10528746	169632768	1482299	69	1659											
PDE1C	5137	hgsc.bcm.edu	37	7	31855651	31855651	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr7:31855651T>C	ENST00000396191.1	-	15	2155	c.1700A>G	c.(1699-1701)aAg>aGg	p.K567R	PDE1C_ENST00000396184.3_Missense_Mutation_p.K567R|PDE1C_ENST00000321453.7_Missense_Mutation_p.K567R|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.K567R|PDE1C_ENST00000396193.1_Missense_Mutation_p.K627R	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	567					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)			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)	TCCAGACGTCTTTTTCTCAGC	0.498																																					p.K627R		.											PDE1C_ENST00000396193,NS,malignant_melanoma,0,3	PDE1C_ENST00000396193	0	0			c.A1880G						.						243	242	242					7																	31855651		2203	4300	6503	SO:0001583	missense	5137	exon16			GACGTCTTTTTCT	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.1700A>G	7.37:g.31855651T>C	ENSP00000379494:p.Lys567Arg	68	0		37	2	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336073	0.24253	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73681	-0.76;-0.77;-0.77;-0.72;-0.72	5.34	5.34	0.76211	.	0.437409	0.19729	N	0.107413	T	0.58206	0.2106	N	0.24115	0.695	0.32563	N	0.530843	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.61431	-0.7064	10	0.49607	T	0.09	.	6.4892	0.22105	0.0:0.1633:0.0:0.8367	.	567;627;567	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	R	627;567;567;567;567	ENSP00000379496:K627R;ENSP00000379494:K567R;ENSP00000318105:K567R;ENSP00000379487:K567R;ENSP00000379485:K567R	ENSP00000318105:K567R	K	-	2	0	PDE1C	31822176	0.964000	0.33143	0.840000	0.33206	0.007000	0.05969	3.863000	0.56016	2.242000	0.73789	0.533000	0.62120	AAG	.		0.498	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			C	31855651	T	C	31855651	3	2	12	1	0	0	0	0	1	0	0	0	11674	1609	56	4	216	4	PDE1C	7	31855651	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09		31855651	127283012	70	1660											
PDGFRL	5157	broad.mit.edu;bcgsc.ca	37	8	17447006	17447006	+	Missense_Mutation	SNP	C	C	T	rs373035421		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr8:17447006C>T	ENST00000541323.1	+	3	530	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	PDGFRL_ENST00000398074.3_Missense_Mutation_p.R29C|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R29C	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	29					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)		CAAGAACAAGCGTCCAAAAGA	0.423													C|||	1	0.000199681	0	0	5008	,	,		19667	0		0.001	False		,,,				2504	0				p.R29C													.	PDGFRL	27	0			c.C85T						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	145	149	148		85	3.6	1	8		148	0,8600		0,0,4300	no	missense	PDGFRL	NM_006207.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	29/376	17447006	1,13005	2203	4300	6503	SO:0001583	missense	5157	exon3			AACAAGCGTCCAA	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.85C>T	8.37:g.17447006C>T	ENSP00000444211:p.Arg29Cys	139	0		72	5	NM_006207	A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798799	0.70567	2.27E-4	0.0	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.37752	1.18;1.18;1.18	4.52	3.57	0.40892	.	0.222920	0.45126	D	0.000382	T	0.44498	0.1296	M	0.64997	1.995	0.80722	D	1	D	0.65815	0.995	P	0.49387	0.609	T	0.53450	-0.8437	10	0.87932	D	0	-12.4939	14.6299	0.68647	0.1457:0.8543:0.0:0.0	.	29	Q15198	PGFRL_HUMAN	C	29	ENSP00000251630:R29C;ENSP00000444211:R29C;ENSP00000381149:R29C	ENSP00000251630:R29C	R	+	1	0	PDGFRL	17491266	0.998000	0.40836	0.995000	0.50966	0.915000	0.54546	3.324000	0.52022	2.503000	0.84419	0.591000	0.81541	CGT	.		0.423	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		T	17447006	C	T	17447006	3	4	12	1	0	0	0	0	1	0	0	0	11702	768	27	1	91	1	PDGFRL	8	17447006	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09		17447006	128917016	71	1661											
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	41550703	41550703	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr8:41550703G>T	ENST00000347528.4	-	30	3632	c.3549C>A	c.(3547-3549)gcC>gcA	p.A1183A	ANK1_ENST00000379758.2_Silent_p.A1183A|ANK1_ENST00000396945.1_Silent_p.A1183A|ANK1_ENST00000265709.8_Silent_p.A1224A|ANK1_ENST00000289734.7_Silent_p.A1183A|ANK1_ENST00000396942.1_Silent_p.A1183A|ANK1_ENST00000352337.4_Silent_p.A1183A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1183	ZU5 2. {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)			CTTCCCACTGGGCTTGGTCTG	0.537																																					p.A1224A		.											.	.	.	0			c.C3672A						.						267	212	231					8																	41550703		2203	4300	6503	SO:0001819	synonymous_variant	286	exon31			CCACTGGGCTTGG	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.3549C>A	8.37:g.41550703G>T		59	0		22	11	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	5.899	0.350001	0.11182	.	.	ENSG00000029534	ENST00000520299	.	.	.	4.54	1.71	0.24356	.	.	.	.	.	T	0.45296	0.1335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22417	-1.0217	4	.	.	.	.	3.0865	0.06279	0.2922:0.1422:0.4659:0.0998	.	.	.	.	T	505	.	.	P	-	1	0	ANK1	41669860	0.109000	0.22037	0.998000	0.56505	0.684000	0.39900	-0.426000	0.07008	-0.003000	0.14444	-1.595000	0.00837	CCA	.		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41550703	G	T	41550703	2	4	12	1	0	0	0	0	0	0	0	1	620	1219	43	3		3	ANK1	8	41550703	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	24103697	41550703	104813319	72	1662											
LRRC6	23639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	133627332	133627332	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr8:133627332G>A	ENST00000519595.1	-	8	1024	c.926C>T	c.(925-927)tCt>tTt	p.S309F	LRRC6_ENST00000250173.1_Missense_Mutation_p.S309F|LRRC6_ENST00000518642.1_Missense_Mutation_p.S309F			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	309	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				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)			ATCTTTCAAAGAGAAGTCAAT	0.323																																					p.S309F		.											.	.	.	0			c.C926T						.						74	77	76					8																	133627332		2202	4293	6495	SO:0001583	missense	23639	exon8			TTCAAAGAGAAGT	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.926C>T	8.37:g.133627332G>A	ENSP00000429791:p.Ser309Phe	52	0		40	15	NM_012472	Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329851	0.24167	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.55413	0.68;0.52;0.68	5.2	4.31	0.51392	CS-like domain (1);	0.332224	0.32190	N	0.006458	T	0.55847	0.1946	M	0.79805	2.47	0.51233	D	0.999915	B	0.14805	0.011	B	0.16722	0.016	T	0.59289	-0.7482	10	0.87932	D	0	-9.4353	12.4619	0.55736	0.0:0.0:0.8321:0.1679	.	309	Q86X45	LRRC6_HUMAN	F	309	ENSP00000429791:S309F;ENSP00000428610:S309F;ENSP00000250173:S309F	ENSP00000250173:S309F	S	-	2	0	LRRC6	133696514	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	1.815000	0.38981	1.296000	0.44742	0.563000	0.77884	TCT	.		0.323	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		A	133627332	G	A	133627332	3	1	12	1	0	0	0	0	1	0	0	0	9051	942	33	3	494	3	LRRC6	8	133627332	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	92076629	133627332	12736690	73	1663											
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu	37	8	139705902	139705902	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr8:139705902G>T	ENST00000303045.6	-	35	3187	c.2741C>A	c.(2740-2742)gCa>gAa	p.A914E	COL22A1_ENST00000435777.1_Missense_Mutation_p.A914E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	914	Collagen-like 7.|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)			GTTTCCAGCTGCTCCAGGAGC	0.632										HNSCC(7;0.00092)																											p.A914E		.											.	.	.	0			c.C2741A						.						44	38	40					8																	139705902		2202	4297	6499	SO:0001583	missense	169044	exon35			CCAGCTGCTCCAG	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.2741C>A	8.37:g.139705902G>T	ENSP00000303153:p.Ala914Glu	93	0		45	4	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279349	0.40294	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93426	-3.22;-3.22	3.88	2.99	0.34606	.	0.642642	0.13324	U	0.396464	T	0.79834	0.4514	N	0.03071	-0.42	0.26457	N	0.975506	B;B	0.23442	0.069;0.085	B;B	0.25759	0.037;0.063	T	0.68569	-0.5374	10	0.07175	T	0.84	.	7.4006	0.26962	0.1184:0.0:0.8816:0.0	.	914;914	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	914;914;627	ENSP00000303153:A914E;ENSP00000387655:A914E	ENSP00000303153:A914E	A	-	2	0	COL22A1	139775084	0.975000	0.34042	0.999000	0.59377	0.902000	0.53008	1.228000	0.32588	1.202000	0.43218	0.637000	0.83480	GCA	.		0.632	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139705902	G	T	139705902	3	4	12	1	0	0	0	0	1	0	0	0	3688	1319	46	3	2263	3	COL22A1	8	139705902	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	6078570	139705902	6658120	74	1664											
SMARCA2	6595	hgsc.bcm.edu	37	9	2115849	2115849	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr9:2115849C>T	ENST00000382203.1	+	25	3693	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1162C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1162C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1162C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1162	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> H (in NCBRS; dbSNP:rs281875186). {ECO:0000269|PubMed:22366787}.		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)	p.R1158C(1)|p.R1162C(1)		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)		CCGAGCTCACCGCATCGGGCA	0.582																																					p.R1162C		.											SMARCA2_ENST00000349721,NS,carcinoma,0,2	SMARCA2_ENST00000349721	0	2	Substitution - Missense(2)	ovary(2)	c.C3484T						.						31	30	31					9																	2115849		2203	4300	6503	SO:0001583	missense	6595	exon25			GCTCACCGCATCG	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.3484C>T	9.37:g.2115849C>T	ENSP00000371638:p.Arg1162Cys	29	0		29	2	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439262	0.63067	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.67	4.76	0.60689	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.99884	4.89	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.995	D;P;P	0.97110	1.0;0.707;0.807	D	0.97735	1.0205	10	0.87932	D	0	-12.13	11.557	0.50755	0.1408:0.7239:0.1353:0.0	.	763;1162;1162	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	C	1162	ENSP00000265773:R1162C;ENSP00000349788:R1162C;ENSP00000371638:R1162C;ENSP00000371629:R1162C	ENSP00000265773:R1162C	R	+	1	0	SMARCA2	2105849	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.824000	0.62701	1.385000	0.46445	-0.302000	0.09304	CGC	.		0.582	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2115849	C	T	2115849	3	4	12	1	0	0	0	0	1	0	0	0	14814	652	23	1	3578	1	SMARCA2	9	2115849	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09		2115849	139097582	75	1665											
TRPM6	140803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	77470478	77470478	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr9:77470478A>T	ENST00000360774.1	-	3	354	c.117T>A	c.(115-117)tgT>tgA	p.C39*	TRPM6_ENST00000451710.3_Nonsense_Mutation_p.C39*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.C34*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.C34*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.C39*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.C39*|TRPM6_ENST00000359047.2_Nonsense_Mutation_p.C39*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.C39*|RNU6-445P_ENST00000516949.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	39					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						ATACTGGAGTACATCTAAATT	0.318																																					p.C39X		.											.	.	.	0			c.T117A						.						110	114	112					9																	77470478		2203	4300	6503	SO:0001587	stop_gained	140803	exon3			TGGAGTACATCTA	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.117T>A	9.37:g.77470478A>T	ENSP00000354006:p.Cys39*	83	0		57	28	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728554	0.48833	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	.	.	.	5.57	0.171	0.15026	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0943	0.36629	0.6391:0.0:0.3609:0.0	.	.	.	.	X	39;39;39;39;34;34;38;39;39	.	ENSP00000351942:C39X	C	-	3	2	TRPM6	76660298	1.000000	0.71417	0.986000	0.45419	0.079000	0.17450	0.947000	0.29082	0.100000	0.17581	0.533000	0.62120	TGT	.		0.318	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77470478	A	T	77470478	4	4	12	1	0	0	0	0	0	1	0	0	16638	389	14	5	6099	5	TRPM6	9	77470478	Nonsense_Mutation	SNP	A	TCGA-W5-AA2Q-01A-11D-A417-09	75354629	77470478	63742953	76	1666											
SVEP1	79987	hgsc.bcm.edu	37	9	113166798	113166798	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr9:113166798C>T	ENST00000401783.2	-	39	9811	c.9475G>A	c.(9475-9477)Gat>Aat	p.D3159N	SVEP1_ENST00000297826.5_Missense_Mutation_p.D1085N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D3136N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3159	Sushi 29. {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						GTGAATGTATCTGTATCTGTA	0.398																																					p.D3159N		.											SVEP1,NS,carcinoma,0,1	SVEP1	0	0			c.G9475A						.						248	237	240					9																	113166798		1885	4116	6001	SO:0001583	missense	79987	exon39			ATGTATCTGTATC	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.9475G>A	9.37:g.113166798C>T	ENSP00000384917:p.Asp3159Asn	62	0		22	2	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635532	0.67130	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63580	-0.05;-0.05;-0.05	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.281376	0.38326	N	0.001728	T	0.61739	0.2371	L	0.35793	1.09	0.80722	D	1	D	0.53619	0.961	P	0.53450	0.726	T	0.53989	-0.8360	10	0.13470	T	0.59	.	14.7584	0.69588	0.1445:0.8555:0.0:0.0	.	3159	Q4LDE5	SVEP1_HUMAN	N	3159;3136;1085	ENSP00000384917:D3159N;ENSP00000363593:D3136N;ENSP00000297826:D1085N	ENSP00000297826:D1085N	D	-	1	0	SVEP1	112206619	0.995000	0.38212	0.865000	0.33974	0.351000	0.29236	3.647000	0.54403	2.725000	0.93324	0.591000	0.81541	GAT	.		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113166798	C	T	113166798	3	4	12	1	0	0	0	0	1	0	0	0	15467	913	32	3	1280	3	SVEP1	9	113166798	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	35696320	113166798	28046633	77	1667											
PPP6C	5537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	127915867	127915867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr9:127915867C>T	ENST00000373547.4	-	6	713	c.614G>A	c.(613-615)tGg>tAg	p.W205*	PPP6C_ENST00000415905.1_Nonsense_Mutation_p.W183*|PPP6C_ENST00000373546.3_Nonsense_Mutation_p.W58*|PPP6C_ENST00000451402.1_Nonsense_Mutation_p.W242*	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	205					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACTGATAGCCCAGGTATCCAC	0.433																																					p.W242X		.											.	.	.	0			c.G725A						.						80	75	77					9																	127915867		2203	4300	6503	SO:0001587	stop_gained	5537	exon7			ATAGCCCAGGTAT	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.614G>A	9.37:g.127915867C>T	ENSP00000362648:p.Trp205*	82	0		41	19	NM_001123355	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Nonsense_Mutation	SNP	ENST00000373547.4	37	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927061	0.92389	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3142	18.9632	0.92684	0.0:1.0:0.0:0.0	.	.	.	.	X	205;242;183;58	.	ENSP00000362647:W58X	W	-	2	0	PPP6C	126955688	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.724000	0.93272	0.585000	0.79938	TGG	.		0.433	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		T	127915867	C	T	127915867	4	4	12	1	0	0	0	0	0	1	0	0	12449	595	21	3	311	3	PPP6C	9	127915867	Nonsense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	14749069	127915867	13297564	78	1668											
PFKP	5214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	3124594	3124594	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:3124594G>A	ENST00000381125.4	+	2	203	c.127G>A	c.(127-129)Gtc>Atc	p.V43I	PFKP_ENST00000421751.1_3'UTR|PFKP_ENST00000381075.2_Missense_Mutation_p.R8H	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	43	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)		GAACGCTGCCGTCCGTGCCGT	0.587																																					p.V43I		.											.	.	.	0			c.G127A						.						119	95	103					10																	3124594		2203	4300	6503	SO:0001583	missense	5214	exon2			GCTGCCGTCCGTG	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.127G>A	10.37:g.3124594G>A	ENSP00000370517:p.Val43Ile	33	0		22	8	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.17|15.17	2.754488|2.754488	0.49362|0.49362	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000397834;ENST00000381075|ENST00000381125;ENST00000421751;ENST00000407806	T|T;T;T	0.80738|0.75477	-1.41|-0.94;-0.94;-0.94	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Phosphofructokinase domain (2);	.|0.404483	.|0.26903	.|N	.|0.021905	T|T	0.75265|0.75265	0.3826|0.3826	L|L	0.31578|0.31578	0.945|0.945	0.80722|0.80722	D|D	1|1	P|D	0.44006|0.67145	0.824|0.996	B|P	0.31337|0.60173	0.128|0.87	T|T	0.77851|0.77851	-0.2434|-0.2434	9|10	0.62326|0.72032	D|D	0.03|0.01	.|.	12.5582|12.5582	0.56265|0.56265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	8|43	Q5VSR7|Q01813	.|K6PP_HUMAN	H|I	5;8|43;5;5	ENSP00000370465:R8H|ENSP00000370517:V43I;ENSP00000410590:V5I;ENSP00000385880:V5I	ENSP00000370465:R8H|ENSP00000370517:V43I	R|V	+|+	2|1	0|0	PFKP|PFKP	3114594|3114594	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.022000|0.022000	0.10575|0.10575	7.242000|7.242000	0.78210|0.78210	2.416000|2.416000	0.81992|0.81992	0.545000|0.545000	0.68477|0.68477	CGT|GTC	.		0.587	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		A	3124594	G	A	3124594	3	1	12	1	0	0	0	0	1	0	0	0	11805	1145	40	1	133	1	PFKP	10	3124594	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		3124594	132410153	79	1669											
GATA3	2625	hgsc.bcm.edu	37	10	8100385	8100385	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:8100385C>T	ENST00000346208.3	+	3	814	c.359C>T	c.(358-360)aCg>aTg	p.T120M	GATA3_ENST00000379328.3_Missense_Mutation_p.T120M|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	120					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						TTCTCCAAGACGTCCATCCAC	0.697			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																														p.T120M		.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	.	0			c.C359T						.						69	84	79					10																	8100385		2203	4299	6502	SO:0001583	missense	2625	exon3			CCAAGACGTCCAT	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.359C>T	10.37:g.8100385C>T	ENSP00000341619:p.Thr120Met	134	0		93	4	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932972	0.73442	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96587	-4.06;-4.02	5.4	4.49	0.54785	.	0.099723	0.64402	D	0.000002	D	0.96321	0.8800	L	0.50333	1.59	0.45567	D	0.998514	D;D	0.67145	0.982;0.996	B;P	0.54664	0.374;0.758	D	0.96378	0.9279	10	0.72032	D	0.01	-13.9673	15.563	0.76266	0.139:0.861:0.0:0.0	.	120;120	P23771;P23771-2	GATA3_HUMAN;.	M	120	ENSP00000368632:T120M;ENSP00000341619:T120M	ENSP00000341619:T120M	T	+	2	0	GATA3	8140391	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.872000	0.63050	1.257000	0.44085	0.561000	0.74099	ACG	.		0.697	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		T	8100385	C	T	8100385	3	4	12	1	0	0	0	0	1	0	0	0	6280	536	19	1	365	1	GATA3	10	8100385	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	4975791	8100385	127434362	80	1670											
ZEB1	6935	broad.mit.edu	37	10	31791305	31791305	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:31791305G>A	ENST00000320985.10	+	4	459	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ZEB1_ENST00000560721.2_Missense_Mutation_p.E97K|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.E50K|ZEB1_ENST00000446923.2_Missense_Mutation_p.E101K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E118K			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	117					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTCAGATGCAGAAAATGAGCA	0.373																																					p.E118K	Ovarian(40;423 959 14296 36701 49589)												.	ZEB1	173	0			c.G352A						.						114	104	108					10																	31791305		2203	4300	6503	SO:0001583	missense	6935	exon4			GATGCAGAAAATG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.349G>A	10.37:g.31791305G>A	ENSP00000319248:p.Glu117Lys	54	0		54	3	NM_001174096	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856495	0.97030	.	.	ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.92	5.92	0.95590	.	0.092076	0.47093	D	0.000243	D	0.89076	0.6612	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.985;0.998;0.998	D;D;D;P;D;D	0.80764	0.994;0.989;0.989;0.808;0.99;0.989	D	0.86428	0.1759	10	0.35671	T	0.21	-23.2597	20.3129	0.98645	0.0:0.0:1.0:0.0	.	50;101;117;97;118;117	F5H4I8;E9PCM7;B2RBI8;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;ZEB1_HUMAN	K	117;118;117;50;117;97;118;101	ENSP00000354487:E118K;ENSP00000444891:E50K;ENSP00000319248:E117K;ENSP00000415961:E118K;ENSP00000391612:E101K	ENSP00000319248:E117K	E	+	1	0	ZEB1	31831311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.800000	0.96347	0.650000	0.86243	GAA	.		0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		A	31791305	G	A	31791305	3	1	12	1	0	0	0	0	1	0	0	0	17671	943	33	3	377	3	ZEB1	10	31791305	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	23690920	31791305	103743442	81	1671											
FZD8	8325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	35929045	35929045	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:35929045G>C	ENST00000374694.1	-	1	1317	c.1313C>G	c.(1312-1314)tCg>tGg	p.S438W	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	438					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						GAAGTACTGCGAGTAGCCGGC	0.652																																					p.S438W		.											.	.	.	0			c.C1313G						.						40	39	39					10																	35929045		2202	4300	6502	SO:0001583	missense	8325	exon1			TACTGCGAGTAGC	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.1313C>G	10.37:g.35929045G>C	ENSP00000363826:p.Ser438Trp	37	0		17	8	NM_031866		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539806	0.45176	.	.	ENSG00000177283	ENST00000374694	D	0.84516	-1.86	3.74	3.74	0.42951	GPCR, family 2-like (1);	0.188754	0.35555	U	0.003122	D	0.93782	0.8012	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95447	0.8531	10	0.87932	D	0	.	15.6696	0.77262	0.0:0.0:1.0:0.0	.	438	Q9H461	FZD8_HUMAN	W	438	ENSP00000363826:S438W	ENSP00000363826:S438W	S	-	2	0	FZD8	35969051	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	9.013000	0.93629	2.067000	0.61834	0.289000	0.19496	TCG	.		0.652	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		C	35929045	G	C	35929045	3	2	12	1	0	0	0	0	1	0	0	0	6160	1059	37	5	775	5	FZD8	10	35929045	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	4137740	35929045	99605702	82	1672											
ANK3	288	hgsc.bcm.edu	37	10	61994461	61994461	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:61994461G>T	ENST00000280772.2	-	8	1073	c.882C>A	c.(880-882)atC>atA	p.I294I	ANK3_ENST00000503366.1_Silent_p.I277I|ANK3_ENST00000373827.2_Silent_p.I288I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	294					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						TTTTGGCATCGATTTTAGCTC	0.388																																					p.I294I		.											ANK3,NS,carcinoma,0,1	ANK3	0	0			c.C882A						.						191	150	163					10																	61994461		2203	4300	6503	SO:0001819	synonymous_variant	288	exon8			GGCATCGATTTTA	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.882C>A	10.37:g.61994461G>T		78	0		74	3	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																			.		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61994461	G	T	61994461	2	4	12	1	0	0	0	0	0	0	0	1	622	1048	37	2		2	ANK3	10	61994461	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	26065416	61994461	73540286	83	1673											
ZNF503	84858	broad.mit.edu	37	10	77161113	77161115	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:77161113_77161115delCCG	ENST00000372524.4	-	1	549_551	c.63_65delCGG	c.(61-66)ggcgga>gga	p.21_22GG>G	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.21_22GG>G|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000486015.1_RNA|ZNF503-AS2_ENST00000425916.3_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	21	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)					gcctccgcctccgccgccgccgc	0.734																																					p.21_22del													.	ZNF503	25	0			c.63_65del						.			76,614		30,16,299						1.1	1		dbSNP_130	2	28,2504		8,12,1246	no	coding	ZNF503	NM_032772.4		38,28,1545	A1A1,A1R,RR		1.1058,11.0145,3.2278				104,3118				SO:0001651	inframe_deletion	84858	exon1			CCGCCTCCGCCGC	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.63_65delCGG	10.37:g.77161122_77161124delCCG	ENSP00000361602:p.Gly27del	12	0		6	2	NM_032772	Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	CCDS7350.1																																																																																			.		0.734	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		-	77161115	CCG	-	77161113	7	5	12	1	0	1	0	1	0	0	0	0	17999	855	30	0	1883	0	ZNF503	10	77161113	In_Frame_Del	DEL	CCG	TCGA-W5-AA2Q-01A-11D-A417-09	15166652	77161113	58373634	84	1674											
DNMBP	23268	hgsc.bcm.edu	37	10	101716493	101716493	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:101716493G>T	ENST00000324109.4	-	4	829	c.738C>A	c.(736-738)acC>acA	p.T246T	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.T246T	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	246	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.T246T(1)		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)		CGACCCCATAGGTCCCTGGCT	0.512																																					p.T246T		.											DNMBP,caecum,carcinoma,0,2	DNMBP	0	1	Substitution - coding silent(1)	ovary(1)	c.C738A						.						78	84	82					10																	101716493		2203	4300	6503	SO:0001819	synonymous_variant	23268	exon4			CCCATAGGTCCCT	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.738C>A	10.37:g.101716493G>T		58	0		43	2	NM_015221	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																			.		0.512	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101716493	G	T	101716493	2	4	12	1	0	0	0	0	0	0	0	1	4688	987	35	3		3	DNMBP	10	101716493	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	24555380	101716493	33818254	85	1675											
SEMA4G	57715	broad.mit.edu	37	10	102743836	102743836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:102743836delA	ENST00000370250.4	+	14	2838	c.2465delA	c.(2464-2466)gaafs	p.E822fs	RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_Intron|SEMA4G_ENST00000210633.3_Frame_Shift_Del_p.E827fs|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000493646.1_5'Flank	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	822					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)		CGCATCCTGGAAAAAAGGAAG	0.562																																					p.E827fs													.	SEMA4G	55	0			c.2480delA						.						73	73	73					10																	102743836		2203	4300	6503	SO:0001589	frameshift_variant	57715	exon14			TCCTGGAAAAAAG	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.2465delA	10.37:g.102743836delA	ENSP00000359270:p.Glu822fs	6	0		6	2	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Frame_Shift_Del	DEL	ENST00000370250.4	37																																																																																				.		0.562	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			-	102743836	A	-	102743836	7	5	12	1	0	1	0	1	0	0	0	0	14081	246	9	0	2534	0	SEMA4G	10	102743836	Frame_Shift_Del	DEL	A	TCGA-W5-AA2Q-01A-11D-A417-09	1027343	102743836	32790911	86	1676											
BTBD16	118663	hgsc.bcm.edu	37	10	124036305	124036305	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr10:124036305G>A	ENST00000260723.4	+	3	269		c.e3-1		BTBD16_ENST00000368994.2_Silent_p.Q7Q	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16											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)				TTACCAAGCAGCACAAAGCTC	0.448																																					.		.											BTBD16,bladder,carcinoma,0,1	BTBD16	0	0			c.19-1G>A						.						84	87	86					10																	124036305		2203	4300	6503	SO:0001630	splice_region_variant	118663	exon3			CAAGCAGCACAAA	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.19-1G>A	10.37:g.124036305G>A		66	0		60	3	NM_144587	A6NM63|Q4VXL1|Q96LN0	Splice_Site	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073731	0.20147	.	.	ENSG00000138152	ENST00000260723	.	.	.	4.66	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.27163	N	0.961122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8669	0.35291	0.1013:0.0:0.8987:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTBD16	124026295	0.605000	0.26941	0.007000	0.13788	0.006000	0.05464	2.406000	0.44557	1.332000	0.45431	0.650000	0.86243	.	.		0.448	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	Intron	A	124036305	G	A	124036305	5	1	12	1	0	0	0	0	0	0	1	0	1545	985	34	3	24	3	BTBD16	10	124036305	Splice_Site	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	21292469	124036305	11498442	87	1677											
UBQLNL	143630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	5537616	5537616	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:5537616C>T	ENST00000380184.1	-	1	319	c.56G>A	c.(55-57)gGt>gAt	p.G19D	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	19										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGCCAGCAGACCTGATGGACA	0.522																																					p.G19D		.											.	.	.	0			c.G56A						.						91	89	90					11																	5537616		2201	4297	6498	SO:0001583	missense	143630	exon1			AGCAGACCTGATG	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.56G>A	11.37:g.5537616C>T	ENSP00000369531:p.Gly19Asp	28	0		15	9	NM_145053	Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	1.297	-0.605904	0.03717	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.40225	1.04	4.94	0.52	0.17040	.	1.043860	0.07557	N	0.916494	T	0.28333	0.0700	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25537	-1.0129	10	0.32370	T	0.25	.	3.2598	0.06845	0.1803:0.477:0.0:0.3427	.	19	Q8IYU4	UBQLN_HUMAN	D	19	ENSP00000369531:G19D	ENSP00000369531:G19D	G	-	2	0	UBQLNL	5494192	0.004000	0.15560	0.000000	0.03702	0.043000	0.13939	0.578000	0.23773	-0.065000	0.13021	0.650000	0.86243	GGT	.		0.522	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		T	5537616	C	T	5537616	3	4	12	1	0	0	0	0	1	0	0	0	16949	507	18	3	1375	3	UBQLNL	11	5537616	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09		5537616	129468900	88	1678											
OR52E8	390079	hgsc.bcm.edu	37	11	5878458	5878458	+	Silent	SNP	G	G	A	rs549924845	byFrequency	TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	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	5008	,	,		18808	0		0	False		,,,				2504	0.001				p.L159L		.											OR52E8,NS,carcinoma,0,1	OR52E8	0	0			c.C475T						.						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		44	0		17	2	NM_001005168	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																			.		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878458	G	A	5878458	2	1	12	1	0	0	0	0	0	0	0	1	11157	991	35	3		3	OR52E8	11	5878458	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	340842	5878458	129128058	89	1679											
C11orf41	25758	hgsc.bcm.edu	37	11	33589742	33589742	+	Missense_Mutation	SNP	G	G	T	rs376568090		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:33589742G>T	ENST00000321505.4	+	8	3488	c.3308G>T	c.(3307-3309)cGg>cTg	p.R1103L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1109L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1109L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1103						integral component of membrane (GO:0016021)											CGGTTTAAACGGGCCACCACC	0.587																																					p.R1103L		.											C11orf41_ENST00000321505,right_upper_lobe,carcinoma,0,2	C11orf41_ENST00000321505	0	0			c.G3308T						.						33	34	34					11																	33589742		1948	4132	6080	SO:0001583	missense	25758	exon8			TTAAACGGGCCAC	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.3308G>T	11.37:g.33589742G>T	ENSP00000315295:p.Arg1103Leu	80	0		41	2	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348955|5.348955	0.95807|0.95807	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.82056|0.82056	2.57|2.57	0.42116|0.42116	D|D	0.991403|0.991403	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85786|0.85786	0.1364|0.1364	5|9	.|0.87932	.|D	.|0	-22.5335|-22.5335	19.2636|19.2636	0.93977|0.93977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1109;1109	.|E9PAT2;Q6ZVL6-2	.|.;.	W|L	501|1103;1109;1109;942	.|.	.|ENSP00000265654:R1109L	G|R	+|+	1|2	0|0	C11orf41|C11orf41	33546318|33546318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.435000|9.435000	0.97529|0.97529	2.539000|2.539000	0.85634|0.85634	0.555000|0.555000	0.69702|0.69702	GGG|CGG	.		0.587	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33589742	G	T	33589742	3	4	12	1	0	0	0	0	1	0	0	0	1645	1116	39	2	3356	2	C11orf41	11	33589742	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	27711284	33589742	101416774	90	1680											
CKAP5	9793	hgsc.bcm.edu;bcgsc.ca	37	11	46780475	46780475	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:46780475G>T	ENST00000529230.1	-	35	4733	c.4687C>A	c.(4687-4689)Cag>Aag	p.Q1563K	CKAP5_ENST00000354558.3_Missense_Mutation_p.Q1563K|CKAP5_ENST00000415402.1_Missense_Mutation_p.Q1563K|CKAP5_ENST00000312055.5_Missense_Mutation_p.Q1563K|SNORD67_ENST00000516618.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1563					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						CCCATTACCTGTGTCAGAGCT	0.453																																					p.Q1563K	Ovarian(4;85 273 2202 4844 13323)	.											.	.	.	0			c.C4687A						.						263	213	230					11																	46780475		2201	4299	6500	SO:0001583	missense	9793	exon35			TTACCTGTGTCAG		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.4687C>A	11.37:g.46780475G>T	ENSP00000432768:p.Gln1563Lys	75	0		49	4	NM_001008938	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.125932|4.125932	0.77436|0.77436	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.44482|.	0.92;0.93;0.92;0.92|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65133|0.65133	0.2662|0.2662	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;P;P|.	0.56035|.	0.974;0.954;0.924|.	P;D;P|.	0.67900|.	0.717;0.954;0.9|.	T|T	0.58994|0.58994	-0.7537|-0.7537	10|5	0.16420|.	T|.	0.52|.	0.1853|0.1853	19.7999|19.7999	0.96502|0.96502	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1563;1563;1563|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	K|K	1563;1563;1563;1563;294|119	ENSP00000432768:Q1563K;ENSP00000395302:Q1563K;ENSP00000310227:Q1563K;ENSP00000346566:Q1563K|.	ENSP00000310227:Q1563K|.	Q|T	-|-	1|2	0|0	CKAP5|CKAP5	46737051|46737051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	9.813000|9.813000	0.99286|0.99286	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CAG|ACA	.		0.453	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		T	46780475	G	T	46780475	3	4	12	1	0	0	0	0	1	0	0	0	3452	1386	48	3	1451	3	CKAP5	11	46780475	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	13190733	46780475	88226041	91	1681											
FAM111A	63901	hgsc.bcm.edu	37	11	58920814	58920814	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:58920814C>A	ENST00000528737.1	+	5	4491	c.1673C>A	c.(1672-1674)gCt>gAt	p.A558D	FAM111A_ENST00000361723.3_Missense_Mutation_p.A558D|FAM111A_ENST00000533703.1_Missense_Mutation_p.A558D|FAM111A_ENST00000531147.1_Missense_Mutation_p.A558D|FAM111A_ENST00000420244.1_Missense_Mutation_p.A558D			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	558	Interaction with SV40 large T antigen.				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)				ATGCATGCTGCTGGCTTTGCT	0.428																																					p.A558D		.											FAM111A,NS,carcinoma,0,1	FAM111A	0	0			c.C1673A						.						137	134	135					11																	58920814		2201	4295	6496	SO:0001583	missense	63901	exon5			ATGCTGCTGGCTT	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.1673C>A	11.37:g.58920814C>A	ENSP00000434435:p.Ala558Asp	100	0		49	2	NM_001142520	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044054	0.55110	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.57	5.57	0.84162	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.067305	0.64402	D	0.000014	T	0.67581	0.2908	M	0.68593	2.085	0.41061	D	0.985373	D	0.89917	1.0	D	0.76575	0.988	T	0.69105	-0.5233	10	0.66056	D	0.02	-13.918	16.8262	0.85931	0.0:1.0:0.0:0.0	.	558	Q96PZ2	F111A_HUMAN	D	558	ENSP00000434435:A558D;ENSP00000406683:A558D;ENSP00000355264:A558D;ENSP00000433154:A558D;ENSP00000431631:A558D	ENSP00000355264:A558D	A	+	2	0	FAM111A	58677390	0.157000	0.22836	0.783000	0.31826	0.302000	0.27658	0.225000	0.17757	2.791000	0.96007	0.655000	0.94253	GCT	.		0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		A	58920814	C	A	58920814	3	1	12	1	0	0	0	0	1	0	0	0	5418	797	28	3	1679	3	FAM111A	11	58920814	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	12140339	58920814	76085702	92	1682											
DLG2	1740	hgsc.bcm.edu;bcgsc.ca	37	11	84996326	84996326	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:84996326G>T	ENST00000376104.2	-	4	435	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	DLG2_ENST00000543673.1_Missense_Mutation_p.Q42K	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				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)				TCCCATTTCTGTAAAACTTGA	0.348																																					p.Q42K		.											.	.	.	0			c.C124A						.						222	198	205					11																	84996326		1568	3581	5149	SO:0001583	missense	1740	exon4			ATTTCTGTAAAAC	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	ENST00000376104.2:c.124C>A	11.37:g.84996326G>T	ENSP00000365272:p.Gln42Lys	87	0		44	4	NM_001142699	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000376104.2	37	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471252	0.43942	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.11930	2.73;2.73	5.88	3.93	0.45458	.	0.241793	0.26780	N	0.022539	T	0.05364	0.0142	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	9	.	.	.	.	9.0218	0.36204	0.0:0.3681:0.5138:0.1181	.	42	Q15700-2	.	K	42	ENSP00000365272:Q42K;ENSP00000441994:Q42K	.	Q	-	1	0	DLG2	84673974	0.997000	0.39634	0.995000	0.50966	0.990000	0.78478	1.957000	0.40392	1.444000	0.47605	0.650000	0.86243	CAG	.		0.348	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364		T	84996326	G	T	84996326	3	4	12	1	0	0	0	0	1	0	0	0	4569	1386	48	3	3108	3	DLG2	11	84996326	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	26075512	84996326	50010190	93	1683											
HEPHL1	341208	hgsc.bcm.edu	37	11	93806546	93806546	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:93806546G>T	ENST00000315765.9	+	8	1453	c.1445G>T	c.(1444-1446)aGc>aTc	p.S482I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	482	Plastocyanin-like 3.				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)				AAGGTCTATAGCATTTTACCC	0.493																																					p.S482I		.											HEPHL1,NS,carcinoma,0,1	HEPHL1	0	0			c.G1445T						.						66	62	64					11																	93806546		1922	4123	6045	SO:0001583	missense	341208	exon8			TCTATAGCATTTT	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.1445G>T	11.37:g.93806546G>T	ENSP00000313699:p.Ser482Ile	74	0		34	2	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648574	0.87958	.	.	ENSG00000181333	ENST00000315765	D	0.99311	-5.73	5.51	5.51	0.81932	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.039076	0.85682	D	0.000000	D	0.99619	0.9861	H	0.94620	3.56	0.51012	D	0.999906	D	0.89917	1.0	D	0.85130	0.997	D	0.97917	1.0312	10	0.87932	D	0	.	19.4292	0.94758	0.0:0.0:1.0:0.0	.	482	Q6MZM0	HPHL1_HUMAN	I	482	ENSP00000313699:S482I	ENSP00000313699:S482I	S	+	2	0	HEPHL1	93446194	1.000000	0.71417	0.996000	0.52242	0.788000	0.44548	9.027000	0.93706	2.581000	0.87130	0.650000	0.86243	AGC	.		0.493	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93806546	G	T	93806546	3	4	12	1	0	0	0	0	1	0	0	0	7082	971	34	3	1475	3	HEPHL1	11	93806546	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	8810220	93806546	41199970	94	1684											
KIAA1377	57562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	101857706	101857706	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:101857706T>C	ENST00000263468.8	+	9	3448	c.3178T>C	c.(3178-3180)Tgc>Cgc	p.C1060R	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C861R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1060										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)		ATTCAACATCTGCACACTGTC	0.368																																					p.C1060R		.											.	.	.	0			c.T3178C						.						98	98	98					11																	101857706		2203	4299	6502	SO:0001583	missense	57562	exon9			AACATCTGCACAC	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.3178T>C	11.37:g.101857706T>C	ENSP00000263468:p.Cys1060Arg	60	0		42	19	NM_020802	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994551	0.35226	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08896	3.04;3.04	5.49	3.1	0.35709	.	0.296463	0.29087	N	0.013186	T	0.18130	0.0435	M	0.68317	2.08	0.41808	D	0.989951	D	0.63880	0.993	P	0.60682	0.878	T	0.00498	-1.1704	10	0.41790	T	0.15	-6.0453	6.5984	0.22687	0.2086:0.0:0.1296:0.6618	.	1060	Q9P2H0	K1377_HUMAN	R	1060;861	ENSP00000263468:C1060R;ENSP00000443184:C861R	ENSP00000263468:C1060R	C	+	1	0	KIAA1377	101362916	0.999000	0.42202	0.933000	0.37362	0.389000	0.30415	2.546000	0.45778	2.212000	0.71576	0.533000	0.62120	TGC	.		0.368	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		C	101857706	T	C	101857706	3	2	12	1	0	0	0	0	1	0	0	0	8254	1580	55	4	3212	4	KIAA1377	11	101857706	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	8051160	101857706	33148810	95	1685											
MMP8	4317	hgsc.bcm.edu	37	11	102593358	102593358	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:102593358G>T	ENST00000236826.3	-	2	247	c.149C>A	c.(148-150)tCt>tAt	p.S50Y		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	50					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.S50F(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)	CTTCCTTGTAGACTGATACTG	0.438																																					p.S50Y		.											MMP8,shoulder,malignant_melanoma,0,1	MMP8	0	1	Substitution - Missense(1)	skin(1)	c.C149A						.						134	130	131					11																	102593358		2203	4299	6502	SO:0001583	missense	4317	exon2			CTTGTAGACTGAT	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.149C>A	11.37:g.102593358G>T	ENSP00000236826:p.Ser50Tyr	67	0		37	2	NM_002424	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	1.620	-0.521776	0.04171	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.37235	1.21	5.92	1.47	0.22746	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	3.305230	0.00748	N	0.001054	T	0.31263	0.0791	L	0.42245	1.32	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.15870	0.014;0.008	T	0.25433	-1.0132	10	0.07175	T	0.84	.	9.7368	0.40392	0.3474:0.0:0.6526:0.0	.	50;50	A8K9E4;P22894	.;MMP8_HUMAN	Y	50;27	ENSP00000236826:S50Y	ENSP00000236826:S50Y	S	-	2	0	MMP8	102098568	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-2.687000	0.00833	0.399000	0.25367	0.655000	0.94253	TCT	.		0.438	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		T	102593358	G	T	102593358	3	4	12	1	0	0	0	0	1	0	0	0	9706	942	33	3	1290	3	MMP8	11	102593358	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	735652	102593358	32413158	96	1686											
HTR3B	9177	bcgsc.ca	37	11	113813745	113813745	+	Silent	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:113813745G>A	ENST00000260191.2	+	7	995	c.738G>A	c.(736-738)ctG>ctA	p.L246L	HTR3B_ENST00000537778.1_Silent_p.L235L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	246					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)	TCGTGAGTCTGCTGATTCCTA	0.557																																					p.L246L													.	HTR3B	50	0			c.G738A						.						110	90	97					11																	113813745		2201	4296	6497	SO:0001819	synonymous_variant	9177	exon7			GAGTCTGCTGATT	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.738G>A	11.37:g.113813745G>A		31	0		12	3	NM_006028	B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	CCDS8364.1																																																																																			.		0.557	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		A	113813745	G	A	113813745	2	1	12	1	0	0	0	0	0	0	0	1	7472	1306	46	3		3	HTR3B	11	113813745	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	11220387	113813745	21192771	97	1687											
REXO2	25996	hgsc.bcm.edu	37	11	114310340	114310340	+	Silent	SNP	C	C	T	rs371745776		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:114310340C>T	ENST00000265881.5	+	1	233	c.90C>T	c.(88-90)ggC>ggT	p.G30G	RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000539275.1_Silent_p.G30G|REXO2_ENST00000544196.1_Silent_p.G30G|REXO2_ENST00000539754.1_Silent_p.G30G	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	30					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)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GCGAAGGTGGCGCAGCCATGG	0.697											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G30G		.											.	.	.	0			c.C90T						.	C		1,4391		0,1,2195	26	27	27		90	0.8	1	11		27	0,8590		0,0,4295	no	coding-synonymous	REXO2	NM_015523.3		0,1,6490	TT,TC,CC		0.0,0.0228,0.0077		30/238	114310340	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	25996	exon1			AGGTGGCGCAGCC	AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"REX2, RNA exonuclease 2 homolog (S. cerevisiae)"			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.90C>T	11.37:g.114310340C>T		177	0	1457	92	3	NM_015523	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000265881.5	37	CCDS8371.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003793	0.35320	2.28E-4	0.0	ENSG00000076043	ENST00000539119	.	.	.	5.27	0.783	0.18572	.	.	.	.	.	T	0.50854	0.1640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37126	-0.9719	4	.	.	.	0.0174	4.9608	0.14065	0.1617:0.5724:0.0:0.266	.	.	.	.	C	13	.	.	R	+	1	0	REXO2	113815550	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.311000	0.33562	0.235000	0.21160	0.650000	0.86243	CGC	.		0.697	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	NM_015523		T	114310340	C	T	114310340	2	4	12	1	0	0	0	0	0	0	0	1	13287	755	27	1		1	REXO2	11	114310340	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	496595	114310340	20696176	98	1688											
CADM1	23705	hgsc.bcm.edu	37	11	115049489	115049489	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:115049489C>A	ENST00000452722.3	-	9	1105	c.1085G>T	c.(1084-1086)cGa>cTa	p.R362L	CADM1_ENST00000536727.1_Missense_Mutation_p.R363L|CADM1_ENST00000331581.6_Missense_Mutation_p.R391L|CADM1_ENST00000542447.2_Missense_Mutation_p.R334L|CADM1_ENST00000537058.1_Missense_Mutation_p.R373L|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.R362Q(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)		TTCACCTGCTCGGGAATCTGT	0.552																																					p.R362L		.											CADM1,NS,carcinoma,0,1	CADM1	0	1	Substitution - Missense(1)	lung(1)	c.G1085T						.						83	75	78					11																	115049489		2201	4296	6497	SO:0001583	missense	23705	exon9			CCTGCTCGGGAAT	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.1085G>T	11.37:g.115049489C>A	ENSP00000395359:p.Arg362Leu	47	0		25	2	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121613	0.37436	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	T;T;T;T;T	0.72394	-0.65;-0.05;0.2;-0.09;-0.08	5.0	5.0	0.66597	.	0.201138	0.32593	N	0.005891	T	0.72170	0.3427	N	0.21097	0.63	0.52099	D	0.999945	D;D;P;P	0.59357	0.985;0.967;0.838;0.918	P;P;B;B	0.60236	0.871;0.549;0.416;0.353	T	0.69213	-0.5204	10	0.26408	T	0.33	.	18.4828	0.90818	0.0:1.0:0.0:0.0	.	373;335;362;334	F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.;.;CADM1_HUMAN;.	L	334;362;373;363;293;391;47	ENSP00000439176:R334L;ENSP00000395359:R362L;ENSP00000439817:R373L;ENSP00000440322:R363L;ENSP00000329797:R391L	ENSP00000329797:R391L	R	-	2	0	CADM1	114554699	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.500000	0.60387	2.617000	0.88574	0.655000	0.94253	CGA	.		0.552	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		A	115049489	C	A	115049489	3	1	12	1	0	0	0	0	1	0	0	0	2573	884	31	2	251	2	CADM1	11	115049489	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	739149	115049489	19957027	99	1689											
CRTAM	56253	hgsc.bcm.edu	37	11	122726478	122726478	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:122726478G>A	ENST00000227348.4	+	5	613	c.566G>A	c.(565-567)gGc>gAc	p.G189D		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.G189V(1)		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)		CACACTTATGGCAAAAATTCA	0.418																																					p.G189D		.											CRTAM,caecum,carcinoma,0,2	CRTAM	0	1	Substitution - Missense(1)	ovary(1)	c.G566A						.						109	105	106					11																	122726478		2202	4299	6501	SO:0001583	missense	56253	exon5			CTTATGGCAAAAA	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.566G>A	11.37:g.122726478G>A	ENSP00000227348:p.Gly189Asp	97	0		43	2	NM_019604		Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	9.275	1.046704	0.19748	.	.	ENSG00000109943	ENST00000227348	T	0.09350	2.99	4.86	3.83	0.44106	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.495810	0.22537	N	0.058774	T	0.11922	0.0290	M	0.69823	2.125	0.09310	N	1	B	0.25206	0.12	B	0.26202	0.067	T	0.24512	-1.0158	10	0.24483	T	0.36	.	5.4314	0.16456	0.1964:0.1619:0.6417:0.0	.	189	O95727	CRTAM_HUMAN	D	189	ENSP00000227348:G189D	ENSP00000227348:G189D	G	+	2	0	CRTAM	122231688	0.000000	0.05858	0.006000	0.13384	0.048000	0.14542	0.467000	0.22035	1.016000	0.39470	0.462000	0.41574	GGC	.		0.418	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		A	122726478	G	A	122726478	3	1	12	1	0	0	0	0	1	0	0	0	3904	1203	42	3	584	3	CRTAM	11	122726478	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	7676989	122726478	12280038	100	1690											
GLB1L3	112937	hgsc.bcm.edu	37	11	134188524	134188524	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr11:134188524G>T	ENST00000431683.2	+	19	1779		c.e19-1			NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3						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)		ATTCCTTTCAGAACTGGAATT	0.423																																					.		.											GLB1L3_ENST00000431683,colon,carcinoma,0,2	GLB1L3_ENST00000431683	0	0			c.1780-1G>T						.						103	91	95					11																	134188524		1887	4119	6006	SO:0001630	splice_region_variant	112937	exon19			CTTTCAGAACTGG		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.1780-1G>T	11.37:g.134188524G>T		77	0		41	2	NM_001080407	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Splice_Site	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401075	0.42613	.	.	ENSG00000166105	ENST00000431683	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.75	0.77976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLB1L3	133693734	1.000000	0.71417	0.483000	0.27378	0.028000	0.11728	6.933000	0.75874	2.776000	0.95493	0.558000	0.71614	.	.		0.423	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	Intron	T	134188524	G	T	134188524	5	4	12	1	0	0	0	0	0	0	1	0	6456	956	33	3	1853	3	GLB1L3	11	134188524	Splice_Site	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	11462046	134188524	817992	101	1691											
ARNTL2	56938	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	27573423	27573423	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:27573423G>T	ENST00000266503.5	+	17	1887	c.1869G>T	c.(1867-1869)ctG>ctT	p.L623L	ARNTL2_ENST00000395901.2_Silent_p.L586L|ARNTL2_ENST00000542388.1_Silent_p.L538L|ARNTL2_ENST00000261178.5_Silent_p.L575L|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000311001.5_Silent_p.L609L|ARNTL2_ENST00000544915.1_Silent_p.L589L|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	623					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)					AGGGGGGCCTGGGAGACCCTG	0.433																																					p.L623L		.											.	.	.	0			c.G1869T						.						79	83	81					12																	27573423		2203	4300	6503	SO:0001819	synonymous_variant	56938	exon17			GGGCCTGGGAGAC	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.1869G>T	12.37:g.27573423G>T		75	0		43	4	NM_020183	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	.	6.032	0.374247	0.11409	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.63	-0.603	0.11630	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	.	3.3556	0.07168	0.0812:0.2682:0.3753:0.2753	.	.	.	.	L	575	.	.	W	+	2	0	ARNTL2	27464690	0.997000	0.39634	0.966000	0.40874	0.927000	0.56198	0.075000	0.14686	-0.250000	0.09555	-2.236000	0.00289	TGG	.		0.433	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		T	27573423	G	T	27573423	2	4	12	1	0	0	0	0	0	0	0	1	969	1335	47	3		3	ARNTL2	12	27573423	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		27573423	106278472	102	1692											
FAR2	55711	hgsc.bcm.edu	37	12	29469923	29469923	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:29469923C>T	ENST00000536681.3	+	9	1351	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	FAR2_ENST00000547116.1_Missense_Mutation_p.R272W|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.R369W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	369					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.R369W(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGCTATCTGCGGCTCACTGG	0.507																																					p.R369W		.											FAR2,colon,carcinoma,0,1	FAR2	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1105T						.						124	125	125					12																	29469923		2203	4300	6503	SO:0001583	missense	55711	exon9			TATCTGCGGCTCA	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.1105C>T	12.37:g.29469923C>T	ENSP00000443291:p.Arg369Trp	38	0		25	2	NM_018099	F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434912	0.25813	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	T;T;T	0.33438	1.82;1.82;1.41	4.44	-2.56	0.06268	.	0.069786	0.53938	N	0.000043	T	0.26268	0.0641	M	0.79475	2.455	0.22446	N	0.999095	B	0.31054	0.306	B	0.30179	0.112	T	0.14643	-1.0465	10	0.35671	T	0.21	-19.8622	5.299	0.15768	0.604:0.2031:0.1138:0.0791	.	369	Q96K12	FACR2_HUMAN	W	369;369;272	ENSP00000443291:R369W;ENSP00000182377:R369W;ENSP00000449349:R272W	ENSP00000182377:R369W	R	+	1	2	FAR2	29361190	0.260000	0.24053	0.010000	0.14722	0.762000	0.43233	0.043000	0.13971	-0.844000	0.04184	0.467000	0.42956	CGG	.		0.507	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		T	29469923	C	T	29469923	3	4	12	1	0	0	0	0	1	0	0	0	5697	759	27	1	1135	1	FAR2	12	29469923	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	1896500	29469923	104381972	103	1693											
KIF21A	55605	hgsc.bcm.edu;bcgsc.ca	37	12	39701493	39701493	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:39701493G>T	ENST00000361418.5	-	34	4331	c.4316C>A	c.(4315-4317)gCa>gAa	p.A1439E	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000395670.3_Missense_Mutation_p.A1440E|KIF21A_ENST00000541463.2_Missense_Mutation_p.A1386E|KIF21A_ENST00000544797.2_Missense_Mutation_p.A1402E|KIF21A_ENST00000361961.3_Missense_Mutation_p.A1426E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1439					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)				ACTGGTACTTGCAGAACAAGC	0.428																																					p.A1439E		.											.	.	.	0			c.C4316A						.						125	104	111					12																	39701493		2203	4300	6503	SO:0001583	missense	55605	exon34			GTACTTGCAGAAC	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.4316C>A	12.37:g.39701493G>T	ENSP00000354878:p.Ala1439Glu	82	0		54	4	NM_001173464	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.007680|3.007680	0.54361|0.54361	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T;T|.	0.71461|.	-0.57;-0.53;0.29;-0.55;-0.48;-0.54|.	5.72|5.72	4.83|4.83	0.62350|0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.259372|.	0.26927|.	N|.	0.021785|.	T|T	0.39009|0.39009	0.1062|0.1062	L|L	0.39245|0.39245	1.2|1.2	0.25749|0.25749	N|N	0.985076|0.985076	B;B;B;B;B;B|.	0.33266|.	0.277;0.302;0.262;0.277;0.404;0.374|.	B;B;B;B;B;B|.	0.35688|.	0.109;0.167;0.131;0.109;0.208;0.208|.	T|T	0.25606|0.25606	-1.0127|-1.0127	10|5	0.72032|.	D|.	0.01|.	.|.	9.3277|9.3277	0.38003|0.38003	0.0806:0.2594:0.66:0.0|0.0806:0.2594:0.66:0.0	.|.	1402;1386;1439;1426;1392;426|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	E|K	1426;1440;1392;426;420;1402;1439;1386|740	ENSP00000354851:A1426E;ENSP00000379029:A1440E;ENSP00000448792:A420E;ENSP00000445606:A1402E;ENSP00000354878:A1439E;ENSP00000438075:A1386E|.	ENSP00000344501:A1392E|.	A|Q	-|-	2|1	0|0	KIF21A|KIF21A	37987760|37987760	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	4.577000|4.577000	0.60922|0.60922	1.430000|1.430000	0.47334|0.47334	0.650000|0.650000	0.86243|0.86243	GCA|CAA	.		0.428	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		T	39701493	G	T	39701493	3	4	12	1	0	0	0	0	1	0	0	0	8315	1319	46	3	728	3	KIF21A	12	39701493	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	10231570	39701493	94150402	104	1694											
NELL2	4753	broad.mit.edu;bcgsc.ca	37	12	44926453	44926453	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:44926453C>T	ENST00000429094.2	-	16	2219	c.1715G>A	c.(1714-1716)tGc>tAc	p.C572Y	NELL2_ENST00000551601.1_Intron|NELL2_ENST00000452445.2_Missense_Mutation_p.C572Y|NELL2_ENST00000333837.4_Missense_Mutation_p.C595Y|NELL2_ENST00000395487.2_Missense_Mutation_p.C571Y|NELL2_ENST00000549027.1_Missense_Mutation_p.C571Y|NELL2_ENST00000437801.2_Missense_Mutation_p.C622Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	572	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					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)		CAGGTTAATGCAATTAGCACG	0.398																																					p.C622Y													.	NELL2	286	0			c.G1865A						.						165	139	148					12																	44926453		2203	4300	6503	SO:0001583	missense	4753	exon17			TTAATGCAATTAG	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.1715G>A	12.37:g.44926453C>T	ENSP00000390680:p.Cys572Tyr	43	0		17	6	NM_001145107	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690285	0.88735	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;D;D;D;D;D	0.99955	-2.48;-2.48;-2.48;-2.48;-8.88;-2.48	5.71	5.71	0.89125	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99967	0.9988	H	0.97265	3.97	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.999;1.0	D;D;D;D	0.97110	0.986;0.999;0.996;1.0	D	0.96691	0.9511	10	0.87932	D	0	-12.6398	19.8594	0.96778	0.0:1.0:0.0:0.0	.	595;622;572;571	B7Z2U7;B7Z9U3;Q99435;Q96JS2	.;.;NELL2_HUMAN;.	Y	571;572;572;571;595;622;571	ENSP00000378866:C571Y;ENSP00000390680:C572Y;ENSP00000394612:C572Y;ENSP00000447927:C571Y;ENSP00000327988:C595Y;ENSP00000416341:C622Y	ENSP00000327988:C595Y	C	-	2	0	NELL2	43212720	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.386000	0.79775	2.691000	0.91804	0.650000	0.86243	TGC	.		0.398	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		T	44926453	C	T	44926453	3	4	12	1	0	0	0	0	1	0	0	0	10373	710	25	3	755	3	NELL2	12	44926453	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	5224960	44926453	88925442	105	1695											
PTPRR	5801	ucsc.edu;bcgsc.ca	37	12	71139661	71139661	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:71139661G>A	ENST00000283228.2	-	6	1396	c.944C>T	c.(943-945)gCt>gTt	p.A315V	PTPRR_ENST00000440835.2_Missense_Mutation_p.A70V|PTPRR_ENST00000342084.4_Missense_Mutation_p.A203V|PTPRR_ENST00000549308.1_Missense_Mutation_p.A70V|PTPRR_ENST00000378778.1_Missense_Mutation_p.A109V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	315					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)		AGCGGTGGTAGCTTTGATCTC	0.512																																					p.A315V													.	PTPRR	109	0			c.C944T						.						152	113	126					12																	71139661		2203	4300	6503	SO:0001583	missense	5801	exon6			GTGGTAGCTTTGA	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.944C>T	12.37:g.71139661G>A	ENSP00000283228:p.Ala315Val	70	0		30	4	NM_002849	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115248	0.37339	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.53	3.64	0.41730	.	0.550425	0.16238	N	0.223296	T	0.20861	0.0502	N	0.14661	0.345	0.22034	N	0.999404	B;B;B;B	0.30763	0.294;0.078;0.023;0.02	B;B;B;B	0.21708	0.026;0.036;0.022;0.016	T	0.08868	-1.0701	10	0.33940	T	0.23	-3.0837	12.2386	0.54530	0.0:0.1259:0.7354:0.1388	.	164;203;109;315	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	V	70;315;109;203;70;70	ENSP00000391750:A70V;ENSP00000283228:A315V;ENSP00000368054:A109V;ENSP00000339605:A203V;ENSP00000446943:A70V;ENSP00000449616:A70V	ENSP00000283228:A315V	A	-	2	0	PTPRR	69425928	1.000000	0.71417	0.543000	0.28128	0.904000	0.53231	3.957000	0.56730	0.645000	0.30675	0.655000	0.94253	GCT	.		0.512	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		A	71139661	G	A	71139661	3	1	12	1	0	0	0	0	1	0	0	0	12855	971	34	3	1065	3	PTPRR	12	71139661	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	26213208	71139661	62712234	106	1696											
NAV3	89795	bcgsc.ca	37	12	78583941	78583941	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:78583941G>T	ENST00000397909.2	+	34	6406	c.6233G>T	c.(6232-6234)gGa>gTa	p.G2078V	NAV3_ENST00000228327.6_Missense_Mutation_p.G2056V|NAV3_ENST00000536525.2_Missense_Mutation_p.G2056V|NAV3_ENST00000266692.7_Missense_Mutation_p.G1879V|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2078						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						ACCAAATCTGGAAGGAAAAAA	0.373										HNSCC(70;0.22)																											p.G2056V													.	NAV3	506	0			c.G6167T						.						56	51	53					12																	78583941		1864	4086	5950	SO:0001583	missense	89795	exon33			AATCTGGAAGGAA	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.6233G>T	12.37:g.78583941G>T	ENSP00000381007:p.Gly2078Val	62	0		27	3	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.315853|4.315853	0.81469|0.81469	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.30182|.	1.6;1.6;1.6;1.54;2.4|.	4.55|4.55	4.55|4.55	0.56014|0.56014	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.40818|.	U|.	0.001015|.	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.92555|0.92555	3.32|3.32	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;0.999;1.0;1.0|.	D|D	0.89814|0.89814	0.3984|0.3984	10|5	0.72032|.	D|.	0.01|.	-3.2691|-3.2691	17.6734|17.6734	0.88224|0.88224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2056;1879;2078;2056|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	V|C	2056;2078;2056;1879;670;678|950	ENSP00000446132:G2056V;ENSP00000381007:G2078V;ENSP00000228327:G2056V;ENSP00000266692:G1879V;ENSP00000448303:G678V|.	ENSP00000228327:G2056V|.	G|W	+|+	2|3	0|0	NAV3|NAV3	77108072|77108072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	9.698000|9.698000	0.98700|0.98700	2.245000|2.245000	0.73994|0.73994	0.467000|0.467000	0.42956|0.42956	GGA|TGG	.		0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78583941	G	T	78583941	3	4	12	1	0	0	0	0	1	0	0	0	10223	1174	41	3	6297	3	NAV3	12	78583941	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	7444280	78583941	55267954	107	1697											
TMTC2	160335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	83289597	83289597	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:83289597A>G	ENST00000321196.3	+	3	1362	c.655A>G	c.(655-657)Agg>Ggg	p.R219G	TMTC2_ENST00000548305.1_Splice_Site_p.R219G|TMTC2_ENST00000549919.1_Splice_Site_p.R213G	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	219					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTGGTTTCAGAGGAAGAACTT	0.378																																					p.R219G		.											.	.	.	0			c.A655G						.						91	90	90					12																	83289597		2203	4300	6503	SO:0001630	splice_region_variant	160335	exon3			TTTCAGAGGAAGA	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.655-1A>G	12.37:g.83289597A>G		68	0		33	15	NM_152588	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562974	0.27915	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.62105	0.71;0.05;0.6	5.84	0.5	0.16919	.	0.129288	0.64402	N	0.000001	T	0.41604	0.1166	N	0.21373	0.66	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10660	-1.0620	9	.	.	.	-2.345	9.8383	0.40982	0.7249:0.0:0.2751:0.0	.	219;219	Q8N394;F8VSH2	TMTC2_HUMAN;.	G	219;219;213	ENSP00000322300:R219G;ENSP00000448292:R219G;ENSP00000447609:R213G	.	R	+	1	2	TMTC2	81813728	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.269000	0.43346	-0.141000	0.11374	0.533000	0.62120	AGG	.		0.378	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	Missense_Mutation	G	83289597	A	G	83289597	5	3	12	1	0	0	0	0	0	0	1	0	16308	318	11	4	665	4	TMTC2	12	83289597	Splice_Site	SNP	A	TCGA-W5-AA2Q-01A-11D-A417-09	4705656	83289597	50562298	108	1698											
RPH3A	22895	hgsc.bcm.edu	37	12	113266158	113266158	+	Missense_Mutation	SNP	G	G	A	rs139903605		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:113266158G>A	ENST00000389385.4	+	3	532	c.35G>A	c.(34-36)cGt>cAt	p.R12H	RPH3A_ENST00000447659.2_Missense_Mutation_p.R12H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R12H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R12H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R12H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R12H|RPH3A_ENST00000543106.2_Missense_Mutation_p.R12H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	12					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)		AGTTCTAACCGTTGGATGTAC	0.473																																					p.R12H		.											RPH3A,rectum,carcinoma,0,1	RPH3A	0	0			c.G35A						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	185	159	168		35,35	5.7	0.7	12	dbSNP_134	168	0,8600		0,0,4300	no	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	12/695,12/691	113266158	1,13005	2203	4300	6503	SO:0001583	missense	22895	exon3			CTAACCGTTGGAT	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.35G>A	12.37:g.113266158G>A	ENSP00000374036:p.Arg12His	61	0		43	2	NM_001143854	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943641	0.73672	2.27E-4	0.0	ENSG00000089169	ENST00000549736;ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000546426;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.77750	-0.2;-0.2;-1.12;-0.15;-0.2;-0.58;-0.2	5.7	5.7	0.88788	Rabphilin-3A effector, zinc-binding (1);	0.248756	0.28606	N	0.014742	D	0.86222	0.5881	M	0.63843	1.955	0.51233	D	0.999911	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.85130	0.994;0.997;0.997;0.994	D	0.86144	0.1583	10	0.54805	T	0.06	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	12;12;12;12	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	12	ENSP00000440384:R12H;ENSP00000374036:R12H;ENSP00000413254:R12H;ENSP00000448297:R12H;ENSP00000405357:R12H;ENSP00000450347:R12H;ENSP00000408889:R12H	ENSP00000374036:R12H	R	+	2	0	RPH3A	111750541	0.998000	0.40836	0.690000	0.30148	0.403000	0.30841	4.419000	0.59835	2.696000	0.92011	0.655000	0.94253	CGT	0.000		0.473	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113266158	G	A	113266158	3	1	12	1	0	0	0	0	1	0	0	0	13596	1145	40	1	37	1	RPH3A	12	113266158	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	29976561	113266158	20585737	109	1699											
PLBD2	196463	ucsc.edu;bcgsc.ca	37	12	113812331	113812331	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr12:113812331G>A	ENST00000280800.3	+	4	627	c.596G>A	c.(595-597)cGt>cAt	p.R199H	PLBD2_ENST00000545182.2_Missense_Mutation_p.R199H	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	199					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TACGAAGGCCGTGTGAGCTTC	0.632																																					p.R199H													.	PLBD2	33	0			c.G596A						.						31	31	31					12																	113812331		2203	4299	6502	SO:0001583	missense	196463	exon4			AAGGCCGTGTGAG	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.596G>A	12.37:g.113812331G>A	ENSP00000280800:p.Arg199His	65	0		27	4	NM_173542	F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379919	0.42207	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.24908	1.83;1.83	4.39	2.56	0.30785	.	0.235919	0.41823	N	0.000820	T	0.23289	0.0563	L	0.53561	1.675	0.26495	N	0.974874	B;B	0.16603	0.018;0.009	B;B	0.12156	0.002;0.007	T	0.16305	-1.0407	10	0.45353	T	0.12	-4.9438	9.8778	0.41213	0.1649:0.0:0.8351:0.0	.	199;199	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	H	199	ENSP00000443463:R199H;ENSP00000280800:R199H	ENSP00000280800:R199H	R	+	2	0	PLBD2	112296714	0.927000	0.31430	0.532000	0.27989	0.972000	0.66771	1.453000	0.35167	0.493000	0.27837	0.407000	0.27541	CGT	.		0.632	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		A	113812331	G	A	113812331	3	1	12	1	0	0	0	0	1	0	0	0	12065	1145	40	1	610	1	PLBD2	12	113812331	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	546173	113812331	20039564	110	1700											
BRCA2	675	hgsc.bcm.edu	37	13	32971139	32971139	+	Silent	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr13:32971139G>A	ENST00000380152.3	+	26	9839	c.9606G>A	c.(9604-9606)ccG>ccA	p.P3202P	BRCA2_ENST00000544455.1_Silent_p.P3202P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3202					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)		CTTCAGGGCCGTACACTGCTC	0.393			"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.P3202P	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	BRCA2_ENST00000544455,colon,carcinoma,0,2	BRCA2_ENST00000544455	0	0			c.G9606A						.						247	240	242					13																	32971139		2203	4300	6503	SO:0001819	synonymous_variant	675	exon26	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)	AGGGCCGTACACT	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.9606G>A	13.37:g.32971139G>A		87	0		47	2	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																			.		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32971139	G	A	32971139	2	1	12	1	0	0	0	0	0	0	0	1	1503	1132	40	1		1	BRCA2	13	32971139	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		32971139	82198739	111	1701											
CSNK1A1L	122011	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	37679178	37679178	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr13:37679178G>T	ENST00000379800.3	-	1	625	c.216C>A	c.(214-216)ggC>ggA	p.G72G		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	72	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)		TGTGGGGGATGCCAACCCCAC	0.502																																					p.G72G		.											.	.	.	0			c.C216A						.						143	124	130					13																	37679178		2203	4300	6503	SO:0001819	synonymous_variant	122011	exon1			GGGGATGCCAACC	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.216C>A	13.37:g.37679178G>T		77	0		46	4	NM_145203	Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																			.		0.502	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		T	37679178	G	T	37679178	2	4	12	1	0	0	0	0	0	0	0	1	3960	1306	46	3		3	CSNK1A1L	13	37679178	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	4708039	37679178	77490700	112	1702											
NEK5	341676	hgsc.bcm.edu	37	13	52684525	52684525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr13:52684525C>A	ENST00000355568.4	-	7	557	c.418G>T	c.(418-420)Gga>Tga	p.G140*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	140	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)		GCCACCATTCCGTTCTTGCTA	0.353																																					p.G140X		.											NEK5_ENST00000355568,NS,carcinoma,+1,2	NEK5_ENST00000355568	+1	0			c.G418T						.						141	137	139					13																	52684525		2203	4300	6503	SO:0001587	stop_gained	341676	exon7			CCATTCCGTTCTT	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.418G>T	13.37:g.52684525C>A	ENSP00000347767:p.Gly140*	131	0		89	4	NM_199289	Q5TAP5	Nonsense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858173	0.91433	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.4315	0.90627	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000347767:G140X	G	-	1	0	NEK5	51582526	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.383000	0.79741	2.365000	0.80145	0.467000	0.42956	GGA	.		0.353	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		A	52684525	C	A	52684525	4	1	12	1	0	0	0	0	0	1	0	0	10366	661	23	2	1772	2	NEK5	13	52684525	Nonsense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	15005347	52684525	62485353	113	1703											
OR4K2	390431	hgsc.bcm.edu	37	14	20344676	20344676	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr14:20344676G>T	ENST00000298642.2	+	1	286	c.250G>T	c.(250-252)Gat>Tat	p.D84Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, 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)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATGATTACAGATTACCTAAC	0.423																																					p.D84Y		.											OR4K2,NS,carcinoma,0,1	OR4K2	0	0			c.G250T						.						253	250	251					14																	20344676		2203	4300	6503	SO:0001583	missense	390431	exon1			ATTACAGATTACC		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.250G>T	14.37:g.20344676G>T	ENSP00000298642:p.Asp84Tyr	91	0		43	2	NM_001005501	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.812155	0.50527	.	.	ENSG00000165762	ENST00000298642	T	0.00420	7.47	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.119911	0.36972	N	0.002311	T	0.01489	0.0048	M	0.87328	2.875	0.34943	D	0.750485	D	0.76494	0.999	D	0.70016	0.967	T	0.49466	-0.8937	10	0.87932	D	0	.	16.4283	0.83832	0.0:0.0:1.0:0.0	.	84	Q8NGD2	OR4K2_HUMAN	Y	84	ENSP00000298642:D84Y	ENSP00000298642:D84Y	D	+	1	0	OR4K2	19414516	0.000000	0.05858	1.000000	0.80357	0.847000	0.48162	0.608000	0.24223	2.740000	0.93945	0.563000	0.77884	GAT	.		0.423	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			T	20344676	G	T	20344676	3	4	12	1	0	0	0	0	1	0	0	0	11111	942	33	3	252	3	OR4K2	14	20344676	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		20344676	87004864	114	1704											
MIPOL1	145282	hgsc.bcm.edu	37	14	37736219	37736219	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr14:37736219G>T	ENST00000327441.7	+	5	562	c.96G>T	c.(94-96)atG>atT	p.M32I	MIPOL1_ENST00000537471.1_Missense_Mutation_p.M32I|MIPOL1_ENST00000556451.1_Start_Codon_SNP_p.M1I|MIPOL1_ENST00000539062.2_Start_Codon_SNP_p.M1I|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000545536.1_Start_Codon_SNP_p.M1I|MIPOL1_ENST00000396294.2_Missense_Mutation_p.M32I	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	32						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AACTGACTATGAATTCTGAGA	0.363																																					p.M32I		.											MIPOL1,NS,carcinoma,0,1	MIPOL1	0	0			c.G96T						.						104	100	102					14																	37736219		2203	4300	6503	SO:0001583	missense	145282	exon6			GACTATGAATTCT	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.96G>T	14.37:g.37736219G>T	ENSP00000333539:p.Met32Ile	68	0		38	2	NM_001195296	D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902236	0.17760	.	.	ENSG00000151338	ENST00000556615;ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.48201	1.0;0.88;0.82;1.0;1.0;0.82	5.19	3.3	0.37823	.	0.662135	0.14760	N	0.300051	T	0.31544	0.0800	L	0.29908	0.895	0.25104	N	0.990766	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.003	T	0.12811	-1.0533	10	0.25106	T	0.35	-0.0789	6.4739	0.22024	0.0986:0.1979:0.7036:0.0	.	32;1	Q8TD10;Q49AL5	MIPO1_HUMAN;.	I	32;32;1;1;32;32;32;1	ENSP00000333539:M32I;ENSP00000438319:M1I;ENSP00000450479:M1I;ENSP00000379589:M32I;ENSP00000444254:M32I;ENSP00000442529:M1I	ENSP00000333539:M32I	M	+	3	0	MIPOL1	36805970	0.903000	0.30736	0.415000	0.26534	0.066000	0.16364	1.758000	0.38410	1.425000	0.47237	0.655000	0.94253	ATG	.		0.363	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		T	37736219	G	T	37736219	3	4	12	1	0	0	0	0	1	0	0	0	9631	1290	45	3	102	3	MIPOL1	14	37736219	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	17391543	37736219	69613321	115	1705											
ABHD12B	145447	hgsc.bcm.edu	37	14	51370833	51370833	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr14:51370833G>T	ENST00000337334.2	+	12	999	c.984G>T	c.(982-984)agG>agT	p.R328S	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Missense_Mutation_p.R221S|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R251S	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	328							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					ACAAAGAGAGGGTCAAGATGG	0.428																																					p.R328S		.											ABHD12B_ENST00000337334,NS,haematopoietic_neoplasm,0,2	ABHD12B_ENST00000337334	0	0			c.G984T						.						196	191	193					14																	51370833		2203	4300	6503	SO:0001583	missense	145447	exon12			AGAGAGGGTCAAG	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.984G>T	14.37:g.51370833G>T	ENSP00000336693:p.Arg328Ser	55	0		27	2	NM_001206673	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473991	0.84640	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.42131	2.27;0.98;2.27	4.94	4.94	0.65067	.	0.162995	0.53938	D	0.000041	T	0.43100	0.1232	L	0.59436	1.845	0.47037	D	0.999296	B;B	0.32968	0.392;0.34	B;B	0.37989	0.262;0.113	T	0.20840	-1.0263	10	0.18710	T	0.47	-19.8804	15.7423	0.77910	0.0:0.0:1.0:0.0	.	328;251	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	S	251;328;221	ENSP00000343951:R251S;ENSP00000336693:R328S;ENSP00000379101:R221S	ENSP00000336693:R328S	R	+	3	2	ABHD12B	50440583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.861000	0.48380	2.675000	0.91044	0.655000	0.94253	AGG	.		0.428	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			T	51370833	G	T	51370833	3	4	12	1	0	0	0	0	1	0	0	0	77	1223	43	3	809	3	ABHD12B	14	51370833	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	13634614	51370833	55978707	116	1706											
RDH12	145226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	68195982	68195982	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr14:68195982T>A	ENST00000551171.1	+	8	1057	c.733T>A	c.(733-735)Tgc>Agc	p.C245S	RDH12_ENST00000267502.3_Missense_Mutation_p.C245S|RDH12_ENST00000539142.1_Missense_Mutation_p.C245S	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	245					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)	CTCCCTGCTCTGCCTGCTCTG	0.672																																					p.C245S		.											.	.	.	0			c.T733A						.						75	74	74					14																	68195982		2203	4300	6503	SO:0001583	missense	145226	exon8			CTGCTCTGCCTGC	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.733T>A	14.37:g.68195982T>A	ENSP00000449079:p.Cys245Ser	46	0		14	5	NM_152443	B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301121	0.40694	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.84070	-1.8;-1.8;-1.8	5.89	4.73	0.59995	NAD(P)-binding domain (1);	0.147737	0.42420	D	0.000702	T	0.56615	0.1997	N	0.01219	-0.95	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.49854	-0.8895	10	0.17369	T	0.5	.	9.4186	0.38536	0.3497:0.0:0.0:0.6503	.	245	Q96NR8	RDH12_HUMAN	S	245	ENSP00000449079:C245S;ENSP00000267502:C245S;ENSP00000438715:C245S	ENSP00000267502:C245S	C	+	1	0	RDH12	67265735	1.000000	0.71417	0.444000	0.26895	0.662000	0.39071	1.415000	0.34748	1.021000	0.39600	0.533000	0.62120	TGC	.		0.672	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			A	68195982	T	A	68195982	3	1	12	1	0	0	0	0	1	0	0	0	13236	1580	55	5	755	5	RDH12	14	68195982	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	16825149	68195982	39153558	117	1707											
ANGEL1	23357	broad.mit.edu;bcgsc.ca	37	14	77275681	77275681	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr14:77275681C>A	ENST00000251089.2	-	2	482	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	124										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)		AAAGGCTCATCCAGGTTCTCT	0.597																																					p.D124Y													.	ANGEL1	63	0			c.G370T						.						42	45	44					14																	77275681		2203	4300	6503	SO:0001583	missense	23357	exon2			GCTCATCCAGGTT	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.370G>T	14.37:g.77275681C>A	ENSP00000251089:p.Asp124Tyr	19	0		6	3	NM_015305	B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	6.394	0.440820	0.12104	.	.	ENSG00000013523	ENST00000251089	T	0.24908	1.83	5.36	3.51	0.40186	.	0.759067	0.12267	N	0.484161	T	0.15522	0.0374	N	0.19112	0.55	0.23889	N	0.996559	P;B	0.45827	0.867;0.327	B;B	0.41813	0.367;0.087	T	0.12967	-1.0527	10	0.59425	D	0.04	-0.0376	2.9867	0.05970	0.1351:0.5559:0.1479:0.1611	.	124;124	B4DVG4;Q9UNK9	.;ANGE1_HUMAN	Y	124	ENSP00000251089:D124Y	ENSP00000251089:D124Y	D	-	1	0	ANGEL1	76345434	0.517000	0.26226	0.761000	0.31378	0.052000	0.14988	0.184000	0.16939	0.634000	0.30469	0.655000	0.94253	GAT	.		0.597	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		A	77275681	C	A	77275681	3	1	12	1	0	0	0	0	1	0	0	0	608	855	30	3	1678	3	ANGEL1	14	77275681	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	9079699	77275681	30073859	118	1708											
TRIP11	9321	hgsc.bcm.edu;bcgsc.ca	37	14	92474186	92474186	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr14:92474186T>C	ENST00000267622.4	-	10	1698	c.1325A>G	c.(1324-1326)cAg>cGg	p.Q442R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	442					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)		AAGTGACATCTGAAGTTCTTC	0.294			T	PDGFRB	AML																																p.Q442R	Ovarian(84;609 1888 9852 42686)	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	.	0			c.A1325G						.						51	47	48					14																	92474186		2200	4295	6495	SO:0001583	missense	9321	exon10			GACATCTGAAGTT	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.1325A>G	14.37:g.92474186T>C	ENSP00000267622:p.Gln442Arg	60	0		62	4	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452068	0.26074	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.56611	0.45	5.85	5.85	0.93711	.	0.276460	0.34291	N	0.004096	T	0.60196	0.2250	M	0.69823	2.125	0.29721	N	0.838633	B;P	0.52463	0.029;0.953	B;P	0.48982	0.018;0.597	T	0.61272	-0.7096	10	0.21014	T	0.42	.	16.2483	0.82460	0.0:0.0:0.0:1.0	.	178;442	F5H1Z0;Q15643	.;TRIPB_HUMAN	R	442;178	ENSP00000267622:Q442R	ENSP00000267622:Q442R	Q	-	2	0	TRIP11	91543939	1.000000	0.71417	0.634000	0.29324	0.104000	0.19210	4.873000	0.63057	2.237000	0.73441	0.459000	0.35465	CAG	.		0.294	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92474186	T	C	92474186	3	2	12	1	0	0	0	0	1	0	0	0	16603	1580	55	4	4662	4	TRIP11	14	92474186	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	15198505	92474186	14875354	119	1709											
TECPR2	9895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	102891358	102891358	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr14:102891358G>T	ENST00000359520.7	+	6	907	c.681G>T	c.(679-681)aaG>aaT	p.K227N	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.K227N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	227					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						GACTCTGTAAGCAAAGTGATC	0.413																																					p.K227N		.											.	.	.	0			c.G681T						.						107	115	112					14																	102891358		2203	4300	6503	SO:0001583	missense	9895	exon6			CTGTAAGCAAAGT	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.681G>T	14.37:g.102891358G>T	ENSP00000352510:p.Lys227Asn	89	0		41	18	NM_001172631	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	g	18.45	3.626126	0.66901	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.24908	1.83	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	L	0.55481	1.735	0.39849	D	0.973217	D;D	0.89917	0.983;1.0	P;D	0.87578	0.81;0.998	T	0.17837	-1.0356	10	0.24483	T	0.36	.	11.7176	0.51663	0.1291:0.0:0.8709:0.0	.	227;227	A5PKY3;O15040	.;TCPR2_HUMAN	N	227	ENSP00000352510:K227N	ENSP00000352510:K227N	K	+	3	2	TECPR2	101961111	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.566000	0.36396	2.419000	0.82065	0.552000	0.68991	AAG	.		0.413	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		T	102891358	G	T	102891358	3	4	12	1	0	0	0	0	1	0	0	0	15791	962	34	3	699	3	TECPR2	14	102891358	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	10417172	102891358	4458182	120	1710											
TP53BP1	7158	hgsc.bcm.edu	37	15	43708493	43708493	+	Silent	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr15:43708493C>A	ENST00000263801.3	-	22	5040	c.4788G>T	c.(4786-4788)ctG>ctT	p.L1596L	TP53BP1_ENST00000382044.4_Silent_p.L1601L|TP53BP1_ENST00000450115.2_Silent_p.L1601L|TP53BP1_ENST00000382039.3_Silent_p.L1551L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1596	Tudor-like.				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)	p.L1596L(1)		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)		ACTGCTCTCTCAGTCTGTTTC	0.468								Other conserved DNA damage response genes																													p.L1601L		.											TP53BP1,NS,carcinoma,0,1	TP53BP1	0	1	Substitution - coding silent(1)	endometrium(1)	c.G4803T						.						183	154	164					15																	43708493		2201	4298	6499	SO:0001819	synonymous_variant	7158	exon22			CTCTCTCAGTCTG	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.4788G>T	15.37:g.43708493C>A		49	0		32	3	NM_001141980	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	CCDS10096.1																																																																																			.		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43708493	C	A	43708493	2	1	12	1	0	0	0	0	0	0	0	1	16431	813	29	3		3	TP53BP1	15	43708493	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09		43708493	58822899	121	1711											
NEDD4	4734	hgsc.bcm.edu	37	15	56258687	56258687	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr15:56258687C>T	ENST00000435532.3	-	2	293	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_006154.2	NP_006145.2	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	0					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)		CCCAATATATCCTTCTTGGCA	0.279																																					p.D35N		.											.	.	.	0			c.G103A						.						30	28	29					15																	56258687		1774	3988	5762	SO:0001583	missense	4734	exon2			ATATATCCTTCTT	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	ENST00000435532.3:c.103G>A	15.37:g.56258687C>T	ENSP00000410613:p.Asp35Asn	121	0		78	2	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000435532.3	37	CCDS45265.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314921	0.81358	.	.	ENSG00000069869	ENST00000435532	T	0.74526	-0.85	5.36	5.36	0.76844	.	.	.	.	.	D	0.85570	0.5727	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	D	0.87098	0.2177	8	0.72032	D	0.01	.	14.5886	0.68347	0.0:1.0:0.0:0.0	.	35	P46934-4	.	N	35	ENSP00000410613:D35N	ENSP00000410613:D35N	D	-	1	0	NEDD4	54045979	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.173000	0.65010	2.513000	0.84729	0.467000	0.42956	GAT	.		0.279	NEDD4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359821.2	NM_198400		T	56258687	C	T	56258687	3	4	12	1	0	0	0	0	1	0	0	0	10349	855	30	3	4263	3	NEDD4	15	56258687	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	12550194	56258687	46272705	122	1712											
TLN2	83660	hgsc.bcm.edu	37	15	62939540	62939540	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr15:62939540C>T	ENST00000561311.1	+	3	261	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	TLN2_ENST00000306829.6_Missense_Mutation_p.R11C|RP11-625H11.1_ENST00000558940.1_5'Flank|RP11-625H11.1_ENST00000560347.1_5'Flank			Q9Y4G6	TLN2_HUMAN	talin 2	11					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						GATTTGTGTGCGCCACTGCAA	0.488																																					p.R11C		.											TLN2,bladder,carcinoma,0,1	TLN2	0	0			c.C31T						.						169	145	153					15																	62939540		2203	4300	6503	SO:0001583	missense	83660	exon1			TGTGTGCGCCACT	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.31C>T	15.37:g.62939540C>T	ENSP00000453508:p.Arg11Cys	47	0		27	3	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618480	0.87359	.	.	ENSG00000171914	ENST00000306829	T	0.68331	-0.32	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.58266	0.836	T	0.71368	-0.4614	10	0.56958	D	0.05	-13.1671	18.7456	0.91791	0.0:1.0:0.0:0.0	.	11	Q9Y4G6	TLN2_HUMAN	C	11	ENSP00000303476:R11C	ENSP00000303476:R11C	R	+	1	0	TLN2	60726832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.606000	0.67641	2.748000	0.94277	0.655000	0.94253	CGC	.		0.488	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	62939540	C	T	62939540	3	4	12	1	0	0	0	0	1	0	0	0	15995	768	27	1	33	1	TLN2	15	62939540	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	6680853	62939540	39591852	123	1713											
WDR61	80349	hgsc.bcm.edu	37	15	78580718	78580718	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr15:78580718G>T	ENST00000267973.2	-	8	840	c.569C>A	c.(568-570)gCc>gAc	p.A190D	WDR61_ENST00000559332.1_5'Flank|WDR61_ENST00000558311.1_Missense_Mutation_p.A190D|WDR61_ENST00000558459.1_Missense_Mutation_p.A97D			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	190					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|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)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AATGGGCATGGCATGGCCTGA	0.478																																					p.A190D		.											WDR61,colon,carcinoma,0,1	WDR61	0	0			c.C569A						.						157	120	133					15																	78580718		2196	4293	6489	SO:0001583	missense	80349	exon8			GGCATGGCATGGC		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.569C>A	15.37:g.78580718G>T	ENSP00000267973:p.Ala190Asp	47	0		27	2	NM_025234	D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376655	0.95945	.	.	ENSG00000140395	ENST00000267973	T	0.59638	0.25	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047802	0.85682	D	0.000000	T	0.55768	0.1941	N	0.20881	0.62	0.80722	D	1	D	0.56746	0.977	P	0.50590	0.645	T	0.52480	-0.8570	10	0.34782	T	0.22	-2.7593	19.2252	0.93815	0.0:0.0:1.0:0.0	.	190	Q9GZS3	WDR61_HUMAN	D	190	ENSP00000267973:A190D	ENSP00000267973:A190D	A	-	2	0	WDR61	76367773	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	9.382000	0.97209	2.788000	0.95919	0.555000	0.69702	GCC	.		0.478	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		T	78580718	G	T	78580718	3	4	12	1	0	0	0	0	1	0	0	0	17361	1203	42	3	364	3	WDR61	15	78580718	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	15641178	78580718	23950674	124	1714											
RCCD1	91433	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	91504867	91504867	+	Silent	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr15:91504867C>T	ENST00000394258.2	+	8	1201	c.999C>T	c.(997-999)ggC>ggT	p.G333G	RCCD1_ENST00000555155.1_Silent_p.G331G|RCCD1_ENST00000556618.1_Silent_p.G333G	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	333						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			GACAGCTGGGCCACGAGGACA	0.547																																					p.G333G		.											.	.	.	0			c.C999T						.						115	99	104					15																	91504867		2198	4298	6496	SO:0001819	synonymous_variant	91433	exon8			GCTGGGCCACGAG		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.999C>T	15.37:g.91504867C>T		52	0		27	4	NM_001017919	B2RTP9|Q29RX6	Silent	SNP	ENST00000394258.2	37	CCDS32333.1																																																																																			.		0.547	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		T	91504867	C	T	91504867	2	4	12	1	0	0	0	0	0	0	0	1	13220	726	26	3		3	RCCD1	15	91504867	Silent	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	12924149	91504867	11026525	125	1715											
PKD1	5310	hgsc.bcm.edu;bcgsc.ca	37	16	2162835	2162835	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:2162835G>T	ENST00000262304.4	-	13	3323	c.3115C>A	c.(3115-3117)Ctg>Atg	p.L1039M	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.L1039M	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1039	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						CCCGCCGTCAGTGCTAGCGTG	0.662																																					p.L1039M		.											.	.	.	0			c.C3115A						.						84	80	82					16																	2162835		2197	4299	6496	SO:0001583	missense	5310	exon13			CCGTCAGTGCTAG	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.3115C>A	16.37:g.2162835G>T	ENSP00000262304:p.Leu1039Met	86	0		79	5	NM_000296	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.19	2.162423	0.38217	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.63744	-0.06;-0.06	4.99	4.02	0.46733	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.077113	0.51477	D	0.000093	T	0.73567	0.3603	M	0.72894	2.215	0.36834	D	0.887039	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.76892	-0.2791	10	0.59425	D	0.04	.	6.377	0.21513	0.1617:0.1615:0.6768:0.0	.	1039;1039	P98161-3;P98161	.;PKD1_HUMAN	M	1039;1039;754	ENSP00000262304:L1039M;ENSP00000399501:L1039M	ENSP00000262304:L1039M	L	-	1	2	PKD1	2102836	0.895000	0.30542	0.036000	0.18154	0.003000	0.03518	1.647000	0.37260	1.080000	0.41073	0.645000	0.84053	CTG	.		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			T	2162835	G	T	2162835	3	4	12	1	0	0	0	0	1	0	0	0	12002	1020	36	3	9932	3	PKD1	16	2162835	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		2162835	88191918	126	1716											
MGRN1	23295	hgsc.bcm.edu	37	16	4733264	4733264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:4733264C>T	ENST00000399577.5	+	15	1615	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	MGRN1_ENST00000262370.7_Nonsense_Mutation_p.Q508*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.Q486*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.Q486*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.Q487*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	508					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GTCGTCACCACAGCAAGGTGA	0.592																																					p.Q508X		.											.	.	.	0			c.C1522T						.						55	60	59					16																	4733264		2087	4236	6323	SO:0001587	stop_gained	23295	exon15			TCACCACAGCAAG	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1522C>T	16.37:g.4733264C>T	ENSP00000382487:p.Gln508*	74	0		61	4	NM_015246	A4URL3|A4URL4|Q86W76	Nonsense_Mutation	SNP	ENST00000399577.5	37	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124551	0.94429	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496	.	.	.	4.34	3.23	0.37069	.	0.905606	0.09298	U	0.821351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.8417	10.1291	0.42667	0.4741:0.5259:0.0:0.0	.	.	.	.	X	508;508;487	.	ENSP00000262370:Q508X	Q	+	1	0	MGRN1	4673265	0.997000	0.39634	0.360000	0.25837	0.001000	0.01503	2.421000	0.44688	0.210000	0.20664	-1.489000	0.00976	CAG	.		0.592	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			T	4733264	C	T	4733264	4	4	12	1	0	0	0	0	0	1	0	0	9597	479	17	3	1583	3	MGRN1	16	4733264	Nonsense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	2570429	4733264	85621489	127	1717											
ZC3H7A	29066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	11859523	11859523	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:11859523T>C	ENST00000396516.2	-	13	1738	c.1541A>G	c.(1540-1542)gAa>gGa	p.E514G	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E514G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	514						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						ATATCTACATTCCTCCTCAGC	0.502																																					p.E514G		.											.	.	.	0			c.A1541G						.						94	81	85					16																	11859523		2197	4300	6497	SO:0001583	missense	29066	exon14			CTACATTCCTCCT	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.1541A>G	16.37:g.11859523T>C	ENSP00000379773:p.Glu514Gly	51	0		33	9	NM_014153	D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.228561	0.58777	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09163	3.01;3.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.51422	1.61	0.80722	D	1	B;B	0.27013	0.166;0.103	B;B	0.33750	0.169;0.082	T	0.03739	-1.1008	10	0.33940	T	0.23	.	15.3479	0.74355	0.0:0.0:0.0:1.0	.	235;514	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	G	514	ENSP00000347999:E514G;ENSP00000379773:E514G	ENSP00000347999:E514G	E	-	2	0	ZC3H7A	11767024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.210000	0.71456	0.533000	0.62120	GAA	.		0.502	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		C	11859523	T	C	11859523	3	2	12	1	0	0	0	0	1	0	0	0	17620	1783	62	4	1414	4	ZC3H7A	16	11859523	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	7126259	11859523	78495230	128	1718											
ARMC5	79798	hgsc.bcm.edu	37	16	31471168	31471169	+	Frame_Shift_Ins	INS	-	-	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:31471168_31471169insC	ENST00000563544.1	+	2	869_870	c.323_324insC	c.(322-327)ggccccfs	p.GP108fs	ARMC5_ENST00000538189.1_Frame_Shift_Ins_p.GP140fs|ARMC5_ENST00000408912.3_Frame_Shift_Ins_p.GP203fs|ARMC5_ENST00000268314.4_Frame_Shift_Ins_p.GP108fs|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000457010.2_Frame_Shift_Ins_p.GP108fs|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	108										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						cccgcgtcgggccccgcccccT	0.748																																					p.G108fs		.											.	.	.	0			c.323_324insC						.																																			SO:0001589	frameshift_variant	79798	exon1			CGTCGGGCCCCGC	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.327dupC	16.37:g.31471172_31471172dupC	ENSP00000456877:p.Gly108fs	43	0		36	10	NM_024742	Q86WM9|Q9H7P8|Q9H925	Frame_Shift_Ins	INS	ENST00000563544.1	37	CCDS45472.1																																																																																			.		0.748	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		C	31471169	-	C	31471168	7	5	12	1	0	1	1	0	0	0	0	0	955	1203	42	0	325	0	ARMC5	16	31471168	Frame_Shift_Ins	INS	-	TCGA-W5-AA2Q-01A-11D-A417-09	19611645	31471168	58883585	129	1719											
C16orf86	388284	hgsc.bcm.edu;bcgsc.ca	37	16	67702300	67702300	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:67702300C>T	ENST00000403458.4	+	4	906	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	251										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTCGCTTTGCCCTGTCCCAG	0.687											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P251S		.											.	.	.	0			c.C751T						.						21	27	25					16																	67702300		2085	4200	6285	SO:0001583	missense	388284	exon4			GCTTTGCCCTGTC		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.751C>T	16.37:g.67702300C>T	ENSP00000384117:p.Pro251Ser	59	0	1101	52	4	NM_001012984	B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776472	0.49786	.	.	ENSG00000159761	ENST00000403458	.	.	.	4.94	3.98	0.46160	.	.	.	.	.	T	0.37839	0.1018	L	0.32530	0.975	0.28437	N	0.917008	D	0.60160	0.987	P	0.53518	0.728	T	0.16070	-1.0415	8	0.87932	D	0	-11.3603	8.5067	0.33193	0.0:0.898:0.0:0.102	.	251	Q6ZW13	CP086_HUMAN	S	251	.	ENSP00000384117:P251S	P	+	1	0	C16orf86	66259801	0.028000	0.19301	0.965000	0.40720	0.249000	0.25844	0.219000	0.17641	2.724000	0.93272	0.563000	0.77884	CCC	.		0.687	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		T	67702300	C	T	67702300	3	4	12	1	0	0	0	0	1	0	0	0	1844	739	26	3	765	3	C16orf86	16	67702300	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	36231132	67702300	22652453	130	1720											
HAS3	3038	bcgsc.ca	37	16	69148716	69148716	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:69148716G>T	ENST00000306560.1	+	4	1365	c.1209G>T	c.(1207-1209)cgG>cgT	p.R403R	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.R403R	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	403					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TTTTCTACCGGGGCCGCATCT	0.547																																					p.R403R													.	HAS3	61	0			c.G1209T						.						119	111	114					16																	69148716		2198	4300	6498	SO:0001819	synonymous_variant	3038	exon4			CTACCGGGGCCGC	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1209G>T	16.37:g.69148716G>T		26	0		17	3	NM_005329	A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	CCDS10871.1																																																																																			.		0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		T	69148716	G	T	69148716	2	4	12	1	0	0	0	0	0	0	0	1	6990	1219	43	3		3	HAS3	16	69148716	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	1446416	69148716	21206037	131	1721											
GLG1	2734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	74505136	74505136	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:74505136T>A	ENST00000422840.2	-	15	2163	c.2164A>T	c.(2164-2166)Ata>Tta	p.I722L	GLG1_ENST00000447066.2_Missense_Mutation_p.I711L|GLG1_ENST00000205061.5_Missense_Mutation_p.I722L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	722					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						TTGTTCTGTATCAGACACTCC	0.468																																					p.I722L		.											.	.	.	0			c.A2164T						.						347	292	311					16																	74505136		2198	4300	6498	SO:0001583	missense	2734	exon15			TCTGTATCAGACA		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.2164A>T	16.37:g.74505136T>A	ENSP00000405984:p.Ile722Leu	49	0		23	11	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038565	0.93630	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.17	6.17	0.99709	.	0.051523	0.85682	D	0.000000	T	0.52773	0.1755	N	0.20574	0.59	0.80722	D	1	B;P;P	0.44309	0.223;0.798;0.832	B;B;P	0.47346	0.17;0.409;0.544	T	0.55503	-0.8131	9	0.49607	T	0.09	-5.198	16.8222	0.85835	0.0:0.0:0.0:1.0	.	722;722;711	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	L	722;711;722	.	ENSP00000205061:I722L	I	-	1	0	GLG1	73062637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.904000	0.63279	2.371000	0.80710	0.533000	0.62120	ATA	.		0.468	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		A	74505136	T	A	74505136	3	1	12	1	0	0	0	0	1	0	0	0	6462	1435	50	5	1503	5	GLG1	16	74505136	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	5356420	74505136	15849617	132	1722											
SNAI3	333929	ucsc.edu;bcgsc.ca	37	16	88747696	88747696	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr16:88747696G>A	ENST00000332281.5	-	2	589	c.503C>T	c.(502-504)gCc>gTc	p.A168V	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	168					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CCGGTGCCTGGCCAGCCCGGC	0.652																																					p.A168V	Colon(27;366 710 19748 23199 27567)												.	SNAI3	23	0			c.C503T						.						47	51	50					16																	88747696		2198	4299	6497	SO:0001583	missense	333929	exon2			TGCCTGGCCAGCC	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.503C>T	16.37:g.88747696G>A	ENSP00000327968:p.Ala168Val	40	0		33	4	NM_178310	Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970413	0.74246	.	.	ENSG00000185669	ENST00000332281	T	0.05996	3.36	4.37	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.268725	0.34676	N	0.003768	T	0.06462	0.0166	L	0.37897	1.145	0.40559	D	0.981195	B	0.34181	0.44	B	0.38378	0.272	T	0.43180	-0.9407	10	0.16896	T	0.51	-12.0956	10.95	0.47323	0.0:0.0:0.8116:0.1884	.	168	Q3KNW1	SNAI3_HUMAN	V	168	ENSP00000327968:A168V	ENSP00000327968:A168V	A	-	2	0	SNAI3	87275197	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	3.889000	0.56212	0.922000	0.37019	0.491000	0.48974	GCC	.		0.652	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			A	88747696	G	A	88747696	3	1	12	1	0	0	0	0	1	0	0	0	14873	1203	42	3	383	3	SNAI3	16	88747696	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	14242560	88747696	1607057	133	1723											
MYBBP1A	10514	broad.mit.edu	37	17	4458229	4458229	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr17:4458229A>T	ENST00000254718.4	-	2	527	c.221T>A	c.(220-222)cTg>cAg	p.L74Q	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L74Q			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	74	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						TAGACGCTTCAGGGCATATTT	0.632																																					p.L74Q													.	MYBBP1A	69	0			c.T221A						.						48	50	49					17																	4458229		2203	4300	6503	SO:0001583	missense	10514	exon2			CGCTTCAGGGCAT	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.221T>A	17.37:g.4458229A>T	ENSP00000254718:p.Leu74Gln	97	0		52	3	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617314	0.66672	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.67171	-0.25;-0.25	4.73	3.63	0.41609	Armadillo-type fold (1);	0.163970	0.41938	D	0.000785	T	0.65344	0.2682	M	0.64997	1.995	0.33338	D	0.569494	P;P	0.42908	0.793;0.754	B;B	0.43658	0.426;0.3	T	0.75808	-0.3187	10	0.87932	D	0	-21.219	9.9819	0.41819	0.8481:0.0:0.0:0.1519	.	74;74	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	Q	74	ENSP00000370968:L74Q;ENSP00000254718:L74Q	ENSP00000254718:L74Q	L	-	2	0	MYBBP1A	4404978	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.614000	0.61183	0.910000	0.36722	0.533000	0.62120	CTG	.		0.632	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4458229	A	T	4458229	3	4	12	1	0	0	0	0	1	0	0	0	10046	188	7	5	3905	5	MYBBP1A	17	4458229	Missense_Mutation	SNP	A	TCGA-W5-AA2Q-01A-11D-A417-09		4458229	76736981	134	1724											
ALOX15	246	bcgsc.ca	37	17	4542400	4542400	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr17:4542400C>T	ENST00000570836.1	-	4	461	c.365G>A	c.(364-366)gGc>gAc	p.G122D	ALOX15_ENST00000293761.3_Missense_Mutation_p.G122D|ALOX15_ENST00000545513.1_Missense_Mutation_p.G144D|ALOX15_ENST00000574640.1_Missense_Mutation_p.G83D			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	122	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)		CTGGAACAGGCCCTGAGGGTC	0.597																																					p.G122D													.	ALOX15	70	0			c.G365A						.						145	134	138					17																	4542400		2203	4300	6503	SO:0001583	missense	246	exon3			AACAGGCCCTGAG	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.365G>A	17.37:g.4542400C>T	ENSP00000458832:p.Gly122Asp	44	0		18	3	NM_001140	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	0.259	-1.000997	0.02128	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.06528	3.29;3.29	4.22	1.09	0.20402	Lipoxygenase, C-terminal (2);	0.452245	0.21652	N	0.071162	T	0.02970	0.0088	N	0.16743	0.435	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.002;0.009;0.008	T	0.47446	-0.9117	10	0.06236	T	0.91	-0.0774	6.4335	0.21811	0.0:0.683:0.0:0.317	.	144;83;122	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	D	122;144	ENSP00000293761:G122D;ENSP00000439855:G144D	ENSP00000293761:G122D	G	-	2	0	ALOX15	4489149	0.000000	0.05858	0.008000	0.14137	0.029000	0.11900	-0.783000	0.04638	0.181000	0.19994	-0.140000	0.14226	GGC	.		0.597	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			T	4542400	C	T	4542400	3	4	12	1	0	0	0	0	1	0	0	0	538	739	26	3	1671	3	ALOX15	17	4542400	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09	84171	4542400	76652810	135	1725											
TMEM11	8834	broad.mit.edu;bcgsc.ca	37	17	21101947	21101947	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr17:21101947G>A	ENST00000317635.5	-	2	740	c.269C>T	c.(268-270)aCc>aTc	p.T90I	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	90					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GAGGCAGGCGGTGCCCGCCAG	0.617																																					p.T90I													.	TMEM11	15	0			c.C269T						.						36	31	33					17																	21101947		2202	4295	6497	SO:0001583	missense	8834	exon2			CAGGCGGTGCCCG	BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 35"	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.269C>T	17.37:g.21101947G>A	ENSP00000319992:p.Thr90Ile	29	0		14	7	NM_003876	Q53YB2	Missense_Mutation	SNP	ENST00000317635.5	37	CCDS11216.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761861	0.31228	.	.	ENSG00000178307	ENST00000317635	.	.	.	5.79	4.76	0.60689	.	0.187541	0.56097	D	0.000022	T	0.38878	0.1057	N	0.11064	0.09	0.53688	D	0.99997	B	0.09022	0.002	B	0.06405	0.002	T	0.20571	-1.0271	9	0.13853	T	0.58	-29.5582	18.4904	0.90844	0.0:0.1273:0.8727:0.0	.	90	P17152	TMM11_HUMAN	I	90	.	ENSP00000319992:T90I	T	-	2	0	TMEM11	21042539	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	6.148000	0.71788	2.735000	0.93741	0.655000	0.94253	ACC	.		0.617	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444150.2	NM_003876		A	21101947	G	A	21101947	3	1	12	1	0	0	0	0	1	0	0	0	16073	1261	44	3	313	3	TMEM11	17	21101947	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	16559547	21101947	60093263	136	1726											
SPAG9	9043	hgsc.bcm.edu	37	17	49059961	49059961	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr17:49059961G>T	ENST00000262013.7	-	25	3369	c.3161C>A	c.(3160-3162)aCt>aAt	p.T1054N	SPAG9_ENST00000510283.1_Missense_Mutation_p.T897N|SPAG9_ENST00000505279.1_Missense_Mutation_p.T1044N|SPAG9_ENST00000357122.4_Missense_Mutation_p.T1040N	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1054					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)			ATGTACCACAGTCATGCAACG	0.403																																					p.T1054N		.											SPAG9_ENST00000262013,NS,carcinoma,0,2	SPAG9_ENST00000262013	0	0			c.C3161A						.						153	143	147					17																	49059961		2203	4300	6503	SO:0001583	missense	9043	exon25			ACCACAGTCATGC	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.3161C>A	17.37:g.49059961G>T	ENSP00000262013:p.Thr1054Asn	75	1		51	3	NM_001130528	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464244	0.84425	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046039	0.85682	D	0.000000	T	0.53012	0.1770	M	0.69823	2.125	0.52099	D	0.999942	P;P;D;P	0.54207	0.758;0.864;0.965;0.948	B;P;P;P	0.54270	0.438;0.598;0.747;0.676	T	0.54622	-0.8266	10	0.66056	D	0.02	-15.7558	15.5855	0.76479	0.0:0.137:0.863:0.0	.	1044;1054;1040;897	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	N	1054;811;801;591;897;1044;1040;652	ENSP00000262013:T1054N;ENSP00000423165:T897N;ENSP00000426900:T1044N;ENSP00000349636:T1040N	ENSP00000262013:T1054N	T	-	2	0	SPAG9	46414960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.763000	0.94921	0.561000	0.74099	ACT	.		0.403	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		T	49059961	G	T	49059961	3	4	12	1	0	0	0	0	1	0	0	0	15032	1029	36	3	828	3	SPAG9	17	49059961	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	27958014	49059961	32135249	137	1727											
ABCA8	10351	hgsc.bcm.edu	37	17	66877304	66877304	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr17:66877304G>T	ENST00000269080.2	-	30	4012	c.3875C>A	c.(3874-3876)tCc>tAc	p.S1292Y	ABCA8_ENST00000430352.2_Missense_Mutation_p.S1332Y|ABCA8_ENST00000586539.1_Missense_Mutation_p.S1332Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1292	ABC transporter 2. {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)					CACCTTAATGGATGTGCTTTT	0.313																																					p.S1292Y		.											ABCA8,NS,carcinoma,0,1	ABCA8	0	0			c.C3875A						.						135	121	126					17																	66877304		2203	4299	6502	SO:0001583	missense	10351	exon30			TTAATGGATGTGC	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.3875C>A	17.37:g.66877304G>T	ENSP00000269080:p.Ser1292Tyr	61	0		48	2	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632559	0.47049	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.93763	-3.28;-3.28	4.3	1.13	0.20643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.169906	0.29424	N	0.012182	D	0.92694	0.7678	L	0.36672	1.1	0.09310	N	1	D;D;D	0.63880	0.993;0.982;0.993	D;P;D	0.70016	0.956;0.891;0.967	D	0.84871	0.0825	10	0.87932	D	0	.	6.1702	0.20412	0.2439:0.1369:0.6192:0.0	.	1332;1332;1292	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	Y	1292;1332	ENSP00000269080:S1292Y;ENSP00000402814:S1332Y	ENSP00000269080:S1292Y	S	-	2	0	ABCA8	64388899	0.000000	0.05858	0.505000	0.27651	0.995000	0.86356	0.782000	0.26788	0.188000	0.20168	0.655000	0.94253	TCC	.		0.313	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		T	66877304	G	T	66877304	3	4	12	1	0	0	0	0	1	0	0	0	38	1174	41	3	906	3	ABCA8	17	66877304	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	17817343	66877304	14317906	138	1728											
RNF213	57674	hgsc.bcm.edu	37	17	78302195	78302195	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr17:78302195G>T	ENST00000582970.1	+	20	3578	c.3435G>T	c.(3433-3435)gaG>gaT	p.E1145D	RNF213_ENST00000456466.1_Missense_Mutation_p.E1145D|RNF213_ENST00000508628.2_Missense_Mutation_p.E1194D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1145					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)			GGAGAAGGGAGGAACTGTTAC	0.418																																					p.E1145D		.											RNF213_ENST00000456466,NS,carcinoma,0,2	RNF213_ENST00000456466	0	0			c.G3435T						.						194	178	182					17																	78302195		692	1591	2283	SO:0001583	missense	57674	exon20			AAGGGAGGAACTG	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.3435G>T	17.37:g.78302195G>T	ENSP00000464087:p.Glu1145Asp	84	0		49	2	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	1.214	-0.628833	0.03610	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466	.	.	.	4.79	-9.58	0.00559	.	.	.	.	.	T	0.11580	0.0282	N	0.05199	-0.095	0.19300	N	0.999974	B	0.12013	0.005	B	0.12156	0.007	T	0.33879	-0.9851	8	0.11485	T	0.65	0.0112	4.2994	0.10916	0.3278:0.1272:0.4159:0.129	.	1145	Q9HCF4	ALO17_HUMAN	D	1145;1194;1145	.	ENSP00000396478:E1194D	E	+	3	2	RNF213	75916790	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.722000	0.00194	-6.687000	0.00003	-1.069000	0.02264	GAG	.		0.418	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78302195	G	T	78302195	3	4	12	1	0	0	0	0	1	0	0	0	13522	991	35	3	3828	3	RNF213	17	78302195	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	11424891	78302195	2893015	139	1729											
LAMA3	3909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	21437935	21437935	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr18:21437935G>C	ENST00000313654.9	+	33	4505	c.4264G>C	c.(4264-4266)Ggg>Cgg	p.G1422R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1422R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1422	Domain III B.|Laminin EGF-like 12. {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)					CCCAGGGACCGGGGCTTGCCT	0.527																																					p.G1422R		.											LAMA3,NS,carcinoma,0,3	LAMA3	0	0			c.G4264C						.						97	97	97					18																	21437935		2033	4180	6213	SO:0001583	missense	3909	exon33			GGGACCGGGGCTT	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.4264G>C	18.37:g.21437935G>C	ENSP00000324532:p.Gly1422Arg	61	0		22	8	NM_001127717	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562706	0.86335	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.75821	-0.97;-0.97	5.43	5.43	0.79202	EGF-like, laminin (3);	.	.	.	.	D	0.90906	0.7142	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.93103	0.6510	9	0.87932	D	0	.	19.6064	0.95583	0.0:0.0:1.0:0.0	.	1422;1422	Q6VU67;Q16787	.;LAMA3_HUMAN	R	1422;1422;1420	ENSP00000324532:G1422R;ENSP00000382432:G1422R	ENSP00000324532:G1422R	G	+	1	0	LAMA3	19691933	1.000000	0.71417	0.529000	0.27951	0.839000	0.47603	7.352000	0.79404	2.710000	0.92621	0.561000	0.74099	GGG	.		0.527	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		C	21437935	G	C	21437935	3	2	12	1	0	0	0	0	1	0	0	0	8635	1116	39	5	4394	5	LAMA3	18	21437935	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		21437935	56639313	140	1730											
PLIN4	729359	hgsc.bcm.edu	37	19	4511680	4511680	+	Silent	SNP	A	A	G			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr19:4511680A>G	ENST00000301286.3	-	3	2249	c.2250T>C	c.(2248-2250)gaT>gaC	p.D750D		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	750	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						TGGACACAGCATCTTTAGTGC	0.577																																					p.D750D		.											PLIN4_ENST00000301286,right_lower_lobe,carcinoma,0,2	PLIN4_ENST00000301286	0	0			c.T2250C						.						120	88	98					19																	4511680		2000	4144	6144	SO:0001819	synonymous_variant	729359	exon3			CACAGCATCTTTA	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.2250T>C	19.37:g.4511680A>G		35	0		16	8	NM_001080400	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																			.		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4511680	A	G	4511680	2	3	12	1	0	0	0	0	0	0	0	1	12131	214	8	4		4	PLIN4	19	4511680	Silent	SNP	A	TCGA-W5-AA2Q-01A-11D-A417-09		4511680	54617303	141	1731											
C3	718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	6678260	6678260	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr19:6678260T>C	ENST00000245907.6	-	40	4845	c.4753A>G	c.(4753-4755)Atc>Gtc	p.I1585V	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1585	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)	ATGGGGCTGATGAACGTGCGC	0.592																																					p.I1585V		.											.	.	.	0			c.A4753G						.						88	68	75					19																	6678260		2203	4300	6503	SO:0001583	missense	718	exon40			GGCTGATGAACGT	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.4753A>G	19.37:g.6678260T>C	ENSP00000245907:p.Ile1585Val	36	0		18	8	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897148	0.33535	.	.	ENSG00000125730	ENST00000245907	T	0.19669	2.13	5.24	5.24	0.73138	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	1.336540	0.05531	U	0.563937	T	0.34424	0.0897	L	0.59436	1.845	0.32119	N	0.588317	B;P	0.36412	0.352;0.552	P;B	0.45474	0.482;0.388	T	0.16217	-1.0410	10	0.20519	T	0.43	.	13.112	0.59278	0.0:0.0:0.0:1.0	.	1585;1020	P01024;B4E216	CO3_HUMAN;.	V	1585	ENSP00000245907:I1585V	ENSP00000245907:I1585V	I	-	1	0	C3	6629260	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	2.438000	0.44837	1.993000	0.58246	0.373000	0.22412	ATC	.		0.592	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		C	6678260	T	C	6678260	3	2	12	1	0	0	0	0	1	0	0	0	2211	1464	51	4	246	4	C3	19	6678260	Missense_Mutation	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	2166580	6678260	52450723	142	1732											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	9068625	9068625	+	Frame_Shift_Del	DEL	C	C	-	rs200874005		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr19:9068625delC	ENST00000397910.4	-	3	19024	c.18821delG	c.(18820-18822)cgtfs	p.R6274fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6276	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.R6274L(2)|p.R1907L(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						TTGAGGTGAACGAGTCACAGG	0.483																																					p.R6274fs		.											.	.	.	3	Substitution - Missense(3)	lung(3)	c.18822delT						.						170	163	166					19																	9068625		2030	4172	6202	SO:0001589	frameshift_variant	94025	exon3			GGTGAACGAGTCA	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.18821delG	19.37:g.9068625delC	ENSP00000381008:p.Arg6274fs	48	0		43	16	NM_024690	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9068625	C	-	9068625	7	5	12	1	0	1	0	1	0	0	0	0	10011	536	19	0	25030	0	MUC16	19	9068625	Frame_Shift_Del	DEL	C	TCGA-W5-AA2Q-01A-11D-A417-09	2390365	9068625	50060358	143	1733											
ZNF317	57693	hgsc.bcm.edu	37	19	9271878	9271878	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr19:9271878G>T	ENST00000247956.6	+	7	1862	c.1557G>T	c.(1555-1557)acG>acT	p.T519T	ZNF317_ENST00000360385.3_Silent_p.T487T	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T519T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CGCTGAAGACGCACATGCGAA	0.547																																					p.T519T		.											ZNF317,colon,carcinoma,0,1	ZNF317	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G1557T						.						88	73	78					19																	9271878		2203	4300	6503	SO:0001819	synonymous_variant	57693	exon7			GAAGACGCACATG	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.1557G>T	19.37:g.9271878G>T		35	0		21	2	NM_020933	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	CCDS12210.1																																																																																			.		0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		T	9271878	G	T	9271878	2	4	12	1	0	0	0	0	0	0	0	1	17883	1074	38	2		2	ZNF317	19	9271878	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	203253	9271878	49857105	144	1734											
LDLR	3949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	11230846	11230846	+	Silent	SNP	T	T	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr19:11230846T>C	ENST00000558518.1	+	13	2111	c.1924T>C	c.(1924-1926)Ttg>Ctg	p.L642L	LDLR_ENST00000545707.1_Silent_p.L515L|LDLR_ENST00000557933.1_Silent_p.L642L|LDLR_ENST00000455727.2_Silent_p.L474L|LDLR_ENST00000558013.1_Silent_p.L642L|LDLR_ENST00000535915.1_Silent_p.L601L	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	642					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)	TGTCAACTTGTTGGCTGAAAA	0.502																																					p.L642L	GBM(18;201 575 7820 21545)	.											.	.	.	1	Unknown(1)	lung(1)	c.T1924C						.						129	102	111					19																	11230846		2203	4300	6503	SO:0001819	synonymous_variant	3949	exon13			AACTTGTTGGCTG	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.1924T>C	19.37:g.11230846T>C		68	0		44	23	NM_001195798	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	CCDS12254.1																																																																																			.		0.502	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			C	11230846	T	C	11230846	2	2	12	1	0	0	0	0	0	0	0	1	8732	1722	60	4		4	LDLR	19	11230846	Silent	SNP	T	TCGA-W5-AA2Q-01A-11D-A417-09	1958968	11230846	47898137	145	1735											
SIGLEC10	89790	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	51918278	51918278	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr19:51918278G>C	ENST00000339313.5	-	8	1531	c.1415C>G	c.(1414-1416)cCc>cGc	p.P472R	SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.P472R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.P414R|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000436984.2_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	472					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)		GCGCAGAGAGGGGGCCGGGCT	0.706																																					p.P472R		.											.	.	.	0			c.C1415G						.						10	12	12					19																	51918278		2177	4257	6434	SO:0001583	missense	89790	exon8			AGAGAGGGGGCCG	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.1415C>G	19.37:g.51918278G>C	ENSP00000345243:p.Pro472Arg	64	0		39	17	NM_033130	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.972289	0.34754	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.87809	-2.3;-2.3;-2.3	4.83	4.83	0.62350	.	0.229124	0.31519	N	0.007513	D	0.94374	0.8191	M	0.91300	3.195	0.22081	N	0.999371	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.88564	0.3125	10	0.87932	D	0	.	13.417	0.60974	0.0:0.0:1.0:0.0	.	414;472	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	R	472;414;472	ENSP00000348646:P472R;ENSP00000389132:P414R;ENSP00000345243:P472R	ENSP00000345243:P472R	P	-	2	0	SIGLEC10	56610090	0.878000	0.30173	0.849000	0.33467	0.004000	0.04260	4.523000	0.60545	2.235000	0.73313	0.561000	0.74099	CCC	.		0.706	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		C	51918278	G	C	51918278	3	2	12	1	0	0	0	0	1	0	0	0	14351	1232	43	5	694	5	SIGLEC10	19	51918278	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	40687432	51918278	7210705	146	1736											
TGIF2	60436	hgsc.bcm.edu	37	20	35219439	35219439	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr20:35219439C>A	ENST00000373874.2	+	3	518	c.319C>A	c.(319-321)Cgt>Agt	p.R107S	TGIF2_ENST00000373872.4_Missense_Mutation_p.R107S|TGIF2-C20orf24_ENST00000558530.1_Intron|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	107	Repressive function.				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)				GGCCCTCCCCCGTGGCAGCAG	0.632																																					p.R107S		.											.	.	.	0			c.C319A						.						75	86	82					20																	35219439		2203	4300	6503	SO:0001583	missense	60436	exon3			CTCCCCCGTGGCA	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.319C>A	20.37:g.35219439C>A	ENSP00000362981:p.Arg107Ser	126	0		69	4	NM_021809	B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346796	0.41599	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.64803	-0.12;-0.12	5.71	4.74	0.60224	.	1.045190	0.07463	N	0.900930	T	0.57110	0.2031	L	0.46157	1.445	0.80722	D	1	B	0.23591	0.088	B	0.18561	0.022	T	0.33343	-0.9872	10	0.12430	T	0.62	-17.1341	14.7398	0.69445	0.15:0.85:0.0:0.0	.	107	Q9GZN2	TGIF2_HUMAN	S	107	ENSP00000362981:R107S;ENSP00000362979:R107S	ENSP00000362979:R107S	R	+	1	0	TGIF2	34652853	0.690000	0.27699	0.999000	0.59377	0.996000	0.88848	2.636000	0.46545	1.350000	0.45770	0.561000	0.74099	CGT	.		0.632	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		A	35219439	C	A	35219439	3	1	12	1	0	0	0	0	1	0	0	0	15873	652	23	2	325	2	TGIF2	20	35219439	Missense_Mutation	SNP	C	TCGA-W5-AA2Q-01A-11D-A417-09		35219439	27806081	147	1737											
C20orf117	140710	hgsc.bcm.edu	37	20	35445812	35445812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr20:35445812G>A	ENST00000357779.3	-	4	744	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000279034.6_Nonsense_Mutation_p.Q140*|SOGA1_ENST00000237536.4_Nonsense_Mutation_p.Q378*			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	140					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						GGAATTACCTGCACCAAAGTC	0.478																																					p.Q378X		.											.	.	.	0			c.C1132T						.						41	41	41					20																	35445812		1819	4071	5890	SO:0001587	stop_gained	140710	exon4			TTACCTGCACCAA	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.418C>T	20.37:g.35445812G>A	ENSP00000350424:p.Gln140*	67	0		54	4	NM_080627	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Nonsense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	G	37	6.207262	0.97376	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000357779	.	.	.	5.14	5.14	0.70334	.	0.117096	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-44.6348	15.9874	0.80168	0.0:0.0:1.0:0.0	.	.	.	.	X	378;140;140	.	ENSP00000237536:Q378X	Q	-	1	0	KIAA0889	34879226	1.000000	0.71417	0.971000	0.41717	0.050000	0.14768	7.779000	0.85648	2.837000	0.97791	0.655000	0.94253	CAG	.		0.478	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		A	35445812	G	A	35445812	4	1	12	1	0	0	0	0	0	1	0	0	2090	1328	46	3	3963	3	C20orf117	20	35445812	Nonsense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	226373	35445812	27579708	148	1738											
ZFP64	55734	broad.mit.edu	37	20	50701719	50701719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr20:50701719delC	ENST00000361387.2	-	9	1375	c.1315delG	c.(1315-1317)gagfs	p.E439fs	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Frame_Shift_Del_p.E220fs	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	396					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGGCTTCTCCCCCGAGTGC	0.537																																					p.E439fs													.	ZFP64	240	0			c.1315delG						.						59	52	54					20																	50701719		2203	4300	6503	SO:0001589	frameshift_variant	55734	exon9			GCTTCTCCCCCGA	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1315delG	20.37:g.50701719delC	ENSP00000355179:p.Glu439fs	14	0		6	2	NM_199427	Q9NTS7|Q9NVH4	Frame_Shift_Del	DEL	ENST00000361387.2	37	CCDS13439.1																																																																																			.		0.537	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		-	50701719	C	-	50701719	7	5	12	1	0	1	0	1	0	0	0	0	17700	864	30	0	626	0	ZFP64	20	50701719	Frame_Shift_Del	DEL	C	TCGA-W5-AA2Q-01A-11D-A417-09	15255907	50701719	12323801	149	1739											
BIRC7	79444	hgsc.bcm.edu	37	20	61870741	61870741	+	Silent	SNP	G	G	T	rs373757098		TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr20:61870741G>T	ENST00000217169.3	+	6	895	c.681G>T	c.(679-681)gcG>gcT	p.A227A	MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000342412.6_Intron|NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000395306.1_Intron	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	227					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)					CCCAGAGGGCGTGGTGGGTTC	0.687																																					p.A227A		.											BIRC7,right_upper_lobe,carcinoma,0,1	BIRC7	0	0			c.G681T						.						49	55	53					20																	61870741		2203	4299	6502	SO:0001819	synonymous_variant	79444	exon6			GAGGGCGTGGTGG	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.681G>T	20.37:g.61870741G>T		80	0		58	3	NM_139317	Q9BQV0|Q9H2A8|Q9HAP7	Silent	SNP	ENST00000217169.3	37	CCDS13513.1																																																																																			.		0.687	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		T	61870741	G	T	61870741	2	4	12	1	0	0	0	0	0	0	0	1	1441	1132	40	2		2	BIRC7	20	61870741	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	11169022	61870741	1154779	150	1740											
OPRL1	4987	hgsc.bcm.edu	37	20	62724277	62724277	+	Silent	SNP	G	G	C			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr20:62724277G>C	ENST00000349451.3	+	4	616	c.204G>C	c.(202-204)ggG>ggC	p.G68G	OPRL1_ENST00000336866.2_Silent_p.G68G|OPRL1_ENST00000355631.4_Silent_p.G68G	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	68					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)	p.G68G(1)		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)					GGCTCCTGGGGAACTGCCTTG	0.637																																					p.G68G		.											OPRL1,colon,carcinoma,0,1	OPRL1	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G204C						.						80	70	73					20																	62724277		2199	4291	6490	SO:0001819	synonymous_variant	4987	exon2			CCTGGGGAACTGC		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.204G>C	20.37:g.62724277G>C		74	0		45	2	NM_000913	Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1																																																																																			.		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		C	62724277	G	C	62724277	2	2	12	1	0	0	0	0	0	0	0	1	10925	1161	41	5		5	OPRL1	20	62724277	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	853536	62724277	301243	151	1741											
YPEL1	29799	ucsc.edu;bcgsc.ca	37	22	22064926	22064926	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr22:22064926G>T	ENST00000339468.3	-	2	491	c.108C>A	c.(106-108)ctC>ctA	p.L36L	YPEL1_ENST00000403503.1_Silent_p.L36L	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	36						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CCTTGGAGATGAGCTCGTCAT	0.438																																					p.L36L													YPEL1,rectum,carcinoma,-1,1	YPEL1	6	0			c.C108A						.						309	262	278					22																	22064926		2203	4300	6503	SO:0001819	synonymous_variant	29799	exon2			GGAGATGAGCTCG	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	ENST00000339468.3:c.108C>A	22.37:g.22064926G>T		76	0		42	4	NM_013313	Q65ZA1|Q6GLI6	Silent	SNP	ENST00000339468.3	37	CCDS13794.1																																																																																			.		0.438	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		T	22064926	G	T	22064926	2	4	12	1	0	0	0	0	0	0	0	1	17538	1277	45	3		3	YPEL1	22	22064926	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		22064926	29239640	152	1742											
NF2	4771	hgsc.bcm.edu	37	22	30054254	30054254	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr22:30054254G>T	ENST00000338641.4	+	7	1116		c.e7+1		NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(18)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGCAATCCGGGTGTGTTGAAA	0.478			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																												.		.	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	NF2_ENST00000403999,colon,carcinoma,0,13	NF2_ENST00000403999	0	18	Unknown(18)	meninges(10)|soft_tissue(4)|central_nervous_system(2)|large_intestine(1)|stomach(1)	c.675+1G>T	GRCh37	CS951488	NF2	S		.						183	143	157					22																	30054254		2203	4300	6503	SO:0001630	splice_region_variant	4771	exon7	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	ATCCGGGTGTGTT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.675+1G>T	22.37:g.30054254G>T		78	0		45	2	NM_016418	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162683	0.57368	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.75	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7764	0.85551	0.0:0.1291:0.8709:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28384254	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	9.771000	0.98977	1.403000	0.46800	-0.302000	0.09304	.	.		0.478	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	T	30054254	G	T	30054254	5	4	12	1	0	0	0	0	0	0	1	0	10396	1275	44	3	702	3	NF2	22	30054254	Splice_Site	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	7989328	30054254	21250312	153	1743											
BRD1	23774	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	50197977	50197977	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chr22:50197977G>T	ENST00000216267.8	-	2	1885	c.1399C>A	c.(1399-1401)Cag>Aag	p.Q467K	BRD1_ENST00000404760.1_Missense_Mutation_p.Q467K|BRD1_ENST00000457780.2_Missense_Mutation_p.Q467K|BRD1_ENST00000342989.5_Missense_Mutation_p.Q62K|BRD1_ENST00000404034.1_Missense_Mutation_p.Q467K|BRD1_ENST00000542442.1_Missense_Mutation_p.Q160K	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	467					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)		TTCTTCCGCTGAATGGCCACC	0.507																																					p.Q467K		.											.	.	.	0			c.C1399A						.						82	85	84					22																	50197977		2203	4300	6503	SO:0001583	missense	23774	exon2			TCCGCTGAATGGC	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.1399C>A	22.37:g.50197977G>T	ENSP00000216267:p.Gln467Lys	54	0		37	4	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833782	0.91036	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	T;T;T;T;T;T	0.40756	2.59;2.59;2.52;2.35;1.02;1.02	5.05	5.05	0.67936	.	0.113551	0.64402	D	0.000008	T	0.52725	0.1752	M	0.64997	1.995	0.80722	D	1	P;P;P;D	0.55385	0.952;0.745;0.917;0.971	B;B;B;P	0.50109	0.427;0.445;0.207;0.631	T	0.56745	-0.7928	10	0.52906	T	0.07	.	18.3901	0.90479	0.0:0.0:1.0:0.0	.	467;62;467;467	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	K	467;467;467;467;160;62	ENSP00000216267:Q467K;ENSP00000384076:Q467K;ENSP00000385858:Q467K;ENSP00000410042:Q467K;ENSP00000437514:Q160K;ENSP00000345886:Q62K	ENSP00000216267:Q467K	Q	-	1	0	BRD1	48583981	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.574000	0.98184	2.366000	0.80165	0.655000	0.94253	CAG	.		0.507	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		T	50197977	G	T	50197977	3	4	12	1	0	0	0	0	1	0	0	0	1505	1299	45	3	1821	3	BRD1	22	50197977	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	20143723	50197977	1106589	154	1744											
SH3KBP1	30011	bcgsc.ca	37	X	19725065	19725065	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chrX:19725065G>T	ENST00000397821.3	-	4	614	c.324C>A	c.(322-324)agC>agA	p.S108R	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.S71R|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.S108R	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	108	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGGGCAGGTAGCTGAATGCCA	0.537																																					p.S108R													.	SH3KBP1	96	0			c.C324A						.						87	70	76					X																	19725065		2203	4300	6503	SO:0001583	missense	30011	exon4			CAGGTAGCTGAAT	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.324C>A	X.37:g.19725065G>T	ENSP00000380921:p.Ser108Arg	40	0		16	3	NM_031892	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	g	18.41	3.617585	0.66787	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.92	4.88	0.63580	Src homology-3 domain (3);Variant SH3 (1);	0.560040	0.22692	N	0.056806	T	0.57140	0.2033	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	T	0.54788	-0.8241	10	0.44086	T	0.13	-14.1078	10.0213	0.42044	0.1763:0.0:0.8237:0.0	.	108;71	Q96B97;Q5JPT5	SH3K1_HUMAN;.	R	49;108;16;71;44;108;55;16	ENSP00000380921:S108R;ENSP00000369020:S71R;ENSP00000369049:S44R;ENSP00000369019:S108R;ENSP00000388766:S55R;ENSP00000409292:S16R	ENSP00000369019:S108R	S	-	3	2	SH3KBP1	19634986	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.056000	0.41355	2.491000	0.84063	0.597000	0.82753	AGC	.		0.537	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		T	19725065	G	T	19725065	3	4	12	1	0	0	0	0	1	0	0	0	14300	962	34	3	1749	3	SH3KBP1	23	19725065	Missense_Mutation	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09		19725065	135545495	155	1745											
SLC7A3	84889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	70149683	70149683	+	Silent	SNP	G	G	T			TCGA-W5-AA2Q-01A-11D-A417-09	TCGA-W5-AA2Q-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dd6f3b9d-7920-4d6f-9409-3875cdc98529	129f8032-36f2-4e17-8be5-861814b73983	g.chrX:70149683G>T	ENST00000374299.3	-	2	309	c.165C>A	c.(163-165)ggC>ggA	p.G55G	SLC7A3_ENST00000298085.4_Silent_p.G55G			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	55					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)	TGGCCACCTCGCCAGCTAGGA	0.572																																					p.G55G		.											.	.	.	0			c.C165A						.						118	75	90					X																	70149683		2203	4300	6503	SO:0001819	synonymous_variant	84889	exon2			CACCTCGCCAGCT	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.165C>A	X.37:g.70149683G>T		36	0		13	13	NM_032803	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	CCDS14404.1																																																																																			.		0.572	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		T	70149683	G	T	70149683	2	4	12	1	0	0	0	0	0	0	0	1	14743	1074	38	2		2	SLC7A3	23	70149683	Silent	SNP	G	TCGA-W5-AA2Q-01A-11D-A417-09	50424618	70149683	85120877	156	1746											
MMEL1	79258	hgsc.bcm.edu	37	1	2540788	2540788	+	Silent	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:2540788G>A	ENST00000378412.3	-	6	686	c.525C>T	c.(523-525)tgC>tgT	p.C175C	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Silent_p.C166C			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	175						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)		TCTGGTTCATGCAGGAGCGGT	0.692																																					p.C175C		.											MMEL1,colon,carcinoma,0,1	MMEL1	0	0			c.C525T						.						31	24	26					1																	2540788		2202	4299	6501	SO:0001819	synonymous_variant	79258	exon6			GTTCATGCAGGAG	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.525C>T	1.37:g.2540788G>A		45	0		27	2	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2																																																																																			.		0.692	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2540788	G	A	2540788	2	1	13	1	0	0	0	0	0	0	0	1	9684	1311	46	3		3	MMEL1	1	2540788	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		2540788	246709833	1	1747											
LEPROT	54741	bcgsc.ca	37	1	65895660	65895660	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:65895660G>A	ENST00000371065.4	+	3	346	c.208G>A	c.(208-210)Gca>Aca	p.A70T	LEPR_ENST00000371059.3_Intron|LEPR_ENST00000371060.3_Intron|LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	70					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)			kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCGGGAACTGGCATATTTCTT	0.443																																					p.A79T													.	LEPROT	16	0			c.G235A						.						362	343	349					1																	65895660		2203	4300	6503	SO:0001583	missense	54741	exon4			GAACTGGCATATT	Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"leptin receptor gene related protein"	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.208G>A	1.37:g.65895660G>A	ENSP00000360104:p.Ala70Thr	85	0		84	4	NM_001198681	Q6FHL5	Missense_Mutation	SNP	ENST00000371065.4	37	CCDS630.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230795	0.95207	.	.	ENSG00000213625	ENST00000371065	.	.	.	5.75	4.83	0.62350	.	0.000000	0.85682	U	0.000000	T	0.58793	0.2147	M	0.75264	2.295	0.80722	D	1	P	0.38300	0.626	B	0.42625	0.393	T	0.67515	-0.5651	9	0.87932	D	0	-1.0354	16.2919	0.82756	0.0:0.0:0.8667:0.1333	.	70	O15243	OBRG_HUMAN	T	70	.	ENSP00000360104:A70T	A	+	1	0	LEPROT	65668248	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.639000	0.83342	1.412000	0.46977	0.557000	0.71058	GCA	.		0.443	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526		A	65895660	G	A	65895660	3	1	13	1	0	0	0	0	1	0	0	0	8760	1203	42	3	218	3	LEPROT	1	65895660	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	63354872	65895660	183354961	2	1748											
EVI5	7813	hgsc.bcm.edu	37	1	93089878	93089878	+	Missense_Mutation	SNP	C	C	T	rs201423013		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:93089878C>T	ENST00000370331.1	-	14	1643	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	EVI5_ENST00000540033.1_Missense_Mutation_p.R545H|EVI5_ENST00000543509.1_Missense_Mutation_p.R556H|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	545	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				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)	p.R545H(1)		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)		CCCAGTAGTACGAGCTAAGTG	0.383																																					p.R545H		.											EVI5,NS,carcinoma,0,1	EVI5	0	1	Substitution - Missense(1)	endometrium(1)	c.G1634A						.						103	88	93					1																	93089878		2203	4300	6503	SO:0001583	missense	7813	exon14			GTAGTACGAGCTA	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.1634G>A	1.37:g.93089878C>T	ENSP00000359356:p.Arg545His	49	1		30	2	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938011	0.92526	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	T;T;T	0.40476	1.03;1.03;1.03	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.55213	1.73	0.80722	D	1	D;P	0.53619	0.961;0.884	P;P	0.58077	0.832;0.684	T	0.44375	-0.9332	10	0.51188	T	0.08	-2.2735	19.6894	0.95993	0.0:1.0:0.0:0.0	.	556;545	F5H4R0;O60447	.;EVI5_HUMAN	H	545;545;556;244	ENSP00000359356:R545H;ENSP00000440826:R545H;ENSP00000445019:R556H	ENSP00000345500:R244H	R	-	2	0	EVI5	92862466	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.197000	0.77814	2.651000	0.90000	0.655000	0.94253	CGT	.		0.383	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		T	93089878	C	T	93089878	3	4	13	1	0	0	0	0	1	0	0	0	5305	536	19	1	818	1	EVI5	1	93089878	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	27194218	93089878	156160743	3	1749											
SASS6	163786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	100573425	100573425	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:100573425C>A	ENST00000287482.5	-	9	1137	c.997G>T	c.(997-999)Gat>Tat	p.D333Y	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.D166Y	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	333					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TGGTCCTTATCCTTGATTTCC	0.343																																					p.D333Y		.											.	.	.	0			c.G997T						.						112	110	110					1																	100573425		2203	4300	6503	SO:0001583	missense	163786	exon9			CCTTATCCTTGAT	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.997G>T	1.37:g.100573425C>A	ENSP00000287482:p.Asp333Tyr	39	0		30	8	NM_194292	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580140	0.86645	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.77877	2.26;-1.13	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88492	0.3076	10	0.87932	D	0	-24.4594	20.1813	0.98205	0.0:1.0:0.0:0.0	.	333	Q6UVJ0	SAS6_HUMAN	Y	333;306;166	ENSP00000287482:D333Y;ENSP00000440169:D166Y	ENSP00000287482:D333Y	D	-	1	0	SASS6	100346013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.291000	0.78721	2.763000	0.94921	0.585000	0.79938	GAT	.		0.343	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		A	100573425	C	A	100573425	3	1	13	1	0	0	0	0	1	0	0	0	13895	855	30	3	1012	3	SASS6	1	100573425	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	7483547	100573425	148677196	4	1750											
OLFM3	118427	broad.mit.edu	37	1	102269800	102269800	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:102269800G>T	ENST00000338858.5	-	6	1430	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.D457E|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	477					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)		TTGCCTATGTGTCATCCTCTG	0.383																																					p.D457E													.	OLFM3	178	0			c.C1371A						.						95	90	92					1																	102269800		2203	4300	6503	SO:0001583	missense	118427	exon6			CTATGTGTCATCC	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.1431C>A	1.37:g.102269800G>T	ENSP00000345192:p.Asp477Glu	48	0		38	3	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	G	9.567	1.119915	0.20877	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.89415	-2.45;-2.51	5.47	4.55	0.56014	.	0.045537	0.85682	D	0.000000	T	0.62097	0.2400	N	0.04043	-0.29	0.80722	D	1	B;B	0.15719	0.014;0.002	B;B	0.12156	0.007;0.003	T	0.62685	-0.6802	10	0.40728	T	0.16	.	8.8722	0.35323	0.2249:0.0:0.7751:0.0	.	457;477	Q5T3V6;Q96PB7	.;NOE3_HUMAN	E	457;477	ENSP00000359121:D457E;ENSP00000345192:D477E	ENSP00000345192:D477E	D	-	3	2	OLFM3	102042388	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.917000	0.28665	1.437000	0.47472	0.650000	0.86243	GAC	.		0.383	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			T	102269800	G	T	102269800	3	4	13	1	0	0	0	0	1	0	0	0	10893	1368	48	3	9	3	OLFM3	1	102269800	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	1696375	102269800	146980821	5	1751											
DRAM2	128338	broad.mit.edu;ucsc.edu	37	1	111663216	111663216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:111663216G>A	ENST00000286692.4	-	6	1056	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	DRAM2_ENST00000539140.1_Nonsense_Mutation_p.Q147*|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	147					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						ATTTTGGGCTGCATTTGGTAG	0.428																																					p.Q147X													.	DRAM2	19	0			c.C439T						.						126	109	115					1																	111663216		2203	4299	6502	SO:0001587	stop_gained	128338	exon6			TGGGCTGCATTTG	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"transmembrane protein 77"	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.439C>T	1.37:g.111663216G>A	ENSP00000286692:p.Gln147*	54	0		32	4	NM_178454	B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Nonsense_Mutation	SNP	ENST00000286692.4	37	CCDS30801.1	.	.	.	.	.	.	.	.	.	.	G	39	7.329627	0.98214	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-3.5612	15.7886	0.78332	0.0:0.0:1.0:0.0	.	.	.	.	X	147	.	ENSP00000286692:Q147X	Q	-	1	0	DRAM2	111464739	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.352000	0.79404	2.873000	0.98535	0.563000	0.77884	CAG	.		0.428	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454		A	111663216	G	A	111663216	4	1	13	1	0	0	0	0	0	1	0	0	4768	1328	46	3	377	3	DRAM2	1	111663216	Nonsense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	9393416	111663216	137587405	6	1752											
LCE4A	199834	hgsc.bcm.edu	37	1	152681679	152681680	+	Missense_Mutation	DNP	CC	CC	GT	rs6143428|rs11269814|rs200890315	byFrequency	TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	CC	CC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:152681679_152681680CC>GT	ENST00000368777.1	+	2	384_385	c.128_129CC>GT	c.(127-129)tCC>tGT	p.S43C	LCE4A_ENST00000335535.3_Missense_Mutation_p.S43C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	43	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			TGCTGTGGCTCCAGCTCTGGGG	0.599																																					p.S43C		.											LCE4A,rectum,carcinoma,+1,15	LCE4A	1	0			c.C129T						.																																			SO:0001583	missense	199834	exon1			TGGCTCCAGCTCT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681679_152681680delinsGT	ENSP00000357766:p.Ser43Cys	32	2		36	0	NM_178356	Q14D97	Missense_Mutation	DNP	ENST00000368777.1	37	CCDS1022.1																																																																																			.		0.599	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		GT	152681680	CC	GT	152681679	3	3	13	1	0	0	0	0	1	0	0	0	8702	855	30	5	130	5	LCE4A	1	152681679	Missense_Mutation	DNP	CC	TCGA-W5-AA2R-01A-11D-A417-09	41018463	152681679	96568942	7	1753											
CREB3L4	148327	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	153946097	153946099	+	Splice_Site	DEL	TTC	TTC	-			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:153946097_153946099delTTC	ENST00000368607.3	+	9	1165_1167	c.899_901delTTC	c.(898-903)attctt>att	p.L302del	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Splice_Site_p.L302del|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000368603.1_Splice_Site_p.L302del|CREB3L4_ENST00000405694.3_Splice_Site_p.L155del|CREB3L4_ENST00000368600.3_Splice_Site_p.L282del	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	302					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCTCCCAGATTCTTCTTTTTTC	0.557																																					p.300_300del		.											.	.	.	0			c.898_900del						.			0,4260		0,0,2130						4.9	1			30	12,8242		4,4,4119	no	coding-near-splice	CREB3L4	NM_130898.2		4,4,6249	A1A1,A1R,RR		0.1454,0.0,0.0959				12,12502				SO:0001630	splice_region_variant	148327	exon9			CCCAGATTCTTCT	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.898-1TTC>-	1.37:g.153946100_153946102delTTC		29	0		35	11	NM_001255979	D3DV62|Q5T4L0|Q86YW6	In_Frame_Del	DEL	ENST00000368607.3	37	CCDS1056.1																																																																																			.		0.557	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898	In_Frame_Del	-	153946099	TTC	-	153946097	8	5	13	1	0	1	0	1	0	0	1	0	3866	1507	52	0	929	0	CREB3L4	1	153946097	Splice_Site	DEL	TTC	TCGA-W5-AA2R-01A-11D-A417-09	1264418	153946097	95304524	8	1754											
NUP210L	91181	hgsc.bcm.edu	37	1	153994676	153994676	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:153994676G>A	ENST00000368559.3	-	32	4513	c.4442C>T	c.(4441-4443)gCc>gTc	p.A1481V	NUP210L_ENST00000271854.3_Missense_Mutation_p.A1481V|NUP210L_ENST00000368553.1_Missense_Mutation_p.A414V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1481					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGCTCAATGGCATGCTCTAC	0.493																																					p.A1481V		.											NUP210L,NS,carcinoma,0,1	NUP210L	0	0			c.C4442T						.						137	136	136					1																	153994676		2038	4193	6231	SO:0001583	missense	91181	exon32			TCAATGGCATGCT	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4442C>T	1.37:g.153994676G>A	ENSP00000357547:p.Ala1481Val	51	0		59	3	NM_001159484	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972242	0.92919	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23147	3.49;1.92;3.22	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000003	T	0.31606	0.0802	L	0.34521	1.04	0.51233	D	0.999913	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.00885	-1.1527	10	0.27785	T	0.31	-13.1298	18.4451	0.90681	0.0:0.0:1.0:0.0	.	1481;1481	E7EP56;Q5VU65	.;P210L_HUMAN	V	1481;414;1481	ENSP00000357547:A1481V;ENSP00000357541:A414V;ENSP00000271854:A1481V	ENSP00000271854:A1481V	A	-	2	0	NUP210L	152261300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.622000	0.61240	2.894000	0.99253	0.591000	0.81541	GCC	.		0.493	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	153994676	G	A	153994676	3	1	13	1	0	0	0	0	1	0	0	0	10800	1203	42	3	1260	3	NUP210L	1	153994676	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	48579	153994676	95255945	9	1755											
AQP10	89872	hgsc.bcm.edu	37	1	154296076	154296076	+	Silent	SNP	T	T	G	rs1194610	byFrequency	TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:154296076T>G	ENST00000324978.3	+	5	541	c.501T>G	c.(499-501)acT>acG	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																																					p.T167T		.											AQP10,NS,carcinoma,0,1	AQP10	0	1	Substitution - coding silent(1)	stomach(1)	c.T501G						.						126	135	132					1																	154296076		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>G	1.37:g.154296076T>G		51	0		49	2	NM_080429	Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	CCDS1065.1																																																																																			.		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		G	154296076	T	G	154296076	2	3	13	1	0	0	0	0	0	0	0	1	822	1567	55	4		4	AQP10	1	154296076	Silent	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	301400	154296076	94954545	10	1756											
KCNJ9	3765	hgsc.bcm.edu	37	1	160057420	160057420	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:160057420C>T	ENST00000368088.3	+	3	1237	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	332					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.S332*(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCACACCTTCGTGCAGTGCT	0.617																																					p.S332L		.											KCNJ9,rectum,carcinoma,0,1	KCNJ9	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.C995T						.						65	60	62					1																	160057420		2203	4300	6503	SO:0001583	missense	3765	exon3			CACCTTCGTGCAG	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.995C>T	1.37:g.160057420C>T	ENSP00000357067:p.Ser332Leu	21	0		37	2	NM_004983	Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	c	3.258	-0.151870	0.06585	.	.	ENSG00000162728	ENST00000368088	D	0.93763	-3.28	4.21	4.21	0.49690	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.076672	0.53938	D	0.000054	T	0.72534	0.3472	N	0.17723	0.515	0.09310	N	1	P	0.46064	0.872	B	0.35688	0.208	T	0.69709	-0.5072	10	0.09084	T	0.74	.	10.9489	0.47317	0.0:0.6688:0.3312:0.0	.	332	Q92806	IRK9_HUMAN	L	332	ENSP00000357067:S332L	ENSP00000357067:S332L	S	+	2	0	KCNJ9	158324044	0.000000	0.05858	0.871000	0.34182	0.907000	0.53573	0.407000	0.21049	1.909000	0.55274	0.550000	0.68814	TCG	.		0.617	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		T	160057420	C	T	160057420	3	4	13	1	0	0	0	0	1	0	0	0	8084	893	31	1	1001	1	KCNJ9	1	160057420	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	5761344	160057420	89193201	11	1757											
ATF6	22926	hgsc.bcm.edu;bcgsc.ca	37	1	161816251	161816251	+	Silent	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:161816251G>A	ENST00000367942.3	+	10	1267	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	400					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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGTTGGAACAGGATTCCAGGA	0.398																																					p.Q400Q		.											.	.	.	0			c.G1200A						.						89	88	88					1																	161816251		2203	4300	6503	SO:0001819	synonymous_variant	22926	exon10			GGAACAGGATTCC	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1200G>A	1.37:g.161816251G>A		40	0		61	4	NM_007348	O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	CCDS1235.1																																																																																			.		0.398	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		A	161816251	G	A	161816251	2	1	13	1	0	0	0	0	0	0	0	1	1085	991	35	3		3	ATF6	1	161816251	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	1758831	161816251	87434370	12	1758											
IL24	11009	hgsc.bcm.edu	37	1	207076334	207076334	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:207076334C>T	ENST00000294984.2	+	7	825	c.551C>T	c.(550-552)gCa>gTa	p.A184V	IL24_ENST00000367093.3_Missense_Mutation_p.A132V|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.A185V|FAIM3_ENST00000528654.1_5'Flank	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	184					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|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)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GACGTAGAAGCAGCTCTGACC	0.488																																					p.A185V		.											.	.	.	0			c.C554T						.						229	226	227					1																	207076334		2203	4300	6503	SO:0001583	missense	11009	exon7			TAGAAGCAGCTCT	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.551C>T	1.37:g.207076334C>T	ENSP00000294984:p.Ala184Val	57	0		98	2	NM_001185156	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171183	0.21621	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	T;T;T	0.18657	2.2;2.2;2.2	4.34	2.38	0.29361	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.607741	0.15719	N	0.248009	T	0.10680	0.0261	N	0.17723	0.515	0.26938	N	0.966314	B;B;B	0.31705	0.336;0.319;0.319	B;B;B	0.26416	0.048;0.069;0.069	T	0.19160	-1.0314	10	0.29301	T	0.29	.	6.2782	0.20993	0.0:0.7572:0.0:0.2428	.	132;185;184	Q2YHE5;Q53XZ7;Q13007	.;.;IL24_HUMAN	V	185;184;132	ENSP00000375795:A185V;ENSP00000294984:A184V;ENSP00000356060:A132V	ENSP00000294984:A184V	A	+	2	0	IL24	205142957	0.129000	0.22400	0.913000	0.36048	0.547000	0.35210	-0.002000	0.12924	1.017000	0.39495	0.563000	0.77884	GCA	.		0.488	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		T	207076334	C	T	207076334	3	4	13	1	0	0	0	0	1	0	0	0	7704	710	25	3	576	3	IL24	1	207076334	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	45260083	207076334	42174287	13	1759											
PSEN2	5664	broad.mit.edu	37	1	227076607	227076607	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:227076607G>A	ENST00000366783.3	+	8	1080	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PSEN2_ENST00000366782.1_Missense_Mutation_p.G248D|PSEN2_ENST00000340188.4_Missense_Mutation_p.G215D|PSEN2_ENST00000391872.2_Missense_Mutation_p.G248D|PSEN2_ENST00000422240.2_Missense_Mutation_p.G215D|PSEN2_ENST00000472139.2_Missense_Mutation_p.G71D	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	215					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)				GGGGCAGTGGGCATGGTGTGC	0.582																																					p.G215D													.	PSEN2	55	0			c.G644A						.						141	122	129					1																	227076607		2203	4300	6503	SO:0001583	missense	5664	exon8			CAGTGGGCATGGT	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.644G>A	1.37:g.227076607G>A	ENSP00000355747:p.Gly215Asp	30	0		39	4	NM_012486	A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020071	0.93462	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D;D	0.99904	-7.69;-7.69;-7.69;-7.69;-7.69;-7.69;-7.69	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96041	0.9024	10	0.87932	D	0	.	18.7799	0.91928	0.0:0.0:1.0:0.0	.	215;215	A8K8D4;P49810	.;PSN2_HUMAN	D	215;215;215;42;248;248;71	ENSP00000355747:G215D;ENSP00000339860:G215D;ENSP00000403737:G215D;ENSP00000427912:G42D;ENSP00000355746:G248D;ENSP00000375745:G248D;ENSP00000427806:G71D	ENSP00000339860:G215D	G	+	2	0	PSEN2	225143230	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.790000	0.99075	2.426000	0.82243	0.561000	0.74099	GGC	.		0.582	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		A	227076607	G	A	227076607	3	1	13	1	0	0	0	0	1	0	0	0	12693	1203	42	3	662	3	PSEN2	1	227076607	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	20000273	227076607	22174014	14	1760											
WNT9A	7483	ucsc.edu	37	1	228109277	228109277	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:228109277C>T	ENST00000272164.5	-	4	1050	c.1040G>A	c.(1039-1041)tGc>tAc	p.C347Y		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	347					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)				CTCCACATAGCAGCACCAACG	0.637																																					p.C347Y													.	WNT9A	39	0			c.G1040A						.						69	58	62					1																	228109277		2203	4300	6503	SO:0001583	missense	7483	exon4			ACATAGCAGCACC	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.1040G>A	1.37:g.228109277C>T	ENSP00000272164:p.Cys347Tyr	24	0		38	4	NM_003395	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853144	0.71719	.	.	ENSG00000143816	ENST00000272164	D	0.82984	-1.67	4.64	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.93897	0.8047	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94885	0.8042	10	0.87932	D	0	.	11.8878	0.52613	0.0:0.9152:0.0:0.0848	.	347	O14904	WNT9A_HUMAN	Y	347	ENSP00000272164:C347Y	ENSP00000272164:C347Y	C	-	2	0	WNT9A	226175900	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.564000	0.82326	1.184000	0.42957	0.484000	0.47621	TGC	.		0.637	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		T	228109277	C	T	228109277	3	4	13	1	0	0	0	0	1	0	0	0	17447	710	25	3	61	3	WNT9A	1	228109277	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	1032670	228109277	21141344	15	1761											
OR6F1	343169	hgsc.bcm.edu	37	1	247875415	247875415	+	Missense_Mutation	SNP	A	A	C	rs2282316	byFrequency	TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr1:247875415A>C	ENST00000302084.2	-	1	690	c.643T>G	c.(643-645)Ttt>Gtt	p.F215V	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																																					p.F215V		.											OR6F1,NS,carcinoma,0,1	OR6F1	0	1	Substitution - Missense(1)	stomach(1)	c.T643G						.						132	116	122					1																	247875415		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>G	1.37:g.247875415A>C	ENSP00000305640:p.Phe215Val	29	0		45	2	NM_001005286	B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.781750	0.00079	.	.	ENSG00000169214	ENST00000302084	T	0.00015	9.15	3.72	-1.83	0.07833	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	N	0.004102	T	0.00039	0.0001	N	0.01505	-0.83	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.12218	-1.0556	9	0.18276	T	0.48	-10.0518	2.2613	0.04068	0.3244:0.121:0.4315:0.1232	.	215	Q8NGZ6	OR6F1_HUMAN	V	215	ENSP00000305640:F215V	ENSP00000305640:F215V	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	.		0.552	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		C	247875415	A	C	247875415	3	2	13	1	0	0	0	0	1	0	0	0	11240	72	3	4	287	4	OR6F1	1	247875415	Missense_Mutation	SNP	A	TCGA-W5-AA2R-01A-11D-A417-09	19766138	247875415	1375206	16	1762											
ALLC	55821	hgsc.bcm.edu	37	2	3744995	3744995	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:3744995G>T	ENST00000252505.3	+	10	961	c.799G>T	c.(799-801)Gca>Tca	p.A267S	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	286					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.A267T(1)		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)		TTTCCGATTGGCACATCCTGG	0.373										HNSCC(21;0.051)																											p.A267S		.											ALLC,caecum,carcinoma,0,1	ALLC	0	1	Substitution - Missense(1)	large_intestine(1)	c.G799T						.						153	150	151					2																	3744995		1853	4098	5951	SO:0001583	missense	55821	exon10			CGATTGGCACATC	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.799G>T	2.37:g.3744995G>T	ENSP00000252505:p.Ala267Ser	85	0		66	3	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634410	0.47049	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.6	4.71	0.59529	Allantoicase domain (1);Galactose-binding domain-like (1);	0.150433	0.64402	N	0.000020	T	0.62454	0.2429	M	0.81682	2.555	0.32579	N	0.528785	B	0.25048	0.117	B	0.31101	0.124	T	0.70532	-0.4846	9	0.51188	T	0.08	-8.6623	13.6058	0.62046	0.0:0.0:0.8435:0.1565	.	286	Q8N6M5	ALLC_HUMAN	S	267	.	ENSP00000252505:A267S	A	+	1	0	ALLC	3722870	1.000000	0.71417	0.736000	0.30914	0.640000	0.38277	5.530000	0.67141	1.328000	0.45358	0.655000	0.94253	GCA	.		0.373	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			T	3744995	G	T	3744995	3	4	13	1	0	0	0	0	1	0	0	0	534	1203	42	3	833	3	ALLC	2	3744995	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		3744995	239454378	17	1763											
RAD51AP2	729475	hgsc.bcm.edu	37	2	17698681	17698681	+	Silent	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:17698681G>T	ENST00000399080.2	-	1	1025	c.1002C>A	c.(1000-1002)ctC>ctA	p.L334L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	334								p.L334L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTGGCTACTGAGTGATGGGT	0.333																																					p.L334L		.											RAD51AP2,NS,lymphoid_neoplasm,0,1	RAD51AP2	0	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1002A						.						75	69	71					2																	17698681		1816	4079	5895	SO:0001819	synonymous_variant	729475	exon1			GCTACTGAGTGAT	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1002C>A	2.37:g.17698681G>T		39	0		32	2	NM_001099218		Silent	SNP	ENST00000399080.2	37	CCDS42656.1																																																																																			.		0.333	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		T	17698681	G	T	17698681	2	4	13	1	0	0	0	0	0	0	0	1	13032	1277	45	3		3	RAD51AP2	2	17698681	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	13953686	17698681	225500692	18	1764											
DTNB	1838	hgsc.bcm.edu;bcgsc.ca	37	2	25611194	25611194	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:25611194G>T	ENST00000406818.3	-	17	1861	c.1612C>A	c.(1612-1614)Cat>Aat	p.H538N	DTNB_ENST00000407038.3_Missense_Mutation_p.H508N|DTNB_ENST00000288642.8_Missense_Mutation_p.H538N|DTNB_ENST00000407661.3_Missense_Mutation_p.H538N|DTNB_ENST00000496972.2_Missense_Mutation_p.H474N|DTNB_ENST00000407186.1_Missense_Mutation_p.H501N|DTNB_ENST00000405222.1_Missense_Mutation_p.H501N|DTNB_ENST00000404103.3_Missense_Mutation_p.H538N|DTNB_ENST00000545439.1_Missense_Mutation_p.H327N	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	538						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCTCCATGGGTGGGCGAT	0.597																																					p.H538N		.											.	.	.	0			c.C1612A						.						31	38	36					2																	25611194		2054	4177	6231	SO:0001583	missense	1838	exon17			CTCCATGGGTGGG	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1612C>A	2.37:g.25611194G>T	ENSP00000384084:p.His538Asn	71	0		72	4	NM_021907	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037338	0.54896	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.46063	2.21;2.21;2.22;2.21;2.22;2.21;2.21;2.22;0.88	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	L	0.58669	1.825	0.58432	D	0.999996	P;P;P;P;P;B;P;P;P;P;B;B	0.50528	0.895;0.758;0.791;0.749;0.895;0.305;0.895;0.936;0.936;0.534;0.399;0.399	P;P;P;B;B;B;B;P;P;B;B;B	0.54544	0.573;0.457;0.468;0.359;0.434;0.148;0.392;0.755;0.755;0.185;0.229;0.09	T	0.43360	-0.9396	10	0.25106	T	0.35	-19.8388	16.7312	0.85435	0.0:0.0:1.0:0.0	.	327;474;531;531;474;501;501;508;538;538;538;538	B7Z202;F5GZG4;B7Z6A9;Q1I0L3;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	N	474;538;538;538;508;501;501;538;327	ENSP00000444463:H474N;ENSP00000384084:H538N;ENSP00000385482:H538N;ENSP00000385193:H538N;ENSP00000384767:H508N;ENSP00000384787:H501N;ENSP00000385784:H501N;ENSP00000288642:H538N;ENSP00000444961:H327N	ENSP00000288642:H538N	H	-	1	0	DTNB	25464698	1.000000	0.71417	0.956000	0.39512	0.167000	0.22549	9.618000	0.98365	2.551000	0.86045	0.561000	0.74099	CAT	.		0.597	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		T	25611194	G	T	25611194	3	4	13	1	0	0	0	0	1	0	0	0	4803	1348	47	3	287	3	DTNB	2	25611194	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	7912513	25611194	217588179	19	1765											
ABHD1	84696	broad.mit.edu	37	2	27353427	27353427	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:27353427T>C	ENST00000316470.4	+	9	1147	c.1033T>C	c.(1033-1035)Tcc>Ccc	p.S345P	PREB_ENST00000416802.1_5'Flank	NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	345						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCCAACACTCCCCCTACGT	0.632																																					p.S345P													.	ABHD1	18	0			c.T1033C						.						86	90	89					2																	27353427		2203	4300	6503	SO:0001583	missense	84696	exon9			CAACACTCCCCCT	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"Abhydrolase domain containing"	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.1033T>C	2.37:g.27353427T>C	ENSP00000326491:p.Ser345Pro	42	0		40	3	NM_032604	B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	T	9.758	1.169276	0.21621	.	.	ENSG00000143994	ENST00000316470	T	0.71103	-0.54	5.42	4.28	0.50868	.	0.097401	0.44097	D	0.000490	T	0.73544	0.3600	L	0.61218	1.895	0.09310	N	1	D	0.58970	0.984	P	0.59643	0.861	T	0.63963	-0.6518	10	0.30854	T	0.27	-2.7562	4.294	0.10892	0.1764:0.0916:0.0:0.7319	.	345	Q96SE0	ABHD1_HUMAN	P	345	ENSP00000326491:S345P	ENSP00000326491:S345P	S	+	1	0	ABHD1	27206931	0.000000	0.05858	0.050000	0.19076	0.028000	0.11728	0.028000	0.13644	2.055000	0.61198	0.418000	0.28097	TCC	.		0.632	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		C	27353427	T	C	27353427	3	2	13	1	0	0	0	0	1	0	0	0	73	1551	54	4	1067	4	ABHD1	2	27353427	Missense_Mutation	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	1742233	27353427	215845946	20	1766											
GALNT14	79623	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	31178586	31178586	+	Silent	SNP	A	A	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:31178586A>T	ENST00000349752.5	-	6	1191	c.552T>A	c.(550-552)atT>atA	p.I184I	GALNT14_ENST00000324589.5_Silent_p.I189I|GALNT14_ENST00000356174.3_Silent_p.I151I|GALNT14_ENST00000420311.2_Silent_p.I149I|GALNT14_ENST00000406653.1_Silent_p.I164I|GALNT14_ENST00000486564.1_5'Flank	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	184	Catalytic subdomain A.				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(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCGCCCCGAATCCGGGACC	0.597																																					p.I189I		.											.	.	.	0			c.T567A						.						57	57	57					2																	31178586		2203	4300	6503	SO:0001819	synonymous_variant	79623	exon7			GCCCCGAATCCGG	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.552T>A	2.37:g.31178586A>T		22	0		24	5	NM_001253826	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	CCDS1773.2																																																																																			.		0.597	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		T	31178586	A	T	31178586	2	4	13	1	0	0	0	0	0	0	0	1	6237	242	9	5		5	GALNT14	2	31178586	Silent	SNP	A	TCGA-W5-AA2R-01A-11D-A417-09	3825159	31178586	212020787	21	1767											
SPTBN1	6711	bcgsc.ca	37	2	54858076	54858076	+	Silent	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:54858076C>T	ENST00000356805.4	+	16	3173	c.2892C>T	c.(2890-2892)tgC>tgT	p.C964C	SPTBN1_ENST00000333896.5_Silent_p.C951C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	964					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)			ACCTCGAGTGCAATGAAACCA	0.577																																					p.C964C													.	SPTBN1	378	0			c.C2892T						.						58	52	54					2																	54858076		2203	4300	6503	SO:0001819	synonymous_variant	6711	exon16			CGAGTGCAATGAA		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.2892C>T	2.37:g.54858076C>T		18	0		10	3	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																			.		0.577	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54858076	C	T	54858076	2	4	13	1	0	0	0	0	0	0	0	1	15166	718	25	3		3	SPTBN1	2	54858076	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	23679490	54858076	188341297	22	1768											
ANKRD36	375248	broad.mit.edu	37	2	97877449	97877449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:97877449delA	ENST00000461153.2	+	58	3684	c.3440delA	c.(3439-3441)gaafs	p.E1147fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.E1147fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1147										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGGCCACGGAAAAAAAGGAT	0.333																																					p.E1147fs													.	ANKRD36	170	0			c.3440delA						.						144	136	139					2																	97877449		692	1591	2283	SO:0001589	frameshift_variant	375248	exon58			CCACGGAAAAAAA	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.3440delA	2.37:g.97877449delA	ENSP00000419530:p.Glu1147fs	168	0		123	5	NM_001164315	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	CCDS54379.1																																																																																			.		0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			-	97877449	A	-	97877449	7	5	13	1	0	1	0	1	0	0	0	0	665	246	9	0	3670	0	ANKRD36	2	97877449	Frame_Shift_Del	DEL	A	TCGA-W5-AA2R-01A-11D-A417-09	43019373	97877449	145321924	23	1769											
NCK2	8440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	106471558	106471558	+	Silent	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:106471558C>T	ENST00000233154.4	+	3	481	c.39C>T	c.(37-39)taC>taT	p.Y13Y	NCK2_ENST00000522586.1_Silent_p.Y13Y|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000393349.2_Silent_p.Y13Y|NCK2_ENST00000451463.2_Silent_p.Y13Y|AC009505.2_ENST00000598281.1_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	13	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						AGTGGGACTACACCGCCCAGC	0.537																																					p.Y13Y		.											.	.	.	0			c.C39T						.						92	90	90					2																	106471558		2203	4300	6503	SO:0001819	synonymous_variant	8440	exon2			GGACTACACCGCC	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.39C>T	2.37:g.106471558C>T		41	0		23	5	NM_001004720	D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	CCDS33266.1																																																																																			.		0.537	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		T	106471558	C	T	106471558	2	4	13	1	0	0	0	0	0	0	0	1	10259	489	17	3		3	NCK2	2	106471558	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	8594109	106471558	136727815	24	1770											
RGPD5	727851	broad.mit.edu;bcgsc.ca	37	2	113147025	113147025	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:113147025C>T	ENST00000302558.3	-	20	3688	c.3497G>A	c.(3496-3498)tGc>tAc	p.C1166Y	RGPD8_ENST00000409750.1_Missense_Mutation_p.C1026Y	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1166	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						AAGCCGCTGGCATTCCTCAAA	0.438																																					p.C1166Y													.	RGPD8	81	0			c.G3497A						.						1	1	1					2																	113147025		5	27	32	SO:0001583	missense	727851	exon20			CGCTGGCATTCCT	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.3497G>A	2.37:g.113147025C>T	ENSP00000306637:p.Cys1166Tyr	224	0		162	17	NM_001164463	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	9.621	1.133937	0.21123	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.48201	0.82;0.82	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.59918	0.2229	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62590	-0.6822	9	0.87932	D	0	-3.2478	10.3508	0.43934	0.0:1.0:0.0:0.0	.	1166	O14715	RGPD8_HUMAN	Y	1166;1026	ENSP00000306637:C1166Y;ENSP00000386511:C1026Y	ENSP00000306637:C1166Y	C	-	2	0	RGPD8	112863496	1.000000	0.71417	0.996000	0.52242	0.666000	0.39218	5.837000	0.69381	1.299000	0.44798	0.152000	0.16155	TGC	.		0.438	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		T	113147025	C	T	113147025	3	4	13	1	0	0	0	0	1	0	0	0	13334	710	25	3	12830	3	RGPD5	2	113147025	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	6675467	113147025	130052348	25	1771											
METTL8	79828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	172188372	172188372	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:172188372G>T	ENST00000375258.4	-	6	877	c.662C>A	c.(661-663)tCt>tAt	p.S221Y		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	221						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GGACTCCGGAGAGTTCCTATG	0.438																																					.		.											.	.	.	0			.						.						43	42	42					2																	172188372		2202	4299	6501	SO:0001583	missense	79828	p.S221Y			TCCGGAGAGTTCC	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"tension-induced/inhibited protein"	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.662C>A	2.37:g.172188372G>T	ENSP00000364407:p.Ser221Tyr	31	0		27	10	.	Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37		.	.	.	.	.	.	.	.	.	.	G	14.86	2.661588	0.47572	.	.	ENSG00000123600	ENST00000375258	T	0.04156	3.69	5.71	-4.22	0.03800	Methyltransferase type 11 (1);	1.272120	0.04928	N	0.456171	T	0.03564	0.0102	N	0.12422	0.21	0.09310	N	1	P;P;P	0.48764	0.915;0.501;0.641	P;B;P	0.48227	0.571;0.26;0.447	T	0.32877	-0.9890	10	0.02654	T	1	-0.0064	9.8108	0.40822	0.6366:0.0:0.2606:0.1028	.	176;221;221	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	Y	221	ENSP00000364407:S221Y	ENSP00000364407:S221Y	S	-	2	0	METTL8	171896618	0.000000	0.05858	0.001000	0.08648	0.778000	0.44026	-0.293000	0.08320	-1.388000	0.02092	-0.471000	0.05019	TCT	.		0.438	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		T	172188372	G	T	172188372	3	4	13	1	0	0	0	0	1	0	0	0	9545	942	33	3	581	3	METTL8	2	172188372	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	59041347	172188372	71011001	26	1772											
HTR2B	3357	hgsc.bcm.edu	37	2	231973540	231973540	+	Silent	SNP	G	G	T	rs539709485		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr2:231973540G>T	ENST00000258400.3	-	4	1649	c.1137C>A	c.(1135-1137)gtC>gtA	p.V379V	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	379					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	AGAGGGTGTAGACCAAAGGAT	0.423																																					p.V379V	Ovarian(155;1331 1891 12853 14038 34991)	.											HTR2B,NS,carcinoma,0,1	HTR2B	0	0			c.C1137A						.						105	107	107					2																	231973540		2203	4300	6503	SO:0001819	synonymous_variant	3357	exon4			GGTGTAGACCAAA		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1137C>A	2.37:g.231973540G>T		33	0		31	2	NM_000867	B2R9D5|Q53TI1|Q62221|Q6P523	Silent	SNP	ENST00000258400.3	37	CCDS2483.1																																																																																			.		0.423	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		T	231973540	G	T	231973540	2	4	13	1	0	0	0	0	0	0	0	1	7469	929	33	3		3	HTR2B	2	231973540	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	59785168	231973540	11225833	27	1773											
EXOG	9941	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	38539183	38539183	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr3:38539183G>T	ENST00000287675.5	+	2	323	c.227G>T	c.(226-228)tGt>tTt	p.C76F	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	76					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						GAGGCAAGGTGTTACACTAAT	0.413																																					p.C76F		.											.	.	.	0			c.G227T						.						94	93	93					3																	38539183		2203	4300	6503	SO:0001583	missense	9941	exon2			CAAGGTGTTACAC	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.227G>T	3.37:g.38539183G>T	ENSP00000287675:p.Cys76Phe	84	0		40	4	NM_005107	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	3.850	-0.032082	0.07543	.	.	ENSG00000157036	ENST00000287675	T	0.26957	1.7	5.16	2.37	0.29283	DNA/RNA non-specific endonuclease (1);Extracellular Endonuclease, subunit A (1);	0.717335	0.14211	N	0.334076	T	0.17492	0.0420	L	0.33485	1.01	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.22138	-1.0225	9	.	.	.	0.1139	8.6807	0.34207	0.3618:0.0:0.6382:0.0	.	76	Q9Y2C4	EXOG_HUMAN	F	76	ENSP00000287675:C76F	.	C	+	2	0	EXOG	38514187	0.101000	0.21875	0.068000	0.19968	0.996000	0.88848	0.350000	0.20079	0.769000	0.33313	0.563000	0.77884	TGT	.		0.413	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		T	38539183	G	T	38539183	3	4	13	1	0	0	0	0	1	0	0	0	5328	1377	48	3	233	3	EXOG	3	38539183	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		38539183	159483247	28	1774											
DNAH12	201625	hgsc.bcm.edu	37	3	57394104	57394104	+	Missense_Mutation	SNP	C	C	T	rs377699028		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr3:57394104C>T	ENST00000351747.2	-	40	6302	c.6122G>A	c.(6121-6123)cGa>cAa	p.R2041Q		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2041	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(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TGAGAAGATTCGGACCATAGT	0.413																																					p.R2041Q		.											DNAH12,caecum,carcinoma,0,1	DNAH12	0	0			c.G6122A						.	C	GLN/ARG	0,1384		0,0,692	123	109	113		6122	5.2	1	3		113	1,3181		0,1,1590	no	missense	DNAH12	NM_178504.4	43	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	probably-damaging	2041/3093	57394104	1,4565	692	1591	2283	SO:0001583	missense	201625	exon40			AAGATTCGGACCA	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.6122G>A	3.37:g.57394104C>T	ENSP00000295937:p.Arg2041Gln	70	0		32	2	NM_178504	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	C	14.41	2.526206	0.44969	0.0	3.14E-4	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.39056	1.1;1.1	5.21	5.21	0.72293	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.62282	0.2415	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.63005	-0.6733	9	0.48119	T	0.1	.	18.76	0.91847	0.0:1.0:0.0:0.0	.	2041	Q6ZR08	DYH12_HUMAN	Q	2041;2060	ENSP00000295937:R2041Q;ENSP00000418137:R2060Q	ENSP00000295937:R2041Q	R	-	2	0	DNAH12	57369144	0.998000	0.40836	0.998000	0.56505	0.984000	0.73092	3.872000	0.56085	2.421000	0.82119	0.557000	0.71058	CGA	.		0.413	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		T	57394104	C	T	57394104	3	4	13	1	0	0	0	0	1	0	0	0	4614	884	31	1	3236	1	DNAH12	3	57394104	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	18854921	57394104	140628326	29	1775											
POU1F1	5449	hgsc.bcm.edu	37	3	87311274	87311274	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr3:87311274C>A	ENST00000350375.2	-	4	675	c.551G>T	c.(550-552)tGc>tTc	p.C184F	POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Missense_Mutation_p.C210F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	184	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTTCAGTTTGCATGCATTTTT	0.428																																					p.C210F		.											POU1F1_ENST00000344265,caecum,carcinoma,0,2	POU1F1_ENST00000344265	0	0			c.G629T						.						142	132	136					3																	87311274		2203	4300	6503	SO:0001583	missense	5449	exon4			AGTTTGCATGCAT	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.551G>T	3.37:g.87311274C>A	ENSP00000263781:p.Cys184Phe	34	0		27	2	NM_001122757	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393568	0.62066	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.84370	-1.84;-1.84	6.02	6.02	0.97574	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.93446	0.7909	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93317	0.6689	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	210;184	P28069-2;P28069	.;PIT1_HUMAN	F	184;210	ENSP00000263781:C184F;ENSP00000342931:C210F	ENSP00000342931:C210F	C	-	2	0	POU1F1	87393964	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	TGC	.		0.428	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		A	87311274	C	A	87311274	3	1	13	1	0	0	0	0	1	0	0	0	12308	710	25	3	336	3	POU1F1	3	87311274	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	29917170	87311274	110711156	30	1776											
LPP	4026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	188590442	188590442	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr3:188590442C>T	ENST00000312675.4	+	10	1847	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	LPP_ENST00000543006.1_Missense_Mutation_p.P534L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	534	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		AAATTTGCCCCGCGATGTTCT	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																p.P534L		.		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	LPP_ENST00000312675,colon,carcinoma,0,1	LPP_ENST00000312675	0	0			c.C1601T						.						130	122	125					3																	188590442		2203	4300	6503	SO:0001583	missense	4026	exon10			TTGCCCCGCGATG	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.1601C>T	3.37:g.188590442C>T	ENSP00000318089:p.Pro534Leu	26	0		35	15	NM_005578	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293830	0.95546	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.88509	-2.39;-2.39	5.51	5.51	0.81932	Zinc finger, LIM-type (2);	0.047447	0.85682	N	0.000000	D	0.96266	0.8782	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97160	0.9837	10	0.87932	D	0	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	387;534	B7Z8W0;Q93052	.;LPP_HUMAN	L	534	ENSP00000318089:P534L;ENSP00000438891:P534L	ENSP00000318089:P534L	P	+	2	0	LPP	190073136	1.000000	0.71417	0.825000	0.32803	0.972000	0.66771	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCG	.		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		T	188590442	C	T	188590442	3	4	13	1	0	0	0	0	1	0	0	0	8958	652	23	1	1631	1	LPP	3	188590442	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	101279168	188590442	9431988	31	1777											
HTT	3064	broad.mit.edu	37	4	3076651	3076652	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:3076651_3076652delGC	ENST00000355072.5	+	1	244_245	c.99_100delGC	c.(97-102)cagcagfs	p.QQ33fs	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	33	Poly-Gln.				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)		agcagcagcagcagcagcagca	0.698																																					p.33_34del													.	HTT	221	0			c.99_100del						.																																			SO:0001589	frameshift_variant	3064	exon1			GCAGCAGCAGCAG	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.99_100delGC	4.37:g.3076651_3076652delGC	ENSP00000347184:p.Gln33fs	11	0		7	2	NM_002111	Q9UQB7	Frame_Shift_Del	DEL	ENST00000355072.5	37	CCDS43206.1																																																																																			.		0.698	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		-	3076652	GC	-	3076651	7	5	13	1	0	1	0	1	0	0	0	0	7484	962	34	0	101	0	HTT	4	3076651	Frame_Shift_Del	DEL	GC	TCGA-W5-AA2R-01A-11D-A417-09		3076651	188077625	32	1778	7	2									
HTT	3064	broad.mit.edu	37	4	3076654	3076657	+	Frame_Shift_Del	DEL	GCAG	GCAG	-	rs587777899|rs9993357		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:3076654_3076657delGCAG	ENST00000355072.5	+	1	247_250	c.102_105delGCAG	c.(100-105)cagcagfs	p.QQ36fs	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				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)		agcagcagcagcagcagcaacagc	0.706																																					p.34_35del													.	HTT	221	0			c.102_105del						.																																			SO:0001589	frameshift_variant	3064	exon1			GCAGCAGCAGCAG	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.102_105delGCAG	4.37:g.3076654_3076657delGCAG	ENSP00000347184:p.Gln36fs	11	0		7	2	NM_002111	Q9UQB7	Frame_Shift_Del	DEL	ENST00000355072.5	37	CCDS43206.1																																																																																			.		0.706	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		-	3076657	GCAG	-	3076654	7	5	13	1	0	1	0	1	0	0	0	0	7484	962	34	0	104	0	HTT	4	3076654	Frame_Shift_Del	DEL	GCAG	TCGA-W5-AA2R-01A-11D-A417-09	3	3076654	188077622	33	1779	7	2									
OTOP1	133060	hgsc.bcm.edu	37	4	4228425	4228425	+	Missense_Mutation	SNP	T	T	C	rs78657691		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:4228425T>C	ENST00000296358.4	-	1	191	c.167A>G	c.(166-168)aAa>aGa	p.K56R		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)		CTCGGCCAGTTTCTGTGGGAC	0.741																																					p.K56R		.											OTOP1,caecum,carcinoma,0,1	OTOP1	0	0			c.A167G						.																																			SO:0001583	missense	133060	exon1			GCCAGTTTCTGTG	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.167A>G	4.37:g.4228425T>C	ENSP00000296358:p.Lys56Arg	7	2		8	2	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976461	0.53720	.	.	ENSG00000163982	ENST00000296358	T	0.13420	2.59	4.08	2.78	0.32641	.	0.000000	0.85682	U	0.000000	T	0.24812	0.0602	L	0.39898	1.24	0.53005	D	0.99996	D	0.89917	1.0	D	0.80764	0.994	T	0.01561	-1.1324	10	0.87932	D	0	.	10.0264	0.42074	0.0:0.0:0.1696:0.8304	.	56	Q7RTM1	OTOP1_HUMAN	R	56	ENSP00000296358:K56R	ENSP00000296358:K56R	K	-	2	0	OTOP1	4279326	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	4.318000	0.59190	1.490000	0.48466	0.352000	0.21897	AAA	.		0.741	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228425	T	C	4228425	3	2	13	1	0	0	0	0	1	0	0	0	11344	1841	64	4	1695	4	OTOP1	4	4228425	Missense_Mutation	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	1151771	4228425	186925851	34	1780											
SLIT2	9353	hgsc.bcm.edu	37	4	20530586	20530586	+	Silent	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:20530586C>A	ENST00000504154.1	+	16	1729	c.1477C>A	c.(1477-1479)Cga>Aga	p.R493R	SLIT2_ENST00000503837.1_Silent_p.R489R|SLIT2_ENST00000273739.5_Silent_p.R497R|MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000503823.1_Silent_p.R485R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	493					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)	p.R493*(1)		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						AGAAGATTATCGATCAAAATT	0.353																																					p.R493R		.											SLIT2,NS,carcinoma,0,1	SLIT2	0	1	Substitution - Nonsense(1)	endometrium(1)	c.C1477A						.						95	99	98					4																	20530586		2203	4300	6503	SO:0001819	synonymous_variant	9353	exon16			GATTATCGATCAA	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.1477C>A	4.37:g.20530586C>A		40	0		39	2	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																			.		0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20530586	C	A	20530586	2	1	13	1	0	0	0	0	0	0	0	1	14785	876	31	2		2	SLIT2	4	20530586	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	16302161	20530586	170623690	35	1781											
LIAS	11019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	39472905	39472905	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:39472905G>C	ENST00000513731.1	+	5	595	c.543G>C	c.(541-543)caG>caC	p.Q181H	LIAS_ENST00000261434.3_Missense_Mutation_p.Q311H|LIAS_ENST00000340169.2_Missense_Mutation_p.Q311H|LIAS_ENST00000381846.1_Missense_Mutation_p.Q268H					lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						AATATATGCAGCCAACAAGGC	0.363																																					p.Q311H		.											.	.	.	0			c.G933C						.						152	135	140					4																	39472905		2203	4300	6503	SO:0001583	missense	11019	exon9			TATGCAGCCAACA	AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.543G>C	4.37:g.39472905G>C	ENSP00000425580:p.Gln181His	53	0		35	7	NM_194451		Missense_Mutation	SNP	ENST00000513731.1	37		.	.	.	.	.	.	.	.	.	.	G	18.50	3.636717	0.67130	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731;ENST00000381846	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.72	1.49	0.22878	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91109	0.7201	H	0.98901	4.365	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.978;0.994;0.977	D	0.89281	0.3612	10	0.87932	D	0	-12.0035	7.834	0.29360	0.4625:0.0:0.5375:0.0	.	268;181;311	C9JCF6;D6RCP8;O43766	.;.;LIAS_HUMAN	H	311;311;181;268	ENSP00000340676:Q311H;ENSP00000261434:Q311H;ENSP00000425580:Q181H;ENSP00000371270:Q268H	ENSP00000261434:Q311H	Q	+	3	2	LIAS	39149300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.662000	0.37418	0.345000	0.23873	0.563000	0.77884	CAG	.		0.363	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451		C	39472905	G	C	39472905	3	2	13	1	0	0	0	0	1	0	0	0	8807	962	34	5	967	5	LIAS	4	39472905	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	18942319	39472905	151681371	36	1782											
SEPT11	55752	hgsc.bcm.edu	37	4	77949912	77949912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:77949912G>T	ENST00000264893.6	+	8	1285	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	SEPT11_ENST00000541121.1_Nonsense_Mutation_p.E372*|SEPT11_ENST00000502584.1_Nonsense_Mutation_p.E362*|SEPT11_ENST00000505788.1_Nonsense_Mutation_p.E362*|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.E372*	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	362					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GGCAGAGAAAGAGGTAAGCCA	0.398																																					p.E362X		.											.	.	.	0			c.G1084T						.						95	91	92					4																	77949912		2203	4300	6503	SO:0001587	stop_gained	55752	exon8			GAGAAAGAGGTAA	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.1084G>T	4.37:g.77949912G>T	ENSP00000264893:p.Glu362*	48	0		70	4	NM_018243	B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Nonsense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.070450|8.070450	0.98638|0.98638	.|.	.|.	ENSG00000138758|ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121;ENST00000502401|ENST00000506731	.|D	.|0.83673	.|-1.75	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.285862|.	0.34484|.	N|.	0.003932|.	.|D	.|0.91703	.|0.7377	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91561	.|0.5264	.|5	0.87932|0.72032	D|D	0|0.01	.|.	20.5596|20.5596	0.99324|0.99324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	362;362;354;362;372;372;15|90	.|ENSP00000423103:K90N	ENSP00000264893:E362X|ENSP00000423103:K90N	E|K	+|+	1|3	0|2	SEPT11|SEPT11	78168936|78168936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	9.338000|9.338000	0.96553|0.96553	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GAG|AAG	.		0.398	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		T	77949912	G	T	77949912	4	4	13	1	0	0	0	0	0	1	0	0	14106	943	33	3	1114	3	SEPT11	4	77949912	Nonsense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	38477007	77949912	113204364	37	1783											
TIGD2	166815	hgsc.bcm.edu	37	4	90035034	90035034	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:90035034G>T	ENST00000317005.2	+	1	1067	c.909G>T	c.(907-909)ttG>ttT	p.L303F	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	303	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L303F(1)		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)		AAGAAATGTTGAGTTCAGATG	0.408																																					p.L303F		.											TIGD2,colon,carcinoma,0,2	TIGD2	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G909T						.						64	64	64					4																	90035034		2203	4300	6503	SO:0001583	missense	166815	exon1			AATGTTGAGTTCA	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.909G>T	4.37:g.90035034G>T	ENSP00000317170:p.Leu303Phe	59	0		42	2	NM_145715		Missense_Mutation	SNP	ENST00000317005.2	37	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822257	0.32237	.	.	ENSG00000180346	ENST00000317005	T	0.44482	0.92	4.49	0.482	0.16815	.	0.000000	0.34046	N	0.004301	T	0.57286	0.2043	M	0.84156	2.68	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45086	-0.9285	10	0.48119	T	0.1	-1.2923	3.2349	0.06761	0.2778:0.0:0.4075:0.3147	.	303	Q4W5G0	TIGD2_HUMAN	F	303	ENSP00000317170:L303F	ENSP00000317170:L303F	L	+	3	2	TIGD2	90254057	0.998000	0.40836	0.230000	0.23976	0.902000	0.53008	0.656000	0.24948	0.128000	0.18479	0.557000	0.71058	TTG	.		0.408	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		T	90035034	G	T	90035034	3	4	13	1	0	0	0	0	1	0	0	0	15943	1281	45	3	911	3	TIGD2	4	90035034	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	12085122	90035034	101119242	38	1784											
NDST3	9348	hgsc.bcm.edu	37	4	119154220	119154220	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr4:119154220T>C	ENST00000296499.5	+	9	2276	c.1873T>C	c.(1873-1875)Tcc>Ccc	p.S625P	NDST3_ENST00000433996.2_Missense_Mutation_p.S544P	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	625	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)			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						CCTTAGTAACTCCCCCAGCCC	0.358																																					p.S625P		.											.	.	.	0			c.T1873C						.						163	162	162					4																	119154220		2203	4300	6503	SO:0001583	missense	9348	exon9			AGTAACTCCCCCA	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.1873T>C	4.37:g.119154220T>C	ENSP00000296499:p.Ser625Pro	111	0		80	4	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196383	0.58126	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.53640	0.61;0.61	5.64	5.64	0.86602	Sulfotransferase domain (1);	0.057217	0.64402	D	0.000001	T	0.41766	0.1173	N	0.17474	0.49	0.37744	D	0.925735	D;P	0.64830	0.994;0.848	P;P	0.49477	0.592;0.612	T	0.45673	-0.9245	10	0.37606	T	0.19	.	15.8571	0.78987	0.0:0.0:0.0:1.0	.	544;625	B4DI67;O95803	.;NDST3_HUMAN	P	625;544	ENSP00000296499:S625P;ENSP00000396625:S544P	ENSP00000296499:S625P	S	+	1	0	NDST3	119373668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.181000	0.71988	2.136000	0.66102	0.519000	0.50382	TCC	.		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		C	119154220	T	C	119154220	3	2	13	1	0	0	0	0	1	0	0	0	10296	1551	54	4	1903	4	NDST3	4	119154220	Missense_Mutation	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	29119186	119154220	72000056	39	1785											
C7	730	hgsc.bcm.edu	37	5	40945430	40945430	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr5:40945430G>T	ENST00000313164.9	+	7	1057	c.698G>T	c.(697-699)cGc>cTc	p.R233L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	233	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)				TCTTCTTCACGCAGTTATACT	0.323																																					p.R233L		.											C7_ENST00000313164,NS,carcinoma,0,1	C7_ENST00000313164	0	0			c.G698T						.						129	122	124					5																	40945430		1858	4098	5956	SO:0001583	missense	730	exon7			CTTCACGCAGTTA	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.698G>T	5.37:g.40945430G>T	ENSP00000322061:p.Arg233Leu	58	0		43	2	NM_000587	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733274	0.30684	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.83992	-1.79	5.15	-4.55	0.03441	Membrane attack complex component/perforin (MACPF) domain (2);	2.751520	0.01524	N	0.018474	T	0.61110	0.2321	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.55315	-0.8160	10	0.10902	T	0.67	1.0461	2.8041	0.05422	0.2628:0.455:0.1592:0.1231	.	233	P10643	CO7_HUMAN	L	233	ENSP00000322061:R233L	ENSP00000322061:R233L	R	+	2	0	C7	40981187	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.503000	0.02277	-0.810000	0.04375	-0.324000	0.08512	CGC	.		0.323	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			T	40945430	G	T	40945430	3	4	13	1	0	0	0	0	1	0	0	0	2382	1087	38	2	724	2	C7	5	40945430	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		40945430	139969830	40	1786											
RGS7BP	401190	hgsc.bcm.edu;bcgsc.ca	37	5	63802565	63802565	+	Silent	SNP	C	C	T	rs555466122		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr5:63802565C>T	ENST00000334025.2	+	1	440	c.114C>T	c.(112-114)agC>agT	p.S38S	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	38					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GCAGGGGCAGCGGCTCCGAGA	0.592																																					p.S38S		.											RGS7BP,NS,adenoma,0,1	RGS7BP	0	0			c.C114T						.						34	47	43					5																	63802565		2203	4300	6503	SO:0001819	synonymous_variant	401190	exon1			GGGCAGCGGCTCC	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"regulator of G-protein signalling 7 binding protein"			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.114C>T	5.37:g.63802565C>T		152	0		121	6	NM_001029875	B7Z3X1	Silent	SNP	ENST00000334025.2	37	CCDS34170.1																																																																																			.		0.592	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		T	63802565	C	T	63802565	2	4	13	1	0	0	0	0	0	0	0	1	13356	767	27	1		1	RGS7BP	5	63802565	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	22857135	63802565	117112695	41	1787											
C5orf36	285600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	93732013	93732013	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr5:93732013T>C	ENST00000513200.3	-	16	3161	c.3089A>G	c.(3088-3090)aAc>aGc	p.N1030S	KIAA0825_ENST00000427991.2_Missense_Mutation_p.N1030S	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	1030										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTCCACAGTGTTTCCGTCCTC	0.368																																					p.N1030S		.											.	.	.	0			c.A3089G						.						80	67	71					5																	93732013		692	1591	2283	SO:0001583	missense	285600	exon17			ACAGTGTTTCCGT	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.3089A>G	5.37:g.93732013T>C	ENSP00000424618:p.Asn1030Ser	42	0		38	8	NM_001145678	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000513200.3	37		.	.	.	.	.	.	.	.	.	.	T	17.37	3.371573	0.61624	.	.	ENSG00000185261	ENST00000513200;ENST00000427991	T;T	0.49139	0.79;0.79	5.47	5.47	0.80525	.	.	.	.	.	T	0.65863	0.2732	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66084	0.941;0.941	T	0.69548	-0.5116	9	0.72032	D	0.01	.	15.5428	0.76070	0.0:0.0:0.0:1.0	.	1030;1030	Q8IV33;C9J0Q2	K0825_HUMAN;.	S	1030	ENSP00000424618:N1030S;ENSP00000400288:N1030S	ENSP00000400288:N1030S	N	-	2	0	KIAA0825	93757769	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.866000	0.75506	2.091000	0.63221	0.533000	0.62120	AAC	.		0.368	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665		C	93732013	T	C	93732013	3	2	13	1	0	0	0	0	1	0	0	0	2302	1725	60	4	758	4	C5orf36	5	93732013	Missense_Mutation	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	29929448	93732013	87183247	42	1788											
TRIM36	55521	hgsc.bcm.edu	37	5	114483090	114483090	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr5:114483090G>T	ENST00000282369.3	-	3	421	c.300C>A	c.(298-300)ggC>ggA	p.G100G	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_De_novo_Start_OutOfFrame|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000513154.1_Splice_Site_p.G88G	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	100					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)		TGCGCTTCCAGCCTGTGTAAT	0.408																																					p.G100G		.											.	.	.	0			c.C300A						.						108	93	98					5																	114483090		2202	4300	6502	SO:0001630	splice_region_variant	55521	exon3			CTTCCAGCCTGTG	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.299-1C>A	5.37:g.114483090G>T		44	0		38	4	NM_018700	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	CCDS4115.1																																																																																			.		0.408	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	Silent	T	114483090	G	T	114483090	5	4	13	1	0	0	0	0	0	0	1	0	16558	985	34	3	1918	3	TRIM36	5	114483090	Splice_Site	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	20751077	114483090	66432170	43	1789											
REEP2	51308	bcgsc.ca	37	5	137776731	137776731	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr5:137776731C>T	ENST00000254901.5	+	2	181	c.59C>T	c.(58-60)gCc>gTc	p.A20V	REEP2_ENST00000506158.1_5'UTR|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Missense_Mutation_p.A20V	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	20					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGTACCCAGCCTATTCTTCC	0.577																																					p.A20V													REEP2,NS,carcinoma,-1,1	REEP2	21	0			c.C59T						.						101	87	91					5																	137776731		2203	4300	6503	SO:0001583	missense	51308	exon2			ACCCAGCCTATTC	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"Receptor accessory proteins"	17975	protein-coding gene	gene with protein product		609347	"chromosome 5 open reading frame 19"	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.59C>T	5.37:g.137776731C>T	ENSP00000254901:p.Ala20Val	17	0		10	3	NM_016606	Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	CCDS4205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.855461|5.855461	0.97030|0.97030	.|.	.|.	ENSG00000132563|ENSG00000132563	ENST00000378339;ENST00000254901|ENST00000512126	D;D|.	0.93488|.	-3.23;-3.23|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77164|0.77164	0.4090|0.4090	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.77557|.	0.986;0.99|.	T|T	0.76777|0.76777	-0.2834|-0.2834	10|5	0.62326|.	D|.	0.03|.	-8.1994|-8.1994	19.0909|19.0909	0.93227|0.93227	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	20;20|.	A8K3D2;Q9BRK0|.	.;REEP2_HUMAN|.	V|S	20|58	ENSP00000367590:A20V;ENSP00000254901:A20V|.	ENSP00000254901:A20V|.	A|P	+|+	2|1	0|0	REEP2|REEP2	137804630|137804630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.258000|7.258000	0.78371|0.78371	2.601000|2.601000	0.87937|0.87937	0.561000|0.561000	0.74099|0.74099	GCC|CCT	.		0.577	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		T	137776731	C	T	137776731	3	4	13	1	0	0	0	0	1	0	0	0	13250	739	26	3	65	3	REEP2	5	137776731	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	23293641	137776731	43138529	44	1790											
F13A1	2162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	6175067	6175067	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr6:6175067G>A	ENST00000264870.3	-	12	1758	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	498					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTACATCAGGGCAGTTTCTAG	0.458																																					p.A498V		.											.	.	.	0			c.C1493T						.						95	88	90					6																	6175067		2203	4300	6503	SO:0001583	missense	2162	exon12			ATCAGGGCAGTTT	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1493C>T	6.37:g.6175067G>A	ENSP00000264870:p.Ala498Val	66	0		59	13	NM_000129	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957330	0.92726	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.96168	-3.93	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97839	1.0267	10	0.87932	D	0	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	435;498	F5H080;P00488	.;F13A_HUMAN	V	498;435	ENSP00000264870:A498V	ENSP00000264870:A498V	A	-	2	0	F13A1	6120066	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	6.928000	0.75846	2.735000	0.93741	0.655000	0.94253	GCC	.		0.458	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		A	6175067	G	A	6175067	3	1	13	1	0	0	0	0	1	0	0	0	5356	1203	42	3	721	3	F13A1	6	6175067	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		6175067	164940000	45	1791											
GPLD1	2822	hgsc.bcm.edu	37	6	24448365	24448365	+	Silent	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr6:24448365G>A	ENST00000230036.1	-	16	1628	c.1518C>T	c.(1516-1518)tgC>tgT	p.C506C		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	506					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						AACATACCTGGCAAGAAATGG	0.453																																					p.C506C		.											GPLD1,colon,carcinoma,0,1	GPLD1	0	0			c.C1518T						.						136	130	132					6																	24448365		2203	4300	6503	SO:0001819	synonymous_variant	2822	exon16			TACCTGGCAAGAA	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.1518C>T	6.37:g.24448365G>A		57	0		43	2	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																			.		0.453	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		A	24448365	G	A	24448365	2	1	13	1	0	0	0	0	0	0	0	1	6640	1195	42	3		3	GPLD1	6	24448365	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	18273298	24448365	146666702	46	1792											
HLA-A	3105	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	29910349	29910349	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr6:29910349C>G	ENST00000396634.1	+	3	360	c.19C>G	c.(19-21)Cga>Gga	p.R7G	HLA-A_ENST00000376806.5_Missense_Mutation_p.R7G|HLA-A_ENST00000376809.5_Missense_Mutation_p.R7G|HLA-A_ENST00000376802.2_Missense_Mutation_p.R7G			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	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 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						CATGGCGCCCCGAACCCTCCT	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.R7G		.											.	.	.	0			c.C19G						.						35	37	37					6																	29910349		2201	4296	6497	SO:0001583	missense	3105	exon1	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GCGCCCCGAACCC	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.19C>G	6.37:g.29910349C>G	ENSP00000379873:p.Arg7Gly	90	0		56	15	NM_001242758	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.765959	0.31228	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00672	5.89;5.89;5.89;5.91	3.72	-6.36	0.01969	.	6.449800	0.01184	N	0.007157	T	0.00815	0.0027	L	0.46614	1.455	0.09310	N	1	D;D;D;D	0.69078	0.997;0.996;0.994;0.996	D;D;D;D	0.83275	0.985;0.996;0.988;0.996	T	0.39820	-0.9595	10	0.87932	D	0	.	4.6254	0.12476	0.2481:0.1715:0.4911:0.0893	.	7;7;7;7	Q5SRN7;P16188;Q5SRN5;P04439	.;1A30_HUMAN;.;1A03_HUMAN	G	7	ENSP00000379873:R7G;ENSP00000366002:R7G;ENSP00000366005:R7G;ENSP00000365998:R7G	ENSP00000348012:R7G	R	+	1	2	HLA-A	30018328	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.254000	0.01183	-1.159000	0.02807	-0.531000	0.04308	CGA	.		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29910349	C	G	29910349	3	3	13	1	0	0	0	0	1	0	0	0	7222	644	23	5	21	5	HLA-A	6	29910349	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	5461984	29910349	141204718	47	1793											
XPO5	57510	hgsc.bcm.edu	37	6	43519110	43519110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr6:43519110G>T	ENST00000265351.7	-	15	1863	c.1653C>A	c.(1651-1653)tgC>tgA	p.C551*	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	551	Necessary for interaction with ILF3.				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)			TAGTAAGGACGCAGGACAGGA	0.428																																					p.C551X		.											XPO5,NS,carcinoma,0,1	XPO5	0	0			c.C1653A						.						130	130	130					6																	43519110		1915	4132	6047	SO:0001587	stop_gained	57510	exon15			AAGGACGCAGGAC	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.1653C>A	6.37:g.43519110G>T	ENSP00000265351:p.Cys551*	83	0		80	4	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Nonsense_Mutation	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	G	36	5.930372	0.97116	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372252;ENST00000372258;ENST00000439465	.	.	.	5.55	0.0137	0.14097	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.6268	9.8634	0.41129	0.7424:0.0:0.2576:0.0	.	.	.	.	X	551;256;91;91;179	.	ENSP00000265351:C551X	C	-	3	2	XPO5	43627088	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	2.090000	0.41682	-0.096000	0.12329	-0.300000	0.09419	TGC	.		0.428	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		T	43519110	G	T	43519110	4	4	13	1	0	0	0	0	0	1	0	0	17496	1079	38	2	2033	2	XPO5	6	43519110	Nonsense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	13608761	43519110	127595957	48	1794											
COL21A1	81578	hgsc.bcm.edu	37	6	56035527	56035527	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr6:56035527C>T	ENST00000244728.5	-	5	1343	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	COL21A1_ENST00000370819.1_Missense_Mutation_p.V316M|COL21A1_ENST00000535941.1_Missense_Mutation_p.V316M	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	316	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)			ATTTTGTCCACACCATTTAAG	0.343																																					p.V316M		.											.	.	.	0			c.G946A						.						91	81	84					6																	56035527		1866	4101	5967	SO:0001583	missense	81578	exon5			TGTCCACACCATT	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.946G>A	6.37:g.56035527C>T	ENSP00000244728:p.Val316Met	78	0		77	4	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758652	0.31137	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13901	2.55;2.55;2.55	4.38	4.38	0.52667	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.268907	0.24109	N	0.041473	T	0.10078	0.0247	L	0.36672	1.1	0.80722	D	1	P;D	0.56521	0.911;0.976	P;P	0.47744	0.482;0.556	T	0.06588	-1.0818	10	0.48119	T	0.1	.	16.9495	0.86240	0.0:1.0:0.0:0.0	.	316;316	Q96P44-3;Q96P44	.;COLA1_HUMAN	M	316	ENSP00000244728:V316M;ENSP00000359855:V316M;ENSP00000444384:V316M	ENSP00000244728:V316M	V	-	1	0	COL21A1	56143486	0.531000	0.26338	1.000000	0.80357	0.918000	0.54935	1.044000	0.30329	1.982000	0.57802	0.591000	0.81541	GTG	.		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			T	56035527	C	T	56035527	3	4	13	1	0	0	0	0	1	0	0	0	3687	478	17	3	2031	3	COL21A1	6	56035527	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	12516417	56035527	115079540	49	1795											
UTRN	7402	hgsc.bcm.edu	37	6	145051568	145051568	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr6:145051568G>A	ENST00000367545.3	+	53	7885	c.7885G>A	c.(7885-7887)Gat>Aat	p.D2629N	UTRN_ENST00000367526.4_Missense_Mutation_p.D184N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2629					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)	p.D2629N(1)		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)		TTTCTTGGCTGATCAGCCAAT	0.448																																					p.D2629N		.											UTRN,bladder,carcinoma,0,2	UTRN	0	1	Substitution - Missense(1)	lung(1)	c.G7885A						.						84	90	88					6																	145051568		2203	4300	6503	SO:0001583	missense	7402	exon53			TTGGCTGATCAGC	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.7885G>A	6.37:g.145051568G>A	ENSP00000356515:p.Asp2629Asn	40	0		41	2	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808882	0.50421	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.34472	1.36;1.36	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000114	T	0.13927	0.0337	L	0.32530	0.975	0.41217	D	0.986488	B	0.24426	0.103	B	0.27715	0.082	T	0.04128	-1.0975	10	0.09590	T	0.72	.	14.4163	0.67153	0.073:0.0:0.927:0.0	.	2629	P46939	UTRO_HUMAN	N	2629;184	ENSP00000356515:D2629N;ENSP00000356496:D184N	ENSP00000356496:D184N	D	+	1	0	UTRN	145093261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.869000	0.75521	2.559000	0.86315	0.650000	0.86243	GAT	.		0.448	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	145051568	G	A	145051568	3	1	13	1	0	0	0	0	1	0	0	0	17152	1290	45	3	8095	3	UTRN	6	145051568	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	89016041	145051568	26063499	50	1796											
KDELR2	11014	broad.mit.edu	37	7	6523689	6523691	+	5'UTR	DEL	GGC	GGC	-			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr7:6523689_6523691delGGC	ENST00000258739.4	-	0	182_184				FLJ20306_ENST00000601673.1_In_Frame_Del_p.A22del|KDELR2_ENST00000490996.1_5'Flank|DAGLB_ENST00000436575.1_5'UTR|KDELR2_ENST00000463747.1_5'UTR	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2						intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAATGTTCATggcggcggcggcg	0.724																																					.													.	KDELR2	31	0			.						.																																			SO:0001623	5_prime_UTR_variant	0	.			GTTCATGGCGGCG	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.-3GCC>-	7.37:g.6523698_6523700delGGC		11	0		6	2	.	A4D2P4|Q6IPC5|Q96E30	In_Frame_Del	DEL	ENST00000258739.4	37	CCDS5351.1																																																																																			.		0.724	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			-	6523691	GGC	-	6523689	6	5	13	0	1	1	0	1	0	0	0	0	8147	1363	47	0		0	KDELR2	7	6523689	5'UTR	DEL	GGC	TCGA-W5-AA2R-01A-11D-A417-09		6523689	152614974	51	1797											
RAMP3	10268	broad.mit.edu	37	7	45197468	45197470	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr7:45197468_45197470delTGC	ENST00000242249.4	+	1	79_81	c.41_43delTGC	c.(40-45)ttgctg>ttg	p.14_15LL>L	RAMP3_ENST00000496212.1_In_Frame_Del_p.14_15LL>L|RAMP3_ENST00000481345.1_In_Frame_Del_p.14_15LL>L	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	14					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTTCTCCCGTTGCTGCTGCTGCT	0.768																																					p.14_15del													.	RAMP3	32	0			c.41_43del						.			4,3496		0,4,1746						0.1	0.1			4	12,7034		1,10,3512	no	coding	RAMP3	NM_005856.2		1,14,5258	A1A1,A1R,RR		0.1703,0.1143,0.1517				16,10530				SO:0001651	inframe_deletion	10268	exon1			TCCCGTTGCTGCT	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.41_43delTGC	7.37:g.45197477_45197479delTGC	ENSP00000242249:p.Leu18del	7	0		6	2	NM_005856	Q7Z2Y1	In_Frame_Del	DEL	ENST00000242249.4	37	CCDS5503.1																																																																																			.		0.768	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		-	45197470	TGC	-	45197468	7	5	13	1	0	1	0	1	0	0	0	0	13068	1821	63	0	43	0	RAMP3	7	45197468	In_Frame_Del	DEL	TGC	TCGA-W5-AA2R-01A-11D-A417-09	38673779	45197468	113941195	52	1798											
KIAA1324L	222223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	86521048	86521048	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr7:86521048C>G	ENST00000450689.2	-	21	3207	c.3022G>C	c.(3022-3024)Gca>Cca	p.A1008P	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A768P|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A841P|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A937P	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1008						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACCTTGGTTGCCAAAGATTTG	0.383																																					p.A1008P		.											.,2	.	225	0			c.G3022C						.						143	139	140					7																	86521048		2203	4300	6503	SO:0001583	missense	222223	exon21			TGGTTGCCAAAGA	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.3022G>C	7.37:g.86521048C>G	ENSP00000413445:p.Ala1008Pro	76	0		61	6	NM_001142749	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.560280|4.560280	0.86335|0.86335	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.20598|.	2.33;2.09;2.06;2.09|.	5.77|5.77	4.86|4.86	0.63082|0.63082	.|.	0.050258|.	0.85682|.	D|.	0.000000|.	T|T	0.61274|0.61274	0.2334|0.2334	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.991;0.999;0.999|.	T|T	0.59107|0.59107	-0.7516|-0.7516	10|5	0.56958|.	D|.	0.05|.	.|.	12.8102|12.8102	0.57635|0.57635	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	1008;768;841|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	P|A	1008;768;937;841|968	ENSP00000413445:A1008P;ENSP00000297222:A768P;ENSP00000397377:A937P;ENSP00000402390:A841P|.	ENSP00000297222:A768P|.	A|G	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86358984|86358984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.700000|5.700000	0.68318|0.68318	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	GCA|GGC	.		0.383	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		G	86521048	C	G	86521048	3	3	13	1	0	0	0	0	1	0	0	0	8251	739	26	5	75	5	KIAA1324L	7	86521048	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	41323580	86521048	72617615	53	1799											
DNAJC2	27000	hgsc.bcm.edu	37	7	102967063	102967063	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr7:102967063A>G	ENST00000379263.3	-	5	749	c.499T>C	c.(499-501)Tca>Cca	p.S167P	DNAJC2_ENST00000249270.7_Missense_Mutation_p.S167P|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	167	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.S167P(2)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GAAGGAACTGAGTTATCAAAA	0.353																																					p.S167P		.											Q99543-2,NS,carcinoma,0,2	Q99543-2	0	2	Substitution - Missense(2)	ovary(2)	c.T499C						.						94	88	90					7																	102967063		1844	4092	5936	SO:0001583	missense	27000	exon5			GAACTGAGTTATC	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.499T>C	7.37:g.102967063A>G	ENSP00000368565:p.Ser167Pro	49	0		46	2	NM_001129887	A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836203	0.71373	.	.	ENSG00000105821	ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.	.	.	5.55	5.55	0.83447	.	0.237467	0.43579	D	0.000542	T	0.60521	0.2275	M	0.68317	2.08	0.80722	D	1	P;P	0.43750	0.816;0.534	P;B	0.45343	0.477;0.328	T	0.64141	-0.6477	9	0.52906	T	0.07	-17.6215	11.6085	0.51045	0.8669:0.0:0.0:0.1331	.	167;167	Q99543-2;Q99543	.;DNJC2_HUMAN	P	167;167;167;93	.	ENSP00000249270:S167P	S	-	1	0	DNAJC2	102754299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.151000	0.50670	2.333000	0.79357	0.482000	0.46254	TCA	.		0.353	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			G	102967063	A	G	102967063	3	3	13	1	0	0	0	0	1	0	0	0	4653	304	11	4	1418	4	DNAJC2	7	102967063	Missense_Mutation	SNP	A	TCGA-W5-AA2R-01A-11D-A417-09	16446015	102967063	56171600	54	1800											
DOCK4	9732	hgsc.bcm.edu	37	7	111381218	111381218	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr7:111381218G>T	ENST00000437633.1	-	46	5201	c.4945C>A	c.(4945-4947)Caa>Aaa	p.Q1649K	DOCK4_ENST00000428084.1_Missense_Mutation_p.Q1658K|DOCK4_ENST00000494651.2_Missense_Mutation_p.Q532K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1649	Ser-rich.				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)				GCAGAAGCTTGTGAGGACAGT	0.408																																					p.Q1649K		.											.	.	.	0			c.C4945A						.						208	207	207					7																	111381218		1865	4102	5967	SO:0001583	missense	9732	exon46			AAGCTTGTGAGGA		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.4945C>A	7.37:g.111381218G>T	ENSP00000404179:p.Gln1649Lys	103	0		98	4	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768566|4.768566	0.90020|0.90020	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.05580	.|4.15;3.42;4.15	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.11452|0.11452	0.0279|0.0279	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.50943	.|0.801;0.898;0.92;0.9;0.94	.|B;P;B;B;P	.|0.49922	.|0.275;0.626;0.445;0.366;0.57	T|T	0.07578|0.07578	-1.0765|-1.0765	5|10	.|0.05721	.|T	.|0.95	.|.	19.3209|19.3209	0.94237|0.94237	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|556;532;1694;1649;1658	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	Q|K	1109;1681|1637;1658;532;1649;1646	.|ENSP00000410746:Q1658K;ENSP00000440944:Q532K;ENSP00000404179:Q1649K	.|ENSP00000345432:Q1646K	H|Q	-|-	3|1	2|0	DOCK4|DOCK4	111168454|111168454	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.999000|0.999000	0.98932|0.98932	9.411000|9.411000	0.97342|0.97342	2.800000|2.800000	0.96347|0.96347	0.655000|0.655000	0.94253|0.94253	CAC|CAA	.		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111381218	G	T	111381218	3	4	13	1	0	0	0	0	1	0	0	0	4703	1386	48	3	983	3	DOCK4	7	111381218	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	8414155	111381218	47757445	55	1801											
FEZF1	389549	bcgsc.ca	37	7	121943286	121943286	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr7:121943286C>T	ENST00000442488.2	-	2	948	c.881G>A	c.(880-882)gGa>gAa	p.G294E	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.G244E|FEZF1_ENST00000331178.4_Missense_Mutation_p.G290E	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	294					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAAACCTTTTCCGCACACTTT	0.468																																					p.G294E													.	FEZF1	60	0			c.G881A						.						143	135	138					7																	121943286		2203	4300	6503	SO:0001583	missense	389549	exon2			CCTTTTCCGCACA	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.881G>A	7.37:g.121943286C>T	ENSP00000411145:p.Gly294Glu	73	0		62	4	NM_001024613	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	32	5.139798	0.94560	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.20463	3.22;2.07;3.22	5.23	5.23	0.72850	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	0.47857	0.1468	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	0.47129	-0.9141	10	0.87932	D	0	-7.8378	19.2154	0.93776	0.0:1.0:0.0:0.0	.	294;244	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	E	294;290;244	ENSP00000411145:G294E;ENSP00000332777:G290E;ENSP00000392727:G244E	ENSP00000332777:G290E	G	-	2	0	FEZF1	121730522	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.009000	0.70745	2.602000	0.87976	0.650000	0.86243	GGA	.		0.468	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		T	121943286	C	T	121943286	3	4	13	1	0	0	0	0	1	0	0	0	5847	855	30	3	558	3	FEZF1	7	121943286	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	10562068	121943286	37195377	56	1802											
ACTR3C	653857	broad.mit.edu	37	7	149981851	149981851	+	Silent	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr7:149981851C>T	ENST00000539352.1	-	6	806	c.555G>A	c.(553-555)ccG>ccA	p.P185P	ACTR3C_ENST00000252071.4_Silent_p.P185P	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	185						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)										CCTTATACAGCGGACGCCGCA	0.408																																					p.P185P													.	.	.	0			c.G555A						.						76	66	69					7																	149981851		692	1591	2283	SO:0001819	synonymous_variant	653857	exon6			ATACAGCGGACGC		CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.555G>A	7.37:g.149981851C>T		58	0		31	3	NM_001164459	Q5CZI4	Silent	SNP	ENST00000539352.1	37	CCDS47744.1																																																																																			.		0.408	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2			T	149981851	C	T	149981851	2	4	13	1	0	0	0	0	0	0	0	1	214	755	27	1		1	ACTR3C	7	149981851	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	28038565	149981851	9156812	57	1803											
TEX15	56154	hgsc.bcm.edu	37	8	30701108	30701108	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr8:30701108G>T	ENST00000256246.2	-	1	5500	c.5426C>A	c.(5425-5427)tCt>tAt	p.S1809Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1809					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)		AAATGGAACAGAAAGAGAAAA	0.338																																					p.S1809Y		.											.	.	.	0			c.C5426A						.						79	77	78					8																	30701108		2203	4300	6503	SO:0001583	missense	56154	exon1			GGAACAGAAAGAG	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.5426C>A	8.37:g.30701108G>T	ENSP00000256246:p.Ser1809Tyr	54	0		43	3	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560917	0.65538	.	.	ENSG00000133863	ENST00000256246	T	0.24538	1.85	5.54	5.54	0.83059	.	0.000000	0.50627	D	0.000119	T	0.49881	0.1583	L	0.59436	1.845	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.48246	-0.9052	10	0.87932	D	0	.	18.2504	0.90000	0.0:0.0:1.0:0.0	.	1809	Q9BXT5	TEX15_HUMAN	Y	1809	ENSP00000256246:S1809Y	ENSP00000256246:S1809Y	S	-	2	0	TEX15	30820650	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.623000	0.74238	2.598000	0.87819	0.650000	0.86243	TCT	.		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30701108	G	T	30701108	3	4	13	1	0	0	0	0	1	0	0	0	15826	942	33	3	2959	3	TEX15	8	30701108	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		30701108	115662914	58	1804											
HTRA4	203100	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	38840515	38840515	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr8:38840515G>T	ENST00000302495.4	+	8	1316	c.1216G>T	c.(1216-1218)Gtg>Ttg	p.V406L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	406	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTTCCCTGATGTGAGTTCTGG	0.388																																					p.V406L													.	HTRA4	25	0			c.G1216T						.						122	115	117					8																	38840515		2203	4300	6503	SO:0001583	missense	203100	exon8			CCTGATGTGAGTT	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1216G>T	8.37:g.38840515G>T	ENSP00000305919:p.Val406Leu	44	1		46	15	NM_153692	Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550847	0.45383	.	.	ENSG00000169495	ENST00000302495	T	0.20200	2.09	5.5	4.61	0.57282	PDZ/DHR/GLGF (2);	0.083185	0.46758	N	0.000269	T	0.28400	0.0702	L	0.61036	1.89	0.44562	D	0.997528	P	0.43701	0.815	P	0.50109	0.631	T	0.05886	-1.0858	10	0.52906	T	0.07	-8.4248	4.6047	0.12371	0.0814:0.1544:0.6042:0.1601	.	406	P83105	HTRA4_HUMAN	L	406	ENSP00000305919:V406L	ENSP00000305919:V406L	V	+	1	0	HTRA4	38959672	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	2.492000	0.45311	1.289000	0.44618	0.655000	0.94253	GTG	.		0.388	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		T	38840515	G	T	38840515	3	4	13	1	0	0	0	0	1	0	0	0	7483	1377	48	3	1246	3	HTRA4	8	38840515	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	8139407	38840515	107523507	59	1805											
ZFHX4	79776	hgsc.bcm.edu	37	8	77775451	77775451	+	Silent	SNP	T	T	A	rs199874527		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr8:77775451T>A	ENST00000521891.2	+	11	9949	c.9501T>A	c.(9499-9501)ccT>ccA	p.P3167P	ZFHX4_ENST00000050961.6_Silent_p.P3118P|ZFHX4_ENST00000518282.1_Silent_p.P3141P|ZFHX4_ENST00000455469.2_Silent_p.P3122P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3118					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)			ctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																											p.P3167P		.											ZFHX4,colon,carcinoma,0,2	ZFHX4	0	0			c.T9501A						.						52	53	53					8																	77775451		2064	4225	6289	SO:0001819	synonymous_variant	79776	exon11			ACCACCTCCTCCT		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.9501T>A	8.37:g.77775451T>A		33	1		31	2	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77775451	T	A	77775451	2	1	13	1	0	0	0	0	0	0	0	1	17683	1538	54	5		5	ZFHX4	8	77775451	Silent	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	38934936	77775451	68588571	60	1806											
C8orf38	137682	hgsc.bcm.edu	37	8	96047805	96047805	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr8:96047805G>T	ENST00000396124.4	+	3	443		c.e3+1		NDUFAF6_ENST00000396111.2_Splice_Site|NDUFAF6_ENST00000286687.4_Splice_Site|NDUFAF6_ENST00000396113.1_Splice_Site|NDUFAF6_ENST00000542894.1_Splice_Site	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6						biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										ACTATGGAAGGTAAAAAAAAA	0.328																																					.		.											.	.	.	0			c.420+1G>T						.						35	36	35					8																	96047805		1809	4064	5873	SO:0001630	splice_region_variant	137682	exon3			TGGAAGGTAAAAA	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.420+1G>T	8.37:g.96047805G>T		132	4		155	9	NM_152416	A8MT28|A8MWF0|B4DQ45|Q8N6U6	Splice_Site	SNP	ENST00000396124.4	37	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177662	0.78564	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000519804	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9411	0.89027	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C8orf38	96116981	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.756000	0.91651	2.534000	0.85438	0.591000	0.81541	.	.		0.328	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416	Intron	T	96047805	G	T	96047805	5	4	13	1	0	0	0	0	0	0	1	0	2431	1275	44	3	431	3	C8orf38	8	96047805	Splice_Site	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	18272354	96047805	50316217	61	1807											
TRPS1	7227	hgsc.bcm.edu	37	8	116631413	116631413	+	Silent	SNP	C	C	T	rs372146914		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr8:116631413C>T	ENST00000220888.5	-	2	1032	c.873G>A	c.(871-873)ctG>ctA	p.L291L	TRPS1_ENST00000519674.1_Silent_p.L291L|TRPS1_ENST00000520276.1_Silent_p.L295L|TRPS1_ENST00000519076.1_Silent_p.L245L|TRPS1_ENST00000395715.3_Silent_p.L304L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	291					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)	p.L304L(2)|p.L291L(2)		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)			TGATGTCCTGCAGCACACCAG	0.418									Langer-Giedion syndrome																												p.L304L		.											TRPS1_ENST00000395715,NS,carcinoma,0,2	TRPS1_ENST00000395715	0	4	Substitution - coding silent(4)	lung(4)	c.G912A						.						90	83	85					8																	116631413		1911	4143	6054	SO:0001819	synonymous_variant	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	GTCCTGCAGCACA	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.873G>A	8.37:g.116631413C>T		57	0		36	3	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37																																																																																				.		0.418	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116631413	C	T	116631413	2	4	13	1	0	0	0	0	0	0	0	1	16641	697	25	3		3	TRPS1	8	116631413	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	20583608	116631413	29732609	62	1808											
TRIB1	10221	hgsc.bcm.edu	37	8	126445609	126445609	+	Silent	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr8:126445609G>T	ENST00000311922.3	+	2	993	c.411G>T	c.(409-411)ctG>ctT	p.L137L	TRIB1_ENST00000519576.1_5'Flank|TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1			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)			ACATCCAGCTGCCATCGCACA	0.502																																					p.L137L		.											TRIB1_ENST00000311922,NS,carcinoma,0,1	TRIB1_ENST00000311922	0	0			c.G411T						.						194	196	195					8																	126445609		2203	4300	6503	SO:0001819	synonymous_variant	10221	exon2			CCAGCTGCCATCG	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		ENST00000311922.3:c.411G>T	8.37:g.126445609G>T		31	0		34	3	NM_025195		Silent	SNP	ENST00000311922.3	37	CCDS6357.1																																																																																			.		0.502	TRIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381430.1	NM_025195		T	126445609	G	T	126445609	2	4	13	1	0	0	0	0	0	0	0	1	16530	1306	46	3		3	TRIB1	8	126445609	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	9814196	126445609	19918413	63	1809											
CNTNAP3	79937	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	39176053	39176053	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr9:39176053G>A	ENST00000297668.6	-	7	1037	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R322W|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R322W|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R322W|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R234W	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	322	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGAATGCCCGCGATCTTCCG	0.383																																					p.R322W													CNTNAP3,NS,carcinoma,+1,1	CNTNAP3	82	0			c.C964T						.						59	66	64					9																	39176053		2200	4297	6497	SO:0001583	missense	79937	exon7			ATGCCCGCGATCT	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.964C>T	9.37:g.39176053G>A	ENSP00000297668:p.Arg322Trp	180	0		125	22	NM_033655	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380800	0.24944	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	3.09	0.788	0.18601	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.75759	0.3893	N	0.12182	0.205	0.09310	N	1	D;B;B;D;D	0.63880	0.993;0.007;0.011;0.992;0.979	D;B;B;P;B	0.68621	0.959;0.013;0.001;0.792;0.401	T	0.68413	-0.5415	9	0.59425	D	0.04	.	12.2121	0.54386	0.0:0.7022:0.2978:0.0	.	322;322;322;322;322	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	W	322;322;234;322;322;234	ENSP00000297668:R322W;ENSP00000366884:R322W;ENSP00000350863:R234W;ENSP00000320728:R322W;ENSP00000366887:R322W	ENSP00000297668:R322W	R	-	1	2	CNTNAP3	39166053	0.284000	0.24287	0.000000	0.03702	0.043000	0.13939	0.653000	0.24902	0.152000	0.19188	0.460000	0.39030	CGG	.		0.383	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		A	39176053	G	A	39176053	3	1	13	1	0	0	0	0	1	0	0	0	3655	1086	38	1	2974	1	CNTNAP3	9	39176053	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		39176053	102037378	64	1810											
FLJ46321	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	84608503	84608503	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr9:84608503A>G	ENST00000344803.2	+	4	3165	c.3118A>G	c.(3118-3120)Aca>Gca	p.T1040A		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1040					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATTAGATTCAACAAGCTCATT	0.438																																					p.T1040A		.											.	.	.	0			c.A3118G						.						155	160	159					9																	84608503		1867	4099	5966	SO:0001583	missense	389763	exon4			GATTCAACAAGCT		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.3118A>G	9.37:g.84608503A>G	ENSP00000341988:p.Thr1040Ala	67	0		66	11	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	0.138	-1.105512	0.01828	.	.	ENSG00000214929	ENST00000344803	T	0.03635	3.86	1.36	-1.72	0.08107	.	.	.	.	.	T	0.01870	0.0059	N	0.12746	0.255	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.46205	-0.9208	9	0.36615	T	0.2	1.134	1.4795	0.02433	0.4562:0.0:0.2308:0.3129	.	1040	Q6ZQQ2	F75D1_HUMAN	A	1040	ENSP00000341988:T1040A	ENSP00000341988:T1040A	T	+	1	0	FAM75D1	83798323	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.214000	0.09292	-0.446000	0.07149	0.477000	0.44152	ACA	.		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84608503	A	G	84608503	3	3	13	1	0	0	0	0	1	0	0	0	5954	43	2	4	3132	4	FLJ46321	9	84608503	Missense_Mutation	SNP	A	TCGA-W5-AA2R-01A-11D-A417-09	45432450	84608503	56604928	65	1811											
PTPN3	5774	hgsc.bcm.edu;bcgsc.ca	37	9	112216792	112216792	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr9:112216792G>T	ENST00000374541.2	-	5	456	c.352C>A	c.(352-354)Cag>Aag	p.Q118K	PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	118	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						TGTTCTTGCTGCAGTGTGTTG	0.313																																					p.Q118K		.											.	.	.	0			c.C352A						.						151	157	155					9																	112216792		2203	4300	6503	SO:0001583	missense	5774	exon5			CTTGCTGCAGTGT		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.352C>A	9.37:g.112216792G>T	ENSP00000363667:p.Gln118Lys	73	0		64	4	NM_001145368	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029708	0.75504	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.77229	-1.08	5.67	5.67	0.87782	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	0.83741	0.5320	L	0.42008	1.315	0.80722	D	1	P;P	0.50443	0.759;0.935	P;P	0.61800	0.59;0.894	T	0.83162	-0.0098	10	0.49607	T	0.09	.	19.3642	0.94454	0.0:0.0:1.0:0.0	.	118;118	B7Z9V1;P26045	.;PTN3_HUMAN	K	118	ENSP00000363667:Q118K	ENSP00000363667:Q118K	Q	-	1	0	PTPN3	111256613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	2.689000	0.91719	0.462000	0.41574	CAG	.		0.313	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			T	112216792	G	T	112216792	3	4	13	1	0	0	0	0	1	0	0	0	12834	1328	46	3	2477	3	PTPN3	9	112216792	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	27608289	112216792	28996639	66	1812											
PPP6C	5537	hgsc.bcm.edu	37	9	127933372	127933372	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr9:127933372G>A	ENST00000373547.4	-	2	262	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	PPP6C_ENST00000415905.1_Missense_Mutation_p.H55Y|PPP6C_ENST00000451402.1_Missense_Mutation_p.H92Y|PPP6C_ENST00000373546.3_5'UTR	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	55					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACCTGTCCATGGATATCTCCA	0.378																																					p.H92Y		.											PPP6C_ENST00000451402,NS,malignant_melanoma,0,4	PPP6C_ENST00000451402	0	0			c.C274T						.						189	180	183					9																	127933372		2203	4300	6503	SO:0001583	missense	5537	exon3			GTCCATGGATATC	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.163C>T	9.37:g.127933372G>A	ENSP00000362648:p.His55Tyr	38	0		36	2	NM_001123355	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062242	0.93846	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000456642	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.02	6.02	0.97574	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.84211	0.5422	H	0.99689	4.705	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	0.90797	0.4691	10	0.87932	D	0	-21.5472	19.1045	0.93287	0.0:0.0:1.0:0.0	.	55;92;55	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	Y	55;92;55;43	ENSP00000362648:H55Y;ENSP00000392147:H92Y;ENSP00000411744:H55Y;ENSP00000416287:H43Y	ENSP00000362648:H55Y	H	-	1	0	PPP6C	126973193	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.672000	0.91181	2.865000	0.98341	0.655000	0.94253	CAT	.		0.378	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		A	127933372	G	A	127933372	3	1	13	1	0	0	0	0	1	0	0	0	12449	1348	47	3	778	3	PPP6C	9	127933372	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	15716580	127933372	13280059	67	1813											
USP20	10868	hgsc.bcm.edu	37	9	132642541	132642541	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr9:132642541C>T	ENST00000315480.4	+	25	2892	c.2734C>T	c.(2734-2736)Cgg>Tgg	p.R912W	USP20_ENST00000358355.1_Missense_Mutation_p.R912W|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.R912W			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	912					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)	p.R912W(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGCCGAGACGCGGGCCGTGTG	0.647																																					p.R912W		.											USP20_ENST00000372429,NS,carcinoma,0,2	USP20_ENST00000372429	0	2	Substitution - Missense(2)	endometrium(2)	c.C2734T						.						20	26	24					9																	132642541		2079	4207	6286	SO:0001583	missense	10868	exon25			GAGACGCGGGCCG	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.2734C>T	9.37:g.132642541C>T	ENSP00000313811:p.Arg912Trp	60	0		40	2	NM_001008563	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188203	0.38609	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.21191	2.02;2.02;2.02	5.14	5.14	0.70334	.	0.338156	0.31648	N	0.007292	T	0.28764	0.0713	M	0.72894	2.215	0.80722	D	1	B	0.17268	0.021	B	0.06405	0.002	T	0.08229	-1.0732	10	0.66056	D	0.02	.	17.5953	0.88010	0.0:1.0:0.0:0.0	.	912	Q9Y2K6	UBP20_HUMAN	W	912	ENSP00000361506:R912W;ENSP00000313811:R912W;ENSP00000351122:R912W	ENSP00000313811:R912W	R	+	1	2	USP20	131682362	0.990000	0.36364	0.990000	0.47175	0.011000	0.07611	2.946000	0.49050	2.382000	0.81193	0.655000	0.94253	CGG	.		0.647	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132642541	C	T	132642541	3	4	13	1	0	0	0	0	1	0	0	0	17101	759	27	1	2824	1	USP20	9	132642541	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	4709169	132642541	8570890	68	1814											
C9orf86	55684	hgsc.bcm.edu	37	9	139734309	139734309	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr9:139734309G>T	ENST00000311502.7	+	13	2158	c.1922G>T	c.(1921-1923)aGt>aTt	p.S641I	RABL6_ENST00000371675.3_Missense_Mutation_p.S526I|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Missense_Mutation_p.S642I|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	641					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AAGGAGAGCAGTGAGGAAGGT	0.682																																					p.S642I		.											.	.	.	0			c.G1925T						.						18	23	22					9																	139734309		1961	4127	6088	SO:0001583	missense	55684	exon13			AGAGCAGTGAGGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1922G>T	9.37:g.139734309G>T	ENSP00000311134:p.Ser641Ile	82	0		79	4	NM_001173988	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	.	12.03	1.815209	0.32053	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675;ENST00000435930	T;T;T;T	0.73681	-0.67;-0.68;-0.67;-0.77	4.72	4.72	0.59763	.	0.338891	0.33127	N	0.005251	D	0.82346	0.5017	M	0.71581	2.175	0.50813	D	0.999891	D;D;D	0.76494	0.999;0.997;0.994	D;D;P	0.72075	0.976;0.931;0.855	T	0.81636	-0.0843	10	0.40728	T	0.16	-14.0842	8.9208	0.35610	0.1028:0.0:0.8972:0.0	.	435;642;641	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	I	642;641;526;435	ENSP00000360727:S642I;ENSP00000311134:S641I;ENSP00000360740:S526I;ENSP00000408442:S435I	ENSP00000311134:S641I	S	+	2	0	C9orf86	138854130	1.000000	0.71417	0.169000	0.22859	0.034000	0.12701	6.146000	0.71777	2.162000	0.67917	0.561000	0.74099	AGT	.		0.682	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		T	139734309	G	T	139734309	3	4	13	1	0	0	0	0	1	0	0	0	2509	1029	36	3	2219	3	C9orf86	9	139734309	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	7091768	139734309	1479122	69	1815											
PPYR1	5540	hgsc.bcm.edu	37	10	47087274	47087274	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr10:47087274G>T	ENST00000395716.1	+	2	576	c.491G>T	c.(490-492)tGg>tTg	p.W164L	NPY4R_ENST00000374312.1_Missense_Mutation_p.W164L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	164					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)	p.W164*(1)									GTGCTCATCTGGGTCATTGCC	0.582																																					p.W164L		.											PPYR1,colon,carcinoma,0,2	PPYR1	0	1	Substitution - Nonsense(1)	ovary(1)	c.G491T						.						229	182	198					10																	47087274		2203	4300	6503	SO:0001583	missense	5540	exon3			TCATCTGGGTCAT		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.491G>T	10.37:g.47087274G>T	ENSP00000379066:p.Trp164Leu	52	0		42	3	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391274	0.83011	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	D;D	0.88741	-2.42;-2.42	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97729	1.0201	10	0.87932	D	0	.	16.0236	0.80522	0.0:0.0:1.0:0.0	.	164	P50391	NPY4R_HUMAN	L	164	ENSP00000363431:W164L;ENSP00000379066:W164L	ENSP00000363431:W164L	W	+	2	0	PPYR1	46507280	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.445000	0.97587	2.464000	0.83262	0.609000	0.83330	TGG	.		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			T	47087274	G	T	47087274	3	4	13	1	0	0	0	0	1	0	0	0	12458	1357	47	3	493	3	PPYR1	10	47087274	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		47087274	88447473	70	1816											
SLC6A5	9152	hgsc.bcm.edu	37	11	20660044	20660044	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:20660044G>A	ENST00000525748.1	+	13	2182	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	637					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)	CACCTATGCTGCCTCCTATGC	0.463																																					p.A637T		.											SLC6A5,NS,meningioma,0,1	SLC6A5	0	0			c.G1909A						.						398	315	343					11																	20660044		2203	4300	6503	SO:0001583	missense	9152	exon13			TATGCTGCCTCCT	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.1909G>A	11.37:g.20660044G>A	ENSP00000434364:p.Ala637Thr	35	0		31	2	NM_004211	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	37	5.989018	0.97179	.	.	ENSG00000165970	ENST00000525748	T	0.77877	-1.13	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87006	0.6070	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.87153	0.2210	10	0.87932	D	0	.	20.1	0.97870	0.0:0.0:1.0:0.0	.	637	Q9Y345	SC6A5_HUMAN	T	637	ENSP00000434364:A637T	ENSP00000434364:A637T	A	+	1	0	SLC6A5	20616620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.754000	0.98908	2.829000	0.97493	0.655000	0.94253	GCC	.		0.463	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		A	20660044	G	A	20660044	3	1	13	1	0	0	0	0	1	0	0	0	14732	1319	46	3	1959	3	SLC6A5	11	20660044	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		20660044	114346472	71	1817											
ARFGAP2	84364	hgsc.bcm.edu	37	11	47196591	47196591	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:47196591G>T	ENST00000524782.1	-	5	683	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Intron	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	152	Required for interaction with coatomer.				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)	p.S152F(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GAAGAAATCAGAGTCCTTCTT	0.473																																					p.S152Y		.											ARFGAP2,scalp,carcinoma,0,1	ARFGAP2	0	1	Substitution - Missense(1)	skin(1)	c.C455A						.						327	338	335					11																	47196591		2201	4298	6499	SO:0001583	missense	84364	exon5			AAATCAGAGTCCT	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.455C>A	11.37:g.47196591G>T	ENSP00000434442:p.Ser152Tyr	44	0		34	2	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802128	0.90538	.	.	ENSG00000149182	ENST00000524782;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.52	5.52	0.82312	.	0.246709	0.42172	D	0.000751	T	0.60715	0.2290	M	0.63428	1.95	0.80722	D	1	D;P	0.54397	0.966;0.621	P;B	0.52554	0.702;0.255	T	0.64428	-0.6410	10	0.87932	D	0	-12.5763	19.4741	0.94979	0.0:0.0:1.0:0.0	.	152;152	B7Z6H9;Q8N6H7	.;ARFG2_HUMAN	Y	152;152;152;152;145	ENSP00000434442:S152Y;ENSP00000431939:S152Y;ENSP00000434809:S152Y;ENSP00000431684:S152Y;ENSP00000435488:S145Y	ENSP00000434442:S152Y	S	-	2	0	ARFGAP2	47153167	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	6.034000	0.70933	2.595000	0.87683	0.655000	0.94253	TCT	.		0.473	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		T	47196591	G	T	47196591	3	4	13	1	0	0	0	0	1	0	0	0	850	942	33	3	1158	3	ARFGAP2	11	47196591	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	26536547	47196591	87809925	72	1818											
FNBP4	23360	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	47744682	47744682	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:47744682G>T	ENST00000263773.5	-	15	2663	c.2651C>A	c.(2650-2652)aCt>aAt	p.T884N		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	884						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						TGAGGGAGCAGTCACTCCAAT	0.542																																					p.T884N		.											.	.	.	0			c.C2651A						.						78	80	79					11																	47744682		2080	4202	6282	SO:0001583	missense	23360	exon15			GGAGCAGTCACTC	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.2651C>A	11.37:g.47744682G>T	ENSP00000263773:p.Thr884Asn	42	0		33	4	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083652	0.76642	.	.	ENSG00000109920	ENST00000263773	T	0.35421	1.31	5.21	5.21	0.72293	.	0.291643	0.38778	N	0.001579	T	0.39462	0.1079	L	0.56769	1.78	0.34892	D	0.74564	P	0.48764	0.915	B	0.42062	0.374	T	0.58934	-0.7548	10	0.62326	D	0.03	-8.0015	16.927	0.86179	0.0:0.0:1.0:0.0	.	884	Q8N3X1	FNBP4_HUMAN	N	884	ENSP00000263773:T884N	ENSP00000263773:T884N	T	-	2	0	FNBP4	47701258	1.000000	0.71417	0.915000	0.36163	0.932000	0.56968	6.125000	0.71627	2.435000	0.82474	0.555000	0.69702	ACT	.		0.542	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			T	47744682	G	T	47744682	3	4	13	1	0	0	0	0	1	0	0	0	5989	1029	36	3	414	3	FNBP4	11	47744682	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	548091	47744682	87261834	73	1819											
OR4C13	283092	hgsc.bcm.edu	37	11	49974531	49974531	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:49974531C>A	ENST00000555099.1	+	1	589	c.557C>A	c.(556-558)gCc>gAc	p.A186D		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	186						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						ATCAATCTTGCCTGCACTAAT	0.438																																					p.A186D		.											OR4C13,NS,carcinoma,0,1	OR4C13	0	0			c.C557A						.						232	205	214					11																	49974531		2201	4296	6497	SO:0001583	missense	283092	exon1			ATCTTGCCTGCAC	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.557C>A	11.37:g.49974531C>A	ENSP00000452277:p.Ala186Asp	51	0		60	3	NM_001001955	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	9.416	1.081806	0.20309	.	.	ENSG00000258817	ENST00000555099	T	0.00231	8.49	2.7	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.145928	0.31636	N	0.007304	T	0.00695	0.0023	H	0.97023	3.925	0.21386	N	0.999703	D	0.56521	0.976	D	0.65010	0.931	T	0.30208	-0.9986	9	.	.	.	.	7.2981	0.26405	0.0:0.8576:0.0:0.1424	.	186	Q8NGP0	OR4CD_HUMAN	D	186	ENSP00000452277:A186D	.	A	+	2	0	OR4C13	49931107	0.000000	0.05858	0.976000	0.42696	0.088000	0.18126	0.162000	0.16501	0.474000	0.27392	0.186000	0.17326	GCC	.		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		A	49974531	C	A	49974531	3	1	13	1	0	0	0	0	1	0	0	0	11086	739	26	3	559	3	OR4C13	11	49974531	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	2229849	49974531	85031985	74	1820											
OR4C15	81309	hgsc.bcm.edu	37	11	55321858	55321858	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:55321858C>A	ENST00000314644.2	+	1	76	c.76C>A	c.(76-78)Caa>Aaa	p.Q26K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						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						TATGATACCACAAATTGATCT	0.343										HNSCC(20;0.049)																											p.Q26K		.											.	.	.	0			c.C76A						.						148	147	147					11																	55321858		2201	4296	6497	SO:0001583	missense	81309	exon1			ATACCACAAATTG	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.76C>A	11.37:g.55321858C>A	ENSP00000324958:p.Gln26Lys	40	0		34	2	NM_001001920	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	7.210	0.595276	0.13875	.	.	ENSG00000181939	ENST00000314644	T	0.00000	9.93	4.85	-1.79	0.07932	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.01185	-1.1425	6	0.87932	D	0	.	5.1602	0.15056	0.0:0.3872:0.1656:0.4472	.	.	.	.	K	26	ENSP00000324958:Q26K	ENSP00000324958:Q26K	Q	+	1	0	OR4C15	55078434	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.315000	0.01124	-0.188000	0.10499	-0.532000	0.04303	CAA	.		0.343	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		A	55321858	C	A	55321858	3	1	13	1	0	0	0	0	1	0	0	0	11087	479	17	3	78	3	OR4C15	11	55321858	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	5347327	55321858	79684658	75	1821											
OR5D14	219436	hgsc.bcm.edu	37	11	55563503	55563503	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:55563503C>T	ENST00000335605.1	+	1	472	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	158						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(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CATGTTTGGCCCCTTGGTACT	0.493																																					p.P158S		.											OR5D14,right_upper_lobe,carcinoma,0,1	OR5D14	0	0			c.C472T						.						158	153	154					11																	55563503		2200	4296	6496	SO:0001583	missense	219436	exon1			TTTGGCCCCTTGG	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.472C>T	11.37:g.55563503C>T	ENSP00000334456:p.Pro158Ser	61	0		49	2	NM_001004735	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.915497	0.00055	.	.	ENSG00000186113	ENST00000335605	T	0.29142	1.58	4.94	0.825	0.18824	GPCR, rhodopsin-like superfamily (1);	0.155476	0.30383	N	0.009754	T	0.03520	0.0101	N	0.00037	-2.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41875	-0.9484	10	0.02654	T	1	-8.1045	5.2517	0.15524	0.1329:0.5573:0.0:0.3097	.	158	Q8NGL3	OR5DE_HUMAN	S	158	ENSP00000334456:P158S	ENSP00000334456:P158S	P	+	1	0	OR5D14	55320079	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-1.227000	0.02950	-0.107000	0.12088	-0.275000	0.10095	CCC	.		0.493	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		T	55563503	C	T	55563503	3	4	13	1	0	0	0	0	1	0	0	0	11194	623	22	3	474	3	OR5D14	11	55563503	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	241645	55563503	79443013	76	1822											
OSBP	5007	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	59361134	59361134	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:59361134G>T	ENST00000263847.1	-	9	2100	c.1621C>A	c.(1621-1623)Cag>Aag	p.Q541K	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	541					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTGATTTCCTGACGCAATGTC	0.458																																					p.Q541K		.											.	.	.	0			c.C1621A						.						144	125	131					11																	59361134		2201	4295	6496	SO:0001583	missense	5007	exon9			TTTCCTGACGCAA	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1621C>A	11.37:g.59361134G>T	ENSP00000263847:p.Gln541Lys	49	0		40	4	NM_002556	Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986175	0.97173	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.30448	1.53	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.92122	3.275	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.71148	-0.4677	10	0.52906	T	0.07	-25.3475	19.3923	0.94587	0.0:0.0:1.0:0.0	.	541	P22059	OSBP1_HUMAN	K	541;141	ENSP00000263847:Q541K	ENSP00000263847:Q541K	Q	-	1	0	OSBP	59117710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.674000	0.98633	2.882000	0.98803	0.655000	0.94253	CAG	.		0.458	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			T	59361134	G	T	59361134	3	4	13	1	0	0	0	0	1	0	0	0	11312	1299	45	3	826	3	OSBP	11	59361134	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	3797631	59361134	75645382	77	1823											
C11orf2	738	broad.mit.edu	37	11	64875830	64875830	+	Missense_Mutation	SNP	C	C	T	rs544293367		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:64875830C>T	ENST00000279281.3	+	5	979	c.887C>T	c.(886-888)cCg>cTg	p.P296L	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	296					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CCCTCACCTCCGGCTCCCGAC	0.697													C|||	1	0.000199681	0	0.0014	5008	,	,		12911	0		0	False		,,,				2504	0				p.P296L													.	.	.	0			c.C887T						.						17	20	19					11																	64875830		2197	4295	6492	SO:0001583	missense	738	exon5			CACCTCCGGCTCC	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.887C>T	11.37:g.64875830C>T	ENSP00000279281:p.Pro296Leu	9	0		3	2	NM_013265	Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	C	7.651	0.683011	0.14907	.	.	ENSG00000149823	ENST00000279281;ENST00000529180;ENST00000534557	T;T;T	0.78481	-1.18;-1.18;-1.18	5.11	4.13	0.48395	Cullin repeat-like-containing domain (1);	0.188625	0.46442	D	0.000299	T	0.62319	0.2418	L	0.27053	0.805	0.23271	N	0.998008	B	0.16396	0.017	B	0.08055	0.003	T	0.45160	-0.9280	9	.	.	.	-17.9623	10.0566	0.42248	0.2005:0.7995:0.0:0.0	.	296	Q9UID3	FFR_HUMAN	L	296;321;210	ENSP00000279281:P296L;ENSP00000435245:P321L;ENSP00000435691:P210L	.	P	+	2	0	C11orf2	64632406	0.557000	0.26546	0.653000	0.29593	0.536000	0.34869	4.157000	0.58144	2.386000	0.81285	0.549000	0.68633	CCG	.		0.697	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		T	64875830	C	T	64875830	3	4	13	1	0	0	0	0	1	0	0	0	1638	652	23	1	905	1	C11orf2	11	64875830	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	5514696	64875830	70130686	78	1824											
FAT3	120114	hgsc.bcm.edu	37	11	92087946	92087946	+	Missense_Mutation	SNP	G	G	T	rs374699170		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:92087946G>T	ENST00000298047.6	+	1	2685	c.2668G>T	c.(2668-2670)Gac>Tac	p.D890Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D890Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D740Y|FAT3_ENST00000541502.1_Missense_Mutation_p.D890Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	890	Cadherin 8. {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)				TTATGTAGCCGACCAGTTGGA	0.433										TCGA Ovarian(4;0.039)																											p.D890Y		.											FAT3_ENST00000409404,NS,carcinoma,0,2	FAT3_ENST00000409404	0	0			c.G2668T						.						103	98	100					11																	92087946		1911	4129	6040	SO:0001583	missense	120114	exon1			GTAGCCGACCAGT	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.2668G>T	11.37:g.92087946G>T	ENSP00000298047:p.Asp890Tyr	39	0		26	2	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	16.68	3.190301	0.58017	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52295	4.65;4.65;0.67;4.65	5.37	5.37	0.77165	.	.	.	.	.	T	0.63604	0.2525	L	0.49126	1.545	0.49299	D	0.999778	D	0.76494	0.999	D	0.67725	0.953	T	0.64542	-0.6383	9	0.59425	D	0.04	.	18.103	0.89512	0.0:0.0:1.0:0.0	.	890	Q8TDW7-3	.	Y	890;890;890;740	ENSP00000298047:D890Y;ENSP00000387040:D890Y;ENSP00000443786:D890Y;ENSP00000432586:D740Y	ENSP00000298047:D890Y	D	+	1	0	FAT3	91727594	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.954000	0.87848	2.526000	0.85167	0.467000	0.42956	GAC	.		0.433	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92087946	G	T	92087946	3	4	13	1	0	0	0	0	1	0	0	0	5713	1058	37	2	2670	2	FAT3	11	92087946	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	27212116	92087946	42918570	79	1825											
ANKK1	255239	bcgsc.ca	37	11	113270029	113270029	+	Silent	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr11:113270029G>T	ENST00000303941.3	+	8	1432	c.1338G>T	c.(1336-1338)ctG>ctT	p.L446L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	446							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)		CTGCGCGCCTGCTCCTGGACC	0.602																																					p.L446L													.	ANKK1	83	0			c.G1338T						.						20	24	22					11																	113270029		2125	4239	6364	SO:0001819	synonymous_variant	255239	exon8			GCGCCTGCTCCTG	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.1338G>T	11.37:g.113270029G>T		18	0		13	3	NM_178510		Silent	SNP	ENST00000303941.3	37	CCDS44734.1																																																																																			.		0.602	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		T	113270029	G	T	113270029	2	4	13	1	0	0	0	0	0	0	0	1	631	1306	46	3		3	ANKK1	11	113270029	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	21182083	113270029	21736487	80	1826											
PIK3C2G	5288	hgsc.bcm.edu	37	12	18443878	18443878	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr12:18443878C>A	ENST00000266497.5	+	3	889	c.851C>A	c.(850-852)tCt>tAt	p.S284Y	PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.S284Y|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S284Y|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S284Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	284					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)				CAGCTCTTTTCTAAGACCAAG	0.338																																					p.S284Y		.											PIK3C2G_ENST00000433979,NS,carcinoma,0,2	PIK3C2G_ENST00000433979	0	0			c.C851A						.						65	60	62					12																	18443878		1825	4078	5903	SO:0001583	missense	5288	exon4			TCTTTTCTAAGAC	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.851C>A	12.37:g.18443878C>A	ENSP00000266497:p.Ser284Tyr	51	0		39	2	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093956	0.36952	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.07	3.15	0.36227	Phosphoinositide 3-kinase, ras-binding (2);	1.907450	0.02223	N	0.064183	T	0.48714	0.1515	L	0.44542	1.39	0.09310	N	1	P;P;P	0.49253	0.921;0.904;0.921	P;P;P	0.49140	0.601;0.465;0.601	T	0.39563	-0.9608	10	0.66056	D	0.02	-0.5188	9.5906	0.39543	0.0:0.7126:0.2874:0.0	.	283;284;284	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	Y	284	ENSP00000443850:S284Y;ENSP00000404845:S284Y;ENSP00000266497:S284Y;ENSP00000445381:S284Y	ENSP00000266497:S284Y	S	+	2	0	PIK3C2G	18335145	0.021000	0.18746	0.023000	0.16930	0.037000	0.13140	0.304000	0.19228	1.217000	0.43442	0.644000	0.83932	TCT	.		0.338	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18443878	C	A	18443878	3	1	13	1	0	0	0	0	1	0	0	0	11950	913	32	3	861	3	PIK3C2G	12	18443878	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09		18443878	115408017	81	1827											
IAPP	3375	hgsc.bcm.edu	37	12	21526361	21526361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr12:21526361G>T	ENST00000240652.3	+	2	212	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000542023.1_Nonsense_Mutation_p.E26*|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000539393.1_Nonsense_Mutation_p.E26*|SLCO1A2_ENST00000307378.6_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	26					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						TACACCCATTGAAAGGTTGGT	0.348																																					p.E26X		.											.	.	.	0			c.G76T						.						131	125	127					12																	21526361		2203	4300	6503	SO:0001587	stop_gained	3375	exon2			CCCATTGAAAGGT		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"Endogenous ligands"	5329	protein-coding gene	gene with protein product	"amylin"	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.76G>T	12.37:g.21526361G>T	ENSP00000240652:p.Glu26*	90	0		65	4	NM_000415	Q0ZD87|Q14598	Nonsense_Mutation	SNP	ENST00000240652.3	37	CCDS8688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.122192|3.122192	0.56613|0.56613	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000542023;ENST00000537593|ENST00000535428	.|.	.|.	.|.	5.77|5.77	1.91|1.91	0.25777|0.25777	.|.	0.738768|.	0.12878|.	N|.	0.431678|.	.|T	.|0.49932	.|0.1586	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56032	.|-0.8046	.|3	0.38643|.	T|.	0.18|.	-0.1072|-0.1072	9.3961|9.3961	0.38404|0.38404	0.2804:0.0:0.7196:0.0|0.2804:0.0:0.7196:0.0	.|.	.|.	.|.	.|.	X|F	26|7	.|.	ENSP00000240652:E26X|.	E|L	+|+	1|3	0|2	IAPP|IAPP	21417628|21417628	0.556000|0.556000	0.26538|0.26538	0.007000|0.007000	0.13788|0.13788	0.014000|0.014000	0.08584|0.08584	0.862000|0.862000	0.27899|0.27899	0.080000|0.080000	0.16959|0.16959	-0.136000|-0.136000	0.14681|0.14681	GAA|TTG	.		0.348	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		T	21526361	G	T	21526361	4	4	13	1	0	0	0	0	0	1	0	0	7499	1291	45	3	78	3	IAPP	12	21526361	Nonsense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	3082483	21526361	112325534	82	1828											
RFX4	5992	hgsc.bcm.edu	37	12	107103190	107103190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr12:107103190C>T	ENST00000392842.1	+	9	1330	c.916C>T	c.(916-918)Cga>Tga	p.R306*	RFX4_ENST00000229387.5_Nonsense_Mutation_p.R212*|RFX4_ENST00000357881.4_Nonsense_Mutation_p.R315*|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		.											RFX4_ENST00000357881,NS,carcinoma,0,5	RFX4_ENST00000357881	0	2	Substitution - Nonsense(2)	large_intestine(2)	c.C943T						.						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*	53	0		46	2	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	.		0.398	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		T	107103190	C	T	107103190	4	4	13	1	0	0	0	0	0	1	0	0	13310	760	27	1	1123	1	RFX4	12	107103190	Nonsense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	85576829	107103190	26748705	83	1829											
TRPV4	59341	hgsc.bcm.edu	37	12	110252313	110252313	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr12:110252313G>A	ENST00000418703.2	-	1	383	c.289C>T	c.(289-291)Cct>Tct	p.P97S	TRPV4_ENST00000536570.1_5'Flank|TRPV4_ENST00000346520.2_Missense_Mutation_p.P97S|TRPV4_ENST00000536838.1_Missense_Mutation_p.P63S|TRPV4_ENST00000537083.1_Missense_Mutation_p.P97S|TRPV4_ENST00000541794.1_Missense_Mutation_p.P97S|TRPV4_ENST00000392719.2_Missense_Mutation_p.P97S|TRPV4_ENST00000261740.2_Missense_Mutation_p.P97S|TRPV4_ENST00000544971.1_Missense_Mutation_p.P97S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	97			P -> R (in DSMAC; loss of function mutation). {ECO:0000269|PubMed:22526352}.		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						TTGGGCCCAGGCACCACCGAG	0.567																																					p.P97S		.											TRPV4,NS,carcinoma,0,1	TRPV4	0	0			c.C289T						.						71	68	69					12																	110252313		2203	4300	6503	SO:0001583	missense	59341	exon1			GCCCAGGCACCAC	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.289C>T	12.37:g.110252313G>A	ENSP00000406191:p.Pro97Ser	30	0		32	2	NM_001177433	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877283	0.51801	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91351	-2.72;-2.72;-2.68;-2.83;-2.73;-2.83;-2.68;-2.71	3.68	3.68	0.42216	.	0.415319	0.26418	N	0.024484	D	0.83603	0.5290	L	0.27053	0.805	0.25104	N	0.990767	P;B;P;B;B	0.43578	0.811;0.016;0.48;0.013;0.027	B;B;B;B;B	0.40534	0.332;0.007;0.188;0.011;0.015	T	0.75736	-0.3213	10	0.32370	T	0.25	.	12.1598	0.54098	0.0:0.0:1.0:0.0	.	97;97;97;97;63	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	S	97;97;97;97;97;97;97;63	ENSP00000406191:P97S;ENSP00000261740:P97S;ENSP00000376480:P97S;ENSP00000319003:P97S;ENSP00000443611:P97S;ENSP00000442738:P97S;ENSP00000442167:P97S;ENSP00000444336:P63S	ENSP00000261740:P97S	P	-	1	0	TRPV4	108736696	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.125000	0.89590	1.615000	0.50252	0.465000	0.42564	CCT	.		0.567	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110252313	G	A	110252313	3	1	13	1	0	0	0	0	1	0	0	0	16646	1203	42	3	2386	3	TRPV4	12	110252313	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	3149123	110252313	23599582	84	1830											
NOS1	4842	hgsc.bcm.edu	37	12	117660627	117660627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr12:117660627G>A	ENST00000338101.4	-	26	3974	c.3970C>T	c.(3970-3972)Caa>Taa	p.Q1324*	NOS1_ENST00000317775.6_Nonsense_Mutation_p.Q1290*|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)		ATCTTGGATTGCCGGCACCCG	0.572																																					p.Q1324X	Esophageal Squamous(162;1748 2599 51982 52956)	.											NOS1,middle_lobe,carcinoma,0,1	NOS1	0	0			c.C3970T						.						101	102	102					12																	117660627		1946	4123	6069	SO:0001587	stop_gained	4842	exon27			TGGATTGCCGGCA		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.3970C>T	12.37:g.117660627G>A	ENSP00000337459:p.Gln1324*	58	0		36	2	NM_001204218		Nonsense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	47	13.880061	0.99768	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	.	.	.	3.98	3.98	0.46160	.	0.059761	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-20.1743	12.5133	0.56017	0.0:0.1681:0.8319:0.0	.	.	.	.	X	1185;1290;1324	.	ENSP00000320758:Q1290X	Q	-	1	0	NOS1	116145010	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	6.284000	0.72652	2.209000	0.71365	0.655000	0.94253	CAA	.		0.572	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117660627	G	A	117660627	4	1	13	1	0	0	0	0	0	1	0	0	10580	1328	46	3	452	3	NOS1	12	117660627	Nonsense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	7408314	117660627	16191268	85	1831											
POLE	5426	hgsc.bcm.edu	37	12	133202250	133202250	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr12:133202250G>T	ENST00000320574.5	-	47	6681	c.6638C>A	c.(6637-6639)gCc>gAc	p.A2213D	POLE_ENST00000535270.1_Missense_Mutation_p.A2186D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2213			A -> V (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		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)	p.A2213V(1)		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)	CAGGGTGAAGGCCATCAGCTT	0.637								DNA polymerases (catalytic subunits)																													p.A2213D		.											POLE,colon,carcinoma,0,1	POLE	0	1	Substitution - Missense(1)	large_intestine(1)	c.C6638A						.						142	132	136					12																	133202250		2203	4300	6503	SO:0001583	missense	5426	exon47			GTGAAGGCCATCA		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.6638C>A	12.37:g.133202250G>T	ENSP00000322570:p.Ala2213Asp	27	0		25	2	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943953	0.73672	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.22539	1.95;1.95;1.95	5.74	5.74	0.90152	.	0.102125	0.64402	D	0.000002	T	0.32675	0.0837	M	0.79926	2.475	0.54753	D	0.999983	P;P	0.43973	0.738;0.823	B;B	0.39027	0.288;0.254	T	0.26916	-1.0089	10	0.54805	T	0.06	.	19.919	0.97077	0.0:0.0:1.0:0.0	.	2213;423	Q07864;B3KS74	DPOE1_HUMAN;.	D	423;2213;2224;128;2186	ENSP00000322570:A2213D;ENSP00000406383:A2224D;ENSP00000445753:A2186D	ENSP00000322473:A128D	A	-	2	0	POLE	131712323	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.318000	0.79029	2.712000	0.92718	0.561000	0.74099	GCC	.		0.637	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133202250	G	T	133202250	3	4	13	1	0	0	0	0	1	0	0	0	12235	1203	42	3	234	3	POLE	12	133202250	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	15541623	133202250	649645	86	1832											
DIAPH3	81624	hgsc.bcm.edu;bcgsc.ca	37	13	60498918	60498918	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr13:60498918G>T	ENST00000400324.4	-	18	2381	c.2161C>A	c.(2161-2163)Cag>Aag	p.Q721K	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.Q675K|DIAPH3_ENST00000377908.2_Missense_Mutation_p.Q710K|DIAPH3_ENST00000400319.1_Missense_Mutation_p.Q651K|DIAPH3_ENST00000267215.4_Missense_Mutation_p.Q721K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.Q721K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	721	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		CAAAGGTTCTGGGCAATTTTA	0.279																																					p.Q721K		.											.	.	.	0			c.C2161A						.						46	47	47					13																	60498918		1781	4047	5828	SO:0001583	missense	81624	exon18			GGTTCTGGGCAAT	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.2161C>A	13.37:g.60498918G>T	ENSP00000383178:p.Gln721Lys	71	0		76	4	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	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703346	0.88924	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.67	5.67	0.87782	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.88979	2.995	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.97110	0.987;1.0;0.994	T	0.62992	-0.6736	10	0.87932	D	0	.	18.3448	0.90318	0.0:0.0:1.0:0.0	.	458;458;721	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	K	721;721;710;675;651;710;651;675;721;458;721	ENSP00000383178:Q721K;ENSP00000383184:Q721K;ENSP00000367141:Q710K;ENSP00000383173:Q651K;ENSP00000383174:Q675K;ENSP00000267215:Q721K	ENSP00000267214:Q458K	Q	-	1	0	DIAPH3	59396919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.875000	0.75551	2.660000	0.90430	0.650000	0.86243	CAG	.		0.279	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60498918	G	T	60498918	3	4	13	1	0	0	0	0	1	0	0	0	4534	1357	47	3	1484	3	DIAPH3	13	60498918	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		60498918	54670960	87	1833											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36094620	36094620	+	Silent	SNP	C	C	T	rs200815371		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr14:36094620C>T	ENST00000389698.3	-	34	5748	c.5358G>A	c.(5356-5358)ctG>ctA	p.L1786L	RALGAPA1_ENST00000382366.3_Silent_p.L1799L|RALGAPA1_ENST00000307138.6_Silent_p.L1786L|RALGAPA1_ENST00000258840.6_Silent_p.L1833L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1786	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				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						CATTTTTCTTCAGGAGATGAA	0.373																																					p.L1786L		.											RALGAPA1_ENST00000307138,NS,carcinoma,0,2	RALGAPA1_ENST00000307138	0	0			c.G5358A						.						103	110	107					14																	36094620		2203	4298	6501	SO:0001819	synonymous_variant	253959	exon34			TTTCTTCAGGAGA	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.5358G>A	14.37:g.36094620C>T		52	0		34	2	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	CCDS32065.1																																																																																			0.001		0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		T	36094620	C	T	36094620	2	4	13	1	0	0	0	0	0	0	0	1	13058	813	29	3		3	RALGAPA1	14	36094620	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09		36094620	71254920	88	1834											
C14orf37	145407	hgsc.bcm.edu	37	14	58604812	58604812	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr14:58604812G>A	ENST00000267485.7	-	2	1459	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	422						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						GGTGGATTCCGTGAAGTCTCC	0.438																																					p.T422M		.											C14orf37,NS,adenoma,0,1	C14orf37	0	0			c.C1265T						.						88	86	87					14																	58604812		2203	4300	6503	SO:0001583	missense	145407	exon2			GATTCCGTGAAGT		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.1265C>T	14.37:g.58604812G>A	ENSP00000267485:p.Thr422Met	49	0		36	3	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133105	0.21041	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.19806	2.12	5.86	-4.7	0.03288	.	1.059670	0.07288	N	0.871966	T	0.06508	0.0167	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.29253	0.239;0.117;0.239;0.239	B;B;B;B	0.18263	0.021;0.021;0.021;0.021	T	0.29243	-1.0018	10	0.36615	T	0.2	1.84	3.8087	0.08788	0.5168:0.1039:0.2754:0.1038	.	460;422;422;422	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	M	422;460	ENSP00000267485:T422M	ENSP00000267485:T422M	T	-	2	0	C14orf37	57674565	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.066000	0.14489	-0.787000	0.04510	-0.136000	0.14681	ACG	.		0.438	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		A	58604812	G	A	58604812	3	1	13	1	0	0	0	0	1	0	0	0	1776	1145	40	1	1087	1	C14orf37	14	58604812	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	22510192	58604812	48744728	89	1835											
AHNAK2	113146	hgsc.bcm.edu	37	14	105412163	105412163	+	Missense_Mutation	SNP	C	C	G	rs201181175		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	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		.											AHNAK2_ENST00000333244,NS,carcinoma,0,1	AHNAK2_ENST00000333244	0	0			c.G9625C						.						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	32	1		36	3	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	.		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	13	1	0	0	0	0	1	0	0	0	415	536	19	5	7766	5	AHNAK2	14	105412163	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	46807351	105412163	1937377	90	1836											
AVEN	57099	hgsc.bcm.edu	37	15	34295319	34295319	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr15:34295319C>T	ENST00000306730.3	-	2	488	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	120					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)		p.R120Q(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ATCTTGATATCGATCCCAGTT	0.403																																					p.R120Q		.											AVEN,rectum,carcinoma,0,1	AVEN	0	1	Substitution - Missense(1)	large_intestine(1)	c.G359A						.						152	131	138					15																	34295319		2201	4298	6499	SO:0001583	missense	57099	exon2			TGATATCGATCCC	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"cell death regulator aven", "programmed cell death 12"	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.359G>A	15.37:g.34295319C>T	ENSP00000306822:p.Arg120Gln	44	0		47	2	NM_020371		Missense_Mutation	SNP	ENST00000306730.3	37	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607775	0.87258	.	.	ENSG00000169857	ENST00000306730	T	0.59502	0.26	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77197	-0.2676	10	0.72032	D	0.01	-7.548	17.1238	0.86709	0.0:1.0:0.0:0.0	.	120	Q9NQS1	AVEN_HUMAN	Q	120	ENSP00000306822:R120Q	ENSP00000306822:R120Q	R	-	2	0	AVEN	32082611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.373000	0.66162	2.357000	0.79964	0.591000	0.81541	CGA	.		0.403	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		T	34295319	C	T	34295319	3	4	13	1	0	0	0	0	1	0	0	0	1227	884	31	1	749	1	AVEN	15	34295319	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09		34295319	68236073	91	1837											
UBR1	197131	hgsc.bcm.edu	37	15	43322177	43322177	+	Missense_Mutation	SNP	G	G	A	rs375913511		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr15:43322177G>A	ENST00000290650.4	-	21	2422	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	UBR1_ENST00000382177.2_Missense_Mutation_p.P782S	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	782					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)	p.P782S(1)		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)		GCACTGTGTGGCATGGGTTCA	0.388																																					p.P782S		.											UBR1,NS,carcinoma,0,1	UBR1	0	1	Substitution - Missense(1)	kidney(1)	c.C2344T						.	G	SER/PRO	0,4406		0,0,2203	217	194	202		2344	4.9	1	15		202	1,8597	1.2+/-3.3	0,1,4298	no	missense	UBR1	NM_174916.2	74	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	782/1750	43322177	1,13003	2203	4299	6502	SO:0001583	missense	197131	exon21			TGTGTGGCATGGG		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.2344C>T	15.37:g.43322177G>A	ENSP00000290650:p.Pro782Ser	47	0		29	3	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897516	0.33535	0.0	1.16E-4	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.38560	1.13;1.13	4.95	4.95	0.65309	.	0.053880	0.64402	D	0.000001	T	0.19565	0.0470	N	0.11064	0.09	0.44447	D	0.997371	B;B	0.30406	0.021;0.278	B;B	0.24974	0.008;0.057	T	0.11203	-1.0597	10	0.02654	T	1	-16.8028	12.6609	0.56813	0.0:0.304:0.696:0.0	.	782;782	B4DYL2;Q8IWV7	.;UBR1_HUMAN	S	782	ENSP00000290650:P782S;ENSP00000371612:P782S	ENSP00000290650:P782S	P	-	1	0	UBR1	41109469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.370000	0.73114	2.580000	0.87095	0.561000	0.74099	CCA	.		0.388	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		A	43322177	G	A	43322177	3	1	13	1	0	0	0	0	1	0	0	0	16950	1203	42	3	3013	3	UBR1	15	43322177	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	9026858	43322177	59209215	92	1838											
TP53BP1	7158	hgsc.bcm.edu	37	15	43714161	43714161	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr15:43714161C>T	ENST00000263801.3	-	19	4229	c.3977G>A	c.(3976-3978)aGc>aAc	p.S1326N	TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1331N|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1331N|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1331N	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1326					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)		GCTTCCACTGCTGTGCATAGC	0.592								Other conserved DNA damage response genes																													p.S1331N		.											TP53BP1,colon,carcinoma,0,1	TP53BP1	0	0			c.G3992A						.						102	95	97					15																	43714161		2201	4298	6499	SO:0001583	missense	7158	exon19			CCACTGCTGTGCA	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.3977G>A	15.37:g.43714161C>T	ENSP00000263801:p.Ser1326Asn	38	0		42	2	NM_001141980	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657140	0.88154	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.05382	3.5;3.5;3.45;3.5	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.27053	0.805	0.58432	D	0.999993	D;D;D;D	0.89917	0.993;0.999;1.0;1.0	D;D;D;D	0.85130	0.968;0.994;0.997;0.997	T	0.03240	-1.1057	10	0.34782	T	0.22	-9.141	20.2216	0.98326	0.0:1.0:0.0:0.0	.	1331;1326;1331;1331	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	N	1326;1331;1331;1331	ENSP00000263801:S1326N;ENSP00000371475:S1331N;ENSP00000371470:S1331N;ENSP00000393497:S1331N	ENSP00000263801:S1326N	S	-	2	0	TP53BP1	41501453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.212000	0.58514	2.860000	0.98153	0.655000	0.94253	AGC	.		0.592	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			T	43714161	C	T	43714161	3	4	13	1	0	0	0	0	1	0	0	0	16431	797	28	3	1981	3	TP53BP1	15	43714161	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	391984	43714161	58817231	93	1839											
SPG11	80208	hgsc.bcm.edu	37	15	44888451	44888451	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr15:44888451G>T	ENST00000261866.7	-	25	4280	c.4264C>A	c.(4264-4266)Caa>Aaa	p.Q1422K	SPG11_ENST00000535302.2_Missense_Mutation_p.Q1422K|SPG11_ENST00000558319.1_Missense_Mutation_p.Q1422K|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1422K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1422					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)		TTGCAGACTTGATCGCTGTCC	0.478																																					p.Q1422K		.											SPG11,NS,lymphoid_neoplasm,0,1	SPG11	0	0			c.C4264A						.						120	121	120					15																	44888451		2198	4298	6496	SO:0001583	missense	80208	exon25			AGACTTGATCGCT		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.4264C>A	15.37:g.44888451G>T	ENSP00000261866:p.Gln1422Lys	46	0		35	2	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.591301	0.00864	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77750	-1.12;-1.12;-1.12	4.93	4.0	0.46444	.	1.069680	0.07184	N	0.854537	T	0.71962	0.3402	L	0.51422	1.61	0.22961	N	0.998501	B;B;B	0.27068	0.082;0.053;0.167	B;B;B	0.28011	0.058;0.022;0.085	T	0.55055	-0.8200	10	0.09338	T	0.73	.	11.1983	0.48726	0.0:0.1849:0.8151:0.0	.	1422;1422;1422	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	K	1422	ENSP00000261866:Q1422K;ENSP00000445278:Q1422K;ENSP00000396110:Q1422K	ENSP00000261866:Q1422K	Q	-	1	0	SPG11	42675743	0.636000	0.27207	0.015000	0.15790	0.074000	0.17049	3.420000	0.52735	1.276000	0.44395	0.655000	0.94253	CAA	.		0.478	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			T	44888451	G	T	44888451	3	4	13	1	0	0	0	0	1	0	0	0	15088	1299	45	3	3131	3	SPG11	15	44888451	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	1174290	44888451	57642941	94	1840											
TRIM69	140691	hgsc.bcm.edu;bcgsc.ca	37	15	45059569	45059569	+	Silent	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr15:45059569C>T	ENST00000559390.1	+	8	2030	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	TRIM69_ENST00000338264.4_Silent_p.L209L|TRIM69_ENST00000558329.1_Silent_p.L147L|TRIM69_ENST00000560442.1_Silent_p.L164L|TRIM69_ENST00000329464.4_Silent_p.L368L|TRIM69_ENST00000561043.1_Silent_p.L131L|TRIM69_ENST00000558173.1_Silent_p.L164L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	368	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGTGGCTGTACTGGGCTCAAG	0.463																																					p.L368L	Pancreas(84;519 1450 1802 20427 34706)	.											.	.	.	0			c.C1102T						.						136	138	138					15																	45059569		2198	4298	6496	SO:0001819	synonymous_variant	140691	exon7			GCTGTACTGGGCT	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1102C>T	15.37:g.45059569C>T		71	0		61	4	NM_182985	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	CCDS32220.1																																																																																			.		0.463	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			T	45059569	C	T	45059569	2	4	13	1	0	0	0	0	0	0	0	1	16590	564	20	3		3	TRIM69	15	45059569	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	171118	45059569	57471823	95	1841											
MAP2K1	5604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	66729174	66729174	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr15:66729174G>C	ENST00000307102.5	+	3	913	c.382G>C	c.(382-384)Ggc>Cgc	p.G128R		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> V (in CFC3). {ECO:0000269|PubMed:18042262}.		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)	GTACATCGTGGGCTTCTATGG	0.512																																					p.G128R		.											.	.	.	0			c.G382C						.						178	135	150					15																	66729174		2201	4299	6500	SO:0001583	missense	5604	exon3			ATCGTGGGCTTCT	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.382G>C	15.37:g.66729174G>C	ENSP00000302486:p.Gly128Arg	45	0		34	9	NM_002755		Missense_Mutation	SNP	ENST00000307102.5	37	CCDS10216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.192125|5.192125	0.94923|0.94923	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000425818|ENST00000307102	.|D	.|0.92545	.|-3.06	5.15|5.15	5.15|5.15	0.70609|0.70609	.|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|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89942|0.89942	0.6861|0.6861	N|N	0.02275|0.02275	-0.615|-0.615	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.78314	.|0.979;0.991	D|D	0.92511|0.92511	0.6016|0.6016	6|10	.|0.41790	.|T	.|0.15	-19.2098|-19.2098	18.6564|18.6564	0.91455|0.91455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|106;128	.|B4DFY5;Q02750	.|.;MP2K1_HUMAN	A|R	67|128	.|ENSP00000302486:G128R	.|ENSP00000302486:G128R	G|G	+|+	2|1	0|0	MAP2K1|MAP2K1	64516228|64516228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	9.723000|9.723000	0.98772|0.98772	2.385000|2.385000	0.81259|0.81259	0.655000|0.655000	0.94253|0.94253	GGG|GGC	.		0.512	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			C	66729174	G	C	66729174	3	2	13	1	0	0	0	0	1	0	0	0	9274	1232	43	5	392	5	MAP2K1	15	66729174	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	21669605	66729174	35802218	96	1842											
PRSS33	260429	broad.mit.edu	37	16	2835911	2835911	+	Missense_Mutation	SNP	C	C	A	rs373423015		TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr16:2835911C>A	ENST00000293851.5	-	3	290	c.131G>T	c.(130-132)cGg>cTg	p.R44L	PRSS33_ENST00000576886.1_Missense_Mutation_p.R44L|PRSS33_ENST00000570702.1_Missense_Mutation_p.R44L	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						CTCTCCGTCCCGGCCATCCCG	0.711																																					p.R44L	NSCLC(194;489 2153 16702 19171 27758)												.	PRSS33	7	0			c.G131T						.						10	14	13					16																	2835911		2001	4132	6133	SO:0001583	missense	260429	exon3			CCGTCCCGGCCAT	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.131G>T	16.37:g.2835911C>A	ENSP00000293851:p.Arg44Leu	46	0		38	3	NM_152891	A6NNQ3|Q8N171	Missense_Mutation	SNP	ENST00000293851.5	37	CCDS42110.1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038885	0.08148	.	.	ENSG00000103355	ENST00000293851	D	0.88975	-2.45	4.39	-3.84	0.04256	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.826457	0.10433	N	0.675317	T	0.73179	0.3554	N	0.05487	-0.04	0.09310	N	1	B	0.13145	0.007	B	0.20577	0.03	T	0.58312	-0.7658	10	0.27785	T	0.31	.	7.536	0.27710	0.0:0.233:0.1351:0.6319	.	44	Q8NF86	PRS33_HUMAN	L	44	ENSP00000293851:R44L	ENSP00000293851:R44L	R	-	2	0	PRSS33	2775912	0.000000	0.05858	0.002000	0.10522	0.103000	0.19146	-1.169000	0.03120	-0.917000	0.03813	-0.675000	0.03792	CGG	.		0.711	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436446.1	NM_152891		A	2835911	C	A	2835911	3	1	13	1	0	0	0	0	1	0	0	0	12665	652	23	2	727	2	PRSS33	16	2835911	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09		2835911	87518842	97	1843											
SEC14L5	9717	ucsc.edu	37	16	5046986	5046986	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr16:5046986G>T	ENST00000251170.7	+	8	1091	c.911G>T	c.(910-912)tGg>tTg	p.W304L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	304						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						CTTCAGACCTGGCAACCCCCT	0.602																																					p.W304L													.	SEC14L5	79	0			c.G911T						.						33	33	33					16																	5046986		1936	4105	6041	SO:0001583	missense	9717	exon8			AGACCTGGCAACC	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.911G>T	16.37:g.5046986G>T	ENSP00000251170:p.Trp304Leu	16	0		27	4	NM_014692		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719207	0.89205	.	.	ENSG00000103184	ENST00000251170	T	0.60171	0.21	4.66	4.66	0.58398	Cellular retinaldehyde-binding/triple function, C-terminal (1);Phosphatidylinositol transfer protein-like, N-terminal (1);	0.198882	0.36409	N	0.002608	T	0.62109	0.2401	L	0.58101	1.795	0.80722	D	1	P	0.47484	0.896	P	0.46362	0.514	T	0.68957	-0.5272	10	0.87932	D	0	-7.9771	18.0897	0.89471	0.0:0.0:1.0:0.0	.	304	O43304	S14L5_HUMAN	L	304	ENSP00000251170:W304L	ENSP00000251170:W304L	W	+	2	0	SEC14L5	4986987	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.099000	0.94207	2.573000	0.86826	0.491000	0.48974	TGG	.		0.602	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			T	5046986	G	T	5046986	3	4	13	1	0	0	0	0	1	0	0	0	14030	1357	47	3	937	3	SEC14L5	16	5046986	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	2211075	5046986	85307767	98	1844											
RABEP2	79874	broad.mit.edu	37	16	28936433	28936435	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr16:28936433_28936435delGCC	ENST00000358201.4	-	1	638_640	c.50_52delGGC	c.(49-54)cggccg>ccg	p.R17del	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.R17del|RABEP2_ENST00000544477.1_In_Frame_Del_p.R17del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	17					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						CCAGCCCCCGgccgccgccgccg	0.744																																					p.17_18del	Pancreas(66;639 1284 10093 31061 49099)												.	RABEP2	48	0			c.50_52del						.			6,1818		2,2,908						-0.3	0			3	18,4526		5,8,2259	no	coding	RABEP2	NM_024816.2		7,10,3167	A1A1,A1R,RR		0.3961,0.3289,0.3769				24,6344				SO:0001651	inframe_deletion	79874	exon1			CCCCCGGCCGCCG	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.50_52delGGC	16.37:g.28936442_28936444delGCC	ENSP00000350934:p.Arg17del	13	0		6	2	NM_024816		In_Frame_Del	DEL	ENST00000358201.4	37	CCDS42140.1																																																																																			.		0.744	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		-	28936435	GCC	-	28936433	7	5	13	1	0	1	0	1	0	0	0	0	13007	1203	42	0	1709	0	RABEP2	16	28936433	In_Frame_Del	DEL	GCC	TCGA-W5-AA2R-01A-11D-A417-09	23889447	28936433	61418320	99	1845											
HSF4	3299	hgsc.bcm.edu	37	16	67200473	67200473	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr16:67200473C>A	ENST00000521374.1	+	6	574	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	HSF4_ENST00000421453.1_Missense_Mutation_p.L192I|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.L192I|HSF4_ENST00000264009.8_Missense_Mutation_p.L192I			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	192	Hydrophobic repeat HR-A/B.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L192F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GATCCAGTGTCTCTTTGGGCC	0.562																																					p.L192I		.											HSF4,NS,carcinoma,0,1	HSF4	0	1	Substitution - Missense(1)	cervix(1)	c.C574A						.						56	63	61					16																	67200473		1909	4136	6045	SO:0001583	missense	3299	exon8			CAGTGTCTCTTTG	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.574C>A	16.37:g.67200473C>A	ENSP00000430947:p.Leu192Ile	47	0		39	2	NM_001538	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.244485|3.244485	0.59103|0.59103	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729|ENST00000517750	.|.	.|.	.|.	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	0.176099|.	0.42964|.	D|.	0.000630|.	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	P;D|.	0.56521|.	0.663;0.976|.	B;P|.	0.50049|.	0.403;0.629|.	T|T	0.55354|0.55354	-0.8154|-0.8154	9|5	0.46703|.	T|.	0.11|.	-14.9759|-14.9759	15.7826|15.7826	0.78272|0.78272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	192;192|.	Q9ULV5-2;Q9ULV5|.	.;HSF4_HUMAN|.	I|Y	192;192;192;192;129|38	.|.	ENSP00000264009:L192I|.	L|S	+|+	1|2	0|0	HSF4|HSF4	65757974|65757974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.806000|5.806000	0.69150|0.69150	2.255000|2.255000	0.74692|0.74692	0.563000|0.563000	0.77884|0.77884	CTC|TCT	.		0.562	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		A	67200473	C	A	67200473	3	1	13	1	0	0	0	0	1	0	0	0	7425	913	32	3	596	3	HSF4	16	67200473	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	38264040	67200473	23154280	100	1846											
BCL6B	255877	hgsc.bcm.edu	37	17	6928019	6928019	+	Missense_Mutation	SNP	C	C	G	rs146207245|rs55799550	byFrequency	TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr17:6928019C>G	ENST00000293805.5	+	4	793	c.701C>G	c.(700-702)tCc>tGc	p.S234C		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	234	Ser-rich.				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						GACGAGGCCTCcagcagcagc	0.592																																					p.S234C		.											.,22	.	85	0			c.C701G						.						17	22	20					17																	6928019		2097	4186	6283	SO:0001583	missense	255877	exon4			AGGCCTCCAGCAG	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.701C>G	17.37:g.6928019C>G	ENSP00000293805:p.Ser234Cys	34	0		23	0	NM_181844	Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854566	0.32791	.	.	ENSG00000161940	ENST00000293805	T	0.08807	3.05	5.18	4.19	0.49359	.	0.565883	0.16303	N	0.220362	T	0.06872	0.0175	N	0.22421	0.69	0.23735	N	0.996983	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	10	0.49607	T	0.09	.	11.2513	0.49028	0.0:0.8073:0.1927:0.0	.	234	Q8N143	BCL6B_HUMAN	C	234	ENSP00000293805:S234C	ENSP00000293805:S234C	S	+	2	0	BCL6B	6868743	0.071000	0.21146	0.857000	0.33713	0.641000	0.38312	1.290000	0.33319	1.368000	0.46115	0.655000	0.94253	TCC	.		0.592	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		G	6928019	C	G	6928019	3	3	13	1	0	0	0	0	1	0	0	0	1378	855	30	5	711	5	BCL6B	17	6928019	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09		6928019	74267191	101	1847											
DNAH2	146754	ucsc.edu;bcgsc.ca	37	17	7661812	7661812	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr17:7661812G>T	ENST00000572933.1	+	14	3511		c.e14-1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						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)				CTTATGCACAGGATTATTGCC	0.498																																					.													.	DNAH2	498	0			c.2052-1G>T						.						150	150	150					17																	7661812		2203	4300	6503	SO:0001630	splice_region_variant	146754	exon13			TGCACAGGATTAT	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.2052-1G>T	17.37:g.7661812G>T		22	0		19	4	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056946	0.76074	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0726	0.93145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH2	7602537	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	8.559000	0.90708	2.809000	0.96659	0.555000	0.69702	.	.		0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Intron	T	7661812	G	T	7661812	5	4	13	1	0	0	0	0	0	0	1	0	4616	1014	35	3	2101	3	DNAH2	17	7661812	Splice_Site	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	733793	7661812	73533398	102	1848											
TMIGD1	388364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	28643709	28643709	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr17:28643709C>A	ENST00000328886.4	-	7	858		c.e7-1		TMIGD1_ENST00000538566.2_Splice_Site	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1							integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GCTTTCTCATCTGAAATGAAT	0.318																																					.		.											.	.	.	0			c.786-1G>T						.						79	78	79					17																	28643709		2203	4300	6503	SO:0001630	splice_region_variant	388364	exon8			TCTCATCTGAAAT	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.786-1G>T	17.37:g.28643709C>A		55	0		39	11	NM_206832	A8K2K1|Q6ZMC6	Splice_Site	SNP	ENST00000328886.4	37	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511798	0.64522	.	.	ENSG00000182271	ENST00000328886	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8494	0.70284	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMIGD1	25667835	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.434000	0.52841	2.785000	0.95823	0.655000	0.94253	.	.		0.318	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832	Intron	A	28643709	C	A	28643709	5	1	13	1	0	0	0	0	0	0	1	0	16277	927	32	3	7	3	TMIGD1	17	28643709	Splice_Site	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	20981897	28643709	52551501	103	1849											
LASP1	3927	hgsc.bcm.edu;broad.mit.edu	37	17	37071356	37071356	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr17:37071356C>T	ENST00000318008.6	+	6	900	c.569C>T	c.(568-570)gCa>gTa	p.A190V	LASP1_ENST00000433206.2_Missense_Mutation_p.A134V|LASP1_ENST00000435347.3_Missense_Mutation_p.A190V	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	190					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						AAGGAGCCTGCAGCCCCAGTC	0.657			T	MLL	AML																																p.A190V		.		Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	.	.	.	0			c.C569T						.						54	59	57					17																	37071356		2203	4300	6503	SO:0001583	missense	3927	exon6			AGCCTGCAGCCCC		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.569C>T	17.37:g.37071356C>T	ENSP00000325240:p.Ala190Val	73	0		74	4	NM_006148	B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234110	0.58886	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347;ENST00000419929	T;T;T;T	0.28454	1.61;1.61;1.61;2.34	5.25	4.28	0.50868	Src homology-3 domain (1);	0.307474	0.34932	N	0.003569	T	0.21145	0.0509	L	0.29908	0.895	0.41681	D	0.989298	B;B	0.11235	0.004;0.001	B;B	0.12837	0.008;0.002	T	0.05115	-1.0905	10	0.13108	T	0.6	.	12.3807	0.55305	0.0:0.9176:0.0:0.0824	.	134;190	B4DGQ0;Q14847	.;LASP1_HUMAN	V	190;134;190;154	ENSP00000325240:A190V;ENSP00000401048:A134V;ENSP00000392853:A190V;ENSP00000391897:A154V	ENSP00000325240:A190V	A	+	2	0	LASP1	34324882	0.985000	0.35326	0.996000	0.52242	0.985000	0.73830	2.906000	0.48735	1.197000	0.43143	0.561000	0.74099	GCA	.		0.657	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		T	37071356	C	T	37071356	3	4	13	1	0	0	0	0	1	0	0	0	8665	710	25	3	591	3	LASP1	17	37071356	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	8427647	37071356	44123854	104	1850											
C17orf53	78995	hgsc.bcm.edu;broad.mit.edu	37	17	42232260	42232260	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr17:42232260C>T	ENST00000319977.4	+	7	1838	c.1601C>T	c.(1600-1602)aCg>aTg	p.T534M	C17orf53_ENST00000245382.6_Missense_Mutation_p.T458M|C17orf53_ENST00000585683.1_Missense_Mutation_p.T533M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	534										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)		CTGCTGGAGACGTGCCAGAAT	0.607																																					p.T534M		.											C17orf53,colon,carcinoma,0,1	C17orf53	0	0			c.C1601T						.						80	67	72					17																	42232260		2203	4300	6503	SO:0001583	missense	78995	exon7			TGGAGACGTGCCA	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.1601C>T	17.37:g.42232260C>T	ENSP00000313500:p.Thr534Met	7	0		7	3	NM_024032	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332117	0.60853	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.48836	0.8;0.87	5.69	3.59	0.41128	.	0.318221	0.32372	N	0.006196	T	0.59662	0.2210	M	0.66939	2.045	0.27671	N	0.946779	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.67103	0.949;0.931;0.949	T	0.53049	-0.8493	10	0.72032	D	0.01	-3.4396	6.4023	0.21646	0.3376:0.5688:0.0:0.0936	.	533;458;534	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	M	534;458	ENSP00000313500:T534M;ENSP00000245382:T458M	ENSP00000245382:T458M	T	+	2	0	C17orf53	39587786	0.985000	0.35326	0.629000	0.29254	0.807000	0.45602	2.743000	0.47442	1.417000	0.47077	0.455000	0.32223	ACG	.		0.607	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		T	42232260	C	T	42232260	3	4	13	1	0	0	0	0	1	0	0	0	1868	536	19	1	1627	1	C17orf53	17	42232260	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	5160904	42232260	38962950	105	1851											
C17orf57	124989	hgsc.bcm.edu	37	17	45412686	45412686	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr17:45412686C>T	ENST00000331493.2	+	5	566	c.155C>T	c.(154-156)cCg>cTg	p.P52L	EFCAB13_ENST00000520802.1_Intron|EFCAB13_ENST00000517484.1_Missense_Mutation_p.P52L|ITGB3_ENST00000560629.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	52						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.P52L(1)									GAAATTTCACCGGAAATTAGG	0.303																																					p.P52L		.											C17orf57,colon,carcinoma,0,1	C17orf57	0	1	Substitution - Missense(1)	large_intestine(1)	c.C155T						.						55	57	56					17																	45412686		2202	4298	6500	SO:0001583	missense	124989	exon5			TTTCACCGGAAAT	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.155C>T	17.37:g.45412686C>T	ENSP00000332111:p.Pro52Leu	82	0		57	3	NM_152347	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	c	13.24	2.179026	0.38511	.	.	ENSG00000178852	ENST00000331493;ENST00000519772;ENST00000517484;ENST00000344176	T;T	0.75367	-0.26;-0.93	2.77	0.7	0.18099	.	1.160920	0.06802	N	0.788920	T	0.78181	0.4243	L	0.54323	1.7	0.09310	N	0.999998	D;D;D	0.76494	0.997;0.999;0.991	P;P;P	0.61477	0.623;0.889;0.485	T	0.61496	-0.7051	9	.	.	.	0.0609	3.4404	0.07461	0.2714:0.5877:0.0:0.1409	.	52;52;52	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	L	52	ENSP00000332111:P52L;ENSP00000430048:P52L	.	P	+	2	0	C17orf57	42767685	0.992000	0.36948	0.131000	0.22000	0.034000	0.12701	0.888000	0.28268	0.216000	0.20781	-0.127000	0.14921	CCG	.		0.303	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		T	45412686	C	T	45412686	3	4	13	1	0	0	0	0	1	0	0	0	1871	652	23	1	161	1	C17orf57	17	45412686	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	3180426	45412686	35782524	106	1852											
CA10	56934	hgsc.bcm.edu	37	17	49825140	49825140	+	Silent	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr17:49825140G>T	ENST00000285273.4	-	5	1429	c.318C>A	c.(316-318)tcC>tcA	p.S106S	CA10_ENST00000451037.2_Silent_p.S106S|CA10_ENST00000442502.2_Silent_p.S106S|CA10_ENST00000570565.1_Silent_p.S31S|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Silent_p.S112S	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	106					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)	CCAGGCGAAGGGATACGTGTC	0.542																																					p.S106S		.											CA10,NS,malignant_melanoma,0,2	CA10	0	0			c.C318A						.						144	129	134					17																	49825140		2203	4300	6503	SO:0001819	synonymous_variant	56934	exon5			GCGAAGGGATACG	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.318C>A	17.37:g.49825140G>T		48	0		38	2	NM_001082534	B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	CCDS32684.1																																																																																			.		0.542	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		T	49825140	G	T	49825140	2	4	13	1	0	0	0	0	0	0	0	1	2518	1219	43	3		3	CA10	17	49825140	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	4412454	49825140	31370070	107	1853											
TGIF1	7050	broad.mit.edu	37	18	3447749	3447749	+	Silent	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr18:3447749G>A	ENST00000548489.2	+	1	143	c.12G>A	c.(10-12)tcG>tcA	p.S4S	TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000577543.1_5'Flank|TGIF1_ENST00000405385.3_5'Flank|TGIF1_ENST00000551402.1_5'Flank|TGIF1_ENST00000407501.2_5'Flank|TGIF1_ENST00000343820.5_5'Flank	NM_173207.1	NP_775299.1	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	0					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)				TGACTTGCTCGGGCAAAAGTT	0.483																																					p.S4S													.	TGIF1	41	0			c.G12A						.						128	119	122					18																	3447749		2203	4300	6503	SO:0001819	synonymous_variant	7050	exon1			TTGCTCGGGCAAA	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	ENST00000548489.2:c.12G>A	18.37:g.3447749G>A		29	0		35	4	NM_173207	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Silent	SNP	ENST00000548489.2	37	CCDS11832.1																																																																																			.		0.483	TGIF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254366.4	NM_170695		A	3447749	G	A	3447749	2	1	13	1	0	0	0	0	0	0	0	1	15872	1103	39	1		1	TGIF1	18	3447749	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		3447749	74629499	108	1854											
ATG4D	84971	hgsc.bcm.edu	37	19	10657598	10657598	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr19:10657598C>A	ENST00000309469.4	+	4	750	c.577C>A	c.(577-579)Cgc>Agc	p.R193S	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	193					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.R193C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGGGCCTGCCCGCTGGATGCC	0.716																																					p.R193S		.											ATG4D,caecum,carcinoma,0,2	ATG4D	0	1	Substitution - Missense(1)	lung(1)	c.C577A						.						17	18	18					19																	10657598		2193	4286	6479	SO:0001583	missense	84971	exon4			CCTGCCCGCTGGA	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.577C>A	19.37:g.10657598C>A	ENSP00000311318:p.Arg193Ser	41	0		42	2	NM_032885	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248174	0.39697	.	.	ENSG00000130734	ENST00000309469	.	.	.	5.12	1.76	0.24704	.	0.736852	0.13331	N	0.395954	T	0.18045	0.0433	N	0.15975	0.35	0.09310	N	0.999999	B;B;B	0.15719	0.001;0.014;0.0	B;B;B	0.20184	0.007;0.028;0.004	T	0.29366	-1.0014	9	0.15066	T	0.55	-11.4652	5.8508	0.18691	0.0:0.6214:0.1374:0.2411	.	130;216;193	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	S	193	.	ENSP00000311318:R193S	R	+	1	0	ATG4D	10518598	0.000000	0.05858	0.326000	0.25389	0.947000	0.59692	-0.007000	0.12810	0.554000	0.29061	0.561000	0.74099	CGC	.		0.716	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		A	10657598	C	A	10657598	3	1	13	1	0	0	0	0	1	0	0	0	1100	652	23	2	591	2	ATG4D	19	10657598	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09		10657598	48471385	109	1855											
ZNF569	148266	hgsc.bcm.edu;bcgsc.ca	37	19	37904891	37904891	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr19:37904891G>T	ENST00000316950.6	-	6	1226	c.669C>A	c.(667-669)ttC>ttA	p.F223L	ZNF569_ENST00000392150.2_Missense_Mutation_p.F64L|ZNF569_ENST00000392149.2_Missense_Mutation_p.F223L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	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)			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)			CCTTGTGACTGAAGGCTTTTC	0.348																																					p.F223L		.											.	.	.	0			c.C669A						.						62	66	65					19																	37904891		2202	4300	6502	SO:0001583	missense	148266	exon6			GTGACTGAAGGCT	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.669C>A	19.37:g.37904891G>T	ENSP00000325018:p.Phe223Leu	68	0		49	4	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631547	0.46944	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.41065	1.01;1.01	3.73	-0.339	0.12647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38897	N	0.001521	T	0.59878	0.2226	M	0.84156	2.68	0.33027	D	0.529674	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.65631	-0.6121	10	0.62326	D	0.03	.	7.5415	0.27742	0.5074:0.0:0.4926:0.0	.	64;223	Q17RR6;Q5MCW4	.;ZN569_HUMAN	L	223;64	ENSP00000325018:F223L;ENSP00000375993:F64L	ENSP00000325018:F223L	F	-	3	2	ZNF569	42596731	0.004000	0.15560	0.089000	0.20774	0.991000	0.79684	-0.003000	0.12901	-0.082000	0.12640	0.591000	0.81541	TTC	.		0.348	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		T	37904891	G	T	37904891	3	4	13	1	0	0	0	0	1	0	0	0	18048	1281	45	3	1395	3	ZNF569	19	37904891	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	27247293	37904891	21224092	110	1856											
BCAM	4059	bcgsc.ca	37	19	45315768	45315768	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr19:45315768A>C	ENST00000270233.6	+	4	489	c.467A>C	c.(466-468)aAa>aCa	p.K156T	BCAM_ENST00000589651.1_Missense_Mutation_p.K156T	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	156	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)				TCCCCCAACAAAGGGACACTG	0.652																																					p.K156T													.	BCAM	53	0			c.A467C						.						69	57	61					19																	45315768		2203	4300	6503	SO:0001583	missense	4059	exon4			CCAACAAAGGGAC	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.467A>C	19.37:g.45315768A>C	ENSP00000270233:p.Lys156Thr	50	0		18	3	NM_001013257	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	1.841	-0.467318	0.04476	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.76316	-1.01;-1.01	3.79	-4.71	0.03279	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60766	0.2294	L	0.38175	1.15	0.22933	N	0.998542	B	0.10296	0.003	B	0.11329	0.006	T	0.42749	-0.9433	9	0.17369	T	0.5	-1.2077	6.6015	0.22703	0.372:0.1515:0.4765:0.0	.	156	P50895	BCAM_HUMAN	T	156	ENSP00000270233:K156T;ENSP00000375817:K156T	ENSP00000270233:K156T	K	+	2	0	BCAM	50007608	0.000000	0.05858	0.532000	0.27989	0.449000	0.32228	-1.386000	0.02537	-1.444000	0.01950	-0.736000	0.03550	AAA	.		0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		C	45315768	A	C	45315768	3	2	13	1	0	0	0	0	1	0	0	0	1345	14	1	4	481	4	BCAM	19	45315768	Missense_Mutation	SNP	A	TCGA-W5-AA2R-01A-11D-A417-09	7410877	45315768	13813215	111	1857											
ZNF468	90333	hgsc.bcm.edu	37	19	53344781	53344781	+	Nonsense_Mutation	SNP	G	G	A	rs531943295	byFrequency	TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr19:53344781G>A	ENST00000595646.1	-	4	886	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Nonsense_Mutation_p.R203*|ZNF468_ENST00000396409.4_Nonsense_Mutation_p.R203*|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	256					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)		GCAAGGTATCGCTTCTGATTA	0.383													-|||	2	0.000399361	0	0	5008	,	,		20990	0		0	False		,,,				2504	0.002				p.R256X		.											.	.	.	0			c.C766T						.						125	109	114					19																	53344781		2203	4300	6503	SO:0001587	stop_gained	90333	exon4			GGTATCGCTTCTG	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.766C>T	19.37:g.53344781G>A	ENSP00000470381:p.Arg256*	76	0		52	4	NM_001008801	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Nonsense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	a	20.1	3.933102	0.73442	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	.	.	.	1.94	-3.59	0.04583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	0.3942	0.00415	0.4192:0.1632:0.1493:0.2683	.	.	.	.	X	256;203;203;6	.	ENSP00000243639:R256X	R	-	1	2	ZNF468	58036593	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.218000	0.09240	-0.450000	0.07107	0.174000	0.16983	CGA	.		0.383	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		A	53344781	G	A	53344781	4	1	13	1	0	0	0	0	0	1	0	0	17976	1095	38	1	806	1	ZNF468	19	53344781	Nonsense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	8029013	53344781	5784202	112	1858											
KRTAP13-2	337959	hgsc.bcm.edu	37	21	31744209	31744209	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr21:31744209C>T	ENST00000399889.2	-	1	348	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	108						intermediate filament (GO:0005882)		p.R108P(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GCCCAGGGAGCGGCAGCTGCT	0.607																																					p.R108H		.											KRTAP13-2,rectum,carcinoma,0,2	KRTAP13-2	0	1	Substitution - Missense(1)	lung(1)	c.G323A						.						48	49	48					21																	31744209		2203	4300	6503	SO:0001583	missense	337959	exon1			AGGGAGCGGCAGC	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.323G>A	21.37:g.31744209C>T	ENSP00000382777:p.Arg108His	33	0		27	2	NM_181621		Missense_Mutation	SNP	ENST00000399889.2	37	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	0.766	-0.767386	0.02974	.	.	ENSG00000182816	ENST00000399889	T	0.03358	3.96	4.48	1.15	0.20763	.	1.529090	0.04771	N	0.427941	T	0.03477	0.0100	L	0.37466	1.105	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48293	-0.9048	10	0.13470	T	0.59	.	3.7238	0.08467	0.0:0.5126:0.1994:0.288	.	108	Q52LG2	KR132_HUMAN	H	108	ENSP00000382777:R108H	ENSP00000382777:R108H	R	-	2	0	KRTAP13-2	30666080	0.000000	0.05858	0.001000	0.08648	0.695000	0.40330	-1.349000	0.02627	0.068000	0.16574	-0.251000	0.11542	CGC	.		0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			T	31744209	C	T	31744209	3	4	13	1	0	0	0	0	1	0	0	0	8550	768	27	1	208	1	KRTAP13-2	21	31744209	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09		31744209	16385686	113	1859											
MORC3	23515	broad.mit.edu	37	21	37747505	37747505	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr21:37747505G>T	ENST00000400485.1	+	17	2807	c.2731G>T	c.(2731-2733)Gat>Tat	p.D911Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	911					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						GCCTGATCTTGATCTTCAGCA	0.358																																					p.D911Y													.	MORC3	78	0			c.G2731T						.						168	156	160					21																	37747505		1934	4142	6076	SO:0001583	missense	23515	exon17			GATCTTGATCTTC	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.2731G>T	21.37:g.37747505G>T	ENSP00000383333:p.Asp911Tyr	64	0		65	3	NM_015358	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864516	0.51482	.	.	ENSG00000159256	ENST00000400485	T	0.20463	2.07	5.77	3.96	0.45880	.	0.165136	0.51477	D	0.000085	T	0.33411	0.0862	M	0.61703	1.905	0.48135	D	0.99959	D	0.55385	0.971	P	0.57502	0.822	T	0.05835	-1.0861	10	0.87932	D	0	-21.3004	6.5877	0.22630	0.0685:0.13:0.6664:0.1351	.	911	Q14149	MORC3_HUMAN	Y	911	ENSP00000383333:D911Y	ENSP00000383333:D911Y	D	+	1	0	MORC3	36669375	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	4.145000	0.58065	0.788000	0.33755	0.585000	0.79938	GAT	.		0.358	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		T	37747505	G	T	37747505	3	4	13	1	0	0	0	0	1	0	0	0	9741	1290	45	3	2797	3	MORC3	21	37747505	Missense_Mutation	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	6003296	37747505	10382390	114	1860											
BRWD1	54014	hgsc.bcm.edu	37	21	40668258	40668258	+	Silent	SNP	G	G	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr21:40668258G>T	ENST00000333229.2	-	6	708	c.381C>A	c.(379-381)gcC>gcA	p.A127A	BRWD1_ENST00000380800.3_Silent_p.A127A|BRWD1_ENST00000342449.3_Silent_p.A127A|BRWD1_ENST00000470108.1_5'Flank	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	127					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)		p.A127>?(2)		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)				GAGCAGCAAAGGCAGAGCCCT	0.393																																					p.A127A	Melanoma(170;988 1986 4794 16843 39731)	.											.,2	.	325	2	Complex(2)	skin(2)	c.C381A						.						115	116	116					21																	40668258		2203	4300	6503	SO:0001819	synonymous_variant	54014	exon6			AGCAAAGGCAGAG	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.381C>A	21.37:g.40668258G>T		97	0		85	4	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1																																																																																			.		0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		T	40668258	G	T	40668258	2	4	13	1	0	0	0	0	0	0	0	1	1529	987	35	3		3	BRWD1	21	40668258	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09	2920753	40668258	7461637	115	1861											
DSCAM	1826	broad.mit.edu	37	21	41452122	41452122	+	Silent	SNP	T	T	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chr21:41452122T>C	ENST00000400454.1	-	25	4854	c.4377A>G	c.(4375-4377)ccA>ccG	p.P1459P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1459	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)				TTATGCGCCCTGGGCCCACTC	0.463																																					p.P1459P	Melanoma(134;970 1778 1785 21664 32388)												.	DSCAM	347	0			c.A4377G						.						154	145	148					21																	41452122		1874	4120	5994	SO:0001819	synonymous_variant	1826	exon25			GCGCCCTGGGCCC	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.4377A>G	21.37:g.41452122T>C		29	0		36	3	NM_001271534	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																			.		0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		C	41452122	T	C	41452122	2	2	13	1	0	0	0	0	0	0	0	1	4782	1567	55	4		4	DSCAM	21	41452122	Silent	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	783864	41452122	6677773	116	1862											
ARSD	414	hgsc.bcm.edu	37	X	2825480	2825480	+	Silent	SNP	G	G	A			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chrX:2825480G>A	ENST00000381154.1	-	10	1689	c.1614C>T	c.(1612-1614)caC>caT	p.H538H	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	538					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)				CTATCACGGCGTGGTACAGGG	0.647																																					p.H538H		.											.	.	.	0			c.C1614T						.						25	23	24					X																	2825480		2203	4300	6503	SO:0001819	synonymous_variant	414	exon10			CACGGCGTGGTAC	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.1614C>T	X.37:g.2825480G>A		87	0		88	4	NM_001669	Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																			.		0.647	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2825480	G	A	2825480	2	1	13	1	0	0	0	0	0	0	0	1	990	1136	40	1		1	ARSD	23	2825480	Silent	SNP	G	TCGA-W5-AA2R-01A-11D-A417-09		2825480	152445080	117	1863											
MAOB	4129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	43652720	43652720	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chrX:43652720C>T	ENST00000378069.4	-	8	1021	c.874G>A	c.(874-876)Ggt>Agt	p.G292S	MAOB_ENST00000536181.1_Missense_Mutation_p.G276S|MAOB_ENST00000538942.1_Missense_Mutation_p.G276S	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	292					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	ATGACTGAACCCAAAGGCACA	0.398																																					p.G292S		.											.	.	.	0			c.G874A						.						98	83	88					X																	43652720		2203	4300	6503	SO:0001583	missense	4129	exon8			CTGAACCCAAAGG		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.874G>A	X.37:g.43652720C>T	ENSP00000367309:p.Gly292Ser	90	0		56	13	NM_000898	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385803	0.95967	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.55930	0.49;0.49;0.49	5.97	5.97	0.96955	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	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	T	0.81897	-0.0722	10	0.66056	D	0.02	-14.7718	19.371	0.94484	0.0:1.0:0.0:0.0	.	276;292	B7Z5H3;P27338	.;AOFB_HUMAN	S	292;276;276	ENSP00000367309:G292S;ENSP00000441613:G276S;ENSP00000442240:G276S	ENSP00000367309:G292S	G	-	1	0	MAOB	43537664	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.326000	0.79133	2.527000	0.85204	0.600000	0.82982	GGT	.		0.398	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		T	43652720	C	T	43652720	3	4	13	1	0	0	0	0	1	0	0	0	9264	623	22	3	720	3	MAOB	23	43652720	Missense_Mutation	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	40827240	43652720	111617840	118	1864											
SHROOM4	57477	hgsc.bcm.edu	37	X	50350731	50350731	+	Silent	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chrX:50350731C>T	ENST00000289292.7	-	6	3694	c.3411G>A	c.(3409-3411)gaG>gaA	p.E1137E	SHROOM4_ENST00000460112.3_Silent_p.E1021E|SHROOM4_ENST00000376020.2_Silent_p.E1137E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1137	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)					cttcttcttcctcctcctcct	0.557																																					p.E1137E		.											.	.	.	0			c.G3411A						.						15	14	15					X																	50350731		2203	4298	6501	SO:0001819	synonymous_variant	57477	exon6			TTCTTCCTCCTCC	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.3411G>A	X.37:g.50350731C>T		20	0		12	4	NM_020717	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			.		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50350731	C	T	50350731	2	4	13	1	0	0	0	0	0	0	0	1	14341	680	24	3		3	SHROOM4	23	50350731	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	6698011	50350731	104919829	119	1865	8	2									
SHROOM4	57477	hgsc.bcm.edu	37	X	50350734	50350734	+	Silent	SNP	C	C	T			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chrX:50350734C>T	ENST00000289292.7	-	6	3691	c.3408G>A	c.(3406-3408)gaG>gaA	p.E1136E	SHROOM4_ENST00000460112.3_Silent_p.E1020E|SHROOM4_ENST00000376020.2_Silent_p.E1136E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1136	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)					cttcttcctcctcctcctcct	0.567																																					p.E1136E		.											.	.	.	0			c.G3408A						.						15	14	15					X																	50350734		2203	4298	6501	SO:0001819	synonymous_variant	57477	exon6			TTCCTCCTCCTCC	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.3408G>A	X.37:g.50350734C>T		18	0		11	4	NM_020717	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			.		0.567	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50350734	C	T	50350734	2	4	13	1	0	0	0	0	0	0	0	1	14341	680	24	3		3	SHROOM4	23	50350734	Silent	SNP	C	TCGA-W5-AA2R-01A-11D-A417-09	3	50350734	104919826	120	1866	8	2									
AGTR2	186	broad.mit.edu;bcgsc.ca	37	X	115303767	115303767	+	Silent	SNP	T	T	C			TCGA-W5-AA2R-01A-11D-A417-09	TCGA-W5-AA2R-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	800521c7-a4a8-4184-aed7-573d0b99c23a	0562fd1a-2435-4350-8e46-6d7036ae748c	g.chrX:115303767T>C	ENST00000371906.4	+	3	424	c.234T>C	c.(232-234)gtT>gtC	p.V78V		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	78					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)	CTAAAAAGGTTTCTAGCATAT	0.363																																					p.V78V													.	AGTR2	62	0			c.T234C						.						209	199	202					X																	115303767		2203	4300	6503	SO:0001819	synonymous_variant	186	exon3			AAAGGTTTCTAGC	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.234T>C	X.37:g.115303767T>C		41	0		22	3	NM_000686	B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	CCDS14569.1																																																																																			.		0.363	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		C	115303767	T	C	115303767	2	2	13	1	0	0	0	0	0	0	0	1	402	1828	64	4		4	AGTR2	23	115303767	Silent	SNP	T	TCGA-W5-AA2R-01A-11D-A417-09	64953033	115303767	39966793	121	1867											
OPRD1	4985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	29189631	29189631	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:29189631G>A	ENST00000234961.2	+	3	1197	c.955G>A	c.(955-957)Gct>Act	p.A319T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	319					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)	CGTGCTCTACGCTTTCCTCGA	0.687																																					p.A319T		.											OPRD1,colon,carcinoma,0,1	OPRD1	0	0			c.G955A						.						26	24	25					1																	29189631		2203	4299	6502	SO:0001583	missense	4985	exon3			CTCTACGCTTTCC	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.955G>A	1.37:g.29189631G>A	ENSP00000234961:p.Ala319Thr	46	0		14	10	NM_000911	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191468	0.78902	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.38240	1.15	4.06	4.06	0.47325	.	0.122362	0.56097	D	0.000037	T	0.36276	0.0961	M	0.69358	2.11	0.80722	D	1	P	0.38729	0.644	B	0.34346	0.18	T	0.47169	-0.9138	10	0.87932	D	0	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	319	P41143	OPRD_HUMAN	T	319;271	ENSP00000234961:A319T	ENSP00000234961:A319T	A	+	1	0	OPRD1	29062218	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.539000	0.98076	2.097000	0.63578	0.462000	0.41574	GCT	.		0.687	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		A	29189631	G	A	29189631	3	1	14	1	0	0	0	0	1	0	0	0	10923	1087	38	1	965	1	OPRD1	1	29189631	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		29189631	220060990	1	1868											
CYP4A11	1579	hgsc.bcm.edu;bcgsc.ca	37	1	47395907	47395907	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:47395907C>T	ENST00000310638.4	-	12	1471	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	CYP4A11_ENST00000462347.1_Silent_p.L382L|CYP4A11_ENST00000371904.4_Silent_p.L481L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	480					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)	GATCAGGCAGCAGCTCAAAGC	0.547																																					p.L480L		.											.	.	.	0			c.G1440A						.						131	117	122					1																	47395907		2203	4300	6503	SO:0001819	synonymous_variant	1579	exon12			AGGCAGCAGCTCA	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.1440G>A	1.37:g.47395907C>T		113	0		52	4	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	CCDS543.1																																																																																			.		0.547	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		T	47395907	C	T	47395907	2	4	14	1	0	0	0	0	0	0	0	1	4192	697	25	3		3	CYP4A11	1	47395907	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	18206276	47395907	201854714	2	1869											
PODN	127435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	53535704	53535704	+	Silent	SNP	C	C	T	rs143779530		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:53535704C>T	ENST00000312553.5	+	2	328	c.321C>T	c.(319-321)ccC>ccT	p.P107P	PODN_ENST00000395871.2_Silent_p.P107P|PODN_ENST00000371500.3_Silent_p.P88P|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	59					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						CTGAGGAGCCCGGGCCTGGCC	0.687																																					p.P107P		.											.	.	.	0			c.C321T						.	C	,,,	0,4406		0,0,2203	25	30	29		264,264,321,321	-8.4	0	1	dbSNP_134	29	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	,,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,,	88/643,88/643,107/520,107/662	53535704	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	127435	exon2			GGAGCCCGGGCCT	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.321C>T	1.37:g.53535704C>T		102	0		81	44	NM_153703	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	CCDS573.1																																																																																			0.000		0.687	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53535704	C	T	53535704	2	4	14	1	0	0	0	0	0	0	0	1	12217	639	23	1		1	PODN	1	53535704	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	6139797	53535704	195714917	3	1870											
LRRC7	57554	broad.mit.edu	37	1	70504282	70504282	+	Silent	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:70504282T>C	ENST00000035383.5	+	19	2691	c.2661T>C	c.(2659-2661)ccT>ccC	p.P887P	LRRC7_ENST00000415775.2_Silent_p.P171P|LRRC7_ENST00000310961.5_Silent_p.P892P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	887						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						TACCTAGTCCTTTTTCTCCAG	0.443																																					p.P887P													.	LRRC7	400	0			c.T2661C						.						73	76	75					1																	70504282		2203	4300	6503	SO:0001819	synonymous_variant	57554	exon19			TAGTCCTTTTTCT		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.2661T>C	1.37:g.70504282T>C		41	0		43	3	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																			.		0.443	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70504282	T	C	70504282	2	2	14	1	0	0	0	0	0	0	0	1	9055	1596	56	4		4	LRRC7	1	70504282	Silent	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09	16968578	70504282	178746339	4	1871											
TNNI3K	100144878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	74957851	74957851	+	Intron	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:74957851A>G	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_Missense_Mutation_p.N852S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.N751S|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.N865S			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TGCCTGGTGAACCGGGGAGGA	0.493																																					p.N852S		.											.	.	.	0			c.A2555G						.						194	196	195					1																	74957851		2203	4300	6503	SO:0001627	intron_variant	100526835	exon25			TGGTGAACCGGGG			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8792T>C	1.37:g.74957851A>G		121	0		74	24	NM_001112808		Missense_Mutation	SNP	ENST00000294635.4	37		.	.	.	.	.	.	.	.	.	.	A	0.850	-0.739036	0.03088	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.73575	-0.76;-0.76;-0.75	5.59	0.281	0.15687	.	0.273746	0.41097	N	0.000948	T	0.15955	0.0384	N	0.02539	-0.55	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42999	-0.9418	10	0.02654	T	1	.	7.1999	0.25874	0.2979:0.1717:0.5304:0.0	.	751;852	Q59H18;Q59H18-1	TNI3K_HUMAN;.	S	852;852;751	ENSP00000450895:N852S;ENSP00000359928:N852S;ENSP00000322251:N751S	ENSP00000322251:N751S	N	+	2	0	RP11-653A5.2;AC093158.1	74730439	0.105000	0.21958	0.739000	0.30968	0.737000	0.42083	0.680000	0.25306	0.062000	0.16340	-0.146000	0.13790	AAC	.		0.493	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			G	74957851	A	G	74957851	1	3	14	0	1	0	0	0	0	0	0	0	16376	43	2	4		4	TNNI3K	1	74957851	Intron	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	4453569	74957851	174292770	5	1872											
TCHH	7062	hgsc.bcm.edu	37	1	152082269	152082269	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	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		.											TCHH,NS,malignant_melanoma,0,1	TCHH	0	0			c.G3424A						.						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	55	0		74	3	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	.		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152082269	C	T	152082269	3	4	14	1	0	0	0	0	1	0	0	0	15747	864	30	3	2411	3	TCHH	1	152082269	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	77124418	152082269	97168352	6	1873											
S100A4	6275	hgsc.bcm.edu	37	1	153516381	153516381	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:153516381C>T	ENST00000368716.4	-	3	307	c.160G>A	c.(160-162)Gct>Act	p.A54T	S100A4_ENST00000354332.4_Missense_Mutation_p.A54T|S100A4_ENST00000368714.1_Missense_Mutation_p.A54T|S100A4_ENST00000368715.1_Missense_Mutation_p.A54T|S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	54	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(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)		Trifluoperazine(DB00831)	TTCTGGAAAGCAGCTTCATCT	0.517																																					p.A54T		.											.	.	.	0			c.G160A						.						210	189	196					1																	153516381		2203	4300	6503	SO:0001583	missense	6275	exon3			GGAAAGCAGCTTC	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"S100 calcium binding proteins", "EF-hand domain containing"	10494	protein-coding gene	gene with protein product	"fibroblast-specific protein-1"	114210	"S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)", "S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.160G>A	1.37:g.153516381C>T	ENSP00000357705:p.Ala54Thr	50	0		63	4	NM_002961	A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986661	0.53934	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	4.75	4.75	0.60458	EF-hand-like domain (1);	0.059610	0.64402	D	0.000003	T	0.03520	0.0101	N	0.21545	0.675	0.54753	D	0.999983	B	0.06786	0.001	B	0.11329	0.006	T	0.28650	-1.0037	10	0.11794	T	0.64	.	13.2685	0.60148	0.0:1.0:0.0:0.0	.	54	P26447	S10A4_HUMAN	T	54;54;54;54;43	ENSP00000357704:A54T;ENSP00000346294:A54T;ENSP00000357705:A54T;ENSP00000357703:A54T	ENSP00000346294:A54T	A	-	1	0	S100A4	151783005	0.439000	0.25610	0.465000	0.27155	0.968000	0.65278	2.169000	0.42434	2.202000	0.70862	0.561000	0.74099	GCT	.		0.517	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		T	153516381	C	T	153516381	3	4	14	1	0	0	0	0	1	0	0	0	13825	710	25	3	149	3	S100A4	1	153516381	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	1434112	153516381	95734240	7	1874											
GPR161	23432	hgsc.bcm.edu	37	1	168073858	168073858	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:168073858G>T	ENST00000367838.1	-	4	544	c.231C>A	c.(229-231)tcC>tcA	p.S77S	GPR161_ENST00000367835.1_Silent_p.S77S|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000271357.5_Silent_p.S77S|GPR161_ENST00000361697.2_Silent_p.S77S|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Silent_p.S97S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	77					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)	p.S77S(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GCACCAACACGGACAGCAGGA	0.532																																					p.S97S		.											GPR161,NS,carcinoma,0,1	GPR161	0	1	Substitution - coding silent(1)	endometrium(1)	c.C291A						.						238	209	219					1																	168073858		2203	4300	6503	SO:0001819	synonymous_variant	23432	exon3			CAACACGGACAGC	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.231C>A	1.37:g.168073858G>T		38	0		47	2	NM_001267609	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	CCDS1268.1																																																																																			.		0.532	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		T	168073858	G	T	168073858	2	4	14	1	0	0	0	0	0	0	0	1	6691	1103	39	2		2	GPR161	1	168073858	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	14557477	168073858	81176763	8	1875											
SEC16B	89866	bcgsc.ca	37	1	177917032	177917032	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:177917032C>T	ENST00000308284.6	-	13	1680	c.1591G>A	c.(1591-1593)Gtg>Atg	p.V531M	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.V532M	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	531					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						GACAGAATCACAGCCAAGTGA	0.507																																					p.V531M													.	SEC16B	92	0			c.G1591A						.						45	49	48					1																	177917032		1984	4112	6096	SO:0001583	missense	89866	exon13			GAATCACAGCCAA	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.1591G>A	1.37:g.177917032C>T	ENSP00000308339:p.Val531Met	52	0		46	4	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.808946|2.808946	0.50421|0.50421	.|.	.|.	ENSG00000120341|ENSG00000120341	ENST00000527976|ENST00000308284;ENST00000414025;ENST00000239472;ENST00000464631	.|T;T	.|0.39787	.|2.72;1.06	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|T	0.44871|0.44871	0.1314|0.1314	N|N	0.13198|0.13198	0.31|0.31	0.47123|0.47123	D|D	0.999325|0.999325	.|P;D;D;B;P	.|0.89917	.|0.722;0.986;1.0;0.288;0.871	.|P;D;D;P;P	.|0.97110	.|0.515;0.929;1.0;0.515;0.886	T|T	0.18650|0.18650	-1.0330|-1.0330	5|10	.|0.02654	.|T	.|1	-20.3805|-20.3805	19.0314|19.0314	0.92959|0.92959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86;532;532;531;228	.|B1AM07;E9PK14;B1AM08;Q96JE7;Q96PW0	.|.;.;.;SC16B_HUMAN;.	Y|M	114|531;215;246;532	.|ENSP00000308339:V531M;ENSP00000431727:V532M	.|ENSP00000239472:V246M	C|V	-|-	2|1	0|0	AL359075.1|AL359075.1	176183655|176183655	0.950000|0.950000	0.32346|0.32346	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	2.026000|2.026000	0.41069|0.41069	2.582000|2.582000	0.87167|0.87167	0.557000|0.557000	0.71058|0.71058	TGT|GTG	.		0.507	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		T	177917032	C	T	177917032	3	4	14	1	0	0	0	0	1	0	0	0	14032	478	17	3	1647	3	SEC16B	1	177917032	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	9843174	177917032	71333589	9	1876											
ASPM	259266	broad.mit.edu	37	1	197115508	197115508	+	Silent	SNP	C	C	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:197115508C>G	ENST00000367409.4	-	1	316	c.60G>C	c.(58-60)ccG>ccC	p.P20P	ASPM_ENST00000294732.7_Silent_p.P20P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	20					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						gccccgcgggcggcctccgct	0.711																																					p.P20P													.	ASPM	444	0			c.G60C						.						9	13	12					1																	197115508		2033	4047	6080	SO:0001819	synonymous_variant	259266	exon1			CGCGGGCGGCCTC	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.60G>C	1.37:g.197115508C>G		29	1		26	3	NM_001206846	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.711	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197115508	C	G	197115508	2	3	14	1	0	0	0	0	0	0	0	1	1057	755	27	5		5	ASPM	1	197115508	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	19198476	197115508	52135113	10	1877											
CHRM3	1131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	240072089	240072089	+	Silent	SNP	A	A	C	rs200157577		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:240072089A>C	ENST00000255380.4	+	5	2117	c.1338A>C	c.(1336-1338)tcA>tcC	p.S446S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	446					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)	TCAACTCCTCAGTGGGTAAGA	0.522																																					p.S446S		.											.	.	.	0			c.A1338C						.						60	61	60					1																	240072089		2203	4300	6503	SO:0001819	synonymous_variant	1131	exon5			CTCCTCAGTGGGT	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.1338A>C	1.37:g.240072089A>C		55	0		59	20	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	CCDS1616.1																																																																																			.		0.522	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		C	240072089	A	C	240072089	2	2	14	1	0	0	0	0	0	0	0	1	3385	175	7	4		4	CHRM3	1	240072089	Silent	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	42956581	240072089	9178532	11	1878											
PXDN	7837	hgsc.bcm.edu;broad.mit.edu	37	2	1670036	1670036	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:1670036G>A	ENST00000252804.4	-	10	1291	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	414	Ig-like C2-type 2.				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)		GTTGTTGGTCGCAGAGCACGC	0.592																																					p.A414V		.											PXDN,NS,carcinoma,0,1	PXDN	0	0			c.C1241T						.						71	76	74					2																	1670036		2172	4260	6432	SO:0001583	missense	7837	exon10			TTGGTCGCAGAGC	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.1241C>T	2.37:g.1670036G>A	ENSP00000252804:p.Ala414Val	66	0		49	3	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.847150|3.847150	0.71603|0.71603	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.72505|.	-0.66|.	4.57|4.57	4.57|4.57	0.56435|0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76543|.	0.4002|.	M|M	0.79693|0.79693	2.465|2.465	0.54753|0.54753	D|D	0.999984|0.999984	D;P|.	0.55385|.	0.971;0.935|.	P;P|.	0.51385|.	0.599;0.668|.	T|.	0.78565|.	-0.2155|.	10|.	0.87932|.	D|.	0|.	-26.066|-26.066	15.7097|15.7097	0.77615|0.77615	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	414;414|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|X	414|410	ENSP00000252804:A414V|.	ENSP00000252804:A414V|.	A|R	-|-	2|1	0|2	PXDN|PXDN	1649043|1649043	1.000000|1.000000	0.71417|0.71417	0.780000|0.780000	0.31762|0.31762	0.037000|0.037000	0.13140|0.13140	9.560000|9.560000	0.98139|0.98139	2.362000|2.362000	0.80069|0.80069	0.655000|0.655000	0.94253|0.94253	GCG|CGA	.		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1670036	G	A	1670036	3	1	14	1	0	0	0	0	1	0	0	0	12892	1087	38	1	3254	1	PXDN	2	1670036	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		1670036	241529337	12	1879											
NBAS	51594	hgsc.bcm.edu	37	2	15378717	15378717	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:15378717C>T	ENST00000281513.5	-	45	5843	c.5818G>A	c.(5818-5820)Gaa>Aaa	p.E1940K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1820K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1940					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						TCTTGAGCTTCGTCTTCTGAG	0.408																																					p.E1940K		.											.	.	.	0			c.G5818A						.						122	124	123					2																	15378717		2203	4300	6503	SO:0001583	missense	51594	exon45			GAGCTTCGTCTTC	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.5818G>A	2.37:g.15378717C>T	ENSP00000281513:p.Glu1940Lys	165	0		76	3	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	1.847	-0.465926	0.04476	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.41758	3.02;3.19;0.99	5.9	-0.303	0.12792	.	0.868827	0.10756	N	0.637790	T	0.19967	0.0480	N	0.03608	-0.345	0.09310	N	1	D;B	0.54047	0.964;0.036	B;B	0.43018	0.405;0.01	T	0.15521	-1.0434	10	0.87932	D	0	.	7.0331	0.24979	0.0:0.5848:0.1078:0.3074	.	1820;1940	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	K	1820;1940;32	ENSP00000413201:E1820K;ENSP00000281513:E1940K;ENSP00000392421:E32K	ENSP00000281513:E1940K	E	-	1	0	NBAS	15296168	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.170000	0.16663	0.123000	0.18342	0.655000	0.94253	GAA	.		0.408	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15378717	C	T	15378717	3	4	14	1	0	0	0	0	1	0	0	0	10224	893	31	1	1329	1	NBAS	2	15378717	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	13708681	15378717	227820656	13	1880											
ALMS1	7840	hgsc.bcm.edu	37	2	73800387	73800387	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:73800387G>T	ENST00000264448.6	+	16	11491	c.11380G>T	c.(11380-11382)Ggc>Tgc	p.G3794C	ALMS1_ENST00000409009.1_Missense_Mutation_p.G3752C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3794					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)		p.G3794>?(1)		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						TCAAGCTTTTGGCCATGAAAG	0.453																																					p.G3794C		.											.,1	.	384	1	Complex(1)	lung(1)	c.G11380T						.						105	104	105					2																	73800387		1980	4163	6143	SO:0001583	missense	7840	exon16			GCTTTTGGCCATG	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.11380G>T	2.37:g.73800387G>T	ENSP00000264448:p.Gly3794Cys	54	0		45	2	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513451	0.64522	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.26810	1.72;1.71	4.79	4.79	0.61399	.	0.000000	0.47455	D	0.000234	T	0.45115	0.1326	L	0.46157	1.445	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	0.38693	-0.9649	10	0.87932	D	0	.	16.143	0.81539	0.0:0.0:1.0:0.0	.	3794;3752;3794	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	C	3752;3794	ENSP00000386627:G3752C;ENSP00000264448:G3794C	ENSP00000264448:G3794C	G	+	1	0	ALMS1	73653895	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.603000	0.74145	2.610000	0.88304	0.655000	0.94253	GGC	.		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		T	73800387	G	T	73800387	3	4	14	1	0	0	0	0	1	0	0	0	535	1348	47	3	11442	3	ALMS1	2	73800387	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	58421670	73800387	169398986	14	1881											
REG3G	130120	broad.mit.edu;ucsc.edu	37	2	79253292	79253292	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:79253292C>A	ENST00000272324.5	+	2	257	c.73C>A	c.(73-75)Caa>Aaa	p.Q25K	REG3G_ENST00000409471.1_Missense_Mutation_p.Q25K|REG3G_ENST00000393897.2_Missense_Mutation_p.Q25K	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	25					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTCAGGTTCAAGGTGAGAT	0.547																																					p.Q25K													.	REG3G	67	0			c.C73A						.						204	157	173					2																	79253292		2203	4300	6503	SO:0001583	missense	130120	exon2			CAGGTTCAAGGTG	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.73C>A	2.37:g.79253292C>A	ENSP00000272324:p.Gln25Lys	41	1		15	4	NM_198448	A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	9.366	1.069308	0.20147	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16457	4.27;4.27;2.34	4.49	4.49	0.54785	.	0.410282	0.18473	N	0.140167	T	0.16041	0.0386	L	0.59912	1.85	0.22066	N	0.999382	B;P	0.42908	0.004;0.793	B;B	0.34779	0.009;0.189	T	0.18745	-1.0327	10	0.27785	T	0.31	.	13.007	0.58710	0.0:1.0:0.0:0.0	.	25;25	Q3SYE6;Q6UW15	.;REG3G_HUMAN	K	25	ENSP00000377475:Q25K;ENSP00000272324:Q25K;ENSP00000387105:Q25K	ENSP00000272324:Q25K	Q	+	1	0	REG3G	79106800	0.978000	0.34361	0.895000	0.35142	0.011000	0.07611	3.201000	0.51059	2.779000	0.95612	0.637000	0.83480	CAA	.		0.547	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		A	79253292	C	A	79253292	3	1	14	1	0	0	0	0	1	0	0	0	13258	827	29	3	75	3	REG3G	2	79253292	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	5452905	79253292	163946081	15	1882											
TGFBRAP1	9392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	105897081	105897081	+	Silent	SNP	G	G	A	rs369009120		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:105897081G>A	ENST00000393359.2	-	6	1647	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	TGFBRAP1_ENST00000258449.1_Silent_p.Y407Y			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	407					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						TCAGGTCTGCGTACTCATGAA	0.597																																					p.Y407Y	Esophageal Squamous(183;794 2019 9730 21801 48859)	.											TGFBRAP1,NS,carcinoma,0,1	TGFBRAP1	0	0			c.C1221T						.	G	,	0,4406		0,0,2203	110	99	103		1221,1221	-6.6	0.9	2		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TGFBRAP1	NM_001142621.1,NM_004257.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	407/861,407/861	105897081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9392	exon6			GTCTGCGTACTCA	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.1221C>T	2.37:g.105897081G>A		39	0		20	7	NM_004257	A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	CCDS2067.1																																																																																			.		0.597	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		A	105897081	G	A	105897081	2	1	14	1	0	0	0	0	0	0	0	1	15871	1140	40	1		1	TGFBRAP1	2	105897081	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	26643789	105897081	137302292	16	1883											
ARHGEF4	50649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	131797699	131797699	+	Silent	SNP	C	C	G	rs138695820		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:131797699C>G	ENST00000326016.5	+	7	1377	c.858C>G	c.(856-858)acC>acG	p.T286T	ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.T215T|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000392953.3_Silent_p.T286T|ARHGEF4_ENST00000409303.1_Silent_p.T286T|ARHGEF4_ENST00000525839.1_Silent_p.T286T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	286	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)		AGATGCGGACCAACGTCATCA	0.687																																					p.T286T		.											.	.	.	0			c.C858G						.	C	,	0,4406		0,0,2203	74	71	72		858,858	2	1	2	dbSNP_134	72	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous,coding-synonymous	ARHGEF4	NM_015320.2,NM_032995.1	,	0,2,6500	GG,GC,CC		0.0233,0.0,0.0154	,	286/691,286/671	131797699	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	50649	exon7			GCGGACCAACGTC	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.858C>G	2.37:g.131797699C>G		89	0		66	11	NM_032995	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1																																																																																			0.000		0.687	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			G	131797699	C	G	131797699	2	3	14	1	0	0	0	0	0	0	0	1	908	581	21	5		5	ARHGEF4	2	131797699	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	25900618	131797699	111401674	17	1884											
THSD7B	80731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	137814609	137814609	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:137814609G>A	ENST00000409968.1	+	3	937	c.759G>A	c.(757-759)ctG>ctA	p.L253L	THSD7B_ENST00000543459.1_Silent_p.L112L|THSD7B_ENST00000272643.3_Silent_p.L253L|THSD7B_ENST00000413152.2_Silent_p.L222L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	253						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)		AATGCAGACTGCCTCATCTTA	0.413																																					.		.											.	.	.	0			.						.						145	142	143					2																	137814609		1876	4118	5994	SO:0001819	synonymous_variant	80731	p.L253L			CAGACTGCCTCAT			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.759G>A	2.37:g.137814609G>A		84	0		64	16	.		Silent	SNP	ENST00000409968.1	37																																																																																				.		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	137814609	G	A	137814609	2	1	14	1	0	0	0	0	0	0	0	1	15927	1306	46	3		3	THSD7B	2	137814609	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	6016910	137814609	105384764	18	1885											
LRP1B	53353	bcgsc.ca	37	2	141528562	141528562	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:141528562G>A	ENST00000389484.3	-	34	6485	c.5514C>T	c.(5512-5514)tgC>tgT	p.C1838C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1838	EGF-like 8. {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)		TGTTTAGTTGGCAGGAATTGC	0.308										TSP Lung(27;0.18)																											p.C1838C	Colon(99;50 2074 2507 20106)												.	LRP1B	1315	0			c.C5514T						.						120	114	116					2																	141528562		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon34			TAGTTGGCAGGAA	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.5514C>T	2.37:g.141528562G>A		145	0		65	4	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141528562	G	A	141528562	2	1	14	1	0	0	0	0	0	0	0	1	8990	1195	42	3		3	LRP1B	2	141528562	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	3713953	141528562	101670811	19	1886											
GAD1	2571	hgsc.bcm.edu	37	2	171702096	171702096	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:171702096G>A	ENST00000358196.3	+	8	1382	c.832G>A	c.(832-834)Gct>Act	p.A278T		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	278					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						GGGCATGGCGGCTGTGCCTAA	0.507																																					p.A278T		.											GAD1,caecum,carcinoma,0,1	GAD1	0	0			c.G832A						.						108	109	108					2																	171702096		2203	4300	6503	SO:0001583	missense	2571	exon8			ATGGCGGCTGTGC		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.832G>A	2.37:g.171702096G>A	ENSP00000350928:p.Ala278Thr	81	0		64	3	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227197	0.79576	.	.	ENSG00000128683	ENST00000358196	T	0.37411	1.2	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.79011	2.435	0.80722	D	1	P	0.40578	0.722	B	0.44278	0.445	T	0.52533	-0.8563	10	0.49607	T	0.09	-12.3402	19.7657	0.96340	0.0:0.0:1.0:0.0	.	278	Q99259	DCE1_HUMAN	T	278	ENSP00000350928:A278T	ENSP00000350928:A278T	A	+	1	0	GAD1	171410342	1.000000	0.71417	0.555000	0.28281	0.971000	0.66376	9.476000	0.97823	2.649000	0.89929	0.655000	0.94253	GCT	.		0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			A	171702096	G	A	171702096	3	1	14	1	0	0	0	0	1	0	0	0	6203	1203	42	3	899	3	GAD1	2	171702096	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	30173534	171702096	71497277	20	1887											
HECW2	57520	hgsc.bcm.edu	37	2	197184391	197184391	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:197184391G>T	ENST00000260983.3	-	9	1405	c.1223C>A	c.(1222-1224)cCt>cAt	p.P408H	HECW2_ENST00000409111.1_Missense_Mutation_p.P52H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	408					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.P408L(1)		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						TCCTCTGGGAGGTGAGGTCCT	0.522																																					p.P408H		.											HECW2,NS,carcinoma,0,1	HECW2	0	1	Substitution - Missense(1)	kidney(1)	c.C1223A						.						89	91	90					2																	197184391		2203	4300	6503	SO:0001583	missense	57520	exon9			CTGGGAGGTGAGG	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.1223C>A	2.37:g.197184391G>T	ENSP00000260983:p.Pro408His	45	0		52	3	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623622	0.46840	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.34275	1.37;1.47	5.64	5.64	0.86602	.	0.381500	0.29424	N	0.012195	T	0.35970	0.0950	N	0.19112	0.55	0.39970	D	0.97477	D	0.57257	0.979	P	0.50231	0.635	T	0.07868	-1.0750	10	0.40728	T	0.16	.	18.0636	0.89384	0.0:0.0:1.0:0.0	.	408	Q9P2P5	HECW2_HUMAN	H	52;408	ENSP00000386775:P52H;ENSP00000260983:P408H	ENSP00000260983:P408H	P	-	2	0	HECW2	196892636	1.000000	0.71417	0.980000	0.43619	0.891000	0.51852	5.883000	0.69721	2.937000	0.99478	0.650000	0.86243	CCT	.		0.522	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197184391	G	T	197184391	3	4	14	1	0	0	0	0	1	0	0	0	7070	1000	35	3	3579	3	HECW2	2	197184391	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	25482295	197184391	46014982	21	1888											
FN1	2335	bcgsc.ca	37	2	216242924	216242924	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:216242924G>T	ENST00000359671.1	-	34	5676	c.5411C>A	c.(5410-5412)gCt>gAt	p.A1804D	FN1_ENST00000346544.3_Missense_Mutation_p.A1804D|FN1_ENST00000357009.2_Missense_Mutation_p.A1804D|FN1_ENST00000345488.5_Missense_Mutation_p.A1804D|FN1_ENST00000446046.1_Missense_Mutation_p.A1804D|FN1_ENST00000443816.1_Missense_Mutation_p.A1714D|FN1_ENST00000421182.1_Missense_Mutation_p.A1714D|FN1_ENST00000356005.4_Missense_Mutation_p.A1714D|FN1_ENST00000336916.4_Missense_Mutation_p.A1804D|FN1_ENST00000354785.4_Missense_Mutation_p.A1895D|FN1_ENST00000323926.6_Missense_Mutation_p.A1895D|FN1_ENST00000432072.2_Missense_Mutation_p.A1805D|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000357867.4_Missense_Mutation_p.A1714D			P02751	FINC_HUMAN	fibronectin 1	1804	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)		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)	AACTCCCTGAGCTGGTCTGCT	0.423																																					p.A1895D													.	FN1	521	0			c.C5684A						.						148	127	134					2																	216242924		2203	4300	6503	SO:0001583	missense	2335	exon35			CCCTGAGCTGGTC		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.5411C>A	2.37:g.216242924G>T	ENSP00000352696:p.Ala1804Asp	52	0		35	3	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	20.5	4.007967	0.75046	.	.	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	0.54479	0.57;3.54;0.57;0.57;3.54;0.57;3.54;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.47	3.66	0.41972	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.403220	0.23567	N	0.046782	T	0.69806	0.3152	M	0.77103	2.36	0.22330	N	0.999196	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.997;0.999;1.0;1.0;0.998;0.999;1.0;1.0;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.944;0.945;0.973;0.981;0.981;0.917;0.991;0.981;0.981;0.978;0.976	T	0.61367	-0.7077	10	0.72032	D	0.01	.	9.6072	0.39641	0.2154:0.0:0.7846:0.0	.	1804;1805;1895;1714;1714;1804;1804;1805;1714;1714;1895;1804	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	1714;1895;1804;1714;1895;1805;1804;1804;1804;1804;1804;1714;1805;1714;521	ENSP00000394423:A1714D;ENSP00000323534:A1895D;ENSP00000338200:A1804D;ENSP00000350534:A1714D;ENSP00000346839:A1895D;ENSP00000352696:A1804D;ENSP00000265312:A1804D;ENSP00000273049:A1804D;ENSP00000349509:A1804D;ENSP00000410422:A1804D;ENSP00000415018:A1714D;ENSP00000399538:A1805D;ENSP00000348285:A1714D;ENSP00000416139:A521D	ENSP00000265313:A1805D	A	-	2	0	FN1	215951169	0.971000	0.33674	0.988000	0.46212	0.999000	0.98932	2.050000	0.41297	0.667000	0.31107	0.650000	0.86243	GCT	.		0.423	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216242924	G	T	216242924	3	4	14	1	0	0	0	0	1	0	0	0	5984	971	34	3	1797	3	FN1	2	216242924	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	19058533	216242924	26956449	22	1889											
EAF2	55840	hgsc.bcm.edu	37	3	121575996	121575996	+	Silent	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:121575996C>A	ENST00000273668.2	+	4	548	c.477C>A	c.(475-477)atC>atA	p.I159I	EAF2_ENST00000451944.2_Silent_p.I159I	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	159					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.I159I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TAGATGATATCGAAAGAGGTA	0.393																																					p.I159I	Esophageal Squamous(194;1942 2097 24663 29345 31866)	.											EAF2,colon,carcinoma,0,1	EAF2	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C477A						.						84	80	81					3																	121575996		2203	4300	6503	SO:0001819	synonymous_variant	55840	exon4			TGATATCGAAAGA	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.477C>A	3.37:g.121575996C>A		79	0		37	2	NM_018456	Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																			.		0.393	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		A	121575996	C	A	121575996	2	1	14	1	0	0	0	0	0	0	0	1	4890	874	31	2		2	EAF2	3	121575996	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		121575996	76446434	23	1890											
MYLK	4638	bcgsc.ca	37	3	123339082	123339082	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:123339082C>T	ENST00000475616.1	-	29	5339	c.5340G>A	c.(5338-5340)ccG>ccA	p.P1780P	MYLK_ENST00000354792.5_Silent_p.P580P|MYLK_ENST00000578202.1_Silent_p.P20P|MYLK_ENST00000359169.1_Silent_p.P1729P|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Silent_p.P1780P|MYLK_ENST00000346322.5_Silent_p.P1711P|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Silent_p.P20P|MYLK_ENST00000418370.2_Silent_p.P20P|MYLK_ENST00000360772.3_Silent_p.P1729P|MYLK-AS1_ENST00000470449.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1780					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)		CTGCATTGAGCGGGCTGGTTG	0.502																																					p.P1780P													.	MYLK	224	0			c.G5340A						.						176	176	176					3																	123339082		2203	4300	6503	SO:0001819	synonymous_variant	4638	exon32			ATTGAGCGGGCTG	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.5340G>A	3.37:g.123339082C>T		101	0		49	4	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																																																																																			.		0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123339082	C	T	123339082	2	4	14	1	0	0	0	0	0	0	0	1	10094	755	27	1		1	MYLK	3	123339082	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	1763086	123339082	74683348	24	1891											
ZXDC	79364	hgsc.bcm.edu	37	3	126160731	126160731	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:126160731G>T	ENST00000389709.3	-	8	2324	c.2271C>A	c.(2269-2271)ttC>ttA	p.F757L		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	757					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)		GGCTTGCATGGAAATGGGGAG	0.527																																					p.F757L		.											ZXDC_ENST00000389709,NS,carcinoma,0,1	ZXDC_ENST00000389709	0	0			c.C2271A						.						67	68	67					3																	126160731		1948	4153	6101	SO:0001583	missense	79364	exon8			TGCATGGAAATGG	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.2271C>A	3.37:g.126160731G>T	ENSP00000374359:p.Phe757Leu	83	0		31	2	NM_025112	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787699	0.02884	.	.	ENSG00000070476	ENST00000389709	T	0.09163	3.01	5.08	0.977	0.19733	.	1.886340	0.02459	N	0.086379	T	0.07818	0.0196	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40905	-0.9538	10	0.06365	T	0.9	2.2598	15.1265	0.72486	0.0:0.6303:0.3697:0.0	.	757	Q2QGD7	ZXDC_HUMAN	L	757	ENSP00000374359:F757L	ENSP00000374359:F757L	F	-	3	2	ZXDC	127643421	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.272000	0.08560	-0.123000	0.11745	-0.282000	0.10007	TTC	.		0.527	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		T	126160731	G	T	126160731	3	4	14	1	0	0	0	0	1	0	0	0	18300	1165	41	3	317	3	ZXDC	3	126160731	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	2821649	126160731	71861699	25	1892											
HS3ST1	9957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	11401504	11401504	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:11401504G>A	ENST00000002596.5	-	2	1300	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	42					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						CCACGCCATCGCGGACGTCAT	0.692																																					p.R42R		.											.	.	.	0			c.C126T						.						23	22	22					4																	11401504		2200	4294	6494	SO:0001819	synonymous_variant	9957	exon2			GCCATCGCGGACG	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.126C>T	4.37:g.11401504G>A		33	0		24	10	NM_005114	B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																			.		0.692	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		A	11401504	G	A	11401504	2	1	14	1	0	0	0	0	0	0	0	1	7390	1074	38	1		1	HS3ST1	4	11401504	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		11401504	179752772	26	1893											
ZAR1	326340	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	48494818	48494818	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:48494818G>T	ENST00000327939.4	+	2	1039	c.999G>T	c.(997-999)aaG>aaT	p.K333N		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	333					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						ACCACTGCAAGGACTGCAACA	0.418																																					p.K333N		.											.	.	.	0			c.G999T						.						215	213	214					4																	48494818		2203	4300	6503	SO:0001583	missense	326340	exon2			CTGCAAGGACTGC	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 6"	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.999G>T	4.37:g.48494818G>T	ENSP00000329803:p.Lys333Asn	66	0		61	4	NM_175619		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512261	0.64522	.	.	ENSG00000182223	ENST00000327939	T	0.24151	1.87	5.71	2.62	0.31277	.	0.059791	0.64402	D	0.000004	T	0.45657	0.1353	M	0.68317	2.08	0.42796	D	0.993913	D	0.89917	1.0	D	0.79784	0.993	T	0.45366	-0.9266	10	0.87932	D	0	-14.4816	11.0042	0.47624	0.2648:0.0:0.7352:0.0	.	333	Q86SH2	ZAR1_HUMAN	N	333	ENSP00000329803:K333N	ENSP00000329803:K333N	K	+	3	2	ZAR1	48189575	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.334000	0.43920	0.752000	0.32923	0.462000	0.41574	AAG	.		0.418	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			T	48494818	G	T	48494818	3	4	14	1	0	0	0	0	1	0	0	0	17564	991	35	3	1005	3	ZAR1	4	48494818	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	37093314	48494818	142659458	27	1894											
ALB	213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	74276063	74276063	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:74276063C>T	ENST00000503124.1	+	4	407	c.200C>T	c.(199-201)tCt>tTt	p.S67F	ALB_ENST00000509063.1_Missense_Mutation_p.S217F|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Missense_Mutation_p.S102F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000295897.4_Missense_Mutation_p.S217F			Q8TES7	FBF1_HUMAN	albumin	0					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)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGGCTTCGTCTGCCAAACAG	0.378																																					p.S217F		.											.	.	.	0			c.C650T						.						86	91	90					4																	74276063		2203	4300	6503	SO:0001583	missense	213	exon6			CTTCGTCTGCCAA	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.200C>T	4.37:g.74276063C>T	ENSP00000421027:p.Ser67Phe	70	0		44	20	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	C	11.93	1.785637	0.31593	.	.	ENSG00000163631	ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T	0.58060	0.36;0.93;0.36;0.93	5.46	2.52	0.30459	Serum albumin-like (1);Serum albumin, N-terminal (2);	1.494230	0.03511	N	0.219490	T	0.76955	0.4060	M	0.82193	2.58	0.09310	N	1	D;D;D;D	0.76494	0.999;0.991;0.984;0.984	D;P;P;P	0.69654	0.965;0.77;0.655;0.77	T	0.58758	-0.7580	10	0.87932	D	0	-4.436	13.9511	0.64118	0.0:0.5224:0.4776:0.0	.	102;67;217;217	B7WNR0;D6RHD5;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	F	217;67;217;102;226	ENSP00000295897:S217F;ENSP00000421027:S67F;ENSP00000422784:S217F;ENSP00000384695:S102F	ENSP00000295897:S217F	S	+	2	0	ALB	74494927	0.000000	0.05858	0.029000	0.17559	0.177000	0.22998	0.329000	0.19698	0.712000	0.32039	0.555000	0.69702	TCT	.		0.378	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		T	74276063	C	T	74276063	3	4	14	1	0	0	0	0	1	0	0	0	486	913	32	3	672	3	ALB	4	74276063	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	25781245	74276063	116878213	28	1895											
MARCH1	55016	hgsc.bcm.edu	37	4	164466875	164466875	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:164466875G>T	ENST00000503008.1	-	7	1420	c.444C>A	c.(442-444)acC>acA	p.T148T	MARCH1_ENST00000514618.1_Silent_p.T404T|MARCH1_ENST00000339875.5_Silent_p.T131T|MARCH1_ENST00000274056.7_Silent_p.T148T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	148					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.T148T(2)|p.T131T(2)		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)				TTTCACTTGTGGTCATCTGTA	0.423																																					p.T148T		.											MARCH1_ENST00000503008,NS,carcinoma,0,2	MARCH1_ENST00000503008	0	4	Substitution - coding silent(4)	lung(4)	c.C444A						.						246	192	210					4																	164466875		2203	4300	6503	SO:0001819	synonymous_variant	55016	exon7			ACTTGTGGTCATC	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.444C>A	4.37:g.164466875G>T		57	0		51	3	NM_001166373	D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																			.		0.423	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		T	164466875	G	T	164466875	2	4	14	1	0	0	0	0	0	0	0	1	9336	1335	47	3		3	MARCH1	4	164466875	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	90190812	164466875	26687401	29	1896											
NEIL3	55247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	178256872	178256872	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:178256872G>A	ENST00000264596.3	+	3	427	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	103					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)		GCTTCATCATGATTAATCCAC	0.333								Base excision repair (BER), DNA glycosylases																													p.M103I		.											.	.	.	0			c.G309A						.						61	68	66					4																	178256872		2199	4299	6498	SO:0001583	missense	55247	exon3			CATCATGATTAAT	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.309G>A	4.37:g.178256872G>A	ENSP00000264596:p.Met103Ile	189	0		141	68	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	5.873	0.345147	0.11126	.	.	ENSG00000109674	ENST00000264596	T	0.28255	1.62	5.14	3.38	0.38709	DNA glycosylase/AP lyase, catalytic domain (2);	0.896359	0.09856	N	0.746875	T	0.12433	0.0302	N	0.02011	-0.69	0.23076	N	0.998336	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.21540	T	0.41	0.3662	9.1384	0.36888	0.0795:0.2976:0.623:0.0	.	103	Q8TAT5	NEIL3_HUMAN	I	103	ENSP00000264596:M103I	ENSP00000264596:M103I	M	+	3	0	NEIL3	178493866	0.103000	0.21917	0.938000	0.37757	0.839000	0.47603	0.360000	0.20250	0.717000	0.32145	0.561000	0.74099	ATG	.		0.333	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		A	178256872	G	A	178256872	3	1	14	1	0	0	0	0	1	0	0	0	10359	1290	45	3	319	3	NEIL3	4	178256872	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	13789997	178256872	12897404	30	1897											
AHRR	57491	hgsc.bcm.edu	37	5	434622	434622	+	Silent	SNP	C	C	T	rs370473413		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:434622C>T	ENST00000505113.1	+	11	1823	c.1779C>T	c.(1777-1779)caC>caT	p.H593H	AHRR_ENST00000512529.1_Silent_p.H439H|AHRR_ENST00000506456.1_Silent_p.H449H|AHRR_ENST00000316418.5_Silent_p.H611H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	593	Needed for transcriptional repression. {ECO:0000250}.				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)			ACCTGGGGCACGGCGTGCGGG	0.667													C|||	1	0.000199681	0	0	5008	,	,		19229	0		0	False		,,,				2504	0.001				p.H611H		.											AHRR,caecum,carcinoma,0,1	AHRR	0	0			c.C1833T						.						26	29	28					5																	434622		2092	4220	6312	SO:0001819	synonymous_variant	57491	exon12			GGGGCACGGCGTG	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.1779C>T	5.37:g.434622C>T		24	0		18	2	NM_020731	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	CCDS56355.1																																																																																			.		0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		T	434622	C	T	434622	2	4	14	1	0	0	0	0	0	0	0	1	417	535	19	1		1	AHRR	5	434622	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		434622	180480638	31	1898											
KIAA0947	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	5463258	5463258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:5463258C>T	ENST00000296564.7	+	13	4033	c.3811C>T	c.(3811-3813)Caa>Taa	p.Q1271*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1271					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						GCAAGAACTTCAAACAAATTC	0.348																																					p.Q1271X		.											.	.	.	0			c.C3811T						.						33	33	33					5																	5463258		1842	4092	5934	SO:0001587	stop_gained	23379	exon13			GAACTTCAAACAA																												ENST00000296564.7:c.3811C>T	5.37:g.5463258C>T	ENSP00000296564:p.Gln1271*	77	0		48	17	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	43	10.303670	0.99379	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.1	0.806	0.18708	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.1221	14.2947	0.66304	0.0:0.3905:0.6095:0.0	.	.	.	.	X	1271	.	ENSP00000296564:Q1271X	Q	+	1	0	KIAA0947	5516258	0.000000	0.05858	0.001000	0.08648	0.587000	0.36485	0.084000	0.14891	0.131000	0.18576	0.305000	0.20034	CAA	.		0.348	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5463258	C	T	5463258	4	4	14	1	0	0	0	0	0	1	0	0	8229	827	29	3	3861	3	KIAA0947	5	5463258	Nonsense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	5028636	5463258	175452002	32	1899											
PRDM9	56979	hgsc.bcm.edu	37	5	23527220	23527220	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:23527220T>C	ENST00000296682.3	+	11	2205	c.2023T>C	c.(2023-2025)Tgg>Cgg	p.W675R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	675					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.W675R(1)		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						GGGCTTTAGCTGGCAGTCAGT	0.617										HNSCC(3;0.000094)																											p.W675R		.											PRDM9,trunk,malignant_melanoma,0,1	PRDM9	0	1	Substitution - Missense(1)	skin(1)	c.T2023C						.						15	15	15					5																	23527220		1338	3030	4368	SO:0001583	missense	56979	exon11			TTTAGCTGGCAGT	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.2023T>C	5.37:g.23527220T>C	ENSP00000296682:p.Trp675Arg	86	2		64	8	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.101450	0.00033	.	.	ENSG00000164256	ENST00000296682	T	0.13657	2.57	2.65	-5.31	0.02730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	130.374000	0.00166	N	0.000000	T	0.03011	0.0089	N	0.00450	-1.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34329	-0.9833	10	0.33940	T	0.23	.	0.8341	0.01136	0.2333:0.1458:0.3368:0.2842	.	675	Q9NQV7	PRDM9_HUMAN	R	675	ENSP00000296682:W675R	ENSP00000296682:W675R	W	+	1	0	PRDM9	23562977	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-11.157000	0.00004	-2.361000	0.00609	-5.757000	0.00000	TGG	.		0.617	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		C	23527220	T	C	23527220	3	2	14	1	0	0	0	0	1	0	0	0	12505	1580	55	4	2061	4	PRDM9	5	23527220	Missense_Mutation	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09	18063962	23527220	157388040	33	1900											
MRPS27	23107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	71519605	71519605	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:71519605C>T	ENST00000261413.5	-	10	949	c.910G>A	c.(910-912)Gat>Aat	p.D304N	MRPS27_ENST00000513900.1_Missense_Mutation_p.D318N|MRPS27_ENST00000522562.1_5'Flank|MRPS27_ENST00000457646.4_Missense_Mutation_p.D248N	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	304						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)		TTGTCTTCATCATTTTGGGAC	0.512																																					p.D304N		.											.	.	.	0			c.G910A						.						129	124	126					5																	71519605		2203	4300	6503	SO:0001583	missense	23107	exon10			CTTCATCATTTTG	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.910G>A	5.37:g.71519605C>T	ENSP00000261413:p.Asp304Asn	69	0		46	24	NM_015084	B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	C	4.160	0.028194	0.08054	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	6.16	0.898	0.19264	.	0.539790	0.21644	N	0.071292	T	0.16171	0.0389	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.25007	0.116;0.049;0.116	B;B;B	0.22152	0.038;0.023;0.038	T	0.10660	-1.0620	10	0.21014	T	0.42	-23.132	2.597	0.04856	0.1799:0.5253:0.104:0.1908	.	318;85;304	B4DRT2;E7ETN4;Q92552	.;.;RT27_HUMAN	N	304;248;318;248	ENSP00000261413:D304N;ENSP00000428120:D248N;ENSP00000426941:D318N;ENSP00000426176:D248N	ENSP00000261413:D304N	D	-	1	0	MRPS27	71555361	0.000000	0.05858	0.003000	0.11579	0.238000	0.25445	0.125000	0.15749	0.490000	0.27771	0.650000	0.86243	GAT	.		0.512	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		T	71519605	C	T	71519605	3	4	14	1	0	0	0	0	1	0	0	0	9876	826	29	3	342	3	MRPS27	5	71519605	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	47992385	71519605	109395655	34	1901											
GCNT4	51301	hgsc.bcm.edu	37	5	74325091	74325091	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:74325091G>T	ENST00000322348.4	-	1	1633	c.772C>A	c.(772-774)Cca>Aca	p.P258T		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	258					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTACTGTTTGGGGGTTTCACC	0.403																																					p.P258T		.											GCNT4,NS,carcinoma,0,1	GCNT4	0	0			c.C772A						.						86	90	88					5																	74325091		2203	4300	6503	SO:0001583	missense	51301	exon1			TGTTTGGGGGTTT	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.772C>A	5.37:g.74325091G>T	ENSP00000317027:p.Pro258Thr	52	0		47	2	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018650	0.19355	.	.	ENSG00000176928	ENST00000322348	T	0.11821	2.74	5.96	4.0	0.46444	.	0.427108	0.27778	N	0.017886	T	0.10508	0.0257	L	0.39692	1.235	0.26378	N	0.976778	B	0.27823	0.19	B	0.23574	0.047	T	0.16276	-1.0408	10	0.39692	T	0.17	-15.5194	7.213	0.25945	0.0846:0.0:0.453:0.4624	.	258	Q9P109	GCNT4_HUMAN	T	258	ENSP00000317027:P258T	ENSP00000317027:P258T	P	-	1	0	GCNT4	74360847	0.998000	0.40836	0.996000	0.52242	0.953000	0.61014	2.530000	0.45641	1.506000	0.48736	0.650000	0.86243	CCA	.		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		T	74325091	G	T	74325091	3	4	14	1	0	0	0	0	1	0	0	0	6328	1232	43	3	593	3	GCNT4	5	74325091	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	2805486	74325091	106590169	35	1902											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	90052799	90052799	+	Missense_Mutation	SNP	G	G	A	rs200576500	byFrequency	TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:90052799G>A	ENST00000405460.2	+	57	11857	c.11761G>A	c.(11761-11763)Gct>Act	p.A3921T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3921	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)		CTTAAAGGGCGCTGGGGAAGT	0.388													G|||	2	0.000399361	0.0015	0	5008	,	,		16046	0		0	False		,,,				2504	0				p.A3921T		.											.	.	.	0			c.G11761A						.	G	THR/ALA	5,3673		0,5,1834	77	75	76		11761	2.3	0.1	5		76	0,8158		0,0,4079	yes	missense	GPR98	NM_032119.3	58	0,5,5913	AA,AG,GG		0.0,0.1359,0.0422	benign	3921/6307	90052799	5,11831	1839	4079	5918	SO:0001583	missense	84059	exon57			AAGGGCGCTGGGG	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.11761G>A	5.37:g.90052799G>A	ENSP00000384582:p.Ala3921Thr	65	0		49	21	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.526	-0.860029	0.02610	0.001359	0.0	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27256	1.68	5.3	2.27	0.28462	Na-Ca exchanger/integrin-beta4 (1);	0.732108	0.13525	N	0.381387	T	0.11879	0.0289	N	0.14661	0.345	0.22050	N	0.999396	B;B	0.23058	0.079;0.013	B;B	0.10450	0.005;0.002	T	0.25012	-1.0144	10	0.25751	T	0.34	.	4.1082	0.10047	0.2731:0.3558:0.3711:0.0	.	3921;3921	E7ETI5;Q8WXG9	.;GPR98_HUMAN	T	3921	ENSP00000384582:A3921T	ENSP00000296619:A3921T	A	+	1	0	GPR98	90088555	0.001000	0.12720	0.090000	0.20809	0.015000	0.08874	-0.111000	0.10807	0.694000	0.31654	0.467000	0.42956	GCT	.		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90052799	G	A	90052799	3	1	14	1	0	0	0	0	1	0	0	0	6748	1087	38	1	11987	1	GPR98	5	90052799	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	15727708	90052799	90862461	36	1903											
ELL2	22936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	95242375	95242375	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:95242375C>A	ENST00000237853.4	-	5	942	c.593G>T	c.(592-594)aGc>aTc	p.S198I	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	198					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)		GATGGTGCTGCTGCTATGTGT	0.483																																					p.S198I		.											.	.	.	0			c.G593T						.						187	171	177					5																	95242375		2203	4300	6503	SO:0001583	missense	22936	exon5			GTGCTGCTGCTAT	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.593G>T	5.37:g.95242375C>A	ENSP00000237853:p.Ser198Ile	74	0		49	25	NM_012081	B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747513	0.49257	.	.	ENSG00000118985	ENST00000237853	T	0.31769	1.48	5.83	4.79	0.61399	.	0.456123	0.23084	N	0.052119	T	0.28300	0.0699	N	0.14661	0.345	0.80722	D	1	P	0.42203	0.773	P	0.51742	0.678	T	0.01771	-1.1277	10	0.38643	T	0.18	1.9712	10.7707	0.46321	0.0:0.8577:0.0:0.1423	.	198	O00472	ELL2_HUMAN	I	198	ENSP00000237853:S198I	ENSP00000237853:S198I	S	-	2	0	ELL2	95268131	0.875000	0.30112	0.996000	0.52242	0.667000	0.39255	1.090000	0.30902	2.758000	0.94735	0.591000	0.81541	AGC	.		0.483	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		A	95242375	C	A	95242375	3	1	14	1	0	0	0	0	1	0	0	0	5079	797	28	3	1361	3	ELL2	5	95242375	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	5189576	95242375	85672885	37	1904											
DMXL1	1657	hgsc.bcm.edu	37	5	118485955	118485955	+	Missense_Mutation	SNP	C	C	A	rs376786107		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:118485955C>A	ENST00000311085.8	+	18	4513	c.4433C>A	c.(4432-4434)cCg>cAg	p.P1478Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.P1478Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1478										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)		CAGTACAGTCCGACTTACTTT	0.428																																					p.P1478Q		.											DMXL1,NS,carcinoma,0,1	DMXL1	0	0			c.C4433A						.						128	125	126					5																	118485955		2202	4300	6502	SO:0001583	missense	1657	exon18			ACAGTCCGACTTA	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.4433C>A	5.37:g.118485955C>A	ENSP00000309690:p.Pro1478Gln	65	0		34	2	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559204	0.65538	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.40476	1.03;1.03	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.71347	-0.4620	10	0.52906	T	0.07	-15.2311	19.5764	0.95446	0.0:1.0:0.0:0.0	.	1478;1478	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	1478	ENSP00000309690:P1478Q;ENSP00000439479:P1478Q	ENSP00000309690:P1478Q	P	+	2	0	DMXL1	118513854	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	2.705000	0.92388	0.557000	0.71058	CCG	.		0.428	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		A	118485955	C	A	118485955	3	1	14	1	0	0	0	0	1	0	0	0	4608	652	23	2	4503	2	DMXL1	5	118485955	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	23243580	118485955	62429305	38	1905											
SMAD5	4090	broad.mit.edu;ucsc.edu	37	5	135498966	135498966	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:135498966A>T	ENST00000545279.1	+	5	1021	c.661A>T	c.(661-663)Acg>Tcg	p.T221S	SMAD5_ENST00000545620.1_Missense_Mutation_p.T221S|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	221					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|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)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTAGCTGATACGCCTCCTCC	0.358																																					.													.	SMAD5	30	0			.						.						98	93	95					5																	135498966		1932	4154	6086	SO:0001583	missense	4090	.			GCTGATACGCCTC	U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"SMADs"	6771	protein-coding gene	gene with protein product		603110	"MAD, mothers against decapentaplegic homolog 5 (Drosophila)", "SMAD, mothers against DPP homolog 5 (Drosophila)"	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.661A>T	5.37:g.135498966A>T	ENSP00000441954:p.Thr221Ser	33	0		34	12	.	O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	ENST00000545279.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.528506|4.528506	0.85706|0.85706	.|.	.|.	ENSG00000113658|ENSG00000113658	ENST00000545279;ENST00000545620|ENST00000507637	D;D|.	0.92495|.	-3.05;-3.05|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.095677|.	0.64402|.	D|.	0.000001|.	T|T	0.63768|0.63768	0.2539|0.2539	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	B|.	0.31949|.	0.348|.	B|.	0.35413|.	0.202|.	T|T	0.59878|0.59878	-0.7371|-0.7371	10|5	0.34782|.	T|.	0.22|.	.|.	16.5885|16.5885	0.84745|0.84745	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	221|.	F5GWU7|.	.|.	S|F	221|43	ENSP00000441954:T221S;ENSP00000446474:T221S|.	ENSP00000425018:T221S|.	T|Y	+|+	1|2	0|0	SMAD5|SMAD5	135526865|135526865	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.817000|0.817000	0.46193|0.46193	8.679000|8.679000	0.91220|0.91220	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	ACG|TAC	.		0.358	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903		T	135498966	A	T	135498966	3	4	14	1	0	0	0	0	1	0	0	0	14806	391	14	5	671	5	SMAD5	5	135498966	Missense_Mutation	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	17013011	135498966	45416294	39	1906											
GRM6	2916	ucsc.edu	37	5	178413508	178413508	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:178413508A>G	ENST00000517717.1	-	9	1785	c.1747T>C	c.(1747-1749)Tcc>Ccc	p.S583P	GRM6_ENST00000231188.5_Missense_Mutation_p.S583P|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	583					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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;0.245)		GCCCAGGGGGAGGACCAGCTC	0.692																																					p.S583P													.	GRM6	149	0			c.T1747C						.						14	16	16					5																	178413508		2195	4291	6486	SO:0001583	missense	2916	exon8			AGGGGGAGGACCA	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1747T>C	5.37:g.178413508A>G	ENSP00000430767:p.Ser583Pro	29	3		40	6	NM_000843		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307509	0.81247	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89552	-2.53;-2.53	4.97	4.97	0.65823	.	.	.	.	.	D	0.94538	0.8241	M	0.86651	2.83	0.53688	D	0.999977	D;D	0.63046	0.992;0.989	D;P	0.73380	0.98;0.881	D	0.95106	0.8234	9	0.66056	D	0.02	.	12.902	0.58130	1.0:0.0:0.0:0.0	.	739;583	E7EX65;O15303	.;GRM6_HUMAN	P	739;583;583	ENSP00000231188:S583P;ENSP00000430767:S583P	ENSP00000231188:S583P	S	-	1	0	GRM6	178346114	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.294000	0.78760	1.992000	0.58205	0.379000	0.24179	TCC	.		0.692	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			G	178413508	A	G	178413508	3	3	14	1	0	0	0	0	1	0	0	0	6828	304	11	4	898	4	GRM6	5	178413508	Missense_Mutation	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	42914542	178413508	2501752	40	1907											
PHACTR1	221692	hgsc.bcm.edu	37	6	13053670	13053670	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:13053670C>T	ENST00000379350.1	+	4	453	c.324C>T	c.(322-324)cgC>cgT	p.R108R	PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000379345.2_5'UTR|PHACTR1_ENST00000332995.7_Silent_p.R108R|PHACTR1_ENST00000482982.1_3'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	108					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CACCCATCCGCAGGAGAAGTA	0.502																																					p.R108R		.											.	.	.	0			c.C324T						.						47	46	47					6																	13053670		1944	4138	6082	SO:0001819	synonymous_variant	221692	exon5			CATCCGCAGGAGA	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.324C>T	6.37:g.13053670C>T		127	0		100	3	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	C	9.321	1.058137	0.19987	.	.	ENSG00000112137	ENST00000406205	.	.	.	5.84	-5.21	0.02815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.6706	10.752	0.46216	0.275:0.533:0.1919:0.0	.	.	.	.	X	144	.	.	Q	+	1	0	PHACTR1	13161656	0.328000	0.24687	0.831000	0.32960	0.954000	0.61252	-0.240000	0.08952	-1.155000	0.02822	-1.161000	0.01788	CAG	.		0.502	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		T	13053670	C	T	13053670	2	4	14	1	0	0	0	0	0	0	0	1	11848	697	25	3		3	PHACTR1	6	13053670	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		13053670	158061397	41	1908											
C6orf62	81688	hgsc.bcm.edu	37	6	24706388	24706388	+	Missense_Mutation	SNP	G	G	T	rs372450488		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:24706388G>T	ENST00000378119.4	-	5	2834	c.667C>A	c.(667-669)Ctc>Atc	p.L223I	RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000378102.3_Missense_Mutation_p.L194I|C6orf62_ENST00000540769.1_Missense_Mutation_p.L165I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	223						intracellular (GO:0005622)		p.L223I(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TAAGGACGGAGGTGATCCTCT	0.443																																					p.L223I		.											C6orf62,NS,carcinoma,0,2	C6orf62	0	2	Substitution - Missense(2)	kidney(2)	c.C667A						.						131	112	119					6																	24706388		2203	4300	6503	SO:0001583	missense	81688	exon5			GACGGAGGTGATC	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.667C>A	6.37:g.24706388G>T	ENSP00000367359:p.Leu223Ile	51	0		33	2	NM_030939	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866619	0.72065	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.41065	1.01;1.01;1.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.49153	-0.8969	10	0.66056	D	0.02	-11.0338	20.8794	0.99867	0.0:0.0:1.0:0.0	.	223	Q9GZU0	CF062_HUMAN	I	223;165;194	ENSP00000367359:L223I;ENSP00000446225:L165I;ENSP00000367342:L194I	ENSP00000367342:L194I	L	-	1	0	C6orf62	24814367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.772000	0.98984	2.941000	0.99782	0.655000	0.94253	CTC	.		0.443	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		T	24706388	G	T	24706388	3	4	14	1	0	0	0	0	1	0	0	0	2375	1000	35	3	26	3	C6orf62	6	24706388	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	11652718	24706388	146408679	42	1909											
MOXD1	26002	hgsc.bcm.edu	37	6	132645229	132645229	+	Silent	SNP	T	T	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:132645229T>A	ENST00000367963.3	-	7	1072	c.954A>T	c.(952-954)atA>atT	p.I318I	MOXD1_ENST00000336749.3_Silent_p.I250I|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348																																					p.I318I		.											MOXD1_ENST00000336749,NS,carcinoma,0,2	MOXD1_ENST00000336749	0	0			c.A954T						.						86	88	87					6																	132645229		2203	4300	6503	SO:0001819	synonymous_variant	26002	exon7			ATTATCTATTAAG	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.954A>T	6.37:g.132645229T>A		54	0		24	2	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	CCDS5152.2																																																																																			.		0.348	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		A	132645229	T	A	132645229	2	1	14	1	0	0	0	0	0	0	0	1	9758	1512	53	5		5	MOXD1	6	132645229	Silent	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09	107938841	132645229	38469838	43	1910											
SHPRH	257218	hgsc.bcm.edu	37	6	146256253	146256253	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:146256253G>T	ENST00000367505.2	-	13	3044	c.2780C>A	c.(2779-2781)tCt>tAt	p.S927Y	SHPRH_ENST00000275233.7_Missense_Mutation_p.S927Y|SHPRH_ENST00000367503.3_Missense_Mutation_p.S927Y|SHPRH_ENST00000438092.2_Missense_Mutation_p.S927Y			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	927					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)	p.S927F(1)		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)		TTCCACTGGAGAAAAGTGGAG	0.418																																					p.S927Y		.											SHPRH_ENST00000367505,NS,carcinoma,0,2	SHPRH_ENST00000367505	0	1	Substitution - Missense(1)	lung(1)	c.C2780A						.						76	73	74					6																	146256253		1889	4123	6012	SO:0001583	missense	257218	exon13			ACTGGAGAAAAGT	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.2780C>A	6.37:g.146256253G>T	ENSP00000356475:p.Ser927Tyr	61	0		26	2	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569291	0.86439	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.91	5.05	0.67936	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.999;0.999	D	0.93653	0.6975	10	0.87932	D	0	-14.2731	14.9349	0.70948	0.0682:0.0:0.9318:0.0	.	816;927;927	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	Y	927	ENSP00000356475:S927Y;ENSP00000356473:S927Y;ENSP00000412797:S927Y;ENSP00000275233:S927Y	ENSP00000275233:S927Y	S	-	2	0	SHPRH	146297946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.513000	0.48852	0.655000	0.94253	TCT	.		0.418	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146256253	G	T	146256253	3	4	14	1	0	0	0	0	1	0	0	0	14336	942	33	3	2387	3	SHPRH	6	146256253	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	13611024	146256253	24858814	44	1911											
AKAP12	9590	hgsc.bcm.edu	37	6	151674611	151674611	+	Silent	SNP	G	G	T	rs569287283	byFrequency	TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:151674611G>T	ENST00000253332.1	+	3	5274	c.5085G>T	c.(5083-5085)ccG>ccT	p.P1695P	AKAP12_ENST00000354675.6_Silent_p.P1597P|AKAP12_ENST00000359755.5_Silent_p.P1590P|AKAP12_ENST00000402676.2_Silent_p.P1695P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1695					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)		TAGTTGAACCGAAAGAAGATG	0.473																																					p.P1695P	Melanoma(141;1616 1805 10049 24534 51979)	.											AKAP12,face,carcinoma,+1,1	AKAP12	+1	0			c.G5085T						.						73	63	66					6																	151674611		2203	4300	6503	SO:0001819	synonymous_variant	9590	exon4			TGAACCGAAAGAA	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.5085G>T	6.37:g.151674611G>T		58	0		30	2	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																			.		0.473	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			T	151674611	G	T	151674611	2	4	14	1	0	0	0	0	0	0	0	1	448	1045	37	2		2	AKAP12	6	151674611	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	5418358	151674611	19440456	45	1912											
GPR31	2853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	167570387	167570387	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:167570387A>C	ENST00000366834.1	-	1	1430	c.933T>G	c.(931-933)gaT>gaG	p.D311E		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	311					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)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TGGGGTTGAAATCTGGGGGCT	0.547																																					p.D311E		.											.	.	.	0			c.T933G						.						51	57	55					6																	167570387		2203	4300	6503	SO:0001583	missense	2853	exon1			GTTGAAATCTGGG	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.933T>G	6.37:g.167570387A>C	ENSP00000355799:p.Asp311Glu	50	0		21	16	NM_005299	B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	A	9.461	1.093196	0.20471	.	.	ENSG00000120436	ENST00000366834	T	0.59638	0.25	3.54	-3.68	0.04463	.	1.477200	0.04816	U	0.436094	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.05566	-1.0877	10	0.02654	T	1	-5.5216	4.9499	0.14009	0.4501:0.1595:0.3904:0.0	.	311	O00270	GPR31_HUMAN	E	311	ENSP00000355799:D311E	ENSP00000355799:D311E	D	-	3	2	GPR31	167490377	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.189000	0.09629	-0.986000	0.03498	0.260000	0.18958	GAT	.		0.547	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		C	167570387	A	C	167570387	3	2	14	1	0	0	0	0	1	0	0	0	6713	98	4	4	29	4	GPR31	6	167570387	Missense_Mutation	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	15895776	167570387	3544680	46	1913											
NPVF	64111	hgsc.bcm.edu	37	7	25266573	25266573	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:25266573T>C	ENST00000222674.2	-	2	257	c.211A>G	c.(211-213)Att>Gtt	p.I71V		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	71					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCATCTTAATAACATTTTTT	0.393																																					p.I71V		.											NPVF,NS,carcinoma,+2,9	NPVF	+2	0			c.A211G						.						129	135	133					7																	25266573		2203	4300	6503	SO:0001583	missense	64111	exon2			TCTTAATAACATT	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.211A>G	7.37:g.25266573T>C	ENSP00000222674:p.Ile71Val	101	1		50	3	NM_022150	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	T	9.063	0.994869	0.19043	.	.	ENSG00000105954	ENST00000222674	T	0.26810	1.71	5.55	1.46	0.22682	.	1.297180	0.04883	N	0.448070	T	0.26484	0.0647	L	0.60455	1.87	0.09310	N	1	B	0.33171	0.4	B	0.30855	0.121	T	0.28522	-1.0041	10	0.30854	T	0.27	-13.3194	8.7071	0.34360	0.1175:0.0:0.3648:0.5178	.	71	Q9HCQ7	RFRP_HUMAN	V	71	ENSP00000222674:I71V	ENSP00000222674:I71V	I	-	1	0	NPVF	25233098	0.211000	0.23529	0.003000	0.11579	0.940000	0.58332	0.330000	0.19715	0.433000	0.26313	0.533000	0.62120	ATT	.		0.393	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		C	25266573	T	C	25266573	3	2	14	1	0	0	0	0	1	0	0	0	10644	1406	49	4	387	4	NPVF	7	25266573	Missense_Mutation	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09		25266573	133872090	47	1914											
NFE2L3	9603	hgsc.bcm.edu	37	7	26224872	26224872	+	Silent	SNP	G	G	T	rs373484767		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:26224872G>T	ENST00000056233.3	+	4	1813	c.1554G>T	c.(1552-1554)ggG>ggT	p.G518G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	518					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						CGTGGCCTGGGAAGTCACAGA	0.428																																					p.G518G		.											.	.	.	0			c.G1554T						.						111	104	106					7																	26224872		2203	4300	6503	SO:0001819	synonymous_variant	9603	exon4			GCCTGGGAAGTCA	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.1554G>T	7.37:g.26224872G>T		79	0		73	4	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	CCDS5396.1																																																																																			.		0.428	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			T	26224872	G	T	26224872	2	4	14	1	0	0	0	0	0	0	0	1	10408	1161	41	3		3	NFE2L3	7	26224872	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	958299	26224872	132913791	48	1915											
C7orf10	79783	bcgsc.ca	37	7	40277290	40277290	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:40277290G>A	ENST00000335693.4	+	7	585	c.562G>A	c.(562-564)Gct>Act	p.A188T	C7orf10_ENST00000401647.2_Missense_Mutation_p.A188T|C7orf10_ENST00000309930.5_Missense_Mutation_p.A188T	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		188					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTTGCCTCGGCTGTTTCTGG	0.423																																					p.A188T													.	C7orf10	99	0			c.G562A						.						173	161	165					7																	40277290		1961	4168	6129	SO:0001583	missense	79783	exon7			GCCTCGGCTGTTT																												ENST00000335693.4:c.562G>A	7.37:g.40277290G>A	ENSP00000338475:p.Ala188Thr	86	0		67	4	NM_001193313	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771011	0.90108	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.92446	-3.04;-0.4;-0.4	5.35	5.35	0.76521	CoA-transferase family III domain (2);	0.093782	0.64402	N	0.000001	D	0.97377	0.9142	H	0.95365	3.66	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.70227	0.968;0.964;0.947	D	0.98274	1.0505	10	0.87932	D	0	-8.1766	19.0288	0.92946	0.0:0.0:1.0:0.0	.	188;188;151	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	T	188	ENSP00000312054:A188T;ENSP00000385222:A188T;ENSP00000338475:A188T	ENSP00000312054:A188T	A	+	1	0	C7orf10	40243815	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.243000	0.72384	2.675000	0.91044	0.655000	0.94253	GCT	.		0.423	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			A	40277290	G	A	40277290	3	1	14	1	0	0	0	0	1	0	0	0	2383	1203	42	3	477	3	C7orf10	7	40277290	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	14052418	40277290	118861373	49	1916											
SAMD9	54809	hgsc.bcm.edu	37	7	92733180	92733180	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:92733180G>T	ENST00000379958.2	-	3	2500	c.2231C>A	c.(2230-2232)aCt>aAt	p.T744N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	744						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.T744S(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)			AGCCAAGGTAGTTCCCCCACA	0.388																																					p.T744N		.											SAMD9,NS,carcinoma,0,1	SAMD9	0	1	Substitution - Missense(1)	breast(1)	c.C2231A						.						228	216	220					7																	92733180		2203	4300	6503	SO:0001583	missense	54809	exon2			AAGGTAGTTCCCC	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.2231C>A	7.37:g.92733180G>T	ENSP00000369292:p.Thr744Asn	125	0		60	3	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613888	0.66672	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.92699	-3.09;-3.09	4.44	4.44	0.53790	.	0.179641	0.34828	U	0.003642	D	0.95500	0.8538	M	0.78049	2.395	0.40625	D	0.981802	D	0.76494	0.999	D	0.67725	0.953	D	0.96348	0.9256	10	0.72032	D	0.01	.	15.7702	0.78162	0.0:0.0:1.0:0.0	.	744	Q5K651	SAMD9_HUMAN	N	744	ENSP00000369292:T744N;ENSP00000414529:T744N	ENSP00000369292:T744N	T	-	2	0	SAMD9	92571116	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.002000	0.70693	2.303000	0.77524	0.609000	0.83330	ACT	.		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92733180	G	T	92733180	3	4	14	1	0	0	0	0	1	0	0	0	13871	1029	36	3	2542	3	SAMD9	7	92733180	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	52455890	92733180	66405483	50	1917											
DLD	1738	hgsc.bcm.edu;bcgsc.ca	37	7	107557754	107557754	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:107557754G>A	ENST00000205402.5	+	11	1364	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	DLD_ENST00000437604.2_Missense_Mutation_p.M313I|DLD_ENST00000537148.1_Missense_Mutation_p.M262I|DLD_ENST00000440410.1_Missense_Mutation_p.M338I	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	361					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	CTGGTCCAATGCTGGCTCACA	0.418																																					p.M361I		.											.	.	.	0			c.G1083A						.						250	209	223					7																	107557754		2203	4300	6503	SO:0001583	missense	1738	exon11			TCCAATGCTGGCT	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.1083G>A	7.37:g.107557754G>A	ENSP00000205402:p.Met361Ile	54	0		40	4	NM_000108	B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253875	0.95336	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.70045	-0.22;-0.22;-0.31;-0.22;-0.45	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	H	0.96720	3.87	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	D;D;D	0.91635	0.999;0.991;0.995	D	0.91731	0.5396	10	0.87932	D	0	-7.3583	20.3151	0.98650	0.0:0.0:1.0:0.0	.	338;313;361	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	I	361;361;262;338;313;311	ENSP00000205402:M361I;ENSP00000390667:M361I;ENSP00000442399:M262I;ENSP00000417016:M338I;ENSP00000387542:M313I	ENSP00000205402:M361I	M	+	3	0	DLD	107344990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.809000	0.96659	0.467000	0.42956	ATG	.		0.418	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		A	107557754	G	A	107557754	3	1	14	1	0	0	0	0	1	0	0	0	4565	1319	46	3	1125	3	DLD	7	107557754	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	14824574	107557754	51580909	51	1918											
CHRM2	1129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	136699781	136699781	+	Missense_Mutation	SNP	G	G	A	rs143842239		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:136699781G>A	ENST00000445907.2	+	3	697	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V57I|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V57I|CHRM2_ENST00000402486.3_Missense_Mutation_p.V57I|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.V57I|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V57I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	57					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)	CCTCCAGACCGTCAACAATTA	0.463													G|||	1	0.000199681	0	0	5008	,	,		19513	0		0.001	False		,,,				2504	0				p.V57I		.											CHRM2,NS,adenocarcinoma,0,2	CHRM2	0	0			c.G169A						.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	208	174	186		169,169,169,169,169,169,169,169	5.3	1	7	dbSNP_134	186	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	CHRM2	NM_000739.2,NM_001006626.1,NM_001006627.1,NM_001006628.1,NM_001006629.1,NM_001006630.1,NM_001006631.1,NM_001006632.1	29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	57/467,57/467,57/467,57/467,57/467,57/467,57/467,57/467	136699781	1,13005	2203	4300	6503	SO:0001583	missense	1129	exon3			CAGACCGTCAACA		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.169G>A	7.37:g.136699781G>A	ENSP00000399745:p.Val57Ile	65	0		32	9	NM_001006632	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073559	0.76415	2.27E-4	0.0	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.59912	1.85	0.80722	D	1	D	0.60575	0.988	P	0.51895	0.683	T	0.05869	-1.0859	10	0.51188	T	0.08	-3.034	19.0529	0.93053	0.0:0.0:1.0:0.0	.	57	P08172	ACM2_HUMAN	I	57	ENSP00000399745:V57I;ENSP00000415386:V57I;ENSP00000319984:V57I;ENSP00000380733:V57I;ENSP00000384937:V57I;ENSP00000384401:V57I	ENSP00000319984:V57I	V	+	1	0	CHRM2	136350321	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	9.766000	0.98957	2.502000	0.84385	0.585000	0.79938	GTC	0.000		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			A	136699781	G	A	136699781	3	1	14	1	0	0	0	0	1	0	0	0	3384	1145	40	1	171	1	CHRM2	7	136699781	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	29142027	136699781	22438882	52	1919											
TRIM55	84675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	67039583	67039583	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:67039583C>T	ENST00000315962.4	+	1	453	c.80C>T	c.(79-81)cCc>cTc	p.P27L	TRIM55_ENST00000276573.7_Missense_Mutation_p.P27L|TRIM55_ENST00000353317.5_Missense_Mutation_p.P27L|TRIM55_ENST00000350034.4_Missense_Mutation_p.P27L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	27					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)			CTCATCTGTCCCATCTGCTTA	0.448																																					p.P27L		.											.	.	.	0			c.C80T						.						197	194	195					8																	67039583		2203	4300	6503	SO:0001583	missense	84675	exon1			TCTGTCCCATCTG	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.80C>T	8.37:g.67039583C>T	ENSP00000323913:p.Pro27Leu	49	0		53	18	NM_184086	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094428	0.94149	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.53	5.53	0.82687	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	0.46288	0.1385	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.38457	-0.9660	10	0.87932	D	0	.	19.4485	0.94857	0.0:1.0:0.0:0.0	.	27;27;27;27	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	L	27	ENSP00000323913:P27L;ENSP00000297348:P27L;ENSP00000276573:P27L;ENSP00000332302:P27L	ENSP00000276573:P27L	P	+	2	0	TRIM55	67202137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.583000	0.87209	0.655000	0.94253	CCC	.		0.448	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		T	67039583	C	T	67039583	3	4	14	1	0	0	0	0	1	0	0	0	16577	623	22	3	82	3	TRIM55	8	67039583	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		67039583	79324439	53	1920											
PREX2	80243	hgsc.bcm.edu	37	8	68984774	68984774	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:68984774C>T	ENST00000288368.4	+	14	1815	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	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	513	DEP 2. {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						GTGGTCATGGCCAACAAACTG	0.338																																					p.A513V		.											.	.	.	0			c.C1538T						.						127	133	131					8																	68984774		2203	4300	6503	SO:0001583	missense	80243	exon14			TCATGGCCAACAA	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.1538C>T	8.37:g.68984774C>T	ENSP00000288368:p.Ala513Val	117	0		98	4	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440998	0.96168	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.15834	2.39	5.76	5.76	0.90799	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.991;0.991;0.984	T	0.48019	-0.9071	10	0.87932	D	0	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	513;513;513	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	V	513	ENSP00000288368:A513V	ENSP00000288368:A513V	A	+	2	0	PREX2	69147328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.800000	0.85949	2.721000	0.93114	0.591000	0.81541	GCC	.		0.338	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		T	68984774	C	T	68984774	3	4	14	1	0	0	0	0	1	0	0	0	12519	739	26	3	1592	3	PREX2	8	68984774	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	1945191	68984774	77379248	54	1921											
NCOA2	10499	hgsc.bcm.edu	37	8	71068239	71068239	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:71068239C>T	ENST00000452400.2	-	11	2542	c.2361G>A	c.(2359-2361)gaG>gaA	p.E787E	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	787					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCTCCTCCTTCTCAGTTTTCA	0.413			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																p.E787E		.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	NCOA2,NS,carcinoma,0,1	NCOA2	0	0			c.G2361A						.						63	65	64					8																	71068239		1878	4113	5991	SO:0001819	synonymous_variant	10499	exon11			CTCCTTCTCAGTT	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2361G>A	8.37:g.71068239C>T		54	0		47	2	NM_006540	Q14CD2	Silent	SNP	ENST00000452400.2	37	CCDS47872.1																																																																																			.		0.413	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			T	71068239	C	T	71068239	2	4	14	1	0	0	0	0	0	0	0	1	10268	912	32	3		3	NCOA2	8	71068239	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	2083465	71068239	75295783	55	1922											
ZFHX4	79776	bcgsc.ca	37	8	77761880	77761880	+	Missense_Mutation	SNP	C	C	T	rs527426758		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:77761880C>T	ENST00000521891.2	+	8	4226	c.3778C>T	c.(3778-3780)Cat>Tat	p.H1260Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1215Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1215Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1234Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1215					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)			CAACAAAATGCATCTCCAACT	0.498										HNSCC(33;0.089)																											p.H1260Y													.	ZFHX4	878	0			c.C3778T						.						104	98	100					8																	77761880		2065	4219	6284	SO:0001583	missense	79776	exon8			AAAATGCATCTCC		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.3778C>T	8.37:g.77761880C>T	ENSP00000430497:p.His1260Tyr	43	0		39	4	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061495	0.55432	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.71;0.68;0.67	4.38	4.38	0.52667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.43919	U	0.000515	T	0.61974	0.2390	L	0.56396	1.775	0.80722	D	1	D;D;D	0.61697	0.982;0.979;0.99	P;P;P	0.60236	0.747;0.784;0.871	T	0.64210	-0.6461	10	0.49607	T	0.09	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	1215;1215;1260	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	1260;1260;1215;1215;1234	ENSP00000430497:H1260Y;ENSP00000399605:H1215Y;ENSP00000050961:H1215Y;ENSP00000430848:H1234Y	ENSP00000050961:H1215Y	H	+	1	0	ZFHX4	77924435	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.417000	0.82017	0.555000	0.69702	CAT	.		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77761880	C	T	77761880	3	4	14	1	0	0	0	0	1	0	0	0	17683	710	25	3	3804	3	ZFHX4	8	77761880	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	6693641	77761880	68602142	56	1923											
LRRCC1	85444	hgsc.bcm.edu	37	8	86022348	86022348	+	Splice_Site	SNP	A	A	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:86022348A>T	ENST00000360375.3	+	3	459		c.e3-1		LRRCC1_ENST00000414626.2_Splice_Site	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244																																					.		.											LRRCC1_ENST00000414626,NS,carcinoma,0,2	LRRCC1_ENST00000414626	0	4	Unknown(4)	kidney(4)	c.311-2A>T						.						53	48	49					8																	86022348		1779	4047	5826	SO:0001630	splice_region_variant	85444	exon3			TTTTTTAGGACTT	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.311-1A>T	8.37:g.86022348A>T		33	0		42	2	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Splice_Site	SNP	ENST00000360375.3	37	CCDS43750.1																																																																																			.		0.244	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Intron	T	86022348	A	T	86022348	5	4	14	1	0	0	0	0	0	0	1	0	9061	434	15	5	319	5	LRRCC1	8	86022348	Splice_Site	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	8260468	86022348	60341674	57	1924											
ENPP2	5168	hgsc.bcm.edu;bcgsc.ca	37	8	120602791	120602791	+	Silent	SNP	A	A	G	rs372866542		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:120602791A>G	ENST00000075322.6	-	13	1219	c.1161T>C	c.(1159-1161)ccT>ccC	p.P387P	ENPP2_ENST00000427067.2_Silent_p.P383P|ENPP2_ENST00000522167.1_Silent_p.P26P|ENPP2_ENST00000522826.1_Silent_p.P387P|ENPP2_ENST00000259486.6_Silent_p.P439P	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	387					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)			CTAGAGTTCCAGGCACTAAAG	0.348																																					p.P439P	Melanoma(20;305 879 2501 4818 31020)	.											.	.	.	0			c.T1317C						.						98	97	97					8																	120602791		2203	4300	6503	SO:0001819	synonymous_variant	5168	exon14			AGTTCCAGGCACT	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.1161T>C	8.37:g.120602791A>G		93	0		71	4	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																			.		0.348	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			G	120602791	A	G	120602791	2	3	14	1	0	0	0	0	0	0	0	1	5146	175	7	4		4	ENPP2	8	120602791	Silent	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	34580443	120602791	25761231	58	1925											
BNC2	54796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	16419547	16419547	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:16419547C>T	ENST00000380672.4	-	7	2797	c.2740G>A	c.(2740-2742)Gat>Aat	p.D914N	BNC2_ENST00000380667.2_Missense_Mutation_p.D847N|BNC2_ENST00000545497.1_Missense_Mutation_p.D819N	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)		AAAAATTCATCGCGGAGGTCC	0.542																																					p.D914N		.											BNC2,NS,carcinoma,0,1	BNC2	0	0			c.G2740A						.						87	93	91					9																	16419547		2203	4300	6503	SO:0001583	missense	54796	exon7			ATTCATCGCGGAG	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.2740G>A	9.37:g.16419547C>T	ENSP00000370047:p.Asp914Asn	83	0		28	25	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501312	0.44455	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.32023	1.47;1.48;1.48	5.5	5.5	0.81552	.	0.049731	0.85682	D	0.000000	T	0.19685	0.0473	N	0.25647	0.755	0.80722	D	1	P;P;P	0.50443	0.935;0.892;0.892	B;B;B	0.33339	0.162;0.105;0.105	T	0.05886	-1.0858	10	0.17832	T	0.49	-16.314	19.3932	0.94594	0.0:1.0:0.0:0.0	.	819;914;679	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	N	914;847;819	ENSP00000370047:D914N;ENSP00000370042:D847N;ENSP00000444640:D819N	ENSP00000370042:D847N	D	-	1	0	BNC2	16409547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.037000	0.70956	2.586000	0.87340	0.591000	0.81541	GAT	.		0.542	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16419547	C	T	16419547	3	4	14	1	0	0	0	0	1	0	0	0	1477	884	31	1	563	1	BNC2	9	16419547	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		16419547	124793884	59	1926											
TAF1L	138474	hgsc.bcm.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	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	598					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)	p.Q597_G598>HC(2)		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)		CCCCGAAGACCCTGTTGCTTG	0.478																																					p.G598C		.											.,1	.	382	2	Complex - compound substitution(2)	lung(2)	c.G1792T						.						174	181	179					9																	32633786		2203	4300	6503	SO:0001583	missense	138474	exon1			GAAGACCCTGTTG	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.1792G>T	9.37:g.32633786C>A	ENSP00000418379:p.Gly598Cys	62	0		26	2	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137520	0.37728	.	.	ENSG00000122728	ENST00000242310	T	0.14144	2.53	1.04	-0.0542	0.13815	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	L	0.43152	1.355	0.43211	D	0.995073	D	0.76494	0.999	D	0.72075	0.976	T	0.03278	-1.1053	10	0.59425	D	0.04	.	4.9434	0.13976	0.0:0.7269:0.0:0.2731	.	598	Q8IZX4	TAF1L_HUMAN	C	598	ENSP00000418379:G598C	ENSP00000418379:G598C	G	-	1	0	TAF1L	32623786	0.943000	0.32029	0.873000	0.34254	0.217000	0.24651	3.420000	0.52735	0.507000	0.28148	0.195000	0.17529	GGT	.		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32633786	C	A	32633786	3	1	14	1	0	0	0	0	1	0	0	0	15570	623	22	3	3692	3	TAF1L	9	32633786	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	16214239	32633786	108579645	60	1927											
CA9	768	ucsc.edu;bcgsc.ca	37	9	35676345	35676345	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:35676345G>T	ENST00000378357.4	+	5	903	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	267	Catalytic.				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)	CGAGGCCTTGGGGCGCCCGGG	0.652																																					p.G267W													.	CA9	48	0			c.G799T						.						120	125	123					9																	35676345		2203	4300	6503	SO:0001583	missense	768	exon5			GCCTTGGGGCGCC	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.799G>T	9.37:g.35676345G>T	ENSP00000367608:p.Gly267Trp	58	0		27	4	NM_001216	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145725	0.57044	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.67698	-0.28	4.85	4.85	0.62838	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.082725	0.49916	D	0.000139	T	0.82093	0.4962	M	0.82517	2.595	0.46011	D	0.998816	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	D	0.84399	0.0559	10	0.87932	D	0	.	13.6467	0.62286	0.0:0.0:1.0:0.0	.	267;267	F5H404;Q16790	.;CAH9_HUMAN	W	267	ENSP00000367608:G267W	ENSP00000367608:G267W	G	+	1	0	CA9	35666345	0.998000	0.40836	0.999000	0.59377	0.019000	0.09904	1.782000	0.38654	2.676000	0.91093	0.655000	0.94253	GGG	.		0.652	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		T	35676345	G	T	35676345	3	4	14	1	0	0	0	0	1	0	0	0	2531	1232	43	3	817	3	CA9	9	35676345	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	3042559	35676345	105537086	61	1928											
C9orf7	11094	broad.mit.edu	37	9	136325237	136325237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:136325237delC	ENST00000316948.4	+	1	129	c.49delC	c.(49-51)cccfs	p.P17fs	CACFD1_ENST00000291722.7_Frame_Shift_Del_p.P17fs|CACFD1_ENST00000540581.1_Frame_Shift_Del_p.P17fs|CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000542192.1_Frame_Shift_Del_p.P17fs	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	17					synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										CTCTGCGCCGCCCGCGCAGGA	0.706																																					p.P17fs													.	CACFD1	1	0			c.49delC						.						19	22	21					9																	136325237		2134	4222	6356	SO:0001589	frameshift_variant	11094	exon1			GCGCCGCCCGCGC		CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"chromosome 9 open reading frame 7"	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.49delC	9.37:g.136325237delC	ENSP00000317121:p.Pro17fs	15	0		5	2	NM_001242370	B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Frame_Shift_Del	DEL	ENST00000316948.4	37	CCDS6974.1																																																																																			.		0.706	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1	NM_017586		-	136325237	C	-	136325237	7	5	14	1	0	1	0	1	0	0	0	0	2500	739	26	0	51	0	C9orf7	9	136325237	Frame_Shift_Del	DEL	C	TCGA-W5-AA2T-01A-12D-A417-09	100648892	136325237	4888194	62	1929											
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	137710726	137710726	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:137710726G>A	ENST00000371817.3	+	56	4785	c.4371G>A	c.(4369-4371)ccG>ccA	p.P1457P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1457	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)		CCCCAGGCCCGGACGGTCCCC	0.627																																					p.P1457P		.											.	.	.	0			c.G4371A						.						51	50	50					9																	137710726		2203	4300	6503	SO:0001819	synonymous_variant	1289	exon56			AGGCCCGGACGGT	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.4371G>A	9.37:g.137710726G>A		80	0		15	11	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			.		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137710726	G	A	137710726	2	1	14	1	0	0	0	0	0	0	0	1	3703	1103	39	1		1	COL5A1	9	137710726	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	1385489	137710726	3502705	63	1930											
NEBL	10529	hgsc.bcm.edu;bcgsc.ca	37	10	21169808	21169808	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:21169808G>T	ENST00000377122.4	-	5	791	c.395C>A	c.(394-396)gCt>gAt	p.A132D	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.A132D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	132				KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858). {ECO:0000305}.	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						TCCTTTGGCAGCATCATGTTT	0.413																																					p.A132D		.											.	.	.	0			c.C395A						.						131	131	131					10																	21169808		2203	4300	6503	SO:0001583	missense	10529	exon5			TTGGCAGCATCAT	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.395C>A	10.37:g.21169808G>T	ENSP00000366326:p.Ala132Asp	127	0		62	4	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665700	0.88251	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.45668	3.49;0.89;1.22	5.8	5.8	0.92144	.	0.193154	0.47093	D	0.000247	T	0.55000	0.1893	M	0.69823	2.125	0.80722	D	1	P	0.38745	0.645	P	0.45071	0.468	T	0.54302	-0.8314	10	0.51188	T	0.08	.	20.0522	0.97631	0.0:0.0:1.0:0.0	.	132	O76041	NEBL_HUMAN	D	132;132;116	ENSP00000366326:A132D;ENSP00000366323:A132D;ENSP00000396512:A116D	ENSP00000366323:A132D	A	-	2	0	NEBL	21209814	1.000000	0.71417	0.634000	0.29324	0.825000	0.46686	7.159000	0.77483	2.737000	0.93849	0.563000	0.77884	GCT	.		0.413	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		T	21169808	G	T	21169808	3	4	14	1	0	0	0	0	1	0	0	0	10342	971	34	3	2745	3	NEBL	10	21169808	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		21169808	114364939	64	1931											
LGI1	9211	hgsc.bcm.edu	37	10	95557554	95557554	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:95557554C>T	ENST00000371418.4	+	8	1928	c.1668C>T	c.(1666-1668)agC>agT	p.S556S	LGI1_ENST00000542308.1_Silent_p.S508S|LGI1_ENST00000371413.3_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	556					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)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTGACTTAAGCGCATGAGACA	0.373																																					p.S556S		.											LGI1,NS,carcinoma,0,1	LGI1	0	0			c.C1668T						.						41	44	43					10																	95557554		2199	4285	6484	SO:0001819	synonymous_variant	9211	exon8			CTTAAGCGCATGA	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.1668C>T	10.37:g.95557554C>T		50	0		45	2	NM_005097	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	CCDS7431.1																																																																																			.		0.373	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		T	95557554	C	T	95557554	2	4	14	1	0	0	0	0	0	0	0	1	8780	767	27	1		1	LGI1	10	95557554	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	74387746	95557554	39977193	65	1932											
ITPRIP	85450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	106074385	106074385	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:106074385G>A	ENST00000337478.1	-	2	1596	c.1425C>T	c.(1423-1425)caC>caT	p.H475H	ITPRIP_ENST00000278071.2_Silent_p.H475H|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Silent_p.H475H	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	475						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAAGAAGTGGTGGAGCTTCT	0.652																																					p.H475H		.											.	.	.	0			c.C1425T						.						60	64	62					10																	106074385		2203	4300	6503	SO:0001819	synonymous_variant	85450	exon2			GAAGTGGTGGAGC	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1425C>T	10.37:g.106074385G>A		21	0		15	8	NM_001272013	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	CCDS7557.1																																																																																			.		0.652	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		A	106074385	G	A	106074385	2	1	14	1	0	0	0	0	0	0	0	1	7950	1252	44	3		3	ITPRIP	10	106074385	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	10516831	106074385	29460362	66	1933											
SCUBE2	57758	hgsc.bcm.edu	37	11	9101052	9101052	+	Silent	SNP	G	G	A	rs548017893		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:9101052G>A	ENST00000309263.3	-	3	333	c.261C>T	c.(259-261)atC>atT	p.I87I	SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000520467.1_Silent_p.I87I|SCUBE2_ENST00000450649.2_Silent_p.I87I|SCUBE2_ENST00000457346.2_Silent_p.I87I			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	87	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I87I(1)		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)		CACATTCATCGATGTCTGAGG	0.413													G|||	1	0.000199681	0	0.0014	5008	,	,		21431	0		0	False		,,,				2504	0				p.I87I		.											SCUBE2_ENST00000457346,NS,carcinoma,0,2	SCUBE2_ENST00000457346	0	1	Substitution - coding silent(1)	lung(1)	c.C261T						.						193	166	175					11																	9101052		2201	4296	6497	SO:0001819	synonymous_variant	57758	exon3			TTCATCGATGTCT	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.261C>T	11.37:g.9101052G>A		65	1		34	2	NM_001170690	Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37																																																																																				.		0.413	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		A	9101052	G	A	9101052	2	1	14	1	0	0	0	0	0	0	0	1	13990	1048	37	1		1	SCUBE2	11	9101052	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		9101052	125905464	67	1934											
MED19	219541	broad.mit.edu	37	11	57472100	57472100	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:57472100G>T	ENST00000337672.2	-	4	600	c.579C>A	c.(577-579)ccC>ccA	p.P193P	MED19_ENST00000431606.2_Intron	NM_153450.1	NP_703151.1	A0JLT2	MED19_HUMAN	mediator complex subunit 19	193	Lys-rich.					mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GAACTTAACTGGGTTTACCTA	0.423																																					p.P193P													.	MED19	15	0			c.C579A						.						82	83	82					11																	57472100		2201	4296	6497	SO:0001819	synonymous_variant	219541	exon4			TTAACTGGGTTTA	AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000337672.2:c.579C>A	11.37:g.57472100G>T		79	0		47	4	NM_153450	Q8IV02|Q8IZD1	Silent	SNP	ENST00000337672.2	37	CCDS7966.1																																																																																			.		0.423	MED19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393701.1	NM_153450		T	57472100	G	T	57472100	2	4	14	1	0	0	0	0	0	0	0	1	9475	1335	47	3		3	MED19	11	57472100	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	48371048	57472100	77534416	68	1935											
EML3	256364	hgsc.bcm.edu	37	11	62378802	62378802	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:62378802G>T	ENST00000394773.2	-	3	516	c.209C>A	c.(208-210)cCa>cAa	p.P70Q	EML3_ENST00000494176.2_Missense_Mutation_p.P42Q|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.P70Q|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.P71Q	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	70						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						TGGCAGTCCTGGGGGGGCTGC	0.607																																					p.P70Q		.											.,1	.	61	0			c.C209A						.						27	30	29					11																	62378802		2199	4295	6494	SO:0001583	missense	256364	exon3			AGTCCTGGGGGGG	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.209C>A	11.37:g.62378802G>T	ENSP00000378254:p.Pro70Gln	98	0		70	3	NM_153265	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527055	0.44969	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857	T;T;T;T	0.41758	1.75;1.74;0.99;1.64	5.05	4.14	0.48551	.	0.303076	0.28166	N	0.016345	T	0.46776	0.1410	N	0.24115	0.695	0.33678	D	0.611722	D;D;D;D	0.71674	0.998;0.997;0.998;0.998	D;P;D;D	0.76071	0.962;0.879;0.987;0.962	T	0.58945	-0.7546	10	0.51188	T	0.08	-16.4395	9.7344	0.40379	0.097:0.0:0.903:0.0	.	70;70;71;42	Q32P44-2;Q32P44;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.	Q	70;71;42;70;41;42;41	ENSP00000378254:P70Q;ENSP00000278845:P71Q;ENSP00000435064:P42Q;ENSP00000434513:P70Q	ENSP00000278845:P71Q	P	-	2	0	EML3	62135378	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	3.397000	0.52572	1.270000	0.44297	0.462000	0.41574	CCA	.		0.607	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		T	62378802	G	T	62378802	3	4	14	1	0	0	0	0	1	0	0	0	5114	1348	47	3	2561	3	EML3	11	62378802	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	4906702	62378802	72627714	69	1936											
HNRNPUL2	221092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62490357	62490357	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:62490357T>C	ENST00000301785.5	-	5	1102	c.910A>G	c.(910-912)Atg>Gtg	p.M304V	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.M304V	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTTCTTTCATTGGGAGATTC	0.423																																					p.M304V		.											.	.	.	0			c.A910G						.						86	85	85					11																	62490357		1867	4096	5963	SO:0001583	missense	221092	exon5			CTTTCATTGGGAG		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.910A>G	11.37:g.62490357T>C	ENSP00000301785:p.Met304Val	53	0		45	21	NM_001079559	Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	T	0.735	-0.778324	0.02929	.	.	ENSG00000214753	ENST00000301785	T	0.66638	-0.22	5.25	0.378	0.16204	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.423460	0.27469	N	0.019223	T	0.13286	0.0322	N	0.00039	-2.505	0.26234	N	0.978966	B	0.10296	0.003	B	0.04013	0.001	T	0.46527	-0.9185	10	0.02654	T	1	-5.3097	0.9345	0.01342	0.1438:0.1789:0.2708:0.4065	.	304	Q1KMD3	HNRL2_HUMAN	V	304	ENSP00000301785:M304V	ENSP00000301785:M304V	M	-	1	0	HNRNPUL2	62246933	0.199000	0.23386	1.000000	0.80357	0.998000	0.95712	-0.220000	0.09215	0.478000	0.27488	0.528000	0.53228	ATG	.		0.423	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		C	62490357	T	C	62490357	3	2	14	1	0	0	0	0	1	0	0	0	7302	1493	52	4	1373	4	HNRNPUL2	11	62490357	Missense_Mutation	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09	111555	62490357	72516159	70	1937											
CLNS1A	1207	ucsc.edu	37	11	77336767	77336767	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:77336767G>T	ENST00000525428.1	-	3	449	c.359C>A	c.(358-360)tCa>tAa	p.S120*	CLNS1A_ENST00000532069.1_Intron|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000528364.1_Nonsense_Mutation_p.S120*|CLNS1A_ENST00000525064.1_Nonsense_Mutation_p.S120*	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	120					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CTCACACGCTGATTTATCACT	0.398																																					p.S120X													.	CLNS1A	18	0			c.C359A						.						124	101	109					11																	77336767		2200	4292	6492	SO:0001587	stop_gained	1207	exon3			CACGCTGATTTAT	U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.359C>A	11.37:g.77336767G>T	ENSP00000433919:p.Ser120*	49	0		25	4	NM_001293	B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Nonsense_Mutation	SNP	ENST00000525428.1	37	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598396	0.96614	.	.	ENSG00000074201	ENST00000525428;ENST00000525064;ENST00000528364	.	.	.	5.09	4.18	0.49190	.	0.273829	0.35677	N	0.003055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9051	13.872	0.63624	0.0741:0.0:0.9259:0.0	.	.	.	.	X	120	.	ENSP00000433741:S120X	S	-	2	0	CLNS1A	77014415	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.820000	0.69250	1.303000	0.44873	-0.384000	0.06662	TCA	.		0.398	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293		T	77336767	G	T	77336767	4	4	14	1	0	0	0	0	0	1	0	0	3555	1294	45	3	370	3	CLNS1A	11	77336767	Nonsense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	14846410	77336767	57669749	71	1938											
USP35	57558	hgsc.bcm.edu	37	11	77921399	77921399	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:77921399T>C	ENST00000529308.1	+	10	2759	c.2498T>C	c.(2497-2499)cTc>cCc	p.L833P	USP35_ENST00000530267.1_Missense_Mutation_p.L401P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.L564P|USP35_ENST00000441408.2_Missense_Mutation_p.L419P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	833	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)			CCCCTGCTGCTCCGCCTGCCA	0.622																																					p.L833P		.											.,2	.	179	0			c.T2498C						.						71	78	76					11																	77921399		2073	4177	6250	SO:0001583	missense	57558	exon10			TGCTGCTCCGCCT	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.2498T>C	11.37:g.77921399T>C	ENSP00000431876:p.Leu833Pro	21	2		312	29	NM_020798		Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907714	0.72868	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.42	4.42	0.53409	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.51477	D	0.000099	T	0.53029	0.1771	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.64470	-0.6400	10	0.87932	D	0	-33.6924	13.8385	0.63424	0.0:0.0:0.0:1.0	.	833;419	Q9P2H5;E7EWV7	UBP35_HUMAN;.	P	401;833;419;564	ENSP00000435468:L401P;ENSP00000431876:L833P;ENSP00000400825:L419P;ENSP00000434942:L564P	ENSP00000400825:L419P	L	+	2	0	USP35	77599047	1.000000	0.71417	0.992000	0.48379	0.803000	0.45373	5.887000	0.69751	1.859000	0.53934	0.402000	0.26972	CTC	.		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		C	77921399	T	C	77921399	3	2	14	1	0	0	0	0	1	0	0	0	17115	1551	54	4	2532	4	USP35	11	77921399	Missense_Mutation	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09	584632	77921399	57085117	72	1939											
KDELC2	143888	hgsc.bcm.edu	37	11	108361840	108361840	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:108361840C>T	ENST00000323468.5	-	2	322	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	KDELC2_ENST00000434945.2_Missense_Mutation_p.R30Q|KDELC2_ENST00000375648.1_Missense_Mutation_p.R30Q	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	86						endoplasmic reticulum (GO:0005783)		p.R86Q(1)		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)		GACATGTATCCGGACCAACTC	0.378																																					p.R86Q		.											KDELC2,rectum,carcinoma,0,1	KDELC2	0	1	Substitution - Missense(1)	large_intestine(1)	c.G257A						.						85	79	81					11																	108361840		1872	4094	5966	SO:0001583	missense	143888	exon2			TGTATCCGGACCA	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.257G>A	11.37:g.108361840C>T	ENSP00000315386:p.Arg86Gln	66	0		29	2	NM_153705	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717876	0.68844	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	D;T;T	0.84442	-1.85;1.6;1.87	5.34	4.36	0.52297	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051096	0.85682	D	0.000000	D	0.86020	0.5833	M	0.76328	2.33	0.53005	D	0.999968	P;P	0.52842	0.729;0.956	B;P	0.47118	0.337;0.538	D	0.86355	0.1713	10	0.49607	T	0.09	-15.0416	12.0366	0.53429	0.0:0.8671:0.0:0.1329	.	86;30	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	Q	86;30;30	ENSP00000315386:R86Q;ENSP00000413429:R30Q;ENSP00000364799:R30Q	ENSP00000315386:R86Q	R	-	2	0	KDELC2	107867050	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.490000	0.60319	2.785000	0.95823	0.655000	0.94253	CGG	.		0.378	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		T	108361840	C	T	108361840	3	4	14	1	0	0	0	0	1	0	0	0	8145	652	23	1	1294	1	KDELC2	11	108361840	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	30440441	108361840	26644676	73	1940											
HYOU1	10525	hgsc.bcm.edu	37	11	118926263	118926263	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:118926263G>C	ENST00000404233.3	-	4	330	c.206C>G	c.(205-207)cCg>cGg	p.P69R	HYOU1_ENST00000529972.1_Missense_Mutation_p.P69R|HYOU1_ENST00000543287.1_5'UTR|HYOU1_ENST00000525859.1_Missense_Mutation_p.P69R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	69					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)	p.P69L(1)		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)		CACGATCACCGGTGTTTTCCT	0.517																																					p.P69R		.											HYOU1,scalp,carcinoma,0,1	HYOU1	0	1	Substitution - Missense(1)	skin(1)	c.C206G						.						98	98	98					11																	118926263		2200	4295	6495	SO:0001583	missense	10525	exon4			ATCACCGGTGTTT	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.206C>G	11.37:g.118926263G>C	ENSP00000384144:p.Pro69Arg	16	0		12	2	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403075	0.83230	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000530473	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.999	T	0.55679	-0.8103	10	0.66056	D	0.02	-10.8711	18.8467	0.92210	0.0:0.0:1.0:0.0	.	113;69;69	B7Z2N4;Q9Y4L1;A8C1Z0	.;HYOU1_HUMAN;.	R	69;60;69;69;69;69;112;69	ENSP00000384144:P69R;ENSP00000437313:P69R;ENSP00000433397:P69R;ENSP00000431874:P69R	ENSP00000278752:P60R	P	-	2	0	HYOU1	118431473	1.000000	0.71417	0.982000	0.44146	0.628000	0.37860	9.259000	0.95561	2.664000	0.90586	0.655000	0.94253	CCG	.		0.517	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		C	118926263	G	C	118926263	3	2	14	1	0	0	0	0	1	0	0	0	7497	1116	39	5	2885	5	HYOU1	11	118926263	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	10564423	118926263	16080253	74	1941											
BICD1	636	hgsc.bcm.edu	37	12	32481467	32481467	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:32481467C>T	ENST00000281474.5	+	5	2181	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	BICD1_ENST00000548411.1_Missense_Mutation_p.A693V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	693	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACATTGAGGGCGGTGTTGAAA	0.443																																					p.A693V		.											BICD1,colon,carcinoma,0,1	BICD1	0	0			c.C2078T						.						58	58	58					12																	32481467		2203	4300	6503	SO:0001583	missense	636	exon5			TGAGGGCGGTGTT	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2078C>T	12.37:g.32481467C>T	ENSP00000281474:p.Ala693Val	36	0		21	2	NM_001714	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559152	0.27827	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44083	0.93;0.93	5.05	5.05	0.67936	.	0.146454	0.48286	D	0.000193	T	0.36771	0.0979	L	0.53249	1.67	0.80722	D	1	P;P	0.45240	0.621;0.854	B;B	0.31946	0.05;0.138	T	0.39583	-0.9607	10	0.41790	T	0.15	.	18.4173	0.90575	0.0:1.0:0.0:0.0	.	693;693	F8W113;Q96G01	.;BICD1_HUMAN	V	693	ENSP00000446793:A693V;ENSP00000281474:A693V	ENSP00000281474:A693V	A	+	2	0	BICD1	32372734	1.000000	0.71417	0.895000	0.35142	0.234000	0.25298	5.479000	0.66813	2.333000	0.79357	0.655000	0.94253	GCG	.		0.443	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		T	32481467	C	T	32481467	3	4	14	1	0	0	0	0	1	0	0	0	1430	768	27	1	2096	1	BICD1	12	32481467	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		32481467	101370428	75	1942											
MED13L	23389	hgsc.bcm.edu	37	12	116399131	116399131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:116399131G>T	ENST00000281928.3	-	31	6779	c.6573C>A	c.(6571-6573)tgC>tgA	p.C2191*	RP11-493P1.2_ENST00000549725.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2191						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)		GGACGGGAAGGCAGGAAGTAC	0.507																																					p.C2191X		.											.	.	.	0			c.C6573A						.						133	119	124					12																	116399131		2203	4300	6503	SO:0001587	stop_gained	23389	exon31			GGGAAGGCAGGAA	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.6573C>A	12.37:g.116399131G>T	ENSP00000281928:p.Cys2191*	69	0		50	4	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Nonsense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	49	15.745885	0.99844	.	.	ENSG00000123066	ENST00000281928	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	2191	.	ENSP00000281928:C2191X	C	-	3	2	MED13L	114883514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	2.816000	0.96949	0.563000	0.77884	TGC	.		0.507	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			T	116399131	G	T	116399131	4	4	14	1	0	0	0	0	0	1	0	0	9469	1195	42	3	63	3	MED13L	12	116399131	Nonsense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	83917664	116399131	17452764	76	1943											
PLA2G1B	5319	hgsc.bcm.edu	37	12	120765537	120765537	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:120765537G>T	ENST00000308366.4	-	1	55	c.20C>A	c.(19-21)gCt>gAt	p.A7D	PLA2G1B_ENST00000423423.3_Missense_Mutation_p.A7D|PLA2G1B_ENST00000549767.1_5'Flank	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	7					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)	p.A7V(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	GAGCAGCACAGCTAGCACAAG	0.532																																					p.A7D	NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	.											PLA2G1B,caecum,carcinoma,0,1	PLA2G1B	0	1	Substitution - Missense(1)	large_intestine(1)	c.C20A						.						131	119	123					12																	120765537		2203	4300	6503	SO:0001583	missense	5319	exon1			AGCACAGCTAGCA		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.20C>A	12.37:g.120765537G>T	ENSP00000312286:p.Ala7Asp	54	0		34	2	NM_000928	B2R4H5|Q3KPI1	Missense_Mutation	SNP	ENST00000308366.4	37	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953235	0.53293	.	.	ENSG00000170890	ENST00000308366;ENST00000423423	T;T	0.65916	1.87;-0.18	4.7	4.7	0.59300	.	0.922936	0.09240	N	0.829362	T	0.70979	0.3286	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.67146	-0.5744	10	0.87932	D	0	-5.474	13.3158	0.60407	0.0:0.0:1.0:0.0	.	7;7	Q9BS22;P04054	.;PA21B_HUMAN	D	7	ENSP00000312286:A7D;ENSP00000413594:A7D	ENSP00000312286:A7D	A	-	2	0	PLA2G1B	119249920	0.991000	0.36638	1.000000	0.80357	0.320000	0.28249	1.562000	0.36353	2.615000	0.88500	0.591000	0.81541	GCT	.		0.532	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			T	120765537	G	T	120765537	3	4	14	1	0	0	0	0	1	0	0	0	12033	971	34	3	442	3	PLA2G1B	12	120765537	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	4366406	120765537	13086358	77	1944											
EP400	57634	hgsc.bcm.edu	37	12	132514441	132514441	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:132514441C>T	ENST00000333577.4	+	29	5794	c.5685C>T	c.(5683-5685)ttC>ttT	p.F1895F	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Silent_p.F1822F|EP400_ENST00000389561.2_Silent_p.F1859F|EP400_ENST00000330386.6_Silent_p.F1778F|EP400_ENST00000389562.2_Silent_p.F1858F			Q96L91	EP400_HUMAN	E1A binding protein p400	1895					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)		TGGTGCAGTTCGACTCAGGTA	0.652																																					p.F1859F		.											.	.	.	0			c.C5577T						.						38	36	37					12																	132514441		2203	4300	6503	SO:0001819	synonymous_variant	57634	exon28			GCAGTTCGACTCA	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.5685C>T	12.37:g.132514441C>T		86	0		51	4	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				.		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132514441	C	T	132514441	2	4	14	1	0	0	0	0	0	0	0	1	5165	883	31	1		1	EP400	12	132514441	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	11748904	132514441	1337454	78	1945											
RBM25	58517	hgsc.bcm.edu	37	14	73538375	73538375	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr14:73538375G>T	ENST00000261973.7	+	2	311	c.26G>T	c.(25-27)cGc>cTc	p.R9L	RBM25_ENST00000540173.1_Missense_Mutation_p.R9L|RBM25_ENST00000525321.1_Missense_Mutation_p.R9L|RBM25_ENST00000526754.1_Missense_Mutation_p.R9L|RBM25_ENST00000527432.1_Missense_Mutation_p.R9L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	9					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CATTTGAATCGCCCTCCCATG	0.443																																					p.R9L		.											RBM25,NS,carcinoma,0,2	RBM25	0	0			c.G26T						.						97	96	97					14																	73538375		2203	4300	6503	SO:0001583	missense	58517	exon2			TGAATCGCCCTCC	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.26G>T	14.37:g.73538375G>T	ENSP00000261973:p.Arg9Leu	91	0		40	2	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181683	0.78677	.	.	ENSG00000119707	ENST00000261973;ENST00000540173;ENST00000527432;ENST00000531500;ENST00000525321;ENST00000526754;ENST00000525161	T;T;T;T;T;T	0.33654	1.59;1.59;1.59;1.4;1.4;1.59	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.43152	1.355	0.54753	D	0.999985	B;P	0.52170	0.015;0.951	B;P	0.47744	0.02;0.556	T	0.13361	-1.0512	10	0.39692	T	0.17	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	9;9	P49756;P49756-2	RBM25_HUMAN;.	L	9	ENSP00000261973:R9L;ENSP00000437934:R9L;ENSP00000431150:R9L;ENSP00000434333:R9L;ENSP00000436868:R9L;ENSP00000436225:R9L	ENSP00000261973:R9L	R	+	2	0	RBM25	72608128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.084000	0.94076	2.594000	0.87642	0.585000	0.79938	CGC	.		0.443	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		T	73538375	G	T	73538375	3	4	14	1	0	0	0	0	1	0	0	0	13170	1087	38	2	28	2	RBM25	14	73538375	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		73538375	33811165	79	1946											
USP8	9101	ucsc.edu	37	15	50785054	50785054	+	Silent	SNP	C	C	T	rs199814360		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:50785054C>T	ENST00000396444.3	+	15	2729	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	USP8_ENST00000433963.1_Silent_p.N797N|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.N797N|USP8_ENST00000425032.3_Silent_p.N691N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	797	USP.				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)		GCCTATGTAACGCTCCACATT	0.363																																					p.N797N													.	USP8	90	0			c.C2391T						.						105	96	99					15																	50785054		2196	4293	6489	SO:0001819	synonymous_variant	9101	exon15			ATGTAACGCTCCA	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.2391C>T	15.37:g.50785054C>T		56	4		36	4	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																			.		0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		T	50785054	C	T	50785054	2	4	14	1	0	0	0	0	0	0	0	1	17138	535	19	1		1	USP8	15	50785054	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		50785054	51746338	80	1947											
ISL2	64843	hgsc.bcm.edu	37	15	76632660	76632661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:76632660_76632661insA	ENST00000290759.4	+	4	715_716	c.555_556insA	c.(556-558)aagfs	p.K186fs	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	186					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CGCACGTGCACAAGCAGACGGA	0.713																																					p.H185fs	GBM(97;953 1391 16164 31496 36951)	.											.	.	.	0			c.555_556insA						.																																			SO:0001589	frameshift_variant	64843	exon4			CGTGCACAAGCAG	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.557dupA	15.37:g.76632662_76632662dupA	ENSP00000290759:p.Lys186fs	76	0		39	15	NM_145805	B3KM37	Frame_Shift_Ins	INS	ENST00000290759.4	37	CCDS10290.1																																																																																			.		0.713	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			A	76632661	-	A	76632660	7	5	14	1	0	1	1	0	0	0	0	0	7884	477	17	0	569	0	ISL2	15	76632660	Frame_Shift_Ins	INS	-	TCGA-W5-AA2T-01A-12D-A417-09	25847606	76632660	25898732	81	1948											
KLHL25	64410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	86311759	86311759	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:86311759G>A	ENST00000337975.5	-	2	1557	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Missense_Mutation_p.A428V|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	428					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCGCAAGGGGGCCACCATCAT	0.592																																					p.A428V		.											.	.	.	0			c.C1283T						.						56	55	56					15																	86311759		2202	4299	6501	SO:0001583	missense	64410	exon2			AAGGGGGCCACCA		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1283C>T	15.37:g.86311759G>A	ENSP00000336800:p.Ala428Val	39	0		22	10	NM_022480	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844719	0.51164	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.80304	-1.36;-1.36	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.057013	0.64402	D	0.000002	D	0.83133	0.5188	L	0.58354	1.805	0.58432	D	0.999999	B	0.20052	0.041	B	0.36959	0.237	T	0.81378	-0.0960	10	0.87932	D	0	.	18.1417	0.89642	0.0:0.0:1.0:0.0	.	428	Q9H0H3	ENC2_HUMAN	V	428;397;428	ENSP00000336800:A428V;ENSP00000444739:A428V	ENSP00000336800:A428V	A	-	2	0	KLHL25	84112763	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	GCC	.		0.592	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		A	86311759	G	A	86311759	3	1	14	1	0	0	0	0	1	0	0	0	8407	1203	42	3	490	3	KLHL25	15	86311759	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	9679099	86311759	16219633	82	1949											
HAPLN3	145864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	89424838	89424838	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:89424838C>T	ENST00000359595.3	-	3	457	c.243G>A	c.(241-243)ccG>ccA	p.P81P	HAPLN3_ENST00000562889.1_Silent_p.P143P	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	81	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.P81P(1)		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)	GCACACGCCGCGGGGAGACCA	0.662																																					p.P81P		.											HAPLN3,colon,carcinoma,0,1	HAPLN3	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A						.						66	67	67					15																	89424838		2200	4298	6498	SO:0001819	synonymous_variant	145864	exon3			ACGCCGCGGGGAG	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.243G>A	15.37:g.89424838C>T		43	0		17	9	NM_178232	A8K7P0	Silent	SNP	ENST00000359595.3	37	CCDS10346.1																																																																																			.		0.662	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		T	89424838	C	T	89424838	2	4	14	1	0	0	0	0	0	0	0	1	6983	755	27	1		1	HAPLN3	15	89424838	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	3113079	89424838	13106554	83	1950											
COQ9	57017	hgsc.bcm.edu	37	16	57486813	57486813	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr16:57486813G>T	ENST00000262507.6	+	3	412	c.343G>T	c.(343-345)Ggg>Tgg	p.G115W	COQ9_ENST00000567072.1_Missense_Mutation_p.G115W|COQ9_ENST00000567933.1_Missense_Mutation_p.G115W	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	115					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.G115W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						GCCCGCCCACGGGTGGACAGC	0.602																																					p.G115W		.											COQ9,NS,carcinoma,0,1	COQ9	0	1	Substitution - Missense(1)	lung(1)	c.G343T						.						97	86	90					16																	57486813		2198	4300	6498	SO:0001583	missense	57017	exon3			GCCCACGGGTGGA	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.343G>T	16.37:g.57486813G>T	ENSP00000262507:p.Gly115Trp	29	0		33	2	NM_020312	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560568	0.86335	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.92317	3.295	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89808	0.3980	9	0.87932	D	0	-17.7377	17.3209	0.87235	0.0:0.0:1.0:0.0	.	115;115;115;115;115	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	W	115	.	ENSP00000262507:G115W	G	+	1	0	COQ9	56044314	1.000000	0.71417	0.947000	0.38551	0.801000	0.45260	7.974000	0.88039	2.325000	0.78763	0.650000	0.86243	GGG	.		0.602	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		T	57486813	G	T	57486813	3	4	14	1	0	0	0	0	1	0	0	0	3758	1116	39	2	353	2	COQ9	16	57486813	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		57486813	32867940	84	1951											
VMO1	284013	hgsc.bcm.edu	37	17	4688807	4688807	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:4688807C>A	ENST00000328739.5	-	3	538	c.459G>T	c.(457-459)caG>caT	p.Q153H	VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000416307.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	153						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCCCAGGCCCCTGCAGTTCCT	0.637																																					p.Q153H		.											VMO1,NS,carcinoma,0,1	VMO1	0	0			c.G459T						.						83	77	79					17																	4688807		2203	4300	6503	SO:0001583	missense	284013	exon3			AGGCCCCTGCAGT	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.459G>T	17.37:g.4688807C>A	ENSP00000328397:p.Gln153His	55	0		52	3	NM_182566	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354243	0.61293	.	.	ENSG00000182853	ENST00000328739	T	0.45668	0.89	5.0	2.81	0.32909	.	0.226655	0.43747	D	0.000539	T	0.31670	0.0804	L	0.31926	0.97	0.80722	D	1	P	0.46142	0.873	P	0.45474	0.482	T	0.06075	-1.0847	10	0.49607	T	0.09	-19.9223	5.138	0.14945	0.0:0.642:0.1712:0.1867	.	153	Q7Z5L0	VMO1_HUMAN	H	153	ENSP00000328397:Q153H	ENSP00000328397:Q153H	Q	-	3	2	VMO1	4635547	0.997000	0.39634	1.000000	0.80357	0.871000	0.50021	0.574000	0.23714	1.216000	0.43427	0.561000	0.74099	CAG	.		0.637	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		A	4688807	C	A	4688807	3	1	14	1	0	0	0	0	1	0	0	0	17226	680	24	3	153	3	VMO1	17	4688807	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		4688807	76506403	85	1952											
DNAH9	1770	hgsc.bcm.edu;bcgsc.ca	37	17	11774974	11774974	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:11774974G>T	ENST00000262442.4	+	52	10181	c.10113G>T	c.(10111-10113)caG>caT	p.Q3371H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3371H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3371					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)		ACTTCAAACAGCAGGAAAGGA	0.478																																					p.Q3371H		.											.	.	.	0			c.G10113T						.						153	145	148					17																	11774974		2203	4300	6503	SO:0001583	missense	1770	exon52			CAAACAGCAGGAA	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.10113G>T	17.37:g.11774974G>T	ENSP00000262442:p.Gln3371His	86	0		70	4	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009636	0.35415	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75050	-0.9;-0.9	4.82	-1.09	0.09904	Dynein heavy chain, coiled coil stalk (1);	0.131519	0.52532	D	0.000074	T	0.60418	0.2267	L	0.39020	1.185	0.80722	D	1	B	0.11235	0.004	B	0.18263	0.021	T	0.46693	-0.9173	10	0.38643	T	0.18	.	10.5477	0.45070	0.2749:0.0:0.7251:0.0	.	3371	Q9NYC9	DYH9_HUMAN	H	3371;3371;1953	ENSP00000262442:Q3371H;ENSP00000414874:Q3371H	ENSP00000262442:Q3371H	Q	+	3	2	DNAH9	11715699	0.006000	0.16342	0.965000	0.40720	0.898000	0.52572	-0.184000	0.09698	-0.229000	0.09854	0.643000	0.83706	CAG	.		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11774974	G	T	11774974	3	4	14	1	0	0	0	0	1	0	0	0	4622	962	34	3	10319	3	DNAH9	17	11774974	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	7086167	11774974	69420236	86	1953											
SLFN12	55106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	33749505	33749505	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:33749505G>A	ENST00000394562.1	-	4	1066	c.543C>T	c.(541-543)gcC>gcT	p.A181A	SLFN12_ENST00000452764.3_Silent_p.A181A|SLFN12_ENST00000304905.5_Silent_p.A181A|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	181							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)		AAAAAACCCCGGCCAAGGCCT	0.368																																					p.A181A		.											.	.	.	0			c.C543T						.						56	60	58					17																	33749505		2182	4289	6471	SO:0001819	synonymous_variant	55106	exon2			AACCCCGGCCAAG	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.543C>T	17.37:g.33749505G>A		72	0		80	21	NM_018042	A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	CCDS11295.1																																																																																			.		0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		A	33749505	G	A	33749505	2	1	14	1	0	0	0	0	0	0	0	1	14779	1103	39	1		1	SLFN12	17	33749505	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	21974531	33749505	47445705	87	1954											
HCN2	610	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	613928	613928	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:613928C>T	ENST00000251287.2	+	7	1955	c.1902C>T	c.(1900-1902)agC>agT	p.S634S	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	634					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)		ATTCGCTGAGCGTGGACAACT	0.701																																					p.S634S	Melanoma(145;1175 2427 8056 36306)	.											.	.	.	0			c.C1902T						.						41	39	40					19																	613928		2200	4296	6496	SO:0001819	synonymous_variant	610	exon7			GCTGAGCGTGGAC	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.1902C>T	19.37:g.613928C>T		38	0		35	22	NM_001194	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																			.		0.701	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		T	613928	C	T	613928	2	4	14	1	0	0	0	0	0	0	0	1	7024	767	27	1		1	HCN2	19	613928	Silent	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09		613928	58515055	88	1955											
RYR1	6261	broad.mit.edu	37	19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:38995497A>G	ENST00000359596.3	+	51	8177	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_ENST00000360985.3_Missense_Mutation_p.K2726R|RYR1_ENST00000355481.4_Missense_Mutation_p.K2726R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2726	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)	GCAGAGAAAAAGGCCACAGTG	0.597																																					p.K2726R													.	RYR1	708	0			c.A8177G						.						61	57	58					19																	38995497		2203	4300	6503	SO:0001583	missense	6261	exon51			AGAAAAAGGCCAC	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.8177A>G	19.37:g.38995497A>G	ENSP00000352608:p.Lys2726Arg	70	0		44	3	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651448	0.47362	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96913	-4.17;-4.17;-4.17	3.66	2.62	0.31277	.	0.000000	0.64402	U	0.000002	D	0.91543	0.7329	L	0.32530	0.975	0.33450	D	0.583509	B;B	0.33807	0.426;0.3	B;B	0.32090	0.14;0.066	D	0.90938	0.4795	10	0.45353	T	0.12	.	8.8866	0.35406	0.8318:0.0:0.0:0.1682	.	2726;2726	P21817-2;P21817	.;RYR1_HUMAN	R	2726	ENSP00000352608:K2726R;ENSP00000347667:K2726R;ENSP00000354254:K2726R	ENSP00000347667:K2726R	K	+	2	0	RYR1	43687337	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	7.195000	0.77798	0.732000	0.32470	0.402000	0.26972	AAG	.		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38995497	A	G	38995497	3	3	14	1	0	0	0	0	1	0	0	0	13813	72	3	4	8379	4	RYR1	19	38995497	Missense_Mutation	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	38381569	38995497	20133486	89	1956											
ADCK4	79934	hgsc.bcm.edu	37	19	41197996	41197996	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:41197996C>T	ENST00000324464.3	-	15	1880	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	NUMBL_ENST00000598779.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.A486T|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.A486T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	527						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)			GCAGTGGCTGCGTCTGGCTGG	0.667																																					p.A527T		.											.	.	.	0			c.G1579A						.						21	22	22					19																	41197996		2202	4291	6493	SO:0001583	missense	79934	exon15			TGGCTGCGTCTGG	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.1579G>A	19.37:g.41197996C>T	ENSP00000315118:p.Ala527Thr	44	0		46	4	NM_024876	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801303	0.50315	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.74632	-0.86;-0.47;-0.47	4.84	-9.69	0.00524	.	0.949466	0.08817	N	0.889331	T	0.40040	0.1101	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	0.28586	-1.0039	10	0.11182	T	0.66	0.7801	3.6198	0.08092	0.1057:0.2308:0.4663:0.1971	.	527;486	Q96D53;Q96D53-2	ADCK4_HUMAN;.	T	527;486;486	ENSP00000315118:A527T;ENSP00000412839:A486T;ENSP00000243583:A486T	ENSP00000243583:A486T	A	-	1	0	ADCK4	45889836	0.000000	0.05858	0.000000	0.03702	0.576000	0.36127	-3.329000	0.00510	-2.070000	0.00881	-0.459000	0.05422	GCA	.		0.667	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		T	41197996	C	T	41197996	3	4	14	1	0	0	0	0	1	0	0	0	290	768	27	1	59	1	ADCK4	19	41197996	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	2202499	41197996	17930987	90	1957											
ZNF223	7766	hgsc.bcm.edu	37	19	44564661	44564661	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:44564661G>T	ENST00000434772.3	+	3	324	c.69G>T	c.(67-69)ggG>ggT	p.G23G	ZNF223_ENST00000591793.1_Silent_p.G133G|ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Silent_p.G23G	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	23	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(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGGAGCTGGGGCTGCTGGACC	0.517																																					p.G23G		.											.	.	.	0			c.G69T						.						243	216	225					19																	44564661		2203	4300	6503	SO:0001819	synonymous_variant	7766	exon3			GCTGGGGCTGCTG	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.69G>T	19.37:g.44564661G>T		92	0		94	4	NM_013361	Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	CCDS12635.1																																																																																			.		0.517	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			T	44564661	G	T	44564661	2	4	14	1	0	0	0	0	0	0	0	1	17825	1190	42	3		3	ZNF223	19	44564661	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	3366665	44564661	14564322	91	1958											
VRK3	51231	hgsc.bcm.edu	37	19	50519394	50519394	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:50519394C>T	ENST00000599538.1	-	3	690	c.26G>A	c.(25-27)gGc>gAc	p.G9D	VRK3_ENST00000601341.1_Missense_Mutation_p.G9D|VRK3_ENST00000594092.1_Missense_Mutation_p.G9D|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.G9D|VRK3_ENST00000601912.1_Missense_Mutation_p.G9D|VRK3_ENST00000377011.2_Missense_Mutation_p.G9D|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.G9D|VRK3_ENST00000316763.3_Missense_Mutation_p.G9D			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	9					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GATACTTTTGCCACAGTCTGG	0.463																																					p.G9D	Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	.											VRK3,NS,carcinoma,0,1	VRK3	0	0			c.G26A						.						93	89	90					19																	50519394		2203	4300	6503	SO:0001583	missense	51231	exon3			CTTTTGCCACAGT	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.26G>A	19.37:g.50519394C>T	ENSP00000469880:p.Gly9Asp	62	0		45	2	NM_016440	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988602	0.74589	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.54479	0.91;0.57	4.52	4.52	0.55395	.	0.104827	0.64402	D	0.000005	T	0.79879	0.4522	H	0.96015	3.755	0.43724	D	0.996209	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.997;0.991;0.998;0.998	D	0.84785	0.0775	10	0.66056	D	0.02	-27.0638	13.0397	0.58891	0.0:1.0:0.0:0.0	.	9;9;9;9;9	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	D	9	ENSP00000324636:G9D;ENSP00000366210:G9D	ENSP00000324636:G9D	G	-	2	0	VRK3	55211206	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.812000	0.47994	2.792000	0.96026	0.650000	0.86243	GGC	.		0.463	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		T	50519394	C	T	50519394	3	4	14	1	0	0	0	0	1	0	0	0	17270	739	26	3	1446	3	VRK3	19	50519394	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	5954733	50519394	8609589	92	1959											
C19orf41	126123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	50657879	50657879	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:50657879C>T	ENST00000293405.3	-	6	601	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	201						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ACCACGAAGACAAAGACAGCC	0.607																																					p.V201I		.											.	.	.	0			c.G601A						.						132	153	146					19																	50657879		2129	4237	6366	SO:0001583	missense	126123	exon6			CGAAGACAAAGAC	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.601G>A	19.37:g.50657879C>T	ENSP00000293405:p.Val201Ile	122	0		88	39	NM_152358	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.561261	0.00910	.	.	ENSG00000161652	ENST00000293405	T	0.45668	0.89	3.32	-6.63	0.01807	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.05305	-1.0893	9	0.22109	T	0.4	.	2.1227	0.03730	0.2621:0.2116:0.3681:0.1581	.	201	Q6UXV1	IZUM2_HUMAN	I	201	ENSP00000293405:V201I	ENSP00000293405:V201I	V	-	1	0	IZUMO2	55349691	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.740000	0.01839	-4.934000	0.00026	-2.269000	0.00276	GTC	.		0.607	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		T	50657879	C	T	50657879	3	4	14	1	0	0	0	0	1	0	0	0	1931	478	17	3	72	3	C19orf41	19	50657879	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	138485	50657879	8471104	93	1960											
HAS1	3036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52222503	52222503	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:52222503A>G	ENST00000222115.1	-	2	692	c.658T>C	c.(658-660)Tac>Cac	p.Y220H	HAS1_ENST00000594621.1_Missense_Mutation_p.Y74H|HAS1_ENST00000540069.2_Missense_Mutation_p.Y219H|HAS1_ENST00000601714.1_Missense_Mutation_p.Y227H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	220					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)		AAGGCTGTGTACATGACCTCG	0.657																																					p.Y220H	NSCLC(132;636 2450 45807 47979)	.											.	.	.	0			c.T658C						.						45	40	42					19																	52222503		2203	4298	6501	SO:0001583	missense	3036	exon2			CTGTGTACATGAC	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.658T>C	19.37:g.52222503A>G	ENSP00000222115:p.Tyr220His	21	0		24	13	NM_001523	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.324986	0.81580	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59083	0.29;0.29	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.73853	0.3640	M	0.79011	2.435	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77127	-0.2702	10	0.87932	D	0	-20.8607	10.9911	0.47549	1.0:0.0:0.0:0.0	.	219;220;219	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	219;220;74;74	ENSP00000445021:Y219H;ENSP00000222115:Y220H	ENSP00000222115:Y220H	Y	-	1	0	HAS1	56914315	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	1.531000	0.49152	0.346000	0.21813	TAC	.		0.657	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		G	52222503	A	G	52222503	3	3	14	1	0	0	0	0	1	0	0	0	6988	391	14	4	1094	4	HAS1	19	52222503	Missense_Mutation	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09	1564624	52222503	6906480	94	1961											
LAIR2	3904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	55019357	55019357	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:55019357G>A	ENST00000301202.2	+	3	444	c.322G>A	c.(322-324)Gga>Aga	p.G108R	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108R	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	108	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)		TAAGCCCCCTGGATGGTCTGA	0.547																																					p.G108R		.											.	.	.	0			c.G322A						.						101	100	100					19																	55019357		2203	4300	6503	SO:0001583	missense	3904	exon3			CCCCCTGGATGGT	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.322G>A	19.37:g.55019357G>A	ENSP00000301202:p.Gly108Arg	70	0		49	27	NM_002288	Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	0.145	-1.097754	0.01843	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.15372	2.43;2.58	3.55	-7.1	0.01547	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.257690	0.00166	N	0.000009	T	0.08492	0.0211	N	0.05259	-0.085	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.002;0.007	T	0.25433	-1.0132	9	.	.	.	.	11.7479	0.51830	0.128:0.2247:0.6473:0.0	.	108;108	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	R	108	ENSP00000301202:G108R;ENSP00000301203:G108R	.	G	+	1	0	LAIR2	59711169	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.084000	0.00612	-2.958000	0.00291	-2.222000	0.00295	GGA	.		0.547	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			A	55019357	G	A	55019357	3	1	14	1	0	0	0	0	1	0	0	0	8631	1349	47	3	332	3	LAIR2	19	55019357	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	2796854	55019357	4109626	95	1962											
PCSK2	5126	broad.mit.edu	37	20	17462329	17462329	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:17462329A>G	ENST00000262545.2	+	12	1846	c.1531A>G	c.(1531-1533)Atc>Gtc	p.I511V	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.I476V|PCSK2_ENST00000377899.1_Missense_Mutation_p.I492V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	511					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)"	CCAGGCTGTCATCACGGTCAA	0.532																																					p.I511V													PCSK2,NS,carcinoma,0,1	PCSK2	112	0			c.A1531G						.						126	98	108					20																	17462329		2203	4300	6503	SO:0001583	missense	5126	exon12			GCTGTCATCACGG	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.1531A>G	20.37:g.17462329A>G	ENSP00000262545:p.Ile511Val	99	0		50	3	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.552982	0.27739	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.73469	-0.75;-0.75;-0.75	5.93	4.78	0.61160	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.088947	0.85682	N	0.000000	T	0.49133	0.1539	N	0.02865	-0.47	0.58432	D	0.999994	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.19666	0.006;0.026;0.014	T	0.35919	-0.9769	10	0.18710	T	0.47	-30.8748	10.6246	0.45500	0.9201:0.0:0.0799:0.0	.	476;492;511	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	V	492;511;476	ENSP00000367131:I492V;ENSP00000262545:I511V;ENSP00000437458:I476V	ENSP00000262545:I511V	I	+	1	0	PCSK2	17410329	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.487000	0.60293	0.986000	0.38683	0.477000	0.44152	ATC	.		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		G	17462329	A	G	17462329	3	3	14	1	0	0	0	0	1	0	0	0	11640	217	8	4	1577	4	PCSK2	20	17462329	Missense_Mutation	SNP	A	TCGA-W5-AA2T-01A-12D-A417-09		17462329	45563191	96	1963											
NCOA3	8202	hgsc.bcm.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	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						agcagcagcagcaacagcagc	0.547																																					p.Q1253Q		.											NCOA3,NS,carcinoma,0,3	NCOA3	0	0			c.G3759A						.						46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202	exon20			GCAGCAGCAACAG	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.3759G>A	20.37:g.46279833G>A		47	0		34	2	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			.		0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279833	G	A	46279833	2	1	14	1	0	0	0	0	0	0	0	1	10269	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	28817504	46279833	16745687	97	1964											
NFATC2	4773	hgsc.bcm.edu	37	20	50092014	50092014	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:50092014T>G	ENST00000396009.3	-	4	1735	c.1516A>C	c.(1516-1518)Aaa>Caa	p.K506Q	NFATC2_ENST00000371564.3_Missense_Mutation_p.K506Q|NFATC2_ENST00000610033.1_Missense_Mutation_p.K287Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.K486Q|NFATC2_ENST00000609943.1_Missense_Mutation_p.K486Q|NFATC2_ENST00000609507.1_Missense_Mutation_p.K287Q	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	506	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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.K506Q(1)	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)					ATGTTGTTTTTGGGCTCCAAG	0.577																																					p.K506Q		.											NFATC2,right_upper_lobe,carcinoma,0,2	NFATC2	0	1	Substitution - Missense(1)	prostate(1)	c.A1516C						.						181	186	184					20																	50092014		2203	4300	6503	SO:0001583	missense	4773	exon4			TGTTTTTGGGCTC	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.1516A>C	20.37:g.50092014T>G	ENSP00000379330:p.Lys506Gln	73	1		66	4	NM_012340	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597747	0.66332	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.45276	0.9;0.9;0.9	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.43152	1.355	0.45528	D	0.998486	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.998;0.988;0.998;0.998	T	0.60500	-0.7251	10	0.72032	D	0.01	-14.8818	15.1948	0.73078	0.0:0.0:0.0:1.0	.	486;486;506;506	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	Q	506;506;486	ENSP00000360619:K506Q;ENSP00000379330:K506Q;ENSP00000396471:K486Q	ENSP00000360619:K506Q	K	-	1	0	NFATC2	49525421	1.000000	0.71417	0.982000	0.44146	0.941000	0.58515	3.350000	0.52224	1.982000	0.57802	0.477000	0.44152	AAA	.		0.577	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		G	50092014	T	G	50092014	3	3	14	1	0	0	0	0	1	0	0	0	10401	1821	63	4	1337	4	NFATC2	20	50092014	Missense_Mutation	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09	3812181	50092014	12933506	98	1965											
MC3R	4159	hgsc.bcm.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517																																					p.R307C		.											MC3R,colon,carcinoma,-1,2	MC3R	-1	1	Substitution - Missense(1)	breast(1)	c.C919T						.						171	162	165					20																	54824818		2203	4300	6503	SO:0001583	missense	4159	exon1			GAATTGCGCAACA		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.919C>T	20.37:g.54824818C>T	ENSP00000243911:p.Arg307Cys	55	0		35	2	NM_019888	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC	.		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824818	C	T	54824818	3	4	14	1	0	0	0	0	1	0	0	0	9403	768	27	1	921	1	MC3R	20	54824818	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	4732804	54824818	8200702	99	1966											
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	57769548	57769548	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1158							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T1158T(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)					ACTCAGGGACGTCCCGGAGCC	0.672																																					p.T1158T		.											ZNF831,NS,carcinoma,0,1	ZNF831	0	1	Substitution - coding silent(1)	prostate(1)	c.G3474A						.						44	51	48					20																	57769548		2038	4178	6216	SO:0001819	synonymous_variant	128611	exon1			AGGGACGTCCCGG	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.3474G>A	20.37:g.57769548G>A		47	0		33	14	NM_178457	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			.		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57769548	G	A	57769548	2	1	14	1	0	0	0	0	0	0	0	1	18233	1132	40	1		1	ZNF831	20	57769548	Silent	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	2944730	57769548	5255972	100	1967											
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	61512147	61512147	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:61512147C>G	ENST00000266070.4	-	16	5486	c.5161G>C	c.(5161-5163)Ggg>Cgg	p.G1721R	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1721R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1721					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)					TCTCTGTCCCCCTCTGTTTCA	0.647																																					p.G1721R	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	.	.	0			c.G5161C						.						65	76	72					20																	61512147		2203	4300	6503	SO:0001583	missense	11083	exon16			TGTCCCCCTCTGT	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.5161G>C	20.37:g.61512147C>G	ENSP00000266070:p.Gly1721Arg	33	0		22	9	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	11.42	1.634246	0.29068	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12255	2.7;2.7	5.02	3.08	0.35506	.	0.176742	0.26991	N	0.021465	T	0.09555	0.0235	L	0.32530	0.975	0.09310	N	0.999998	B	0.18013	0.025	B	0.14023	0.01	T	0.26224	-1.0109	10	0.72032	D	0.01	-8.9557	4.7475	0.13045	0.1709:0.6463:0.0:0.1828	.	1721	Q9BTC0	DIDO1_HUMAN	R	1721	ENSP00000266070:G1721R;ENSP00000378752:G1721R	ENSP00000266070:G1721R	G	-	1	0	DIDO1	60982592	0.654000	0.27367	0.013000	0.15412	0.017000	0.09413	1.998000	0.40796	0.505000	0.28104	0.555000	0.69702	GGG	.		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		G	61512147	C	G	61512147	3	3	14	1	0	0	0	0	1	0	0	0	4536	623	22	5	1565	5	DIDO1	20	61512147	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	3742599	61512147	1513373	101	1968											
TPTE	7179	hgsc.bcm.edu;broad.mit.edu	37	21	10941922	10941922	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr21:10941922T>A	ENST00000361285.4	-	14	1110	c.781A>T	c.(781-783)Aga>Tga	p.R261*	TPTE_ENST00000298232.7_Nonsense_Mutation_p.R243*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R223*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	261	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)		ATTGGATTTCTATAGAAAGAC	0.323																																					p.R261X		.											.	.	.	0			c.A781T						.						217	208	211					21																	10941922		2203	4299	6502	SO:0001587	stop_gained	7179	exon14			GATTTCTATAGAA	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.781A>T	21.37:g.10941922T>A	ENSP00000355208:p.Arg261*	224	0		112	10	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	27.7	4.855188	0.91355	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	1.8	0.491	0.16867	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8563	5.9476	0.19227	0.0:0.0:0.2671:0.7328	.	.	.	.	X	243;261;223	.	ENSP00000298232:R243X	R	-	1	2	TPTE	9963793	1.000000	0.71417	0.749000	0.31150	0.079000	0.17450	4.302000	0.59092	0.125000	0.18397	0.163000	0.16589	AGA	.		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10941922	T	A	10941922	4	1	14	1	0	0	0	0	0	1	0	0	16478	1530	53	5	918	5	TPTE	21	10941922	Nonsense_Mutation	SNP	T	TCGA-W5-AA2T-01A-12D-A417-09		10941922	37187973	102	1969											
UBASH3A	53347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	43857670	43857670	+	Missense_Mutation	SNP	C	C	T	rs201756769		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr21:43857670C>T	ENST00000319294.6	+	11	1497	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	UBASH3A_ENST00000398367.1_Missense_Mutation_p.T451M|UBASH3A_ENST00000291535.6_Missense_Mutation_p.T451M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	489	Phosphatase-like.				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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGTGTGCAGACGGCCAAACTC	0.552																																					p.T489M		.											.	.	.	0			c.C1466T						.	C	MET/THR,MET/THR	0,4406		0,0,2203	110	99	103		1352,1466	4.2	0.9	21		103	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UBASH3A	NM_001001895.2,NM_018961.3	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	451/624,489/662	43857670	2,13004	2203	4300	6503	SO:0001583	missense	53347	exon11			TGCAGACGGCCAA	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.1466C>T	21.37:g.43857670C>T	ENSP00000317327:p.Thr489Met	45	0		35	17	NM_018961	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228919	0.58777	0.0	2.33E-4	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;D	0.88818	-0.79;-0.79;-2.43	4.25	4.25	0.50352	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.56097	D	0.000037	D	0.96122	0.8736	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.977;0.977;0.99	D	0.97282	0.9918	10	0.87932	D	0	-19.7568	13.5937	0.61975	0.0:1.0:0.0:0.0	.	451;451;489	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	451;489;451	ENSP00000291535:T451M;ENSP00000317327:T489M;ENSP00000381408:T451M	ENSP00000291535:T451M	T	+	2	0	UBASH3A	42730739	0.998000	0.40836	0.921000	0.36526	0.653000	0.38743	4.617000	0.61204	1.919000	0.55581	0.514000	0.50259	ACG	0.001		0.552	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		T	43857670	C	T	43857670	3	4	14	1	0	0	0	0	1	0	0	0	16888	536	19	1	1508	1	UBASH3A	21	43857670	Missense_Mutation	SNP	C	TCGA-W5-AA2T-01A-12D-A417-09	32915748	43857670	4272225	103	1970											
CDKL5	6792	bcgsc.ca	37	X	18622316	18622316	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chrX:18622316G>T	ENST00000379989.3	+	13	1557	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.K424N	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	424					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)					TTGACCCAAAGCCTTCAGAAG	0.453																																					p.K424N													.	CDKL5	124	0			c.G1272T						.						136	137	137					X																	18622316		2203	4300	6503	SO:0001583	missense	6792	exon12			CCCAAAGCCTTCA	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.1272G>T	X.37:g.18622316G>T	ENSP00000369325:p.Lys424Asn	66	0		13	3	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046466	0.55110	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71222	-0.55;-0.55	6.06	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	L	0.34521	1.04	0.32817	D	0.502182	D	0.76494	0.999	D	0.80764	0.994	T	0.79529	-0.1766	10	0.72032	D	0.01	-23.8541	10.09	0.42441	0.2355:0.0:0.7645:0.0	.	424	O76039	CDKL5_HUMAN	N	424	ENSP00000369332:K424N;ENSP00000369325:K424N	ENSP00000369325:K424N	K	+	3	2	CDKL5	18532237	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	3.731000	0.55013	0.688000	0.31529	0.600000	0.82982	AAG	.		0.453	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		T	18622316	G	T	18622316	3	4	14	1	0	0	0	0	1	0	0	0	3164	962	34	3	1314	3	CDKL5	23	18622316	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09		18622316	136648244	104	1971											
AR	367	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	66765910	66765910	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chrX:66765910G>A	ENST00000374690.3	+	1	1446	c.922G>A	c.(922-924)Gag>Aag	p.E308K	AR_ENST00000504326.1_Missense_Mutation_p.E308K|AR_ENST00000396044.3_Missense_Mutation_p.E308K|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	306	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)	AGATACTGCTGAGTATTCCCC	0.577									Androgen Insensitivity Syndrome																												p.E308K		.											.	.	.	0			c.G922A						.						56	45	49					X																	66765910		2203	4300	6503	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	ACTGCTGAGTATT	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.922G>A	X.37:g.66765910G>A	ENSP00000363822:p.Glu308Lys	64	0		15	11	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.977745	0.74360	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.88	4.88	0.63580	.	0.804918	0.11792	N	0.529121	D	0.96981	0.9014	M	0.91561	3.22	0.24935	N	0.99189	P;P;P	0.49447	0.786;0.65;0.924	P;B;P	0.51945	0.685;0.411;0.622	D	0.92693	0.6168	10	0.18276	T	0.48	.	12.1635	0.54117	0.0:0.0:1.0:0.0	.	308;308;306	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	K	118;308;308;308;300	ENSP00000363822:E308K;ENSP00000421155:E308K;ENSP00000379359:E308K	ENSP00000363822:E308K	E	+	1	0	AR	66682635	1.000000	0.71417	0.932000	0.37286	0.872000	0.50106	4.877000	0.63086	2.260000	0.74910	0.509000	0.49947	GAG	.		0.577	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		A	66765910	G	A	66765910	3	1	14	1	0	0	0	0	1	0	0	0	836	1291	45	3	924	3	AR	23	66765910	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	48143594	66765910	88504650	105	1972											
DOCK11	139818	hgsc.bcm.edu	37	X	117777438	117777438	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chrX:117777438G>T	ENST00000276202.7	+	40	4342	c.4279G>T	c.(4279-4281)Gat>Tat	p.D1427Y	DOCK11_ENST00000276204.6_Missense_Mutation_p.D1427Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1427					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						TTTAAATAATGATGGCCATAA	0.328																																					p.D1427Y		.											.	.	.	0			c.G4279T						.						136	142	140					X																	117777438		2203	4300	6503	SO:0001583	missense	139818	exon40			AATAATGATGGCC	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.4279G>T	X.37:g.117777438G>T	ENSP00000276202:p.Asp1427Tyr	231	0		97	4	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233552	0.39498	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.59906	0.23;0.23	5.22	5.22	0.72569	.	0.099061	0.64402	D	0.000002	T	0.61578	0.2358	M	0.74881	2.28	0.48185	D	0.999602	B;B	0.20780	0.048;0.024	B;B	0.22152	0.038;0.038	T	0.61078	-0.7135	10	0.46703	T	0.11	-10.8588	18.1307	0.89600	0.0:0.0:1.0:0.0	.	1427;1427	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Y	1427	ENSP00000276204:D1427Y;ENSP00000276202:D1427Y	ENSP00000276202:D1427Y	D	+	1	0	DOCK11	117661466	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.347000	0.52200	2.304000	0.77564	0.600000	0.82982	GAT	.		0.328	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		T	117777438	G	T	117777438	3	4	14	1	0	0	0	0	1	0	0	0	4700	1290	45	3	4437	3	DOCK11	23	117777438	Missense_Mutation	SNP	G	TCGA-W5-AA2T-01A-12D-A417-09	51011528	117777438	37493122	106	1973											
UBE4B	10277	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	10205034	10205034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:10205034G>A	ENST00000253251.8	+	17	2852	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	UBE4B_ENST00000343090.6_Nonsense_Mutation_p.W800*|UBE4B_ENST00000377157.3_Nonsense_Mutation_p.W555*					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)		AAAGCCAATGGAAAGATTCCC	0.388																																					p.W800X		.											.	.	.	0			c.G2400A						.						72	70	71					1																	10205034		2203	4300	6503	SO:0001587	stop_gained	10277	exon18			CCAATGGAAAGAT	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.2013G>A	1.37:g.10205034G>A	ENSP00000253251:p.Trp671*	55	0		51	33	NM_001105562		Nonsense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	47	13.862914	0.99767	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1466	20.1047	0.97888	0.0:0.0:1.0:0.0	.	.	.	.	X	671;555;800	.	ENSP00000253251:W671X	W	+	3	0	UBE4B	10127621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.183000	0.94887	2.762000	0.94881	0.655000	0.94253	TGG	.		0.388	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		A	10205034	G	A	10205034	4	1	15	1	0	0	0	0	0	1	0	0	16932	1183	41	3	2470	3	UBE4B	1	10205034	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		10205034	239045587	1	1974											
PGD	5226	ucsc.edu;bcgsc.ca	37	1	10478978	10478978	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:10478978G>A	ENST00000270776.8	+	11	1243	c.1205G>A	c.(1204-1206)tGc>tAc	p.C402Y	PGD_ENST00000541529.1_Missense_Mutation_p.C380Y|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000538557.1_Missense_Mutation_p.C389Y	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	402					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)	GTTGAAAACTGCCAGGTATGT	0.423																																					p.C402Y													.	PGD	39	0			c.G1205A						.						97	94	95					1																	10478978		2203	4300	6503	SO:0001583	missense	5226	exon11			AAAACTGCCAGGT	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.1205G>A	1.37:g.10478978G>A	ENSP00000270776:p.Cys402Tyr	41	0		38	4	NM_002631	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	g	24.5	4.540396	0.85917	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.39997	1.05;1.05;1.05	5.08	5.08	0.68730	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.41824	1.3	0.80722	D	1	D;D;D	0.71674	0.989;0.998;0.998	P;D;D	0.75484	0.902;0.986;0.986	T	0.50457	-0.8826	10	0.31617	T	0.26	-28.9237	18.8956	0.92421	0.0:0.0:1.0:0.0	.	380;402;402	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	Y	380;348;402;389	ENSP00000442285:C380Y;ENSP00000270776:C402Y;ENSP00000437822:C389Y	ENSP00000270776:C402Y	C	+	2	0	PGD	10401565	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.651000	0.74372	2.531000	0.85337	0.645000	0.84053	TGC	.		0.423	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		A	10478978	G	A	10478978	3	1	15	1	0	0	0	0	1	0	0	0	11826	1319	46	3	1247	3	PGD	1	10478978	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	273944	10478978	238771643	2	1975											
USP48	84196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	22063114	22063114	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:22063114C>T	ENST00000308271.9	-	9	1644	c.996G>A	c.(994-996)ggG>ggA	p.G332G	USP48_ENST00000400301.1_Silent_p.G332G|USP48_ENST00000529637.1_Silent_p.G332G|USP48_ENST00000421625.2_Silent_p.G332G	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	332	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ACACGTAGGACCCACCTGGAG	0.433																																					p.G332G		.											.	.	.	0			c.G996A						.						74	67	69					1																	22063114		2203	4300	6503	SO:0001819	synonymous_variant	84196	exon9			GTAGGACCCACCT	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.996G>A	1.37:g.22063114C>T		49	0		40	17	NM_001032730	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	CCDS30623.1																																																																																			.		0.433	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		T	22063114	C	T	22063114	2	4	15	1	0	0	0	0	0	0	0	1	17128	494	18	3		3	USP48	1	22063114	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	11584136	22063114	227187507	3	1976											
HSPG2	3339	hgsc.bcm.edu	37	1	22214554	22214554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:22214554G>A	ENST00000374695.3	-	7	659	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	194					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)	CTTGGGAACTGGGGCACTGCA	0.647																																					p.Q194X		.											HSPG2,NS,malignant_melanoma,0,2	HSPG2	0	0			c.C580T						.						59	53	55					1																	22214554		2203	4300	6503	SO:0001587	stop_gained	3339	exon7			GGAACTGGGGCAC	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.580C>T	1.37:g.22214554G>A	ENSP00000363827:p.Gln194*	29	0		30	2	NM_005529	Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161651	0.78226	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.32	5.32	0.75619	.	0.252388	0.21699	N	0.070444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	16.4889	0.84193	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000363827:Q194X	Q	-	1	0	HSPG2	22087141	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.467000	0.66737	2.504000	0.84457	0.462000	0.41574	CAG	.		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22214554	G	A	22214554	4	1	15	1	0	0	0	0	0	1	0	0	7457	1357	47	3	12959	3	HSPG2	1	22214554	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	151440	22214554	227036067	4	1977											
IL22RA1	58985	ucsc.edu	37	1	24460734	24460734	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:24460734G>T	ENST00000270800.1	-	4	536	c.498C>A	c.(496-498)caC>caA	p.H166Q		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	166	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GGAGCTCTAAGTGGTAGAACA	0.527																																					p.H166Q													.	IL22RA1	62	0			c.C498A						.						106	87	93					1																	24460734		2203	4300	6503	SO:0001583	missense	58985	exon4			CTCTAAGTGGTAG	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.498C>A	1.37:g.24460734G>T	ENSP00000270800:p.His166Gln	49	0		43	4	NM_021258	A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	CCDS247.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544557	0.45280	.	.	ENSG00000142677	ENST00000270800	T	0.40756	1.02	4.98	4.06	0.47325	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.701271	0.14351	N	0.325085	T	0.27594	0.0678	N	0.24115	0.695	0.29850	N	0.828511	B;B	0.18741	0.03;0.03	B;B	0.17098	0.017;0.017	T	0.09751	-1.0660	10	0.23891	T	0.37	-18.1229	9.7927	0.40715	0.0995:0.0:0.9005:0.0	.	58;166	B4E2V9;Q8N6P7	.;I22R1_HUMAN	Q	166	ENSP00000270800:H166Q	ENSP00000270800:H166Q	H	-	3	2	IL22RA1	24333321	0.004000	0.15560	0.916000	0.36221	0.935000	0.57460	0.378000	0.20569	2.313000	0.78055	0.561000	0.74099	CAC	.		0.527	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			T	24460734	G	T	24460734	3	4	15	1	0	0	0	0	1	0	0	0	7700	1020	36	3	1242	3	IL22RA1	1	24460734	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2246180	24460734	224789887	5	1978											
WDTC1	23038	bcgsc.ca	37	1	27609889	27609889	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:27609889G>T	ENST00000319394.3	+	5	775	c.240G>T	c.(238-240)aaG>aaT	p.K80N	WDTC1_ENST00000361771.3_Missense_Mutation_p.K80N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	80					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)		TGCACCACAAGAAGCTGCTCT	0.532																																					p.K80N													WDTC1,NS,carcinoma,+2,1	WDTC1	69	0			c.G240T						.						117	100	106					1																	27609889		2203	4300	6503	SO:0001583	missense	23038	exon5			CCACAAGAAGCTG	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.240G>T	1.37:g.27609889G>T	ENSP00000317971:p.Lys80Asn	27	0		15	3	NM_015023	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	G	17.46	3.395221	0.62066	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.82081	-1.57;-1.57	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.189087	0.56097	D	0.000029	D	0.89083	0.6614	M	0.88310	2.945	0.80722	D	1	P;P	0.48998	0.918;0.835	P;B	0.49192	0.602;0.318	D	0.89446	0.3727	10	0.38643	T	0.18	.	18.0683	0.89398	0.0:0.0:1.0:0.0	.	80;80	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	N	80	ENSP00000317971:K80N;ENSP00000355317:K80N	ENSP00000317971:K80N	K	+	3	2	WDTC1	27482476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.278000	0.65592	2.510000	0.84645	0.655000	0.94253	AAG	.		0.532	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		T	27609889	G	T	27609889	3	4	15	1	0	0	0	0	1	0	0	0	17391	933	33	3	254	3	WDTC1	1	27609889	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	3149155	27609889	221640732	6	1979											
PUM1	9698	hgsc.bcm.edu	37	1	31465481	31465481	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:31465481G>T	ENST00000257075.5	-	7	1007	c.914C>A	c.(913-915)tCt>tAt	p.S305Y	PUM1_ENST00000373747.3_Missense_Mutation_p.S305Y|PUM1_ENST00000440538.2_Missense_Mutation_p.S305Y|PUM1_ENST00000373742.2_Missense_Mutation_p.S245Y|PUM1_ENST00000423018.2_Missense_Mutation_p.S209Y|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.S341Y|PUM1_ENST00000426105.2_Missense_Mutation_p.S305Y	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	305					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.S305F(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCATTAGCAGAGTTCTGGCA	0.493																																					p.S305Y		.											PUM1,NS,carcinoma,0,1	PUM1	0	1	Substitution - Missense(1)	endometrium(1)	c.C914A						.						75	70	72					1																	31465481		2203	4300	6503	SO:0001583	missense	9698	exon7			TTAGCAGAGTTCT	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.914C>A	1.37:g.31465481G>T	ENSP00000257075:p.Ser305Tyr	28	0		31	2	NM_014676	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823798	0.90873	.	.	ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T	0.32753	1.44;1.75;1.73;1.72;1.71;1.8;1.62	5.56	5.56	0.83823	.	0.165679	0.64402	D	0.000016	T	0.57330	0.2046	M	0.68317	2.08	0.80722	D	1	D;B;D;P;D;D;D	0.76494	0.96;0.38;0.999;0.514;0.999;0.999;0.999	P;B;D;B;D;D;D	0.83275	0.723;0.248;0.996;0.431;0.996;0.996;0.996	T	0.57940	-0.7724	10	0.87932	D	0	-6.8642	19.8898	0.96926	0.0:0.0:1.0:0.0	.	245;209;341;305;305;305;305	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4	.;.;.;.;PUM1_HUMAN;.;.	Y	305;305;305;305;341;209;245;305	ENSP00000257075:S305Y;ENSP00000362852:S305Y;ENSP00000391723:S305Y;ENSP00000401777:S305Y;ENSP00000362846:S341Y;ENSP00000399440:S209Y;ENSP00000362847:S245Y	ENSP00000257075:S305Y	S	-	2	0	PUM1	31238068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.775000	0.95449	0.655000	0.94253	TCT	.		0.493	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			T	31465481	G	T	31465481	3	4	15	1	0	0	0	0	1	0	0	0	12870	942	33	3	2716	3	PUM1	1	31465481	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	3855592	31465481	217785140	7	1980											
C1orf94	84970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	34663014	34663014	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:34663014G>A	ENST00000488417.1	+	2	629	c.509G>A	c.(508-510)aGt>aAt	p.S170N	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	170										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)				GTGGCAGGCAGTAATGAGCGC	0.602																																					p.S170N		.											.	.	.	0			c.G509A						.						19	23	21					1																	34663014		692	1591	2283	SO:0001583	missense	84970	exon2			CAGGCAGTAATGA	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.509G>A	1.37:g.34663014G>A	ENSP00000435634:p.Ser170Asn	23	0		29	13	NM_001134734	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	6.225	0.409666	0.11812	.	.	ENSG00000142698	ENST00000488417	T	0.26067	1.76	5.35	3.48	0.39840	.	.	.	.	.	T	0.20373	0.0490	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.19353	-1.0308	9	0.51188	T	0.08	-25.6678	8.0901	0.30795	0.1865:0.0:0.8135:0.0	.	170	Q6P1W5	CA094_HUMAN	N	170	ENSP00000435634:S170N	ENSP00000435634:S170N	S	+	2	0	C1orf94	34435601	0.084000	0.21492	0.001000	0.08648	0.019000	0.09904	2.091000	0.41691	0.630000	0.30394	0.655000	0.94253	AGT	.		0.602	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		A	34663014	G	A	34663014	3	1	15	1	0	0	0	0	1	0	0	0	2078	1029	36	3	515	3	C1orf94	1	34663014	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	3197533	34663014	214587607	8	1981											
PTPRF	5792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	44085499	44085499	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:44085499A>G	ENST00000359947.4	+	29	5421	c.5081A>G	c.(5080-5082)tAc>tGc	p.Y1694C	PTPRF_ENST00000438120.1_Missense_Mutation_p.Y1685C|PTPRF_ENST00000372413.3_Missense_Mutation_p.Y1685C|PTPRF_ENST00000422171.2_Missense_Mutation_p.Y1053C|PTPRF_ENST00000372414.3_Missense_Mutation_p.Y1694C|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1694	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)				GGCTCTGACTACATCAATGCC	0.587																																					p.Y1694C		.											.	.	.	0			c.A5081G						.						132	108	116					1																	44085499		2203	4300	6503	SO:0001583	missense	5792	exon29			CTGACTACATCAA	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.5081A>G	1.37:g.44085499A>G	ENSP00000353030:p.Tyr1694Cys	20	0		27	10	NM_002840	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.57|19.57	3.853051|3.853051	0.71719|0.71719	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.38077	.|1.16;1.16;1.16;1.16;1.16;1.16	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.31381	.|N	.|0.007759	T|T	0.77565|0.77565	0.4149|0.4149	H|H	0.99379|0.99379	4.54|4.54	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;1.0;1.0;0.999;1.0	D|D	0.87838|0.87838	0.2649|0.2649	5|10	.|0.87932	.|D	.|0	.|.	16.0164|16.0164	0.80443|0.80443	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1339;1053;1271;1685;1694	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	A|C	1340|1694;1685;1694;1685;1053;766	.|ENSP00000353030:Y1694C;ENSP00000398822:Y1685C;ENSP00000361491:Y1694C;ENSP00000361490:Y1685C;ENSP00000387885:Y1053C;ENSP00000361484:Y766C	.|ENSP00000353030:Y1694C	T|Y	+|+	1|2	0|0	PTPRF|PTPRF	43858086|43858086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	9.281000|9.281000	0.95811|0.95811	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	ACA|TAC	.		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44085499	A	G	44085499	3	3	15	1	0	0	0	0	1	0	0	0	12846	391	14	4	5187	4	PTPRF	1	44085499	Missense_Mutation	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	9422485	44085499	205165122	9	1982											
KTI12	112970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	52498812	52498812	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:52498812G>T	ENST00000371614.1	-	1	676	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	208							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCCTCCAGGAGTTCGGGAGAG	0.587																																					p.L208I		.											.	.	.	0			c.C622A						.						48	54	52					1																	52498812		2203	4300	6503	SO:0001583	missense	112970	exon1			CCAGGAGTTCGGG		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.622C>A	1.37:g.52498812G>T	ENSP00000360676:p.Leu208Ile	63	0		88	27	NM_138417		Missense_Mutation	SNP	ENST00000371614.1	37	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	2.277	-0.365624	0.05069	.	.	ENSG00000198841	ENST00000371614	T	0.33654	1.4	4.5	2.6	0.31112	.	0.170837	0.34200	U	0.004170	T	0.16257	0.0391	N	0.21545	0.675	0.09310	N	0.999999	P	0.38223	0.623	B	0.34301	0.179	T	0.26538	-1.0100	10	0.02654	T	1	.	6.7454	0.23458	0.0956:0.3431:0.5613:0.0	.	208	Q96EK9	KTI12_HUMAN	I	208	ENSP00000360676:L208I	ENSP00000360676:L208I	L	-	1	0	KTI12	52271400	0.986000	0.35501	0.878000	0.34440	0.481000	0.33189	1.741000	0.38238	0.503000	0.28060	0.557000	0.71058	CTC	.		0.587	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		T	52498812	G	T	52498812	3	4	15	1	0	0	0	0	1	0	0	0	8612	1029	36	3	446	3	KTI12	1	52498812	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	8413313	52498812	196751809	10	1983											
LDLRAD1	388633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	54474764	54474764	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:54474764C>A	ENST00000371360.1	-	6	526	c.509G>T	c.(508-510)tGt>tTt	p.C170F	LDLRAD1_ENST00000371362.3_Missense_Mutation_p.C81F|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.C127F|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.C131F	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	170	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						GGTTGAAGGACAGCGCCACCA	0.592																																					p.C170F		.											.	.	.	0			c.G509T						.						114	107	110					1																	54474764		2203	4300	6503	SO:0001583	missense	388633	exon6			GAAGGACAGCGCC		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 1"				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.509G>T	1.37:g.54474764C>A	ENSP00000360411:p.Cys170Phe	13	0		14	4	NM_001010978	A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170324	0.38315	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000004	D	0.99674	0.9878	M	0.71581	2.175	0.50813	D	0.99989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97291	0.9924	10	0.87932	D	0	-23.7599	16.1603	0.81700	0.0:1.0:0.0:0.0	.	127;170	B7ZME3;Q5T700	.;LRAD1_HUMAN	F	81;170;127;131	ENSP00000360413:C81F;ENSP00000360411:C170F;ENSP00000445871:C127F;ENSP00000411017:C131F	ENSP00000360411:C170F	C	-	2	0	LDLRAD1	54247352	1.000000	0.71417	0.512000	0.27736	0.007000	0.05969	5.081000	0.64444	2.348000	0.79779	0.655000	0.94253	TGT	.		0.592	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978		A	54474764	C	A	54474764	3	1	15	1	0	0	0	0	1	0	0	0	8733	478	17	3	112	3	LDLRAD1	1	54474764	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	1975952	54474764	194775857	11	1984											
TMEM59	9528	hgsc.bcm.edu	37	1	54512947	54512947	+	Silent	SNP	A	A	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:54512947A>G	ENST00000234831.5	-	2	537	c.288T>C	c.(286-288)tgT>tgC	p.C96C	TMEM59_ENST00000371337.3_Silent_p.C96C|TMEM59_ENST00000371348.1_5'UTR|TMEM59_ENST00000371341.1_5'UTR|TMEM59_ENST00000371344.1_5'Flank	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	96					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						TACCAGATTCACATTCCAATT	0.363																																					p.C96C		.											.	.	.	0			c.T288C						.						115	102	106					1																	54512947		2203	4300	6503	SO:0001819	synonymous_variant	9528	exon2			AGATTCACATTCC	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.288T>C	1.37:g.54512947A>G		49	0		69	4	NM_004872	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Silent	SNP	ENST00000234831.5	37	CCDS586.1																																																																																			.		0.363	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		G	54512947	A	G	54512947	2	3	15	1	0	0	0	0	0	0	0	1	16232	157	6	4		4	TMEM59	1	54512947	Silent	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	38183	54512947	194737674	12	1985											
KCNN3	3782	hgsc.bcm.edu	37	1	154842252	154842253	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	AG	AG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:154842252_154842253AG>CT	ENST00000271915.4	-	1	503_504	c.188_189CT>AG	c.(187-189)cCT>cAG	p.P63Q	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	63	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)	gaagctgcggaggctgaggctg	0.698																																					p.P63Q		.											.	.	.	0			c.C188A						.																																			SO:0001583	missense	3782	exon1			TGCGGAGGCTGAG	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.188_189delinsCT	1.37:g.154842252_154842253delinsCT	ENSP00000271915:p.Pro63Gln	27	0		44	6	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	DNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		CT	154842253	AG	CT	154842252	3	2	15	1	0	0	0	0	1	0	0	0	8107	291	11	4	2060	4	KCNN3	1	154842252	Missense_Mutation	DNP	AG	TCGA-W5-AA2U-01A-11D-A417-09	100329305	154842252	94408369	13	1986											
BCAN	63827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156622711	156622711	+	Intron	SNP	C	C	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:156622711C>G	ENST00000329117.5	+	8	2278				RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.L657V	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						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)	p.L657I(1)		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)					CTCAACTGCCCTCTCTATCCT	0.587																																					p.L657V		.											.	.	.	1	Substitution - Missense(1)	lung(1)	c.C1969G						.						112	84	94					1																	156622711		2162	4242	6404	SO:0001627	intron_variant	63827	exon8			ACTGCCCTCTCTA	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.1942+27C>G	1.37:g.156622711C>G		21	0		29	11	NM_198427	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101288	0.06967	.	.	ENSG00000132692	ENST00000361588	T	0.05382	3.45	4.0	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47911	-0.9080	7	.	.	.	.	5.6596	0.17662	0.0:0.4869:0.3191:0.1941	.	657	Q96GW7-2	.	V	657	ENSP00000354925:L657V	.	L	+	1	0	BCAN	154889335	0.003000	0.15002	0.001000	0.08648	0.203000	0.24098	0.251000	0.18257	0.085000	0.17107	0.455000	0.32223	CTC	.		0.587	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156622711	C	G	156622711	1	3	15	0	1	0	0	0	0	0	0	0	1346	681	24	5		5	BCAN	1	156622711	Intron	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	1780459	156622711	92627910	14	1987											
PAPPA2	60676	hgsc.bcm.edu	37	1	176759060	176759060	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:176759060G>T	ENST00000367662.3	+	18	5995	c.4831G>T	c.(4831-4833)Ggc>Tgc	p.G1611C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1611	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						ATGTACCAATGGCTTCAGCCT	0.483																																					p.G1611C		.											.	.	.	0			c.G4831T						.						142	140	141					1																	176759060		1997	4167	6164	SO:0001583	missense	60676	exon18			ACCAATGGCTTCA	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.4831G>T	1.37:g.176759060G>T	ENSP00000356634:p.Gly1611Cys	59	0		88	4	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241085	0.79912	.	.	ENSG00000116183	ENST00000367662	T	0.02216	4.39	5.51	5.51	0.81932	Complement control module (1);Sushi/SCR/CCP (2);	0.052843	0.85682	D	0.000000	T	0.14399	0.0348	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00047	-1.2209	10	0.87932	D	0	-26.2527	16.3531	0.83224	0.0:0.0:1.0:0.0	.	1611	Q9BXP8	PAPP2_HUMAN	C	1611	ENSP00000356634:G1611C	ENSP00000356634:G1611C	G	+	1	0	PAPPA2	175025683	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.743000	0.74848	2.582000	0.87167	0.557000	0.71058	GGC	.		0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176759060	G	T	176759060	3	4	15	1	0	0	0	0	1	0	0	0	11472	1348	47	3	4950	3	PAPPA2	1	176759060	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	20136349	176759060	72491561	15	1988											
PTPRC	5788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	198710997	198710997	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:198710997G>T	ENST00000367376.2	+	24	2568		c.e24-1		PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000348564.6_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						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						CTCTTGACTAGAAAAAAGAAA	0.408																																					.		.											.	.	.	0			c.1921-1G>T						.						30	32	31					1																	198710997		2203	4299	6502	SO:0001630	splice_region_variant	5788	exon21			TGACTAGAAAAAA	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.2398-1G>T	1.37:g.198710997G>T		16	0		30	13	NM_080921	A8K7W6|Q16614|Q9H0Y6	Splice_Site	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.697611	0.88830	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRC	196977620	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.692000	0.91284	2.825000	0.97269	0.655000	0.94253	.	.		0.408	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	T	198710997	G	T	198710997	5	4	15	1	0	0	0	0	0	0	1	0	12842	956	33	3	2498	3	PTPRC	1	198710997	Splice_Site	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	21951937	198710997	50539624	16	1989											
WDR26	80232	hgsc.bcm.edu	37	1	224599141	224599141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr1:224599141C>T	ENST00000414423.2	-	7	1339	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Nonsense_Mutation_p.W235*	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	382						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)		GATCAACTTGCCATATGATAA	0.313																																					p.W382X		.											.	.	.	0			c.G1146A						.						141	118	126					1																	224599141		2203	4300	6503	SO:0001587	stop_gained	80232	exon7			AACTTGCCATATG	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.1146G>A	1.37:g.224599141C>T	ENSP00000408108:p.Trp382*	62	0		79	3	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Nonsense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.156159|9.156159	0.99084|0.99084	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000480676|ENST00000414423;ENST00000295024	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48003|.	0.1476|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35968|.	-0.9767|.	4|.	.|0.02654	.|T	.|1	.|.	19.8424|19.8424	0.96695|0.96695	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	16|382;235	.|.	.|ENSP00000295024:W235X	A|W	-|-	1|3	0|0	WDR26|WDR26	222665764|222665764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	GCA|TGG	.		0.313	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		T	224599141	C	T	224599141	4	4	15	1	0	0	0	0	0	1	0	0	17332	740	26	3	871	3	WDR26	1	224599141	Nonsense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	25888144	224599141	24651480	17	1990											
SNTG2	54221	hgsc.bcm.edu	37	2	1168797	1168797	+	Silent	SNP	C	C	T	rs374240224		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:1168797C>T	ENST00000308624.5	+	8	648	c.519C>T	c.(517-519)agC>agT	p.S173S	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	173					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)		GGCCATCCAGCGACCACAGCA	0.498																																					p.S173S		.											SNTG2,NS,neuroblastoma,0,1	SNTG2	0	0			c.C519T						.						129	136	134					2																	1168797		1988	4166	6154	SO:0001819	synonymous_variant	54221	exon8			ATCCAGCGACCAC	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.519C>T	2.37:g.1168797C>T		54	0		86	4	NM_018968	Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																			.		0.498	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		T	1168797	C	T	1168797	2	4	15	1	0	0	0	0	0	0	0	1	14920	767	27	1		1	SNTG2	2	1168797	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09		1168797	242030576	18	1991											
CLIP4	79745	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	29366790	29366792	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:29366790_29366792delTGT	ENST00000320081.5	+	7	1119_1121	c.864_866delTGT	c.(862-867)cgtgtt>cgt	p.V290del	CLIP4_ENST00000401605.1_In_Frame_Del_p.V290del|CLIP4_ENST00000401617.2_In_Frame_Del_p.V183del|CLIP4_ENST00000404424.1_In_Frame_Del_p.V290del	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	290										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGGGGGATCGTGTTGTTATTGCA	0.458																																					p.288_289del		.											.	.	.	0			c.863_865del						.																																			SO:0001651	inframe_deletion	79745	exon7			GGATCGTGTTGTT	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.864_866delTGT	2.37:g.29366793_29366795delTGT	ENSP00000327009:p.Val290del	35	0		61	16	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	In_Frame_Del	DEL	ENST00000320081.5	37	CCDS1770.1																																																																																			.		0.458	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		-	29366792	TGT	-	29366790	7	5	15	1	0	1	0	1	0	0	0	0	3542	1683	59	0	886	0	CLIP4	2	29366790	In_Frame_Del	DEL	TGT	TCGA-W5-AA2U-01A-11D-A417-09	28197993	29366790	213832583	19	1992											
BIRC6	57448	bcgsc.ca	37	2	32631613	32631613	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:32631613G>T	ENST00000421745.2	+	9	1599	c.1465G>T	c.(1465-1467)Gat>Tat	p.D489Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	489					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)					TTCCAGATCAGATTCTGTGAC	0.284																																					p.D489Y	Pancreas(94;175 1509 16028 18060 45422)												.	BIRC6	838	0			c.G1465T						.						70	77	75					2																	32631613		2203	4300	6503	SO:0001583	missense	57448	exon9			AGATCAGATTCTG	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.1465G>T	2.37:g.32631613G>T	ENSP00000393596:p.Asp489Tyr	51	0		101	4	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296606	0.60086	.	.	ENSG00000115760	ENST00000421745	T	0.76186	-1.0	5.63	5.63	0.86233	.	0.132923	0.49305	D	0.000152	T	0.60314	0.2259	N	0.08118	0	0.58432	D	0.999997	P	0.43094	0.799	B	0.39617	0.305	T	0.68209	-0.5469	10	0.59425	D	0.04	.	19.6961	0.96026	0.0:0.0:1.0:0.0	.	489	Q9NR09	BIRC6_HUMAN	Y	489	ENSP00000393596:D489Y	ENSP00000393596:D489Y	D	+	1	0	BIRC6	32485117	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.414000	0.97362	2.654000	0.90174	0.650000	0.86243	GAT	.		0.284	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32631613	G	T	32631613	3	4	15	1	0	0	0	0	1	0	0	0	1440	942	33	3	1499	3	BIRC6	2	32631613	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	3264823	32631613	210567760	20	1993											
SRBD1	55133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	45807033	45807033	+	Silent	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:45807033G>A	ENST00000263736.4	-	7	1115	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	351					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)			CAGGCCTAATGTACGATAGCA	0.398																																					p.Y351Y		.											.	.	.	0			c.C1053T						.						188	182	184					2																	45807033		2203	4300	6503	SO:0001819	synonymous_variant	55133	exon7			CCTAATGTACGAT	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.1053C>T	2.37:g.45807033G>A		41	0		76	42	NM_018079	Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	CCDS1823.1																																																																																			.		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		A	45807033	G	A	45807033	2	1	15	1	0	0	0	0	0	0	0	1	15180	1372	48	3		3	SRBD1	2	45807033	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	13175420	45807033	197392340	21	1994											
ERLEC1	27248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	54035592	54035592	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:54035592C>T	ENST00000185150.4	+	9	1167	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.R346C	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	346	PRKCSH 2.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTACTGCTTTCGTGGGGTGAG	0.403																																					p.R346C		.											ERLEC1,NS,carcinoma,0,1	ERLEC1	0	0			c.C1036T						.						95	98	97					2																	54035592		2203	4300	6503	SO:0001583	missense	27248	exon9			TGCTTTCGTGGGG	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.1036C>T	2.37:g.54035592C>T	ENSP00000185150:p.Arg346Cys	64	0		93	20	NM_015701	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732573	0.69189	.	.	ENSG00000068912	ENST00000405123;ENST00000185150	T;T	0.03982	3.74;3.74	5.02	5.02	0.67125	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.141227	0.64402	D	0.000005	T	0.12092	0.0294	.	.	.	0.80722	D	1	D;P	0.57571	0.98;0.951	B;P	0.49887	0.17;0.625	T	0.01639	-1.1306	9	0.45353	T	0.12	-8.8904	18.6995	0.91615	0.0:1.0:0.0:0.0	.	346;346	B5MC72;Q96DZ1	.;ERLEC_HUMAN	C	346	ENSP00000385629:R346C;ENSP00000185150:R346C	ENSP00000185150:R346C	R	+	1	0	ERLEC1	53889096	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.615000	0.83006	2.479000	0.83701	0.491000	0.48974	CGT	.		0.403	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		T	54035592	C	T	54035592	3	4	15	1	0	0	0	0	1	0	0	0	5247	884	31	1	1070	1	ERLEC1	2	54035592	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	8228559	54035592	189163781	22	1995											
SPTBN1	6711	broad.mit.edu	37	2	54877117	54877117	+	Silent	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:54877117G>T	ENST00000356805.4	+	26	5849	c.5568G>T	c.(5566-5568)ctG>ctT	p.L1856L	SPTBN1_ENST00000333896.5_Silent_p.L1843L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1856	Interaction with ANK2.				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)			TCCAGGCTCTGGGCACACAGG	0.512																																					p.L1856L													.	SPTBN1	378	0			c.G5568T						.						68	70	69					2																	54877117		2203	4300	6503	SO:0001819	synonymous_variant	0	exon26			GGCTCTGGGCACA		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.5568G>T	2.37:g.54877117G>T		26	0		36	3	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																			.		0.512	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54877117	G	T	54877117	2	4	15	1	0	0	0	0	0	0	0	1	15166	1335	47	3		3	SPTBN1	2	54877117	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	841525	54877117	188322256	23	1996											
C2orf86	51057	hgsc.bcm.edu;bcgsc.ca	37	2	63609210	63609210	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:63609210C>T	ENST00000272321.7	-	11	1982	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	WDPCP_ENST00000409199.1_Silent_p.Q293Q|WDPCP_ENST00000409562.3_Silent_p.Q485Q|WDPCP_ENST00000398544.3_Silent_p.Q326Q|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_Silent_p.Q293Q	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	485					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						TCAGGCCCAGCTGTCCTCGAG	0.398																																					p.Q485Q		.											.	.	.	0			c.G1455A						.						69	66	67					2																	63609210		1923	4138	6061	SO:0001819	synonymous_variant	51057	exon11			GCCCAGCTGTCCT		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.1455G>A	2.37:g.63609210C>T		38	0		66	4	NM_015910	Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	CCDS42688.1																																																																																			.		0.398	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		T	63609210	C	T	63609210	2	4	15	1	0	0	0	0	0	0	0	1	2208	796	28	3		3	C2orf86	2	63609210	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	8732093	63609210	179590163	24	1997											
WDR33	55339	hgsc.bcm.edu;broad.mit.edu	37	2	128522166	128522166	+	Intron	SNP	C	C	T	rs557391879		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:128522166C>T	ENST00000322313.4	-	6	785				WDR33_ENST00000409658.3_Missense_Mutation_p.A288T|WDR33_ENST00000393006.1_Intron	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						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)		GTGCAAAATGCGGCAGACAGT	0.343																																					p.A288T		.											WDR33_ENST00000409658,NS,carcinoma,0,1	WDR33_ENST00000409658	0	0			c.G862A						.						44	43	43					2																	128522166		1116	2180	3296	SO:0001627	intron_variant	55339	exon6			AAAATGCGGCAGA		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.626+235G>A	2.37:g.128522166C>T		30	0		44	3	NM_001006622	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	1.183	-0.637615	0.03557	.	.	ENSG00000136709	ENST00000409658	T	0.38240	1.15	5.91	2.69	0.31865	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.23162	N	0.998193	B	0.12630	0.006	B	0.08055	0.003	T	0.31475	-0.9942	8	0.09338	T	0.73	.	8.1008	0.30857	0.0:0.6402:0.0:0.3598	.	288	Q9C0J8-2	.	T	288	ENSP00000387186:A288T	ENSP00000387186:A288T	A	-	1	0	WDR33	128238636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.096000	0.30976	0.233000	0.21120	0.655000	0.94253	GCA	.		0.343	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		T	128522166	C	T	128522166	1	4	15	0	1	0	0	0	0	0	0	0	17336	768	27	1		1	WDR33	2	128522166	Intron	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	64912956	128522166	114677207	25	1998											
LRP1B	53353	hgsc.bcm.edu	37	2	141812690	141812690	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:141812690C>T	ENST00000389484.3	-	10	2518	c.1547G>A	c.(1546-1548)tGc>tAc	p.C516Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	516	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.			C -> Y (in Ref. 2; AAL38107). {ECO:0000305}.	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)		CATACTTTTGCATGACCTGCC	0.428										TSP Lung(27;0.18)																											p.C516Y	Colon(99;50 2074 2507 20106)	.											LRP1B,NS,carcinoma,0,1	LRP1B	0	0			c.G1547A						.						95	83	87					2																	141812690		2203	4300	6503	SO:0001583	missense	53353	exon10			CTTTTGCATGACC	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.1547G>A	2.37:g.141812690C>T	ENSP00000374135:p.Cys516Tyr	35	0		41	2	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038855	0.75617	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99042	-5.36	5.45	4.56	0.56223	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98839	0.9608	H	0.94306	3.52	0.58432	D	0.999995	P	0.46277	0.875	B	0.41440	0.357	D	0.98408	1.0571	10	0.87932	D	0	.	15.4826	0.75539	0.1398:0.8602:0.0:0.0	.	516	Q9NZR2	LRP1B_HUMAN	Y	516;454	ENSP00000374135:C516Y	ENSP00000374135:C516Y	C	-	2	0	LRP1B	141529160	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.726000	0.84824	1.282000	0.44496	0.557000	0.71058	TGC	.		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141812690	C	T	141812690	3	4	15	1	0	0	0	0	1	0	0	0	8990	710	25	3	12580	3	LRP1B	2	141812690	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	13290524	141812690	101386683	26	1999											
SF3B1	23451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	198266713	198266713	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:198266713C>T	ENST00000335508.6	-	15	2310	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	740					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.G740E(1)		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)			ATTTACCTTTCCTCTGTGTTG	0.343			Mis		myelodysplastic syndrome																																p.G740E		.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	SF3B1,right_upper_lobe,carcinoma,0,5	SF3B1	0	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G2219A						.						87	83	85					2																	198266713		2203	4300	6503	SO:0001583	missense	23451	exon15			ACCTTTCCTCTGT	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.2219G>A	2.37:g.198266713C>T	ENSP00000335321:p.Gly740Glu	53	0		101	31	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036521	0.93630	.	.	ENSG00000115524	ENST00000335508	T	0.62364	0.03	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.107844	0.64402	D	0.000005	T	0.76449	0.3989	M	0.83692	2.655	0.80722	D	1	D	0.55800	0.973	P	0.51974	0.686	T	0.80183	-0.1488	10	0.66056	D	0.02	.	19.5659	0.95393	0.0:1.0:0.0:0.0	.	740	O75533	SF3B1_HUMAN	E	740	ENSP00000335321:G740E	ENSP00000335321:G740E	G	-	2	0	SF3B1	197974958	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.359000	0.79477	2.619000	0.88677	0.563000	0.77884	GGA	.		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198266713	C	T	198266713	3	4	15	1	0	0	0	0	1	0	0	0	14194	855	30	3	1739	3	SF3B1	2	198266713	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	56454023	198266713	44932660	27	2000											
BMPR2	659	hgsc.bcm.edu	37	2	203383553	203383553	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:203383553C>T	ENST00000374580.4	+	6	1169	c.630C>T	c.(628-630)ggC>ggT	p.G210G	BMPR2_ENST00000374574.2_Silent_p.G210G	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						AGCTGATTGGCCGAGGTCGAT	0.343																																					p.G210G		.											.	.	.	0			c.C630T						.						75	70	71					2																	203383553		2203	4300	6503	SO:0001819	synonymous_variant	659	exon6			GATTGGCCGAGGT	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.630C>T	2.37:g.203383553C>T		54	0		95	4	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	CCDS33361.1																																																																																			.		0.343	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		T	203383553	C	T	203383553	2	4	15	1	0	0	0	0	0	0	0	1	1473	726	26	3		3	BMPR2	2	203383553	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	5116840	203383553	39815820	28	2001											
ERBB4	2066	broad.mit.edu	37	2	212530115	212530115	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:212530115T>A	ENST00000342788.4	-	15	2114	c.1804A>T	c.(1804-1806)Agt>Tgt	p.S602C	ERBB4_ENST00000436443.1_Missense_Mutation_p.S602C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S602C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	602	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)	AAAATGAAACTGTTTGCCCCC	0.483										TSP Lung(8;0.080)																											p.S602C													.	ERBB4	480	0			c.A1804T						.						159	141	147					2																	212530115		2203	4300	6503	SO:0001583	missense	2066	exon15			TGAAACTGTTTGC	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.1804A>T	2.37:g.212530115T>A	ENSP00000342235:p.Ser602Cys	87	1		102	5	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.139448	0.56936	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.46451	0.87;0.87;0.87	5.56	5.56	0.83823	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	L	0.58101	1.795	0.58432	D	0.999999	D;D;P;D;D	0.71674	0.997;0.99;0.921;0.998;0.997	P;P;B;P;P	0.59056	0.753;0.608;0.355;0.851;0.714	T	0.60905	-0.7170	10	0.72032	D	0.01	.	15.7153	0.77663	0.0:0.0:0.0:1.0	.	602;602;461;602;602	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	C	602	ENSP00000342235:S602C;ENSP00000403204:S602C;ENSP00000385565:S602C	ENSP00000342235:S602C	S	-	1	0	ERBB4	212238360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.283000	0.72646	2.127000	0.65507	0.533000	0.62120	AGT	.		0.483	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212530115	T	A	212530115	3	1	15	1	0	0	0	0	1	0	0	0	5225	1580	55	5	2178	5	ERBB4	2	212530115	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	9146562	212530115	30669258	29	2002											
SCLY	51540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	238990770	238990770	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:238990770G>A	ENST00000555827.1	+	6	761	c.697G>A	c.(697-699)Gat>Aat	p.D233N	SCLY_ENST00000422984.2_Missense_Mutation_p.D139N|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.D151N|SCLY_ENST00000409736.2_Missense_Mutation_p.D233N|SCLY_ENST00000254663.6_Missense_Mutation_p.D241N			Q96I15	SCLY_HUMAN	selenocysteine lyase	233					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)		CGTGCACACGGATGCTGCACA	0.597																																					p.D241N	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	.											.	.	.	0			c.G721A						.						98	87	91					2																	238990770		2203	4300	6503	SO:0001583	missense	51540	exon6			CACACGGATGCTG	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.697G>A	2.37:g.238990770G>A	ENSP00000450613:p.Asp233Asn	11	0		35	12	NM_016510	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.090162|4.090162	0.76756|0.76756	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000437134;ENST00000440143	T;T;D;D;D;T;D|.	0.98996|.	-1.48;-1.48;-1.77;-5.31;-1.77;-1.48;-1.77|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88051|0.88051	0.6333|0.6333	H|H	0.96430|0.96430	3.82|3.82	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|.	D|D	0.91618|0.91618	0.5308|0.5308	10|5	0.87932|.	D|.	0|.	-10.9898|-10.9898	18.1424|18.1424	0.89644|0.89644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	139;233;233|.	E7ESG3;Q96I15;Q96I15-2|.	.;SCLY_HUMAN;.|.	N|E	241;233;151;147;233;139;63|76;10	ENSP00000254663:D241N;ENSP00000450613:D233N;ENSP00000362429:D151N;ENSP00000414165:D147N;ENSP00000387162:D233N;ENSP00000416865:D139N;ENSP00000414053:D63N|.	ENSP00000254663:D233N|.	D|G	+|+	1|2	0|0	SCLY|SCLY	238655509|238655509	1.000000|1.000000	0.71417|0.71417	0.109000|0.109000	0.21407|0.21407	0.029000|0.029000	0.11900|0.11900	9.752000|9.752000	0.98900|0.98900	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GAT|GGA	.		0.597	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		A	238990770	G	A	238990770	3	1	15	1	0	0	0	0	1	0	0	0	13952	1174	41	3	719	3	SCLY	2	238990770	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	26460655	238990770	4208603	30	2003											
SCLY	51540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	238990809	238990809	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:238990809G>A	ENST00000555827.1	+	6	800	c.736G>A	c.(736-738)Gag>Aag	p.E246K	SCLY_ENST00000422984.2_Missense_Mutation_p.E152K|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.E164K|SCLY_ENST00000409736.2_Missense_Mutation_p.E246K|SCLY_ENST00000254663.6_Missense_Mutation_p.E254K			Q96I15	SCLY_HUMAN	selenocysteine lyase	246					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)		CGTGGATGTGGAGGACCTGGG	0.607																																					p.E254K	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	.											.	.	.	0			c.G760A						.						82	75	77					2																	238990809		2203	4300	6503	SO:0001583	missense	51540	exon6			GATGTGGAGGACC	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.736G>A	2.37:g.238990809G>A	ENSP00000450613:p.Glu246Lys	11	0		28	10	NM_016510	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.2|24.2|24.2	4.510393|4.510393|4.510393	0.85389|0.85389|0.85389	.|.|.	.|.|.	ENSG00000132330|ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000437134;ENST00000440143|ENST00000431487	D;D;D;D;D;D;D|.|.	0.85773|.|.	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03|.|.	5.48|5.48|5.48	3.64|3.64|3.64	0.41730|0.41730|0.41730	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);|.|.	0.443591|.|.	0.27206|.|.	N|.|.	0.020435|.|.	T|T|.	0.48314|0.48314|.	0.1493|0.1493|.	N|N|N	0.17764|0.17764|0.17764	0.52|0.52|0.52	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B|.|.	0.16603|.|.	0.002;0.0;0.018|.|.	B;B;B|.|.	0.13407|.|.	0.007;0.005;0.009|.|.	T|T|.	0.39522|0.39522|.	-0.9610|-0.9610|.	10|5|.	0.02654|.|.	T|.|.	1|.|.	-7.2726|-7.2726|-7.2726	13.787|13.787|13.787	0.63117|0.63117|0.63117	0.0:0.5958:0.4042:0.0|0.0:0.5958:0.4042:0.0|0.0:0.5958:0.4042:0.0	.|.|.	152;246;246|.|.	E7ESG3;Q96I15;Q96I15-2|.|.	.;SCLY_HUMAN;.|.|.	K|E|X	254;246;164;160;246;152;76|89;23|91	ENSP00000254663:E254K;ENSP00000450613:E246K;ENSP00000362429:E164K;ENSP00000414165:E160K;ENSP00000387162:E246K;ENSP00000416865:E152K;ENSP00000414053:E76K|.|.	ENSP00000254663:E246K|.|.	E|G|W	+|+|+	1|2|3	0|0|0	SCLY|SCLY|SCLY	238655548|238655548|238655548	0.951000|0.951000|0.951000	0.32395|0.32395|0.32395	0.979000|0.979000|0.979000	0.43373|0.43373|0.43373	0.952000|0.952000|0.952000	0.60782|0.60782|0.60782	0.401000|0.401000|0.401000	0.20948|0.20948|0.20948	1.318000|1.318000|1.318000	0.45170|0.45170|0.45170	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|TGG	.		0.607	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		A	238990809	G	A	238990809	3	1	15	1	0	0	0	0	1	0	0	0	13952	1175	41	3	758	3	SCLY	2	238990809	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	39	238990809	4208564	31	2004											
HDAC4	9759	hgsc.bcm.edu;bcgsc.ca	37	2	240048352	240048352	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:240048352C>T	ENST00000345617.3	-	12	2109	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T	HDAC4_ENST00000541256.1_Missense_Mutation_p.A414T|HDAC4_ENST00000543185.1_Missense_Mutation_p.A24T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	440					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)		AAGGACTGTGCGTGGAGGGGC	0.622																																					p.A440T		.											.	.	.	0			c.G1318A						.						40	47	45					2																	240048352		2203	4300	6503	SO:0001583	missense	9759	exon12			ACTGTGCGTGGAG	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.1318G>A	2.37:g.240048352C>T	ENSP00000264606:p.Ala440Thr	52	0		66	4	NM_006037	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418311	0.25552	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.63913	0.39;-0.07;1.56	4.46	0.516	0.17019	.	0.788660	0.11343	N	0.573862	T	0.48960	0.1529	L	0.51422	1.61	0.29628	N	0.845693	B;B;B;B;B;B	0.10296	0.0;0.0;0.001;0.003;0.0;0.001	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.0;0.0	T	0.39014	-0.9634	9	.	.	.	.	3.966	0.09431	0.2819:0.4863:0.0:0.2317	.	440;323;414;414;408;440	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	T	440;328;24;414;323	ENSP00000264606:A440T;ENSP00000440481:A24T;ENSP00000443057:A414T	.	A	-	1	0	HDAC4	239713289	0.926000	0.31397	0.973000	0.42090	0.961000	0.63080	0.039000	0.13884	-0.123000	0.11745	0.563000	0.77884	GCA	.		0.622	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		T	240048352	C	T	240048352	3	4	15	1	0	0	0	0	1	0	0	0	7036	768	27	1	2000	1	HDAC4	2	240048352	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	1057543	240048352	3151021	32	2005											
GAL3ST2	64090	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	242741335	242741335	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr2:242741335G>A	ENST00000192314.6	+	3	390	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	87					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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)		GCTGCCCGCCGGCTCACGCGT	0.642																																					p.G87S		.											.	.	.	0			c.G259A						.						58	53	55					2																	242741335		2203	4298	6501	SO:0001583	missense	64090	exon3			CCCGCCGGCTCAC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.259G>A	2.37:g.242741335G>A	ENSP00000192314:p.Gly87Ser	17	0		48	9	NM_022134	Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764779	0.49574	.	.	ENSG00000154252	ENST00000192314	T	0.14893	2.47	3.8	3.8	0.43715	.	0.092462	0.47093	D	0.000241	T	0.29061	0.0722	L	0.53729	1.69	0.27689	N	0.946173	D	0.89917	1.0	D	0.71184	0.972	T	0.07046	-1.0793	10	0.08381	T	0.77	-48.0285	11.4681	0.50252	0.0:0.0:0.82:0.18	.	87	Q9H3Q3	G3ST2_HUMAN	S	87	ENSP00000192314:G87S	ENSP00000192314:G87S	G	+	1	0	GAL3ST2	242390008	0.940000	0.31905	0.267000	0.24556	0.016000	0.09150	1.952000	0.40343	2.118000	0.64928	0.306000	0.20318	GGC	.		0.642	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		A	242741335	G	A	242741335	3	1	15	1	0	0	0	0	1	0	0	0	6223	1116	39	1	269	1	GAL3ST2	2	242741335	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2692983	242741335	458038	33	2006											
CHL1	10752	hgsc.bcm.edu	37	3	383704	383704	+	Silent	SNP	T	T	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:383704T>G	ENST00000256509.2	+	7	1260	c.618T>G	c.(616-618)gcT>gcG	p.A206A	CHL1_ENST00000397491.2_Silent_p.A206A	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	Glu-rich.|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.A206A(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)		GTTGCTTTGCTGCATTTCCAA	0.373																																					p.A206A		.											CHL1,NS,carcinoma,0,1	CHL1	0	1	Substitution - coding silent(1)	lung(1)	c.T618G						.						99	95	96					3																	383704		2203	4300	6503	SO:0001819	synonymous_variant	10752	exon5			CTTTGCTGCATTT	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.618T>G	3.37:g.383704T>G		29	0		39	2	NM_001253388	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	CCDS2556.1																																																																																			.		0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		G	383704	T	G	383704	2	3	15	1	0	0	0	0	0	0	0	1	3356	1567	55	4		4	CHL1	3	383704	Silent	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09		383704	197638726	34	2007											
VGLL4	9686	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	11744451	11744451	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:11744451C>T	ENST00000273038.3	-	2	423	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	VGLL4_ENST00000404339.1_5'UTR	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial-like family member 4	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TTACGTTTTTCGTCATCAGCA	0.398																																					p.E20K		.											.	.	.	0			c.G58A						.						62	63	63					3																	11744451		2203	4300	6503	SO:0001583	missense	9686	exon2			GTTTTTCGTCATC	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"vestigial like 4 (Drosophila)"			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000273038.3:c.58G>A	3.37:g.11744451C>T	ENSP00000273038:p.Glu20Lys	92	0		105	70	NM_014667	B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000273038.3	37	CCDS2606.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337245	0.41398	.	.	ENSG00000144560	ENST00000273038;ENST00000445411;ENST00000418000;ENST00000417206;ENST00000419541	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.28	4.38	0.52667	.	0.000000	0.43110	D	0.000616	T	0.34542	0.0901	N	0.22421	0.69	0.80722	D	1	D	0.55800	0.973	P	0.48089	0.566	T	0.05419	-1.0886	10	0.30854	T	0.27	.	11.9948	0.53196	0.0:0.8254:0.1746:0.0	.	20	Q14135	VGLL4_HUMAN	K	20	ENSP00000273038:E20K;ENSP00000412923:E20K;ENSP00000394439:E20K;ENSP00000391932:E20K;ENSP00000395557:E20K	ENSP00000273038:E20K	E	-	1	0	VGLL4	11719451	1.000000	0.71417	0.966000	0.40874	0.903000	0.53119	3.859000	0.55987	1.304000	0.44892	0.462000	0.41574	GAA	.		0.398	VGLL4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251950.2	NM_014667		T	11744451	C	T	11744451	3	4	15	1	0	0	0	0	1	0	0	0	17210	893	31	1	944	1	VGLL4	3	11744451	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	11360747	11744451	186277979	35	2008											
MYH15	22989	hgsc.bcm.edu;bcgsc.ca	37	3	108174599	108174599	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:108174599C>T	ENST00000273353.3	-	21	2362	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	769	Actin-binding. {ECO:0000250}.|Myosin motor.					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						GATTCCAAATCGGTACTGGGT	0.418																																					p.R769Q		.											.	.	.	0			c.G2306A						.						186	179	182					3																	108174599		1858	4100	5958	SO:0001583	missense	22989	exon21			CCAAATCGGTACT	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.2306G>A	3.37:g.108174599C>T	ENSP00000273353:p.Arg769Gln	48	0		55	4	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500876	0.44455	.	.	ENSG00000144821	ENST00000273353	D	0.87491	-2.26	6.06	-5.93	0.02254	Myosin head, motor domain (2);	.	.	.	.	T	0.77572	0.4150	N	0.20766	0.605	0.09310	N	1	B	0.20671	0.047	B	0.21917	0.037	T	0.56553	-0.7960	9	0.34782	T	0.22	.	17.2958	0.87170	0.0:0.763:0.0:0.237	.	769	Q9Y2K3	MYH15_HUMAN	Q	769	ENSP00000273353:R769Q	ENSP00000273353:R769Q	R	-	2	0	MYH15	109657289	0.001000	0.12720	0.022000	0.16811	0.946000	0.59487	-0.792000	0.04594	-0.864000	0.04078	-1.084000	0.02203	CGA	.		0.418	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108174599	C	T	108174599	3	4	15	1	0	0	0	0	1	0	0	0	10072	884	31	1	3622	1	MYH15	3	108174599	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	96430148	108174599	89847831	36	2009											
C3orf15	89876	hgsc.bcm.edu	37	3	119466657	119466657	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:119466657G>T	ENST00000273390.5	+	16	2128		c.e16-1		RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1							mitochondrion (GO:0005739)											ATATTTTTTAGCCGAACCTAT	0.368																																					.		.											.	.	.	0			c.2052-1G>T						.						76	78	77					3																	119466657		2202	4300	6502	SO:0001630	splice_region_variant	89876	exon16			TTTTTAGCCGAAC	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.2052-1G>T	3.37:g.119466657G>T		50	0		65	4	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Splice_Site	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154973	0.78114	.	.	ENSG00000183833	ENST00000273390	.	.	.	5.43	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5987	0.68424	0.0703:0.0:0.9297:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf15	120949347	1.000000	0.71417	0.391000	0.26233	0.755000	0.42902	6.627000	0.74258	1.505000	0.48720	0.650000	0.86243	.	.		0.368	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	Intron	T	119466657	G	T	119466657	5	4	15	1	0	0	0	0	0	0	1	0	2216	985	34	3	2113	3	C3orf15	3	119466657	Splice_Site	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	11292058	119466657	78555773	37	2010											
EEFSEC	60678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	128060585	128060585	+	Silent	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:128060585G>A	ENST00000254730.6	+	5	1350	c.1296G>A	c.(1294-1296)agG>agA	p.R432R	EEFSEC_ENST00000483457.1_Silent_p.R377R|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	432					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						TTGGCTCCAGGCTAGATGCGG	0.632																																					p.R432R		.											.	.	.	0			c.G1296A						.						75	70	72					3																	128060585		2203	4300	6503	SO:0001819	synonymous_variant	60678	exon5			CTCCAGGCTAGAT		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.1296G>A	3.37:g.128060585G>A		22	0		25	7	NM_021937	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																			.		0.632	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		A	128060585	G	A	128060585	2	1	15	1	0	0	0	0	0	0	0	1	4945	1194	42	3		3	EEFSEC	3	128060585	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	8593928	128060585	69961845	38	2011											
COL6A6	131873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	130287118	130287118	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:130287118C>A	ENST00000358511.6	+	5	2102	c.2071C>A	c.(2071-2073)Caa>Aaa	p.Q691K	COL6A6_ENST00000453409.2_Missense_Mutation_p.Q691K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	691	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						TGCAATAGACCAAATGGCTCA	0.493																																					p.Q691K		.											.	.	.	0			c.C2071A						.						132	132	132					3																	130287118		1957	4144	6101	SO:0001583	missense	131873	exon5			ATAGACCAAATGG	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.2071C>A	3.37:g.130287118C>A	ENSP00000351310:p.Gln691Lys	41	0		72	28	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	2.386	-0.340886	0.05243	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77098	-1.07;-1.07	5.51	1.21	0.21127	von Willebrand factor, type A (3);	1.168170	0.06378	N	0.714674	T	0.49729	0.1574	N	0.02973	-0.45	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.41270	-0.9518	10	0.18276	T	0.48	.	2.542	0.04728	0.3436:0.3064:0.2613:0.0888	.	691	A6NMZ7	CO6A6_HUMAN	K	691	ENSP00000351310:Q691K;ENSP00000399236:Q691K	ENSP00000351310:Q691K	Q	+	1	0	COL6A6	131769808	0.000000	0.05858	0.342000	0.25602	0.020000	0.10135	-0.204000	0.09425	0.662000	0.31006	0.655000	0.94253	CAA	.		0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130287118	C	A	130287118	3	1	15	1	0	0	0	0	1	0	0	0	3710	595	21	3	2089	3	COL6A6	3	130287118	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	2226533	130287118	67735312	39	2012											
PLOD2	5352	hgsc.bcm.edu	37	3	145788922	145788922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:145788922G>T	ENST00000360060.3	-	18	2142	c.1965C>A	c.(1963-1965)taC>taA	p.Y655*	PLOD2_ENST00000282903.5_Nonsense_Mutation_p.Y676*|RP11-274H2.3_ENST00000490375.1_RNA|RP11-274H2.2_ENST00000480247.1_RNA|RP11-274H2.2_ENST00000494745.2_RNA|PLOD2_ENST00000461497.1_Nonsense_Mutation_p.Y336*|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.Y621*	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	655	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				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)	GTTCAGGGGAGTATTTTACTA	0.353																																					p.Y676X		.											.	.	.	0			c.C2028A						.						72	75	74					3																	145788922		2201	4300	6501	SO:0001587	stop_gained	5352	exon19			AGGGGAGTATTTT	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.1965C>A	3.37:g.145788922G>T	ENSP00000353170:p.Tyr655*	78	0		109	5	NM_182943	B3KWS3|Q59ED2|Q8N170	Nonsense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	G	37	6.009720	0.97200	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	.	.	.	4.9	-3.46	0.04767	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2259	13.6264	0.62168	0.5343:0.0:0.4657:0.0	.	.	.	.	X	336;676;655;621	.	ENSP00000282903:Y676X	Y	-	3	2	PLOD2	147271612	0.751000	0.28327	0.913000	0.36048	0.506000	0.33950	-0.102000	0.10956	-0.646000	0.05452	-0.998000	0.02512	TAC	.		0.353	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145788922	G	T	145788922	4	4	15	1	0	0	0	0	0	1	0	0	12141	1024	36	3	256	3	PLOD2	3	145788922	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	15501804	145788922	52233508	40	2013											
GPR87	53836	hgsc.bcm.edu	37	3	151012036	151012036	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:151012036G>T	ENST00000260843.4	-	3	1462	c.998C>A	c.(997-999)aCc>aAc	p.T333N	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	333					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)			TTCACTCCTGGTTCTGATATT	0.363																																					p.T333N		.											.	.	.	0			c.C998A						.						156	158	157					3																	151012036		2203	4300	6503	SO:0001583	missense	53836	exon3			CTCCTGGTTCTGA	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.998C>A	3.37:g.151012036G>T	ENSP00000260843:p.Thr333Asn	54	0		85	4	NM_023915	Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468073	0.43839	.	.	ENSG00000138271	ENST00000260843	T	0.37058	1.22	5.24	5.24	0.73138	.	0.149168	0.47093	D	0.000247	T	0.23014	0.0556	N	0.08118	0	0.41368	D	0.987476	P	0.49090	0.919	B	0.42882	0.401	T	0.06232	-1.0838	10	0.13470	T	0.59	-12.3313	19.1984	0.93699	0.0:0.0:1.0:0.0	.	333	Q9BY21	GPR87_HUMAN	N	333	ENSP00000260843:T333N	ENSP00000260843:T333N	T	-	2	0	GPR87	152494726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.065000	0.71176	2.609000	0.88269	0.655000	0.94253	ACC	.		0.363	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			T	151012036	G	T	151012036	3	4	15	1	0	0	0	0	1	0	0	0	6742	1261	44	3	82	3	GPR87	3	151012036	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	5223114	151012036	47010394	41	2014											
THPO	7066	hgsc.bcm.edu	37	3	184090419	184090419	+	Missense_Mutation	SNP	G	G	T	rs562029329		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:184090419G>T	ENST00000204615.7	-	6	1158	c.944C>A	c.(943-945)aCc>aAc	p.T315N	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.H276Q|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.T311N	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	315	Pro-rich.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCACAGGGGTGGGCAAGGT	0.597																																					p.T315N		.											THPO,colon,carcinoma,0,1	THPO	0	0			c.C944A						.						134	143	140					3																	184090419		2203	4300	6503	SO:0001583	missense	7066	exon6			ACAGGGGTGGGCA		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.944C>A	3.37:g.184090419G>T	ENSP00000204615:p.Thr315Asn	19	0		27	2	NM_000460	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.67|10.67	1.416008|1.416008	0.25552|0.25552	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000421442|ENST00000204615;ENST00000445696;ENST00000353488	T|T;T	0.36520|0.48836	1.25|0.8;0.82	4.09|4.09	2.19|2.19	0.27852|0.27852	.|Four-helical cytokine, core (1);	.|0.559314	.|0.16126	.|N	.|0.228426	T|T	0.30665|0.30665	0.0772|0.0772	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B|P;P	0.13145|0.48016	0.007|0.904;0.845	B|B;B	0.10450|0.38683	0.005|0.279;0.145	T|T	0.19353|0.19353	-1.0308|-1.0308	9|10	0.45353|0.72032	T|D	0.12|0.01	-17.4699|-17.4699	4.8077|4.8077	0.13328|0.13328	0.1327:0.2503:0.617:0.0|0.1327:0.2503:0.617:0.0	.|.	276|311;315	F8W6L1|P40225-2;P40225	.|.;TPO_HUMAN	Q|N	276|315;311;276	ENSP00000411704:H276Q|ENSP00000204615:T315N;ENSP00000410763:T311N	ENSP00000411704:H276Q|ENSP00000204615:T315N	H|T	-|-	3|2	2|0	THPO|THPO	185573113|185573113	0.748000|0.748000	0.28294|0.28294	0.014000|0.014000	0.15608|0.15608	0.096000|0.096000	0.18686|0.18686	0.767000|0.767000	0.26575|0.26575	0.321000|0.321000	0.23259|0.23259	0.467000|0.467000	0.42956|0.42956	CAC|ACC	.		0.597	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		T	184090419	G	T	184090419	3	4	15	1	0	0	0	0	1	0	0	0	15919	1261	44	3	121	3	THPO	3	184090419	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	33078383	184090419	13932011	42	2015											
ATP13A5	344905	hgsc.bcm.edu;bcgsc.ca	37	3	193081945	193081945	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr3:193081945C>T	ENST00000342358.4	-	2	305	c.188G>A	c.(187-189)tGc>tAc	p.C63Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	63						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)		GCATGGGATGCAGTTGGCCCA	0.522																																					p.C63Y		.											.	.	.	0			c.G188A						.						171	162	165					3																	193081945		2203	4300	6503	SO:0001583	missense	344905	exon2			GGGATGCAGTTGG	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.188G>A	3.37:g.193081945C>T	ENSP00000341942:p.Cys63Tyr	31	0		57	4	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564381	0.45694	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.22539	1.95;1.95	5.5	5.5	0.81552	.	0.085538	0.51477	D	0.000087	T	0.40862	0.1134	M	0.67569	2.06	0.38502	D	0.948269	D	0.89917	1.0	D	0.97110	1.0	T	0.26189	-1.0110	10	0.05351	T	0.99	-12.2749	17.2713	0.87103	0.0:1.0:0.0:0.0	.	63	Q4VNC0	AT135_HUMAN	Y	63;85	ENSP00000341942:C63Y;ENSP00000389416:C85Y	ENSP00000341942:C63Y	C	-	2	0	ATP13A5	194564639	0.996000	0.38824	0.137000	0.22149	0.077000	0.17291	5.054000	0.64275	2.765000	0.95021	0.650000	0.86243	TGC	.		0.522	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		T	193081945	C	T	193081945	3	4	15	1	0	0	0	0	1	0	0	0	1128	710	25	3	3582	3	ATP13A5	3	193081945	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	8991526	193081945	4940485	43	2016											
TLR1	7096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	38798332	38798332	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:38798332G>C	ENST00000502213.2	-	3	2350	c.2121C>G	c.(2119-2121)tgC>tgG	p.C707W	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.C707W			Q15399	TLR1_HUMAN	toll-like receptor 1	707	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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)	p.C707C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GTTCATAATGGCACCATTCAC	0.418																																					p.C707W	GBM(5;216 373 40795 46382)	.											TLR1,NS,carcinoma,0,1	TLR1	0	1	Substitution - coding silent(1)	lung(1)	c.C2121G						.						173	167	169					4																	38798332		2203	4300	6503	SO:0001583	missense	7096	exon4			ATAATGGCACCAT	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.2121C>G	4.37:g.38798332G>C	ENSP00000421259:p.Cys707Trp	56	0		99	34	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775283	0.49786	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.03801	3.8;3.8	5.2	2.5	0.30297	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000001	T	0.30103	0.0754	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20940	-1.0260	10	0.87932	D	0	.	10.0152	0.42010	0.3029:0.0:0.6971:0.0	.	707	Q15399	TLR1_HUMAN	W	707	ENSP00000354932:C707W;ENSP00000421259:C707W	ENSP00000354932:C707W	C	-	3	2	TLR1	38474727	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.885000	0.28227	0.285000	0.22329	0.563000	0.77884	TGC	.		0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			C	38798332	G	C	38798332	3	2	15	1	0	0	0	0	1	0	0	0	15996	1195	42	5	243	5	TLR1	4	38798332	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		38798332	152355944	44	2017											
WDFY3	23001	hgsc.bcm.edu	37	4	85716106	85716106	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:85716106G>T	ENST00000295888.4	-	20	3601	c.3194C>A	c.(3193-3195)cCt>cAt	p.P1065H	WDFY3_ENST00000322366.6_Missense_Mutation_p.P1065H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1065					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGCATTATGAGGGGCCAAACT	0.393																																					p.P1065H		.											.	.	.	0			c.C3194A						.						70	68	69					4																	85716106		2203	4300	6503	SO:0001583	missense	23001	exon20			TTATGAGGGGCCA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3194C>A	4.37:g.85716106G>T	ENSP00000295888:p.Pro1065His	59	0		86	4	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630317	0.87660	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.60920	0.15;0.15	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.78763	-0.2077	10	0.87932	D	0	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	1065	Q8IZQ1	WDFY3_HUMAN	H	1065	ENSP00000318466:P1065H;ENSP00000295888:P1065H	ENSP00000295888:P1065H	P	-	2	0	WDFY3	85935130	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.420000	0.97426	2.717000	0.92951	0.655000	0.94253	CCT	.		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85716106	G	T	85716106	3	4	15	1	0	0	0	0	1	0	0	0	17319	1000	35	3	7582	3	WDFY3	4	85716106	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	46917774	85716106	105438170	45	2018											
IBSP	3381	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	88732730	88732732	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:88732730_88732732delGGA	ENST00000226284.5	+	7	689_691	c.622_624delGGA	c.(622-624)ggadel	p.G208del		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	208					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAGTGTCACTGGAGCCAATGCAG	0.547																																					p.207_208del		.											IBSP,NS,carcinoma,0,1	IBSP	0	0			c.621_623del						.																																			SO:0001651	inframe_deletion	3381	exon7			GTCACTGGAGCCA		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.622_624delGGA	4.37:g.88732730_88732732delGGA	ENSP00000226284:p.Gly208del	39	0		54	18	NM_004967		In_Frame_Del	DEL	ENST00000226284.5	37	CCDS3624.1																																																																																			.		0.547	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			-	88732732	GGA	-	88732730	7	5	15	1	0	1	0	1	0	0	0	0	7502	1349	47	0	644	0	IBSP	4	88732730	In_Frame_Del	DEL	GGA	TCGA-W5-AA2U-01A-11D-A417-09	3016624	88732730	102421546	46	2019											
KIAA0922	23240	hgsc.bcm.edu	37	4	154525248	154525248	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:154525248G>T	ENST00000409663.3	+	25	3133	c.3081G>T	c.(3079-3081)gaG>gaT	p.E1027D	KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1028D|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E944D	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1027						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)				CCATGCGTGAGAACTGGATCA	0.468																																					p.E1028D		.											KIAA0922_ENST00000409959,NS,carcinoma,0,2	KIAA0922_ENST00000409959	0	0			c.G3084T						.						78	78	78					4																	154525248		2203	4300	6503	SO:0001583	missense	23240	exon25			GCGTGAGAACTGG	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.3081G>T	4.37:g.154525248G>T	ENSP00000386574:p.Glu1027Asp	38	0		46	2	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951597	0.34471	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21191	2.3;2.02;2.3;2.02	5.86	1.89	0.25635	.	0.578481	0.20355	N	0.093969	T	0.38374	0.1038	L	0.56769	1.78	0.28138	N	0.929917	D;D;D	0.76494	0.999;0.993;0.995	D;P;P	0.79784	0.993;0.897;0.826	T	0.16276	-1.0408	10	0.41790	T	0.15	-14.2551	11.5339	0.50626	0.0677:0.4962:0.4361:0.0	.	944;1028;1027	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	D	1027;944;1028;805	ENSP00000386574:E1027D;ENSP00000409663:E944D;ENSP00000386787:E1028D;ENSP00000240487:E805D	ENSP00000240487:E805D	E	+	3	2	KIAA0922	154744698	1.000000	0.71417	0.852000	0.33557	0.459000	0.32528	2.079000	0.41577	0.328000	0.23435	0.655000	0.94253	GAG	.		0.468	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		T	154525248	G	T	154525248	3	4	15	1	0	0	0	0	1	0	0	0	8228	933	33	3	3182	3	KIAA0922	4	154525248	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	65792518	154525248	36629028	47	2020											
MAP9	79884	hgsc.bcm.edu	37	4	156281387	156281387	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:156281387G>T	ENST00000311277.4	-	7	1246	c.983C>A	c.(982-984)aCa>aAa	p.T328K	MAP9_ENST00000515654.1_Missense_Mutation_p.T304K|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000594666.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	328					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.T328K(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)		TGGATCAACTGTTCTGTCATC	0.368																																					p.T328K		.											MAP9,NS,carcinoma,0,1	MAP9	0	1	Substitution - Missense(1)	lung(1)	c.C983A						.						153	141	145					4																	156281387		2203	4300	6503	SO:0001583	missense	79884	exon7			TCAACTGTTCTGT	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.983C>A	4.37:g.156281387G>T	ENSP00000310593:p.Thr328Lys	67	0		75	3	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305786	0.40795	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.30981	2.27;2.17;1.51	4.77	3.84	0.44239	.	0.516808	0.17659	N	0.166401	T	0.35158	0.0922	L	0.42245	1.32	0.20638	N	0.99988	B;D;D	0.59357	0.009;0.985;0.985	B;P;P	0.54270	0.023;0.747;0.747	T	0.06807	-1.0806	10	0.32370	T	0.25	-9.8757	9.5276	0.39173	0.0:0.0:0.7902:0.2098	.	303;328;328	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	K	328;304;327;328	ENSP00000310593:T328K;ENSP00000427402:T304K;ENSP00000394048:T327K	ENSP00000310593:T328K	T	-	2	0	MAP9	156500837	0.006000	0.16342	0.007000	0.13788	0.009000	0.06853	1.684000	0.37649	2.565000	0.86533	0.591000	0.81541	ACA	.		0.368	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		T	156281387	G	T	156281387	3	4	15	1	0	0	0	0	1	0	0	0	9308	1377	48	3	992	3	MAP9	4	156281387	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	1756139	156281387	34872889	48	2021											
GUCY1A3	2982	hgsc.bcm.edu	37	4	156632290	156632290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:156632290G>T	ENST00000296518.7	+	6	1182	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.E67*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.E325*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.E325*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.E325*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.E325*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.E325*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	325					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)	p.E325K(1)		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)		AGAATACTTTGAAATTCTGAC	0.393																																					p.E325X		.											GUCY1A3,scalp,carcinoma,0,1	GUCY1A3	0	1	Substitution - Missense(1)	skin(1)	c.G973T						.						69	72	71					4																	156632290		2203	4300	6503	SO:0001587	stop_gained	2982	exon6			TACTTTGAAATTC		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.973G>T	4.37:g.156632290G>T	ENSP00000296518:p.Glu325*	42	0		50	2	NM_001130687	D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	40	8.158619	0.98683	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.76	5.76	0.90799	.	0.084050	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	20.3219	0.98684	0.0:0.0:1.0:0.0	.	.	.	.	X	325;325;325;325;67;325;325	.	ENSP00000296518:E325X	E	+	1	0	GUCY1A3	156851740	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.148000	0.58085	2.876000	0.98609	0.643000	0.83706	GAA	.		0.393	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			T	156632290	G	T	156632290	4	4	15	1	0	0	0	0	0	1	0	0	6921	1291	45	3	987	3	GUCY1A3	4	156632290	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	350903	156632290	34521986	49	2022											
GLRA3	8001	hgsc.bcm.edu	37	4	175580272	175580272	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:175580272G>A	ENST00000274093.3	-	8	1506	c.1004C>T	c.(1003-1005)gCa>gTa	p.A335V	GLRA3_ENST00000340217.5_Missense_Mutation_p.A335V	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	335					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)	ATTTACAGCTGCATACTCCAG	0.373																																					p.A335V		.											GLRA3,colon,carcinoma,0,1	GLRA3	0	0			c.C1004T						.						123	115	118					4																	175580272		2203	4300	6503	SO:0001583	missense	8001	exon8			ACAGCTGCATACT	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.1004C>T	4.37:g.175580272G>A	ENSP00000274093:p.Ala335Val	34	0		38	2	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	36	5.673262	0.96754	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.89939	-2.59;-2.59	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92286	0.7553	L	0.58969	1.84	0.80722	D	1	P;P	0.44877	0.814;0.845	P;P	0.54924	0.652;0.764	D	0.92872	0.6315	10	0.87932	D	0	.	19.0501	0.93039	0.0:0.0:1.0:0.0	.	335;335	O75311-2;O75311	.;GLRA3_HUMAN	V	335	ENSP00000274093:A335V;ENSP00000345284:A335V	ENSP00000274093:A335V	A	-	2	0	GLRA3	175816847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.523000	0.85059	0.650000	0.86243	GCA	.		0.373	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			A	175580272	G	A	175580272	3	1	15	1	0	0	0	0	1	0	0	0	6482	1319	46	3	402	3	GLRA3	4	175580272	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	18947982	175580272	15574004	50	2023											
SNX25	83891	bcgsc.ca	37	4	186185626	186185626	+	Missense_Mutation	SNP	G	G	A	rs529369855		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr4:186185626G>A	ENST00000504273.1	+	4	568	c.274G>A	c.(274-276)Gca>Aca	p.A92T	SNX25_ENST00000264694.8_Missense_Mutation_p.A92T			Q9H3E2	SNX25_HUMAN	sorting nexin 25	92	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGTGTTGCACGCATGCTTGAG	0.398																																					p.A92T													.	SNX25	100	0			c.G274A						.						166	153	158					4																	186185626		2203	4300	6503	SO:0001583	missense	83891	exon4			TTGCACGCATGCT	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.274G>A	4.37:g.186185626G>A	ENSP00000426255:p.Ala92Thr	45	0		121	5	NM_031953	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703845	0.30232	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.09723	2.95;2.95	5.27	-1.78	0.07957	Phox-associated domain (2);	0.647857	0.15679	N	0.250006	T	0.04679	0.0127	N	0.22421	0.69	0.21950	N	0.999451	B	0.06786	0.001	B	0.06405	0.002	T	0.37842	-0.9688	10	0.23891	T	0.37	0.1488	0.115	0.00060	0.339:0.1937:0.1919:0.2754	.	92	Q9H3E2	SNX25_HUMAN	T	92	ENSP00000426255:A92T;ENSP00000264694:A92T	ENSP00000264694:A92T	A	+	1	0	SNX25	186422620	0.055000	0.20627	0.045000	0.18777	0.972000	0.66771	0.089000	0.15002	-0.674000	0.05253	-0.126000	0.14955	GCA	.		0.398	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		A	186185626	G	A	186185626	3	1	15	1	0	0	0	0	1	0	0	0	14941	1087	38	1	284	1	SNX25	4	186185626	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	10605354	186185626	4968650	51	2024											
IRX1	79192	hgsc.bcm.edu	37	5	3599509	3599509	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:3599509C>T	ENST00000302006.3	+	2	499	c.447C>T	c.(445-447)caC>caT	p.H149H	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	149					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCAACGAGCACCGCAAGAATC	0.632																																					p.H149H		.											.,1	.	106	0			c.C447T						.						141	112	122					5																	3599509		2203	4300	6503	SO:0001819	synonymous_variant	79192	exon2			CGAGCACCGCAAG	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.447C>T	5.37:g.3599509C>T		44	0		39	2	NM_024337	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	CCDS34132.1																																																																																			.		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		T	3599509	C	T	3599509	2	4	15	1	0	0	0	0	0	0	0	1	7870	506	18	3		3	IRX1	5	3599509	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09		3599509	177315751	52	2025											
ELOVL7	79993	bcgsc.ca	37	5	60067809	60067809	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:60067809C>T	ENST00000508821.1	-	4	490	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ELOVL7_ENST00000438340.1_Missense_Mutation_p.R59H|ELOVL7_ENST00000505959.1_Missense_Mutation_p.R46H|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R59H	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	59					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AAAGGGCTTGCGATTTTCCAT	0.413																																					p.R59H													ELOVL7,NS,lymphoid_neoplasm,0,1	ELOVL7	24	0			c.G176A						.						84	79	81					5																	60067809		2203	4300	6503	SO:0001583	missense	79993	exon3			GGCTTGCGATTTT	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.176G>A	5.37:g.60067809C>T	ENSP00000424123:p.Arg59His	42	0		58	4	NM_001104558	Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701681	0.88924	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.73	5.73	0.89815	.	0.059805	0.64402	D	0.000004	T	0.51907	0.1702	M	0.93978	3.48	0.80722	D	1	P;D	0.59357	0.907;0.985	P;P	0.52159	0.477;0.691	T	0.63778	-0.6560	10	0.66056	D	0.02	-6.6369	13.9375	0.64034	0.0:0.9216:0.0:0.0784	.	46;59	D6RHD0;A1L3X0	.;ELOV7_HUMAN	H	59;59;59;46;59;59	ENSP00000424123:R59H;ENSP00000411255:R59H;ENSP00000402634:R59H;ENSP00000421043:R46H;ENSP00000426400:R59H;ENSP00000424081:R59H	ENSP00000402634:R59H	R	-	2	0	ELOVL7	60103566	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.726000	0.68515	2.868000	0.98415	0.557000	0.71058	CGC	.		0.413	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			T	60067809	C	T	60067809	3	4	15	1	0	0	0	0	1	0	0	0	5095	768	27	1	693	1	ELOVL7	5	60067809	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	56468300	60067809	120847451	53	2026											
MAST4	375449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	66391445	66391445	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:66391445C>G	ENST00000403625.2	+	7	1149	c.854C>G	c.(853-855)tCg>tGg	p.S285W	MAST4_ENST00000405643.1_Missense_Mutation_p.S106W|MAST4_ENST00000403666.1_Missense_Mutation_p.S96W|MAST4_ENST00000404260.3_Missense_Mutation_p.S288W|MAST4_ENST00000490016.2_Missense_Mutation_p.S96W|MAST4_ENST00000261569.7_Missense_Mutation_p.S91W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	288						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)		CGCCGCTGGTCGTTGGCTTCT	0.473																																					p.S285W		.											.	.	.	0			c.C854G						.						81	87	85					5																	66391445		1975	4165	6140	SO:0001583	missense	375449	exon7			GCTGGTCGTTGGC	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.854C>G	5.37:g.66391445C>G	ENSP00000385727:p.Ser285Trp	44	0		75	33	NM_001164664	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732024	0.89390	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	6.04	6.04	0.98038	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.50627	U	0.000113	T	0.75148	0.3810	M	0.92459	3.31	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;0.999	T	0.79820	-0.1642	10	0.87932	D	0	-11.1109	20.5948	0.99439	0.0:1.0:0.0:0.0	.	106;288;91;96;96	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	W	288;285;96;96;106;106;91;91;91	ENSP00000385048:S288W;ENSP00000385727:S285W;ENSP00000421739:S96W;ENSP00000384313:S96W;ENSP00000384099:S106W;ENSP00000261569:S91W;ENSP00000392478:S91W	ENSP00000261569:S91W	S	+	2	0	MAST4	66427201	1.000000	0.71417	0.970000	0.41538	0.930000	0.56654	7.487000	0.81328	2.873000	0.98535	0.563000	0.77884	TCG	.		0.473	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			G	66391445	C	G	66391445	3	3	15	1	0	0	0	0	1	0	0	0	9365	893	31	5	1010	5	MAST4	5	66391445	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	6323636	66391445	114523815	54	2027											
MAP1B	4131	hgsc.bcm.edu	37	5	71491850	71491850	+	Nonsense_Mutation	SNP	G	G	T	rs139604402		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:71491850G>T	ENST00000296755.7	+	5	2966	c.2668G>T	c.(2668-2670)Gag>Tag	p.E890*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	890					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)		AGGTCCTGCCGAGTCCCCTGA	0.542																																					p.E890X	Melanoma(17;367 822 11631 31730 47712)	.											.	.	.	0			c.G2668T						.						106	109	108					5																	71491850		2203	4300	6503	SO:0001587	stop_gained	4131	exon5			CCTGCCGAGTCCC	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.2668G>T	5.37:g.71491850G>T	ENSP00000296755:p.Glu890*	34	0		42	3	NM_005909	A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	43	9.974874	0.99308	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.44	5.44	0.79542	.	0.187730	0.37761	N	0.001952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.0008	19.2467	0.93905	0.0:0.0:1.0:0.0	.	.	.	.	X	890	.	ENSP00000296755:E890X	E	+	1	0	MAP1B	71527606	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.012000	0.88631	2.557000	0.86248	0.591000	0.81541	GAG	.		0.542	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71491850	G	T	71491850	4	4	15	1	0	0	0	0	0	1	0	0	9266	1059	37	2	2686	2	MAP1B	5	71491850	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	5100405	71491850	109423410	55	2028											
FAM169A	26049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	74091907	74091907	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:74091907G>T	ENST00000389156.4	-	11	1298	c.1208C>A	c.(1207-1209)gCa>gAa	p.A403E	FAM169A_ENST00000510496.1_Missense_Mutation_p.A343E|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	403	Asp/Glu-rich.					membrane (GO:0016020)|nucleus (GO:0005634)		p.A403E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TGCTGGCCGTGCATCTCTATC	0.428																																					p.A403E		.											FAM169A,NS,carcinoma,0,1	FAM169A	0	1	Substitution - Missense(1)	lung(1)	c.C1208A						.						216	205	209					5																	74091907		1975	4164	6139	SO:0001583	missense	26049	exon11			GGCCGTGCATCTC		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1208C>A	5.37:g.74091907G>T	ENSP00000373808:p.Ala403Glu	30	0		36	15	NM_015566	A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.038663	0.02013	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.42131	0.98	4.53	2.7	0.31948	.	0.608195	0.14472	N	0.317481	T	0.24005	0.0581	L	0.27053	0.805	0.09310	N	1	B;B	0.26809	0.082;0.16	B;B	0.24394	0.053;0.037	T	0.20273	-1.0280	10	0.11794	T	0.64	-2.8569	6.1873	0.20503	0.2335:0.0:0.7665:0.0	.	343;403	D6RB01;Q9Y6X4	.;F169A_HUMAN	E	403;343	ENSP00000373808:A403E	ENSP00000373808:A403E	A	-	2	0	FAM169A	74127663	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	0.308000	0.19314	0.804000	0.34136	0.655000	0.94253	GCA	.		0.428	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			T	74091907	G	T	74091907	3	4	15	1	0	0	0	0	1	0	0	0	5506	1319	46	3	816	3	FAM169A	5	74091907	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2600057	74091907	106823353	56	2029											
IQGAP2	10788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	75969392	75969392	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:75969392A>T	ENST00000274364.6	+	25	3484	c.3187A>T	c.(3187-3189)Att>Ttt	p.I1063F	IQGAP2_ENST00000502745.1_Missense_Mutation_p.I559F|IQGAP2_ENST00000396234.3_Missense_Mutation_p.I559F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.I565F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1063	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAATTCTATCATTTCTTCCCT	0.418																																					p.I1063F		.											.	.	.	0			c.A3187T						.						149	143	145					5																	75969392		2203	4300	6503	SO:0001583	missense	10788	exon25			TCTATCATTTCTT	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3187A>T	5.37:g.75969392A>T	ENSP00000274364:p.Ile1063Phe	44	0		60	20	NM_006633	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233987	0.39498	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.75	1.73	0.24493	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.236165	0.45867	D	0.000332	T	0.63663	0.2530	L	0.41824	1.3	0.37601	D	0.920558	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15052	0.008;0.012;0.005	T	0.56709	-0.7934	10	0.45353	T	0.12	-8.0325	4.0953	0.09988	0.4955:0.0:0.1823:0.3222	.	565;559;1063	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	F	1063;565;1013;559;559	ENSP00000274364:I1063F;ENSP00000442313:I565F;ENSP00000421097:I1013F;ENSP00000379535:I559F;ENSP00000426027:I559F	ENSP00000274364:I1063F	I	+	1	0	IQGAP2	76005148	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.481000	0.35476	0.423000	0.26033	0.482000	0.46254	ATT	.		0.418	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75969392	A	T	75969392	3	4	15	1	0	0	0	0	1	0	0	0	7842	217	8	5	3285	5	IQGAP2	5	75969392	Missense_Mutation	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	1877485	75969392	104945868	57	2030											
RIOK2	55781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	96503500	96503500	+	Silent	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:96503500C>A	ENST00000283109.3	-	8	1136	c.1068G>T	c.(1066-1068)cgG>cgT	p.R356R	RIOK2_ENST00000508447.1_Silent_p.R356R|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	356	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTAGACAGTTCCGTTCACTTT	0.403																																					p.R356R		.											.	.	.	0			c.G1068T						.						139	137	138					5																	96503500		2203	4300	6503	SO:0001819	synonymous_variant	55781	exon8			ACAGTTCCGTTCA	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1068G>T	5.37:g.96503500C>A		31	0		35	17	NM_001159749	D6RDI3|Q9NUT0	Silent	SNP	ENST00000283109.3	37	CCDS4089.1																																																																																			.		0.403	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		A	96503500	C	A	96503500	2	1	15	1	0	0	0	0	0	0	0	1	13423	842	30	3		3	RIOK2	5	96503500	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	20534108	96503500	84411760	58	2031											
SRA1	8637	hgsc.bcm.edu	37	5	139931630	139931630	+	IGR	SNP	A	A	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:139931630A>T	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Silent_p.A109A	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCATCACAGCCTCAGACT	0.597																																					p.A109A		.											.,1	.	24	0			c.T327A						.						83	61	68					5																	139931630		2202	4298	6500	SO:0001628	intergenic_variant	10011	exon3			CATCACAGCCTCA	AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931630A>T		23	0		97	3	NM_001035235		Silent	SNP	ENST00000310331.2	37	CCDS4226.1																																																																																			.		0.597	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		T	139931630	A	T	139931630	1	4	15	0	1	0	0	0	0	0	0	0	15179	175	7	5		5	SRA1	5	139931630	IGR	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	43428130	139931630	40983630	59	2032											
PCDHA11	56138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140250727	140250727	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:140250727G>A	ENST00000398640.2	+	1	2039	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCTTCCCGGACTTTGGCG	0.652																																					p.R680Q		.											.	.	.	0			c.G2039A						.						29	35	33					5																	140250727		2197	4296	6493	SO:0001583	missense	56138	exon1			CTTCCCGGACTTT	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.2039G>A	5.37:g.140250727G>A	ENSP00000381636:p.Arg680Gln	38	0		114	27	NM_018902	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839885	0.32513	.	.	ENSG00000249158	ENST00000398640	T	0.51325	0.71	4.42	1.53	0.23141	.	.	.	.	.	T	0.35595	0.0937	L	0.48642	1.525	0.09310	N	1	B;B	0.27286	0.174;0.064	B;B	0.24269	0.052;0.011	T	0.21759	-1.0236	9	0.22109	T	0.4	.	6.9412	0.24494	0.1814:0.4399:0.3787:0.0	.	680;680	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Q	680	ENSP00000381636:R680Q	ENSP00000381636:R680Q	R	+	2	0	PCDHA11	140230911	0.000000	0.05858	0.015000	0.15790	0.009000	0.06853	0.688000	0.25422	0.068000	0.16574	0.655000	0.94253	CGG	.		0.652	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140250727	G	A	140250727	3	1	15	1	0	0	0	0	1	0	0	0	11560	1116	39	1	2041	1	PCDHA11	5	140250727	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	319097	140250727	40664533	60	2033											
FAT2	2196	broad.mit.edu;ucsc.edu	37	5	150948137	150948137	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr5:150948137A>G	ENST00000261800.5	-	1	368	c.356T>C	c.(355-357)aTc>aCc	p.I119T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	119	Cadherin 1. {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)			TGTGGCTTGGATGATGAGGGT	0.517																																					p.I119T													.	FAT2	465	0			c.T356C						.						121	119	120					5																	150948137		2203	4300	6503	SO:0001583	missense	2196	exon1			GCTTGGATGATGA	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.356T>C	5.37:g.150948137A>G	ENSP00000261800:p.Ile119Thr	21	5		40	11	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994409	0.54041	.	.	ENSG00000086570	ENST00000261800	T	0.66638	-0.22	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.541443	0.18142	N	0.150374	T	0.73048	0.3537	M	0.91663	3.23	0.43527	D	0.995803	B	0.32245	0.361	B	0.24541	0.054	T	0.77466	-0.2577	10	0.87932	D	0	.	15.5309	0.75960	1.0:0.0:0.0:0.0	.	119	Q9NYQ8	FAT2_HUMAN	T	119	ENSP00000261800:I119T	ENSP00000261800:I119T	I	-	2	0	FAT2	150928330	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	9.262000	0.95591	2.065000	0.61736	0.454000	0.30748	ATC	.		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150948137	A	G	150948137	3	3	15	1	0	0	0	0	1	0	0	0	5712	333	12	4	12785	4	FAT2	5	150948137	Missense_Mutation	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	10697410	150948137	29967123	61	2034											
GMPR	2766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	16290801	16290801	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:16290801T>A	ENST00000259727.4	+	8	920	c.806T>A	c.(805-807)aTg>aAg	p.M269K	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	269	GMP binding.				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)				TTCTACGGGATGAGCTCTGAC	0.567																																					p.M269K		.											.	.	.	0			c.T806A						.						167	150	155					6																	16290801		2203	4300	6503	SO:0001583	missense	2766	exon8			ACGGGATGAGCTC		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.806T>A	6.37:g.16290801T>A	ENSP00000259727:p.Met269Lys	34	0		45	16	NM_006877	Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561809	0.65538	.	.	ENSG00000137198	ENST00000259727	D	0.81908	-1.55	5.4	5.4	0.78164	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.075806	0.85682	D	0.000000	D	0.95066	0.8402	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97442	1.0022	10	0.87932	D	0	-8.4891	15.4288	0.75075	0.0:0.0:0.0:1.0	.	269	P36959	GMPR1_HUMAN	K	269	ENSP00000259727:M269K	ENSP00000259727:M269K	M	+	2	0	GMPR	16398780	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	8.036000	0.88901	2.027000	0.59764	0.533000	0.62120	ATG	.		0.567	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			A	16290801	T	A	16290801	3	1	15	1	0	0	0	0	1	0	0	0	6522	1464	51	5	836	5	GMPR	6	16290801	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09		16290801	154824266	62	2035											
OR2J3	442186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	29080455	29080455	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:29080455T>G	ENST00000377169.1	+	1	788	c.788T>G	c.(787-789)cTc>cGc	p.L263R		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	263						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						TGCATGTATCTCCAGCCACCA	0.448																																					p.L263R		.											.	.	.	0			c.T788G						.						111	111	111					6																	29080455		1251	2555	3806	SO:0001583	missense	442186	exon1			TGTATCTCCAGCC		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.788T>G	6.37:g.29080455T>G	ENSP00000366374:p.Leu263Arg	25	0		27	12	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.280454	0.23392	.	.	ENSG00000204701	ENST00000377169	T	0.44083	0.93	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61451	0.2348	H	0.94698	3.57	0.19945	N	0.999941	D	0.89917	1.0	D	0.91635	0.999	T	0.53408	-0.8443	9	0.87932	D	0	.	9.3572	0.38173	0.0:0.0:0.0:1.0	.	263	O76001	OR2J3_HUMAN	R	263	ENSP00000366374:L263R	ENSP00000366374:L263R	L	+	2	0	OR2J3	29188434	0.000000	0.05858	0.972000	0.41901	0.258000	0.26162	-0.035000	0.12205	1.268000	0.44264	0.358000	0.22013	CTC	.		0.448	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			G	29080455	T	G	29080455	3	3	15	1	0	0	0	0	1	0	0	0	11043	1551	54	4	790	4	OR2J3	6	29080455	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	12789654	29080455	142034612	63	2036											
DDR1	780	hgsc.bcm.edu	37	6	30858814	30858814	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:30858814C>T	ENST00000324771.8	+	7	1030	c.482C>T	c.(481-483)gCc>gTc	p.A161V	DDR1_ENST00000446312.1_Missense_Mutation_p.A161V|DDR1_ENST00000513240.1_Missense_Mutation_p.A161V|DDR1_ENST00000508472.1_3'UTR|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.A161V|DDR1_ENST00000418800.2_Missense_Mutation_p.A161V|DDR1_ENST00000376567.2_Missense_Mutation_p.A161V|DDR1_ENST00000376570.4_Missense_Mutation_p.A161V|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376569.3_Missense_Mutation_p.A161V|DDR1_ENST00000454612.2_Missense_Mutation_p.A161V|DDR1_ENST00000452441.1_Missense_Mutation_p.A161V|DDR1_ENST00000508312.1_Missense_Mutation_p.A179V|DDR1_ENST00000376568.3_Missense_Mutation_p.A161V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	161	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)	CCCATGGTTGCCCGACTGGTT	0.637																																					p.A179V		.											.	.	.	0			c.C536T						.						63	64	64					6																	30858814		1510	2709	4219	SO:0001583	missense	780	exon5			TGGTTGCCCGACT	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.482C>T	6.37:g.30858814C>T	ENSP00000318217:p.Ala161Val	39	0		62	4	NM_001202523	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094521	0.94149	.	.	ENSG00000204580	ENST00000460944;ENST00000324771;ENST00000418800;ENST00000454612;ENST00000512694;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000515219;ENST00000508312;ENST00000421124;ENST00000503495;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99732	-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57	4.81	4.81	0.61882	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.93;0.958;0.973;0.973;0.998	D	0.97518	1.0071	10	0.87932	D	0	.	15.4086	0.74900	0.0:1.0:0.0:0.0	.	161;187;179;161;161	Q08345-4;B7Z3A2;B7Z2K0;Q08345-5;Q08345	.;.;.;.;DDR1_HUMAN	V	161;161;161;161;161;161;161;161;161;161;161;161;3;179;161;187;161;161	ENSP00000426420:A161V;ENSP00000318217:A161V;ENSP00000407699:A161V;ENSP00000406091:A161V;ENSP00000426229:A161V;ENSP00000365753:A161V;ENSP00000365759:A161V;ENSP00000365754:A161V;ENSP00000405998:A161V;ENSP00000390593:A161V;ENSP00000365752:A161V;ENSP00000405039:A161V;ENSP00000421152:A3V;ENSP00000422442:A179V;ENSP00000409682:A161V;ENSP00000423749:A187V;ENSP00000365751:A161V;ENSP00000427552:A161V	ENSP00000318217:A161V	A	+	2	0	DDR1	30966793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.544000	0.67231	2.502000	0.84385	0.467000	0.42956	GCC	.		0.637	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		T	30858814	C	T	30858814	3	4	15	1	0	0	0	0	1	0	0	0	4345	739	26	3	496	3	DDR1	6	30858814	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	1778359	30858814	140256253	64	2037											
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	65300622	65300622	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:65300622G>A	ENST00000370621.3	-	26	5664	c.5138C>T	c.(5137-5139)cCc>cTc	p.P1713L	EYS_ENST00000370616.2_Missense_Mutation_p.P1713L|EYS_ENST00000503581.1_Missense_Mutation_p.P1713L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1713					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						TACCTCAGTGGGTCCCATAGT	0.333																																					p.P1713L		.											.	.	.	0			c.C5138T						.						26	23	24					6																	65300622		692	1590	2282	SO:0001583	missense	346007	exon26			TCAGTGGGTCCCA		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.5138C>T	6.37:g.65300622G>A	ENSP00000359655:p.Pro1713Leu	38	0		68	25	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		.	.	.	.	.	.	.	.	.	.	G	10.52	1.373242	0.24857	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84800	-1.9;-1.87;-1.87	6.08	0.178	0.15058	.	.	.	.	.	T	0.46288	0.1385	N	0.08118	0	0.09310	N	1	B;B	0.17852	0.024;0.007	B;B	0.17979	0.02;0.005	T	0.40887	-0.9539	9	0.66056	D	0.02	.	1.5685	0.02609	0.3224:0.1403:0.3954:0.1419	.	1713;1713	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	L	1713	ENSP00000424243:P1713L;ENSP00000359655:P1713L;ENSP00000359650:P1713L	ENSP00000359650:P1713L	P	-	2	0	EYS	65357343	0.000000	0.05858	0.005000	0.12908	0.180000	0.23129	0.642000	0.24735	0.080000	0.16959	0.591000	0.81541	CCC	.		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	65300622	G	A	65300622	3	1	15	1	0	0	0	0	1	0	0	0	5348	1232	43	3	4213	3	EYS	6	65300622	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	34441808	65300622	105814445	65	2038											
RIMS1	22999	hgsc.bcm.edu	37	6	72892048	72892048	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:72892048C>T	ENST00000521978.1	+	6	874	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	RIMS1_ENST00000264839.7_Missense_Mutation_p.R292C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R292C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R292C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R292C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R292C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R292C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R292C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	292					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)				CGAGCGGAAACGCGTGCCAAA	0.552																																					p.R292C		.											RIMS1,colon,carcinoma,0,1	RIMS1	0	0			c.C874T						.						35	41	39					6																	72892048		1889	4119	6008	SO:0001583	missense	22999	exon6			CGGAAACGCGTGC	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.874C>T	6.37:g.72892048C>T	ENSP00000428417:p.Arg292Cys	35	0		38	2	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	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720460	0.68959	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.17213	2.29;2.43;2.34;2.43;2.43;2.43;2.43;2.35	5.28	4.41	0.53225	.	0.000000	0.56097	D	0.000025	T	0.20088	0.0483	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	P	0.58873	0.847	T	0.01920	-1.1247	10	0.87932	D	0	-5.9565	8.7448	0.34580	0.1497:0.7743:0.0:0.0759	.	292	Q86UR5	RIMS1_HUMAN	C	292	ENSP00000430101:R292C;ENSP00000275037:R292C;ENSP00000264839:R292C;ENSP00000429959:R292C;ENSP00000430408:R292C;ENSP00000430502:R292C;ENSP00000430932:R292C;ENSP00000428417:R292C	ENSP00000264839:R292C	R	+	1	0	RIMS1	72948769	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	5.383000	0.66219	1.238000	0.43771	0.462000	0.41574	CGC	.		0.552	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			T	72892048	C	T	72892048	3	4	15	1	0	0	0	0	1	0	0	0	13412	536	19	1	896	1	RIMS1	6	72892048	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	7591426	72892048	98223019	66	2039											
KIAA1009	22832	broad.mit.edu	37	6	84894963	84894963	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:84894963G>T	ENST00000403245.3	-	13	1719	c.1605C>A	c.(1603-1605)gaC>gaA	p.D535E	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D459E	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)		TTTTTATAATGTCCTCTGAAG	0.353																																					p.D535E													.	KIAA1009	119	0			c.C1605A						.						100	97	98					6																	84894963		2203	4300	6503	SO:0001583	missense	22832	exon13			TATAATGTCCTCT																												ENST00000403245.3:c.1605C>A	6.37:g.84894963G>T	ENSP00000385215:p.Asp535Glu	94	0		61	3	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.529084	0.00951	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.14893	2.47;2.47	5.34	-1.36	0.09085	.	0.161303	0.43416	D	0.000574	T	0.03305	0.0096	L	0.50333	1.59	0.09310	N	0.999999	B;P	0.35155	0.037;0.487	B;B	0.34779	0.039;0.189	T	0.46707	-0.9172	10	0.09590	T	0.72	-17.7728	5.9246	0.19101	0.566:0.0:0.2986:0.1354	.	535;535	Q5TB80;C9JFM9	QN1_HUMAN;.	E	459;535	ENSP00000257766:D459E;ENSP00000385215:D535E	ENSP00000257766:D459E	D	-	3	2	KIAA1009	84951682	0.000000	0.05858	0.018000	0.16275	0.002000	0.02628	-0.732000	0.04904	-0.522000	0.06417	-0.377000	0.06932	GAC	.		0.353	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			T	84894963	G	T	84894963	3	4	15	1	0	0	0	0	1	0	0	0	8230	1368	48	3	2666	3	KIAA1009	6	84894963	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	12002915	84894963	86220104	67	2040											
EPHA7	2045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	94068073	94068073	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:94068073G>A	ENST00000369303.4	-	4	1073	c.889C>T	c.(889-891)Cca>Tca	p.P297S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	297	Cys-rich.				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)		CTGTGAGTTGGACAACGAGAG	0.463																																					p.P297S		.											.	.	.	0			c.C889T						.						97	90	92					6																	94068073		2203	4300	6503	SO:0001583	missense	2045	exon4			GAGTTGGACAACG	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.889C>T	6.37:g.94068073G>A	ENSP00000358309:p.Pro297Ser	27	0		21	9	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154546	0.94686	.	.	ENSG00000135333	ENST00000369303	T	0.23950	1.88	5.62	5.62	0.85841	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.053444	0.85682	D	0.000000	T	0.54287	0.1849	M	0.88906	2.99	0.80722	D	1	D;P;P	0.67145	0.996;0.905;0.846	D;P;P	0.75484	0.986;0.474;0.524	T	0.62946	-0.6746	10	0.87932	D	0	.	19.6472	0.95784	0.0:0.0:1.0:0.0	.	297;297;297	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	S	297	ENSP00000358309:P297S	ENSP00000358309:P297S	P	-	1	0	EPHA7	94124794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.652000	0.90054	0.655000	0.94253	CCA	.		0.463	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			A	94068073	G	A	94068073	3	1	15	1	0	0	0	0	1	0	0	0	5188	1174	41	3	2163	3	EPHA7	6	94068073	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	9173110	94068073	77046994	68	2041											
SOBP	55084	broad.mit.edu;ucsc.edu	37	6	107827478	107827478	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr6:107827478G>T	ENST00000317357.5	+	3	927	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATTACCCGAGGACAGTGTTAT	0.388																																					p.D90Y													.	SOBP	53	0			c.G268T						.						121	116	118					6																	107827478		1847	4102	5949	SO:0001583	missense	55084	exon3			CCCGAGGACAGTG	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.268G>T	6.37:g.107827478G>T	ENSP00000318900:p.Asp90Tyr	53	1		50	5	NM_018013		Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808372	0.70797	.	.	ENSG00000112320	ENST00000317357	T	0.13196	2.61	5.02	5.02	0.67125	.	0.219560	0.46758	D	0.000265	T	0.12646	0.0307	N	0.08118	0	0.48571	D	0.999672	D	0.71674	0.998	D	0.65443	0.935	T	0.39981	-0.9587	10	0.72032	D	0.01	-15.8462	18.7119	0.91661	0.0:0.0:1.0:0.0	.	90	A7XYQ1	SOBP_HUMAN	Y	90	ENSP00000318900:D90Y	ENSP00000318900:D90Y	D	+	1	0	SOBP	107934171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.867000	0.75511	2.497000	0.84241	0.655000	0.94253	GAC	.		0.388	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		T	107827478	G	T	107827478	3	4	15	1	0	0	0	0	1	0	0	0	14957	1174	41	3	278	3	SOBP	6	107827478	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	13759405	107827478	63287589	69	2042											
HEATR2	54919	hgsc.bcm.edu	37	7	814755	814755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:814755C>A	ENST00000297440.6	+	11	2215	c.2195C>A	c.(2194-2196)tCg>tAg	p.S732*	HEATR2_ENST00000313147.5_Nonsense_Mutation_p.S732*|HEATR2_ENST00000403952.3_Nonsense_Mutation_p.S157*	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	732						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)		TTAAAAACCTCGGGCGGCATG	0.512											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S732X		.											HEATR2,NS,carcinoma,0,1	HEATR2	0	0			c.C2195A						.						116	109	111					7																	814755		2203	4300	6503	SO:0001587	stop_gained	54919	exon11			AAACCTCGGGCGG	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.2195C>A	7.37:g.814755C>A	ENSP00000297440:p.Ser732*	28	0	591	46	4	NM_017802	Q69YL1|Q96FI9|Q9NX75	Nonsense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441559	0.96187	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862;ENST00000403952	.	.	.	5.15	2.22	0.28083	.	0.444655	0.26460	N	0.024252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-10.0216	8.7596	0.34667	0.0:0.3871:0.516:0.0969	.	.	.	.	X	732;732;478;157	.	ENSP00000297440:S732X	S	+	2	0	HEATR2	781281	0.922000	0.31269	0.000000	0.03702	0.004000	0.04260	1.602000	0.36783	0.545000	0.28902	-0.254000	0.11334	TCG	.		0.512	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		A	814755	C	A	814755	4	1	15	1	0	0	0	0	0	1	0	0	7055	893	31	2	2237	2	HEATR2	7	814755	Nonsense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09		814755	158323908	70	2043											
CPVL	54504	hgsc.bcm.edu	37	7	29111505	29111505	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:29111505C>T	ENST00000409850.1	-	13	1394	c.748G>A	c.(748-750)Gca>Aca	p.A250T	CPVL_ENST00000396276.3_Missense_Mutation_p.A250T|CPVL_ENST00000265394.5_Missense_Mutation_p.A250T			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	250						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						AGGAATTCTGCATAGCCCCCT	0.418																																					p.A250T		.											.	.	.	0			c.G748A						.						115	104	108					7																	29111505		2203	4300	6503	SO:0001583	missense	54504	exon9			ATTCTGCATAGCC	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.748G>A	7.37:g.29111505C>T	ENSP00000387164:p.Ala250Thr	55	0		98	3	NM_019029	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763059	0.49574	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850;ENST00000542995;ENST00000448959	D;D;T;D;D	0.85629	-2.01;-2.01;1.44;-2.01;-2.01	5.54	3.64	0.41730	.	0.100619	0.64402	D	0.000003	D	0.89663	0.6780	M	0.69823	2.125	0.46376	D	0.999018	D	0.60575	0.988	P	0.62435	0.902	D	0.87741	0.2585	10	0.21540	T	0.41	-1.8315	15.2938	0.73888	0.0:0.6163:0.3837:0.0	.	250	Q9H3G5	CPVL_HUMAN	T	250;250;6;250;134;180	ENSP00000265394:A250T;ENSP00000379572:A250T;ENSP00000403580:A6T;ENSP00000387164:A250T;ENSP00000409036:A180T	ENSP00000265394:A250T	A	-	1	0	CPVL	29078030	0.999000	0.42202	0.971000	0.41717	0.218000	0.24690	1.399000	0.34566	1.309000	0.44985	0.591000	0.81541	GCA	.		0.418	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		T	29111505	C	T	29111505	3	4	15	1	0	0	0	0	1	0	0	0	3842	710	25	3	702	3	CPVL	7	29111505	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	28296750	29111505	130027158	71	2044											
CCDC129	223075	hgsc.bcm.edu	37	7	31617535	31617535	+	Silent	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:31617535G>T	ENST00000407970.3	+	8	695	c.657G>T	c.(655-657)ctG>ctT	p.L219L	CCDC129_ENST00000409210.1_Silent_p.L127L|CCDC129_ENST00000451887.2_Silent_p.L245L|CCDC129_ENST00000319386.3_Silent_p.L219L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	219								p.L219L(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCTCTGCTGAGTGATGTCA	0.488																																					p.L245L		.											LOC223075,NS,carcinoma,0,2	LOC223075	0	2	Substitution - coding silent(2)	endometrium(2)	c.G735T						.						68	52	58					7																	31617535		2203	4300	6503	SO:0001819	synonymous_variant	223075	exon8			TCTGCTGAGTGAT	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.657G>T	7.37:g.31617535G>T		28	0		53	3	NM_001257968	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	CCDS5435.2																																																																																			.		0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		T	31617535	G	T	31617535	2	4	15	1	0	0	0	0	0	0	0	1	2771	1277	45	3		3	CCDC129	7	31617535	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2506030	31617535	127521128	72	2045											
GRM3	2913	hgsc.bcm.edu	37	7	86394780	86394780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:86394780G>T	ENST00000361669.2	+	2	1418	c.319G>T	c.(319-321)Gag>Tag	p.E107*	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.E107*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.E105*|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	107					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)	p.E107Q(1)		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)					CTATGCATTGGAGCAATCACT	0.408																																					p.E107X	GBM(52;969 1098 3139 52280)	.											GRM3,NS,carcinoma,-2,1	GRM3	-2	1	Substitution - Missense(1)	lung(1)	c.G319T						.						198	180	186					7																	86394780		2203	4300	6503	SO:0001587	stop_gained	2913	exon2			GCATTGGAGCAAT		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.319G>T	7.37:g.86394780G>T	ENSP00000355316:p.Glu107*	31	0		43	2	NM_000840	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Nonsense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783955	0.90282	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	.	.	.	5.24	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4394	0.67306	0.0:0.0:0.8517:0.1483	.	.	.	.	X	107;107;105	.	ENSP00000355316:E107X	E	+	1	0	GRM3	86232716	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.648000	0.98483	1.434000	0.47414	0.655000	0.94253	GAG	.		0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86394780	G	T	86394780	4	4	15	1	0	0	0	0	0	1	0	0	6825	1175	41	3	321	3	GRM3	7	86394780	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	54777245	86394780	72743883	73	2046											
FZD1	8321	hgsc.bcm.edu	37	7	90894459	90894459	+	Silent	SNP	A	A	G	rs71292991|rs139480179	byFrequency	TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:90894459A>G	ENST00000287934.2	+	1	677	c.264A>G	c.(262-264)caA>caG	p.Q88Q		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	88					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)	p.Q88_P89insP(2)|p.Q88_P89insA(1)		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)			cggggcAGCAACCGCCGCCGC	0.741																																					p.Q88Q		.											.,4	.	64	3	Insertion - In frame(3)	breast(2)|liver(1)	c.A264G						.						10	11	11					7																	90894459		2176	4257	6433	SO:0001819	synonymous_variant	8321	exon1			GCAGCAACCGCCG	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.264A>G	7.37:g.90894459A>G		7	0		20	4	NM_003505	A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	CCDS5620.1																																																																																			.		0.741	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		G	90894459	A	G	90894459	2	3	15	1	0	0	0	0	0	0	0	1	6152	40	2	4		4	FZD1	7	90894459	Silent	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	4499679	90894459	68244204	74	2047											
ZCWPW1	55063	hgsc.bcm.edu;bcgsc.ca	37	7	100000187	100000187	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:100000187G>A	ENST00000398027.2	-	16	1670	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.P355S|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.P355S	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	475							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTACGAATGGGCAAAATTGGG	0.438																																					p.P475S		.											.	.	.	0			c.C1423T						.						401	374	383					7																	100000187		1884	4127	6011	SO:0001583	missense	55063	exon16			GAATGGGCAAAAT	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1423C>T	7.37:g.100000187G>A	ENSP00000381109:p.Pro475Ser	30	0		57	4	NM_017984	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358435	0.24598	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000324725	T;T;T	0.50548	0.86;0.74;0.74	4.46	3.53	0.40419	.	0.751758	0.11886	N	0.520027	T	0.54046	0.1834	L	0.46157	1.445	0.20926	N	0.99983	D;D;D	0.63046	0.961;0.961;0.992	P;P;P	0.59357	0.617;0.617;0.856	T	0.36016	-0.9765	9	.	.	.	0.0417	7.7084	0.28663	0.1212:0.0:0.8788:0.0	.	436;475;355	B4DXS7;Q9H0M4;Q9H0M4-4	.;ZCPW1_HUMAN;.	S	475;355;355	ENSP00000381109:P475S;ENSP00000419187:P355S;ENSP00000314880:P355S	.	P	-	1	0	ZCWPW1	99838123	0.819000	0.29175	0.248000	0.24265	0.063000	0.16089	1.487000	0.35540	1.373000	0.46208	-0.345000	0.07892	CCC	.		0.438	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		A	100000187	G	A	100000187	3	1	15	1	0	0	0	0	1	0	0	0	17645	1203	42	3	535	3	ZCWPW1	7	100000187	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	9105728	100000187	59138476	75	2048											
ZAN	7455	bcgsc.ca	37	7	100349919	100349919	+	RNA	SNP	T	T	C	rs200193075	byFrequency	TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:100349919T>C	ENST00000348028.3	+	0	2356				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S731P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGAAAAATCCACCATCTC	0.517													N|||	80	0.0159744	0.0091	0.0144	5008	,	,		14946	0.0377		0.0159	False		,,,				2504	0.0041				.													ZAN,trunk,malignant_melanoma,0,1	ZAN	658	1	Substitution - Missense(1)	skin(1)	.						.						141	157	152					7																	100349919		1822	4070	5892			7455	.			GAAAAATCCACCA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349919T>C		133	9		182	24	.	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	N	4.049	0.006856	0.07866	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.64085	-0.08;-0.02;-0.08	3.93	-7.86	0.01187	.	.	.	.	.	T	0.34337	0.0894	N	0.02539	-0.55	0.19300	N	0.999976	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.61530	-0.7044	9	0.30078	T	0.28	.	16.8785	0.86058	0.1313:0.7109:0.0:0.1578	.	731;731	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	731	ENSP00000445943:S731P;ENSP00000445091:S731P;ENSP00000444427:S731P	ENSP00000423579:S731P	S	+	1	0	ZAN	100187855	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.783000	0.00005	-6.293000	0.00005	-3.776000	0.00021	TCC	T|0.996;C|0.004		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		C	100349919	T	C	100349919	1	2	15	0	1	0	0	0	0	0	0	0	17562	1435	50	4		4	ZAN	7	100349919	RNA	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	349732	100349919	58788744	76	2049											
CFTR	1080	hgsc.bcm.edu	37	7	117232262	117232262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr7:117232262G>T	ENST00000003084.6	+	14	2173	c.2041G>T	c.(2041-2043)Gaa>Taa	p.E681*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E620*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	681					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)	CTCCTGGACAGAAACAAAAAA	0.358									Cystic Fibrosis																												p.E681X		.											CFTR,NS,carcinoma,0,1	CFTR	0	0			c.G2041T						.						40	41	41					7																	117232262		2203	4300	6503	SO:0001587	stop_gained	1080	exon14	Familial Cancer Database	CF	TGGACAGAAACAA	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.2041G>T	7.37:g.117232262G>T	ENSP00000003084:p.Glu681*	25	0		40	2	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952566	0.92660	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.63	4.74	0.60224	.	0.181977	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-10.1405	13.9763	0.64275	0.074:0.0:0.926:0.0	.	.	.	.	X	681;620;651	.	ENSP00000003084:E681X	E	+	1	0	CFTR	117019498	1.000000	0.71417	0.068000	0.19968	0.222000	0.24845	4.899000	0.63245	1.478000	0.48253	0.563000	0.77884	GAA	.		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		T	117232262	G	T	117232262	4	4	15	1	0	0	0	0	0	1	0	0	3301	943	33	3	2095	3	CFTR	7	117232262	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	16882343	117232262	41906401	77	2050											
DLGAP2	9228	hgsc.bcm.edu	37	8	1626409	1626409	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:1626409T>C	ENST00000421627.2	+	9	2212	c.2078T>C	c.(2077-2079)gTc>gCc	p.V693A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	772					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)		TCTAACAGCGTCACGGCCGCC	0.557																																					p.V693A		.											.	.	.	0			c.T2078C						.						53	58	56					8																	1626409		2091	4192	6283	SO:0001583	missense	9228	exon9			ACAGCGTCACGGC	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.2078T>C	8.37:g.1626409T>C	ENSP00000400258:p.Val693Ala	41	0		77	4	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.627428|4.627428	0.87560|0.87560	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.20598	.|2.06	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47563|0.47563	0.1452|0.1452	M|M	0.81942|0.81942	2.565|2.565	0.48087|0.48087	D|D	0.999588|0.999588	.|D;D	.|0.76494	.|0.999;0.991	.|D;D	.|0.69307	.|0.957;0.963	T|T	0.53781|0.53781	-0.8390|-0.8390	5|10	.|0.66056	.|D	.|0.02	-13.8981|-13.8981	14.4352|14.4352	0.67277|0.67277	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|758;772	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	P|A	696|724;693	.|ENSP00000400258:V693A	.|ENSP00000348366:V724A	S|V	+|+	1|2	0|0	DLGAP2|DLGAP2	1613816|1613816	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.925000|0.925000	0.55904|0.55904	7.559000|7.559000	0.82265|0.82265	1.810000|1.810000	0.52873|0.52873	0.455000|0.455000	0.32223|0.32223	TCA|GTC	.		0.557	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		C	1626409	T	C	1626409	3	2	15	1	0	0	0	0	1	0	0	0	4574	1667	58	4	2108	4	DLGAP2	8	1626409	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09		1626409	144737613	78	2051											
BLK	640	hgsc.bcm.edu	37	8	11415529	11415529	+	Silent	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:11415529G>T	ENST00000259089.4	+	10	1603	c.1011G>T	c.(1009-1011)ctG>ctT	p.L337L	RP11-148O21.2_ENST00000533322.1_RNA|BLK_ENST00000529894.1_Silent_p.L266L|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L337L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCCAAGGCTGATTGACATGT	0.542																																					p.L337L		.											BLK,NS,carcinoma,+2,1	BLK	+2	1	Substitution - coding silent(1)	lung(1)	c.G1011T						.						140	106	117					8																	11415529		2203	4300	6503	SO:0001819	synonymous_variant	640	exon10			AAGGCTGATTGAC	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1011G>T	8.37:g.11415529G>T		16	0		22	2	NM_001715	Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	CCDS5982.1																																																																																			.		0.542	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			T	11415529	G	T	11415529	2	4	15	1	0	0	0	0	0	0	0	1	1446	1277	45	3		3	BLK	8	11415529	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	9789120	11415529	134948493	79	2052											
SLC7A2	6542	broad.mit.edu	37	8	17415880	17415880	+	Silent	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:17415880G>T	ENST00000494857.1	+	9	1490	c.1272G>T	c.(1270-1272)ctG>ctT	p.L424L	SLC7A2_ENST00000004531.10_Silent_p.L464L|SLC7A2_ENST00000522656.1_Silent_p.L424L|SLC7A2_ENST00000398090.3_Silent_p.L463L|SLC7A2_ENST00000470360.1_Silent_p.L463L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	424					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)	CCTACTCTCTGGTGGCAGCCT	0.532																																					p.L464L													.	SLC7A2	157	0			c.G1392T						.						176	136	150					8																	17415880		2203	4300	6503	SO:0001819	synonymous_variant	6542	exon8			CTCTCTGGTGGCA	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.1272G>T	8.37:g.17415880G>T		23	0		50	4	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	CCDS34852.1																																																																																			.		0.532	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		T	17415880	G	T	17415880	2	4	15	1	0	0	0	0	0	0	0	1	14742	1335	47	3		3	SLC7A2	8	17415880	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	6000351	17415880	128948142	80	2053											
PHYHIP	9796	broad.mit.edu	37	8	22079030	22079030	+	Missense_Mutation	SNP	G	G	T	rs199574600		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:22079030G>T	ENST00000321613.3	-	6	1285	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	PHYHIP_ENST00000454243.2_Missense_Mutation_p.R277S	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	277										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGGGCGTGGCGGAAGACCAGC	0.642																																					p.R277S													.	PHYHIP	24	0			c.C829A						.						71	87	82					8																	22079030		2135	4242	6377	SO:0001583	missense	9796	exon5			CGTGGCGGAAGAC	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.829C>A	8.37:g.22079030G>T	ENSP00000320017:p.Arg277Ser	17	0		26	3	NM_014759	D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943811	0.34283	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.28895	1.59;1.59	5.48	5.48	0.80851	.	0.160851	0.56097	D	0.000022	T	0.16257	0.0391	N	0.08118	0	0.43919	D	0.996564	B	0.22541	0.071	B	0.20184	0.028	T	0.10636	-1.0621	10	0.27785	T	0.31	-41.0255	11.5865	0.50920	0.083:0.0:0.917:0.0	.	277	Q92561	PHYIP_HUMAN	S	277;277;184;229	ENSP00000320017:R277S;ENSP00000415491:R277S	ENSP00000320017:R277S	R	-	1	0	PHYHIP	22134975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.213000	0.58520	2.580000	0.87095	0.555000	0.69702	CGC	.		0.642	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		T	22079030	G	T	22079030	3	4	15	1	0	0	0	0	1	0	0	0	11905	1116	39	2	167	2	PHYHIP	8	22079030	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	4663150	22079030	124284992	81	2054											
PXDNL	137902	hgsc.bcm.edu	37	8	52361599	52361599	+	Missense_Mutation	SNP	G	G	T	rs377262954		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:52361599G>T	ENST00000356297.4	-	11	1429	c.1329C>A	c.(1327-1329)gaC>gaA	p.D443E	PXDNL_ENST00000543296.1_Missense_Mutation_p.D443E	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	443	Ig-like C2-type 3.				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.D443D(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)				GTGGGTTGCCGTCAGCTTCAC	0.428																																					p.D443E		.											PXDNL_ENST00000356297,NS,carcinoma,0,1	PXDNL_ENST00000356297	0	1	Substitution - coding silent(1)	breast(1)	c.C1329A						.						54	56	56					8																	52361599		1919	4072	5991	SO:0001583	missense	137902	exon11			GTTGCCGTCAGCT		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.1329C>A	8.37:g.52361599G>T	ENSP00000348645:p.Asp443Glu	23	0		35	3	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.262	-0.998631	0.02128	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.64438	-0.1;-0.1	4.69	-9.38	0.00623	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24699	0.0599	N	0.03268	-0.37	0.09310	N	1	B	0.12013	0.005	B	0.19391	0.025	T	0.17653	-1.0362	9	0.08837	T	0.75	.	2.9422	0.05834	0.2779:0.4386:0.1154:0.1681	.	443	A1KZ92	PXDNL_HUMAN	E	443	ENSP00000348645:D443E;ENSP00000444865:D443E	ENSP00000348645:D443E	D	-	3	2	PXDNL	52524152	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.271000	0.01166	-1.397000	0.02068	-1.909000	0.00523	GAC	.		0.428	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		T	52361599	G	T	52361599	3	4	15	1	0	0	0	0	1	0	0	0	12893	1136	40	2	3114	2	PXDNL	8	52361599	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	30282569	52361599	94002423	82	2055											
PREX2	80243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	69129946	69129946	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:69129946G>A	ENST00000288368.4	+	38	4977	c.4700G>A	c.(4699-4701)cGg>cAg	p.R1567Q		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	1567					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)	p.R1567Q(1)		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						GATGTGATGCGGAAGCAGGTA	0.527																																					p.R1567Q		.											PREX2,NS,carcinoma,0,1	PREX2	0	1	Substitution - Missense(1)	prostate(1)	c.G4700A						.						140	99	113					8																	69129946		2203	4300	6503	SO:0001583	missense	80243	exon38			TGATGCGGAAGCA	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.4700G>A	8.37:g.69129946G>A	ENSP00000288368:p.Arg1567Gln	29	0		19	8	NM_024870	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	36	5.751501	0.96890	.	.	ENSG00000046889	ENST00000288368	T	0.76839	-1.05	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.83876	0.5349	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84785	0.0775	10	0.87932	D	0	.	19.2235	0.93808	0.0:0.0:1.0:0.0	.	1567	Q70Z35	PREX2_HUMAN	Q	1567	ENSP00000288368:R1567Q	ENSP00000288368:R1567Q	R	+	2	0	PREX2	69292500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.973000	0.93428	2.838000	0.97847	0.591000	0.81541	CGG	.		0.527	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	69129946	G	A	69129946	3	1	15	1	0	0	0	0	1	0	0	0	12519	1116	39	1	5079	1	PREX2	8	69129946	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	16768347	69129946	77234076	83	2056											
LRRCC1	85444	hgsc.bcm.edu	37	8	86038933	86038933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:86038933G>T	ENST00000360375.3	+	9	1431	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	LRRCC1_ENST00000414626.2_Nonsense_Mutation_p.E408*	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	428					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTCCCTTGTTGAACAGCTAGA	0.368																																					p.E428X		.											.	.	.	0			c.G1282T						.						66	64	64					8																	86038933		1867	4100	5967	SO:0001587	stop_gained	85444	exon9			CTTGTTGAACAGC	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1282G>T	8.37:g.86038933G>T	ENSP00000353538:p.Glu428*	46	0		85	3	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Nonsense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	38	6.780504	0.97833	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	.	.	.	5.56	3.71	0.42584	.	0.000000	0.37095	N	0.002257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-10.4777	14.2094	0.65755	0.0:0.5668:0.4332:0.0	.	.	.	.	X	428;408	.	ENSP00000353538:E428X	E	+	1	0	LRRCC1	86226185	1.000000	0.71417	0.968000	0.41197	0.962000	0.63368	3.306000	0.51881	1.347000	0.45714	0.655000	0.94253	GAA	.		0.368	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		T	86038933	G	T	86038933	4	4	15	1	0	0	0	0	0	1	0	0	9061	1291	45	3	1316	3	LRRCC1	8	86038933	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	16908987	86038933	60325089	84	2057											
NBN	4683	broad.mit.edu	37	8	90983510	90983510	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:90983510G>T	ENST00000265433.3	-	6	747	c.593C>A	c.(592-594)cCa>cAa	p.P198Q	NBN_ENST00000409330.1_Missense_Mutation_p.P116Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	198	Mediates interaction with SP100. {ECO:0000250}.				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)			ATCAAGAGGTGGGTAAAAACT	0.299								Homologous recombination																													p.P198Q													.	NBN	86	0			c.C593A						.						45	46	46					8																	90983510		2201	4294	6495	SO:0001583	missense	4683	exon6			AGAGGTGGGTAAA	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.593C>A	8.37:g.90983510G>T	ENSP00000265433:p.Pro198Gln	112	0		222	4	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382702	0.82792	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000519426;ENST00000517772	T;T;T;T	0.79940	-1.32;-1.11;1.31;-1.14	5.84	5.84	0.93424	.	0.050989	0.85682	D	0.000000	D	0.91633	0.7356	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92172	0.5744	10	0.87932	D	0	-17.6889	20.1346	0.98019	0.0:0.0:1.0:0.0	.	198;198	A6H8Y5;O60934	.;NBN_HUMAN	Q	198;116;198;110;116	ENSP00000265433:P198Q;ENSP00000386924:P116Q;ENSP00000430983:P110Q;ENSP00000428717:P116Q	ENSP00000265433:P198Q	P	-	2	0	NBN	91052686	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.987000	0.76206	2.765000	0.95021	0.655000	0.94253	CCA	.		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		T	90983510	G	T	90983510	3	4	15	1	0	0	0	0	1	0	0	0	10229	1348	47	3	1715	3	NBN	8	90983510	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	4944577	90983510	55380512	85	2058											
SLC25A32	81034	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	104413805	104413805	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:104413805G>T	ENST00000297578.4	-	6	917	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	SLC25A32_ENST00000523701.1_5'UTR|SLC25A32_ENST00000543107.1_Missense_Mutation_p.R119S	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	251					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)	p.R251S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCCTGAAGACGAGCTCTTACG	0.388																																					p.R251S		.											.	.	.	1	Substitution - Missense(1)	lung(1)	c.C751A						.						172	155	161					8																	104413805		2203	4300	6503	SO:0001583	missense	81034	exon6			GAAGACGAGCTCT	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.751C>A	8.37:g.104413805G>T	ENSP00000297578:p.Arg251Ser	38	0		93	4	NM_030780	Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766460	0.90020	.	.	ENSG00000164933	ENST00000297578;ENST00000424899;ENST00000543107	D;D	0.83992	-1.79;-1.79	5.72	5.72	0.89469	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94860	0.8339	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96416	0.9308	10	0.87932	D	0	-4.5331	14.6799	0.69009	0.0:0.0:0.8548:0.1452	.	251	Q9H2D1	MFTC_HUMAN	S	251;235;119	ENSP00000297578:R251S;ENSP00000443497:R119S	ENSP00000297578:R251S	R	-	1	0	SLC25A32	104482981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.690000	0.91761	0.655000	0.94253	CGT	.		0.388	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		T	104413805	G	T	104413805	3	4	15	1	0	0	0	0	1	0	0	0	14541	1058	37	2	204	2	SLC25A32	8	104413805	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	13430295	104413805	41950217	86	2059											
LRP12	29967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	105510177	105510177	+	Silent	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:105510177G>A	ENST00000276654.5	-	5	711	c.603C>T	c.(601-603)gcC>gcT	p.A201A	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Silent_p.A182A	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	201	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			TTGCTTCTTTGGCACAGATCT	0.438																																					p.A201A		.											.	.	.	0			c.C603T						.						204	182	189					8																	105510177		2203	4300	6503	SO:0001819	synonymous_variant	29967	exon5			TTCTTTGGCACAG	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.603C>T	8.37:g.105510177G>A		46	0		97	23	NM_013437	A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	CCDS6303.1																																																																																			.		0.438	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		A	105510177	G	A	105510177	2	1	15	1	0	0	0	0	0	0	0	1	8989	1335	47	3		3	LRP12	8	105510177	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	1096372	105510177	40853845	87	2060											
TRMT12	55039	hgsc.bcm.edu;bcgsc.ca	37	8	125464268	125464268	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:125464268C>T	ENST00000328599.3	+	1	1221	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	367					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)			CAGCAAATTACCACCAACCAA	0.473																																					p.T367I		.											.	.	.	0			c.C1100T						.						61	59	59					8																	125464268		2203	4300	6503	SO:0001583	missense	55039	exon1			AAATTACCACCAA	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.1100C>T	8.37:g.125464268C>T	ENSP00000329858:p.Thr367Ile	57	0		80	4	NM_017956	Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	C	0.104	-1.148425	0.01714	.	.	ENSG00000183665	ENST00000328599	T	0.46063	0.88	4.81	-2.03	0.07365	.	1.156040	0.06525	N	0.740352	T	0.14270	0.0345	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16660	-1.0395	10	0.36615	T	0.2	-0.3166	4.1944	0.10437	0.1789:0.4232:0.0:0.3979	.	367	Q53H54	TYW2_HUMAN	I	367	ENSP00000329858:T367I	ENSP00000329858:T367I	T	+	2	0	TRMT12	125533449	0.000000	0.05858	0.045000	0.18777	0.204000	0.24138	-0.493000	0.06459	-0.157000	0.11059	-0.459000	0.05422	ACC	.		0.473	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		T	125464268	C	T	125464268	3	4	15	1	0	0	0	0	1	0	0	0	16612	507	18	3	1102	3	TRMT12	8	125464268	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	19954091	125464268	20899754	88	2061											
OC90	729330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	133044207	133044207	+	Silent	SNP	G	G	T	rs199706785		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:133044207G>T	ENST00000443356.2	-	13	1086	c.1000C>A	c.(1000-1002)Cgg>Agg	p.R334R	OC90_ENST00000603859.1_Silent_p.R318R|OC90_ENST00000262283.5_Silent_p.R530R|OC90_ENST00000254627.3_Silent_p.R318R			Q02509	OC90_HUMAN	otoconin 90	334	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)			TCCGGGCACCGGGATGTCAGA	0.542																																					p.R318R		.											.	.	.	0			c.C952A						.						88	88	88					8																	133044207		2019	4180	6199	SO:0001819	synonymous_variant	729330	exon12			GGCACCGGGATGT	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.1000C>A	8.37:g.133044207G>T		21	0		35	11	NM_001080399	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																				.		0.542	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		T	133044207	G	T	133044207	2	4	15	1	0	0	0	0	0	0	0	1	10853	1115	39	2		2	OC90	8	133044207	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	7579939	133044207	13319815	89	2062											
PLEC	5339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144991673	144991673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:144991673C>A	ENST00000322810.4	-	32	12896	c.12727G>T	c.(12727-12729)Gag>Tag	p.E4243*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.E4084*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E4092*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E4133*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E4106*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E4074*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E4110*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E4106*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E4129*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4243	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)	p.E4243*(1)|p.E4133*(1)|p.E4106*(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						ATACAACGCTCCATCAGCTGC	0.597																																					p.E4243X		.											PLEC_ENST00000436759,NS,carcinoma,0,3	PLEC_ENST00000436759	0	3	Substitution - Nonsense(3)	kidney(3)	c.G12727T						.						55	60	58					8																	144991673		2085	4216	6301	SO:0001587	stop_gained	5339	exon32			AACGCTCCATCAG	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.12727G>T	8.37:g.144991673C>A	ENSP00000323856:p.Glu4243*	29	0		60	13	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	54	22.160543	0.99946	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.14	4.26	0.50523	.	0.081026	0.46758	U	0.000274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.4199	0.75003	0.0:0.8602:0.1398:0.0	.	.	.	.	X	4106;4110;4106;4074;4243;4084;4092;4133;4129	.	ENSP00000323856:E4243X	E	-	1	0	PLEC	145063661	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.796000	0.69080	1.373000	0.46208	0.549000	0.68633	GAG	.		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144991673	C	A	144991673	4	1	15	1	0	0	0	0	0	1	0	0	12091	864	30	3	1331	3	PLEC	8	144991673	Nonsense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	11947466	144991673	1372349	90	2063											
SLC39A4	55630	broad.mit.edu	37	8	145640396	145640396	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr8:145640396G>T	ENST00000301305.3	-	4	871	c.766C>A	c.(766-768)Ctc>Atc	p.L256I	SLC39A4_ENST00000276833.5_Missense_Mutation_p.L231I|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	256					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)			GAGCTGATGAGGGGCACAGGG	0.667																																					p.L256I													.	SLC39A4	54	0			c.C766A						.						40	45	43					8																	145640396		2203	4300	6503	SO:0001583	missense	55630	exon4			TGATGAGGGGCAC	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.766C>A	8.37:g.145640396G>T	ENSP00000301305:p.Leu256Ile	26	0		64	4	NM_130849	Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169376	0.38315	.	.	ENSG00000147804	ENST00000276833;ENST00000301305;ENST00000526658	T;T;T	0.61627	0.09;0.09;0.09	5.0	3.2	0.36748	.	3.221490	0.00766	N	0.001170	T	0.54854	0.1884	L	0.47716	1.5	0.09310	N	1	B;B	0.33073	0.396;0.396	B;B	0.34722	0.188;0.099	T	0.38023	-0.9680	10	0.37606	T	0.19	0.2389	7.6052	0.28097	0.1978:0.0:0.8022:0.0	.	256;231	Q6P5W5;A6NDY5	S39A4_HUMAN;.	I	231;256;162	ENSP00000276833:L231I;ENSP00000301305:L256I;ENSP00000434512:L162I	ENSP00000276833:L231I	L	-	1	0	SLC39A4	145611204	0.312000	0.24545	0.001000	0.08648	0.028000	0.11728	1.212000	0.32394	0.540000	0.28808	0.543000	0.68304	CTC	.		0.667	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			T	145640396	G	T	145640396	3	4	15	1	0	0	0	0	1	0	0	0	14665	1000	35	3	1213	3	SLC39A4	8	145640396	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	648723	145640396	723626	91	2064											
CDC37L1	55664	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	4685133	4685133	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr9:4685133C>T	ENST00000381854.3	+	2	591	c.389C>T	c.(388-390)gCc>gTc	p.A130V	CDC37L1_ENST00000381858.1_Missense_Mutation_p.A130V|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	130	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)		AGCACGGATGCCATTAGCAAG	0.418																																					p.A130V		.											.	.	.	0			c.C389T						.						137	142	140					9																	4685133		2203	4300	6503	SO:0001583	missense	55664	exon2			CGGATGCCATTAG	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.389C>T	9.37:g.4685133C>T	ENSP00000371278:p.Ala130Val	72	0		59	5	NM_017913	B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	37	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184309	0.38609	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.44083	0.93;0.94	5.28	4.36	0.52297	.	0.458490	0.25497	N	0.030274	T	0.25195	0.0612	N	0.14661	0.345	0.28487	N	0.914672	B	0.10296	0.003	B	0.16722	0.016	T	0.13361	-1.0512	10	0.51188	T	0.08	-15.8115	7.7911	0.29121	0.0:0.6082:0.2749:0.117	.	130	Q7L3B6	CD37L_HUMAN	V	130	ENSP00000371282:A130V;ENSP00000371278:A130V	ENSP00000371278:A130V	A	+	2	0	CDC37L1	4675133	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.524000	0.35942	1.322000	0.45245	0.467000	0.42956	GCC	.		0.418	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		T	4685133	C	T	4685133	3	4	15	1	0	0	0	0	1	0	0	0	3076	739	26	3	395	3	CDC37L1	9	4685133	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09		4685133	136528298	92	2065											
VPS13A	23230	hgsc.bcm.edu	37	9	79890501	79890501	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr9:79890501G>T	ENST00000360280.3	+	25	2860	c.2600G>T	c.(2599-2601)aGa>aTa	p.R867I	VPS13A_ENST00000376634.4_Missense_Mutation_p.R867I|VPS13A_ENST00000357409.5_Missense_Mutation_p.R867I|VPS13A_ENST00000376636.3_Missense_Mutation_p.R867I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	867					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						ATTCGAACCAGAAAGTTACAA	0.348																																					p.R867I		.											.	.	.	0			c.G2600T						.						103	112	109					9																	79890501		2203	4299	6502	SO:0001583	missense	23230	exon25			GAACCAGAAAGTT	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.2600G>T	9.37:g.79890501G>T	ENSP00000353422:p.Arg867Ile	93	0		95	4	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941396	0.34283	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.49432	0.95;0.78;0.86;0.95	5.6	-4.27	0.03744	.	0.820473	0.11188	N	0.590268	T	0.24967	0.0606	N	0.08118	0	0.09310	N	0.999996	B;B;B;B	0.26002	0.074;0.047;0.139;0.06	B;B;B;B	0.28553	0.091;0.015;0.047;0.047	T	0.17258	-1.0375	10	0.38643	T	0.18	.	10.8663	0.46858	0.69:0.1014:0.2086:0.0	.	867;867;867;867	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	867	ENSP00000365821:R867I;ENSP00000365823:R867I;ENSP00000353422:R867I;ENSP00000349985:R867I	ENSP00000349985:R867I	R	+	2	0	VPS13A	79080321	0.004000	0.15560	0.000000	0.03702	0.091000	0.18340	-0.333000	0.07894	-1.323000	0.02275	-0.378000	0.06908	AGA	.		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79890501	G	T	79890501	3	4	15	1	0	0	0	0	1	0	0	0	17238	942	33	3	2698	3	VPS13A	9	79890501	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	75205368	79890501	61322930	93	2066											
C9orf79	286234	hgsc.bcm.edu	37	9	90502147	90502147	+	Silent	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr9:90502147C>A	ENST00000325643.5	+	4	2811	c.2745C>A	c.(2743-2745)acC>acA	p.T915T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	915					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T915T(3)									CAGTCCCGACCGTGAGTGGCC	0.587																																					p.T915T		.											C9orf79,NS,carcinoma,0,3	C9orf79	0	3	Substitution - coding silent(3)	upper_aerodigestive_tract(1)|lung(1)|endometrium(1)	c.C2745A						.						53	54	54					9																	90502147		2203	4300	6503	SO:0001819	synonymous_variant	286234	exon4			CCCGACCGTGAGT	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.2745C>A	9.37:g.90502147C>A		55	0		37	2	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																			.		0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		A	90502147	C	A	90502147	2	1	15	1	0	0	0	0	0	0	0	1	2504	639	23	2		2	C9orf79	9	90502147	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	10611646	90502147	50711284	94	2067											
ROR2	4920	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	94487167	94487167	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr9:94487167C>T	ENST00000375708.3	-	9	1807	c.1609G>A	c.(1609-1611)Gtc>Atc	p.V537I	ROR2_ENST00000375715.1_Missense_Mutation_p.V397I|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						AGCAGGCAGACGACGTTGGGG	0.627																																					p.V537I		.											.	.	.	0			c.G1609A						.						72	72	72					9																	94487167		2203	4300	6503	SO:0001583	missense	4920	exon9			GGCAGACGACGTT	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.1609G>A	9.37:g.94487167C>T	ENSP00000364860:p.Val537Ile	19	0		9	7	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.254016	0.39896	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.91996	-2.95;-2.95	4.56	2.69	0.31865	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38005	N	0.001852	D	0.86272	0.5893	L	0.35593	1.075	0.58432	D	0.999999	B;B	0.12630	0.003;0.006	B;B	0.22152	0.013;0.038	T	0.79035	-0.1968	10	0.33141	T	0.24	.	10.941	0.47273	0.0:0.847:0.0:0.153	.	537;397	Q01974;B1APY4	ROR2_HUMAN;.	I	397;537	ENSP00000364867:V397I;ENSP00000364860:V537I	ENSP00000364860:V537I	V	-	1	0	ROR2	93526988	0.748000	0.28294	0.883000	0.34634	0.946000	0.59487	1.462000	0.35266	0.639000	0.30564	0.561000	0.74099	GTC	.		0.627	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			T	94487167	C	T	94487167	3	4	15	1	0	0	0	0	1	0	0	0	13572	536	19	1	1226	1	ROR2	9	94487167	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	3985020	94487167	46726264	95	2068											
SCAI	286205	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	127762184	127762184	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr9:127762184G>T	ENST00000336505.6	-	13	1288	c.1230C>A	c.(1228-1230)caC>caA	p.H410Q	SCAI_ENST00000373549.4_Missense_Mutation_p.H433Q|SCAI_ENST00000487795.1_5'Flank	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	410					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GCATTTCCTTGTGGGACTGAT	0.323																																					p.H433Q		.											.	.	.	0			c.C1299A						.						161	158	159					9																	127762184		1835	4085	5920	SO:0001583	missense	286205	exon14			TTCCTTGTGGGAC	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1230C>A	9.37:g.127762184G>T	ENSP00000336756:p.His410Gln	52	0		81	4	NM_173690	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774866	0.31411	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41065	1.02;1.01	6.17	2.95	0.34219	.	0.196102	0.56097	N	0.000035	T	0.21347	0.0514	N	0.13235	0.315	0.32084	N	0.592749	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11324	-1.0592	10	0.28530	T	0.3	-10.1319	5.5634	0.17157	0.2551:0.1568:0.5881:0.0	.	410;433	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	410;433	ENSP00000336756:H410Q;ENSP00000362650:H433Q	ENSP00000336756:H410Q	H	-	3	2	SCAI	126802005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.967000	0.40491	0.902000	0.36520	0.655000	0.94253	CAC	.		0.323	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		T	127762184	G	T	127762184	3	4	15	1	0	0	0	0	1	0	0	0	13914	1368	48	3	614	3	SCAI	9	127762184	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	33275017	127762184	13451247	96	2069											
MARCH8	220972	bcgsc.ca	37	10	46028613	46028613	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr10:46028613G>A	ENST00000319836.3	-	2	796	c.47C>T	c.(46-48)gCc>gTc	p.A16V	MARCH8_ENST00000395769.2_Missense_Mutation_p.A16V|MARCH8_ENST00000395771.3_Missense_Mutation_p.A16V|MARCH8_ENST00000453424.2_Missense_Mutation_p.A16V	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	16					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AGCAGAGATGGCATCCTGGGA	0.428																																					p.A16V	NSCLC(102;658 1594 2173 16344 34808)												.	MARCH8	29	0			c.C47T						.						112	105	107					10																	46028613		2203	4300	6503	SO:0001583	missense	220972	exon2			GAGATGGCATCCT	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.47C>T	10.37:g.46028613G>A	ENSP00000317087:p.Ala16Val	45	0		58	4	NM_001002266	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190265	0.21954	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769;ENST00000453980	T;T;T	0.10960	2.82;2.82;2.82	5.04	2.17	0.27698	.	.	.	.	.	T	0.06280	0.0162	N	0.22421	0.69	0.21064	N	0.999791	B	0.06786	0.001	B	0.04013	0.001	T	0.44802	-0.9304	9	0.12766	T	0.61	.	6.4049	0.21658	0.3035:0.0:0.6965:0.0	.	16	Q5T0T0	MARH8_HUMAN	V	16	ENSP00000379118:A16V;ENSP00000317087:A16V;ENSP00000379116:A16V	ENSP00000317087:A16V	A	-	2	0	MARCH8	45348619	0.959000	0.32827	0.973000	0.42090	0.974000	0.67602	1.548000	0.36201	0.523000	0.28482	0.563000	0.77884	GCC	.		0.428	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		A	46028613	G	A	46028613	3	1	15	1	0	0	0	0	1	0	0	0	9345	1203	42	3	852	3	MARCH8	10	46028613	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		46028613	89506134	97	2070											
ZDHHC6	64429	hgsc.bcm.edu	37	10	114200370	114200370	+	Silent	SNP	A	A	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr10:114200370A>G	ENST00000369405.3	-	5	1026	c.603T>C	c.(601-603)gcT>gcC	p.A201A	ZDHHC6_ENST00000369404.3_Silent_p.A197A	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	201					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)		TAGCAAATGCAGCTAATCCAA	0.443																																					p.A201A		.											.	.	.	0			c.T603C						.						173	156	161					10																	114200370		2203	4300	6503	SO:0001819	synonymous_variant	64429	exon5			AAATGCAGCTAAT	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.603T>C	10.37:g.114200370A>G		68	0		82	2	NM_022494	D3DRB6|Q53G45|Q96IV7|Q9H605	Silent	SNP	ENST00000369405.3	37	CCDS7574.1																																																																																			.		0.443	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		G	114200370	A	G	114200370	2	3	15	1	0	0	0	0	0	0	0	1	17667	175	7	4		4	ZDHHC6	10	114200370	Silent	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	68171757	114200370	21334377	98	2071											
SLC18A2	6571	hgsc.bcm.edu	37	10	119003781	119003781	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr10:119003781G>T	ENST00000298472.5	+	3	564	c.421G>T	c.(421-423)Gtc>Ttc	p.V141F	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	141					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAAGCCACCGTCCAGCTCAT	0.478																																					p.V141F		.											SLC18A2,NS,haematopoietic_neoplasm,0,1	SLC18A2	0	0			c.G421T						.						63	59	60					10																	119003781		2203	4300	6503	SO:0001583	missense	6571	exon3			GCCACCGTCCAGC	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.421G>T	10.37:g.119003781G>T	ENSP00000298472:p.Val141Phe	20	0		37	2	NM_003054	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168853	0.78339	.	.	ENSG00000165646	ENST00000298472	T	0.57436	0.4	5.71	2.31	0.28768	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122077	0.53938	D	0.000041	T	0.63248	0.2495	M	0.72894	2.215	0.58432	D	0.999999	P	0.46512	0.879	P	0.57009	0.811	T	0.62305	-0.6882	10	0.42905	T	0.14	-24.6891	10.5411	0.45033	0.2478:0.0:0.7522:0.0	.	141	Q05940	VMAT2_HUMAN	F	141	ENSP00000298472:V141F	ENSP00000298472:V141F	V	+	1	0	SLC18A2	118993771	1.000000	0.71417	0.672000	0.29872	0.978000	0.69477	3.545000	0.53648	0.726000	0.32339	0.655000	0.94253	GTC	.		0.478	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		T	119003781	G	T	119003781	3	4	15	1	0	0	0	0	1	0	0	0	14471	1145	40	2	427	2	SLC18A2	10	119003781	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	4803411	119003781	16530966	99	2072											
HPS5	11234	hgsc.bcm.edu	37	11	18339303	18339303	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:18339303G>T	ENST00000349215.3	-	2	380	c.103C>A	c.(103-105)Cta>Ata	p.L35I	HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron|HPS5_ENST00000396253.3_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	35					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.L35V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTCACCTTTAGACGACTGGAG	0.473									Hermansky-Pudlak syndrome																												p.L35I		.											HPS5,NS,carcinoma,0,1	HPS5	0	1	Substitution - Missense(1)	breast(1)	c.C103A						.						59	53	55					11																	18339303		2199	4293	6492	SO:0001583	missense	11234	exon2	Familial Cancer Database	HPS, HPS1-8	CCTTTAGACGACT	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.103C>A	11.37:g.18339303G>T	ENSP00000265967:p.Leu35Ile	43	0		58	3	NM_181507	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383866	0.42308	.	.	ENSG00000110756	ENST00000349215	T	0.63096	-0.02	5.05	4.14	0.48551	WD40 repeat-like-containing domain (1);	0.075577	0.53938	D	0.000051	T	0.51839	0.1698	N	0.17082	0.46	0.80722	D	1	P;P	0.51351	0.859;0.944	B;P	0.54460	0.41;0.753	T	0.45934	-0.9227	10	0.08179	T	0.78	.	9.9396	0.41572	0.1566:0.0:0.8434:0.0	.	51;35	Q8IZE8;Q9UPZ3	.;HPS5_HUMAN	I	35	ENSP00000265967:L35I	ENSP00000265967:L35I	L	-	1	2	HPS5	18295879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.647000	0.46639	1.112000	0.41740	0.591000	0.81541	CTA	.		0.473	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		T	18339303	G	T	18339303	3	4	15	1	0	0	0	0	1	0	0	0	7369	933	33	3	3374	3	HPS5	11	18339303	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		18339303	116667213	100	2073											
CSRP3	8048	hgsc.bcm.edu	37	11	19206570	19206570	+	Missense_Mutation	SNP	C	C	T	rs377066670		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:19206570C>T	ENST00000533783.1	-	6	677	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CSRP3_ENST00000265968.3_Missense_Mutation_p.R146H	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	146	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GATGGCACAGCGGAAACAGGT	0.458																																					p.R146H		.											CSRP3,NS,malignant_melanoma,0,1	CSRP3	0	0			c.G437A						.	C	HIS/ARG,HIS/ARG	0,4398		0,0,2199	100	89	93		437,437	5.4	1	11		93	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	CSRP3	NM_001127656.1,NM_003476.3	29,29	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	146/195,146/195	19206570	1,12983	2199	4293	6492	SO:0001583	missense	8048	exon6			GCACAGCGGAAAC	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.437G>A	11.37:g.19206570C>T	ENSP00000431813:p.Arg146His	44	1		68	3	NM_003476	Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246411	0.95305	0.0	1.16E-4	ENSG00000129170	ENST00000265968;ENST00000533783	D;D	0.91295	-2.82;-2.82	5.41	5.41	0.78517	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.83384	2.64	0.80722	D	1	D	0.62365	0.991	D	0.64506	0.926	D	0.95733	0.8776	10	0.72032	D	0.01	-7.824	18.7893	0.91966	0.0:1.0:0.0:0.0	.	146	P50461	CSRP3_HUMAN	H	146	ENSP00000265968:R146H;ENSP00000431813:R146H	ENSP00000265968:R146H	R	-	2	0	CSRP3	19163146	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.794000	0.85869	2.552000	0.86080	0.655000	0.94253	CGC	.		0.458	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		T	19206570	C	T	19206570	3	4	15	1	0	0	0	0	1	0	0	0	3978	768	27	1	155	1	CSRP3	11	19206570	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	867267	19206570	115799946	101	2074											
LMO2	4005	ucsc.edu	37	11	33881017	33881017	+	Missense_Mutation	SNP	T	T	C	rs570458390		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:33881017T>C	ENST00000395833.3	-	3	791	c.362A>G	c.(361-363)aAa>aGa	p.K121R	LMO2_ENST00000257818.2_Missense_Mutation_p.K190R	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	121	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|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 positive regulation of transcription (GO:0001190)|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)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GGCGGCGCATTTGAAACATTC	0.488			T	TRD@	T-ALL								T|||	1	0.000199681	0	0	5008	,	,		20133	0.001		0	False		,,,				2504	0				p.K190R				Dom	yes		11	11p13	4005	LIM domain only 2 (rhombotin-like 1) (RBTN2)		L	LMO2,NS,carcinoma,-1,2	LMO2	21	0			c.A569G						.						136	115	123					11																	33881017		2202	4298	6500	SO:0001583	missense	4005	exon6			GCGCATTTGAAAC	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"T-cell translocation gene 2", "rhombotin-like 1"	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.362A>G	11.37:g.33881017T>C	ENSP00000379175:p.Lys121Arg	33	0		42	4	NM_005574	Q9HD58	Missense_Mutation	SNP	ENST00000395833.3	37	CCDS44567.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748602	0.69533	.	.	ENSG00000135363	ENST00000395833;ENST00000257818	D;D	0.87256	-2.23;-2.23	5.15	5.15	0.70609	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	N	0.13043	0.29	0.80722	D	1	D;D	0.59357	0.985;0.974	P;D	0.67103	0.728;0.949	D	0.88263	0.2924	10	0.45353	T	0.12	.	15.286	0.73828	0.0:0.0:0.0:1.0	.	190;121	P25791-3;P25791	.;RBTN2_HUMAN	R	121;190	ENSP00000379175:K121R;ENSP00000257818:K190R	ENSP00000257818:K190R	K	-	2	0	LMO2	33837593	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.792000	0.85828	2.087000	0.62958	0.402000	0.26972	AAA	.		0.488	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		C	33881017	T	C	33881017	3	2	15	1	0	0	0	0	1	0	0	0	8882	1841	64	4	118	4	LMO2	11	33881017	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	14674447	33881017	101125499	102	2075											
AMBRA1	55626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	46529852	46529852	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:46529852T>C	ENST00000458649.2	-	9	2646	c.2228A>G	c.(2227-2229)cAg>cGg	p.Q743R	AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000426438.1_Missense_Mutation_p.Q714R|AMBRA1_ENST00000314845.3_Missense_Mutation_p.Q653R|AMBRA1_ENST00000533727.1_Missense_Mutation_p.Q624R|AMBRA1_ENST00000528950.1_Missense_Mutation_p.Q714R|AMBRA1_ENST00000298834.3_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	743					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)		CATGGAGCGCTGGCGAATACT	0.512																																					p.Q746R		.											.	.	.	0			c.A2237G						.						108	96	100					11																	46529852		2201	4299	6500	SO:0001583	missense	55626	exon11			GAGCGCTGGCGAA	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.2228A>G	11.37:g.46529852T>C	ENSP00000415327:p.Gln743Arg	37	0		49	18	NM_001267782	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	T	34	5.293414	0.95546	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000426438;ENST00000458649;ENST00000528950	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	6.17	6.17	0.99709	.	.	.	.	.	D	0.92596	0.7648	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.63046	0.987;0.992;0.992;0.992;0.992	D;D;D;D;D	0.72982	0.953;0.979;0.979;0.979;0.979	D	0.92854	0.6300	9	0.51188	T	0.08	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	743;714;624;746;653	Q9C0C7;Q9C0C7-3;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.	R	653;624;714;743;714	ENSP00000318313:Q653R;ENSP00000433372:Q624R;ENSP00000410899:Q714R;ENSP00000415327:Q743R;ENSP00000433945:Q714R	ENSP00000318313:Q653R	Q	-	2	0	AMBRA1	46486428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	2.371000	0.80710	0.533000	0.62120	CAG	.		0.512	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		C	46529852	T	C	46529852	3	2	15	1	0	0	0	0	1	0	0	0	565	1580	55	4	1708	4	AMBRA1	11	46529852	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	12648835	46529852	88476664	103	2076											
PATL1	219988	hgsc.bcm.edu	37	11	59418265	59418265	+	Silent	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:59418265G>T	ENST00000300146.9	-	13	1630	c.1546C>A	c.(1546-1548)Cga>Aga	p.R516R		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	516	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						CTCTTGTCTCGAACTTGTTTT	0.303																																					p.R516R		.											.	.	.	0			c.C1546A						.						86	75	78					11																	59418265		1785	4043	5828	SO:0001819	synonymous_variant	219988	exon13			TGTCTCGAACTTG	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.1546C>A	11.37:g.59418265G>T		76	0		91	4	NM_152716	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	CCDS44613.1																																																																																			.		0.303	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		T	59418265	G	T	59418265	2	4	15	1	0	0	0	0	0	0	0	1	11514	1066	37	2		2	PATL1	11	59418265	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	12888413	59418265	75588251	104	2077											
AHNAK	79026	hgsc.bcm.edu	37	11	62300279	62300279	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:62300279T>A	ENST00000378024.4	-	5	1884	c.1610A>T	c.(1609-1611)aAa>aTa	p.K537I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	537					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)				TCTGGAGCCTTTAAGTGCCAC	0.512																																					p.K537I		.											AHNAK,NS,carcinoma,0,1	AHNAK	0	0			c.A1610T						.						111	120	117					11																	62300279		2202	4299	6501	SO:0001583	missense	79026	exon5			GAGCCTTTAAGTG	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.1610A>T	11.37:g.62300279T>A	ENSP00000367263:p.Lys537Ile	12	0		26	2	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.859929	0.51482	.	.	ENSG00000124942	ENST00000378024	T	0.00682	5.86	4.76	3.55	0.40652	.	2.113380	0.02361	N	0.076860	T	0.06781	0.0173	M	0.89163	3.01	0.21147	N	0.999777	D	0.76494	0.999	D	0.91635	0.999	T	0.33343	-0.9872	10	0.41790	T	0.15	-2.4238	11.192	0.48690	0.0:0.0:0.1523:0.8477	.	537	Q09666	AHNK_HUMAN	I	537	ENSP00000367263:K537I	ENSP00000367263:K537I	K	-	2	0	AHNAK	62056855	0.996000	0.38824	0.914000	0.36105	0.860000	0.49131	2.318000	0.43779	1.916000	0.55485	0.454000	0.30748	AAA	.		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62300279	T	A	62300279	3	1	15	1	0	0	0	0	1	0	0	0	414	1841	64	5	16182	5	AHNAK	11	62300279	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	2882014	62300279	72706237	105	2078											
ODZ4	26011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	78498091	78498091	+	Silent	SNP	G	G	A	rs376356209	byFrequency	TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:78498091G>A	ENST00000278550.7	-	16	2679	c.2217C>T	c.(2215-2217)tgC>tgT	p.C739C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	739	EGF-like 6. {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)										TGCCCCCTACGCACACGCCAT	0.701													G|||	2	0.000399361	8e-04	0	5008	,	,		14414	0.001		0	False		,,,				2504	0				p.C739C		.											.	.	.	0			c.C2217T						.	G		0,4040		0,0,2020	6	8	8		2217	1.1	0.9	11		8	1,8167		0,1,4083	no	coding-synonymous	ODZ4	NM_001098816.2		0,1,6103	AA,AG,GG		0.0122,0.0,0.0082		739/2770	78498091	1,12207	2020	4084	6104	SO:0001819	synonymous_variant	26011	exon16			CCCTACGCACACG	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.2217C>T	11.37:g.78498091G>A		33	0		34	12	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742175	0.03088	0.0	1.22E-4	ENSG00000149256	ENST00000533525	.	.	.	5.07	1.07	0.20283	.	.	.	.	.	T	0.65821	0.2728	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60372	-0.7276	4	.	.	.	.	12.7952	0.57556	0.3655:0.0:0.6345:0.0	.	.	.	.	V	53	.	.	A	-	2	0	ODZ4	78175739	0.951000	0.32395	0.930000	0.37139	0.021000	0.10359	0.230000	0.17852	-0.147000	0.11254	-2.069000	0.00389	GCG	.		0.701	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78498091	G	A	78498091	2	1	15	1	0	0	0	0	0	0	0	1	10876	1079	38	1		1	ODZ4	11	78498091	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	16197812	78498091	56508425	106	2079											
GRM5	2915	hgsc.bcm.edu;bcgsc.ca	37	11	88323785	88323785	+	Silent	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:88323785G>T	ENST00000305447.4	-	6	1823	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	GRM5_ENST00000455756.2_Silent_p.P558P|GRM5_ENST00000393297.1_Silent_p.P558P|GRM5_ENST00000305432.5_Silent_p.P558P|GRM5_ENST00000418177.2_Silent_p.P558P	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	558					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)	GATCATCAGTGGGCCAAGACC	0.468																																					p.P558P		.											.	.	.	0			c.C1674A						.						128	98	108					11																	88323785		2201	4299	6500	SO:0001819	synonymous_variant	2915	exon7			ATCAGTGGGCCAA	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.1674C>A	11.37:g.88323785G>T		35	0		51	4	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																			.		0.468	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		T	88323785	G	T	88323785	2	4	15	1	0	0	0	0	0	0	0	1	6827	1335	47	3		3	GRM5	11	88323785	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	9825694	88323785	46682731	107	2080											
USP28	57646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	113674003	113674003	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:113674003C>A	ENST00000003302.4	-	23	2807	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	USP28_ENST00000545540.1_Splice_Site_p.K756N|USP28_ENST00000260188.5_Splice_Site_p.K881N|USP28_ENST00000544967.1_Splice_Site_p.K589N	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	913					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTCTTGGTACCTTAGAAAAA	0.483																																					p.K913N	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	.											.	.	.	0			c.G2739T						.						52	55	54					11																	113674003		2201	4296	6497	SO:0001630	splice_region_variant	57646	exon23			TTGGTACCTTAGA	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2739-1G>T	11.37:g.113674003C>A		87	0		67	36	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831661	0.50845	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.49139	1.3;1.37;0.79;1.37	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	L	0.48642	1.525	0.49582	D	0.999804	D;B;D	0.71674	0.989;0.103;0.998	P;B;P	0.62885	0.797;0.034;0.908	T	0.49978	-0.8881	10	0.34782	T	0.22	.	10.3107	0.43706	0.0:0.8489:0.0:0.1511	.	756;913;589	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	N	913;881;589;756	ENSP00000003302:K913N;ENSP00000260188:K881N;ENSP00000442431:K589N;ENSP00000444991:K756N	ENSP00000003302:K913N	K	-	3	2	USP28	113179213	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.397000	0.44477	2.641000	0.89580	0.563000	0.77884	AAG	.		0.483	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Missense_Mutation	A	113674003	C	A	113674003	5	1	15	1	0	0	0	0	0	0	1	0	17107	521	18	3	506	3	USP28	11	113674003	Splice_Site	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	25350218	113674003	21332513	108	2081											
SRPR	6734	hgsc.bcm.edu	37	11	126134929	126134929	+	Missense_Mutation	SNP	G	G	T	rs142997401		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:126134929G>T	ENST00000332118.6	-	11	1604	c.1450C>A	c.(1450-1452)Cgc>Agc	p.R484S	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.R456S	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	484					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)		ACCATGGTGCGGCCACCATGC	0.567																																					p.R484S		.											SRPR,NS,carcinoma,0,1	SRPR	0	0			c.C1450A						.						65	59	61					11																	126134929		2201	4299	6500	SO:0001583	missense	6734	exon11			TGGTGCGGCCACC	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.1450C>A	11.37:g.126134929G>T	ENSP00000328023:p.Arg484Ser	46	0		44	2	NM_003139	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178730	0.94846	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.106362	0.64402	D	0.000003	T	0.68430	0.3000	L	0.36672	1.1	0.80722	D	1	P;P	0.42973	0.796;0.796	P;P	0.53593	0.73;0.73	T	0.70360	-0.4893	9	0.72032	D	0.01	-9.2626	19.0619	0.93096	0.0:0.0:1.0:0.0	.	456;484	E9PJS4;P08240	.;SRPR_HUMAN	S	484;456	.	ENSP00000328023:R484S	R	-	1	0	SRPR	125640139	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.562000	0.82300	2.744000	0.94065	0.650000	0.86243	CGC	.		0.567	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		T	126134929	G	T	126134929	3	4	15	1	0	0	0	0	1	0	0	0	15209	1116	39	2	482	2	SRPR	11	126134929	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	12460926	126134929	8871587	109	2082											
SRPR	6734	hgsc.bcm.edu	37	11	126135636	126135636	+	Missense_Mutation	SNP	G	G	T	rs565989865		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr11:126135636G>T	ENST00000332118.6	-	9	1288	c.1134C>A	c.(1132-1134)ttC>ttA	p.F378L	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.F350L	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	378					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)		ACTTACTGCTGAACGTCCCCA	0.473																																					p.F378L		.											SRPR,NS,carcinoma,0,1	SRPR	0	0			c.C1134A						.						134	102	113					11																	126135636		2201	4299	6500	SO:0001583	missense	6734	exon9			ACTGCTGAACGTC	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.1134C>A	11.37:g.126135636G>T	ENSP00000328023:p.Phe378Leu	18	0		31	2	NM_003139	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559122	0.65538	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	3.22	0.36961	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.80616	2.505	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.70016	0.967;0.967	T	0.72616	-0.4239	9	0.51188	T	0.08	-13.3663	8.1058	0.30885	0.2629:0.0:0.7371:0.0	.	350;378	E9PJS4;P08240	.;SRPR_HUMAN	L	378;350	.	ENSP00000328023:F378L	F	-	3	2	SRPR	125640846	1.000000	0.71417	0.999000	0.59377	0.541000	0.35023	1.075000	0.30716	1.423000	0.47198	0.655000	0.94253	TTC	.		0.473	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		T	126135636	G	T	126135636	3	4	15	1	0	0	0	0	1	0	0	0	15209	1281	45	3	806	3	SRPR	11	126135636	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	707	126135636	8870880	110	2083											
CD163L1	283316	bcgsc.ca	37	12	7519849	7519849	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr12:7519849T>C	ENST00000313599.3	-	18	4319	c.4262A>G	c.(4261-4263)cAt>cGt	p.H1421R	CD163L1_ENST00000416109.2_Missense_Mutation_p.H1431R|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1421						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						TCTTGTCCCATGTGGGTCCTC	0.512																																					p.H1421R													.	CD163L1	238	0			c.A4262G						.						69	61	64					12																	7519849		2203	4300	6503	SO:0001583	missense	283316	exon18			GTCCCATGTGGGT	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.4262A>G	12.37:g.7519849T>C	ENSP00000315945:p.His1421Arg	31	0		42	4	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	6.006	0.369598	0.11352	.	.	ENSG00000177675	ENST00000313599;ENST00000416109	T;T	0.01304	5.03;5.03	1.93	-2.3	0.06785	.	.	.	.	.	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B;P	0.49185	0.329;0.92	B;B	0.44224	0.038;0.444	T	0.49916	-0.8888	9	0.23891	T	0.37	.	5.1907	0.15209	0.0:0.4004:0.0:0.5996	.	1431;1421	E7EVK4;Q9NR16	.;C163B_HUMAN	R	1421;1431	ENSP00000315945:H1421R;ENSP00000393474:H1431R	ENSP00000315945:H1421R	H	-	2	0	CD163L1	7411116	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.411000	0.21115	-0.668000	0.05296	-0.375000	0.07067	CAT	.		0.512	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		C	7519849	T	C	7519849	3	2	15	1	0	0	0	0	1	0	0	0	2975	1464	51	4	107	4	CD163L1	12	7519849	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09		7519849	126332046	111	2084											
PPFIBP1	8496	hgsc.bcm.edu	37	12	27832995	27832995	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr12:27832995G>T	ENST00000318304.8	+	20	2196		c.e20+1		PPFIBP1_ENST00000542629.1_Splice_Site|PPFIBP1_ENST00000537927.1_Splice_Site|PPFIBP1_ENST00000228425.6_Splice_Site	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)						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)					AGTCTAACAGGTAAGAAGAGC	0.478																																					.		.											.	.	.	0			c.1454+1G>T						.						67	73	71					12																	27832995		2203	4300	6503	SO:0001630	splice_region_variant	8496	exon18			TAACAGGTAAGAA	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.1913+1G>T	12.37:g.27832995G>T		62	0		87	4	NM_001198915	O75336|Q86X70|Q9NY03|Q9ULJ0	Splice_Site	SNP	ENST00000318304.8	37	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218870	0.58560	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9003	0.96983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIBP1	27724262	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	9.029000	0.93718	2.808000	0.96608	0.655000	0.94253	.	.		0.478	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	Intron	T	27832995	G	T	27832995	5	4	15	1	0	0	0	0	0	0	1	0	12352	1275	44	3	2012	3	PPFIBP1	12	27832995	Splice_Site	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	20313146	27832995	106018900	112	2085											
GXYLT1	283464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	42512815	42512815	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr12:42512815C>G	ENST00000398675.3	-	3	705	c.473G>C	c.(472-474)aGc>aCc	p.S158T	GXYLT1_ENST00000280876.6_Missense_Mutation_p.S127T	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	158					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						GCCTTTAAAGCTATGATGTAG	0.323																																					p.S158T		.											.	.	.	0			c.G473C						.						70	63	65					12																	42512815		1854	4093	5947	SO:0001583	missense	283464	exon3			TTAAAGCTATGAT	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.473G>C	12.37:g.42512815C>G	ENSP00000381666:p.Ser158Thr	60	0		100	40	NM_173601	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886608	0.33348	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.22134	1.97;1.97	5.77	4.88	0.63580	.	0.199524	0.56097	D	0.000030	T	0.22627	0.0546	M	0.71581	2.175	0.32128	N	0.587187	B;B	0.33345	0.356;0.409	B;B	0.36030	0.138;0.216	T	0.17258	-1.0375	10	0.10636	T	0.68	-5.4156	9.4303	0.38606	0.0:0.7862:0.0:0.2138	.	127;158	Q4G148-2;Q4G148	.;GXLT1_HUMAN	T	158;127	ENSP00000381666:S158T;ENSP00000280876:S127T	ENSP00000280876:S127T	S	-	2	0	GXYLT1	40799082	0.994000	0.37717	0.996000	0.52242	0.963000	0.63663	2.067000	0.41461	1.445000	0.47624	0.591000	0.81541	AGC	.		0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		G	42512815	C	G	42512815	3	3	15	1	0	0	0	0	1	0	0	0	6930	797	28	5	873	5	GXYLT1	12	42512815	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	14679820	42512815	91339080	113	2086											
APAF1	317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	99106135	99106135	+	Silent	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr12:99106135T>C	ENST00000551964.1	+	21	3616	c.2880T>C	c.(2878-2880)acT>acC	p.T960T	APAF1_ENST00000547045.1_Silent_p.T917T|APAF1_ENST00000549007.1_Silent_p.T917T|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.T917T|APAF1_ENST00000359972.2_Silent_p.T906T|APAF1_ENST00000550527.1_Silent_p.T949T|APAF1_ENST00000357310.1_Silent_p.T917T	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	960					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATTATCTGACTGAAGCTCAAG	0.388																																					p.T960T		.											.	.	.	0			c.T2880C						.						127	112	117					12																	99106135		2203	4300	6503	SO:0001819	synonymous_variant	317	exon21			TCTGACTGAAGCT	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2880T>C	12.37:g.99106135T>C		31	0		27	18	NM_181861	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																			.		0.388	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		C	99106135	T	C	99106135	2	2	15	1	0	0	0	0	0	0	0	1	755	1567	55	4		4	APAF1	12	99106135	Silent	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	56593320	99106135	34745760	114	2087											
SLC17A8	246213	bcgsc.ca	37	12	100774620	100774620	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr12:100774620G>T	ENST00000323346.5	+	2	556	c.243G>T	c.(241-243)atG>atT	p.M81I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.M81I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	81					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGCTATCATGAGTGGGCTGG	0.527																																					p.M81I													.	SLC17A8	89	0			c.G243T						.						202	182	189					12																	100774620		2203	4300	6503	SO:0001583	missense	246213	exon2			TATCATGAGTGGG	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.243G>T	12.37:g.100774620G>T	ENSP00000316909:p.Met81Ile	49	0		45	4	NM_001145288	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184213	0.57800	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.56941	0.43;0.43	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.102276	0.64402	D	0.000001	T	0.54095	0.1837	L	0.45137	1.4	0.58432	D	0.999999	B;B	0.31752	0.018;0.338	B;B	0.38755	0.057;0.281	T	0.57653	-0.7774	10	0.72032	D	0.01	.	18.8896	0.92392	0.0:0.0:1.0:0.0	.	81;81	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	81	ENSP00000316909:M81I;ENSP00000376715:M81I	ENSP00000316909:M81I	M	+	3	0	SLC17A8	99298751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.053000	0.71089	2.466000	0.83321	0.591000	0.81541	ATG	.		0.527	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		T	100774620	G	T	100774620	3	4	15	1	0	0	0	0	1	0	0	0	14468	1290	45	3	249	3	SLC17A8	12	100774620	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	1668485	100774620	33077275	115	2088											
EP400	57634	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	132530051	132530051	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr12:132530051G>T	ENST00000333577.4	+	39	7189	c.7080G>T	c.(7078-7080)gaG>gaT	p.E2360D	EP400_ENST00000332482.4_Missense_Mutation_p.E2287D|EP400_ENST00000330386.6_Missense_Mutation_p.E2243D|EP400_ENST00000389561.2_Missense_Mutation_p.E2324D|EP400_ENST00000389562.2_Missense_Mutation_p.E2323D			Q96L91	EP400_HUMAN	E1A binding protein p400	2360	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				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)		CCACAGCTGAGCCTGGTCAAG	0.562																																					p.E2324D		.											.	.	.	0			c.G6972T						.						64	63	63					12																	132530051		2203	4300	6503	SO:0001583	missense	57634	exon38			AGCTGAGCCTGGT	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.7080G>T	12.37:g.132530051G>T	ENSP00000333602:p.Glu2360Asp	23	0		26	4	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	7.906	0.735497	0.15574	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.92199	-2.98;-2.97;-2.99;-2.98;-2.97	5.61	2.71	0.32032	.	0.049151	0.85682	N	0.000000	D	0.88937	0.6573	M	0.69248	2.105	0.30894	N	0.730033	B;B;B	0.18863	0.031;0.031;0.031	B;B;B	0.25140	0.058;0.058;0.058	D	0.83881	0.0279	10	0.72032	D	0.01	.	4.561	0.12160	0.2982:0.0:0.5578:0.1439	.	2324;2243;2323	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	D	2360;2324;2323;2287;2243;2324	ENSP00000333602:E2360D;ENSP00000374212:E2324D;ENSP00000374213:E2323D;ENSP00000331737:E2287D;ENSP00000330620:E2243D	ENSP00000330620:E2243D	E	+	3	2	EP400	131096004	0.528000	0.26314	0.148000	0.22405	0.136000	0.21042	0.869000	0.27996	0.284000	0.22305	0.655000	0.94253	GAG	.		0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132530051	G	T	132530051	3	4	15	1	0	0	0	0	1	0	0	0	5165	962	34	3	7115	3	EP400	12	132530051	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	31755431	132530051	1321844	116	2089											
FAM48A	55578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	37595675	37595675	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr13:37595675G>A	ENST00000350612.6	-	21	1946	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	SUPT20H_ENST00000356185.3_Missense_Mutation_p.P577S|SUPT20H_ENST00000464744.1_Missense_Mutation_p.P577S|SUPT20H_ENST00000475892.1_Missense_Mutation_p.P655S|SUPT20H_ENST00000360252.4_Missense_Mutation_p.P577S	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	576					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										ATTCCTGCAGGAGTTATGGCA	0.517																																					p.P577S		.											.	.	.	0			c.C1729T						.						59	51	54					13																	37595675		2203	4300	6503	SO:0001583	missense	55578	exon21			CTGCAGGAGTTAT	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1726C>T	13.37:g.37595675G>A	ENSP00000218894:p.Pro576Ser	31	0		22	15	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602702	0.87157	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	T;T;T;T;T	0.56275	0.52;0.47;1.04;0.52;0.52	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.69479	0.922;0.921;0.964;0.921;0.964	T	0.73994	-0.3807	10	0.49607	T	0.09	-13.5477	19.888	0.96917	0.0:0.0:1.0:0.0	.	655;577;577;576;576	E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.;.;.;FA48A_HUMAN;.	S	577;655;576;577;576;577	ENSP00000353388:P577S;ENSP00000417510:P655S;ENSP00000218894:P576S;ENSP00000348512:P577S;ENSP00000419754:P577S	ENSP00000218894:P576S	P	-	1	0	FAM48A	36493675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.169000	0.50809	2.720000	0.93068	0.591000	0.81541	CCT	.		0.517	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		A	37595675	G	A	37595675	3	1	15	1	0	0	0	0	1	0	0	0	5594	1174	41	3	637	3	FAM48A	13	37595675	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		37595675	77574203	117	2090											
DOCK9	23348	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	99554100	99554100	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr13:99554100C>T	ENST00000376460.1	-	13	1515	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	DOCK9_ENST00000442173.1_Missense_Mutation_p.E479K|DOCK9_ENST00000448493.2_Missense_Mutation_p.E491K|DOCK9_ENST00000339416.2_Missense_Mutation_p.E480K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	480					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)					AGGACTTTTTCAATTCTGGCC	0.413																																					p.E480K		.											.	.	.	0			c.G1438A						.						60	56	57					13																	99554100		1863	4098	5961	SO:0001583	missense	23348	exon13			CTTTTTCAATTCT	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.1435G>A	13.37:g.99554100C>T	ENSP00000365643:p.Glu479Lys	50	0		68	8	NM_001130049	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522042	0.96416	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;1.0	D;D;D;D;D	0.85130	0.987;0.979;0.992;0.997;0.994	T	0.76953	-0.2768	9	.	.	.	.	19.6436	0.95767	0.0:1.0:0.0:0.0	.	480;479;479;479;480	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	K	479;480;480;480;479;480;491;479	ENSP00000365643:E479K;ENSP00000341086:E480K;ENSP00000401958:E491K;ENSP00000406883:E479K	.	E	-	1	0	DOCK9	98352101	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.410000	0.80065	2.712000	0.92718	0.650000	0.86243	GAA	.		0.413	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		T	99554100	C	T	99554100	3	4	15	1	0	0	0	0	1	0	0	0	4708	835	29	3	5008	3	DOCK9	13	99554100	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	61958425	99554100	15615778	118	2091											
TGM1	7051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	24729730	24729730	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr14:24729730G>T	ENST00000206765.6	-	4	806	c.683C>A	c.(682-684)tCa>tAa	p.S228*	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	228					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCAGCGTCTGATTGTGTGCG	0.592																																					p.S228X		.											.	.	.	0			c.C683A						.						181	155	164					14																	24729730		2203	4300	6503	SO:0001587	stop_gained	7051	exon4			GCGTCTGATTGTG	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.683C>A	14.37:g.24729730G>T	ENSP00000206765:p.Ser228*	33	0		23	16	NM_000359	B4DWR7|Q197M4	Nonsense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598157	0.66332	.	.	ENSG00000092295	ENST00000206765	.	.	.	6.02	3.07	0.35406	.	0.887861	0.09011	U	0.861569	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-0.5526	11.0411	0.47831	0.0713:0.5255:0.4031:0.0	.	.	.	.	X	228	.	ENSP00000206765:S228X	S	-	2	0	TGM1	23799570	0.000000	0.05858	0.003000	0.11579	0.089000	0.18198	0.313000	0.19415	0.374000	0.24650	0.655000	0.94253	TCA	.		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		T	24729730	G	T	24729730	4	4	15	1	0	0	0	0	0	1	0	0	15876	1294	45	3	1818	3	TGM1	14	24729730	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		24729730	82619810	119	2092											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36123575	36123575	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr14:36123575G>T	ENST00000389698.3	-	29	4477	c.4087C>A	c.(4087-4089)Caa>Aaa	p.Q1363K	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.Q1410K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q1363K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q1376K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1363	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				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						TTACTTACTTGAATAATTTTC	0.274																																					p.Q1363K		.											.	.	.	0			c.C4087A						.						37	38	37					14																	36123575		2203	4296	6499	SO:0001583	missense	253959	exon29			TTACTTGAATAAT	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.4087C>A	14.37:g.36123575G>T	ENSP00000374348:p.Gln1363Lys	22	0		48	4	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194880	0.58017	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.93	5.93	0.95920	.	0.056727	0.64402	D	0.000001	T	0.51924	0.1703	N	0.24115	0.695	0.44995	D	0.998018	B;B;B;B	0.29988	0.264;0.107;0.141;0.107	B;B;B;B	0.32805	0.153;0.065;0.078;0.041	T	0.51419	-0.8708	10	0.48119	T	0.1	-11.9849	15.7803	0.78255	0.0:0.1355:0.8645:0.0	.	1410;1376;1363;1363	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	1363;1363;1363;1410;1376;1410	ENSP00000374348:Q1363K;ENSP00000302647:Q1363K;ENSP00000258840:Q1410K;ENSP00000371803:Q1376K;ENSP00000451877:Q1410K	ENSP00000258840:Q1410K	Q	-	1	0	RALGAPA1	35193326	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.547000	0.60712	2.812000	0.96745	0.555000	0.69702	CAA	.		0.274	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		T	36123575	G	T	36123575	3	4	15	1	0	0	0	0	1	0	0	0	13058	1299	45	3	2224	3	RALGAPA1	14	36123575	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	11393845	36123575	71225965	120	2093											
ADAM20	8748	hgsc.bcm.edu	37	14	70990328	70990328	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr14:70990328G>T	ENST00000256389.3	-	2	1541	c.1297C>A	c.(1297-1299)Caa>Aaa	p.Q433K	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	383	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCCCAATATTGGGCATAACTG	0.423																																					p.Q433K		.											ADAM20,NS,carcinoma,0,1	ADAM20	0	0			c.C1297A						.						240	134	170					14																	70990328		2203	4300	6503	SO:0001583	missense	8748	exon2			AATATTGGGCATA	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1297C>A	14.37:g.70990328G>T	ENSP00000256389:p.Gln433Lys	65	0		47	2	NM_003814	Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	9.147	1.015392	0.19355	.	.	ENSG00000134007	ENST00000256389	T	0.63096	-0.02	3.99	-7.97	0.01139	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	3.213270	0.01609	U	0.022446	T	0.63486	0.2515	M	0.77616	2.38	0.09310	N	1	B	0.20780	0.048	B	0.29440	0.102	T	0.51293	-0.8724	10	0.31617	T	0.26	.	12.5035	0.55968	0.0:0.2137:0.6491:0.1371	.	383	O43506	ADA20_HUMAN	K	433	ENSP00000256389:Q433K	ENSP00000256389:Q433K	Q	-	1	0	ADAM20	70060081	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-3.054000	0.00626	-2.339000	0.00626	0.460000	0.39030	CAA	.		0.423	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			T	70990328	G	T	70990328	3	4	15	1	0	0	0	0	1	0	0	0	242	1357	47	3	1037	3	ADAM20	14	70990328	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	34866753	70990328	36359212	121	2094											
CCDC88C	440193	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	14	91883098	91883098	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr14:91883098G>T	ENST00000389857.6	-	2	231	c.145C>A	c.(145-147)Caa>Aaa	p.Q49K	CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.Q49K|CCDC88C_ENST00000389856.5_Missense_Mutation_p.Q41K|RP11-895M11.3_ENST00000557524.1_lincRNA	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	49					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)				AGCATAATTTGGTTCAAAAAG	0.478																																					p.Q49K		.											.	.	.	0			c.C145A						.						56	53	54					14																	91883098		1935	4126	6061	SO:0001583	missense	440193	exon2			TAATTTGGTTCAA		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.145C>A	14.37:g.91883098G>T	ENSP00000374507:p.Gln49Lys	34	0		38	4	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813277	0.32053	.	.	ENSG00000015133	ENST00000389857;ENST00000541408;ENST00000389856;ENST00000553403	T;T;T	0.43688	2.0;0.94;0.94	5.18	4.16	0.48862	.	0.251811	0.20735	U	0.086646	T	0.22044	0.0531	N	0.05383	-0.06	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.06481	-1.0824	10	0.26408	T	0.33	-7.7523	10.4269	0.44385	0.0:0.0:0.6309:0.3691	.	49;49	Q9P219;G3V3S0	DAPLE_HUMAN;.	K	49;13;41;49	ENSP00000374507:Q49K;ENSP00000374506:Q41K;ENSP00000451392:Q49K	ENSP00000374506:Q41K	Q	-	1	0	CCDC88C	90952851	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.281000	0.65609	2.569000	0.86673	0.462000	0.41574	CAA	.		0.478	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		T	91883098	G	T	91883098	3	4	15	1	0	0	0	0	1	0	0	0	2872	1357	47	3	6057	3	CCDC88C	14	91883098	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	20892770	91883098	15466442	122	2095											
KIAA1409	57578	hgsc.bcm.edu;bcgsc.ca	37	14	94084687	94084687	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr14:94084687C>T	ENST00000393151.2	+	29	4374	c.4374C>T	c.(4372-4374)agC>agT	p.S1458S	UNC79_ENST00000555664.1_Silent_p.S1458S|UNC79_ENST00000553484.1_Silent_p.S1480S|UNC79_ENST00000256339.4_Silent_p.S1281S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1458					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						GCAGATACAGCGAAAAAGAAA	0.393																																					p.S1281S		.											.	.	.	0			c.C3843T						.						80	71	74					14																	94084687		2203	4300	6503	SO:0001819	synonymous_variant	57578	exon29			ATACAGCGAAAAA	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.4374C>T	14.37:g.94084687C>T		81	0		63	4	NM_020818	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																				.		0.393	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94084687	C	T	94084687	2	4	15	1	0	0	0	0	0	0	0	1	8257	767	27	1		1	KIAA1409	14	94084687	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	2201589	94084687	13264853	123	2096											
SCG5	6447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	32988766	32988766	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr15:32988766A>T	ENST00000300175.4	+	6	705	c.595A>T	c.(595-597)Aag>Tag	p.K199*	SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000413748.2_Nonsense_Mutation_p.K198*|SCG5_ENST00000494364.1_Nonsense_Mutation_p.K180*|SCG5_ENST00000497208.1_Nonsense_Mutation_p.K181*	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	199					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TGTTGCAAAGAAGTCTGTCCC	0.403																																					p.K199X		.											.	.	.	0			c.A595T						.						97	90	92					15																	32988766		1907	4127	6034	SO:0001587	stop_gained	6447	exon6			GCAAAGAAGTCTG	Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"prohormone convertase chaperone"	173120	"secretory granule, neuroendocrine protein 1 (7B2 protein)"	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.595A>T	15.37:g.32988766A>T	ENSP00000300175:p.Lys199*	39	0		43	20	NM_001144757	P01164|Q6FHD0|Q9BS38	Nonsense_Mutation	SNP	ENST00000300175.4	37	CCDS45207.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307608	0.81247	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000494364;ENST00000497208	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0072	0.71522	1.0:0.0:0.0:0.0	.	.	.	.	X	199;198;180;181	.	ENSP00000300175:K199X	K	+	1	0	SCG5	30776058	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.606000	0.82863	2.131000	0.65755	0.460000	0.39030	AAG	.		0.403	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355438.1	NM_003020		T	32988766	A	T	32988766	4	4	15	1	0	0	0	0	0	1	0	0	13938	247	9	5	613	5	SCG5	15	32988766	Nonsense_Mutation	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09		32988766	69542626	124	2097											
SLC12A6	9990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	34628712	34628712	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr15:34628712C>T	ENST00000354181.3	-	2	662	c.170G>A	c.(169-171)aGt>aAt	p.S57N	SLC12A6_ENST00000558667.1_Missense_Mutation_p.S57N|SLC12A6_ENST00000397702.2_De_novo_Start_OutOfFrame|SLC12A6_ENST00000458406.2_De_novo_Start_OutOfFrame|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S57N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.S48N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.S57N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	57					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)	CATAGGCTCACTCCGGCTTGT	0.562																																					p.S57N		.											.	.	.	0			c.G170A						.						65	72	70					15																	34628712		2181	4289	6470	SO:0001583	missense	9990	exon1			GGCTCACTCCGGC	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.170G>A	15.37:g.34628712C>T	ENSP00000346112:p.Ser57Asn	32	0		77	29	NM_133647	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445763	0.63178	.	.	ENSG00000140199	ENST00000397707;ENST00000354181	D	0.84516	-1.86	4.89	4.89	0.63831	.	0.361406	0.27134	N	0.020764	T	0.72803	0.3506	N	0.08118	0	0.80722	D	1	B;B	0.29085	0.232;0.149	B;B	0.28139	0.086;0.039	T	0.70799	-0.4774	10	0.31617	T	0.26	.	16.9856	0.86339	0.0:1.0:0.0:0.0	.	57;57	Q9UHW9-3;Q9UHW9	.;S12A6_HUMAN	N	57;48	ENSP00000380819:S57N	ENSP00000346112:S48N	S	-	2	0	SLC12A6	32416004	1.000000	0.71417	0.798000	0.32154	0.995000	0.86356	6.014000	0.70784	2.540000	0.85666	0.563000	0.77884	AGT	.		0.562	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		T	34628712	C	T	34628712	3	4	15	1	0	0	0	0	1	0	0	0	14432	565	20	3	3504	3	SLC12A6	15	34628712	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	1639946	34628712	67902680	125	2098											
UBR1	197131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	43281074	43281074	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr15:43281074C>A	ENST00000290650.4	-	35	4018	c.3940G>T	c.(3940-3942)Gat>Tat	p.D1314Y	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1314					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)		ACTCGAGGATCCCTTTCATCA	0.398																																					p.D1314Y		.											.	.	.	0			c.G3940T						.						110	110	110					15																	43281074		2203	4299	6502	SO:0001583	missense	197131	exon35			GAGGATCCCTTTC		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.3940G>T	15.37:g.43281074C>A	ENSP00000290650:p.Asp1314Tyr	45	0		78	36	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024211	0.54683	.	.	ENSG00000159459	ENST00000290650	T	0.59638	0.25	5.07	4.15	0.48705	.	0.162296	0.56097	D	0.000032	T	0.73289	0.3568	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.77744	-0.2473	10	0.87932	D	0	-24.1218	13.2721	0.60167	0.0:0.9244:0.0:0.0756	.	1314	Q8IWV7	UBR1_HUMAN	Y	1314	ENSP00000290650:D1314Y	ENSP00000290650:D1314Y	D	-	1	0	UBR1	41068366	0.977000	0.34250	0.856000	0.33681	0.575000	0.36095	2.446000	0.44908	1.352000	0.45808	0.655000	0.94253	GAT	.		0.398	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		A	43281074	C	A	43281074	3	1	15	1	0	0	0	0	1	0	0	0	16950	855	30	3	1361	3	UBR1	15	43281074	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	8652362	43281074	59250318	126	2099											
MYO5C	55930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	52517156	52517156	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr15:52517156G>A	ENST00000261839.7	-	28	3549	c.3388C>T	c.(3388-3390)Cat>Tat	p.H1130Y		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1130						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)		TCATTTAAATGTTCCAGATCT	0.343																																					p.H1130Y		.											.	.	.	0			c.C3388T						.						120	114	116					15																	52517156		1826	4075	5901	SO:0001583	missense	55930	exon28			TTAAATGTTCCAG	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.3388C>T	15.37:g.52517156G>A	ENSP00000261839:p.His1130Tyr	49	0		123	44	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746149	0.30955	.	.	ENSG00000128833	ENST00000261839	T	0.16196	2.36	5.89	5.89	0.94794	.	0.320114	0.34088	N	0.004277	T	0.10981	0.0268	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05852	-1.0860	10	0.02654	T	1	.	15.0262	0.71671	0.0:0.0:0.8578:0.1422	.	1130	Q9NQX4	MYO5C_HUMAN	Y	1130	ENSP00000261839:H1130Y	ENSP00000261839:H1130Y	H	-	1	0	MYO5C	50304448	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	4.397000	0.59690	2.783000	0.95769	0.655000	0.94253	CAT	.		0.343	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52517156	G	A	52517156	3	1	15	1	0	0	0	0	1	0	0	0	10118	1377	48	3	1896	3	MYO5C	15	52517156	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	9236082	52517156	50014236	127	2100											
ZSCAN2	54993	hgsc.bcm.edu	37	15	85164298	85164298	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr15:85164298C>T	ENST00000448803.2	+	3	1164	c.872C>T	c.(871-873)gCc>gTc	p.A291V	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A290V|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.A141V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A291V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	291					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)		AGCCGGAGTGCCAACCTCATA	0.522																																					p.A291V		.											ZSCAN2,NS,lymphoid_neoplasm,0,1	ZSCAN2	0	0			c.C872T						.						58	59	59					15																	85164298		2203	4299	6502	SO:0001583	missense	54993	exon3			GGAGTGCCAACCT	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.872C>T	15.37:g.85164298C>T	ENSP00000410198:p.Ala291Val	30	0		47	2	NM_181877	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457075	0.63401	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.15372	2.43;2.43;3.14;2.43	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000027	T	0.09598	0.0236	N	0.04355	-0.22	0.24854	N	0.99239	P;D	0.53745	0.823;0.962	B;B	0.43018	0.145;0.405	T	0.23190	-1.0195	9	.	.	.	-24.104	15.6428	0.77020	0.0:1.0:0.0:0.0	.	291;291	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	V	291;291;141;290;272	ENSP00000410198:A291V;ENSP00000445451:A291V;ENSP00000351257:A141V;ENSP00000325123:A290V	.	A	+	2	0	ZSCAN2	82965302	0.124000	0.22315	0.367000	0.25926	0.989000	0.77384	2.172000	0.42463	2.355000	0.79922	0.655000	0.94253	GCC	.		0.522	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		T	85164298	C	T	85164298	3	4	15	1	0	0	0	0	1	0	0	0	18279	739	26	3	968	3	ZSCAN2	15	85164298	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	32647142	85164298	17367094	128	2101											
NTRK3	4916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	88678415	88678415	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr15:88678415C>G	ENST00000360948.2	-	9	1282	c.1121G>C	c.(1120-1122)gGc>gCc	p.G374A	NTRK3_ENST00000540489.2_Missense_Mutation_p.G374A|NTRK3_ENST00000557856.1_Missense_Mutation_p.G374A|NTRK3_ENST00000542733.2_Missense_Mutation_p.G276A|NTRK3_ENST00000357724.2_Missense_Mutation_p.G374A|NTRK3_ENST00000394480.2_Missense_Mutation_p.G374A|NTRK3_ENST00000558676.1_Missense_Mutation_p.G374A|NTRK3_ENST00000317501.3_Missense_Mutation_p.G374A|NTRK3_ENST00000355254.2_Missense_Mutation_p.G374A	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	374	Ig-like C2-type 2.				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)			GGTATAGTTGCCATTGTTGTA	0.542			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																											p.G374A		.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	.	.	.	0			c.G1121C						.						258	232	241					15																	88678415		2201	4299	6500	SO:0001583	missense	4916	exon10			TAGTTGCCATTGT	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.1121G>C	15.37:g.88678415C>G	ENSP00000354207:p.Gly374Ala	43	0		103	34	NM_001243101	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647695	0.87958	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91851	0.7421	M	0.91768	3.24	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;0.999;1.0;1.0;0.999;0.999	D	0.93739	0.7048	10	0.87932	D	0	.	17.3435	0.87304	0.0:1.0:0.0:0.0	.	276;374;374;374;374;374	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	A	374;374;374;374;276;374;374	ENSP00000377990:G374A;ENSP00000354207:G374A;ENSP00000350356:G374A;ENSP00000347397:G374A;ENSP00000437773:G276A;ENSP00000444673:G374A;ENSP00000318328:G374A	ENSP00000318328:G374A	G	-	2	0	NTRK3	86479419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.459000	0.80802	2.324000	0.78689	0.563000	0.77884	GGC	.		0.542	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				G	88678415	C	G	88678415	3	3	15	1	0	0	0	0	1	0	0	0	10747	739	26	5	1704	5	NTRK3	15	88678415	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	3514117	88678415	13852977	129	2102											
KIF7	374654	broad.mit.edu	37	15	90196148	90196148	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr15:90196148G>T	ENST00000394412.3	-	2	90	c.14C>A	c.(13-15)gCt>gAt	p.A5D		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	5					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)			CAGCCTCTGAGCCTCCAGCCC	0.662																																					p.A5D													.	KIF7	130	0			c.C14A						.						5	8	7					15																	90196148		654	1539	2193	SO:0001583	missense	374654	exon2			CTCTGAGCCTCCA	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.14C>A	15.37:g.90196148G>T	ENSP00000377934:p.Ala5Asp	12	0		18	3	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035193	0.75617	.	.	ENSG00000166813	ENST00000394412	T	0.71222	-0.55	4.45	4.45	0.53987	.	.	.	.	.	T	0.57607	0.2065	L	0.29908	0.895	0.33356	D	0.571725	P	0.36065	0.535	B	0.31290	0.127	T	0.69235	-0.5198	9	0.42905	T	0.14	.	13.9843	0.64324	0.0:0.0:1.0:0.0	.	5	Q2M1P5	KIF7_HUMAN	D	5	ENSP00000377934:A5D	ENSP00000377934:A5D	A	-	2	0	KIF7	87997152	.	.	1.000000	0.80357	0.879000	0.50718	.	.	2.013000	0.59113	0.655000	0.94253	GCT	.		0.662	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		T	90196148	G	T	90196148	3	4	15	1	0	0	0	0	1	0	0	0	8336	971	34	3	4089	3	KIF7	15	90196148	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	1517733	90196148	12335244	130	2103											
DNAJA3	9093	hgsc.bcm.edu	37	16	4484495	4484495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr16:4484495G>T	ENST00000262375.6	+	2	399	c.322G>T	c.(322-324)Gag>Tag	p.E108*	DNAJA3_ENST00000355296.4_Nonsense_Mutation_p.E108*|DNAJA3_ENST00000572139.1_3'UTR|DNAJA3_ENST00000431375.2_Intron	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	108	J.				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						CAGCCAGAAAGAGATCAAGAA	0.428																																					p.E108X		.											.	.	.	0			c.G322T						.						169	157	161					16																	4484495		2197	4300	6497	SO:0001587	stop_gained	9093	exon2			CAGAAAGAGATCA	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.322G>T	16.37:g.4484495G>T	ENSP00000262375:p.Glu108*	48	0		62	4	NM_001135110	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Nonsense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	38	6.671268	0.97751	.	.	ENSG00000103423	ENST00000262375;ENST00000355296	.	.	.	5.2	5.2	0.72013	.	0.232378	0.43579	D	0.000548	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.9504	17.7256	0.88364	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000262375:E108X	E	+	1	0	DNAJA3	4424496	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.682000	0.98655	2.413000	0.81919	0.655000	0.94253	GAG	.		0.428	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			T	4484495	G	T	4484495	4	4	15	1	0	0	0	0	0	1	0	0	4627	943	33	3	328	3	DNAJA3	16	4484495	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		4484495	85870258	131	2104											
SMG1	23049	broad.mit.edu	37	16	18882689	18882689	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr16:18882689T>C	ENST00000446231.2	-	16	2711	c.2299A>G	c.(2299-2301)Aac>Gac	p.N767D	SMG1_ENST00000389467.3_Missense_Mutation_p.N767D|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	767	Interaction with SMG8 and SMG9.				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						GTCTTACTGTTGGCTAAAAGG	0.363																																					p.N767D													.	SMG1	401	0			c.A2299G						.						33	31	31					16																	18882689		1799	4058	5857	SO:0001583	missense	23049	exon16			TACTGTTGGCTAA	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.2299A>G	16.37:g.18882689T>C	ENSP00000402515:p.Asn767Asp	183	0		301	7	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399615	0.83120	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.11604	2.76;2.76	5.36	5.36	0.76844	Armadillo-type fold (1);	0.000000	0.64402	U	0.000017	T	0.14013	0.0339	L	0.44542	1.39	0.41984	D	0.990811	D	0.55172	0.97	P	0.48704	0.587	T	0.10337	-1.0634	10	0.09843	T	0.71	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	767	Q96Q15	SMG1_HUMAN	D	767	ENSP00000402515:N767D;ENSP00000374118:N767D	ENSP00000374118:N767D	N	-	1	0	SMG1	18790190	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.060000	0.71141	2.158000	0.67659	0.454000	0.30748	AAC	.		0.363	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		C	18882689	T	C	18882689	3	2	15	1	0	0	0	0	1	0	0	0	14840	1812	63	4	8878	4	SMG1	16	18882689	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	14398194	18882689	71472064	132	2105											
SPNS1	83985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	28993745	28993745	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr16:28993745G>A	ENST00000311008.11	+	8	1411	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	SPNS1_ENST00000565975.1_Missense_Mutation_p.R390H|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000564277.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.R293H|SPNS1_ENST00000352260.7_Missense_Mutation_p.R271H|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.R272H	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	345					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GAGATCAGCCGCCGGCTCCGC	0.652																																					p.R345H		.											.	.	.	0			c.G1034A						.						63	64	64					16																	28993745		2197	4300	6497	SO:0001583	missense	83985	exon9			TCAGCCGCCGGCT	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1034G>A	16.37:g.28993745G>A	ENSP00000309945:p.Arg345His	27	0		31	9	NM_001142448	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584116	0.65992	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.32	4.32	0.51571	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.136830	0.44902	D	0.000415	T	0.71550	0.3353	M	0.79475	2.455	0.49389	D	0.99978	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.68943	0.921;0.947;0.953;0.961	T	0.74523	-0.3637	10	0.87932	D	0	.	8.0356	0.30491	0.1084:0.0:0.8916:0.0	.	272;271;345;293	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	H	345;293;271;272	ENSP00000309945:R345H;ENSP00000335494:R293H;ENSP00000306050:R271H;ENSP00000318228:R272H	ENSP00000309945:R345H	R	+	2	0	SPNS1	28901246	0.997000	0.39634	1.000000	0.80357	0.531000	0.34715	2.514000	0.45503	2.244000	0.73946	0.462000	0.41574	CGC	.		0.652	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		A	28993745	G	A	28993745	3	1	15	1	0	0	0	0	1	0	0	0	15121	1087	38	1	1064	1	SPNS1	16	28993745	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	10111056	28993745	61361008	133	2106											
PSMB10	5699	hgsc.bcm.edu	37	16	67968568	67968568	+	Silent	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr16:67968568G>T	ENST00000358514.4	-	8	1054	c.717C>A	c.(715-717)ggC>ggA	p.G239G	CTRL_ENST00000576408.1_5'Flank|CTRL_ENST00000574481.1_5'Flank|CTC-479C5.12_ENST00000573493.1_3'UTR	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	239					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)	p.G239G(2)		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)	AGTGGTAGCGGCCAGACCTGG	0.597																																					p.G239G		.											PSMB10,NS,carcinoma,0,2	PSMB10	0	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.C717A						.						111	109	109					16																	67968568		2198	4300	6498	SO:0001819	synonymous_variant	5699	exon8			GTAGCGGCCAGAC	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.717C>A	16.37:g.67968568G>T		43	0		42	2	NM_002801	B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	CCDS10853.1																																																																																			.		0.597	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		T	67968568	G	T	67968568	2	4	15	1	0	0	0	0	0	0	0	1	12717	1190	42	3		3	PSMB10	16	67968568	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	38974823	67968568	22386185	134	2107											
GLG1	2734	hgsc.bcm.edu	37	16	74496020	74496020	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr16:74496020G>T	ENST00000422840.2	-	22	3007	c.3008C>A	c.(3007-3009)cCt>cAt	p.P1003H	Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000447066.2_Missense_Mutation_p.P992H|GLG1_ENST00000205061.5_Missense_Mutation_p.P1003H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1003					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						CTGGAGCTGAGGATCCAGGCG	0.522																																					p.P1003H		.											.,1	.	106	0			c.C3008A						.						74	72	72					16																	74496020		2198	4300	6498	SO:0001583	missense	2734	exon22			AGCTGAGGATCCA		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.3008C>A	16.37:g.74496020G>T	ENSP00000405984:p.Pro1003His	38	0		45	2	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166525	0.94768	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83234	0.5210	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	0.993;0.999;0.996;1.0	P;D;D;D	0.87578	0.889;0.988;0.967;0.998	D	0.84690	0.0722	9	0.87932	D	0	-17.8264	19.6588	0.95855	0.0:0.0:1.0:0.0	.	133;1003;1003;992	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	H	1003;992;1003	.	ENSP00000205061:P1003H	P	-	2	0	GLG1	73053521	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	CCT	.		0.522	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		T	74496020	G	T	74496020	3	4	15	1	0	0	0	0	1	0	0	0	6462	1000	35	3	631	3	GLG1	16	74496020	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	6527452	74496020	15858733	135	2108											
MYH10	4628	hgsc.bcm.edu	37	17	8408136	8408136	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr17:8408136C>T	ENST00000269243.4	-	26	3520	c.3382G>A	c.(3382-3384)Gaa>Aaa	p.E1128K	MYH10_ENST00000396239.1_Missense_Mutation_p.E1149K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1144K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1159K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1128					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						TTCTCGGATTCAAAGTCTTCC	0.468																																					p.E1159K		.											MYH10,NS,carcinoma,0,1	MYH10	0	0			c.G3475A						.						196	184	188					17																	8408136		2203	4300	6503	SO:0001583	missense	4628	exon28			CGGATTCAAAGTC	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.3382G>A	17.37:g.8408136C>T	ENSP00000269243:p.Glu1128Lys	29	0		30	2	NM_001256012	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409163	0.96072	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92737	0.7691	M	0.91300	3.195	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	D;D;D	0.68039	0.955;0.925;0.928	D	0.94261	0.7502	10	0.87932	D	0	.	18.2878	0.90120	0.0:1.0:0.0:0.0	.	1137;1159;1128	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1128;1159;1149;1144	ENSP00000269243:E1128K;ENSP00000353590:E1159K;ENSP00000379539:E1149K;ENSP00000369315:E1144K	ENSP00000269243:E1128K	E	-	1	0	MYH10	8348861	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.609000	0.82925	2.551000	0.86045	0.563000	0.77884	GAA	.		0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			T	8408136	C	T	8408136	3	4	15	1	0	0	0	0	1	0	0	0	10068	835	29	3	2612	3	MYH10	17	8408136	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09		8408136	72787074	136	2109											
NCOR1	9611	hgsc.bcm.edu	37	17	15971432	15971432	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr17:15971432G>T	ENST00000268712.3	-	32	4774	c.4517C>A	c.(4516-4518)aCa>aAa	p.T1506K	NCOR1_ENST00000395851.1_Missense_Mutation_p.T1522K|NCOR1_ENST00000395857.3_Missense_Mutation_p.T90K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1506	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)		AGAAGAAATTGTAACTGGAAA	0.398																																					p.T1522K		.											.	.	.	0			c.C4565A						.						32	32	32					17																	15971432		2203	4300	6503	SO:0001583	missense	9611	exon31			GAAATTGTAACTG	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.4517C>A	17.37:g.15971432G>T	ENSP00000268712:p.Thr1506Lys	54	0		84	4	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161650	0.38119	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395857	T;T;T	0.39997	1.05;1.64;1.05	5.76	5.76	0.90799	.	0.458541	0.22630	N	0.057581	T	0.32912	0.0845	N	0.22421	0.69	0.35047	D	0.760241	B;B;B;B	0.26195	0.144;0.02;0.034;0.034	B;B;B;B	0.28232	0.087;0.016;0.036;0.036	T	0.43556	-0.9384	10	0.62326	D	0.03	.	13.8568	0.63531	0.0:0.2537:0.7463:0.0	.	317;1506;1522;27	B4DZ48;O75376;O75376-2;Q86YY1	.;NCOR1_HUMAN;.;.	K	1506;1522;90	ENSP00000268712:T1506K;ENSP00000379192:T1522K;ENSP00000379198:T90K	ENSP00000268712:T1506K	T	-	2	0	NCOR1	15912157	0.997000	0.39634	0.785000	0.31869	0.930000	0.56654	3.073000	0.50057	2.715000	0.92844	0.563000	0.77884	ACA	.		0.398	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	15971432	G	T	15971432	3	4	15	1	0	0	0	0	1	0	0	0	10274	1377	48	3	2865	3	NCOR1	17	15971432	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	7563296	15971432	65223778	137	2110											
CDK12	51755	hgsc.bcm.edu	37	17	37665977	37665977	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr17:37665977G>T	ENST00000447079.4	+	7	2662	c.2629G>T	c.(2629-2631)Gat>Tat	p.D877Y	CDK12_ENST00000430627.2_Missense_Mutation_p.D877Y	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	877	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CAAACTAGCAGATTTTGGACT	0.363			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																											p.D877Y		.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	.	.	0			c.G2629T						.						129	129	129					17																	37665977		2203	4300	6503	SO:0001583	missense	51755	exon7			CTAGCAGATTTTG	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.2629G>T	17.37:g.37665977G>T	ENSP00000398880:p.Asp877Tyr	52	0		89	4	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849604	0.71603	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	D;D	0.93076	-3.16;-3.16	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);	0.000000	0.47455	D	0.000231	D	0.98495	0.9498	H	0.99454	4.575	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	0.99552	1.0966	10	0.87932	D	0	-9.8158	19.4455	0.94844	0.0:0.0:1.0:0.0	.	876;877;877	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	Y	877	ENSP00000407720:D877Y;ENSP00000398880:D877Y	ENSP00000407720:D877Y	D	+	1	0	CDK12	34919503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.666000	0.90696	0.650000	0.86243	GAT	.		0.363	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37665977	G	T	37665977	3	4	15	1	0	0	0	0	1	0	0	0	3135	942	33	3	2655	3	CDK12	17	37665977	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	21694545	37665977	43529233	138	2111											
TOP2A	7153	hgsc.bcm.edu	37	17	38560515	38560515	+	Silent	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr17:38560515T>C	ENST00000423485.1	-	19	2330	c.2172A>G	c.(2170-2172)ccA>ccG	p.P724P		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	724					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)	TTCTCTGACCTGGTTTCAAAC	0.353																																					p.P724P		.											.	.	.	0			c.A2172G						.						122	114	117					17																	38560515		1870	4112	5982	SO:0001819	synonymous_variant	7153	exon19			CTGACCTGGTTTC		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.2172A>G	17.37:g.38560515T>C		66	0		93	4	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	CCDS45672.1																																																																																			.		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			C	38560515	T	C	38560515	2	2	15	1	0	0	0	0	0	0	0	1	16413	1567	55	4		4	TOP2A	17	38560515	Silent	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	894538	38560515	42634695	139	2112											
UBTF	7343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	42293340	42293340	+	Silent	SNP	T	T	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr17:42293340T>G	ENST00000302904.4	-	4	744	c.252A>C	c.(250-252)acA>acC	p.T84T	UBTF_ENST00000436088.1_Silent_p.T84T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Silent_p.T84T|UBTF_ENST00000533177.1_Silent_p.T84T|UBTF_ENST00000526094.1_Silent_p.T84T|UBTF_ENST00000529383.1_Silent_p.T84T|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000343638.5_Silent_p.T84T|UBTF_ENST00000393606.3_Silent_p.T84T			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	84					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)		ATTCTGTCAATGTACGGAACT	0.468																																					p.T84T		.											.	.	.	0			c.A252C						.						114	107	110					17																	42293340		2203	4300	6503	SO:0001819	synonymous_variant	7343	exon4			TGTCAATGTACGG	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.252A>C	17.37:g.42293340T>G		31	0		57	7	NM_014233	A8K6R8	Silent	SNP	ENST00000302904.4	37	CCDS11480.1																																																																																			.		0.468	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		G	42293340	T	G	42293340	2	3	15	1	0	0	0	0	0	0	0	1	16958	1451	51	4		4	UBTF	17	42293340	Silent	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	3732825	42293340	38901870	140	2113											
ABCA8	10351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	66878815	66878815	+	Silent	SNP	T	T	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr17:66878815T>G	ENST00000269080.2	-	28	3770	c.3633A>C	c.(3631-3633)ccA>ccC	p.P1211P	ABCA8_ENST00000586539.1_Silent_p.P1251P|ABCA8_ENST00000430352.2_Silent_p.P1251P	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1211					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)					CCTCTCCTTCTGGTTCTTCTG	0.343																																					p.P1211P		.											.	.	.	0			c.A3633C						.						186	165	172					17																	66878815		2203	4299	6502	SO:0001819	synonymous_variant	10351	exon28			TCCTTCTGGTTCT	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.3633A>C	17.37:g.66878815T>G		38	0		59	6	NM_007168	A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																			.		0.343	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		G	66878815	T	G	66878815	2	3	15	1	0	0	0	0	0	0	0	1	38	1567	55	4		4	ABCA8	17	66878815	Silent	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	24585475	66878815	14316395	141	2114											
CCDC57	284001	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	80151670	80151670	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr17:80151670C>T	ENST00000389641.4	-	6	849	c.813G>A	c.(811-813)caG>caA	p.Q271Q	CCDC57_ENST00000392343.3_Silent_p.Q271Q|CCDC57_ENST00000392347.1_Silent_p.Q271Q			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	271										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)			TCCTGGTTAGCTGCACAGAGT	0.453																																					p.Q271Q		.											.	.	.	0			c.G813A						.						106	100	102					17																	80151670		1951	4151	6102	SO:0001819	synonymous_variant	284001	exon6			GGTTAGCTGCACA	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.813G>A	17.37:g.80151670C>T		38	0		76	4	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37																																																																																				.		0.453	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		T	80151670	C	T	80151670	2	4	15	1	0	0	0	0	0	0	0	1	2834	796	28	3		3	CCDC57	17	80151670	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	13272855	80151670	1043540	142	2115											
UHRF1	29128	hgsc.bcm.edu	37	19	4954681	4954681	+	RNA	SNP	G	G	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:4954681G>C	ENST00000592666.1	+	0	2553							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGAGCAGGGCGGGTCCCCGCG	0.682																																					.		.											.	.	.	0			.						.						8	10	9					19																	4954681		1813	4040	5853			29128	p.A672A			CAGGGCGGGTCCC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954681G>C		30	0		42	5	.	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Silent	SNP	ENST00000592666.1	37																																																																																				.		0.682	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		C	4954681	G	C	4954681	1	2	15	0	1	0	0	0	0	0	0	0	17016	1103	39	5		5	UHRF1	19	4954681	RNA	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		4954681	54174302	143	2116											
ACSBG2	81616	hgsc.bcm.edu	37	19	6187825	6187825	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:6187825G>T	ENST00000586696.1	+	13	2172	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	ACSBG2_ENST00000588485.1_Missense_Mutation_p.E445D|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.E582D|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E632D|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E632D			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	632					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATCTTGGAGAAGGACTTTT	0.512																																					p.E632D		.											ACSBG2,NS,carcinoma,0,1	ACSBG2	0	0			c.G1896T						.						198	182	188					19																	6187825		2203	4300	6503	SO:0001583	missense	81616	exon13			CTTGGAGAAGGAC		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1896G>T	19.37:g.6187825G>T	ENSP00000465589:p.Glu632Asp	30	0		39	2	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452870	0.26161	.	.	ENSG00000130377	ENST00000252669	T	0.09350	2.99	5.46	0.705	0.18127	.	0.503904	0.16998	N	0.191033	T	0.06325	0.0163	N	0.17764	0.52	0.35851	D	0.826797	B;B	0.14012	0.001;0.009	B;B	0.15052	0.003;0.012	T	0.28235	-1.0050	10	0.33141	T	0.24	-35.0069	7.5801	0.27959	0.1457:0.3811:0.4732:0.0	.	604;632	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	D	632	ENSP00000252669:E632D	ENSP00000252669:E632D	E	+	3	2	ACSBG2	6138825	0.155000	0.22806	0.998000	0.56505	0.839000	0.47603	-0.666000	0.05280	0.249000	0.21456	0.655000	0.94253	GAG	.		0.512	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		T	6187825	G	T	6187825	3	4	15	1	0	0	0	0	1	0	0	0	174	933	33	3	1942	3	ACSBG2	19	6187825	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	1233144	6187825	52941158	144	2117											
SH2D3A	10045	hgsc.bcm.edu	37	19	6755188	6755188	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:6755188T>C	ENST00000245908.6	-	5	904	c.635A>G	c.(634-636)aAg>aGg	p.K212R	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.K90R	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	212					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						CCGGGGGGGCTTCGTTGGTGC	0.647																																					p.K212R		.											SH2D3A,NS,carcinoma,0,1	SH2D3A	0	0			c.A635G						.						93	106	101					19																	6755188		2203	4300	6503	SO:0001583	missense	10045	exon5			GGGGGCTTCGTTG	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.635A>G	19.37:g.6755188T>C	ENSP00000245908:p.Lys212Arg	60	0		79	3	NM_005490	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582253	0.28180	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.39229	2.54;1.09	4.53	4.53	0.55603	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.40469	N	0.001089	T	0.61751	0.2372	M	0.77313	2.365	0.34311	D	0.685493	P;D	0.76494	0.859;0.999	B;D	0.68765	0.274;0.96	T	0.73522	-0.3956	10	0.44086	T	0.13	-28.5372	11.8134	0.52195	0.0:0.0:0.0:1.0	.	90;212	B4DRS7;Q9BRG2	.;SH23A_HUMAN	R	212;90	ENSP00000245908:K212R;ENSP00000393303:K90R	ENSP00000245908:K212R	K	-	2	0	SH2D3A	6706188	1.000000	0.71417	0.995000	0.50966	0.097000	0.18754	4.542000	0.60677	1.677000	0.50941	0.379000	0.24179	AAG	.		0.647	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		C	6755188	T	C	6755188	3	2	15	1	0	0	0	0	1	0	0	0	14278	1609	56	4	1119	4	SH2D3A	19	6755188	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	567363	6755188	52373795	145	2118											
RAB11B	9230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	8467101	8467101	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:8467101G>A	ENST00000328024.6	+	3	586	c.368G>A	c.(367-369)gGc>gAc	p.G123D	RAB11B_ENST00000601897.1_Missense_Mutation_p.G4D|RAB11B_ENST00000594216.1_Missense_Mutation_p.G123D	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	123					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						ATGCTGGTGGGCAACAAGAGT	0.627																																					p.G123D		.											.	.	.	0			c.G368A						.						62	35	44					19																	8467101		2200	4294	6494	SO:0001583	missense	9230	exon3			TGGTGGGCAACAA	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.368G>A	19.37:g.8467101G>A	ENSP00000333547:p.Gly123Asp	11	0		25	13	NM_004218	A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627253	0.87560	.	.	ENSG00000185236	ENST00000328024	D	0.85861	-2.04	4.84	3.79	0.43588	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95692	0.8599	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97010	0.9735	10	0.87932	D	0	.	13.5197	0.61561	0.0:0.0:0.8425:0.1575	.	123;123	B4DMK0;Q15907	.;RB11B_HUMAN	D	123	ENSP00000333547:G123D	ENSP00000333547:G123D	G	+	2	0	RAB11B	8373101	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.657000	0.98554	1.379000	0.46325	0.561000	0.74099	GGC	.		0.627	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		A	8467101	G	A	8467101	3	1	15	1	0	0	0	0	1	0	0	0	12937	1203	42	3	378	3	RAB11B	19	8467101	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	1711913	8467101	50661882	146	2119											
HNRNPM	4670	hgsc.bcm.edu	37	19	8528546	8528546	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:8528546C>T	ENST00000325495.4	+	5	455	c.414C>T	c.(412-414)agC>agT	p.S138S	HNRNPM_ENST00000348943.3_Silent_p.S138S	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	138	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.S138S(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATAGTCTGAGCGGAAGACCAC	0.418																																					p.S138S		.											HNRNPM,caecum,carcinoma,0,1	HNRNPM	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T						.						114	93	100					19																	8528546		2203	4300	6503	SO:0001819	synonymous_variant	4670	exon5			TCTGAGCGGAAGA	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.414C>T	19.37:g.8528546C>T		33	0		50	2	NM_031203	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	CCDS12203.1																																																																																			.		0.418	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			T	8528546	C	T	8528546	2	4	15	1	0	0	0	0	0	0	0	1	7298	767	27	1		1	HNRNPM	19	8528546	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	61445	8528546	50600437	147	2120											
PDE4A	5141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	10568639	10568639	+	Missense_Mutation	SNP	C	C	T	rs200742358		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:10568639C>T	ENST00000352831.6	+	8	1072	c.962C>T	c.(961-963)cCg>cTg	p.P321L	PDE4A_ENST00000344979.3_Missense_Mutation_p.P82L|PDE4A_ENST00000440014.2_Missense_Mutation_p.P260L|PDE4A_ENST00000293683.5_Missense_Mutation_p.P295L|PDE4A_ENST00000592685.1_Missense_Mutation_p.P299L|PDE4A_ENST00000380702.2_Missense_Mutation_p.P299L	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	321					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)	CCCTCCCAGCCGCCCCCGCCC	0.527													c|||	1	0.000199681	0	0	5008	,	,		11986	0		0	False		,,,				2504	0.001				p.P321L		.											.	.	.	0			c.C962T						.						65	75	71					19																	10568639		2203	4300	6503	SO:0001583	missense	5141	exon8			CCCAGCCGCCCCC		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.962C>T	19.37:g.10568639C>T	ENSP00000270474:p.Pro321Leu	37	0		59	22	NM_001111307	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	8.471	0.857449	0.17106	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.66280	-0.19;-0.19;-0.2;-0.19;0.11	4.14	3.12	0.35913	.	1.049540	0.07645	N	0.930888	T	0.40956	0.1138	N	0.19112	0.55	0.45634	D	0.99856	P;P;B;B	0.50617	0.937;0.846;0.171;0.035	B;B;B;B	0.39706	0.307;0.131;0.018;0.003	T	0.41251	-0.9519	10	0.06365	T	0.9	.	7.7742	0.29026	0.7717:0.2283:0.0:0.0	.	82;260;295;321	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	L	299;321;295;260;82	ENSP00000370078:P299L;ENSP00000270474:P321L;ENSP00000293683:P295L;ENSP00000394754:P260L;ENSP00000341007:P82L	ENSP00000293683:P295L	P	+	2	0	PDE4A	10429639	1.000000	0.71417	0.990000	0.47175	0.326000	0.28443	1.407000	0.34657	0.942000	0.37525	-0.269000	0.10298	CCG	.		0.527	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			T	10568639	C	T	10568639	3	4	15	1	0	0	0	0	1	0	0	0	11678	652	23	1	1449	1	PDE4A	19	10568639	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	2040093	10568639	48560344	148	2121											
ZNF676	163223	bcgsc.ca	37	19	22363737	22363737	+	Missense_Mutation	SNP	C	C	G	rs572031376	byFrequency	TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:22363737C>G	ENST00000397121.2	-	3	1099	c.782G>C	c.(781-783)gGa>gCa	p.G261A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				GCTACTAAATCCTTTGCCACA	0.393													G|||	17	0.00339457	0.0015	0.0029	5008	,	,		24868	0.0089		0.003	False		,,,				2504	0.001				p.G261A													.	ZNF676	146	0			c.G782C						.						89	96	93					19																	22363737		2158	4274	6432	SO:0001583	missense	163223	exon3			CTAAATCCTTTGC	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.782G>C	19.37:g.22363737C>G	ENSP00000380310:p.Gly261Ala	58	1		71	8	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.455683	0.00012	.	.	ENSG00000196109	ENST00000397121	T	0.35236	1.32	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.00788	-1.185	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.28996	-1.0026	9	0.02654	T	1	.	8.4431	0.32826	0.0:0.685:0.315:0.0	.	261	Q8N7Q3	ZN676_HUMAN	A	261	ENSP00000380310:G261A	ENSP00000380310:G261A	G	-	2	0	ZNF676	22155577	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.024000	0.12435	-1.409000	0.02038	-1.398000	0.01145	GGA	.		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363737	C	G	22363737	3	3	15	1	0	0	0	0	1	0	0	0	18131	855	30	5	988	5	ZNF676	19	22363737	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	11795098	22363737	36765246	149	2122											
ZNF527	84503	hgsc.bcm.edu	37	19	37879856	37879856	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:37879856A>G	ENST00000436120.2	+	5	1012	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	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)	p.Y302>?(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAAACCATATGCATGCAAT	0.393																																					p.Y302C		.											.,1	.	78	1	Complex(1)	lung(1)	c.A905G						.						105	96	99					19																	37879856		2093	4241	6334	SO:0001583	missense	84503	exon5			AACCATATGCATG	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.905A>G	19.37:g.37879856A>G	ENSP00000390179:p.Tyr302Cys	30	1		40	3	NM_032453	B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	2.120	-0.401673	0.04865	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.557068	0.13635	N	0.373399	T	0.49983	0.1589	M	0.88704	2.975	0.09310	N	0.999999	B;B	0.17038	0.02;0.016	B;B	0.16722	0.016;0.009	T	0.53704	-0.8401	9	0.72032	D	0.01	.	3.9384	0.09316	0.6603:0.0:0.1838:0.1559	.	302;270	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	C	302;270;250	.	ENSP00000325231:Y270C	Y	+	2	0	ZNF527	42571696	0.000000	0.05858	0.042000	0.18584	0.284000	0.27059	-0.422000	0.07043	0.193000	0.20303	-0.274000	0.10170	TAT	.		0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		G	37879856	A	G	37879856	3	3	15	1	0	0	0	0	1	0	0	0	18016	449	16	4	919	4	ZNF527	19	37879856	Missense_Mutation	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	15516119	37879856	21249127	150	2123											
RYR1	6261	hgsc.bcm.edu	37	19	39062862	39062862	+	Silent	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:39062862G>A	ENST00000359596.3	+	95	13950	c.13950G>A	c.(13948-13950)ctG>ctA	p.L4650L	RYR1_ENST00000360985.3_Silent_p.L4645L|RYR1_ENST00000355481.4_Silent_p.L4645L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4650			L -> P (in CCD; autosomal recessive form). {ECO:0000269|PubMed:12937085}.		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.L4650L(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)	TGAGCCTCCTGCATACACTGG	0.567																																					p.L4650L		.											RYR1,NS,carcinoma,0,2	RYR1	0	1	Substitution - coding silent(1)	lung(1)	c.G13950A						.						122	105	111					19																	39062862		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon95			CCTCCTGCATACA	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.13950G>A	19.37:g.39062862G>A		32	0		39	2	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39062862	G	A	39062862	2	1	15	1	0	0	0	0	0	0	0	1	13813	1306	46	3		3	RYR1	19	39062862	Silent	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	1183006	39062862	20066121	151	2124											
HNRNPUL1	11100	broad.mit.edu	37	19	41798301	41798301	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:41798301G>T	ENST00000392006.3	+	8	1324	c.1151G>T	c.(1150-1152)gGa>gTa	p.G384V	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.G384V|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.G295V|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.G270V|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.G284V|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.G284V|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.G284V	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCAACTTCGGACAGAGAGCA	0.562																																					p.G384V													.	HNRNPUL1	73	0			c.G1151T						.						135	127	130					19																	41798301		2203	4300	6503	SO:0001583	missense	11100	exon8			ACTTCGGACAGAG	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1151G>T	19.37:g.41798301G>T	ENSP00000375863:p.Gly384Val	34	0		42	3	NM_007040	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994253	0.93167	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	6.04	6.04	0.98038	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	D	0.91553	0.7332	H	0.97023	3.925	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	0.999;1.0;0.999;1.0;0.999;0.999	D	0.93486	0.6831	10	0.87932	D	0	-18.9152	19.3663	0.94464	0.0:0.0:1.0:0.0	.	295;284;384;270;384;284	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	V	284;384;270;295	ENSP00000340857:G284V;ENSP00000375863:G384V;ENSP00000367460:G270V;ENSP00000263367:G295V	ENSP00000263367:G295V	G	+	2	0	HNRNPUL1	46490141	1.000000	0.71417	0.984000	0.44739	0.927000	0.56198	9.808000	0.99193	2.873000	0.98535	0.563000	0.77884	GGA	.		0.562	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		T	41798301	G	T	41798301	3	4	15	1	0	0	0	0	1	0	0	0	7301	1174	41	3	1181	3	HNRNPUL1	19	41798301	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2735439	41798301	17330682	152	2125											
BCL3	602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	45262071	45262071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:45262071G>T	ENST00000164227.5	+	8	1394	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	384	Pro/Ser-rich.				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)				CACCTCCCCCGAGAGCAGCAG	0.662			T	IGH@	CLL																																p.E384X		.		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	.	.	0			c.G1150T						.						38	37	38					19																	45262071		2191	4295	6486	SO:0001587	stop_gained	602	exon8			TCCCCCGAGAGCA	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.1150G>T	19.37:g.45262071G>T	ENSP00000164227:p.Glu384*	14	0		20	8	NM_005178		Nonsense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.873146|6.873146	0.97901|0.97901	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000164227|ENST00000444487	.|.	.|.	.|.	4.11|4.11	4.11|4.11	0.48088|0.48088	.|.	0.513537|.	0.16071|.	N|.	0.231001|.	.|T	.|0.60457	.|0.2270	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58578	.|-0.7612	.|4	0.25106|.	T|.	0.35|.	-3.0933|-3.0933	10.0426|10.0426	0.42166|0.42166	0.0:0.2065:0.7935:0.0|0.0:0.2065:0.7935:0.0	.|.	.|.	.|.	.|.	X|L	384|287	.|.	ENSP00000164227:E384X|.	E|R	+|+	1|2	0|0	BCL3|BCL3	49953911|49953911	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.765000|0.765000	0.43378|0.43378	4.900000|4.900000	0.63252|0.63252	1.841000|1.841000	0.53522|0.53522	0.485000|0.485000	0.47835|0.47835	GAG|CGA	.		0.662	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		T	45262071	G	T	45262071	4	4	15	1	0	0	0	0	0	1	0	0	1376	1059	37	2	1180	2	BCL3	19	45262071	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	3463770	45262071	13866912	153	2126											
SPHK2	56848	hgsc.bcm.edu	37	19	49132111	49132111	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:49132111G>T	ENST00000245222.4	+	7	1412	c.1046G>T	c.(1045-1047)cGc>cTc	p.R349L	SPHK2_ENST00000443164.1_Missense_Mutation_p.R411L|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599029.1_Missense_Mutation_p.R313L|SPHK2_ENST00000599748.1_Missense_Mutation_p.R313L|SPHK2_ENST00000600537.1_Missense_Mutation_p.R290L|SPHK2_ENST00000598088.1_Missense_Mutation_p.R349L	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	349					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)		CAGAGCGAGCGCTTCAGGGCC	0.662																																					p.R349L		.											SPHK2,caecum,carcinoma,0,1	SPHK2	0	0			c.G1046T						.						71	72	72					19																	49132111		2203	4300	6503	SO:0001583	missense	56848	exon7			GCGAGCGCTTCAG	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.1046G>T	19.37:g.49132111G>T	ENSP00000245222:p.Arg349Leu	45	0		47	2	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816473	0.50527	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000443164	T;T	0.14266	2.52;2.52	4.13	4.13	0.48395	.	0.061034	0.56097	D	0.000023	T	0.17152	0.0412	M	0.87381	2.88	0.80722	D	1	B;P;P	0.50066	0.18;0.931;0.704	B;B;B	0.35607	0.081;0.1;0.206	T	0.06607	-1.0817	10	0.72032	D	0.01	-43.7105	7.9713	0.30130	0.1116:0.0:0.8884:0.0	.	290;411;349	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	L	349;322;411	ENSP00000245222:R349L;ENSP00000413369:R411L	ENSP00000245222:R349L	R	+	2	0	SPHK2	53823923	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.665000	0.54532	2.317000	0.78254	0.655000	0.94253	CGC	.		0.662	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			T	49132111	G	T	49132111	3	4	15	1	0	0	0	0	1	0	0	0	15094	1087	38	2	1068	2	SPHK2	19	49132111	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	3870040	49132111	9996872	154	2127											
BRSK1	84446	bcgsc.ca	37	19	55817627	55817627	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr19:55817627G>T	ENST00000309383.1	+	17	2175	c.1898G>T	c.(1897-1899)aGc>aTc	p.S633I	BRSK1_ENST00000590333.1_Missense_Mutation_p.S649I|BRSK1_ENST00000326848.7_Missense_Mutation_p.S328I	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	633					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)		CAGATCCCCAGCCTGAGTCAC	0.612																																					p.S633I													.	BRSK1	192	0			c.G1898T						.						55	57	57					19																	55817627		2203	4300	6503	SO:0001583	missense	84446	exon17			TCCCCAGCCTGAG	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.1898G>T	19.37:g.55817627G>T	ENSP00000310649:p.Ser633Ile	30	0		54	4	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	16.16	3.045385	0.55110	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73258	-0.73;1.78	5.11	5.11	0.69529	.	0.140194	0.48286	D	0.000195	D	0.82559	0.5063	L	0.61218	1.895	0.47778	D	0.999514	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	D	0.84294	0.0501	10	0.87932	D	0	.	17.7465	0.88422	0.0:0.0:1.0:0.0	.	633;649	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	I	633;328;328	ENSP00000310649:S633I;ENSP00000320853:S328I	ENSP00000310649:S633I	S	+	2	0	BRSK1	60509439	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.520000	0.67080	2.572000	0.86782	0.555000	0.69702	AGC	.		0.612	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		T	55817627	G	T	55817627	3	4	15	1	0	0	0	0	1	0	0	0	1527	971	34	3	1964	3	BRSK1	19	55817627	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	6685516	55817627	3311356	155	2128											
TH1L	51497	hgsc.bcm.edu;ucsc.edu	37	20	57568731	57568731	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr20:57568731G>T	ENST00000344018.3	+	13	1547	c.1520G>T	c.(1519-1521)gGt>gTt	p.G507V	NELFCD_ENST00000479207.1_Splice_Site|NELFCD_ENST00000602795.1_Missense_Mutation_p.G516V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	507					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)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CTGAGTCGAGGTTATGTACTT	0.493																																					p.G516V		.											.	.	.	0			c.G1547T						.						188	167	174					20																	57568731		2203	4300	6503	SO:0001583	missense	51497	exon13			GTCGAGGTTATGT	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1520G>T	20.37:g.57568731G>T	ENSP00000342300:p.Gly507Val	24	0		39	4	NM_198976	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255003	0.80135	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.84410	0.5466	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87330	0.2324	9	0.87932	D	0	-30.6017	18.2473	0.89991	0.0:0.0:1.0:0.0	.	507	Q8IXH7	NELFD_HUMAN	V	507	.	ENSP00000342300:G507V	G	+	2	0	TH1L	57002126	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.563000	0.98148	2.622000	0.88805	0.557000	0.71058	GGT	.		0.493	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		T	57568731	G	T	57568731	3	4	15	1	0	0	0	0	1	0	0	0	15886	1261	44	3	1570	3	TH1L	20	57568731	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		57568731	5456789	156	2129											
CDH26	60437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	58564141	58564141	+	Silent	SNP	T	T	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr20:58564141T>C	ENST00000244047.5	+	9	1517	c.1206T>C	c.(1204-1206)atT>atC	p.I402I	CDH26_ENST00000348616.4_Silent_p.I402I			Q8IXH8	CAD26_HUMAN	cadherin 26	402	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(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)			AGAGCTTCATTGTCAATAAAG	0.572																																					p.I402I		.											.	.	.	0			c.T1206C						.						146	171	162					20																	58564141		2203	4300	6503	SO:0001819	synonymous_variant	60437	exon9			CTTCATTGTCAAT	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.1206T>C	20.37:g.58564141T>C		60	0		100	34	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37																																																																																				.		0.572	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		C	58564141	T	C	58564141	2	2	15	1	0	0	0	0	0	0	0	1	3117	1800	63	4		4	CDH26	20	58564141	Silent	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	995410	58564141	4461379	157	2130											
HRH3	11255	hgsc.bcm.edu;broad.mit.edu	37	20	60791534	60791534	+	Missense_Mutation	SNP	G	G	A	rs374571202		TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr20:60791534G>A	ENST00000340177.5	-	3	1150	c.866C>T	c.(865-867)gCg>gTg	p.A289V	HRH3_ENST00000317393.6_Missense_Mutation_p.A289V	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	289					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)	CCCGAGGGTCGCCTCCCCGGC	0.736																																					p.A289V		.											.	.	.	0			c.C866T						.																																			SO:0001583	missense	11255	exon3			AGGGTCGCCTCCC	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.866C>T	20.37:g.60791534G>A	ENSP00000342560:p.Ala289Val	14	0		16	7	NM_007232	Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.67865	-0.25;-0.29	4.15	-3.37	0.04898	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42337	0.1198	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.15321	-1.0441	9	0.28530	T	0.3	0.04	2.0362	0.03540	0.2262:0.2577:0.3974:0.1187	.	289;289	Q9Y5N1-2;Q9Y5N1	.;HRH3_HUMAN	V	289;289;259	ENSP00000342560:A289V;ENSP00000321482:A289V	ENSP00000321482:A289V	A	-	2	0	HRH3	60224929	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.032000	0.03574	-0.941000	0.03700	-1.026000	0.02426	GCG	.		0.736	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		A	60791534	G	A	60791534	3	1	15	1	0	0	0	0	1	0	0	0	7384	1087	38	1	475	1	HRH3	20	60791534	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2227393	60791534	2233986	158	2131											
APP	351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	27277339	27277339	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr21:27277339G>C	ENST00000346798.3	-	15	1993	c.1960C>G	c.(1960-1962)Cca>Gca	p.P654A	APP_ENST00000359726.3_Missense_Mutation_p.P598A|APP_ENST00000357903.3_Missense_Mutation_p.P635A|APP_ENST00000440126.3_Missense_Mutation_p.P630A|APP_ENST00000439274.2_Missense_Mutation_p.P598A|APP_ENST00000348990.5_Missense_Mutation_p.P579A|APP_ENST00000358918.3_Intron|APP_ENST00000448388.2_Missense_Mutation_p.P544A|APP_ENST00000354192.3_Missense_Mutation_p.P523A	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	654					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)				CTGATACCTGGTCGAGTGGTC	0.527																																					p.P654A		.											.	.	.	0			c.C1960G						.						146	129	135					21																	27277339		2203	4300	6503	SO:0001583	missense	351	exon15			TACCTGGTCGAGT	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.1960C>G	21.37:g.27277339G>C	ENSP00000284981:p.Pro654Ala	32	0		25	13	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	Missense_Mutation	SNP	ENST00000346798.3	37	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238246	0.58886	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;D;D;D;D;D;D;D	0.96073	-1.95;-3.89;-3.89;-1.96;-3.9;-3.89;-1.96;-1.95	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96935	0.8999	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;0.996;0.996;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.956;0.999;0.981;0.981;0.997	D	0.96788	0.9580	10	0.54805	T	0.06	.	19.0554	0.93062	0.0:0.0:1.0:0.0	.	544;598;630;523;579;635;654	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	A	654;523;579;635;598;544;630;598	ENSP00000284981:P654A;ENSP00000346129:P523A;ENSP00000345463:P579A;ENSP00000350578:P635A;ENSP00000352760:P598A;ENSP00000388538:P544A;ENSP00000387483:P630A;ENSP00000398879:P598A	ENSP00000284981:P654A	P	-	1	0	APP	26199210	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.449000	0.80643	2.837000	0.97791	0.655000	0.94253	CCA	.		0.527	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		C	27277339	G	C	27277339	3	2	15	1	0	0	0	0	1	0	0	0	815	1261	44	5	368	5	APP	21	27277339	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		27277339	20852556	159	2132											
THOC5	8563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	29913065	29913066	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	GC	GC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chr22:29913065_29913066GC>TA	ENST00000490103.1	-	17	1755_1756	c.1633_1634GC>TA	c.(1633-1635)GCt>TAt	p.A545Y	THOC5_ENST00000397872.1_Missense_Mutation_p.A545Y|THOC5_ENST00000397873.2_Missense_Mutation_p.A545Y|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.A545Y	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	545					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						GGTGTCCCCAGCCAGTCCCGCA	0.535																																					p.A545Y		.											.	.	.	0			c.G1633T						.																																			SO:0001583	missense	8563	exon18			CCCCAGCCAGTCC	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.1633_1634delinsTA	22.37:g.29913065_29913066delinsTA	ENSP00000420306:p.Ala545Tyr	37	0		71	10	NM_001002878	O60839|Q9UPZ5	Missense_Mutation	DNP	ENST00000490103.1	37	CCDS13859.1																																																																																			.		0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		TA	29913066	GC	TA	29913065	3	4	15	1	0	0	0	0	1	0	0	0	15915	971	34	3	433	3	THOC5	22	29913065	Missense_Mutation	DNP	GC	TCGA-W5-AA2U-01A-11D-A417-09		29913065	21391501	160	2133											
GYG2	8908	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	2799129	2799129	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:2799129G>A	ENST00000381163.3	+	12	1663	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.E430K|GYG2_ENST00000338623.5_Missense_Mutation_p.E425K|GYG2_ENST00000542787.1_Missense_Mutation_p.E390K	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	461					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)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				GATCTCCATCGAAGAGAAGGT	0.542																																					p.E461K		.											.	.	.	0			c.G1381A						.						120	81	94					X																	2799129		2203	4298	6501	SO:0001583	missense	8908	exon12			TCCATCGAAGAGA	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1381G>A	X.37:g.2799129G>A	ENSP00000370555:p.Glu461Lys	23	0		44	18	NM_003918	B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	CCDS14121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.162|3.162	-0.171924|-0.171924	0.06421|0.06421	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787|ENST00000381157	T;T;T;T|.	0.43294|.	0.95;1.27;1.27;1.29|.	4.03|4.03	-5.68|-5.68	0.02436|0.02436	.|.	2.478110|.	0.01761|.	N|.	0.030583|.	T|T	0.06826|0.06826	0.0174|0.0174	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.18166|.	0.001;0.002;0.009;0.002;0.011;0.026|.	B;B;B;B;B;B|.	0.10450|.	0.002;0.003;0.005;0.001;0.003;0.001|.	T|T	0.31998|0.31998	-0.9923|-0.9923	10|5	0.12103|.	T|.	0.63|.	.|.	3.2847|3.2847	0.06927|0.06927	0.3626:0.4082:0.1297:0.0995|0.3626:0.4082:0.1297:0.0995	.|.	425;390;421;430;430;461|.	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488|.	.;.;.;.;.;GLYG2_HUMAN|.	K|Q	430;461;425;390|243	ENSP00000381786:E430K;ENSP00000370555:E461K;ENSP00000341273:E425K;ENSP00000446092:E390K|.	ENSP00000341273:E425K|.	E|R	+|+	1|2	0|0	GYG2|GYG2	2809129|2809129	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.289000|-0.289000	0.08365|0.08365	-0.955000|-0.955000	0.03636|0.03636	-0.235000|-0.235000	0.12190|0.12190	GAA|CGA	.		0.542	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		A	2799129	G	A	2799129	3	1	15	1	0	0	0	0	1	0	0	0	6933	1059	37	1	1423	1	GYG2	23	2799129	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09		2799129	152471431	161	2134											
CLCN4	1183	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	10176631	10176631	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:10176631G>A	ENST00000380833.4	+	9	1780		c.e9+1		CLCN4_ENST00000380829.1_Splice_Site|CLCN4_ENST00000421085.2_Splice_Site	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGCATGAAGGTAAGTGAAAG	0.517																																					.	Melanoma(74;1050 1296 1576 30544 38374)	.											.	.	.	0			c.1389+1G>A						.						43	42	43					X																	10176631		2188	4254	6442	SO:0001630	splice_region_variant	1183	exon9			ATGAAGGTAAGTG	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1389+1G>A	X.37:g.10176631G>A		61	0		49	7	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Splice_Site	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.505160	0.85282	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4525	0.90709	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN4	10136631	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.667000	0.98616	2.299000	0.77371	0.596000	0.82720	.	.		0.517	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		Intron	A	10176631	G	A	10176631	5	1	15	1	0	0	0	0	0	0	1	0	3472	1275	44	3	1416	3	CLCN4	23	10176631	Splice_Site	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	7377502	10176631	145093929	162	2135											
GLRA2	2742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	14748367	14748367	+	Silent	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:14748367C>T	ENST00000218075.4	+	9	1649	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	GLRA2_ENST00000443437.2_Silent_p.S284S|GLRA2_ENST00000355020.4_Silent_p.S373S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	373					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|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)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TTAATTTTAGCGGTTATGGGA	0.473																																					p.S373S		.											.	.	.	0			c.C1119T						.						223	222	222					X																	14748367		2203	4300	6503	SO:0001819	synonymous_variant	2742	exon10			TTTTAGCGGTTAT		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1119C>T	X.37:g.14748367C>T		75	0		89	29	NM_001118885	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	CCDS14160.1																																																																																			.		0.473	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			T	14748367	C	T	14748367	2	4	15	1	0	0	0	0	0	0	0	1	6481	767	27	1		1	GLRA2	23	14748367	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	4571736	14748367	140522193	163	2136											
POLA1	5422	hgsc.bcm.edu	37	X	24741359	24741359	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:24741359C>T	ENST00000379059.3	+	11	1172	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	POLA1_ENST00000379068.3_Missense_Mutation_p.T392M	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	386					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|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)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATCGAGCGAACGCTTTACTTC	0.428																																					p.T386M		.											.	.	.	0			c.C1157T						.						193	174	180					X																	24741359		2203	4300	6503	SO:0001583	missense	5422	exon11			AGCGAACGCTTTA		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1157C>T	X.37:g.24741359C>T	ENSP00000368349:p.Thr386Met	51	0		91	4	NM_016937	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840410	0.16891	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.09723	2.95;2.95	5.25	3.49	0.39957	DNA-directed DNA polymerase, family B, exonuclease domain (1);	0.279996	0.39475	N	0.001350	T	0.16938	0.0407	M	0.82517	2.595	0.58432	D	0.999997	B;B	0.25105	0.074;0.118	B;B	0.27500	0.067;0.08	T	0.01566	-1.1323	10	0.37606	T	0.19	-0.422	10.6638	0.45717	0.0:0.8424:0.0:0.1576	.	392;386	A6NMQ1;P09884	.;DPOLA_HUMAN	M	392;386	ENSP00000368358:T392M;ENSP00000368349:T386M	ENSP00000368349:T386M	T	+	2	0	POLA1	24651280	0.991000	0.36638	0.061000	0.19648	0.061000	0.15899	2.927000	0.48900	0.591000	0.29711	0.600000	0.82982	ACG	.		0.428	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		T	24741359	C	T	24741359	3	4	15	1	0	0	0	0	1	0	0	0	12226	536	19	1	1199	1	POLA1	23	24741359	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	9992992	24741359	130529201	164	2137											
FAM47C	442444	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	37028705	37028705	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:37028705A>T	ENST00000358047.3	+	1	2274	c.2222A>T	c.(2221-2223)gAg>gTg	p.E741V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	741										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						CTCCGCCCAGAGCCTCCCAAG	0.627																																					p.E741V		.											.	.	.	0			c.A2222T						.						47	46	46					X																	37028705		2202	4300	6502	SO:0001583	missense	442444	exon1			GCCCAGAGCCTCC	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.2222A>T	X.37:g.37028705A>T	ENSP00000367913:p.Glu741Val	149	0		219	14	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	8.065	0.769062	0.15983	.	.	ENSG00000198173	ENST00000358047	T	0.16196	2.36	.	.	.	.	.	.	.	.	T	0.23094	0.0558	M	0.74881	2.28	0.23113	N	0.998274	D	0.58620	0.983	P	0.51170	0.661	T	0.13442	-1.0509	8	0.27785	T	0.31	.	2.9621	0.05896	0.5166:0.483:1.0E-4:2.0E-4	.	741	Q5HY64	FA47C_HUMAN	V	741	ENSP00000367913:E741V	ENSP00000367913:E741V	E	+	2	0	FAM47C	36938626	0.040000	0.19996	0.018000	0.16275	0.018000	0.09664	0.144000	0.16135	0.215000	0.20761	0.213000	0.17768	GAG	.		0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37028705	A	T	37028705	3	4	15	1	0	0	0	0	1	0	0	0	5593	304	11	5	2224	5	FAM47C	23	37028705	Missense_Mutation	SNP	A	TCGA-W5-AA2U-01A-11D-A417-09	12287346	37028705	118241855	165	2138											
BCOR	54880	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	39933623	39933623	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:39933623G>T	ENST00000378444.4	-	4	1204	c.976C>A	c.(976-978)Ccg>Acg	p.P326T	BCOR_ENST00000397354.3_Missense_Mutation_p.P326T|BCOR_ENST00000378455.4_Missense_Mutation_p.P326T|BCOR_ENST00000342274.4_Missense_Mutation_p.P326T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	326					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						GTGTCCCCCGGCAGGCCACTG	0.637			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																														p.P326T				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	351	0			c.C976A						.						28	25	26					X																	39933623		2202	4299	6501	SO:0001583	missense	54880	exon4			CCCCCGGCAGGCC	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.976C>A	X.37:g.39933623G>T	ENSP00000367705:p.Pro326Thr	32	0		45	5	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268785	0.40095	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.56	5.56	0.83823	.	.	.	.	.	T	0.28699	0.0711	N	0.24115	0.695	0.33254	D	0.558915	D;D;D;D	0.71674	0.971;0.998;0.991;0.995	P;D;P;D	0.65987	0.779;0.94;0.873;0.94	T	0.38499	-0.9658	9	0.87932	D	0	-13.3399	9.2956	0.37813	0.0788:0.1421:0.779:0.0	.	326;326;326;326	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	326	ENSP00000367716:P326T;ENSP00000380512:P326T;ENSP00000367705:P326T;ENSP00000345923:P326T;ENSP00000384485:P326T	ENSP00000345923:P326T	P	-	1	0	BCOR	39818567	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	1.178000	0.31981	2.331000	0.79229	0.600000	0.82982	CCG	.		0.637	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39933623	G	T	39933623	3	4	15	1	0	0	0	0	1	0	0	0	1387	1203	42	3	4339	3	BCOR	23	39933623	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2904918	39933623	115336937	166	2139											
ZNF157	7712	hgsc.bcm.edu	37	X	47272743	47272743	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:47272743G>T	ENST00000377073.3	+	4	1357	c.1271G>T	c.(1270-1272)aGt>aTt	p.S424I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	424					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						AAAATCTTCAGTATGAAGAAA	0.418																																					p.S424I		.											.	.	.	0			c.G1271T						.						77	69	72					X																	47272743		2203	4300	6503	SO:0001583	missense	7712	exon4			TCTTCAGTATGAA	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.1271G>T	X.37:g.47272743G>T	ENSP00000366273:p.Ser424Ile	43	0		79	4	NM_003446	Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721438	0.30503	.	.	ENSG00000147117	ENST00000377073	T	0.19938	2.11	3.29	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21186	0.0510	L	0.47190	1.495	0.09310	N	1	D	0.52996	0.957	P	0.45794	0.493	T	0.08066	-1.0740	9	0.38643	T	0.18	.	8.64	0.33972	0.0:0.4579:0.5421:0.0	.	424	P51786	ZN157_HUMAN	I	424	ENSP00000366273:S424I	ENSP00000366273:S424I	S	+	2	0	ZNF157	47157687	0.001000	0.12720	0.054000	0.19295	0.990000	0.78478	0.236000	0.17967	0.738000	0.32606	0.600000	0.82982	AGT	.		0.418	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		T	47272743	G	T	47272743	3	4	15	1	0	0	0	0	1	0	0	0	17785	1029	36	3	1285	3	ZNF157	23	47272743	Missense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	7339120	47272743	107997817	167	2140											
CLCN5	1184	hgsc.bcm.edu	37	X	49840560	49840560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:49840560G>T	ENST00000307367.2	+	4	607	c.316G>T	c.(316-318)Gag>Tag	p.E106*	CLCN5_ENST00000376088.3_Nonsense_Mutation_p.E176*|CLCN5_ENST00000376091.3_Nonsense_Mutation_p.E176*|CLCN5_ENST00000376108.3_Nonsense_Mutation_p.E106*			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	106					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)					CTGGAACTCTGAGCATGTCAC	0.418																																					p.E176X		.											.	.	.	0			c.G526T						.						158	130	139					X																	49840560		2203	4300	6503	SO:0001587	stop_gained	1184	exon7			AACTCTGAGCATG	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.316G>T	X.37:g.49840560G>T	ENSP00000304257:p.Glu106*	46	0		97	4	NM_001127898	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Nonsense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	37	6.051323	0.97236	.	.	ENSG00000171365	ENST00000376088;ENST00000376091;ENST00000376108;ENST00000307367	.	.	.	5.0	-3.64	0.04515	.	0.817091	0.10929	N	0.618551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-6.5404	6.3468	0.21353	0.4037:0.3263:0.27:0.0	.	.	.	.	X	176;176;106;106	.	ENSP00000304257:E106X	E	+	1	0	CLCN5	49727300	0.716000	0.27956	0.000000	0.03702	0.978000	0.69477	1.696000	0.37773	-0.945000	0.03681	0.529000	0.55759	GAG	.		0.418	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			T	49840560	G	T	49840560	4	4	15	1	0	0	0	0	0	1	0	0	3473	1291	45	3	544	3	CLCN5	23	49840560	Nonsense_Mutation	SNP	G	TCGA-W5-AA2U-01A-11D-A417-09	2567817	49840560	105430000	168	2141											
SRPX2	27286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	99921900	99921900	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:99921900C>A	ENST00000373004.3	+	8	1359	c.931C>A	c.(931-933)Cag>Aag	p.Q311K		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	311	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GTCCAGCCGCCAGTGGTCAGG	0.582																																					p.Q311K		.											.	.	.	0			c.C931A						.						31	26	28					X																	99921900		2203	4300	6503	SO:0001583	missense	27286	exon8			AGCCGCCAGTGGT	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.931C>A	X.37:g.99921900C>A	ENSP00000362095:p.Gln311Lys	44	0		60	27	NM_014467	B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	6.837	0.523732	0.13066	.	.	ENSG00000102359	ENST00000373004	T	0.65364	-0.15	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.344881	0.34133	N	0.004222	T	0.51075	0.1653	L	0.38649	1.16	0.36192	D	0.850169	B	0.23128	0.08	B	0.22880	0.042	T	0.54886	-0.8226	9	.	.	.	-11.0505	13.2756	0.60186	0.1583:0.8417:0.0:0.0	.	311	O60687	SRPX2_HUMAN	K	311	ENSP00000362095:Q311K	.	Q	+	1	0	SRPX2	99808556	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.523000	0.35932	2.343000	0.79666	0.529000	0.55759	CAG	.		0.582	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		A	99921900	C	A	99921900	3	1	15	1	0	0	0	0	1	0	0	0	15212	595	21	3	957	3	SRPX2	23	99921900	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	50081340	99921900	55348660	169	2142											
RPL36A	6173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	100646777	100646777	+	Nonsense_Mutation	SNP	T	T	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:100646777T>G	ENST00000553110.3	+	3	228	c.144T>G	c.(142-144)taT>taG	p.Y48*	RPL36A_ENST00000471855.1_De_novo_Start_OutOfFrame|RPL36A_ENST00000427805.2_Nonsense_Mutation_p.Y84*|RPL36A-HNRNPH2_ENST00000409170.3_Missense_Mutation_p.M59R			P83881	RL36A_HUMAN	ribosomal protein L36a	48					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)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						AGAGTGGCTATGGTGGGCAAA	0.413																																					p.Y84X		.											.	.	.	0			c.T252G						.						149	127	135					X																	100646777		2203	4300	6503	SO:0001587	stop_gained	0	exon3			TGGCTATGGTGGG	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.144T>G	X.37:g.100646777T>G	ENSP00000446503:p.Tyr48*	58	0		106	27	NM_001199973	P09896|P10661|Q08ES5|Q5J9I6	Nonsense_Mutation	SNP	ENST00000553110.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	29.0|29.0|29.0	4.965194|4.965194|4.965194	0.92855|0.92855|0.92855	.|.|.	.|.|.	ENSG00000257529|ENSG00000241343|ENSG00000241343;ENSG00000241343;ENSG00000257529	ENST00000409170|ENST00000392994|ENST00000427805;ENST00000553110;ENST00000409338	.|.|.	.|.|.	.|.|.	5.85|5.85|5.85	-1.65|-1.65|-1.65	0.08291|0.08291|0.08291	.|.|.	.|.|0.000000	.|.|0.56097	.|.|U	.|.|0.000034	T|T|.	0.36552|0.36552|.	0.0971|0.0971|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.39440|0.39440|.	-0.9614|-0.9614|.	3|3|.	.|.|.	.|.|.	.|.|.	-22.4825|-22.4825|-22.4825	6.3926|6.3926|6.3926	0.21595|0.21595|0.21595	0.11:0.3316:0.0:0.5585|0.11:0.3316:0.0:0.5585|0.11:0.3316:0.0:0.5585	.|.|.	.|.|.	.|.|.	.|.|.	R|G|X	59|67|84;48;59	.|.|.	.|.|.	M|W|Y	+|+|+	2|1|3	0|0|2	RP1-164F3.9|RPL36A|RPL36A;RP1-164F3.9	100533433|100533433|100533433	0.992000|0.992000|0.992000	0.36948|0.36948|0.36948	0.905000|0.905000|0.905000	0.35620|0.35620|0.35620	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	0.205000|0.205000|0.205000	0.17356|0.17356|0.17356	-0.713000|-0.713000|-0.713000	0.04981|0.04981|0.04981	0.381000|0.381000|0.381000	0.24937|0.24937|0.24937	ATG|TGG|TAT	.		0.413	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029		G	100646777	T	G	100646777	4	3	15	1	0	0	0	0	0	1	0	0	13632	1471	51	4	154	4	RPL36A	23	100646777	Nonsense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	724877	100646777	54623783	170	2143											
GUCY2F	2986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	108641914	108641914	+	Silent	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:108641914C>A	ENST00000218006.2	-	11	2430	c.2139G>T	c.(2137-2139)acG>acT	p.T713T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	713	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						GTTCAGGGGCCGTCCACAGCA	0.478																																					p.T713T		.											.	.	.	0			c.G2139T						.						75	64	68					X																	108641914		2203	4300	6503	SO:0001819	synonymous_variant	2986	exon11			AGGGGCCGTCCAC	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.2139G>T	X.37:g.108641914C>A		51	0		56	8	NM_001522	Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																			.		0.478	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108641914	C	A	108641914	2	1	15	1	0	0	0	0	0	0	0	1	6925	639	23	2		2	GUCY2F	23	108641914	Silent	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	7995137	108641914	46628646	171	2144											
ELF4	2000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	129201166	129201166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:129201166C>A	ENST00000308167.5	-	9	1901	c.1522G>T	c.(1522-1524)Gga>Tga	p.G508*	ELF4_ENST00000335997.7_Nonsense_Mutation_p.G508*	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						CCTGCTGGTCCAGCCCCTGTG	0.667			T	ERG	AML																																p.G508X		.		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	.	.	0			c.G1522T						.						25	27	27					X																	129201166		2199	4289	6488	SO:0001587	stop_gained	2000	exon9			CTGGTCCAGCCCC	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.1522G>T	X.37:g.129201166C>A	ENSP00000311280:p.Gly508*	29	0		66	19	NM_001421		Nonsense_Mutation	SNP	ENST00000308167.5	37	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	c	38	6.647086	0.97730	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	.	.	.	3.38	1.55	0.23275	.	0.435423	0.20999	N	0.081890	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	3.2972	0.06970	0.2575:0.5994:0.0:0.1431	.	.	.	.	X	508	.	ENSP00000311280:G508X	G	-	1	0	ELF4	129028847	0.287000	0.24315	0.012000	0.15200	0.994000	0.84299	0.250000	0.18235	0.274000	0.22072	0.509000	0.49947	GGA	.		0.667	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		A	129201166	C	A	129201166	4	1	15	1	0	0	0	0	0	1	0	0	5072	603	21	3	473	3	ELF4	23	129201166	Nonsense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	20559252	129201166	26069394	172	2145											
FAM127A	8933	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	134166535	134166535	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:134166535C>A	ENST00000257013.7	+	1	203	c.122C>A	c.(121-123)cCg>cAg	p.P41Q	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GACCGACTCCCGGAGTTCATC	0.622																																					p.P41Q		.											.	.	.	0			c.C122A						.						102	105	104					X																	134166535		2169	4245	6414	SO:0001583	missense	8933	exon1			GACTCCCGGAGTT	Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"CAAX box 1"	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.122C>A	X.37:g.134166535C>A	ENSP00000257013:p.Pro41Gln	87	0		101	28	NM_001078171	Q6IBF1	Missense_Mutation	SNP	ENST00000257013.7	37	CCDS43997.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204558	0.79127	.	.	ENSG00000134590	ENST00000257013	T	0.32272	1.46	3.95	3.95	0.45737	.	.	.	.	.	T	0.38241	0.1033	L	0.52759	1.655	0.28050	N	0.933384	D	0.55385	0.971	P	0.55999	0.789	T	0.09079	-1.0691	9	0.15499	T	0.54	.	10.4135	0.44307	0.0:1.0:0.0:0.0	.	41	A6ZKI3	F127A_HUMAN	Q	41	ENSP00000257013:P41Q	ENSP00000257013:P41Q	P	+	2	0	FAM127A	133994201	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	2.563000	0.45922	2.215000	0.71742	0.538000	0.68166	CCG	.		0.622	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2	NM_001078171		A	134166535	C	A	134166535	3	1	15	1	0	0	0	0	1	0	0	0	5450	652	23	2	124	2	FAM127A	23	134166535	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	4965369	134166535	21104025	173	2146											
ZNF449	203523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	134494603	134494603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:134494603C>T	ENST00000339249.4	+	5	1299	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	387					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)					ATGTAAAAAGCGATTCACTCG	0.428																																					p.R387X		.											.	.	.	0			c.C1159T						.						103	100	101					X																	134494603		2203	4298	6501	SO:0001587	stop_gained	203523	exon5			AAAAAGCGATTCA	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.1159C>T	X.37:g.134494603C>T	ENSP00000339585:p.Arg387*	28	0		75	32	NM_152695	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Nonsense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546768	0.65198	.	.	ENSG00000173275	ENST00000339249	.	.	.	4.49	3.55	0.40652	.	0.000000	0.35936	N	0.002881	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	8.4042	0.32605	0.349:0.651:0.0:0.0	.	.	.	.	X	387	.	ENSP00000339585:R387X	R	+	1	2	ZNF449	134322269	0.340000	0.24792	0.997000	0.53966	0.128000	0.20619	0.183000	0.16919	2.228000	0.72767	0.600000	0.82982	CGA	.		0.428	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		T	134494603	C	T	134494603	4	4	15	1	0	0	0	0	0	1	0	0	17968	760	27	1	1173	1	ZNF449	23	134494603	Nonsense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	328068	134494603	20775957	174	2147											
MAGEC1	9947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	140995729	140995729	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:140995729C>A	ENST00000285879.4	+	4	2825	c.2539C>A	c.(2539-2541)Cct>Act	p.P847T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	847										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)					CAAGAGTTCCCCTGAGAGTCC	0.522										HNSCC(15;0.026)																											p.P847T		.											.	.	.	0			c.C2539A						.						122	128	126					X																	140995729		2203	4300	6503	SO:0001583	missense	9947	exon4			AGTTCCCCTGAGA	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.2539C>A	X.37:g.140995729C>A	ENSP00000285879:p.Pro847Thr	43	0		71	22	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	9.849	1.193154	0.22037	.	.	ENSG00000155495	ENST00000285879	T	0.02121	4.44	0.548	-1.1	0.09872	.	.	.	.	.	T	0.02304	0.0071	N	0.14661	0.345	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.46176	-0.9210	9	0.66056	D	0.02	.	4.8033	0.13307	0.3498:0.6502:0.0:1.0E-4	.	847	O60732	MAGC1_HUMAN	T	847	ENSP00000285879:P847T	ENSP00000285879:P847T	P	+	1	0	MAGEC1	140823395	0.001000	0.12720	0.005000	0.12908	0.149000	0.21700	-0.135000	0.10420	-0.635000	0.05531	0.171000	0.16805	CCT	.		0.522	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140995729	C	A	140995729	3	1	15	1	0	0	0	0	1	0	0	0	9218	623	22	3	2545	3	MAGEC1	23	140995729	Missense_Mutation	SNP	C	TCGA-W5-AA2U-01A-11D-A417-09	6501126	140995729	14274831	175	2148											
MAGEA1	4100	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	152482527	152482527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:152482527delC	ENST00000356661.5	-	3	702	c.484delG	c.(484-486)gcafs	p.A162fs		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	162	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGGTCTGCTTCCTTCACG	0.517																																					p.A162fs		.											.	.	.	0			c.485delC						.						122	113	116					X																	152482527		2203	4300	6503	SO:0001589	frameshift_variant	4100	exon3			GGTCTGCTTCCTT		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.484delG	X.37:g.152482527delC	ENSP00000349085:p.Ala162fs	63	0		71	24	NM_004988	B2RC81|O00346	Frame_Shift_Del	DEL	ENST00000356661.5	37	CCDS14720.1																																																																																			.		0.517	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		-	152482527	C	-	152482527	7	5	15	1	0	1	0	1	0	0	0	0	9199	797	28	0	449	0	MAGEA1	23	152482527	Frame_Shift_Del	DEL	C	TCGA-W5-AA2U-01A-11D-A417-09	11486798	152482527	2788033	176	2149	9	2									
MAGEA1	4100	bcgsc.ca	37	X	152482528	152482528	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2U-01A-11D-A417-09	TCGA-W5-AA2U-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0792d270-49b3-4526-9045-86541d7cb765	b017d225-02d9-4581-be93-d2341687c3da	g.chrX:152482528T>G	ENST00000356661.5	-	3	701	c.483A>C	c.(481-483)gaA>gaC	p.E161D		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	161	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGTCTGCTTCCTTCACGT	0.517																																					p.E161D													.	MAGEA1	57	0			c.A483C						.						123	114	117					X																	152482528		2203	4300	6503	SO:0001583	missense	4100	exon3			GTCTGCTTCCTTC		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.483A>C	X.37:g.152482528T>G	ENSP00000349085:p.Glu161Asp	65	0		69	24	NM_004988	B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	T	7.416	0.635719	0.14322	.	.	ENSG00000198681	ENST00000356661	T	0.08720	3.06	1.28	-1.83	0.07833	.	0.254655	0.43919	N	0.000504	T	0.11324	0.0276	M	0.89287	3.02	0.09310	N	1	B	0.11235	0.004	B	0.20767	0.031	T	0.29305	-1.0016	10	0.66056	D	0.02	.	2.2218	0.03974	0.0:0.2316:0.3158:0.4526	.	161	P43355	MAGA1_HUMAN	D	161	ENSP00000349085:E161D	ENSP00000349085:E161D	E	-	3	2	MAGEA1	152135722	0.009000	0.17119	0.002000	0.10522	0.003000	0.03518	-0.083000	0.11286	-0.595000	0.05828	-1.314000	0.01303	GAA	.		0.517	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		G	152482528	T	G	152482528	3	3	15	1	0	0	0	0	1	0	0	0	9199	1606	56	4	450	4	MAGEA1	23	152482528	Missense_Mutation	SNP	T	TCGA-W5-AA2U-01A-11D-A417-09	1	152482528	2788032	177	2150	9	2									
CHD5	26038	bcgsc.ca	37	1	6188616	6188616	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:6188616A>G	ENST00000262450.3	-	24	3772	c.3673T>C	c.(3673-3675)Tcc>Ccc	p.S1225P	CHD5_ENST00000378021.1_Missense_Mutation_p.S82P	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)		CCCCCTTTGGAGGACTGGACA	0.627																																					p.S1225P													.	CHD5	267	0			c.T3673C						.						56	57	57					1																	6188616		2203	4300	6503	SO:0001583	missense	26038	exon24			CTTTGGAGGACTG	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.3673T>C	1.37:g.6188616A>G	ENSP00000262450:p.Ser1225Pro	53	0		14	3	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648564	0.47258	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90844	-2.74;2.2	4.48	1.85	0.25348	.	0.600127	0.13979	N	0.349636	T	0.81216	0.4776	N	0.24115	0.695	0.26820	N	0.968819	B;B	0.28439	0.212;0.149	B;B	0.28784	0.094;0.026	T	0.71807	-0.4481	10	0.54805	T	0.06	-16.4781	4.2904	0.10876	0.4419:0.1648:0.0:0.3933	.	1225;82	Q8TDI0;Q5TG85	CHD5_HUMAN;.	P	1225;741;82;633;633;82	ENSP00000262450:S1225P;ENSP00000367260:S82P	ENSP00000262450:S1225P	S	-	1	0	CHD5	6111203	1.000000	0.71417	0.996000	0.52242	0.775000	0.43874	1.406000	0.34646	0.537000	0.28751	0.260000	0.18958	TCC	.		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		G	6188616	A	G	6188616	3	3	16	1	0	0	0	0	1	0	0	0	3335	304	11	4	2263	4	CHD5	1	6188616	Missense_Mutation	SNP	A	TCGA-W5-AA2W-01A-11D-A417-09		6188616	243062005	1	2151											
DNAJC16	23341	bcgsc.ca	37	1	15886125	15886125	+	Silent	SNP	T	T	C			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:15886125T>C	ENST00000375847.3	+	8	1292	c.1128T>C	c.(1126-1128)ccT>ccC	p.P376P	DNAJC16_ENST00000375838.1_Silent_p.P376P|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Silent_p.P376P	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	376					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		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)		AACTCTGCCCTGTGAAACGGT	0.438																																					p.P376P													.	DNAJC16	59	0			c.T1128C						.						123	117	119					1																	15886125		2203	4300	6503	SO:0001819	synonymous_variant	23341	exon8			CTGCCCTGTGAAA	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1128T>C	1.37:g.15886125T>C		50	0		23	3	NM_015291	Q68D57|Q86X32|Q8N5P4	Silent	SNP	ENST00000375847.3	37	CCDS30606.1																																																																																			.		0.438	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		C	15886125	T	C	15886125	2	2	16	1	0	0	0	0	0	0	0	1	4649	1567	55	4		4	DNAJC16	1	15886125	Silent	SNP	T	TCGA-W5-AA2W-01A-11D-A417-09	9697509	15886125	233364496	2	2152											
SPOCD1	90853	hgsc.bcm.edu	37	1	32280314	32280314	+	Silent	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:32280314C>T	ENST00000360482.2	-	2	750	c.621G>A	c.(619-621)aaG>aaA	p.K207K	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.K207K|SPOCD1_ENST00000373648.2_Silent_p.K207K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	207					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.K207N(1)		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)		TCCTCCATTTCTTTCTTACCC	0.587																																					p.K207K		.											SPOCD1,colon,carcinoma,0,1	SPOCD1	0	1	Substitution - Missense(1)	large_intestine(1)	c.G621A						.						107	103	104					1																	32280314		2203	4300	6503	SO:0001819	synonymous_variant	90853	exon2			CCATTTCTTTCTT	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.621G>A	1.37:g.32280314C>T		53	0		21	2	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	CCDS347.1																																																																																			.		0.587	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32280314	C	T	32280314	2	4	16	1	0	0	0	0	0	0	0	1	15125	912	32	3		3	SPOCD1	1	32280314	Silent	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	16394189	32280314	216970307	3	2153											
THRAP3	9967	hgsc.bcm.edu	37	1	36766611	36766611	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:36766611G>T	ENST00000354618.5	+	10	2652	c.2428G>T	c.(2428-2430)Gac>Tac	p.D810Y	THRAP3_ENST00000469141.2_Missense_Mutation_p.D810Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	810	Required for mRNA decay activity.				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)				CACGGGCTTTGACAAATCAAG	0.522			T	USP6	aneurysmal bone cysts																																p.D810Y	Pancreas(129;785 1795 20938 23278 32581)	.		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	THRAP3,NS,carcinoma,0,1	THRAP3	0	0			c.G2428T						.						83	77	79					1																	36766611		2203	4300	6503	SO:0001583	missense	9967	exon10			GGCTTTGACAAAT	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.2428G>T	1.37:g.36766611G>T	ENSP00000346634:p.Asp810Tyr	54	0		27	3	NM_005119	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079581	0.76528	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15952	2.38;2.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.44542	1.39	0.49915	D	0.999832	D	0.89917	1.0	D	0.70935	0.971	T	0.01945	-1.1242	10	0.72032	D	0.01	-13.6249	19.0254	0.92930	0.0:0.0:1.0:0.0	.	810	Q9Y2W1	TR150_HUMAN	Y	810	ENSP00000346634:D810Y;ENSP00000433825:D810Y	ENSP00000346634:D810Y	D	+	1	0	THRAP3	36539198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.310000	0.51911	2.822000	0.97130	0.650000	0.86243	GAC	.		0.522	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		T	36766611	G	T	36766611	3	4	16	1	0	0	0	0	1	0	0	0	15921	1290	45	3	2458	3	THRAP3	1	36766611	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	4486297	36766611	212484010	4	2154											
RAB3B	5865	broad.mit.edu	37	1	52385603	52385603	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:52385603C>A	ENST00000371655.3	-	5	868	c.656G>T	c.(655-657)tGc>tTc	p.C219F		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	219					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						CCTTGCCTAGCATGAGCAGTT	0.602																																					p.C219F													.	RAB3B	22	0			c.G656T						.						80	66	71					1																	52385603		2203	4300	6503	SO:0001583	missense	5865	exon5			GCCTAGCATGAGC	BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"RAB, member RAS oncogene"	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.656G>T	1.37:g.52385603C>A	ENSP00000360718:p.Cys219Phe	13	0		3	2	NM_002867	Q5VUL2|Q9BSI1	Missense_Mutation	SNP	ENST00000371655.3	37	CCDS560.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876503	0.91664	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.71934	-0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81784	-0.0774	10	0.87932	D	0	.	17.0076	0.86397	0.0:1.0:0.0:0.0	.	219	P20337	RAB3B_HUMAN	F	219	ENSP00000360718:C219F	ENSP00000360718:C219F	C	-	2	0	RAB3B	52158191	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.359000	0.79477	2.880000	0.98712	0.650000	0.86243	TGC	.		0.602	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867		A	52385603	C	A	52385603	3	1	16	1	0	0	0	0	1	0	0	0	12977	710	25	3	7	3	RAB3B	1	52385603	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	15618992	52385603	196865018	5	2155											
PALMD	54873	hgsc.bcm.edu	37	1	100152323	100152323	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:100152323C>T	ENST00000263174.4	+	4	718	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	PALMD_ENST00000605497.1_Missense_Mutation_p.R115W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	115					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.R115W(2)		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)		GTCAATTGAGCGGACAACAGA	0.333																																					p.R115W		.											PALMD,NS,carcinoma,0,2	PALMD	0	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C343T						.						83	91	88					1																	100152323		2203	4300	6503	SO:0001583	missense	54873	exon4			ATTGAGCGGACAA	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.343C>T	1.37:g.100152323C>T	ENSP00000263174:p.Arg115Trp	133	0		35	2	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772301	0.69992	.	.	ENSG00000099260	ENST00000263174	T	0.17370	2.28	5.87	3.52	0.40303	.	0.191850	0.56097	D	0.000039	T	0.24547	0.0595	L	0.56769	1.78	0.34706	D	0.727288	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	T	0.08743	-1.0707	10	0.87932	D	0	-9.4698	13.0487	0.58942	0.735:0.2649:0.0:0.0	.	115;35	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	W	115	ENSP00000263174:R115W	ENSP00000263174:R115W	R	+	1	2	PALMD	99924911	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.301000	0.51842	0.545000	0.28902	-0.262000	0.10625	CGG	.		0.333	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		T	100152323	C	T	100152323	3	4	16	1	0	0	0	0	1	0	0	0	11450	759	27	1	357	1	PALMD	1	100152323	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	47766720	100152323	149098298	6	2156											
COL11A1	1301	hgsc.bcm.edu;bcgsc.ca	37	1	103455077	103455077	+	Silent	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:103455077G>A	ENST00000370096.3	-	29	2703	c.2391C>T	c.(2389-2391)gaC>gaT	p.D797D	COL11A1_ENST00000512756.1_Silent_p.D681D|COL11A1_ENST00000358392.2_Silent_p.D809D|COL11A1_ENST00000353414.4_Silent_p.D758D	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	797	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)		TACTTACTCTGTCACCTTTTA	0.289																																					p.D809D		.											.	.	.	0			c.C2427T						.						70	71	71					1																	103455077		2203	4298	6501	SO:0001819	synonymous_variant	1301	exon29			TACTCTGTCACCT	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.2391C>T	1.37:g.103455077G>A		225	0		79	4	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																			.		0.289	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103455077	G	A	103455077	2	1	16	1	0	0	0	0	0	0	0	1	3674	1368	48	3		3	COL11A1	1	103455077	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	3302754	103455077	145795544	7	2157											
ZNF697	90874	bcgsc.ca	37	1	120166656	120166656	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:120166656G>A	ENST00000421812.2	-	3	429	c.310C>T	c.(310-312)Cca>Tca	p.P104S		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	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)			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)		GACAGTCCTGGGAACATCGCC	0.597																																					p.P104S													.	ZNF697	26	0			c.C310T						.						53	61	59					1																	120166656		2113	4233	6346	SO:0001583	missense	90874	exon3			GTCCTGGGAACAT	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.310C>T	1.37:g.120166656G>A	ENSP00000396857:p.Pro104Ser	33	0		14	3	NM_001080470	Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219566	0.01542	.	.	ENSG00000143067	ENST00000421812	T	0.08546	3.08	4.61	0.316	0.15857	.	.	.	.	.	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48269	-0.9050	9	0.11182	T	0.66	.	6.8635	0.24079	0.1701:0.2722:0.5578:0.0	.	104	Q5TEC3	ZN697_HUMAN	S	104	ENSP00000396857:P104S	ENSP00000396857:P104S	P	-	1	0	ZNF697	119968179	0.000000	0.05858	0.026000	0.17262	0.032000	0.12392	-0.686000	0.05161	0.116000	0.18110	0.563000	0.77884	CCA	.		0.597	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		A	120166656	G	A	120166656	3	1	16	1	0	0	0	0	1	0	0	0	18148	1232	43	3	1331	3	ZNF697	1	120166656	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	16711579	120166656	129083965	8	2158											
ATP1A2	477	hgsc.bcm.edu	37	1	160097563	160097563	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:160097563G>A	ENST00000361216.3	+	8	1059	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G324S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	324					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)			CTTCCTCATCGGCATCATAGT	0.597																																					p.G324S		.											ATP1A2,NS,carcinoma,0,2	ATP1A2	0	0			c.G970A						.						106	102	103					1																	160097563		2203	4300	6503	SO:0001583	missense	477	exon8			CTCATCGGCATCA	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.970G>A	1.37:g.160097563G>A	ENSP00000354490:p.Gly324Ser	22	0		37	2	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288490	0.95517	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.89617	-2.54;-2.54	4.65	4.65	0.58169	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	L	0.39326	1.205	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	0.91803	0.5453	10	0.66056	D	0.02	.	16.6527	0.85220	0.0:0.0:1.0:0.0	.	169;224;324	B4DHD7;F5GXJ7;P50993	.;.;AT1A2_HUMAN	S	169;324;324	ENSP00000354490:G324S;ENSP00000376066:G324S	ENSP00000354490:G324S	G	+	1	0	ATP1A2	158364187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.779000	0.99018	2.293000	0.77203	0.561000	0.74099	GGC	.		0.597	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		A	160097563	G	A	160097563	3	1	16	1	0	0	0	0	1	0	0	0	1130	1116	39	1	1000	1	ATP1A2	1	160097563	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	39930907	160097563	89153058	9	2159											
CACNA1E	777	ucsc.edu	37	1	181765857	181765857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:181765857G>T	ENST00000367573.2	+	47	6262	c.6262G>T	c.(6262-6264)Gag>Tag	p.E2088*	CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E1977*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E2069*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1652*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E2045*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.E2026*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E2039*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2088					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						ACGATCAAAAGAGCGAAAGCA	0.567																																					p.E2088X													.	CACNA1E	778	0			c.G6262T						.						48	51	50					1																	181765857		1981	4167	6148	SO:0001587	stop_gained	777	exon47			TCAAAAGAGCGAA	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.6262G>T	1.37:g.181765857G>T	ENSP00000356545:p.Glu2088*	18	0		27	4	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	49	15.075631	0.99821	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.91	5.91	0.95273	.	0.592140	0.17525	N	0.171086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	.	.	.	X	2045;2026;2039;1977;1652;2069;2088	.	ENSP00000350183:E2039X	E	+	1	0	CACNA1E	180032480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.004000	0.93583	2.793000	0.96121	0.655000	0.94253	GAG	.		0.567	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181765857	G	T	181765857	4	4	16	1	0	0	0	0	0	1	0	0	2549	943	33	3	6315	3	CACNA1E	1	181765857	Nonsense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	21668294	181765857	67484764	10	2160											
ZC3H11A	9877	broad.mit.edu	37	1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					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)			GAGAAACTAATATGGGAGATT	0.473																																					p.I777T													.	ZC3H11A	71	0			c.T2330C						.						55	56	56					1																	203821424		2203	4300	6503	SO:0001583	missense	9877	exon20			AACTAATATGGGA		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.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr	283	1		394	6	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA	.		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		C	203821424	T	C	203821424	3	2	16	1	0	0	0	0	1	0	0	0	17608	1406	49	4	2392	4	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-W5-AA2W-01A-11D-A417-09	22055567	203821424	45429197	11	2161											
C1orf186	440712	hgsc.bcm.edu	37	1	206243207	206243207	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:206243207G>T	ENST00000331555.5	-	3	693	c.55C>A	c.(55-57)Ctc>Atc	p.L19I		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	19						integral component of membrane (GO:0016021)		p.L19V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGCAGGAAGAGGGACACCACC	0.532																																					p.L19I		.											C1orf186,NS,carcinoma,0,1	C1orf186	0	1	Substitution - Missense(1)	breast(1)	c.C55A						.						128	112	117					1																	206243207		2203	4300	6503	SO:0001583	missense	440712	exon3			GGAAGAGGGACAC	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.55C>A	1.37:g.206243207G>T	ENSP00000356093:p.Leu19Ile	28	0		46	2	NM_001007544		Missense_Mutation	SNP	ENST00000331555.5	37	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133162	0.21041	.	.	ENSG00000196533	ENST00000331555	.	.	.	3.06	-1.12	0.09808	.	0.743246	0.11085	N	0.601405	T	0.20941	0.0504	L	0.32530	0.975	0.09310	N	1	B	0.25563	0.129	B	0.23419	0.046	T	0.27191	-1.0081	9	0.56958	D	0.05	-31.2944	0.5558	0.00670	0.2469:0.1923:0.3645:0.1963	.	19	Q6ZWK4	CA186_HUMAN	I	19	.	ENSP00000356093:L19I	L	-	1	0	C1orf186	204409830	0.002000	0.14202	0.001000	0.08648	0.152000	0.21847	0.031000	0.13710	-0.228000	0.09869	0.561000	0.74099	CTC	.		0.532	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		T	206243207	G	T	206243207	3	4	16	1	0	0	0	0	1	0	0	0	2027	1000	35	3	479	3	C1orf186	1	206243207	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	2421783	206243207	43007414	12	2162											
LAMB3	3914	hgsc.bcm.edu	37	1	209791986	209791986	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:209791986G>A	ENST00000356082.4	-	19	2854	c.2720C>T	c.(2719-2721)gCc>gTc	p.A907V	LAMB3_ENST00000391911.1_Missense_Mutation_p.A907V|LAMB3_ENST00000367030.3_Missense_Mutation_p.A907V	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	907	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)		CTGGATAGTGGCTGCATCAGT	0.577																																					p.A907V		.											LAMB3,NS,malignant_melanoma,0,1	LAMB3	0	0			c.C2720T						.						59	56	57					1																	209791986		2203	4300	6503	SO:0001583	missense	3914	exon19			ATAGTGGCTGCAT	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.2720C>T	1.37:g.209791986G>A	ENSP00000348384:p.Ala907Val	16	0		26	2	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113945	0.56398	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.22945	1.93;1.93;1.93	5.12	4.17	0.49024	.	0.117788	0.56097	D	0.000021	T	0.42607	0.1210	M	0.75447	2.3	0.43835	D	0.996418	P	0.52577	0.954	P	0.52710	0.707	T	0.42632	-0.9440	10	0.48119	T	0.1	.	14.8971	0.70651	0.0:0.1445:0.8555:0.0	.	907	Q13751	LAMB3_HUMAN	V	907	ENSP00000375778:A907V;ENSP00000348384:A907V;ENSP00000355997:A907V	ENSP00000348384:A907V	A	-	2	0	LAMB3	207858609	0.993000	0.37304	0.948000	0.38648	0.178000	0.23041	2.975000	0.49281	1.103000	0.41568	0.555000	0.69702	GCC	.		0.577	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209791986	G	A	209791986	3	1	16	1	0	0	0	0	1	0	0	0	8640	1203	42	3	818	3	LAMB3	1	209791986	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	3548779	209791986	39458635	13	2163											
LYPLAL1	127018	hgsc.bcm.edu	37	1	219384997	219384997	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:219384997G>T	ENST00000366928.5	+	5	688	c.641G>T	c.(640-642)aGc>aTc	p.S214I	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.S198I	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	214					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		CATGAGCTAAGCAAAACTGAG	0.338																																					p.S214I		.											.	.	.	0			c.G641T						.						109	109	109					1																	219384997		2203	4300	6503	SO:0001583	missense	127018	exon5			AGCTAAGCAAAAC	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.641G>T	1.37:g.219384997G>T	ENSP00000355895:p.Ser214Ile	70	0		94	4	NM_138794	A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	ENST00000366928.5	37	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918798	0.52546	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.22134	1.97;1.97	6.16	0.96	0.19631	Phospholipase/carboxylesterase/thioesterase (1);	0.487974	0.26075	N	0.026484	T	0.17492	0.0420	L	0.38649	1.16	0.09310	N	0.999994	D;P;P	0.58970	0.984;0.95;0.913	P;B;P	0.46299	0.484;0.377;0.511	T	0.11690	-1.0577	10	0.41790	T	0.15	.	8.6803	0.34205	0.6177:0.0:0.3823:0.0	.	90;198;214	B3KVW3;Q5VWZ2-2;Q5VWZ2	.;.;LYPL1_HUMAN	I	214;198	ENSP00000355895:S214I;ENSP00000355894:S198I	ENSP00000355894:S198I	S	+	2	0	LYPLAL1	217451620	0.792000	0.28813	0.435000	0.26784	0.804000	0.45430	0.333000	0.19768	0.130000	0.18549	0.650000	0.86243	AGC	.		0.338	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		T	219384997	G	T	219384997	3	4	16	1	0	0	0	0	1	0	0	0	9154	971	34	3	659	3	LYPLAL1	1	219384997	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	9593011	219384997	29865624	14	2164											
LBR	3930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:225607439T>C	ENST00000338179.2	-	4	553	c.428A>G	c.(427-429)gAc>gGc	p.D143G	LBR_ENST00000272163.4_Missense_Mutation_p.D143G|LBR_ENST00000487054.1_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	143					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.D143G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGAGGTGCGTCATTTCTCTC	0.348																																					p.D143G		.											LBR,NS,carcinoma,0,1	LBR	0	1	Substitution - Missense(1)	prostate(1)	c.A428G						.						140	144	143					1																	225607439		2203	4299	6502	SO:0001583	missense	3930	exon4			GGTGCGTCATTTC	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.428A>G	1.37:g.225607439T>C	ENSP00000339883:p.Asp143Gly	63	1		99	5	NM_194442	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	T	7.985	0.751990	0.15778	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080	D;D;T	0.97066	-4.23;-4.23;0.49	5.78	0.451	0.16629	.	0.771571	0.13241	N	0.402844	D	0.91415	0.7291	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.81837	-0.0749	10	0.25106	T	0.35	-10.4898	5.1942	0.15227	0.0:0.1625:0.2978:0.5397	.	143;143	C9JXK0;Q14739	.;LBR_HUMAN	G	143	ENSP00000272163:D143G;ENSP00000339883:D143G;ENSP00000388059:D143G	ENSP00000272163:D143G	D	-	2	0	LBR	223674062	0.017000	0.18338	0.001000	0.08648	0.004000	0.04260	0.395000	0.20850	0.104000	0.17725	0.459000	0.35465	GAC	.		0.348	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		C	225607439	T	C	225607439	3	2	16	1	0	0	0	0	1	0	0	0	8680	1667	58	4	1463	4	LBR	1	225607439	Missense_Mutation	SNP	T	TCGA-W5-AA2W-01A-11D-A417-09	6222442	225607439	23643182	15	2165											
OR2L13	284521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248263072	248263072	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr1:248263072C>T	ENST00000358120.2	+	2	540	c.395C>T	c.(394-396)cCt>cTt	p.P132L	OR2L13_ENST00000366478.2_Missense_Mutation_p.P132L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	132						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CTCTATTATCCTATCCGCATG	0.483																																					p.P132L		.											.	.	.	0			c.C395T						.						229	214	219					1																	248263072		2203	4300	6503	SO:0001583	missense	284521	exon3			ATTATCCTATCCG	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.395C>T	1.37:g.248263072C>T	ENSP00000350836:p.Pro132Leu	37	0		69	11	NM_175911	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	3.223	-0.159117	0.06544	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.19532	2.14;2.14	4.31	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.450109	0.18915	N	0.127633	T	0.18593	0.0446	L	0.60845	1.875	0.09310	N	1	P	0.44139	0.827	B	0.40199	0.322	T	0.14980	-1.0453	10	0.59425	D	0.04	.	4.6335	0.12513	0.1354:0.4811:0.2984:0.0851	.	132	Q8N349	OR2LD_HUMAN	L	132	ENSP00000355434:P132L;ENSP00000350836:P132L	ENSP00000350836:P132L	P	+	2	0	OR2L13	246329695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.835000	0.00741	0.420000	0.25954	-0.142000	0.14014	CCT	.		0.483	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		T	248263072	C	T	248263072	3	4	16	1	0	0	0	0	1	0	0	0	11045	681	24	3	397	3	OR2L13	1	248263072	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	22655633	248263072	987549	16	2166											
TTN	7273	hgsc.bcm.edu	37	2	179452261	179452261	+	Missense_Mutation	SNP	C	C	T	rs371286595		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr2:179452261C>T	ENST00000591111.1	-	256	59076	c.58852G>A	c.(58852-58854)Gta>Ata	p.V19618I	TTN_ENST00000342992.6_Missense_Mutation_p.V18691I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V12386I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12319I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V12194I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V21259I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19618					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.V12194L(1)|p.V12386L(1)|p.V12319L(1)|p.V18691L(1)|p.V18689L(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)			CTGACATTTACGAATACAGCC	0.408																																					p.V21259I		.											TTN_ENST00000359218,NS,carcinoma,0,5	TTN_ENST00000359218	0	5	Substitution - Missense(5)	breast(5)	c.G63775A						.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,3736		0,2,1867	79	69	73		36580,56071,36955,37156	6	1	2		73	0,8186		0,0,4093	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,2,5960	TT,TC,CC		0.0,0.0535,0.0168	probably-damaging,probably-damaging,probably-damaging,probably-damaging	12194/26927,18691/33424,12319/27052,12386/27119	179452261	2,11922	1869	4093	5962	SO:0001583	missense	7273	exon306			CATTTACGAATAC	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.58852G>A	2.37:g.179452261C>T	ENSP00000465570:p.Val19618Ile	30	0		18	2	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	15.45	2.837077	0.50951	5.35E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74329	0.3702	N	0.21282	0.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.76672	-0.2873	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12194;12319;12386;19618	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	18691;12194;12386;12319;12192	ENSP00000343764:V18691I;ENSP00000434586:V12194I;ENSP00000340554:V12386I;ENSP00000352154:V12319I	ENSP00000340554:V12386I	V	-	1	0	TTN	179160507	1.000000	0.71417	0.971000	0.41717	0.973000	0.67179	7.770000	0.85390	2.835000	0.97688	0.650000	0.86243	GTA	.		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179452261	C	T	179452261	3	4	16	1	0	0	0	0	1	0	0	0	16784	536	19	1	44432	1	TTN	2	179452261	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		179452261	63747112	17	2167											
GTF3C3	9330	hgsc.bcm.edu	37	2	197657764	197657764	+	Missense_Mutation	SNP	C	C	A	rs372304935|rs555178972		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr2:197657764C>A	ENST00000263956.3	-	3	416	c.327G>T	c.(325-327)gaG>gaT	p.E109D	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Missense_Mutation_p.E109D	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	109	Glu-rich.				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.E109E(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						GTGTTtcttcctcctcctcct	0.438																																					p.E109D		.											GTF3C3,colon,carcinoma,0,1	GTF3C3	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G327T						.						64	62	63					2																	197657764		2203	4300	6503	SO:0001583	missense	9330	exon3			TTCTTCCTCCTCC	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.327G>T	2.37:g.197657764C>A	ENSP00000263956:p.Glu109Asp	27	0		17	2	NM_001206774	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379229	0.24944	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.47177	0.9;0.85	2.47	-4.35	0.03656	.	0.192036	0.42821	D	0.000652	T	0.21761	0.0524	N	0.22421	0.69	0.26297	N	0.978037	B;B	0.19200	0.0;0.034	B;B	0.17098	0.001;0.017	T	0.23797	-1.0178	10	0.12430	T	0.62	-8.3787	5.0221	0.14367	0.1366:0.464:0.0:0.3994	.	109;109	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	D	109	ENSP00000263956:E109D;ENSP00000386465:E109D	ENSP00000263956:E109D	E	-	3	2	GTF3C3	197366009	0.746000	0.28272	0.929000	0.37066	0.971000	0.66376	-0.334000	0.07883	-0.987000	0.03494	0.484000	0.47621	GAG	.		0.438	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			A	197657764	C	A	197657764	3	1	16	1	0	0	0	0	1	0	0	0	6901	680	24	3	2397	3	GTF3C3	2	197657764	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	18205503	197657764	45541609	18	2168											
FAM117B	150864	bcgsc.ca	37	2	203630387	203630387	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr2:203630387C>T	ENST00000392238.2	+	8	1670	c.1670C>T	c.(1669-1671)aCa>aTa	p.T557I	FAM117B_ENST00000303116.6_Missense_Mutation_p.T313I			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	557										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCCCTGTCTACAAACACAGAG	0.537																																					p.T557I													.	FAM117B	73	0			c.C1670T						.						129	118	122					2																	203630387		2203	4300	6503	SO:0001583	missense	150864	exon8			TGTCTACAAACAC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1670C>T	2.37:g.203630387C>T	ENSP00000376071:p.Thr557Ile	45	0		22	3	NM_173511	Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322591	0.41096	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.61	4.73	0.59995	.	0.351400	0.28026	N	0.016881	T	0.28433	0.0703	N	0.22421	0.69	0.28779	N	0.89993	B	0.19583	0.037	B	0.15484	0.013	T	0.15896	-1.0421	9	0.41790	T	0.15	-20.6095	10.2332	0.43266	0.0:0.7934:0.1352:0.0714	.	557	Q6P1L5	F117B_HUMAN	I	313;557	.	ENSP00000306299:T313I	T	+	2	0	FAM117B	203338632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.669000	0.61575	1.357000	0.45904	0.561000	0.74099	ACA	.		0.537	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		T	203630387	C	T	203630387	3	4	16	1	0	0	0	0	1	0	0	0	5429	478	17	3	1700	3	FAM117B	2	203630387	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	5972623	203630387	39568986	19	2169											
ACCN4	55515	hgsc.bcm.edu	37	2	220397179	220397179	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr2:220397179G>A	ENST00000347842.3	+	4	1393	c.1379G>A	c.(1378-1380)tGc>tAc	p.C460Y	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000358078.4_Missense_Mutation_p.C460Y	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	460					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)	p.C460Y(1)									CGCTGCCACTGCCGGATGGTG	0.662																																					p.C460Y		.											ACCN4,NS,carcinoma,0,1	ACCN4	0	1	Substitution - Missense(1)	endometrium(1)	c.G1379A						.						39	37	38					2																	220397179		2203	4300	6503	SO:0001583	missense	55515	exon4			GCCACTGCCGGAT	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.1379G>A	2.37:g.220397179G>A	ENSP00000326627:p.Cys460Tyr	21	0		18	2	NM_182847	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185991	0.78789	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	D;D	0.90563	-2.69;-2.69	4.1	4.1	0.47936	Na+ channel, amiloride-sensitive, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96166	0.8750	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.967;0.998	D	0.97208	0.9869	10	0.87932	D	0	-17.8674	16.5064	0.84273	0.0:0.0:1.0:0.0	.	460;460	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	Y	460	ENSP00000326627:C460Y;ENSP00000350786:C460Y	ENSP00000326627:C460Y	C	+	2	0	ACCN4	220105423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.473000	0.97714	2.305000	0.77605	0.561000	0.74099	TGC	.		0.662	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		A	220397179	G	A	220397179	3	1	16	1	0	0	0	0	1	0	0	0	131	1319	46	3	1393	3	ACCN4	2	220397179	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	16766792	220397179	22802194	20	2170											
ATG16L1	55054	bcgsc.ca	37	2	234164841	234164841	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr2:234164841G>T	ENST00000392017.4	+	2	466	c.209G>T	c.(208-210)aGt>aTt	p.S70I	ATG16L1_ENST00000392020.4_Splice_Site_p.S70I|ATG16L1_ENST00000373525.5_Splice_Site_p.R70M|ATG16L1_ENST00000347464.5_Splice_Site_p.R70M|ATG16L1_ENST00000392018.1_Splice_Site_p.S70I	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)	70					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)		CACGAGATAAGGTATTTTGAA	0.338																																					p.R70M													.	ATG16L1	83	0			c.G209T						.						62	62	62					2																	234164841		1850	4083	5933	SO:0001630	splice_region_variant	55054	exon2			AGATAAGGTATTT	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.209+1G>T	2.37:g.234164841G>T		63	0		46	4	NM_198890	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.394221|4.394221	0.83011|0.83011	.|.	.|.	ENSG00000085978|ENSG00000085978	ENST00000347464;ENST00000444735;ENST00000373525;ENST00000419681|ENST00000392017;ENST00000417017;ENST00000392020;ENST00000392018	T;T;T;T|T;T;T	0.52295|0.53423	0.76;0.67;0.7;1.32|0.63;0.63;0.62	5.7|5.7	4.81|4.81	0.61882|0.61882	.|Autophagy-related protein 16 (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.70290|0.70290	0.3207|0.3207	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D|D;D	0.76494|0.89917	0.998;0.999|1.0;1.0	D;D|D;D	0.70227|0.91635	0.959;0.968|0.999;0.999	T|T	0.75725|0.75725	-0.3217|-0.3217	9|10	0.87932|0.87932	D|D	0|0	.|.	16.7652|16.7652	0.85522|0.85522	0.0:0.129:0.871:0.0|0.0:0.129:0.871:0.0	.|.	70;70|70;70	Q676U5-4;A3EXL0|Q676U5-2;Q676U5	.;.|.;A16L1_HUMAN	M|I	70|70	ENSP00000318259:R70M;ENSP00000409215:R70M;ENSP00000362625:R70M;ENSP00000398773:R70M|ENSP00000375872:S70I;ENSP00000375875:S70I;ENSP00000375873:S70I	ENSP00000318259:R70M|ENSP00000375872:S70I	R|S	+|+	2|2	0|0	ATG16L1|ATG16L1	233829580|233829580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.201000|7.201000	0.77847|0.77847	1.384000|1.384000	0.46424|0.46424	0.655000|0.655000	0.94253|0.94253	AGG|AGT	.		0.338	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974	Missense_Mutation	T	234164841	G	T	234164841	5	4	16	1	0	0	0	0	0	0	1	0	1092	1014	35	3	215	3	ATG16L1	2	234164841	Splice_Site	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	13767662	234164841	9034532	21	2171											
COL6A3	1293	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	238280843	238280843	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr2:238280843C>T	ENST00000295550.4	-	9	4269	c.3817G>A	c.(3817-3819)Gtc>Atc	p.V1273I	COL6A3_ENST00000392004.3_Missense_Mutation_p.V1067I|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1067I|COL6A3_ENST00000392003.2_Missense_Mutation_p.V866I|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1067I|COL6A3_ENST00000472056.1_Missense_Mutation_p.V666I|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1073I|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1072I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1273	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)		AACTGGATGACAGCCACCCGG	0.607																																					p.V1273I		.											.	.	.	0			c.G3817A						.						51	46	48					2																	238280843		2203	4300	6503	SO:0001583	missense	1293	exon9			GGATGACAGCCAC	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.3817G>A	2.37:g.238280843C>T	ENSP00000295550:p.Val1273Ile	30	0		20	4	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397739	0.83120	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.73	5.73	0.89815	von Willebrand factor, type A (3);	0.000000	0.49305	D	0.000154	T	0.64649	0.2617	M	0.62016	1.91	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;0.989;0.999;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.951;0.999;0.998;0.951	T	0.62656	-0.6808	10	0.51188	T	0.08	.	19.8991	0.96978	0.0:1.0:0.0:0.0	.	666;866;1067;1067;1273	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	I	1273;1072;1067;666;1067;1073;1067;866	ENSP00000295550:V1273I;ENSP00000315609:V1072I;ENSP00000315873:V1067I;ENSP00000418285:V666I;ENSP00000386844:V1067I;ENSP00000295546:V1073I;ENSP00000375861:V1067I;ENSP00000375860:V866I	ENSP00000295550:V1273I	V	-	1	0	COL6A3	237945582	1.000000	0.71417	0.942000	0.38095	0.720000	0.41350	5.721000	0.68477	2.708000	0.92522	0.655000	0.94253	GTC	.		0.607	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238280843	C	T	238280843	3	4	16	1	0	0	0	0	1	0	0	0	3708	478	17	3	5907	3	COL6A3	2	238280843	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	4116002	238280843	4918530	22	2172											
LRRFIP1	9208	hgsc.bcm.edu	37	2	238672115	238672115	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr2:238672115A>T	ENST00000392000.4	+	11	1876	c.1759A>T	c.(1759-1761)Acc>Tcc	p.T587S	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.T563S|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.T531S	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	587	Lys-rich.				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)		ACCCGTAGAAACCCTTAAAGA	0.378																																					p.T587S		.											LRRFIP1_ENST00000392000,NS,carcinoma,0,2	LRRFIP1_ENST00000392000	0	0			c.A1759T						.						43	46	45					2																	238672115		2201	4295	6496	SO:0001583	missense	9208	exon11			GTAGAAACCCTTA	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.1759A>T	2.37:g.238672115A>T	ENSP00000375857:p.Thr587Ser	72	0		44	2	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	9.922	1.212350	0.22289	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.12774	2.66;2.65;2.68	5.86	-7.64	0.01286	.	0.878379	0.10106	N	0.715379	T	0.06735	0.0172	L	0.32530	0.975	0.09310	N	1	B;B;B	0.25667	0.131;0.013;0.063	B;B;B	0.21151	0.033;0.009;0.019	T	0.37731	-0.9693	10	0.48119	T	0.1	-13.8144	2.86	0.05584	0.252:0.2674:0.0614:0.4192	.	531;587;563	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	S	531;563;587	ENSP00000289175:T531S;ENSP00000244815:T563S;ENSP00000375857:T587S	ENSP00000244815:T563S	T	+	1	0	LRRFIP1	238336854	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-0.688000	0.05150	-0.474000	0.06862	0.533000	0.62120	ACC	.		0.378	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		T	238672115	A	T	238672115	3	4	16	1	0	0	0	0	1	0	0	0	9062	43	2	5	2477	5	LRRFIP1	2	238672115	Missense_Mutation	SNP	A	TCGA-W5-AA2W-01A-11D-A417-09	391272	238672115	4527258	23	2173											
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52440307	52440307	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr3:52440307T>A	ENST00000460680.1	-	9	1216	c.745A>T	c.(745-747)Aag>Tag	p.K249*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.K231*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CGGTTCACCTTCAGCACATGC	0.607			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.K249X	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	.	.	0			c.A745T						.						133	97	109					3																	52440307		2203	4300	6503	SO:0001587	stop_gained	8314	exon9			TCACCTTCAGCAC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.745A>T	3.37:g.52440307T>A	ENSP00000417132:p.Lys249*	24	0		11	8	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	41	8.800411	0.98958	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.643	16.4054	0.83662	0.0:0.0:0.0:1.0	.	.	.	.	X	249;231	.	ENSP00000296288:K231X	K	-	1	0	BAP1	52415347	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.005000	0.88553	2.282000	0.76494	0.528000	0.53228	AAG	.		0.607	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52440307	T	A	52440307	4	1	16	1	0	0	0	0	0	1	0	0	1312	1792	62	5	1480	5	BAP1	3	52440307	Nonsense_Mutation	SNP	T	TCGA-W5-AA2W-01A-11D-A417-09		52440307	145582123	24	2174											
GFM1	85476	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	158362500	158362511	+	Splice_Site	DEL	AGCAGGTACCGG	AGCAGGTACCGG	-	rs574200635|rs555757931	byFrequency	TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	AGCAGGTACCGG	AGCAGGTACCGG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr3:158362500_158362511delAGCAGGTACCGG	ENST00000486715.1	+	1	434_438	c.77_81delAGCAGGTACCGG	c.(76-81)aagcag>a	p.KQ26del	GFM1_ENST00000478576.1_Splice_Site_p.KQ26del|GFM1_ENST00000264263.5_Splice_Site_p.KQ26del	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)			TGGCAGAGGAAGCAGGTACCGGAGCATAGAGA	0.637											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.26_27del		.											.	.	.	0			c.76_81del						.																																			SO:0001630	splice_region_variant	85476	exon1			AGAGGAAGCAGGT	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.81+1AGCAGGTACCGG>-	3.37:g.158362500_158362511delAGCAGGTACCGG		77	0	1793	46	11	NM_024996		In_Frame_Del	DEL	ENST00000486715.1	37	CCDS33885.1																																																																																			.		0.637	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	In_Frame_Del	-	158362511	AGCAGGTACCGG	-	158362500	8	5	16	1	0	1	0	1	0	0	1	0	6367	72	3	0	79	0	GFM1	3	158362500	Splice_Site	DEL	AGCAGGTACCGG	TCGA-W5-AA2W-01A-11D-A417-09	105922193	158362500	39659930	25	2175											
ACSL6	23305	bcgsc.ca	37	5	131329781	131329781	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr5:131329781G>T	ENST00000379240.1	-	2	291	c.138C>A	c.(136-138)caC>caA	p.H46Q	ACSL6_ENST00000296869.4_Missense_Mutation_p.H71Q|ACSL6_ENST00000543479.1_Missense_Mutation_p.H46Q|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000379264.2_Missense_Mutation_p.H71Q|ACSL6_ENST00000379249.3_Missense_Mutation_p.H46Q|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379246.1_Missense_Mutation_p.H57Q|ACSL6_ENST00000379272.2_Missense_Mutation_p.H46Q|ACSL6_ENST00000379244.1_Missense_Mutation_p.H46Q			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	46				H -> Q (in Ref. 1; AAD47199). {ECO:0000305}.	acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|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)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTTGGCCGGTGAGTGAACC	0.587																																					p.H71Q													.	ACSL6	169	0			c.C213A						.						66	58	60					5																	131329781		2203	4300	6503	SO:0001583	missense	23305	exon2			TGGCCGGTGAGTG	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.138C>A	5.37:g.131329781G>T	ENSP00000368542:p.His46Gln	31	0		15	3	NM_001009185	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	G	14.58	2.578265	0.45902	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000379240;ENST00000543479;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078	T;T;T;T;T;T;T;T;T	0.39787	2.04;2.78;2.63;2.78;2.78;2.78;2.78;2.78;1.06	5.6	1.78	0.24846	.	0.332604	0.37304	N	0.002158	T	0.29061	0.0722	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.19445	0.036;0.016;0.021;0.036;0.016	B;B;B;B;B	0.30251	0.113;0.02;0.053;0.033;0.02	T	0.06643	-1.0815	10	0.36615	T	0.2	.	11.5673	0.50813	0.2888:0.0:0.7112:0.0	.	46;46;46;71;71	Q9UKU0-3;Q9UKU0-6;Q9UKU0;Q9UKU0-1;Q9UKU0-8	.;.;ACSL6_HUMAN;.;.	Q	46;71;46;71;57;46;46;46;46;46;46;46	ENSP00000368551:H46Q;ENSP00000368566:H71Q;ENSP00000368574:H46Q;ENSP00000296869:H71Q;ENSP00000368548:H57Q;ENSP00000368546:H46Q;ENSP00000368542:H46Q;ENSP00000442124:H46Q;ENSP00000398423:H46Q	ENSP00000296869:H71Q	H	-	3	2	ACSL6	131357680	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.102000	0.41796	0.326000	0.23384	0.591000	0.81541	CAC	.		0.587	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		T	131329781	G	T	131329781	3	4	16	1	0	0	0	0	1	0	0	0	181	1252	44	3	2117	3	ACSL6	5	131329781	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09		131329781	49585479	26	2176											
ANKHD1	54882	hgsc.bcm.edu	37	5	139885404	139885404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr5:139885404C>T	ENST00000360839.2	+	18	3512	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R1120*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.R1120*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1120						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)			ACAGTCTGAACGAACTAAGGA	0.388																																					p.R1120X		.											.	.	.	0			c.C3358T						.						245	225	232					5																	139885404		2203	4300	6503	SO:0001587	stop_gained	54882	exon18			TCTGAACGAACTA	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.3358C>T	5.37:g.139885404C>T	ENSP00000354085:p.Arg1120*	59	0		43	4	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	43	10.177067	0.99353	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4529	0.94875	0.0:1.0:0.0:0.0	.	.	.	.	X	1120;1153;1120;1120;654;331;1139;273;1120	.	ENSP00000432016:R1120X	R	+	1	2	ANKHD1-EIF4EBP3;ANKHD1	139865588	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.198000	0.42705	2.595000	0.87683	0.655000	0.94253	CGA	.		0.388	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		T	139885404	C	T	139885404	4	4	16	1	0	0	0	0	0	1	0	0	628	528	19	1	3534	1	ANKHD1	5	139885404	Nonsense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	8555623	139885404	41029856	27	2177											
TRIM40	135644	hgsc.bcm.edu	37	6	30113806	30113806	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr6:30113806G>T	ENST00000396581.1	+	3	767	c.381G>T	c.(379-381)aaG>aaT	p.K127N	TRIM40_ENST00000376724.2_Missense_Mutation_p.K127N|TRIM40_ENST00000307859.4_Missense_Mutation_p.K127N			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	127					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						AGCTCAGAAAGGACATTGCAG	0.567																																					p.K127N		.											.	.	.	0			c.G381T						.						71	60	64					6																	30113806		1511	2709	4220	SO:0001583	missense	135644	exon2			CAGAAAGGACATT	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.381G>T	6.37:g.30113806G>T	ENSP00000379826:p.Lys127Asn	50	0		40	3	NM_138700	Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37		.	.	.	.	.	.	.	.	.	.	G	8.242	0.807095	0.16467	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	T;T;T	0.69435	-0.28;-0.28;-0.4	4.71	0.283	0.15696	.	0.000000	0.50627	D	0.000114	T	0.32466	0.0830	L	0.39245	1.2	0.09310	N	0.999997	B;B	0.15473	0.013;0.013	B;B	0.14023	0.01;0.01	T	0.36163	-0.9759	10	0.66056	D	0.02	.	7.3875	0.26891	0.4529:0.0:0.5471:0.0	.	127;127	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	N	127	ENSP00000379826:K127N;ENSP00000365914:K127N;ENSP00000308310:K127N	ENSP00000308310:K127N	K	+	3	2	TRIM40	30221785	0.466000	0.25823	0.054000	0.19295	0.461000	0.32589	0.344000	0.19962	-0.212000	0.10109	-0.262000	0.10625	AAG	.		0.567	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			T	30113806	G	T	30113806	3	4	16	1	0	0	0	0	1	0	0	0	16563	991	35	3	387	3	TRIM40	6	30113806	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09		30113806	141001261	28	2178											
C6orf81	221481	hgsc.bcm.edu	37	6	35716414	35716414	+	Missense_Mutation	SNP	G	G	A	rs200490512		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr6:35716414G>A	ENST00000373866.3	+	6	812	c.790G>A	c.(790-792)Gca>Aca	p.A264T	ARMC12_ENST00000288065.2_Missense_Mutation_p.A291T|ARMC12_ENST00000373869.3_Missense_Mutation_p.A254T			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	264						nucleus (GO:0005634)											GGGCCGGAACGCACCCCACTA	0.557																																					p.A291T		.											C6orf81,colon,carcinoma,0,1	C6orf81	0	0			c.G871A						.	G	THR/ALA	0,4406		0,0,2203	103	92	96		871	-2.1	0	6		96	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C6orf81	NM_145028.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	291/368	35716414	3,13003	2203	4300	6503	SO:0001583	missense	221481	exon6			CGGAACGCACCCC	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.790G>A	6.37:g.35716414G>A	ENSP00000362973:p.Ala264Thr	22	0		23	2	NM_145028	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		.	.	.	.	.	.	.	.	.	.	G	4.970	0.180128	0.09443	0.0	3.49E-4	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.63096	1.56;-0.02;-0.02	4.89	-2.14	0.07123	.	0.748593	0.11839	N	0.524513	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.06405	0.001;0.002	T	0.24083	-1.0170	10	0.17832	T	0.49	.	5.2849	0.15696	0.2301:0.0:0.3279:0.442	.	254;291	Q5T9G4-3;Q5T9G4-2	.;.	T	254;291;264	ENSP00000362976:A254T;ENSP00000288065:A291T;ENSP00000362973:A264T	ENSP00000288065:A291T	A	+	1	0	C6orf81	35824392	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.563000	0.05943	-0.735000	0.04837	0.650000	0.86243	GCA	.		0.557	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		A	35716414	G	A	35716414	3	1	16	1	0	0	0	0	1	0	0	0	2379	1087	38	1	893	1	C6orf81	6	35716414	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	5602608	35716414	135398653	29	2179											
SPATS1	221409	ucsc.edu	37	6	44310855	44310855	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr6:44310855G>T	ENST00000288390.2	+	1	370	c.23G>T	c.(22-24)gGa>gTa	p.G8V	RP11-444E17.6_ENST00000505802.1_Intron|SPATS1_ENST00000323108.8_Missense_Mutation_p.G8V			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	8			G -> R (in dbSNP:rs10948132). {ECO:0000269|PubMed:15489334}.							NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGCTCACTGGAAACAGTCCA	0.502																																					p.G8V													.	SPATS1	61	0			c.G23T						.						63	59	60					6																	44310855		2203	4300	6503	SO:0001583	missense	221409	exon2			TCACTGGAAACAG	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.23G>T	6.37:g.44310855G>T	ENSP00000424400:p.Gly8Val	35	0		35	4	NM_145026	Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	CCDS4911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.41|14.41	2.527821|2.527821	0.44969|0.44969	.|.	.|.	ENSG00000249481|ENSG00000249481	ENST00000515220|ENST00000323108;ENST00000288390	.|T;T	.|0.55234	.|0.53;0.53	3.43|3.43	3.43|3.43	0.39272|0.39272	.|.	.|0.233763	.|0.22137	.|N	.|0.064107	.|T	.|0.55784	.|0.1942	L|L	0.57536|0.57536	1.79|1.79	0.19575|0.19575	N|N	0.999961|0.999961	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.41840	.|-0.9486	.|10	.|0.87932	.|D	.|0	.|.	10.6724|10.6724	0.45766|0.45766	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|8	.|Q496A3	.|SPAS1_HUMAN	X|V	42|8	.|ENSP00000437552:G8V;ENSP00000424400:G8V	.|ENSP00000424400:G8V	E|G	+|+	1|2	0|0	SPATS1|SPATS1	44418833|44418833	0.010000|0.010000	0.17322|0.17322	0.015000|0.015000	0.15790|0.15790	0.016000|0.016000	0.09150|0.09150	1.278000|1.278000	0.33179|0.33179	2.229000|2.229000	0.72834|0.72834	0.563000|0.563000	0.77884|0.77884	GAA|GGA	.		0.502	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		T	44310855	G	T	44310855	3	4	16	1	0	0	0	0	1	0	0	0	15065	1174	41	3	25	3	SPATS1	6	44310855	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	8594441	44310855	126804212	30	2180											
GJA1	2697	hgsc.bcm.edu;bcgsc.ca	37	6	121768335	121768335	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr6:121768335G>T	ENST00000282561.3	+	2	499	c.342G>T	c.(340-342)aaG>aaT	p.K114N		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	114					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)	AAGAACTCAAGGTTGCCCAAA	0.418																																					p.K114N		.											GJA1,NS,carcinoma,0,1	GJA1	0	0			c.G342T						.						115	104	108					6																	121768335		2203	4300	6503	SO:0001583	missense	2697	exon2			ACTCAAGGTTGCC	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.342G>T	6.37:g.121768335G>T	ENSP00000282561:p.Lys114Asn	60	0		18	3	NM_000165	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680668	0.29872	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97529	-4.42	5.09	1.42	0.22433	.	2.607710	0.02499	N	0.090260	D	0.93093	0.7801	M	0.67953	2.075	0.49798	D	0.999829	B	0.27229	0.172	B	0.18871	0.023	D	0.85425	0.1145	10	0.51188	T	0.08	.	9.0847	0.36574	0.6004:0.0:0.3996:0.0	.	114	P17302	CXA1_HUMAN	N	98;114	ENSP00000282561:K114N	ENSP00000282561:K114N	K	+	3	2	GJA1	121810034	0.980000	0.34600	0.998000	0.56505	0.090000	0.18270	0.416000	0.21198	0.279000	0.22186	0.460000	0.39030	AAG	.		0.418	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		T	121768335	G	T	121768335	3	4	16	1	0	0	0	0	1	0	0	0	6426	991	35	3	344	3	GJA1	6	121768335	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	77457480	121768335	49346732	31	2181											
CTGF	1490	bcgsc.ca	37	6	132270556	132270556	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr6:132270556T>G	ENST00000367976.3	-	5	1098	c.898A>C	c.(898-900)Acc>Ccc	p.T300P	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	300	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				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)		ACCGGCAGGGTGGTGGTTCTG	0.537																																					p.T300P	Esophageal Squamous(127;510 1660 12817 24400 38449)												.	CTGF	36	0			c.A898C						.						159	156	157					6																	132270556		2203	4300	6503	SO:0001583	missense	1490	exon5			GCAGGGTGGTGGT	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.898A>C	6.37:g.132270556T>G	ENSP00000356954:p.Thr300Pro	77	3		35	9	NM_001901	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800569	0.70567	.	.	ENSG00000118523	ENST00000367976	T	0.41065	1.01	5.55	4.4	0.53042	Cystine knot (1);Cystine knot, C-terminal (3);	0.051143	0.85682	D	0.000000	T	0.58750	0.2144	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67461	-0.5665	10	0.87932	D	0	.	11.4058	0.49898	0.0:0.0707:0.0:0.9293	.	300	P29279	CTGF_HUMAN	P	300	ENSP00000356954:T300P	ENSP00000356954:T300P	T	-	1	0	CTGF	132312249	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	7.997000	0.88414	1.055000	0.40461	0.477000	0.44152	ACC	.		0.537	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132270556	T	G	132270556	3	3	16	1	0	0	0	0	1	0	0	0	4017	1696	59	4	155	4	CTGF	6	132270556	Missense_Mutation	SNP	T	TCGA-W5-AA2W-01A-11D-A417-09	10502221	132270556	38844511	32	2182											
MGC87042	256227	hgsc.bcm.edu;bcgsc.ca	37	7	22533072	22533072	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr7:22533072C>A	ENST00000406890.2	-	3	505	c.411G>T	c.(409-411)aaG>aaT	p.K137N	STEAP1B_ENST00000404369.4_Missense_Mutation_p.K156N	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	137						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						TTAACATCCACTTATCCAACC	0.403																																					p.K156N		.											.	.	.	0			c.G468T						.						145	127	133					7																	22533072		692	1591	2283	SO:0001583	missense	256227	exon3			CATCCACTTATCC		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.411G>T	7.37:g.22533072C>A	ENSP00000385239:p.Lys137Asn	117	0		97	4	NM_001164460	B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	t	0.826	-0.746879	0.03065	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	1.06	-1.24	0.09435	Flavoprotein transmembrane component (1);	0.608641	0.12947	U	0.426091	D	0.83285	0.5221	L	0.38838	1.175	0.23003	N	0.998446	P;B	0.35124	0.485;0.081	B;B	0.40038	0.317;0.084	T	0.72899	-0.4152	10	0.42905	T	0.14	-2.2763	2.0088	0.03483	0.2575:0.3526:0.0:0.3899	.	156;137	B5MCI2;Q6NZ63	.;STEAL_HUMAN	N	137;156;156;156	ENSP00000385239:K137N;ENSP00000384370:K156N;ENSP00000416608:K156N;ENSP00000408954:K156N	ENSP00000384370:K156N	K	-	3	2	STEAP1B	22499597	0.150000	0.22732	0.941000	0.38009	0.088000	0.18126	-0.081000	0.11321	-0.371000	0.08004	-1.709000	0.00716	AAG	.		0.403	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			A	22533072	C	A	22533072	3	1	16	1	0	0	0	0	1	0	0	0	9592	564	20	3	609	3	MGC87042	7	22533072	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		22533072	136605591	33	2183											
TNS3	64759	hgsc.bcm.edu	37	7	47384537	47384537	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr7:47384537G>T	ENST00000398879.1	-	19	2917	c.2551C>A	c.(2551-2553)Cca>Aca	p.P851T	TNS3_ENST00000355730.3_Missense_Mutation_p.P611T|TNS3_ENST00000311160.9_Missense_Mutation_p.P851T			Q68CZ2	TENS3_HUMAN	tensin 3	851					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						GGTGTCTCTGGAGACACAGGA	0.498																																					p.P851T		.											TNS3,NS,carcinoma,0,1	TNS3	0	0			c.C2551A						.						95	94	95					7																	47384537		2036	4208	6244	SO:0001583	missense	64759	exon19			TCTCTGGAGACAC	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.2551C>A	7.37:g.47384537G>T	ENSP00000381854:p.Pro851Thr	48	0		33	2	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664961	0.29604	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.95756	-3.2;-3.2;-3.8;-3.49	5.68	4.8	0.61643	.	1.688650	0.02869	N	0.131263	D	0.94991	0.8379	L	0.36672	1.1	0.80722	D	1	D	0.55605	0.972	P	0.48304	0.573	D	0.85316	0.1081	10	0.66056	D	0.02	-6.4828	12.752	0.57314	0.0:0.1648:0.8352:0.0	.	851	Q68CZ2	TENS3_HUMAN	T	851;961;851;611;307;954	ENSP00000312143:P851T;ENSP00000381854:P851T;ENSP00000347968:P611T;ENSP00000414358:P954T	ENSP00000312143:P851T	P	-	1	0	TNS3	47351062	1.000000	0.71417	0.999000	0.59377	0.343000	0.28985	2.068000	0.41471	1.373000	0.46208	0.563000	0.77884	CCA	.		0.498	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		T	47384537	G	T	47384537	3	4	16	1	0	0	0	0	1	0	0	0	16391	1174	41	3	1838	3	TNS3	7	47384537	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	24851465	47384537	111754126	34	2184											
ANKIB1	54467	hgsc.bcm.edu	37	7	92027127	92027127	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr7:92027127G>T	ENST00000265742.3	+	19	2862	c.2486G>T	c.(2485-2487)cGt>cTt	p.R829L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	829							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)			TCTTCCCTGCGTGACTACACC	0.527																																					p.R829L		.											ANKIB1,NS,carcinoma,0,1	ANKIB1	0	0			c.G2486T						.						164	174	171					7																	92027127		2000	4176	6176	SO:0001583	missense	54467	exon19			CCCTGCGTGACTA	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.2486G>T	7.37:g.92027127G>T	ENSP00000265742:p.Arg829Leu	37	0		27	2	NM_019004	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678448	0.47886	.	.	ENSG00000001629	ENST00000265742	T	0.09163	3.01	5.87	2.6	0.31112	.	0.530450	0.22326	N	0.061531	T	0.05227	0.0139	N	0.14661	0.345	0.32962	D	0.521113	P;B	0.35272	0.493;0.0	B;B	0.34536	0.185;0.0	T	0.21930	-1.0231	10	0.39692	T	0.17	.	3.5794	0.07946	0.3711:0.1886:0.4403:0.0	.	181;829	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	L	829	ENSP00000265742:R829L	ENSP00000265742:R829L	R	+	2	0	ANKIB1	91865063	0.997000	0.39634	0.858000	0.33744	0.994000	0.84299	2.458000	0.45014	0.926000	0.37118	0.655000	0.94253	CGT	.		0.527	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			T	92027127	G	T	92027127	3	4	16	1	0	0	0	0	1	0	0	0	630	1145	40	2	2556	2	ANKIB1	7	92027127	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	44642590	92027127	67111536	35	2185											
THAP5	168451	hgsc.bcm.edu	37	7	108210000	108210001	+	Frame_Shift_Ins	INS	-	-	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr7:108210000_108210001insA	ENST00000415914.3	-	1	166_167	c.13_14insT	c.(13-15)tgcfs	p.C5fs	THAP5_ENST00000438865.1_Frame_Shift_Ins_p.C5fs|THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_5'Flank|DNAJB9_ENST00000249356.3_5'Flank	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	5					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AATCGCTGCGCAATAGCGGGGC	0.604																																					p.C5fs		.											.	.	.	0			c.14_15insT						.																																			SO:0001589	frameshift_variant	168451	exon1			GCTGCGCAATAGC	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.14dupT	7.37:g.108210002_108210002dupA	ENSP00000400500:p.Cys5fs	70	0		52	18	NM_001130475		Frame_Shift_Ins	INS	ENST00000415914.3	37	CCDS47687.1																																																																																			.		0.604	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		A	108210001	-	A	108210000	7	5	16	1	0	1	1	0	0	0	0	0	15894	710	25	0	1185	0	THAP5	7	108210000	Frame_Shift_Ins	INS	-	TCGA-W5-AA2W-01A-11D-A417-09	16182873	108210000	50928663	36	2186											
PAXIP1	22976	hgsc.bcm.edu	37	7	154767932	154767932	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr7:154767932G>T	ENST00000404141.1	-	6	702	c.548C>A	c.(547-549)cCt>cAt	p.P183H	PAXIP1_ENST00000397192.1_Missense_Mutation_p.P183H|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	183	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				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)		p.P149H(1)|p.P183H(1)		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)		AATCAGACGAGGATGATAAAA	0.403																																					p.P183H		.											PAXIP1,NS,carcinoma,0,1	PAXIP1	0	2	Substitution - Missense(2)	endometrium(2)	c.C548A						.						87	78	81					7																	154767932		1918	4155	6073	SO:0001583	missense	22976	exon6			AGACGAGGATGAT	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.548C>A	7.37:g.154767932G>T	ENSP00000384048:p.Pro183His	67	0		36	2	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091239	0.76756	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	T;T;T	0.11604	2.76;2.76;2.76	4.98	4.98	0.66077	BRCT (2);	0.000000	0.56097	U	0.000035	T	0.41811	0.1175	M	0.89353	3.025	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.52631	-0.8550	10	0.87932	D	0	-19.4316	18.2489	0.89996	0.0:0.0:1.0:0.0	.	136;92;149;183	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	H	183;183;131;136;141	ENSP00000384048:P183H;ENSP00000380376:P183H;ENSP00000389849:P141H	ENSP00000319149:P136H	P	-	2	0	PAXIP1	154398865	1.000000	0.71417	0.710000	0.30468	0.643000	0.38383	9.028000	0.93712	2.301000	0.77427	0.305000	0.20034	CCT	.		0.403	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		T	154767932	G	T	154767932	3	4	16	1	0	0	0	0	1	0	0	0	11526	1000	35	3	2725	3	PAXIP1	7	154767932	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	46557932	154767932	4370731	37	2187											
CHD7	55636	hgsc.bcm.edu;bcgsc.ca	37	8	61728947	61728951	+	Splice_Site	DEL	TCTTA	TCTTA	-	rs121434344		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	TCTTA	TCTTA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr8:61728947_61728951delTCTTA	ENST00000423902.2	+	8	2979_2983	c.2500_2504delTCTTA	c.(2500-2505)tcttat>t	p.SY834fs	CHD7_ENST00000525508.1_Splice_Site_p.SY834fs|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	834	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.		S -> F (in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism). {ECO:0000269|PubMed:18834967}.		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)			TTCTTTCAGCTCTTATCTTCATTGT	0.298																																					p.833_835del		.											.	.	.	1	Insertion - In frame(1)	lung(1)	c.2499_2503del	GRCh37	CD061379|CM072950	CHD7	D|M	rs121434344	.																																			SO:0001630	splice_region_variant	55636	exon8			TTCAGCTCTTATC	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.2499-1TCTTA>-	8.37:g.61728947_61728951delTCTTA		132	0		90	34	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Del	DEL	ENST00000423902.2	37	CCDS47865.1																																																																																			.		0.298	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	Frame_Shift_Del	-	61728951	TCTTA	-	61728947	8	5	16	1	0	1	0	1	0	0	1	0	3337	1565	54	0	2526	0	CHD7	8	61728947	Splice_Site	DEL	TCTTA	TCGA-W5-AA2W-01A-11D-A417-09		61728947	84635075	38	2188											
OSGIN2	734	hgsc.bcm.edu	37	8	90937735	90937735	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr8:90937735G>T	ENST00000297438.2	+	6	1848	c.1493G>T	c.(1492-1494)aGa>aTa	p.R498I	OSGIN2_ENST00000451899.2_Missense_Mutation_p.R542I	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	498					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTGTTGAAAGAGGAGGAGGA	0.383																																					p.R542I		.											.,2	.	73	0			c.G1625T						.						52	50	50					8																	90937735		2203	4300	6503	SO:0001583	missense	734	exon6			TTGAAAGAGGAGG	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1493G>T	8.37:g.90937735G>T	ENSP00000297438:p.Arg498Ile	77	0		48	2	NM_001126111		Missense_Mutation	SNP	ENST00000297438.2	37	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099184	0.56183	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.23552	1.92;1.9	5.68	4.81	0.61882	.	0.374781	0.34628	N	0.003818	T	0.21674	0.0522	L	0.36672	1.1	0.80722	D	1	P;B	0.34977	0.478;0.171	B;B	0.31812	0.136;0.044	T	0.03728	-1.1009	10	0.72032	D	0.01	-14.0957	13.6584	0.62352	0.0744:0.0:0.9256:0.0	.	542;498	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	I	498;542	ENSP00000297438:R498I;ENSP00000396445:R542I	ENSP00000297438:R498I	R	+	2	0	OSGIN2	91006910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.381000	0.44336	1.396000	0.46663	0.563000	0.77884	AGA	.		0.383	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		T	90937735	G	T	90937735	3	4	16	1	0	0	0	0	1	0	0	0	11329	942	33	3	1647	3	OSGIN2	8	90937735	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	29208788	90937735	55426287	39	2189											
COL22A1	169044	hgsc.bcm.edu	37	8	139729078	139729078	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr8:139729078G>T	ENST00000303045.6	-	28	2836	c.2390C>A	c.(2389-2391)cCt>cAt	p.P797H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P797H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	797	Collagen-like 6.|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)		p.P797H(1)		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)			CTTCTCTCCAGGTCGGCCTGC	0.388										HNSCC(7;0.00092)																											p.P797H		.											COL22A1,NS,carcinoma,0,1	COL22A1	0	1	Substitution - Missense(1)	lung(1)	c.C2390A						.						69	68	68					8																	139729078		2203	4300	6503	SO:0001583	missense	169044	exon28			TCTCCAGGTCGGC	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.2390C>A	8.37:g.139729078G>T	ENSP00000303153:p.Pro797His	34	0		27	2	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504315	0.44558	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97114	-4.25;-4.25	4.74	4.74	0.60224	.	0.284831	0.24954	N	0.034279	D	0.98194	0.9403	M	0.80508	2.5	0.49687	D	0.999819	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98296	1.0516	10	0.62326	D	0.03	.	13.4436	0.61127	0.0:0.0:1.0:0.0	.	797;797	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	797;797;510	ENSP00000303153:P797H;ENSP00000387655:P797H	ENSP00000303153:P797H	P	-	2	0	COL22A1	139798260	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	2.677000	0.46892	2.615000	0.88500	0.655000	0.94253	CCT	.		0.388	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139729078	G	T	139729078	3	4	16	1	0	0	0	0	1	0	0	0	3688	1000	35	3	2642	3	COL22A1	8	139729078	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	48791343	139729078	6634944	40	2190											
ZNF16	7564	hgsc.bcm.edu	37	8	146156248	146156248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr8:146156248G>T	ENST00000276816.4	-	4	2111	c.1925C>A	c.(1924-1926)tCg>tAg	p.S642*	ZNF16_ENST00000394909.2_Nonsense_Mutation_p.S642*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	642					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)		GATGAGGACCGAACGCTGACT	0.542																																					p.S642X		.											ZNF16,colon,carcinoma,0,1	ZNF16	0	0			c.C1925A						.						131	126	127					8																	146156248		2203	4300	6503	SO:0001587	stop_gained	7564	exon3			AGGACCGAACGCT	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.1925C>A	8.37:g.146156248G>T	ENSP00000276816:p.Ser642*	57	0		41	3	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Nonsense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731939	0.89390	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0179	0.71600	0.0:0.0:1.0:0.0	.	.	.	.	X	642	.	ENSP00000276816:S642X	S	-	2	0	ZNF16	146127052	0.000000	0.05858	0.777000	0.31699	0.466000	0.32739	0.036000	0.13819	2.058000	0.61347	0.462000	0.41574	TCG	.		0.542	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		T	146156248	G	T	146156248	4	4	16	1	0	0	0	0	0	1	0	0	17786	1059	37	2	127	2	ZNF16	8	146156248	Nonsense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	6427170	146156248	207774	41	2191											
KIF24	347240	hgsc.bcm.edu;bcgsc.ca	37	9	34259675	34259675	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr9:34259675G>A	ENST00000402558.2	-	9	1568	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	KIF24_ENST00000379174.3_Missense_Mutation_p.A381V|KIF24_ENST00000345050.2_Missense_Mutation_p.A381V|KIF24_ENST00000379166.2_Missense_Mutation_p.A515V			Q5T7B8	KIF24_HUMAN	kinesin family member 24	515	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			GCAGGTTTTGGCATTGCCGAT	0.493																																					p.A515V		.											.	.	.	0			c.C1544T						.						356	270	299					9																	34259675		2203	4300	6503	SO:0001583	missense	347240	exon10			GTTTTGGCATTGC	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.1544C>T	9.37:g.34259675G>A	ENSP00000384433:p.Ala515Val	41	0		46	4	NM_194313	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	36	5.902324	0.97087	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.71	5.71	0.89125	Kinesin, motor domain (4);	0.000000	0.46758	D	0.000280	T	0.46073	0.1374	M	0.85099	2.735	0.49915	D	0.999837	D;D	0.55800	0.967;0.973	P;P	0.53401	0.604;0.725	T	0.49011	-0.8983	10	0.52906	T	0.07	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	515;515	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	V	515;381;515;381;515	ENSP00000384433:A515V;ENSP00000368472:A381V;ENSP00000368464:A515V;ENSP00000340179:A381V	ENSP00000340179:A381V	A	-	2	0	KIF24	34249675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.640000	0.91028	2.687000	0.91594	0.655000	0.94253	GCC	.		0.493	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			A	34259675	G	A	34259675	3	1	16	1	0	0	0	0	1	0	0	0	8319	1203	42	3	2578	3	KIF24	9	34259675	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09		34259675	106953756	42	2192											
FBXO10	26267	hgsc.bcm.edu;bcgsc.ca	37	9	37537628	37537628	+	Silent	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr9:37537628G>T	ENST00000432825.2	-	3	946	c.898C>A	c.(898-900)Cgg>Agg	p.R300R	FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	300					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)		GCCTGGTCCCGGCTCTCTAGG	0.562																																					p.R300R		.											.	.	.	0			c.C898A						.						39	41	40					9																	37537628		1885	4110	5995	SO:0001819	synonymous_variant	26267	exon3			GGTCCCGGCTCTC	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.898C>A	9.37:g.37537628G>T		55	0		65	4	NM_012166	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	CCDS47966.1																																																																																			.		0.562	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			T	37537628	G	T	37537628	2	4	16	1	0	0	0	0	0	0	0	1	5748	1115	39	2		2	FBXO10	9	37537628	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	3277953	37537628	103675803	43	2193											
PIP5KL1	138429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	130688240	130688240	+	Silent	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr9:130688240G>A	ENST00000388747.4	-	8	713	c.669C>T	c.(667-669)tgC>tgT	p.C223C	PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.C20C	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	223	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GGCTCACCTCGCAGCCTTTGA	0.542																																					p.C223C		.											.	.	.	0			c.C669T						.						36	38	37					9																	130688240		2203	4300	6503	SO:0001819	synonymous_variant	138429	exon8			CACCTCGCAGCCT	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.669C>T	9.37:g.130688240G>A		105	0		55	20	NM_001135219	Q8IVS3	Silent	SNP	ENST00000388747.4	37	CCDS48030.1																																																																																			.		0.542	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		A	130688240	G	A	130688240	2	1	16	1	0	0	0	0	0	0	0	1	11981	1079	38	1		1	PIP5KL1	9	130688240	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	93150612	130688240	10525191	44	2194											
ADAMTSL2	9719	bcgsc.ca	37	9	136405777	136405777	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr9:136405777G>A	ENST00000354484.4	+	6	1027	c.470G>A	c.(469-471)gGc>gAc	p.G157D	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G157D|ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.G266D	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	157					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)		ACCGTGGACGGCCAGCGGCAG	0.582																																					p.G157D													.	ADAMTSL2	40	0			c.G470A						.						55	44	48					9																	136405777		2203	4300	6503	SO:0001583	missense	9719	exon6			TGGACGGCCAGCG	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.470G>A	9.37:g.136405777G>A	ENSP00000346478:p.Gly157Asp	51	0		48	4	NM_014694	B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681495	0.88542	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	D;D;D	0.85955	-2.05;-2.05;-2.05	4.58	4.58	0.56647	.	0.000000	0.64402	U	0.000004	D	0.89904	0.6850	L	0.53671	1.685	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87649	0.2527	10	0.22706	T	0.39	.	17.3768	0.87394	0.0:0.0:1.0:0.0	.	157	Q86TH1	ATL2_HUMAN	D	157;266;157	ENSP00000346478:G157D;ENSP00000376781:G266D;ENSP00000376780:G157D	ENSP00000346478:G157D	G	+	2	0	ADAMTSL2	135395598	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.401000	0.97294	2.093000	0.63338	0.462000	0.41574	GGC	.		0.582	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		A	136405777	G	A	136405777	3	1	16	1	0	0	0	0	1	0	0	0	275	1203	42	3	488	3	ADAMTSL2	9	136405777	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	5717537	136405777	4807654	45	2195											
MYO3A	53904	hgsc.bcm.edu	37	10	26310439	26310439	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr10:26310439C>T	ENST00000265944.5	+	8	759	c.593C>T	c.(592-594)gCa>gTa	p.A198V	MYO3A_ENST00000543632.1_Missense_Mutation_p.A198V|MYO3A_ENST00000376302.1_Missense_Mutation_p.A198V	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.A198V(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						TAGGTGATTGCATGTGAACAG	0.408																																					p.A198V		.											MYO3A,NS,carcinoma,0,1	MYO3A	0	1	Substitution - Missense(1)	lung(1)	c.C593T						.						173	150	158					10																	26310439		2203	4300	6503	SO:0001583	missense	53904	exon8			TGATTGCATGTGA	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.593C>T	10.37:g.26310439C>T	ENSP00000265944:p.Ala198Val	48	0		37	3	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490870	0.96339	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632	T;T;T	0.65732	-0.17;-0.17;-0.17	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094242	0.64402	D	0.000001	T	0.73289	0.3568	L	0.33137	0.985	0.80722	D	1	P;P;D;P	0.89917	0.794;0.829;1.0;0.9	B;B;D;B	0.80764	0.164;0.236;0.994;0.409	T	0.74241	-0.3729	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	198;198;198;198	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	V	198	ENSP00000265944:A198V;ENSP00000365479:A198V;ENSP00000445909:A198V	ENSP00000265944:A198V	A	+	2	0	MYO3A	26350445	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GCA	.		0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26310439	C	T	26310439	3	4	16	1	0	0	0	0	1	0	0	0	10114	710	25	3	615	3	MYO3A	10	26310439	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		26310439	109224308	46	2196											
PSTK	118672	hgsc.bcm.edu	37	10	124742803	124742803	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr10:124742803G>A	ENST00000368887.3	+	3	964	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	PSTK_ENST00000405485.1_Missense_Mutation_p.C175Y|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	175					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)	p.C175Y(1)		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)		TTGGGCTTTTGCCAGCTCTTT	0.388																																					p.C175Y		.											PSTK,rectum,carcinoma,0,1	PSTK	0	1	Substitution - Missense(1)	large_intestine(1)	c.G524A						.						55	54	54					10																	124742803		2203	4300	6503	SO:0001583	missense	118672	exon3			GCTTTTGCCAGCT	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.524G>A	10.37:g.124742803G>A	ENSP00000357882:p.Cys175Tyr	52	0		39	2	NM_153336	Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635700|3.635700	0.67130|0.67130	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000406217|ENST00000368887;ENST00000405485	.|T;T	.|0.37058	.|1.22;1.22	5.86|5.86	4.96|4.96	0.65561|0.65561	.|.	.|0.094648	.|0.85682	.|D	.|0.000000	T|T	0.63248|0.63248	0.2495|0.2495	M|M	0.85859|0.85859	2.78|2.78	0.46874|0.46874	D|D	0.999238|0.999238	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.69057|0.69057	-0.5246|-0.5246	5|10	.|0.59425	.|D	.|0.04	-16.7884|-16.7884	13.6725|13.6725	0.62434|0.62434	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	.|175	.|Q8IV42	.|PSTK_HUMAN	T|Y	176|175	.|ENSP00000357882:C175Y;ENSP00000384764:C175Y	.|ENSP00000357882:C175Y	A|C	+|+	1|2	0|0	PSTK|PSTK	124732793|124732793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.838000|7.838000	0.86804|0.86804	1.485000|1.485000	0.48380|0.48380	0.563000|0.563000	0.77884|0.77884	GCC|TGC	.		0.388	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		A	124742803	G	A	124742803	3	1	16	1	0	0	0	0	1	0	0	0	12762	1319	46	3	534	3	PSTK	10	124742803	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	98432364	124742803	10791944	47	2197											
OR4B1	119765	hgsc.bcm.edu	37	11	48238420	48238420	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr11:48238420C>T	ENST00000309562.2	+	1	77	c.59C>T	c.(58-60)gCt>gTt	p.A20V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, 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)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CAGGATCCAGCTGTGCAGAGT	0.507																																					p.A20V		.											OR4B1,right_upper_lobe,carcinoma,0,1	OR4B1	0	0			c.C59T						.						241	196	211					11																	48238420		2201	4298	6499	SO:0001583	missense	119765	exon1			ATCCAGCTGTGCA	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.59C>T	11.37:g.48238420C>T	ENSP00000311605:p.Ala20Val	52	0		28	2	NM_001005470	Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	C	5.296	0.240067	0.10023	.	.	ENSG00000175619	ENST00000309562	T	0.03094	4.05	5.4	1.6	0.23607	.	0.691121	0.12907	N	0.429284	T	0.01627	0.0052	N	0.04090	-0.28	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.46484	-0.9188	10	0.46703	T	0.11	.	0.7877	0.01051	0.4878:0.1733:0.1787:0.1602	.	20	Q8NGF8	OR4B1_HUMAN	V	20	ENSP00000311605:A20V	ENSP00000311605:A20V	A	+	2	0	OR4B1	48194996	0.000000	0.05858	0.399000	0.26333	0.011000	0.07611	-0.271000	0.08572	0.359000	0.24239	-0.750000	0.03501	GCT	.		0.507	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		T	48238420	C	T	48238420	3	4	16	1	0	0	0	0	1	0	0	0	11083	797	28	3	61	3	OR4B1	11	48238420	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		48238420	86768096	48	2198											
FTH1	2495	hgsc.bcm.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr11:61734852C>A	ENST00000273550.7	-	1	280	c.46G>T	c.(46-48)Gac>Tac	p.D16Y	FTH1_ENST00000526640.1_Intron|FTH1_ENST00000529631.1_Missense_Mutation_p.D16Y|AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000532601.1_5'Flank|FTH1_ENST00000529191.1_Missense_Mutation_p.D16Y	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697																																					p.D16Y		.											FTH1,NS,malignant_melanoma,0,1	FTH1	0	1	Substitution - Missense(1)	NS(1)	c.G46T						.						10	11	11					11																	61734852		1923	4038	5961	SO:0001583	missense	2495	exon1			CTGAGTCCTGGTG		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.46G>T	11.37:g.61734852C>A	ENSP00000273550:p.Asp16Tyr	49	0		26	3	NM_002032	B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	36	5.640479	0.96693	.	.	ENSG00000167996	ENST00000529191;ENST00000529631;ENST00000530019;ENST00000273550;ENST00000406545	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.76	4.76	0.60689	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.141911	0.64402	D	0.000007	D	0.84097	0.5397	H	0.96142	3.775	0.80722	D	1	P	0.49447	0.924	P	0.52309	0.695	D	0.89969	0.4092	10	0.87932	D	0	.	17.7341	0.88387	0.0:1.0:0.0:0.0	.	16	P02794	FRIH_HUMAN	Y	16;16;16;16;65	ENSP00000431659:D16Y;ENSP00000431575:D16Y;ENSP00000433470:D16Y;ENSP00000273550:D16Y	ENSP00000273550:D16Y	D	-	1	0	FTH1	61491428	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.164000	0.77533	2.319000	0.78375	0.484000	0.47621	GAC	.		0.697	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		A	61734852	C	A	61734852	3	1	16	1	0	0	0	0	1	0	0	0	6106	855	30	3	521	3	FTH1	11	61734852	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	13496432	61734852	73271664	49	2199											
BAD	572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64051695	64051695	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr11:64051695C>T	ENST00000394532.3	-	1	416	c.146G>A	c.(145-147)aGt>aAt	p.S49N	GPR137_ENST00000539851.1_5'Flank|GPR137_ENST00000313074.3_5'Flank|BAD_ENST00000544785.1_Missense_Mutation_p.S49N|BAD_ENST00000309032.3_Missense_Mutation_p.S49N|BAD_ENST00000394531.3_Missense_Mutation_p.S49N|GPR137_ENST00000411458.1_5'Flank|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	49					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						CTGCTGGTGACTGGCGTCCCA	0.697																																					p.S49N		.											.	.	.	0			c.G146A						.						62	52	55					11																	64051695		2201	4294	6495	SO:0001583	missense	572	exon2			TGGTGACTGGCGT	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.146G>A	11.37:g.64051695C>T	ENSP00000378040:p.Ser49Asn	27	0		23	6	NM_032989	O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	37	CCDS8065.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872336	0.72180	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.39	3.45	0.39498	.	0.701705	0.13768	N	0.364081	T	0.42944	0.1225	L	0.29908	0.895	0.27367	N	0.955805	P;B	0.47191	0.891;0.273	P;B	0.48677	0.586;0.122	T	0.22347	-1.0219	10	0.51188	T	0.08	0.0035	9.3699	0.38248	0.2231:0.7769:0.0:0.0	.	49;49	A8MXU7;Q92934	.;BAD_HUMAN	N	49	ENSP00000378040:S49N;ENSP00000309103:S49N;ENSP00000440575:S49N;ENSP00000378039:S49N	ENSP00000309103:S49N	S	-	2	0	BAD	63808271	0.068000	0.21057	0.722000	0.30670	0.842000	0.47809	0.258000	0.18387	1.124000	0.41980	0.561000	0.74099	AGT	.		0.697	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		T	64051695	C	T	64051695	3	4	16	1	0	0	0	0	1	0	0	0	1286	565	20	3	372	3	BAD	11	64051695	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	2316843	64051695	70954821	50	2200											
ODZ4	26011	bcgsc.ca	37	11	78449511	78449511	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr11:78449511C>T	ENST00000278550.7	-	20	3323	c.2861G>A	c.(2860-2862)aGc>aAc	p.S954N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	954					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)										ATCTTGCCTGCTGATTGTATA	0.483																																					p.S954N													.	.	.	0			c.G2861A						.						80	75	77					11																	78449511		1922	4130	6052	SO:0001583	missense	26011	exon20			TGCCTGCTGATTG	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.2861G>A	11.37:g.78449511C>T	ENSP00000278550:p.Ser954Asn	85	0		57	4	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467203	0.63625	.	.	ENSG00000149256	ENST00000278550	T	0.17213	2.29	5.08	5.08	0.68730	Carboxypeptidase-like, regulatory domain (1);	0.047879	0.85682	D	0.000000	T	0.22205	0.0535	M	0.66939	2.045	0.45261	D	0.998265	B	0.31125	0.309	B	0.27608	0.081	T	0.02728	-1.1118	9	.	.	.	.	19.0333	0.92967	0.0:1.0:0.0:0.0	.	954	Q6N022	TEN4_HUMAN	N	954	ENSP00000278550:S954N	.	S	-	2	0	ODZ4	78127159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.399000	0.52586	2.793000	0.96121	0.655000	0.94253	AGC	.		0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			T	78449511	C	T	78449511	3	4	16	1	0	0	0	0	1	0	0	0	10876	797	28	3	5508	3	ODZ4	11	78449511	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	14397816	78449511	56557005	51	2201											
NOX4	50507	hgsc.bcm.edu;broad.mit.edu	37	11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr11:89106611C>T	ENST00000263317.4	-	12	1362	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000535633.1_Missense_Mutation_p.G351E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	375	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)	p.G375E(1)		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)				TGTCCAGTCTCCTACTATTTT	0.279																																					p.G375E		.											NOX4,colon,carcinoma,0,2	NOX4	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1124A						.						100	110	107					11																	89106611		2201	4283	6484	SO:0001583	missense	50507	exon12			CAGTCTCCTACTA	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.1124G>A	11.37:g.89106611C>T	ENSP00000263317:p.Gly375Glu	90	0		53	4	NM_001143836	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057366	0.55325	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	T;T;T;T;T;T;T;T;T;T;T;D;D	0.98012	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;-4.05;-4.66	5.12	5.12	0.69794	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.87971	2.92	0.52501	D	0.999951	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	0.97110	1.0;0.998;0.992;0.998;1.0;0.999;1.0	D	0.99505	1.0954	9	.	.	.	-12.7557	15.4797	0.75514	0.0:1.0:0.0:0.0	.	351;209;350;68;68;375;375	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	E	351;351;351;375;375;351;351;351;209;350;396;68;68	ENSP00000412446:G351E;ENSP00000440172:G351E;ENSP00000344747:G351E;ENSP00000436892:G375E;ENSP00000263317:G375E;ENSP00000434924:G351E;ENSP00000433797:G351E;ENSP00000439373:G351E;ENSP00000436093:G209E;ENSP00000436970:G350E;ENSP00000405705:G396E;ENSP00000435039:G68E;ENSP00000365146:G68E	.	G	-	2	0	NOX4	88746259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.868000	0.63021	2.382000	0.81193	0.563000	0.77884	GGA	.		0.279	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		T	89106611	C	T	89106611	3	4	16	1	0	0	0	0	1	0	0	0	10597	855	30	3	640	3	NOX4	11	89106611	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	10657100	89106611	45899905	52	2202											
MAML2	84441	hgsc.bcm.edu	37	11	95825221	95825221	+	Silent	SNP	C	C	T	rs571656416	byFrequency	TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr11:95825221C>T	ENST00000524717.1	-	2	3258	c.1974G>A	c.(1972-1974)caG>caA	p.Q658Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	658					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)				gctgctgctgctgttgttgct	0.527			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								C|||	4	0.000798722	0.0015	0	5008	,	,		17889	0.002		0	False		,,,				2504	0				p.Q658Q		.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,NS,carcinoma,0,1	MAML2	0	0			c.G1974A						.																																			SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGTTGT	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.1974G>A	11.37:g.95825221C>T		48	2		27	2	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.		0.527	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825221	C	T	95825221	2	4	16	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825221	Silent	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	6718610	95825221	39181295	53	2203											
MPZL3	196264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118106178	118106178	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr11:118106178C>T	ENST00000278949.4	-	4	633	c.578G>A	c.(577-579)aGg>aAg	p.R193K	MPZL3_ENST00000527472.1_Missense_Mutation_p.R181K|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	193					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)		ATAGCCAGACCTGCTCCTCTT	0.557																																					p.R193K		.											.	.	.	0			c.G578A						.						213	209	210					11																	118106178		2200	4296	6496	SO:0001583	missense	196264	exon4			CCAGACCTGCTCC	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.578G>A	11.37:g.118106178C>T	ENSP00000278949:p.Arg193Lys	50	0		28	10	NM_198275	A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	C	5.590	0.293593	0.10567	.	.	ENSG00000160588	ENST00000278949;ENST00000527472	D;D	0.95272	-3.49;-3.66	5.87	2.36	0.29203	.	0.345181	0.31612	N	0.007351	D	0.82651	0.5083	N	0.04880	-0.145	0.30845	N	0.735254	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.70583	-0.4832	10	0.02654	T	1	.	9.5304	0.39191	0.0:0.3626:0.0:0.6374	.	181;193	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	K	193;181	ENSP00000278949:R193K;ENSP00000432106:R181K	ENSP00000278949:R193K	R	-	2	0	MPZL3	117611388	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	1.042000	0.30303	0.223000	0.20920	-0.302000	0.09304	AGG	.		0.557	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		T	118106178	C	T	118106178	3	4	16	1	0	0	0	0	1	0	0	0	9789	681	24	3	141	3	MPZL3	11	118106178	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	22280957	118106178	16900338	54	2204											
RAB3IP	117177	hgsc.bcm.edu	37	12	70178544	70178544	+	Silent	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr12:70178544G>T	ENST00000247833.7	+	4	931	c.555G>T	c.(553-555)gtG>gtT	p.V185V	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.V185V|RAB3IP_ENST00000483530.2_Silent_p.V185V|RAB3IP_ENST00000362025.5_Silent_p.V201V|RAB3IP_ENST00000551641.1_5'UTR|RAB3IP_ENST00000550536.1_Silent_p.V201V					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCAAAAGTGCGAGATCAAC	0.353																																					p.V201V		.											.	.	.	0			c.G603T						.						127	120	122					12																	70178544		2203	4300	6503	SO:0001819	synonymous_variant	117177	exon4			AAAAGTGCGAGAT		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.555G>T	12.37:g.70178544G>T		120	0		78	3	NM_175623		Silent	SNP	ENST00000247833.7	37	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167298	0.21621	.	.	ENSG00000127328	ENST00000550647	.	.	.	5.87	-9.98	0.00438	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	.	9.0892	0.36601	0.0961:0.0814:0.66:0.1624	.	.	.	.	S	75	.	.	A	+	1	0	RAB3IP	68464811	0.306000	0.24490	0.808000	0.32385	0.997000	0.91878	-0.627000	0.05521	-1.294000	0.02360	0.591000	0.81541	GCG	.		0.353	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		T	70178544	G	T	70178544	2	4	16	1	0	0	0	0	0	0	0	1	12983	1306	46	3		3	RAB3IP	12	70178544	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09		70178544	63673351	55	2205											
NAV3	89795	broad.mit.edu;bcgsc.ca	37	12	78362376	78362378	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr12:78362376_78362378delCAA	ENST00000397909.2	+	5	738_740	c.565_567delCAA	c.(565-567)caadel	p.Q191del	NAV3_ENST00000536525.2_In_Frame_Del_p.Q191del|NAV3_ENST00000228327.6_In_Frame_Del_p.Q191del|NAV3_ENST00000266692.7_In_Frame_Del_p.Q191del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	191						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						ACAACACCATCAACAACAGTACT	0.429										HNSCC(70;0.22)																											p.189_189del													NAV3,NS,carcinoma,-2,1	NAV3	506	0			c.565_567del						.																																			SO:0001651	inframe_deletion	89795	exon5			CACCATCAACAAC	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.565_567delCAA	12.37:g.78362379_78362381delCAA	ENSP00000381007:p.Gln191del	41	0		37	8	NM_014903	Q8NFW7|Q9Y2E7	In_Frame_Del	DEL	ENST00000397909.2	37																																																																																				.		0.429	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		-	78362378	CAA	-	78362376	7	5	16	1	0	1	0	1	0	0	0	0	10223	827	29	0	583	0	NAV3	12	78362376	In_Frame_Del	DEL	CAA	TCGA-W5-AA2W-01A-11D-A417-09	8183832	78362376	55489519	56	2206											
TMPO	7112	hgsc.bcm.edu	37	12	98927571	98927571	+	Intron	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr12:98927571G>A	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Silent_p.Q512Q|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000393053.2_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						TTGACAGGCAGCTGCCTTCAC	0.383																																					p.Q512Q		.											TMPO_ENST00000266732,NS,carcinoma,0,1	TMPO_ENST00000266732	0	0			c.G1536A						.						51	54	53					12																	98927571		2203	4300	6503	SO:0001627	intron_variant	7112	exon4			CAGGCAGCTGCCT		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+1955G>A	12.37:g.98927571G>A		38	0		45	3	NM_003276	A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	CCDS31879.1																																																																																			.		0.383	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		A	98927571	G	A	98927571	1	1	16	0	1	0	0	0	0	0	0	0	16284	962	34	3		3	TMPO	12	98927571	Intron	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	20565195	98927571	34924324	57	2207											
GCN1L1	10985	hgsc.bcm.edu	37	12	120622662	120622662	+	Silent	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr12:120622662G>T	ENST00000300648.6	-	3	162	c.150C>A	c.(148-150)ctC>ctA	p.L50L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	50					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)	p.L50L(1)		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)					ACAATTTGCAGAGCCCCTTCA	0.488																																					p.L50L		.											GCN1L1,NS,carcinoma,0,1	GCN1L1	0	1	Substitution - coding silent(1)	kidney(1)	c.C150A						.						84	83	83					12																	120622662		1958	4151	6109	SO:0001819	synonymous_variant	10985	exon3			TTTGCAGAGCCCC	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.150C>A	12.37:g.120622662G>T		33	0		17	2	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																			.		0.488	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120622662	G	T	120622662	2	4	16	1	0	0	0	0	0	0	0	1	6324	929	33	3		3	GCN1L1	12	120622662	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	21695091	120622662	13229233	58	2208											
ZNF268	10795	hgsc.bcm.edu	37	12	133764550	133764550	+	Silent	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr12:133764550G>T	ENST00000536435.2	+	3	456	c.126G>T	c.(124-126)ctG>ctT	p.L42L	ZNF268_ENST00000541009.2_Silent_p.L42L|ZNF268_ENST00000542711.2_Intron|ZNF268_ENST00000541211.2_Silent_p.L42L|ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000416488.1_Silent_p.L207L|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000542986.2_Silent_p.L42L|CTD-2140B24.4_ENST00000540096.2_Silent_p.L207L|ZNF268_ENST00000539248.2_Silent_p.L42L|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000228289.5_Silent_p.L42L	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	42					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|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 during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|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(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTCCTGGTCTGCAACCTCTCC	0.512																																					p.L42L		.											ZNF268,rectum,carcinoma,0,1	ZNF268	0	0			c.G126T						.						42	43	43					12																	133764550		1864	4117	5981	SO:0001819	synonymous_variant	10795	exon3			TGGTCTGCAACCT	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"Zinc fingers, C2H2-type", "-"	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.126G>T	12.37:g.133764550G>T		72	0		45	2	NM_152943	Q8TDG8|Q96RH4|Q9BZJ9	Silent	SNP	ENST00000536435.2	37	CCDS45012.1																																																																																			.		0.512	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		T	133764550	G	T	133764550	2	4	16	1	0	0	0	0	0	0	0	1	17855	1306	46	3		3	ZNF268	12	133764550	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	13141888	133764550	87345	59	2209											
ARHGAP5	394	bcgsc.ca	37	14	32563150	32563150	+	Missense_Mutation	SNP	C	C	T	rs373639217		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr14:32563150C>T	ENST00000345122.3	+	2	3590	c.3275C>T	c.(3274-3276)gCg>gTg	p.A1092V	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A1092V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A1092V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A1092V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1092					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GATAACTATGCGGAACCCATT	0.368																																					p.A1092V	NSCLC(9;77 350 3443 29227 41353)												.	ARHGAP5	166	0			c.C3275T						.	C	VAL/ALA,VAL/ALA	1,4405		0,1,2202	49	53	51		3275,3275	4.4	1	14		51	0,8584		0,0,4292	no	missense,missense	ARHGAP5	NM_001030055.1,NM_001173.2	64,64	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1092/1503,1092/1502	32563150	1,12989	2203	4292	6495	SO:0001583	missense	394	exon2			ACTATGCGGAACC	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.3275C>T	14.37:g.32563150C>T	ENSP00000371897:p.Ala1092Val	92	0		66	4	NM_001173	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304284	0.60305	2.27E-4	0.0	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.33	4.43	0.53597	.	0.141713	0.64402	N	0.000005	T	0.31167	0.0788	M	0.66939	2.045	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03863	-1.0997	10	0.59425	D	0.04	.	14.7342	0.69404	0.0:0.9287:0.0:0.0713	.	1092;1092	Q13017-2;Q13017	.;RHG05_HUMAN	V	1092	ENSP00000452222:A1092V;ENSP00000441692:A1092V;ENSP00000371897:A1092V;ENSP00000393307:A1092V	ENSP00000371897:A1092V	A	+	2	0	ARHGAP5	31632901	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.806000	0.62569	1.359000	0.45940	0.591000	0.81541	GCG	.		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		T	32563150	C	T	32563150	3	4	16	1	0	0	0	0	1	0	0	0	886	768	27	1	3277	1	ARHGAP5	14	32563150	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		32563150	74786390	60	2210											
SIX1	6495	hgsc.bcm.edu	37	14	61115903	61115903	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr14:61115903G>A	ENST00000247182.6	-	1	277	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	2					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|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)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)	p.S2*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGGCAGCATCGACATGGCTGG	0.726																																					p.S2L		.											SIX1,NS,carcinoma,0,1	SIX1	0	1	Substitution - Nonsense(1)	lung(1)	c.C5T						.						15	15	15					14																	61115903		2164	4227	6391	SO:0001583	missense	6495	exon1			AGCATCGACATGG	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.5C>T	14.37:g.61115903G>A	ENSP00000247182:p.Ser2Leu	17	0		16	2	NM_005982	Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748027	0.69533	.	.	ENSG00000126778	ENST00000247182	D	0.88046	-2.33	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	N	0.04508	-0.205	0.80722	D	1	B	0.24618	0.107	B	0.14023	0.01	T	0.69781	-0.5052	10	0.44086	T	0.13	-8.6498	14.4259	0.67215	0.0:0.0:0.8511:0.1489	.	2	Q15475	SIX1_HUMAN	L	2	ENSP00000247182:S2L	ENSP00000247182:S2L	S	-	2	0	SIX1	60185656	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.862000	0.62976	1.273000	0.44346	0.561000	0.74099	TCG	.		0.726	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			A	61115903	G	A	61115903	3	1	16	1	0	0	0	0	1	0	0	0	14391	1059	37	1	857	1	SIX1	14	61115903	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	28552753	61115903	46233637	61	2211											
C14orf43	91748	hgsc.bcm.edu;bcgsc.ca	37	14	74205859	74205859	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr14:74205859G>T	ENST00000286523.5	-	2	1635	c.853C>A	c.(853-855)Ccc>Acc	p.P285T	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P285T|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	285	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)										AAGTCCTGGGGTTGCTGCGAG	0.622																																					p.P285T		.											.	.	.	0			c.C853A						.						29	30	30					14																	74205859		2203	4300	6503	SO:0001583	missense	91748	exon2			CCTGGGGTTGCTG	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.853C>A	14.37:g.74205859G>T	ENSP00000286523:p.Pro285Thr	67	0		46	4	NM_194278	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742308	0.15642	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.02	5.02	0.67125	.	0.283609	0.30492	N	0.009506	T	0.09862	0.0242	N	0.19112	0.55	0.25084	N	0.990901	B;B	0.32245	0.361;0.361	B;B	0.29785	0.107;0.107	T	0.23868	-1.0176	10	0.12766	T	0.61	-7.6198	18.3491	0.90331	0.0:0.0:1.0:0.0	.	285;285	A0PJD3;Q6PJG2	.;CN043_HUMAN	T	285	ENSP00000377634:P285T;ENSP00000286523:P285T;ENSP00000407767:P285T;ENSP00000402380:P285T	ENSP00000286523:P285T	P	-	1	0	C14orf43	73275612	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	5.597000	0.67577	2.329000	0.79093	0.561000	0.74099	CCC	.		0.622	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		T	74205859	G	T	74205859	3	4	16	1	0	0	0	0	1	0	0	0	1779	1261	44	3	2328	3	C14orf43	14	74205859	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	13089956	74205859	33143681	62	2212											
KCNK10	54207	hgsc.bcm.edu	37	14	88693857	88693857	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr14:88693857G>T	ENST00000340700.5	-	4	979	c.528C>A	c.(526-528)agC>agA	p.S176R	KCNK10_ENST00000319231.5_Missense_Mutation_p.S181R|KCNK10_ENST00000312350.5_Missense_Mutation_p.S181R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	176					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)	p.S176R(1)|p.S181R(1)		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						CTCCTTCAGTGCTCGGAGCAA	0.393																																					p.S181R		.											KCNK10_ENST00000312350,brain,glioma,0,2	KCNK10_ENST00000312350	0	2	Substitution - Missense(2)	central_nervous_system(2)	c.C543A						.						96	102	100					14																	88693857		2203	4300	6503	SO:0001583	missense	54207	exon4			TTCAGTGCTCGGA	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.528C>A	14.37:g.88693857G>T	ENSP00000343104:p.Ser176Arg	70	1		46	2	NM_138318	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769825	0.31320	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.22945	1.93;1.93;1.93	6.17	5.28	0.74379	Ion transport 2 (1);	0.035132	0.85682	D	0.000000	T	0.11922	0.0290	N	0.01824	-0.7	0.80722	D	1	B;B;B	0.17852	0.024;0.011;0.006	B;B;B	0.24006	0.05;0.05;0.017	T	0.15263	-1.0443	10	0.18276	T	0.48	.	15.9715	0.80025	0.0648:0.0:0.9352:0.0	.	176;181;181	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	176;181;181	ENSP00000343104:S176R;ENSP00000310568:S181R;ENSP00000312811:S181R	ENSP00000310568:S181R	S	-	3	2	KCNK10	87763610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.426000	0.52778	1.599000	0.50093	0.655000	0.94253	AGC	.		0.393	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88693857	G	T	88693857	3	4	16	1	0	0	0	0	1	0	0	0	8086	1310	46	3	1104	3	KCNK10	14	88693857	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	14487998	88693857	18655683	63	2213											
CATSPERB	79820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	92105595	92105595	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr14:92105595C>T	ENST00000256343.3	-	16	1589		c.e16-1			NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta						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)				CTTCCCATTCCTATTAGGAAA	0.368																																					.		.											.	.	.	0			c.1433-1G>A						.						75	71	72					14																	92105595		2203	4300	6503	SO:0001630	splice_region_variant	79820	exon17			CCATTCCTATTAG	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.1433-1G>A	14.37:g.92105595C>T		70	0		46	19	NM_024764	A0AV51	Splice_Site	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314038	0.23908	.	.	ENSG00000133962	ENST00000256343	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4642	0.50227	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CATSPERB	91175348	0.959000	0.32827	0.912000	0.35992	0.335000	0.28730	2.922000	0.48860	2.409000	0.81822	0.561000	0.74099	.	.		0.368	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	Intron	T	92105595	C	T	92105595	5	4	16	1	0	0	0	0	0	0	1	0	2698	695	24	3	1966	3	CATSPERB	14	92105595	Splice_Site	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	3411738	92105595	15243945	64	2214											
HSP90AA1	3320	bcgsc.ca	37	14	102548746	102548746	+	Silent	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr14:102548746G>A	ENST00000216281.8	-	10	1996	c.1791C>T	c.(1789-1791)tgC>tgT	p.C597C	HSP90AA1_ENST00000334701.7_Silent_p.C719C	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	597					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)	TGACAATACAGCATGGAGATG	0.408																																					p.C719C													.	HSP90AA1	65	0			c.C2157T						.						64	60	62					14																	102548746		2203	4300	6503	SO:0001819	synonymous_variant	3320	exon11			AATACAGCATGGA	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.1791C>T	14.37:g.102548746G>A		73	0		44	4	NM_001017963	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	ENST00000216281.8	37	CCDS9967.1																																																																																			.		0.408	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		A	102548746	G	A	102548746	2	1	16	1	0	0	0	0	0	0	0	1	7428	963	34	3		3	HSP90AA1	14	102548746	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	10443151	102548746	4800794	65	2215											
ZNF839	55778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	102800960	102800960	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr14:102800960G>A	ENST00000558850.1	+	4	1488	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	ZNF839_ENST00000262236.5_Missense_Mutation_p.V380M|ZNF839_ENST00000559185.1_Missense_Mutation_p.V380M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V496M	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	380							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						GGTTGTGACCGTGTATGAGTT	0.403																																					p.V496M		.											.	.	.	0			c.G1486A						.						111	109	110					14																	102800960		1945	4145	6090	SO:0001583	missense	55778	exon4			GTGACCGTGTATG	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.1138G>A	14.37:g.102800960G>A	ENSP00000453363:p.Val380Met	100	0		44	24	NM_018335	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266389	0.40095	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.22945	1.93;1.93	5.16	2.23	0.28157	.	0.511935	0.15192	U	0.275483	T	0.37544	0.1007	M	0.62723	1.935	0.24539	N	0.994075	D;D;D;D	0.71674	0.998;0.996;0.996;0.996	P;P;P;P	0.54460	0.753;0.668;0.492;0.668	T	0.17653	-1.0362	10	0.72032	D	0.01	.	10.2343	0.43273	0.0724:0.2837:0.6439:0.0	.	496;380;259;380	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	M	496;380;48	ENSP00000399863:V496M;ENSP00000262236:V380M	ENSP00000262236:V380M	V	+	1	0	ZNF839	101870713	0.998000	0.40836	0.076000	0.20297	0.177000	0.22998	2.689000	0.46993	0.247000	0.21414	0.561000	0.74099	GTG	.		0.403	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		A	102800960	G	A	102800960	3	1	16	1	0	0	0	0	1	0	0	0	18236	1145	40	1	1500	1	ZNF839	14	102800960	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	252214	102800960	4548580	66	2216											
TMEM87A	25963	broad.mit.edu	37	15	42519937	42519937	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr15:42519937A>G	ENST00000389834.4	-	14	1535	c.1271T>C	c.(1270-1272)aTg>aCg	p.M424T	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.M363T	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	424				MK -> KG (in Ref. 4; CAB43218). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-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;1.03e-06)		TCTGAACTTCATGGTTGTCCA	0.373																																					p.M424T													.	TMEM87A	56	0			c.T1271C						.						124	113	116					15																	42519937		2203	4299	6502	SO:0001583	missense	25963	exon14			AACTTCATGGTTG	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1271T>C	15.37:g.42519937A>G	ENSP00000374484:p.Met424Thr	39	0		38	3	NM_015497	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.203570	0.38905	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.45	4.26	0.50523	.	0.149442	0.64402	D	0.000011	T	0.46092	0.1375	L	0.36672	1.1	0.37597	D	0.92041	P	0.47545	0.897	P	0.48488	0.579	T	0.43621	-0.9380	9	0.22706	T	0.39	-18.0816	9.3909	0.38372	0.8414:0.0:0.0:0.1586	.	424	Q8NBN3	TM87A_HUMAN	T	424;363;400	.	ENSP00000374484:M424T	M	-	2	0	TMEM87A	40307229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.082000	0.41605	2.072000	0.62099	0.533000	0.62120	ATG	.		0.373	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		G	42519937	A	G	42519937	3	3	16	1	0	0	0	0	1	0	0	0	16257	217	8	4	424	4	TMEM87A	15	42519937	Missense_Mutation	SNP	A	TCGA-W5-AA2W-01A-11D-A417-09		42519937	60011455	67	2217											
MAP1A	4130	hgsc.bcm.edu	37	15	43818597	43818597	+	Missense_Mutation	SNP	G	G	T	rs372656438		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr15:43818597G>T	ENST00000300231.5	+	4	5376	c.4926G>T	c.(4924-4926)agG>agT	p.R1642S	MAP1A_ENST00000382031.1_Missense_Mutation_p.R1880S|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1642S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1642					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)	AGTACTGGAGGGGGCAGGATG	0.567																																					p.R1642S		.											.	.	.	0			c.G4926T						.	G	SER/ARG	0,3920		0,0,1960	46	59	55		4926	3.6	1	15		55	4,8280		0,4,4138	no	missense	MAP1A	NM_002373.5	110	0,4,6098	TT,TG,GG		0.0483,0.0,0.0328	benign	1642/2804	43818597	4,12200	1960	4142	6102	SO:0001583	missense	4130	exon4			CTGGAGGGGGCAG	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.4926G>T	15.37:g.43818597G>T	ENSP00000300231:p.Arg1642Ser	62	0		78	3	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	2.252	-0.371383	0.05034	0.0	4.83E-4	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01430	4.9;4.9;4.9	4.55	3.64	0.41730	.	.	.	.	.	T	0.01124	0.0037	N	0.14661	0.345	0.20873	N	0.999834	B	0.09022	0.002	B	0.09377	0.004	T	0.48603	-0.9021	9	0.26408	T	0.33	-10.3934	7.8974	0.29715	0.1899:0.0:0.8101:0.0	.	1642	P78559	MAP1A_HUMAN	S	1880;1642;1642	ENSP00000371462:R1880S;ENSP00000382380:R1642S;ENSP00000300231:R1642S	ENSP00000300231:R1642S	R	+	3	2	MAP1A	41605889	0.779000	0.28652	0.966000	0.40874	0.393000	0.30537	1.654000	0.37334	1.132000	0.42129	0.563000	0.77884	AGG	.		0.567	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43818597	G	T	43818597	3	4	16	1	0	0	0	0	1	0	0	0	9265	1223	43	3	4928	3	MAP1A	15	43818597	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	1298660	43818597	58712795	68	2218											
MYO9A	4649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	72226035	72226035	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr15:72226035G>C	ENST00000356056.5	-	18	3010	c.2538C>G	c.(2536-2538)ttC>ttG	p.F846L	MYO9A_ENST00000564571.1_Missense_Mutation_p.F846L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F846L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F466L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F827L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	846	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						GCTTGGATTTGAAATTTTTGT	0.289																																					p.F846L		.											.	.	.	0			c.C2538G						.						78	85	83					15																	72226035		2199	4291	6490	SO:0001583	missense	4649	exon18			GGATTTGAAATTT	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.2538C>G	15.37:g.72226035G>C	ENSP00000348349:p.Phe846Leu	183	0		180	101	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480778	0.44044	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.84070	-1.8;-1.8;-1.79	4.53	0.644	0.17776	Myosin head, motor domain (1);	.	.	.	.	T	0.68403	0.2997	N	0.21324	0.655	0.30634	N	0.75723	B;B;B	0.31274	0.317;0.0;0.027	B;B;B	0.29785	0.107;0.002;0.017	T	0.62955	-0.6744	9	0.49607	T	0.09	.	5.7769	0.18283	0.1651:0.3289:0.5061:0.0	.	827;827;846	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	L	846;846;827;827	ENSP00000348349:F846L;ENSP00000399162:F846L;ENSP00000398250:F827L	ENSP00000261864:F827L	F	-	3	2	MYO9A	70013089	1.000000	0.71417	0.368000	0.25939	0.874000	0.50279	1.258000	0.32944	0.180000	0.19960	0.460000	0.39030	TTC	.		0.289	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		C	72226035	G	C	72226035	3	2	16	1	0	0	0	0	1	0	0	0	10122	1281	45	5	5208	5	MYO9A	15	72226035	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	28407438	72226035	30305357	69	2219											
AKAP13	11214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	86125248	86125248	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr15:86125248G>A	ENST00000394518.2	+	7	4044	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.E1317K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1317					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						TACTCCTGAGGAAGCCACGGG	0.522																																					p.E1317K	Melanoma(94;603 1453 3280 32295 32951)	.											.	.	.	0			c.G3949A						.						56	54	55					15																	86125248		2202	4299	6501	SO:0001583	missense	11214	exon7			CCTGAGGAAGCCA	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.3949G>A	15.37:g.86125248G>A	ENSP00000378026:p.Glu1317Lys	44	0		40	14	NM_007200	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978874	0.53720	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.19806	2.12;2.12	4.87	4.87	0.63330	.	.	.	.	.	T	0.29093	0.0723	M	0.65975	2.015	0.58432	D	0.999999	P;P	0.45531	0.78;0.86	B;P	0.44561	0.265;0.453	T	0.08086	-1.0739	9	0.66056	D	0.02	.	13.5193	0.61559	0.0:0.0:1.0:0.0	.	1317;1317	Q12802;Q12802-2	AKP13_HUMAN;.	K	1317;1317;1316;1316	ENSP00000354718:E1317K;ENSP00000378026:E1317K	ENSP00000354718:E1317K	E	+	1	0	AKAP13	83926252	0.978000	0.34361	0.031000	0.17742	0.006000	0.05464	4.329000	0.59260	2.240000	0.73641	0.655000	0.94253	GAA	.		0.522	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		A	86125248	G	A	86125248	3	1	16	1	0	0	0	0	1	0	0	0	449	1175	41	3	3971	3	AKAP13	15	86125248	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	13899213	86125248	16406144	70	2220											
BLM	641	broad.mit.edu;bcgsc.ca	37	15	91310162	91310162	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr15:91310162G>T	ENST00000355112.3	+	10	2334	c.2216G>T	c.(2215-2217)gGt>gTt	p.G739V	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.G739V	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	739	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			TATCTGACAGGTGATAAGACT	0.294			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.G739V			yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	.	BLM	122	0			c.G2216T						.						53	57	55					15																	91310162		2196	4279	6475	SO:0001583	missense	641	exon10	Familial Cancer Database		TGACAGGTGATAA	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.2216G>T	15.37:g.91310162G>T	ENSP00000347232:p.Gly739Val	178	1		178	7	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557502	0.86231	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	D	0.83250	-1.7	5.74	5.74	0.90152	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.79784	0.989;0.985;0.993	D	0.94967	0.8113	10	0.87932	D	0	-10.6591	17.4221	0.87517	0.0:0.0:1.0:0.0	.	739;364;739	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	V	739;392	ENSP00000347232:G739V	ENSP00000347232:G739V	G	+	2	0	BLM	89111166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.977000	0.93446	2.708000	0.92522	0.585000	0.79938	GGT	.		0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			T	91310162	G	T	91310162	3	4	16	1	0	0	0	0	1	0	0	0	1447	1261	44	3	2250	3	BLM	15	91310162	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	5184914	91310162	11221230	71	2221											
VPS33B	26276	hgsc.bcm.edu	37	15	91557064	91557064	+	Silent	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr15:91557064G>A	ENST00000333371.3	-	5	680	c.327C>T	c.(325-327)cgC>cgT	p.R109R	VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Silent_p.R82R|VPS33B_ENST00000535843.1_Silent_p.R18R	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	109					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)					CTTTGTATTTGCGAGTTCGGC	0.512																																					p.R109R		.											VPS33B,NS,carcinoma,0,1	VPS33B	0	0			c.C327T						.						160	140	147					15																	91557064		2198	4298	6496	SO:0001819	synonymous_variant	26276	exon5			GTATTTGCGAGTT	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.327C>T	15.37:g.91557064G>A		57	0		66	4	NM_018668	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	ENST00000333371.3	37	CCDS10369.1																																																																																			.		0.512	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		A	91557064	G	A	91557064	2	1	16	1	0	0	0	0	0	0	0	1	17251	1306	46	3		3	VPS33B	15	91557064	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	246902	91557064	10974328	72	2222											
A2BP1	54715	hgsc.bcm.edu	37	16	7629838	7629838	+	Silent	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr16:7629838G>T	ENST00000550418.1	+	6	1318	c.330G>T	c.(328-330)acG>acT	p.T110T	RBFOX1_ENST00000311745.5_Silent_p.T130T|RBFOX1_ENST00000547338.1_Silent_p.T110T|RBFOX1_ENST00000436368.2_Silent_p.T130T|RBFOX1_ENST00000547372.1_Silent_p.T153T|RBFOX1_ENST00000552089.1_Silent_p.T145T|RBFOX1_ENST00000553186.1_Silent_p.T110T|RBFOX1_ENST00000355637.4_Silent_p.T130T|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000422070.4_Silent_p.T153T|RBFOX1_ENST00000340209.4_Silent_p.T115T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	110					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						CTGAAAACACGGAAAACAAGT	0.512																																					p.T130T	Ovarian(157;934 2567 15163 39509)	.											RBFOX1_ENST00000550418,NS,carcinoma,0,3	RBFOX1_ENST00000550418	0	0			c.G390T						.						149	136	140					16																	7629838		2197	4300	6497	SO:0001819	synonymous_variant	54715	exon3			AAACACGGAAAAC	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.330G>T	16.37:g.7629838G>T		54	0		20	2	NM_145891	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																			.		0.512	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		T	7629838	G	T	7629838	2	4	16	1	0	0	0	0	0	0	0	1	3	1103	39	2		2	A2BP1	16	7629838	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09		7629838	82724915	73	2223											
DNAH2	146754	hgsc.bcm.edu;broad.mit.edu	37	17	7644290	7644290	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr17:7644290C>T	ENST00000572933.1	+	11	3129	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	DNAH2_ENST00000570791.1_Missense_Mutation_p.R639C|DNAH2_ENST00000389173.2_Missense_Mutation_p.R557C|DNAH2_ENST00000082259.3_Missense_Mutation_p.R639C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	557	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)				CCTCCGGCGTCGCATCGACAG	0.612																																					p.R557C		.											.	.	.	0			c.C1669T						.						79	75	76					17																	7644290		2203	4300	6503	SO:0001583	missense	146754	exon10			CGGCGTCGCATCG	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.1669C>T	17.37:g.7644290C>T	ENSP00000458355:p.Arg557Cys	9	0		10	7	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292608	0.59976	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.66460	-0.21;-0.21	5.23	5.23	0.72850	Dynein heavy chain, domain-1 (1);	0.204155	0.42821	D	0.000652	D	0.83945	0.5364	M	0.84846	2.72	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.86688	0.1921	10	0.87932	D	0	.	17.5708	0.87933	0.0:1.0:0.0:0.0	.	557;639	Q9P225;Q9P225-3	DYH2_HUMAN;.	C	557;557;639	ENSP00000373825:R557C;ENSP00000082259:R639C	ENSP00000082259:R639C	R	+	1	0	DNAH2	7585015	1.000000	0.71417	0.893000	0.35052	0.028000	0.11728	6.153000	0.71819	2.461000	0.83175	0.557000	0.71058	CGC	.		0.612	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7644290	C	T	7644290	3	4	16	1	0	0	0	0	1	0	0	0	4616	884	31	1	1707	1	DNAH2	17	7644290	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		7644290	73550920	74	2224											
MYH8	4626	hgsc.bcm.edu	37	17	10303865	10303865	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr17:10303865C>T	ENST00000403437.2	-	27	3671	c.3577G>A	c.(3577-3579)Gct>Act	p.A1193T	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	1193					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)	p.A1193S(1)		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						CGAAGAGCAGCCACCATAGCT	0.542									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.A1193T		.											MYH8,NS,carcinoma,0,1	MYH8	0	1	Substitution - Missense(1)	lung(1)	c.G3577A						.						79	77	77					17																	10303865		2203	4300	6503	SO:0001583	missense	4626	exon27	Familial Cancer Database	Carney Complex Variant	GAGCAGCCACCAT		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.3577G>A	17.37:g.10303865C>T	ENSP00000384330:p.Ala1193Thr	38	1		37	2	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717788	0.30413	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79033	-1.23	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.41396	U	0.000883	T	0.78761	0.4334	M	0.76328	2.33	0.49483	D	0.99979	B	0.15141	0.012	B	0.26693	0.072	T	0.76176	-0.3055	10	0.59425	D	0.04	.	14.131	0.65253	0.1499:0.8501:0.0:0.0	.	1193	P13535	MYH8_HUMAN	T	1193	ENSP00000384330:A1193T	ENSP00000252173:A1193T	A	-	1	0	MYH8	10244590	0.997000	0.39634	0.176000	0.23000	0.005000	0.04900	3.534000	0.53568	2.785000	0.95823	0.655000	0.94253	GCT	.		0.542	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10303865	C	T	10303865	3	4	16	1	0	0	0	0	1	0	0	0	10079	739	26	3	2292	3	MYH8	17	10303865	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	2659575	10303865	70891345	75	2225											
PIP4K2B	8396	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	36934618	36934618	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr17:36934618G>A	ENST00000269554.3	-	6	1142	c.662C>T	c.(661-663)aCg>aTg	p.T221M	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	221	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						TCTGGCAACCGTAGAACCCTG	0.537																																					p.T221M		.											.	.	.	0			c.C662T						.						165	160	162					17																	36934618		2203	4300	6503	SO:0001583	missense	8396	exon6			GCAACCGTAGAAC	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.662C>T	17.37:g.36934618G>A	ENSP00000269554:p.Thr221Met	37	0		25	4	NM_003559	Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678311	0.88542	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.33216	1.42	4.82	4.82	0.62117	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.051143	0.85682	D	0.000000	T	0.53286	0.1787	M	0.74881	2.28	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.991	P;P;P	0.61477	0.809;0.774;0.889	T	0.58160	-0.7685	10	0.66056	D	0.02	-11.1767	16.6288	0.85011	0.0:0.0:1.0:0.0	.	221;221;221	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	M	221	ENSP00000269554:T221M	ENSP00000269554:T221M	T	-	2	0	PIP4K2B	34188144	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.191000	0.77763	2.516000	0.84829	0.561000	0.74099	ACG	.		0.537	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		A	36934618	G	A	36934618	3	1	16	1	0	0	0	0	1	0	0	0	11976	1145	40	1	608	1	PIP4K2B	17	36934618	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	26630753	36934618	44260592	76	2226											
CDC27	996	ucsc.edu;bcgsc.ca	37	17	45232055	45232055	+	Missense_Mutation	SNP	C	C	T	rs200268612		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr17:45232055C>T	ENST00000066544.3	-	8	1033	c.940G>A	c.(940-942)Gga>Aga	p.G314R	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Missense_Mutation_p.G314R|CDC27_ENST00000527547.1_Missense_Mutation_p.G314R|CDC27_ENST00000446365.2_Missense_Mutation_p.G253R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	314					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						GAAGGGGCTCCGGTGGATGGC	0.373																																					p.G314R													.	CDC27	337	0			c.G940A						.						42	42	42					17																	45232055		2203	4300	6503	SO:0001583	missense	996	exon8			GGGCTCCGGTGGA	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.940G>A	17.37:g.45232055C>T	ENSP00000066544:p.Gly314Arg	54	2		45	22	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887899	0.33348	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66638	-0.2;-0.22;0.08;-0.2;0.98	5.92	5.92	0.95590	.	0.186621	0.46442	D	0.000293	T	0.42245	0.1194	N	0.02539	-0.55	0.52501	D	0.999951	B;B;B;B	0.14012	0.009;0.001;0.002;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.41305	-0.9516	10	0.13853	T	0.58	-4.7594	17.8238	0.88658	0.0:1.0:0.0:0.0	.	253;314;314;314	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	R	314;314;253;314;314	ENSP00000066544:G314R;ENSP00000434614:G314R;ENSP00000392802:G253R;ENSP00000437339:G314R;ENSP00000432105:G314R	ENSP00000066544:G314R	G	-	1	0	CDC27	42587054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.810000	0.96702	0.585000	0.79938	GGA	.		0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45232055	C	T	45232055	3	4	16	1	0	0	0	0	1	0	0	0	3073	661	23	1	1600	1	CDC27	17	45232055	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	8297437	45232055	35963155	77	2227											
RSAD1	55316	broad.mit.edu	37	17	48560713	48560713	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr17:48560713G>T	ENST00000258955.2	+	6	1002	c.917G>T	c.(916-918)cGa>cTa	p.R306L		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	306					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCCATGGACGATTTATGCCC	0.532																																					p.R306L													RSAD1,colon,carcinoma,+1,1	RSAD1	36	0			c.G917T						.						37	39	38					17																	48560713		2203	4300	6503	SO:0001583	missense	55316	exon6			ATGGACGATTTAT	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.917G>T	17.37:g.48560713G>T	ENSP00000258955:p.Arg306Leu	47	0		32	3	NM_018346	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833420	0.50951	.	.	ENSG00000136444	ENST00000258955	T	0.22134	1.97	5.28	3.29	0.37713	HemN, C-terminal (1);	0.229060	0.36200	N	0.002733	T	0.35770	0.0943	L	0.58510	1.815	0.43678	D	0.99611	D	0.71674	0.998	P	0.59357	0.856	T	0.10567	-1.0624	10	0.87932	D	0	-1.9491	11.3751	0.49724	0.1492:0.0:0.8508:0.0	.	306	Q9HA92	RSAD1_HUMAN	L	306	ENSP00000258955:R306L	ENSP00000258955:R306L	R	+	2	0	RSAD1	45915712	1.000000	0.71417	0.958000	0.39756	0.076000	0.17211	5.505000	0.66981	0.733000	0.32492	-0.136000	0.14681	CGA	.		0.532	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		T	48560713	G	T	48560713	3	4	16	1	0	0	0	0	1	0	0	0	13739	1058	37	2	939	2	RSAD1	17	48560713	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	3328658	48560713	32634497	78	2228											
GPS1	2873	bcgsc.ca	37	17	80013654	80013654	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr17:80013654G>A	ENST00000306823.6	+	7	822	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	GPS1_ENST00000320548.4_Missense_Mutation_p.A247T|GPS1_ENST00000392358.2_Missense_Mutation_p.A303T|GPS1_ENST00000355130.2_Missense_Mutation_p.A303T|GPS1_ENST00000578552.1_Missense_Mutation_p.A263T			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	267					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	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;0.0211)			CAAGCAGGCTGCCAAGTGCCT	0.647																																					p.A303T													.	GPS1	30	0			c.G907A						.						22	18	19					17																	80013654		2170	4270	6440	SO:0001583	missense	2873	exon7			CAGGCTGCCAAGT		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.799G>A	17.37:g.80013654G>A	ENSP00000302873:p.Ala267Thr	27	0		15	3	NM_212492	Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447111	0.96205	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	T;T;T	0.81415	-0.83;-1.49;-0.83	4.82	4.82	0.62117	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.94503	3.545	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	0.87578	0.998;0.993;0.996;0.997;0.995;0.988	D	0.94580	0.7778	10	0.62326	D	0.03	-34.7319	17.8979	0.88895	0.0:0.0:1.0:0.0	.	259;302;252;263;267;303	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	T	303;253;267;303	ENSP00000376167:A303T;ENSP00000313569:A253T;ENSP00000347251:A303T	ENSP00000302873:A267T	A	+	1	0	GPS1	77606943	1.000000	0.71417	0.994000	0.49952	0.906000	0.53458	7.303000	0.78871	2.234000	0.73211	0.557000	0.71058	GCC	.		0.647	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		A	80013654	G	A	80013654	3	1	16	1	0	0	0	0	1	0	0	0	6759	1319	46	3	982	3	GPS1	17	80013654	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	31452941	80013654	1181556	79	2229											
HMHA1	23526	broad.mit.edu	37	19	1068619	1068619	+	Silent	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:1068619C>T	ENST00000313093.2	+	2	528	c.297C>T	c.(295-297)agC>agT	p.S99S	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Silent_p.S126S|HMHA1_ENST00000539243.2_Silent_p.S115S|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000586866.1_Silent_p.S103S|HMHA1_ENST00000592335.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	99					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)		CAGCCGCCAGCCCGGGCGAGC	0.731																																					p.S115S													.	HMHA1	78	0			c.C345T						.						13	15	14					19																	1068619		2089	4104	6193	SO:0001819	synonymous_variant	23526	exon2			CGCCAGCCCGGGC	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.297C>T	19.37:g.1068619C>T		10	0		8	3	NM_001258328	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																			.		0.731	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			T	1068619	C	T	1068619	2	4	16	1	0	0	0	0	0	0	0	1	7267	738	26	3		3	HMHA1	19	1068619	Silent	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		1068619	58060364	80	2230											
ZNF557	79230	hgsc.bcm.edu	37	19	7083328	7083328	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:7083328A>G	ENST00000439035.2	+	8	1085	c.845A>G	c.(844-846)gAg>gGg	p.E282G	ZNF557_ENST00000252840.6_Missense_Mutation_p.E289G|ZNF557_ENST00000414706.1_Missense_Mutation_p.E289G			Q8N988	ZN557_HUMAN	zinc finger protein 557	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)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CATACGGGGGAGGGTCATTAT	0.453																																					p.E289G		.											ZNF557,right_lower_lobe,carcinoma,0,1	ZNF557	0	0			c.A866G						.						124	135	132					19																	7083328		2160	4275	6435	SO:0001583	missense	79230	exon8			CGGGGGAGGGTCA	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.845A>G	19.37:g.7083328A>G	ENSP00000398965:p.Glu282Gly	52	0		50	2	NM_001044387	Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213451	0.39102	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.27557	1.66;1.66;1.66	1.32	0.0813	0.14424	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34221	0.0890	M	0.83118	2.625	0.18873	N	0.999986	B;B	0.33448	0.412;0.359	B;B	0.35655	0.207;0.131	T	0.37888	-0.9686	9	0.87932	D	0	.	4.3989	0.11376	0.7061:0.0:0.0:0.2939	.	282;289	Q8N988;Q8N988-2	ZN557_HUMAN;.	G	289;289;282	ENSP00000252840:E289G;ENSP00000404065:E289G;ENSP00000398965:E282G	ENSP00000252840:E289G	E	+	2	0	ZNF557	7034328	1.000000	0.71417	0.001000	0.08648	0.085000	0.17905	3.467000	0.53078	-0.026000	0.13895	0.260000	0.18958	GAG	.		0.453	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		G	7083328	A	G	7083328	3	3	16	1	0	0	0	0	1	0	0	0	18036	304	11	4	888	4	ZNF557	19	7083328	Missense_Mutation	SNP	A	TCGA-W5-AA2W-01A-11D-A417-09	6014709	7083328	52045655	81	2231											
HSH2D	84941	bcgsc.ca	37	19	16268483	16268483	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:16268483G>T	ENST00000253680.6	+	9	1468	c.937G>T	c.(937-939)Gta>Tta	p.V313L	HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.V223L|HSH2D_ENST00000588246.1_3'UTR			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	313					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						GCACCAAATGGTAGTGAGAGC	0.617																																					p.V313L													.	HSH2D	16	0			c.G937T						.						43	50	48					19																	16268483		2035	4194	6229	SO:0001583	missense	84941	exon9			CAAATGGTAGTGA	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.937G>T	19.37:g.16268483G>T	ENSP00000253680:p.Val313Leu	58	0		45	4	NM_032855	B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37		.	.	.	.	.	.	.	.	.	.	G	11.56	1.675202	0.29783	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.52754	0.65	3.35	-4.37	0.03633	.	1.612380	0.04031	N	0.301508	T	0.28830	0.0715	.	.	.	0.09310	N	1	B	0.29378	0.243	B	0.22601	0.04	T	0.15607	-1.0431	9	0.72032	D	0.01	.	1.0103	0.01495	0.4096:0.1562:0.2753:0.1589	.	313	Q96JZ2	HSH2D_HUMAN	L	223;313	ENSP00000253680:V313L	ENSP00000253680:V313L	V	+	1	0	HSH2D	16129483	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.683000	0.05179	-0.831000	0.04256	0.561000	0.74099	GTA	.		0.617	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		T	16268483	G	T	16268483	3	4	16	1	0	0	0	0	1	0	0	0	7427	1261	44	3	956	3	HSH2D	19	16268483	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	9185155	16268483	42860500	82	2232											
ZNF100	163227	hgsc.bcm.edu;bcgsc.ca	37	19	21910398	21910398	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:21910398C>T	ENST00000358296.6	-	5	914	c.716G>A	c.(715-717)gGc>gAc	p.G239D	ZNF100_ENST00000305570.6_Missense_Mutation_p.G175D	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGGCTTTGCCACAATCTTT	0.353																																					p.G239D		.											.	.	.	0			c.G716A						.						62	67	65					19																	21910398		2129	4267	6396	SO:0001583	missense	163227	exon5			GCTTTGCCACAAT	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.716G>A	19.37:g.21910398C>T	ENSP00000351042:p.Gly239Asp	97	0		84	4	NM_173531	Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	5.114	0.206607	0.09704	.	.	ENSG00000197020	ENST00000358296	T	0.01430	4.9	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	L	0.41124	1.26	0.22701	N	0.99884	P;B	0.39551	0.678;0.372	B;B	0.33254	0.157;0.16	T	0.49331	-0.8951	9	0.59425	D	0.04	.	5.1103	0.14806	0.3432:0.6568:0.0:0.0	.	239;293	Q8IYN0;Q4G131	ZN100_HUMAN;.	D	239	ENSP00000351042:G239D	ENSP00000351042:G239D	G	-	2	0	ZNF100	21702238	.	.	0.533000	0.28001	0.803000	0.45373	.	.	0.171000	0.19730	0.174000	0.16983	GGC	.		0.353	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		T	21910398	C	T	21910398	3	4	16	1	0	0	0	0	1	0	0	0	17761	739	26	3	916	3	ZNF100	19	21910398	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	5641915	21910398	37218585	83	2233											
CYP2F1	1572	hgsc.bcm.edu	37	19	41628798	41628798	+	Silent	SNP	C	C	T	rs374776224		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:41628798C>T	ENST00000331105.2	+	7	966	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	298					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						TGCTCTTTGGCGGCACCAAGA	0.582																																					p.G298G		.											.	.	.	0			c.C894T						.	C		0,4406		0,0,2203	236	167	190		894	-2.6	0.4	19		190	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYP2F1	NM_000774.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		298/492	41628798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1572	exon7			CTTTGGCGGCACC	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.894C>T	19.37:g.41628798C>T		45	0		46	4	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	CCDS12572.1																																																																																			.		0.582	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			T	41628798	C	T	41628798	2	4	16	1	0	0	0	0	0	0	0	1	4180	755	27	1		1	CYP2F1	19	41628798	Silent	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09	19718400	41628798	17500185	84	2234											
AP2S1	1175	broad.mit.edu	37	19	47349293	47349293	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:47349293G>T	ENST00000263270.6	-	2	335	c.110C>A	c.(109-111)gCc>gAc	p.A37D	AP2S1_ENST00000352203.4_Missense_Mutation_p.A37D|AP2S1_ENST00000599990.1_Missense_Mutation_p.A39D|AP2S1_ENST00000593442.1_Intron|AP2S1_ENST00000601649.1_Missense_Mutation_p.A37D|AP2S1_ENST00000597020.1_Missense_Mutation_p.A17D|AP2S1_ENST00000601498.1_Missense_Mutation_p.A53D	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	37					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)		GGTGACCACGGCATGCACCTC	0.582																																					p.A37D													.	AP2S1	12	0			c.C110A						.						182	129	147					19																	47349293		2203	4300	6503	SO:0001583	missense	1175	exon2			ACCACGGCATGCA	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.110C>A	19.37:g.47349293G>T	ENSP00000263270:p.Ala37Asp	21	0		17	3	NM_004069	B2R4Z4|O75977|Q6PK67	Missense_Mutation	SNP	ENST00000263270.6	37	CCDS33062.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079471	0.94050	.	.	ENSG00000042753	ENST00000263270;ENST00000352203	.	.	.	4.87	4.87	0.63330	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	L	0.48642	1.525	0.80722	D	1	P;D	0.55800	0.906;0.973	P;P	0.50378	0.471;0.639	T	0.63382	-0.6650	9	0.49607	T	0.09	.	16.9222	0.86166	0.0:0.0:1.0:0.0	.	37;37	P53680-2;P53680	.;AP2S1_HUMAN	D	37	.	ENSP00000263270:A37D	A	-	2	0	AP2S1	52041133	1.000000	0.71417	0.920000	0.36463	0.865000	0.49528	9.023000	0.93683	2.536000	0.85505	0.467000	0.42956	GCC	.		0.582	AP2S1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466643.1			T	47349293	G	T	47349293	3	4	16	1	0	0	0	0	1	0	0	0	743	1203	42	3	334	3	AP2S1	19	47349293	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	5720495	47349293	11779690	85	2235											
KCNJ14	3770	ucsc.edu	37	19	48967988	48967988	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:48967988G>A	ENST00000391884.1	+	2	1741	c.1265G>A	c.(1264-1266)aGc>aAc	p.S422N	CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000593476.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.S422N|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000600529.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	422					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	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;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GGGGCTGCTAGCCCCCGAGTT	0.557																																					p.P422Q	NSCLC(148;170 3504 35216)												.	KCNJ14	28	0			c.C1265A						.						60	61	61					19																	48967988		2203	4300	6503	SO:0001583	missense	3770	exon3			CTGCTAGCCCCCG	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1265G>A	19.37:g.48967988G>A	ENSP00000375756:p.Ser422Asn	33	0		41	4	NM_013348		Missense_Mutation	SNP	ENST00000391884.1	37	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134534	0.37630	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.89196	-2.48;-2.48	5.24	3.14	0.36123	.	1.263970	0.05234	N	0.510937	T	0.79028	0.4377	N	0.19112	0.55	0.24966	N	0.991693	B	0.02656	0.0	B	0.01281	0.0	T	0.65154	-0.6237	10	0.14252	T	0.57	.	4.2996	0.10918	0.1825:0.0:0.635:0.1824	.	422	Q9UNX9	IRK14_HUMAN	N	422	ENSP00000341479:S422N;ENSP00000375756:S422N	ENSP00000341479:S422N	S	+	2	0	KCNJ14	53659800	0.956000	0.32656	1.000000	0.80357	0.905000	0.53344	0.143000	0.16115	1.542000	0.49330	-0.140000	0.14226	AGC	.		0.557	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		A	48967988	G	A	48967988	3	1	16	1	0	0	0	0	1	0	0	0	8075	971	34	3	1271	3	KCNJ14	19	48967988	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	1618695	48967988	10160995	86	2236											
KLK6	5653	hgsc.bcm.edu	37	19	51470530	51470530	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:51470530G>T	ENST00000376851.3	-	3	531	c.92C>A	c.(91-93)aCa>aAa	p.T31K	KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000376853.4_Missense_Mutation_p.T31K|CTB-147C22.9_ENST00000594512.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.T31K|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.T31K	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	31	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)		GGGGTGAGATGTCTTGTCGCA	0.572																																					p.T31K		.											KLK6,colon,carcinoma,0,1	KLK6	0	0			c.C92A						.						143	127	132					19																	51470530		2203	4300	6503	SO:0001583	missense	5653	exon3			TGAGATGTCTTGT	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.92C>A	19.37:g.51470530G>T	ENSP00000366047:p.Thr31Lys	47	0		43	2	NM_001012964	A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856418	0.32791	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000376853	D;D;T	0.92805	-3.11;-3.11;-1.49	4.18	-7.56	0.01322	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.606870	0.04212	N	0.331990	T	0.81555	0.4847	N	0.14661	0.345	0.09310	N	1	P;B	0.34462	0.454;0.094	B;B	0.37780	0.258;0.006	T	0.73014	-0.4116	10	0.72032	D	0.01	.	1.2877	0.02054	0.17:0.3087:0.1598:0.3615	.	31;31	E7ETY0;Q92876	.;KLK6_HUMAN	K	31	ENSP00000309148:T31K;ENSP00000366047:T31K;ENSP00000366049:T31K	ENSP00000309148:T31K	T	-	2	0	KLK6	56162342	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	-0.946000	0.03677	0.455000	0.32223	ACA	.		0.572	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		T	51470530	G	T	51470530	3	4	16	1	0	0	0	0	1	0	0	0	8435	1377	48	3	658	3	KLK6	19	51470530	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	2502542	51470530	7658453	87	2237											
KLK10	5655	hgsc.bcm.edu	37	19	51518101	51518101	+	Silent	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:51518101G>T	ENST00000309958.3	-	6	1004	c.786C>A	c.(784-786)atC>atA	p.I262I	CTB-147C22.9_ENST00000594512.1_RNA|CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000391805.1_Silent_p.I262I|KLK10_ENST00000358789.3_Silent_p.I262I	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	262	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGTATTTGCAGATCTGGGTGT	0.547																																					p.I262I		.											KLK10,NS,carcinoma,0,1	KLK10	0	0			c.C786A						.						133	122	126					19																	51518101		2203	4300	6503	SO:0001819	synonymous_variant	5655	exon6			TTTGCAGATCTGG	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.786C>A	19.37:g.51518101G>T		50	0		46	2	NM_145888	A6NC12|Q53YL3|Q99920|Q9GZW9	Silent	SNP	ENST00000309958.3	37	CCDS12817.1																																																																																			.		0.547	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		T	51518101	G	T	51518101	2	4	16	1	0	0	0	0	0	0	0	1	8425	932	33	3		3	KLK10	19	51518101	Silent	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	47571	51518101	7610882	88	2238											
LIM2	3982	hgsc.bcm.edu	37	19	51883801	51883801	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:51883801A>G	ENST00000596399.1	-	4	465	c.418T>C	c.(418-420)Tac>Cac	p.Y140H	LIM2_ENST00000221973.3_Missense_Mutation_p.Y182H	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	140					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAGGATGTAGGACCAGGAA	0.622																																					p.Y182H		.											.	.	.	0			c.T544C						.						143	143	143					19																	51883801		2203	4300	6503	SO:0001583	missense	3982	exon4			GGATGTAGGACCA		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.418T>C	19.37:g.51883801A>G	ENSP00000472090:p.Tyr140His	41	0		55	4	NM_030657	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371793	0.82573	.	.	ENSG00000105370	ENST00000221973	D	0.90261	-2.64	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	M	0.82630	2.6	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.95449	0.8532	10	0.87932	D	0	0.7713	12.201	0.54326	1.0:0.0:0.0:0.0	.	140;182	P55344;P55344-2	LMIP_HUMAN;.	H	182	ENSP00000221973:Y182H	ENSP00000221973:Y182H	Y	-	1	0	LIM2	56575613	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	8.199000	0.89731	1.769000	0.52152	0.533000	0.62120	TAC	.		0.622	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		G	51883801	A	G	51883801	3	3	16	1	0	0	0	0	1	0	0	0	8824	420	15	4	111	4	LIM2	19	51883801	Missense_Mutation	SNP	A	TCGA-W5-AA2W-01A-11D-A417-09	365700	51883801	7245182	89	2239											
ZNF583	147949	hgsc.bcm.edu	37	19	56935118	56935118	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr19:56935118G>A	ENST00000333201.9	+	5	1301	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	ZNF583_ENST00000291598.7_Missense_Mutation_p.R364H|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTAGCCATCGTGGATACCTA	0.423																																					p.R364H		.											ZNF583,right_upper_lobe,carcinoma,0,1	ZNF583	0	0			c.G1091A						.						117	119	118					19																	56935118		2203	4300	6503	SO:0001583	missense	147949	exon5			GCCATCGTGGATA	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1091G>A	19.37:g.56935118G>A	ENSP00000388502:p.Arg364His	42	0		45	2	NM_001159861	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331851	0.41297	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.08370	3.1;3.1	3.96	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000373	T	0.09423	0.0232	N	0.16656	0.425	0.09310	N	1	D	0.89917	1.0	D	0.63192	0.912	T	0.16188	-1.0411	9	.	.	.	.	3.5396	0.07806	0.1963:0.0:0.591:0.2127	.	364	Q96ND8	ZN583_HUMAN	H	364	ENSP00000291598:R364H;ENSP00000388502:R364H	.	R	+	2	0	ZNF583	61626930	0.001000	0.12720	0.001000	0.08648	0.918000	0.54935	0.000000	0.12993	0.972000	0.38314	0.462000	0.41574	CGT	.		0.423	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		A	56935118	G	A	56935118	3	1	16	1	0	0	0	0	1	0	0	0	18063	1145	40	1	1105	1	ZNF583	19	56935118	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	5051317	56935118	2193865	90	2240											
B4GALT5	9334	hgsc.bcm.edu	37	20	48256337	48256337	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr20:48256337C>T	ENST00000371711.4	-	7	982	c.795G>A	c.(793-795)ctG>ctA	p.L265L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	265					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)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TATAAGGAAGCCTAGGAGGAG	0.458																																					p.L265L		.											.	.	.	0			c.G795A						.						107	101	103					20																	48256337		2203	4300	6503	SO:0001630	splice_region_variant	9334	exon7			AGGAAGCCTAGGA	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.795-1G>A	20.37:g.48256337C>T		108	0		73	4	NM_004776	E1P625|Q2M394|Q9UJQ8	Silent	SNP	ENST00000371711.4	37	CCDS13420.1																																																																																			.		0.458	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776	Silent	T	48256337	C	T	48256337	5	4	16	1	0	0	0	0	0	0	1	0	1275	753	26	3	383	3	B4GALT5	20	48256337	Splice_Site	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		48256337	14769183	91	2241											
KRTAP12-2	353323	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	46086661	46086661	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr21:46086661A>G	ENST00000360770.3	-	1	183	c.143T>C	c.(142-144)gTg>gCg	p.V48A	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	48	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						CTTGAAGCTCACGGGCACACA	0.657																																					p.V48A		.											.	.	.	0			c.T143C						.						63	71	68					21																	46086661		2188	4281	6469	SO:0001583	missense	353323	exon1			AAGCTCACGGGCA	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.143T>C	21.37:g.46086661A>G	ENSP00000354001:p.Val48Ala	53	0		18	11	NM_181684	A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	a	9.156	1.017495	0.19355	.	.	ENSG00000221864	ENST00000360770	T	0.02606	4.23	2.57	-1.53	0.08611	.	.	.	.	.	T	0.03739	0.0106	M	0.69248	2.105	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.39251	-0.9623	9	0.49607	T	0.09	.	3.9094	0.09196	0.3792:0.2178:0.403:0.0	.	48	P59991	KR122_HUMAN	A	48	ENSP00000354001:V48A	ENSP00000354001:V48A	V	-	2	0	KRTAP12-2	44911089	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.167000	0.09940	-0.331000	0.08501	0.379000	0.24179	GTG	.		0.657	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		G	46086661	A	G	46086661	3	3	16	1	0	0	0	0	1	0	0	0	8546	159	6	4	301	4	KRTAP12-2	21	46086661	Missense_Mutation	SNP	A	TCGA-W5-AA2W-01A-11D-A417-09		46086661	2043234	92	2242											
TRIOBP	11078	hgsc.bcm.edu	37	22	38121037	38121037	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr22:38121037G>T	ENST00000406386.3	+	7	2729	c.2474G>T	c.(2473-2475)aGa>aTa	p.R825I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	825					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)					AACATCCCCAGATCATCTTCT	0.512																																					p.R825I		.											TRIOBP_ENST00000344404,colon,carcinoma,0,1	TRIOBP_ENST00000344404	0	0			c.G2474T						.						151	160	157					22																	38121037		1997	4160	6157	SO:0001583	missense	11078	exon7			TCCCCAGATCATC	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.2474G>T	22.37:g.38121037G>T	ENSP00000384312:p.Arg825Ile	86	0		44	2	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898362	0.72639	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29655	1.56	4.07	1.81	0.25067	.	.	.	.	.	T	0.26340	0.0643	L	0.54323	1.7	0.18873	N	0.999982	P	0.48911	0.917	B	0.44278	0.445	T	0.10086	-1.0645	9	0.16896	T	0.51	.	5.4789	0.16713	0.1157:0.2038:0.6805:0.0	.	825	Q9H2D6	TARA_HUMAN	I	825	ENSP00000384312:R825I	ENSP00000384312:R825I	R	+	2	0	TRIOBP	36450983	0.055000	0.20627	0.244000	0.24202	0.709000	0.40893	1.067000	0.30616	0.915000	0.36847	0.460000	0.39030	AGA	.		0.512	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38121037	G	T	38121037	3	4	16	1	0	0	0	0	1	0	0	0	16601	942	33	3	2492	3	TRIOBP	22	38121037	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09		38121037	13183529	93	2243											
POLR3H	171568	ucsc.edu;bcgsc.ca	37	22	41928664	41928664	+	Splice_Site	SNP	G	G	A	rs369041845		TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr22:41928664G>A	ENST00000355209.4	-	3	637	c.294C>T	c.(292-294)caC>caT	p.H98H	POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000396504.2_Splice_Site_p.H98H|POLR3H_ENST00000407461.1_Splice_Site_p.H98H|POLR3H_ENST00000420561.1_5'UTR	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	98					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						CACTGTTACCGTGCACTCCTT	0.547											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H98H													.	POLR3H	30	0			c.C294T						.	G	,,	0,4406		0,0,2203	154	126	136		294,,294	-2.3	1	22		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,intron,coding-synonymous-near-splice	POLR3H	NM_001018050.2,NM_001018052.2,NM_138338.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	98/205,,98/205	41928664	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	171568	exon3			GTTACCGTGCACT	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.295+1C>T	22.37:g.41928664G>A		28	0	904	27	4	NM_001018050	B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Silent	SNP	ENST00000355209.4	37	CCDS14018.1																																																																																			.		0.547	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338	Silent	A	41928664	G	A	41928664	5	1	16	1	0	0	0	0	0	0	1	0	12275	1159	40	1	336	1	POLR3H	22	41928664	Splice_Site	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	3807627	41928664	9375902	94	2244											
XRCC6	2547	hgsc.bcm.edu;bcgsc.ca	37	22	42046801	42046801	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chr22:42046801G>T	ENST00000359308.4	+	7	1690	c.1035G>T	c.(1033-1035)ttG>ttT	p.L345F	XRCC6_ENST00000402580.3_Missense_Mutation_p.L304F|XRCC6_ENST00000428575.2_Missense_Mutation_p.L212F|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000405506.1_Missense_Mutation_p.L295F|XRCC6_ENST00000405878.1_Missense_Mutation_p.L345F|XRCC6_ENST00000360079.3_Missense_Mutation_p.L345F			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	345	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|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)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|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)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|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)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCAGGTTTGATGCTCATGG	0.473								Non-homologous end-joining																													p.L345F		.											.	.	.	0			c.G1035T						.						121	98	106					22																	42046801		2203	4300	6503	SO:0001583	missense	2547	exon8			AGGTTTGATGCTC	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1035G>T	22.37:g.42046801G>T	ENSP00000352257:p.Leu345Phe	85	0		63	4	NM_001469	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915921	0.52546	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	4.97	3.94	0.45596	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.133138	0.52532	N	0.000070	T	0.57227	0.2039	M	0.68952	2.095	0.80722	D	1	P;B;B;B	0.35481	0.504;0.363;0.372;0.363	B;B;B;B	0.43990	0.323;0.323;0.358;0.438	T	0.51896	-0.8647	9	0.22706	T	0.39	-4.6536	6.6862	0.23146	0.1521:0.1509:0.697:0.0	.	295;345;304;345	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	F	345;304;212;345;345;345;295	.	ENSP00000352257:L345F	L	+	3	2	XRCC6	40376747	0.997000	0.39634	0.986000	0.45419	0.911000	0.54048	2.447000	0.44917	1.192000	0.43071	0.650000	0.86243	TTG	.		0.473	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		T	42046801	G	T	42046801	3	4	16	1	0	0	0	0	1	0	0	0	17506	1281	45	3	1061	3	XRCC6	22	42046801	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	118137	42046801	9257765	95	2245											
CASK	8573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	41469246	41469246	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chrX:41469246C>T	ENST00000378163.1	-	12	1540	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	CASK_ENST00000421587.2_Missense_Mutation_p.E350K|CASK_ENST00000378158.1_Missense_Mutation_p.E356K|CASK_ENST00000378154.1_Missense_Mutation_p.E356K|CASK_ENST00000442742.2_Missense_Mutation_p.E356K|CASK_ENST00000361962.4_Missense_Mutation_p.E356K|CASK_ENST00000318588.9_Missense_Mutation_p.E356K|CASK_ENST00000378166.4_Missense_Mutation_p.E356K			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	356	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCATGAATCTCTTCCAGGCTG	0.428																																					p.E356K	NSCLC(42;104 1086 3090 27189 35040)	.											.	.	.	0			c.G1066A						.						79	65	70					X																	41469246		2203	4300	6503	SO:0001583	missense	8573	exon12			GAATCTCTTCCAG	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1066G>A	X.37:g.41469246C>T	ENSP00000367405:p.Glu356Lys	108	0		75	24	NM_001126054	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.671783	0.88348	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.69306	-0.35;-0.36;-0.37;-0.36;-0.36;-0.37;-0.36;-0.39	5.28	5.28	0.74379	L27, C-terminal (1);L27 (2);	0.000000	0.51477	D	0.000083	T	0.71584	0.3357	M	0.64997	1.995	0.80722	D	1	P;P;P;P	0.48998	0.557;0.512;0.696;0.918	B;B;B;P	0.47299	0.295;0.142;0.205;0.543	T	0.76307	-0.3007	10	0.72032	D	0.01	.	18.044	0.89327	0.0:1.0:0.0:0.0	.	350;356;356;356	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	K	350;356;356;356;356;356;356;356	ENSP00000400526:E350K;ENSP00000322727:E356K;ENSP00000354641:E356K;ENSP00000367405:E356K;ENSP00000367400:E356K;ENSP00000367408:E356K;ENSP00000398007:E356K;ENSP00000367396:E356K	ENSP00000322727:E356K	E	-	1	0	CASK	41354190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.196000	0.70406	0.600000	0.82982	GAG	.		0.428	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		T	41469246	C	T	41469246	3	4	16	1	0	0	0	0	1	0	0	0	2672	922	32	3	1778	3	CASK	23	41469246	Missense_Mutation	SNP	C	TCGA-W5-AA2W-01A-11D-A417-09		41469246	113801314	96	2246											
OTUD5	55593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	48801512	48801512	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2W-01A-11D-A417-09	TCGA-W5-AA2W-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	61c59381-50b9-4496-9009-b4232c3000bf	174984c1-38b2-4073-9373-9e603d987161	g.chrX:48801512G>T	ENST00000156084.4	-	2	687	c.627C>A	c.(625-627)gaC>gaA	p.D209E	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_5'UTR|OTUD5_ENST00000376488.3_Missense_Mutation_p.D209E|OTUD5_ENST00000396743.3_Missense_Mutation_p.D209E	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	209					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AGCCCTTCTTGTCTCGTAGGG	0.577																																					p.D209E		.											.	.	.	0			c.C627A						.						83	57	66					X																	48801512		2203	4300	6503	SO:0001583	missense	55593	exon2			CTTCTTGTCTCGT		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.627C>A	X.37:g.48801512G>T	ENSP00000156084:p.Asp209Glu	58	0		33	13	NM_001136157	B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	G	4.597	0.110968	0.08831	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.87	5.87	0.94306	.	0.125623	0.51477	D	0.000084	T	0.10852	0.0265	N	0.00246	-1.78	0.37453	D	0.914884	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.001	T	0.35871	-0.9771	10	0.02654	T	1	-26.6075	12.3585	0.55188	0.0:0.1648:0.8352:0.0	.	209;209	Q96G74;G5E9D7	OTUD5_HUMAN;.	E	209;185;82;209;209	ENSP00000379969:D209E;ENSP00000390767:D82E;ENSP00000156084:D209E;ENSP00000365671:D209E	ENSP00000156084:D209E	D	-	3	2	OTUD5	48686456	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.682000	0.37628	2.618000	0.88619	0.600000	0.82982	GAC	.		0.577	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		T	48801512	G	T	48801512	3	4	16	1	0	0	0	0	1	0	0	0	11354	1368	48	3	1120	3	OTUD5	23	48801512	Missense_Mutation	SNP	G	TCGA-W5-AA2W-01A-11D-A417-09	7332266	48801512	106469048	97	2247											
CCNL2	81669	hgsc.bcm.edu	37	1	1326205	1326205	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:1326205G>A	ENST00000400809.3	-	6	705	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	CCNL2_ENST00000408952.5_Missense_Mutation_p.R12W|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	234	Cyclin-like 2.				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)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGCTGGAACCGCACGAAGACG	0.547																																					p.R234W		.											.	.	.	0			c.C700T						.						84	85	84					1																	1326205		2203	4296	6499	SO:0001583	missense	81669	exon6			GGAACCGCACGAA	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.700C>T	1.37:g.1326205G>A	ENSP00000383611:p.Arg234Trp	63	0		59	4	NM_030937	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736658	0.69304	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.23754	1.89;1.89	5.84	-0.504	0.11997	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.91818	3.245	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.69709	-0.5072	10	0.87932	D	0	.	15.491	0.75605	0.0:0.0:0.3986:0.6014	.	234	Q96S94	CCNL2_HUMAN	W	234;12	ENSP00000383611:R234W;ENSP00000386132:R12W	ENSP00000383611:R234W	R	-	1	2	CCNL2	1316068	0.884000	0.30299	0.997000	0.53966	0.598000	0.36846	0.850000	0.27737	-0.011000	0.14247	-0.182000	0.12963	CGG	.		0.547	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		A	1326205	G	A	1326205	3	1	17	1	0	0	0	0	1	0	0	0	2939	1086	38	1	886	1	CCNL2	1	1326205	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09		1326205	247924416	1	2248											
PLOD1	5351	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	12017915	12017915	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:12017915T>C	ENST00000196061.4	+	8	785	c.758T>C	c.(757-759)cTg>cCg	p.L253P	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.L300P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	253					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)	TTGAACTACCTGGGCAACTAC	0.632																																					p.L253P													.	PLOD1	75	0			c.T758C						.						134	126	129					1																	12017915		2203	4300	6503	SO:0001583	missense	5351	exon8			ACTACCTGGGCAA	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.758T>C	1.37:g.12017915T>C	ENSP00000196061:p.Leu253Pro	46	1		46	15	NM_000302	B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	CCDS142.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359060	0.82353	.	.	ENSG00000083444	ENST00000376369;ENST00000429000;ENST00000196061	T;T;T	0.72615	-0.67;1.12;-0.64	4.69	4.69	0.59074	.	0.077249	0.52532	D	0.000071	D	0.83741	0.5320	M	0.86268	2.805	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.64776	0.929;0.873	D	0.86798	0.1990	10	0.87932	D	0	.	13.4903	0.61390	0.0:0.0:0.0:1.0	.	300;253	B4DR87;Q02809	.;PLOD1_HUMAN	P	300;255;253	ENSP00000365548:L300P;ENSP00000405372:L255P;ENSP00000196061:L253P	ENSP00000196061:L253P	L	+	2	0	PLOD1	11940502	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.730000	0.84881	1.971000	0.57363	0.459000	0.35465	CTG	.		0.632	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		C	12017915	T	C	12017915	3	2	17	1	0	0	0	0	1	0	0	0	12140	1580	55	4	788	4	PLOD1	1	12017915	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	10691710	12017915	237232706	2	2249											
AK2	204	hgsc.bcm.edu	37	1	33476435	33476435	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:33476435C>A	ENST00000373449.2	-	7	736		c.e7-1		AK2_ENST00000467905.1_Splice_Site|AK2_ENST00000491241.1_Splice_Site|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Splice_Site	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGATACTAGGCTGAAATAGAG	0.507																																					.		.											.	.	.	0			c.695-1G>T						.						88	81	83					1																	33476435		2203	4300	6503	SO:0001630	splice_region_variant	204	exon8			ACTAGGCTGAAAT	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.695-1G>T	1.37:g.33476435C>A		74	0		70	8	NM_013411		Splice_Site	SNP	ENST00000373449.2	37	CCDS373.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798466	0.70567	.	.	ENSG00000004455	ENST00000373449;ENST00000548033	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8504	0.70292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AK2	33249022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.652000	0.54439	2.780000	0.95670	0.655000	0.94253	.	.		0.507	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625	Intron	A	33476435	C	A	33476435	5	1	17	1	0	0	0	0	0	0	1	0	440	811	28	3	8	3	AK2	1	33476435	Splice_Site	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	21458520	33476435	215774186	3	2250											
ZNF362	149076	bcgsc.ca	37	1	33741758	33741758	+	Silent	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:33741758C>A	ENST00000539719.1	+	3	266	c.96C>A	c.(94-96)ccC>ccA	p.P32P	ZNF362_ENST00000373428.5_Silent_p.P32P	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	32					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)				CCACCATGCCCAGCCAGGTAA	0.662																																					p.P32P	Pancreas(162;1431 2676 35353 38425)												.	ZNF362	31	0			c.C96A						.						79	74	75					1																	33741758		2203	4300	6503	SO:0001819	synonymous_variant	149076	exon3			CATGCCCAGCCAG		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.96C>A	1.37:g.33741758C>A		32	0		18	3	NM_152493	Q8WYU4	Silent	SNP	ENST00000539719.1	37	CCDS377.1																																																																																			.		0.662	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		A	33741758	C	A	33741758	2	1	17	1	0	0	0	0	0	0	0	1	17916	581	21	3		3	ZNF362	1	33741758	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	265323	33741758	215508863	4	2251											
CSMD2	114784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	34238182	34238182	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:34238182G>A	ENST00000338325.1	-	7	1070	c.658C>T	c.(658-660)Cca>Tca	p.P220S	CSMD2_ENST00000373381.4_Missense_Mutation_p.P612S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	572	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P572S(1)		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)				ACGCAGCCTGGCTTCTTAGCC	0.592																																					p.P572S		.											CSMD2,NS,carcinoma,0,1	CSMD2	0	1	Substitution - Missense(1)	endometrium(1)	c.C1714T						.						121	107	112					1																	34238182		2203	4300	6503	SO:0001583	missense	114784	exon13			AGCCTGGCTTCTT	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.658C>T	1.37:g.34238182G>A	ENSP00000340311:p.Pro220Ser	7	0		10	5	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		.	.	.	.	.	.	.	.	.	.	G	33	5.261285	0.95368	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.76968	-1.06;-1.06	5.92	5.92	0.95590	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	H	0.98629	4.285	0.80722	D	1	P;D	0.89917	0.944;1.0	D;D	0.85130	0.928;0.997	D	0.95232	0.8343	10	0.72032	D	0.01	.	18.8845	0.92370	0.0:0.0:1.0:0.0	.	572;612	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	612;220	ENSP00000362479:P612S;ENSP00000340311:P220S	ENSP00000241312:P572S	P	-	1	0	CSMD2	34010769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.841000	0.99482	2.813000	0.96785	0.561000	0.74099	CCA	.		0.592	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		A	34238182	G	A	34238182	3	1	17	1	0	0	0	0	1	0	0	0	3954	1203	42	3	8977	3	CSMD2	1	34238182	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	496424	34238182	215012439	5	2252											
PTCH2	8643	ucsc.edu;bcgsc.ca	37	1	45295102	45295102	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:45295102G>A	ENST00000372192.3	-	9	1317	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A396V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	396	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)					CACCACACGGGCAGCACTGAC	0.632									Basal Cell Nevus syndrome																												p.A396V													.	PTCH2	96	0			c.C1187T						.						109	111	110					1																	45295102		2203	4300	6503	SO:0001583	missense	8643	exon9	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	ACACGGGCAGCAC	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.1187C>T	1.37:g.45295102G>A	ENSP00000361266:p.Ala396Val	28	0		32	4	NM_001166292	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.479945	0.26598	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91351	-2.83;-2.83	4.54	2.5	0.30297	Sterol-sensing domain (1);	0.648557	0.14404	N	0.321710	T	0.61565	0.2357	N	0.00197	-1.87	0.28621	N	0.908193	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.61520	-0.7046	10	0.10902	T	0.67	-20.332	4.2965	0.10904	0.4633:0.0:0.5367:0.0	.	396;396	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	396	ENSP00000389703:A396V;ENSP00000361266:A396V	ENSP00000361266:A396V	A	-	2	0	PTCH2	45067689	1.000000	0.71417	0.546000	0.28166	0.994000	0.84299	4.933000	0.63484	1.139000	0.42245	0.561000	0.74099	GCC	.		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		A	45295102	G	A	45295102	3	1	17	1	0	0	0	0	1	0	0	0	12773	1203	42	3	2500	3	PTCH2	1	45295102	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	11056920	45295102	203955519	6	2253											
ST6GALNAC5	81849	hgsc.bcm.edu	37	1	77334298	77334298	+	Silent	SNP	G	G	A	rs554217920	byFrequency	TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	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	44	Poly-Gln.				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						agcagcagcagcaacagcagc	0.711													G|||	2	0.000399361	0	0	5008	,	,		11676	0.002		0	False		,,,				2504	0				p.Q44Q		.											ST6GALNAC5,rectum,carcinoma,0,1	ST6GALNAC5	0	0			c.G132A						.						12	12	12					1																	77334298		2054	3972	6026	SO:0001819	synonymous_variant	81849	exon2			GCAGCAGCAACAG		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.132G>A	1.37:g.77334298G>A		39	2		31	6	NM_030965	B1AK82	Silent	SNP	ENST00000477717.1	37	CCDS673.1																																																																																			.		0.711	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		A	77334298	G	A	77334298	2	1	17	1	0	0	0	0	0	0	0	1	15274	962	34	3		3	ST6GALNAC5	1	77334298	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	32039196	77334298	171916323	7	2254											
LCE1B	353132	hgsc.bcm.edu	37	1	152785258	152785258	+	Silent	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:152785258G>A	ENST00000360090.3	+	1	812	c.336G>A	c.(334-336)caG>caA	p.Q112Q		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	112	Gly-rich.				keratinization (GO:0031424)			p.Q112H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	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)			GGAGTGGCCAGCACTCTGGAG	0.612																																					p.Q112Q		.											LCE1B,NS,carcinoma,0,1	LCE1B	0	1	Substitution - Missense(1)	lung(1)	c.G336A						.						36	44	42					1																	152785258		2202	4298	6500	SO:0001819	synonymous_variant	353132	exon1			TGGCCAGCACTCT	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"Late cornified envelopes"	16611	protein-coding gene	gene with protein product		612604	"small proline rich-like (epidermal differentiation complex) 2A"	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.336G>A	1.37:g.152785258G>A		79	0		98	4	NM_178349	A4IF40	Silent	SNP	ENST00000360090.3	37	CCDS1027.1																																																																																			.		0.612	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		A	152785258	G	A	152785258	2	1	17	1	0	0	0	0	0	0	0	1	8688	962	34	3		3	LCE1B	1	152785258	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	75450960	152785258	96465363	8	2255											
IVL	3713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	152883128	152883128	+	Nonsense_Mutation	SNP	C	C	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:152883128C>G	ENST00000368764.3	+	2	919	c.855C>G	c.(853-855)taC>taG	p.Y285*	IVL_ENST00000392667.2_Nonsense_Mutation_p.Y139*			P07476	INVO_HUMAN	involucrin	285	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)			AGCTGAAGTACCTGGAACAGC	0.632																																					p.Y285X		.											IVL,NS,carcinoma,0,1	IVL	0	0			c.C855G						.						18	17	18					1																	152883128		2050	4008	6058	SO:0001587	stop_gained	3713	exon2			GAAGTACCTGGAA	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.855C>G	1.37:g.152883128C>G	ENSP00000357753:p.Tyr285*	61	0		65	19	NM_005547	Q5T7P4	Nonsense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	c	11.58	1.680819	0.29872	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	.	.	.	3.4	-6.8	0.01709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	5.1268	0.14888	0.0834:0.4886:0.1325:0.2955	.	.	.	.	X	285;139	.	ENSP00000357753:Y285X	Y	+	3	2	IVL	151149752	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.797000	0.00763	-3.674000	0.00123	-1.050000	0.02344	TAC	.		0.632	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		G	152883128	C	G	152883128	4	3	17	1	0	0	0	0	0	1	0	0	7956	518	18	5	857	5	IVL	1	152883128	Nonsense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	97870	152883128	96367493	9	2256											
NUP210L	91181	ucsc.edu	37	1	153967582	153967582	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:153967582C>T	ENST00000368559.3	-	38	5532	c.5461G>A	c.(5461-5463)Gtg>Atg	p.V1821M	U3_ENST00000516860.1_RNA|NUP210L_ENST00000368553.1_Missense_Mutation_p.V602M|NUP210L_ENST00000271854.3_Missense_Mutation_p.V1669M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1821					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATGCCAGCACTGCAAAGAGG	0.408																																					p.V1821M													.	NUP210L	181	0			c.G5461A						.						78	80	79					1																	153967582		1928	4137	6065	SO:0001583	missense	91181	exon38			CCAGCACTGCAAA	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5461G>A	1.37:g.153967582C>T	ENSP00000357547:p.Val1821Met	24	0		38	4	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432387	0.43224	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.28454	3.39;1.61;2.92	5.6	0.472	0.16758	.	0.444908	0.20918	N	0.083327	T	0.05777	0.0151	N	0.19112	0.55	0.09310	N	1	B;B	0.26120	0.007;0.142	B;B	0.24701	0.009;0.055	T	0.30446	-0.9978	10	0.49607	T	0.09	-39.9665	4.5977	0.12338	0.1419:0.5487:0.0:0.3094	.	1669;1821	E7EP56;Q5VU65	.;P210L_HUMAN	M	1821;602;1669	ENSP00000357547:V1821M;ENSP00000357541:V602M;ENSP00000271854:V1669M	ENSP00000271854:V1669M	V	-	1	0	NUP210L	152234206	0.004000	0.15560	0.000000	0.03702	0.942000	0.58702	0.131000	0.15870	-0.160000	0.11002	0.650000	0.86243	GTG	.		0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	153967582	C	T	153967582	3	4	17	1	0	0	0	0	1	0	0	0	10800	565	20	3	217	3	NUP210L	1	153967582	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	1084454	153967582	95283039	10	2257											
FAM129A	116496	hgsc.bcm.edu	37	1	184868427	184868427	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:184868427G>A	ENST00000367511.3	-	2	264	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	24					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						GTTTTTGATGGCAGCCTCAGT	0.408																																					p.A24V		.											.	.	.	0			c.C71T						.						95	93	94					1																	184868427		2203	4300	6503	SO:0001583	missense	116496	exon2			TTGATGGCAGCCT	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.71C>T	1.37:g.184868427G>A	ENSP00000356481:p.Ala24Val	61	0		95	4	NM_052966	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	3.020	-0.202080	0.06219	.	.	ENSG00000135842	ENST00000367511	T	0.08896	3.04	5.61	2.75	0.32379	.	0.488214	0.23706	N	0.045364	T	0.03871	0.0109	N	0.10874	0.06	0.09310	N	0.999999	B	0.16603	0.018	B	0.08055	0.003	T	0.41980	-0.9478	10	0.25751	T	0.34	-0.5365	6.3272	0.21251	0.3545:0.0:0.6455:0.0	.	24	Q9BZQ8	NIBAN_HUMAN	V	24	ENSP00000356481:A24V	ENSP00000356481:A24V	A	-	2	0	FAM129A	183135050	0.556000	0.26538	0.541000	0.28102	0.996000	0.88848	0.731000	0.26058	0.739000	0.32628	0.655000	0.94253	GCC	.		0.408	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			A	184868427	G	A	184868427	3	1	17	1	0	0	0	0	1	0	0	0	5455	1203	42	3	2767	3	FAM129A	1	184868427	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	30900845	184868427	64382194	11	2258											
HMCN1	83872	hgsc.bcm.edu;bcgsc.ca	37	1	186088384	186088384	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:186088384G>T	ENST00000271588.4	+	78	12139	c.11910G>T	c.(11908-11910)agG>agT	p.R3970S	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3970S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3970	Ig-like C2-type 38.				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						GTGTCGCTAGGAATGCGGCTG	0.403																																					p.R3970S		.											.	.	.	0			c.G11910T						.						121	114	117					1																	186088384		2203	4300	6503	SO:0001583	missense	83872	exon78			CGCTAGGAATGCG	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.11910G>T	1.37:g.186088384G>T	ENSP00000271588:p.Arg3970Ser	61	0		78	4	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365894	0.61513	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65732	-0.17;-0.17	5.59	3.7	0.42460	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207947	0.50627	D	0.000120	T	0.53769	0.1817	N	0.12471	0.22	0.35577	D	0.805973	D	0.65815	0.995	D	0.77004	0.989	T	0.57516	-0.7798	10	0.08381	T	0.77	.	5.7627	0.18209	0.0703:0.251:0.5474:0.1313	.	3970	Q96RW7	HMCN1_HUMAN	S	3970	ENSP00000271588:R3970S;ENSP00000356462:R3970S	ENSP00000271588:R3970S	R	+	3	2	HMCN1	184355007	0.992000	0.36948	0.995000	0.50966	0.850000	0.48378	0.354000	0.20146	0.706000	0.31912	0.585000	0.79938	AGG	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186088384	G	T	186088384	3	4	17	1	0	0	0	0	1	0	0	0	7247	1165	41	3	12220	3	HMCN1	1	186088384	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1219957	186088384	63162237	12	2259											
ANGEL2	90806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	213178743	213178743	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:213178743T>C	ENST00000366962.3	-	5	920	c.766A>G	c.(766-768)Att>Gtt	p.I256V	ANGEL2_ENST00000360506.2_Missense_Mutation_p.I87V|ANGEL2_ENST00000544555.1_Missense_Mutation_p.I87V|ANGEL2_ENST00000535388.1_Missense_Mutation_p.I87V|ANGEL2_ENST00000540642.1_Missense_Mutation_p.I130V	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	256										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTGAAGCAAATAGCACAGCCA	0.368																																					p.I256V		.											.	.	.	0			c.A766G						.						112	120	117					1																	213178743		2202	4299	6501	SO:0001583	missense	90806	exon5			AGCAAATAGCACA	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.766A>G	1.37:g.213178743T>C	ENSP00000355929:p.Ile256Val	41	0		63	6	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	7.733	0.699625	0.15106	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95980	-3.87;-3.6;-3.6;-3.87;-3.6	5.31	4.05	0.47172	Endonuclease/exonuclease/phosphatase (2);	0.158146	0.56097	N	0.000027	D	0.91486	0.7312	L	0.45422	1.42	0.50632	D	0.999886	B;B	0.12013	0.0;0.005	B;B	0.20955	0.002;0.032	D	0.85276	0.1059	10	0.14656	T	0.56	-11.8863	10.9869	0.47526	0.0:0.0794:0.0:0.9206	.	130;256	F5H476;Q5VTE6	.;ANGE2_HUMAN	V	256;87;87;130;87	ENSP00000355929:I256V;ENSP00000353696:I87V;ENSP00000443193:I87V;ENSP00000446124:I130V;ENSP00000438141:I87V	ENSP00000353696:I87V	I	-	1	0	ANGEL2	211245366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.872000	0.39549	0.838000	0.34948	0.454000	0.30748	ATT	.		0.368	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		C	213178743	T	C	213178743	3	2	17	1	0	0	0	0	1	0	0	0	609	1406	49	4	888	4	ANGEL2	1	213178743	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	27090359	213178743	36071878	13	2260											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	228444441	228444441	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:228444441G>A	ENST00000422127.1	+	15	4443	c.4399G>A	c.(4399-4401)Gct>Act	p.A1467T	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1559T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1467T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A31T|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1467	Ig-like 15.				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)				CTGCGAGGTGGCTCAGGCCCA	0.647																																					p.A1559T		.											.	.	.	0			c.G4675A						.						49	50	50					1																	228444441		2071	4194	6265	SO:0001583	missense	84033	exon16			GAGGTGGCTCAGG	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.4399G>A	1.37:g.228444441G>A	ENSP00000409493:p.Ala1467Thr	31	0		36	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	.	.	.	.	.	.	.	.	.	.	.	19.04	3.749857	0.69533	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.65916	-0.18;-0.18;3.71	4.7	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.078090	0.49916	D	0.000139	T	0.69815	0.3153	L	0.45422	1.42	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.69307	0.963;0.92	T	0.69483	-0.5133	10	0.42905	T	0.14	.	12.6934	0.56988	0.0:0.0:0.835:0.165	.	1467;1467	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1467;1467;31	ENSP00000284548:A1467T;ENSP00000409493:A1467T;ENSP00000352613:A31T	ENSP00000284548:A1467T	A	+	1	0	OBSCN	226511064	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	2.108000	0.41854	2.157000	0.67596	0.491000	0.48974	GCT	.		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228444441	G	A	228444441	3	1	17	1	0	0	0	0	1	0	0	0	10851	1203	42	3	4453	3	OBSCN	1	228444441	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	15265698	228444441	20806180	14	2261											
SPHAR	10638	hgsc.bcm.edu	37	1	229440935	229440935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:229440935C>A	ENST00000366688.3	+	1	807	c.54C>A	c.(52-54)tgC>tgA	p.C18*	RAB4A_ENST00000366690.4_3'UTR	NM_006542.3	NP_006533.1	Q15513	SPHAR_HUMAN	S-phase response (cyclin related)	18					DNA replication (GO:0006260)							Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TTGAGTTTTGCTTTTTTTATG	0.289																																					p.C18X		.											.	.	.	0			c.C54A						.						71	71	71					1																	229440935		2199	4292	6491	SO:0001587	stop_gained	10638	exon1			GTTTTGCTTTTTT	BC070287	CCDS1576.1	1q42.13	2009-03-11			ENSG00000213029	ENSG00000213029			16957	protein-coding gene	gene with protein product						7799938	Standard	NM_006542		Approved		uc001htk.4	Q15513	OTTHUMG00000058947	ENST00000366688.3:c.54C>A	1.37:g.229440935C>A	ENSP00000355649:p.Cys18*	33	0		67	3	NM_006542	Q4EW09|Q6NSB9	Nonsense_Mutation	SNP	ENST00000366688.3	37	CCDS1576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174544	0.94807	.	.	ENSG00000213029	ENST00000366688	.	.	.	4.27	-3.63	0.04529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9786	0.19395	0.0:0.271:0.1494:0.5796	.	.	.	.	X	18	.	ENSP00000355649:C18X	C	+	3	2	SPHAR	227507558	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.969000	0.03813	-1.054000	0.03214	-0.345000	0.07892	TGC	.		0.289	SPHAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130347.1	NM_006542		A	229440935	C	A	229440935	4	1	17	1	0	0	0	0	0	1	0	0	15092	805	28	3	56	3	SPHAR	1	229440935	Nonsense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	996494	229440935	19809686	15	2262											
KIAA1804	84451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	233490614	233490614	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:233490614T>A	ENST00000366624.3	+	4	1429	c.1168T>A	c.(1168-1170)Tcg>Acg	p.S390T	MLK4_ENST00000366623.3_Missense_Mutation_p.S390T	NM_032435.2	NP_115811.2																					TATTCGTCCATCGTTTGCCTT	0.383																																					p.S390T		.											.	.	.	0			c.T1168A						.						147	141	143					1																	233490614		2203	4300	6503	SO:0001583	missense	0	exon4			CGTCCATCGTTTG																												ENST00000366624.3:c.1168T>A	1.37:g.233490614T>A	ENSP00000355583:p.Ser390Thr	47	0		61	39	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	9.503	1.103766	0.20632	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.88664	-2.41;-2.41	5.22	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.85452	0.5700	L	0.36672	1.1	0.80722	D	1	B;B	0.33379	0.41;0.04	B;B	0.41135	0.348;0.061	D	0.83983	0.0333	10	0.44086	T	0.13	.	9.7134	0.40258	0.0:0.0767:0.0:0.9233	.	390;390	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	T	390	ENSP00000355582:S390T;ENSP00000355583:S390T	ENSP00000355582:S390T	S	+	1	0	RP5-862P8.2	231557237	0.996000	0.38824	0.296000	0.24974	0.131000	0.20780	3.211000	0.51137	2.193000	0.70182	0.533000	0.62120	TCG	.		0.383	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			A	233490614	T	A	233490614	3	1	17	1	0	0	0	0	1	0	0	0	8286	1435	50	5	1182	5	KIAA1804	1	233490614	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	4049679	233490614	15760007	16	2263											
FMN2	56776	broad.mit.edu	37	1	240255531	240255531	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr1:240255531G>A	ENST00000319653.9	+	1	352	c.122G>A	c.(121-123)gGc>gAc	p.G41D		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	41					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)			GGGAGCGGGGGCAAGAAGGCG	0.687																																					p.G41D													.	FMN2	451	0			c.G122A						.						5	6	6					1																	240255531		2070	4069	6139	SO:0001583	missense	56776	exon1			GCGGGGGCAAGAA	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.122G>A	1.37:g.240255531G>A	ENSP00000318884:p.Gly41Asp	18	0		27	3	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	7.435	0.639505	0.14386	.	.	ENSG00000155816	ENST00000319653	T	0.27104	1.69	3.66	1.64	0.23874	.	0.342497	0.24189	N	0.040729	T	0.23766	0.0575	L	0.44542	1.39	0.20563	N	0.999887	P	0.50066	0.931	P	0.44732	0.459	T	0.09640	-1.0665	10	0.38643	T	0.18	.	11.8308	0.52295	0.0:0.0:0.6816:0.3184	.	41	Q9NZ56	FMN2_HUMAN	D	41	ENSP00000318884:G41D	ENSP00000318884:G41D	G	+	2	0	FMN2	238322154	0.977000	0.34250	0.943000	0.38184	0.436000	0.31835	1.362000	0.34148	0.291000	0.22468	0.313000	0.20887	GGC	.		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240255531	G	A	240255531	3	1	17	1	0	0	0	0	1	0	0	0	5972	1203	42	3	124	3	FMN2	1	240255531	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	6764917	240255531	8995090	17	2264											
LPIN1	23175	bcgsc.ca	37	2	11913797	11913797	+	Silent	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:11913797C>T	ENST00000256720.2	+	5	741	c.648C>T	c.(646-648)aaC>aaT	p.N216N	LPIN1_ENST00000396099.1_Silent_p.N222N|LPIN1_ENST00000449576.2_Silent_p.N265N|LPIN1_ENST00000396098.1_Silent_p.N222N|LPIN1_ENST00000425416.2_Silent_p.N222N	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	216					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)		CTGAGGAAAACCTCTCCCTGG	0.433																																					p.N265N													.	LPIN1	99	0			c.C795T						.						120	123	122					2																	11913797		2203	4300	6503	SO:0001819	synonymous_variant	23175	exon6			GGAAAACCTCTCC	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.648C>T	2.37:g.11913797C>T		46	0		53	4	NM_001261428	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																			.		0.433	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		T	11913797	C	T	11913797	2	4	17	1	0	0	0	0	0	0	0	1	8953	506	18	3		3	LPIN1	2	11913797	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		11913797	231285576	18	2265											
CCDC142	84865	hgsc.bcm.edu;bcgsc.ca	37	2	74701921	74701921	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:74701921G>T	ENST00000393965.3	-	9	2401	c.2005C>A	c.(2005-2007)Cag>Aag	p.Q669K	MRPL53_ENST00000409710.1_5'Flank|MRPL53_ENST00000258105.7_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.Q662K	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	669										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGGACCTCCTGACAAGCACCT	0.557																																					p.Q662K		.											.	.	.	0			c.C1984A						.						37	40	39					2																	74701921		2203	4300	6503	SO:0001583	missense	84865	exon9			CCTCCTGACAAGC	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.2005C>A	2.37:g.74701921G>T	ENSP00000377537:p.Gln669Lys	35	0		56	4	NM_032779	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087374	0.01873	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.40476	1.03;1.03	4.88	-2.78	0.05859	.	0.808617	0.10962	N	0.614931	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23940	-1.0174	10	0.11485	T	0.65	6.7656	1.0446	0.01567	0.1408:0.2158:0.3132:0.3303	.	669;662	Q17RM4;Q17RM4-2	CC142_HUMAN;.	K	669;662	ENSP00000377537:Q669K;ENSP00000290418:Q662K	ENSP00000290418:Q662K	Q	-	1	0	CCDC142	74555429	0.010000	0.17322	0.002000	0.10522	0.242000	0.25591	-0.240000	0.08952	-0.663000	0.05331	-1.108000	0.02087	CAG	.		0.557	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		T	74701921	G	T	74701921	3	4	17	1	0	0	0	0	1	0	0	0	2783	1299	45	3	251	3	CCDC142	2	74701921	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	62788124	74701921	168497452	19	2266											
SEMA4F	10505	hgsc.bcm.edu	37	2	74900824	74900824	+	Missense_Mutation	SNP	G	G	A	rs375402877		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:74900824G>A	ENST00000357877.2	+	7	840	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	231	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.V231L(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGTCGCAGCCGTGGCCTTGAG	0.567																																					p.V231M		.											SEMA4F,NS,carcinoma,0,1	SEMA4F	0	1	Substitution - Missense(1)	lung(1)	c.G691A						.	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	66	65	66		691	-3.2	0.1	2		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA4F	NM_004263.3	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	231/771	74900824	2,13004	2203	4300	6503	SO:0001583	missense	10505	exon7			GCAGCCGTGGCCT	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.691G>A	2.37:g.74900824G>A	ENSP00000350547:p.Val231Met	41	0		59	3	NM_004263	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656169	0.29425	2.27E-4	1.16E-4	ENSG00000135622	ENST00000357877	T	0.11385	2.78	4.79	-3.21	0.05140	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.621093	0.15848	N	0.241645	T	0.07007	0.0178	L	0.38175	1.15	0.09310	N	1	B	0.21381	0.055	B	0.22880	0.042	T	0.26985	-1.0087	10	0.33940	T	0.23	.	6.2394	0.20783	0.5226:0.1347:0.3427:0.0	.	231	O95754	SEM4F_HUMAN	M	231	ENSP00000350547:V231M	ENSP00000350547:V231M	V	+	1	0	SEMA4F	74754332	0.004000	0.15560	0.127000	0.21898	0.975000	0.68041	-0.614000	0.05604	-1.049000	0.03234	0.462000	0.41574	GTG	.		0.567	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		A	74900824	G	A	74900824	3	1	17	1	0	0	0	0	1	0	0	0	14080	1145	40	1	717	1	SEMA4F	2	74900824	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	198903	74900824	168298549	20	2267											
LRRTM4	80059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	77745440	77745440	+	Intron	SNP	A	A	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:77745440A>G	ENST00000409093.1	-	3	1888				LRRTM4_ENST00000409088.3_Nonstop_Mutation_p.*519R|LRRTM4_ENST00000409911.1_Intron|LRRTM4_ENST00000409884.1_Intron|LRRTM4_ENST00000409282.1_Nonstop_Mutation_p.*520R			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4						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)		ATCATGGTTCATACCTCACAT	0.453																																					p.X519R		.											.	.	.	0			c.T1555C						.						64	63	63					2																	77745440		1882	4114	5996	SO:0001627	intron_variant	80059	exon3			TGGTTCATACCTC	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.1551+3T>C	2.37:g.77745440A>G		56	0		76	13	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858268	0.32791	.	.	ENSG00000176204	ENST00000409088;ENST00000409282	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4863	0.67619	1.0:0.0:0.0:0.0	.	.	.	.	R	519;520	.	.	X	-	1	0	LRRTM4	77598948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.567000	0.82357	2.095000	0.63458	0.450000	0.29827	TGA	.		0.453	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		G	77745440	A	G	77745440	1	3	17	0	1	0	0	0	0	0	0	0	9077	230	8	4		4	LRRTM4	2	77745440	Intron	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09	2844616	77745440	165453933	21	2268											
CTNNA2	1496	hgsc.bcm.edu	37	2	80874884	80874884	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:80874884G>T	ENST00000402739.4	+	18	2754	c.2749G>T	c.(2749-2751)Gtg>Ttg	p.V917L	CTNNA2_ENST00000541047.1_Missense_Mutation_p.V869L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V548L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V869L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V903L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V824L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V869L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	917					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.V869L(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						GAAGCCCCTTGTGAAGAGAGA	0.463																																					p.V869L		.											CTNNA2_ENST00000466387,NS,carcinoma,0,1	CTNNA2_ENST00000466387	0	1	Substitution - Missense(1)	endometrium(1)	c.G2605T						.						150	150	150					2																	80874884		1870	4115	5985	SO:0001583	missense	1496	exon18			CCCCTTGTGAAGA		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.2749G>T	2.37:g.80874884G>T	ENSP00000384638:p.Val917Leu	40	0		49	2	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.975047	0.92919	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.54675	0.94;0.94;0.9;0.56;0.94;0.61;2.12	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	T	0.66167	0.2762	M	0.69823	2.125	0.80722	D	1	D;D;P;P	0.56968	0.964;0.978;0.866;0.92	P;P;P;P	0.52189	0.692;0.53;0.461;0.615	T	0.64266	-0.6448	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	501;917;824;869	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	869;869;903;917;869;824;548	ENSP00000418191:V869L;ENSP00000419295:V869L;ENSP00000355398:V903L;ENSP00000384638:V917L;ENSP00000444675:V869L;ENSP00000441705:V824L;ENSP00000341500:V548L	.	V	+	1	0	CTNNA2	80728395	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GTG	.		0.463	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		T	80874884	G	T	80874884	3	4	17	1	0	0	0	0	1	0	0	0	4022	1377	48	3	2463	3	CTNNA2	2	80874884	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	3129444	80874884	162324489	22	2269											
EIF5B	9669	hgsc.bcm.edu	37	2	100007024	100007024	+	Silent	SNP	G	G	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:100007024G>C	ENST00000289371.6	+	17	2806	c.2604G>C	c.(2602-2604)ggG>ggC	p.G868G		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	868					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						CTCTCCCGGGGATGGGCACCA	0.403																																					p.G868G	Colon(162;2388 2567 2705 3444)	.											EIF5B,NS,carcinoma,0,1	EIF5B	0	0			c.G2604C						.						159	144	149					2																	100007024		1907	4125	6032	SO:0001819	synonymous_variant	9669	exon17			CCCGGGGATGGGC	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.2604G>C	2.37:g.100007024G>C		39	0		43	2	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	CCDS42721.1																																																																																			.		0.403	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		C	100007024	G	C	100007024	2	2	17	1	0	0	0	0	0	0	0	1	5060	1161	41	5		5	EIF5B	2	100007024	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	19132140	100007024	143192349	23	2270											
PAX8	7849	bcgsc.ca	37	2	113993051	113993051	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:113993051C>T	ENST00000429538.3	-	9	1201	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.A310T|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000431844.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.A310T|AC016683.6_ENST00000456685.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	336					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						GACCCCGGAGCCGACTTGCTG	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis																														p.G336D	Ovarian(188;7 2067 9084 29802 29892)			Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	.	PAX8	42	0			c.G1007A						.						38	46	44					2																	113993051		1906	4130	6036	SO:0001583	missense	7849	exon9			CCGGAGCCGACTT	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.1007G>A	2.37:g.113993051C>T	ENSP00000395498:p.Gly336Asp	42	0		49	4	NM_003466	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.73|18.73	3.686566|3.686566	0.68157|0.68157	.|.	.|.	ENSG00000125618|ENSG00000125618	ENST00000348715;ENST00000263334|ENST00000429538	D;D|D	0.97303|0.95756	-4.33;-4.33|-3.8	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.254268	.|0.38897	.|N	.|0.001538	D|D	0.92753|0.92753	0.7696|0.7696	.|.	.|.	.|.	0.25543|0.25543	N|N	0.987169|0.987169	P|P	0.36535|0.37914	0.557|0.611	B|B	0.33620|0.37198	0.167|0.243	D|D	0.86986|0.86986	0.2107|0.2107	8|9	0.22706|0.35671	T|T	0.39|0.21	.|.	17.1975|17.1975	0.86897|0.86897	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	310|336	Q06710-3|Q06710	.|PAX8_HUMAN	T|D	310|336	ENSP00000314750:A310T;ENSP00000263334:A310T|ENSP00000395498:G336D	ENSP00000263334:A310T|ENSP00000395498:G336D	A|G	-|-	1|2	0|0	PAX8|PAX8	113709522|113709522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.394000|3.394000	0.52551|0.52551	2.655000|2.655000	0.90218|0.90218	0.655000|0.655000	0.94253|0.94253	GCT|GGC	.		0.612	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			T	113993051	C	T	113993051	3	4	17	1	0	0	0	0	1	0	0	0	11524	739	26	3	361	3	PAX8	2	113993051	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	13986027	113993051	129206322	24	2271											
MARCO	8685	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	119739044	119739044	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:119739044C>A	ENST00000327097.4	+	9	961	c.826C>A	c.(826-828)Cag>Aag	p.Q276K	MARCO_ENST00000541757.1_Missense_Mutation_p.Q198K	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	276	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						TCCTGGAGCCCAGGGGAGTAA	0.522																																					p.Q276K	GBM(8;18 374 7467 11269 32796)	.											.	.	.	0			c.C826A						.						33	34	34					2																	119739044		2203	4300	6503	SO:0001583	missense	8685	exon9			GGAGCCCAGGGGA	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.826C>A	2.37:g.119739044C>A	ENSP00000318916:p.Gln276Lys	61	0		38	11	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391931	0.25118	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.83591	-1.74;-1.74	5.33	4.46	0.54185	.	0.909201	0.09429	N	0.803296	T	0.73505	0.3595	N	0.20986	0.625	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.60094	-0.7330	9	.	.	.	.	9.903	0.41359	0.0:0.9085:0.0:0.0915	.	276	Q9UEW3	MARCO_HUMAN	K	276;276;198	ENSP00000318916:Q276K;ENSP00000441769:Q198K	.	Q	+	1	0	MARCO	119455514	0.006000	0.16342	0.020000	0.16555	0.947000	0.59692	2.288000	0.43514	1.487000	0.48415	0.655000	0.94253	CAG	.		0.522	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		A	119739044	C	A	119739044	3	1	17	1	0	0	0	0	1	0	0	0	9349	595	21	3	860	3	MARCO	2	119739044	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	5745993	119739044	123460329	25	2272											
PRPF40A	55660	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	153514468	153514468	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:153514468C>A	ENST00000410080.1	-	25	3176	c.2635G>T	c.(2635-2637)Gac>Tac	p.D879Y		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	906					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						CTAGTTCTGTCTTTTTCACTT	0.353																																					p.D879Y													.	PRPF40A	149	0			c.G2635T						.						212	171	184					2																	153514468		1812	4063	5875	SO:0001583	missense	55660	exon25			TTCTGTCTTTTTC	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.2635G>T	2.37:g.153514468C>A	ENSP00000386458:p.Asp879Tyr	93	1		106	40	NM_017892	O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712540	0.68730	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252	T	0.36878	1.23	5.27	5.27	0.74061	.	0.151201	0.64402	D	0.000014	T	0.48822	0.1521	L	0.53249	1.67	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.54372	0.75;0.75	T	0.49457	-0.8938	10	0.72032	D	0.01	-9.0824	15.988	0.80176	0.0:1.0:0.0:0.0	.	906;879	O75400;E9PFS0	PR40A_HUMAN;.	Y	879;888;775	ENSP00000386458:D879Y	ENSP00000348770:D888Y	D	-	1	0	PRPF40A	153222714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.440000	0.66563	2.615000	0.88500	0.563000	0.77884	GAC	.		0.353	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		A	153514468	C	A	153514468	3	1	17	1	0	0	0	0	1	0	0	0	12613	913	32	3	165	3	PRPF40A	2	153514468	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	33775424	153514468	89684905	26	2273											
TANC1	85461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	160035180	160035180	+	Silent	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:160035180G>A	ENST00000263635.6	+	14	2253	c.2016G>A	c.(2014-2016)caG>caA	p.Q672Q	TANC1_ENST00000454300.1_Silent_p.Q566Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	672					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						ACAGCAGCCAGGACATCCTCA	0.562																																					p.Q672Q		.											.	.	.	0			c.G2016A						.						56	58	58					2																	160035180		2173	4259	6432	SO:0001819	synonymous_variant	85461	exon14			CAGCCAGGACATC	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.2016G>A	2.37:g.160035180G>A		36	0		34	9	NM_033394	C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	CCDS42766.1																																																																																			.		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			A	160035180	G	A	160035180	2	1	17	1	0	0	0	0	0	0	0	1	15591	991	35	3		3	TANC1	2	160035180	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	6520712	160035180	83164193	27	2274											
TTN	7273	hgsc.bcm.edu	37	2	179434990	179434990	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:179434990G>T	ENST00000591111.1	-	276	71170	c.70946C>A	c.(70945-70947)cCt>cAt	p.P23649H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16350H|TTN_ENST00000460472.2_Missense_Mutation_p.P16225H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16417H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P25290H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22722H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23649	Fibronectin type-III 71. {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)			AGATTCAAGAGGTTCACCAAC	0.423																																					p.P25290H		.											.	.	.	0			c.C75869A						.						99	90	93					2																	179434990		1948	4137	6085	SO:0001583	missense	7273	exon326			TCAAGAGGTTCAC	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.70946C>A	2.37:g.179434990G>T	ENSP00000465570:p.Pro23649His	61	0		40	4	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		.	.	.	.	.	.	.	.	.	.	G	14.28	2.488677	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81828	0.4905	H	0.94771	3.58	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;1.0	D	0.86003	0.1496	9	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	16225;16350;16417;23649	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	22722;16225;16417;16350;16223	ENSP00000343764:P22722H;ENSP00000434586:P16225H;ENSP00000340554:P16417H;ENSP00000352154:P16350H	ENSP00000340554:P16417H	P	-	2	0	TTN	179143236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.721000	0.74728	2.770000	0.95276	0.650000	0.86243	CCT	.		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179434990	G	T	179434990	3	4	17	1	0	0	0	0	1	0	0	0	16784	1000	35	3	32258	3	TTN	2	179434990	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	19399810	179434990	63764383	28	2275											
TTN	7273	hgsc.bcm.edu	37	2	179611465	179611465	+	Intron	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:179611465G>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S5221Y|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_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)			CTCTAGTAAAGATTTATTTCG	0.388																																					p.S5221Y		.											TTN_ENST00000360870,NS,carcinoma,0,1	TTN_ENST00000360870	0	0			c.C15662A						.						99	97	98					2																	179611465		2203	4299	6502	SO:0001627	intron_variant	7273	exon46			AGTAAAGATTTAT	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.10361-4817C>A	2.37:g.179611465G>T		49	0		50	4	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		.	.	.	.	.	.	.	.	.	.	G	11.63	1.697312	0.30142	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.70045	-0.45	5.95	5.95	0.96441	.	.	.	.	.	D	0.82305	0.5008	M	0.70787	2.145	0.80722	D	1	D	0.58970	0.984	D	0.72075	0.976	T	0.81957	-0.0695	9	0.62326	D	0.03	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	5221	Q8WZ42-6	.	Y	5221;502	ENSP00000354117:S5221Y	ENSP00000304714:S502Y	S	-	2	0	TTN	179319710	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.506000	0.60428	2.825000	0.97269	0.655000	0.94253	TCT	.		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179611465	G	T	179611465	1	4	17	0	1	0	0	0	0	0	0	0	16784	942	33	3		3	TTN	2	179611465	Intron	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	176475	179611465	63587908	29	2276											
FARSB	10056	hgsc.bcm.edu	37	2	223497945	223497945	+	Missense_Mutation	SNP	C	C	T	rs139596776		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:223497945C>T	ENST00000281828.6	-	7	951	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	FARSB_ENST00000536361.1_Missense_Mutation_p.V131I	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	230					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)	ATTGAAAGGACGACACCATTG	0.343																																					p.V230I		.											FARSB,caecum,carcinoma,0,1	FARSB	0	0			c.G688A						.	C	ILE/VAL	0,4406		0,0,2203	123	121	121		688	3.3	0.5	2	dbSNP_134	121	3,8595	3.0+/-9.4	0,3,4296	yes	missense	FARSB	NM_005687.3	29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	benign	230/590	223497945	3,13001	2203	4299	6502	SO:0001583	missense	10056	exon7			AAAGGACGACACC	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.688G>A	2.37:g.223497945C>T	ENSP00000281828:p.Val230Ile	41	0		55	3	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577343	0.45902	0.0	3.49E-4	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.28666	1.6;1.6	5.29	3.29	0.37713	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.239136	0.42548	N	0.000690	T	0.26195	0.0639	M	0.67953	2.075	0.50171	D	0.999851	P;B	0.36974	0.576;0.06	B;B	0.32211	0.142;0.045	T	0.03576	-1.1023	10	0.41790	T	0.15	-6.6224	6.3995	0.21630	0.0:0.6778:0.1427:0.1795	.	230;230	A8K666;Q9NSD9	.;SYFB_HUMAN	I	230;131	ENSP00000281828:V230I;ENSP00000442950:V131I	ENSP00000281828:V230I	V	-	1	0	FARSB	223206189	0.902000	0.30710	0.492000	0.27490	0.978000	0.69477	1.837000	0.39201	0.579000	0.29504	0.478000	0.44815	GTC	0.000		0.343	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		T	223497945	C	T	223497945	3	4	17	1	0	0	0	0	1	0	0	0	5702	536	19	1	1125	1	FARSB	2	223497945	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	43886480	223497945	19701428	30	2277											
PER2	8864	hgsc.bcm.edu	37	2	239166978	239166978	+	Silent	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr2:239166978G>T	ENST00000254657.3	-	16	2118	c.1839C>A	c.(1837-1839)gtC>gtA	p.V613V	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	613	CSNK1E binding domain. {ECO:0000250}.				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)		TTAGCGCTGGGACGTTTGCTG	0.532																																					p.V613V		.											.	.	.	0			c.C1839A						.						121	93	102					2																	239166978		2203	4300	6503	SO:0001819	synonymous_variant	8864	exon16			CGCTGGGACGTTT	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.1839C>A	2.37:g.239166978G>T		36	0		50	4	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	CCDS2528.1																																																																																			.		0.532	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		T	239166978	G	T	239166978	2	4	17	1	0	0	0	0	0	0	0	1	11769	1161	41	3		3	PER2	2	239166978	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	15669033	239166978	4032395	31	2278											
C3orf63	23272	hgsc.bcm.edu	37	3	56695042	56695042	+	Silent	SNP	A	A	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:56695042A>G	ENST00000493960.2	-	10	1174	c.1164T>C	c.(1162-1164)ccT>ccC	p.P388P	FAM208A_ENST00000431842.2_5'UTR|FAM208A_ENST00000355628.5_Silent_p.P388P	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	388							poly(A) RNA binding (GO:0044822)	p.P388P(1)		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						CTAATTTCTCAGGTCTGAAAG	0.313																																					p.P388P		.											FAM208A,NS,carcinoma,0,1	FAM208A	0	1	Substitution - coding silent(1)	lung(1)	c.T1164C						.						70	69	69					3																	56695042		2202	4294	6496	SO:0001819	synonymous_variant	23272	exon10			TTTCTCAGGTCTG	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.1164T>C	3.37:g.56695042A>G		16	0		38	2	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	CCDS46853.1																																																																																			.		0.313	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		G	56695042	A	G	56695042	2	3	17	1	0	0	0	0	0	0	0	1	2246	175	7	4		4	C3orf63	3	56695042	Silent	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09		56695042	141327388	32	2279											
HTR1F	3355	ucsc.edu;bcgsc.ca	37	3	88040342	88040342	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:88040342G>T	ENST00000319595.4	+	1	497	c.443G>T	c.(442-444)tGg>tTg	p.W148L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	148					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)	ACAATAGTTTGGATTATATCT	0.423																																					p.W148L													.	HTR1F	66	0			c.G443T						.						70	66	67					3																	88040342		2203	4300	6503	SO:0001583	missense	3355	exon2			TAGTTTGGATTAT	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.443G>T	3.37:g.88040342G>T	ENSP00000322924:p.Trp148Leu	27	0		22	4	NM_000866		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802626	0.70682	.	.	ENSG00000179097	ENST00000319595	D	0.88741	-2.42	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96549	0.8874	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	15.8163	0.78604	0.0:0.0:1.0:0.0	.	148	P30939	5HT1F_HUMAN	L	148	ENSP00000322924:W148L	ENSP00000322924:W148L	W	+	2	0	HTR1F	88123032	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.823000	0.99369	2.340000	0.79590	0.305000	0.20034	TGG	.		0.423	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		T	88040342	G	T	88040342	3	4	17	1	0	0	0	0	1	0	0	0	7467	1357	47	3	445	3	HTR1F	3	88040342	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	31345300	88040342	109982088	33	2280											
CGGBP1	8545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	88104670	88104670	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:88104670C>T	ENST00000398392.2	-	1	1789	c.457G>A	c.(457-459)Gat>Aat	p.D153N	CGGBP1_ENST00000462901.1_Missense_Mutation_p.D153N|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000482016.1_Missense_Mutation_p.D153N|CGGBP1_ENST00000309534.6_Missense_Mutation_p.D153N			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	153					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|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)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TCATATCCATCAGGAAGATAT	0.448																																					p.D153N		.											.	.	.	0			c.G457A						.						132	124	127					3																	88104670		1946	4156	6102	SO:0001583	missense	8545	exon4			ATCCATCAGGAAG	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.457G>A	3.37:g.88104670C>T	ENSP00000381429:p.Asp153Asn	47	0		60	25	NM_001195308	D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805776	0.50421	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901	.	.	.	5.7	5.7	0.88788	.	0.000000	0.40385	U	0.001117	T	0.60235	0.2253	N	0.19112	0.55	0.43300	D	0.995297	D	0.60575	0.988	P	0.62885	0.908	T	0.55685	-0.8102	9	0.24483	T	0.36	-20.2881	17.0533	0.86525	0.0:1.0:0.0:0.0	.	153	Q9UFW8	CGBP1_HUMAN	N	153	.	ENSP00000381428:D153N	D	-	1	0	CGGBP1	88187360	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.914000	0.63348	2.711000	0.92665	0.650000	0.86243	GAT	.		0.448	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		T	88104670	C	T	88104670	3	4	17	1	0	0	0	0	1	0	0	0	3309	826	29	3	50	3	CGGBP1	3	88104670	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	64328	88104670	109917760	34	2281											
CGGBP1	8545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	88104763	88104763	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:88104763C>T	ENST00000398392.2	-	1	1696	c.364G>A	c.(364-366)Gat>Aat	p.D122N	CGGBP1_ENST00000462901.1_Missense_Mutation_p.D122N|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000482016.1_Missense_Mutation_p.D122N|CGGBP1_ENST00000309534.6_Missense_Mutation_p.D122N			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	122					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|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)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GCTGGGTGATCAGCCTTCTCA	0.488																																					p.D122N		.											CGGBP1_ENST00000462901,bladder,carcinoma,0,2	CGGBP1_ENST00000462901	0	0			c.G364A						.						114	114	114					3																	88104763		2008	4178	6186	SO:0001583	missense	8545	exon4			GGTGATCAGCCTT	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.364G>A	3.37:g.88104763C>T	ENSP00000381429:p.Asp122Asn	39	0		83	49	NM_001195308	D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341051	0.81911	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901	.	.	.	5.86	5.86	0.93980	.	0.000000	0.40064	U	0.001181	T	0.65004	0.2650	L	0.29908	0.895	0.43517	D	0.995786	D	0.60575	0.988	P	0.62885	0.908	T	0.65290	-0.6204	9	0.54805	T	0.06	-21.6335	17.392	0.87434	0.0:1.0:0.0:0.0	.	122	Q9UFW8	CGBP1_HUMAN	N	122	.	ENSP00000381428:D122N	D	-	1	0	CGGBP1	88187453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.914000	0.63348	2.787000	0.95880	0.650000	0.86243	GAT	.		0.488	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		T	88104763	C	T	88104763	3	4	17	1	0	0	0	0	1	0	0	0	3309	826	29	3	143	3	CGGBP1	3	88104763	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	93	88104763	109917667	35	2282											
FILIP1L	11259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	99568867	99568867	+	Silent	SNP	G	G	C	rs558970547		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:99568867G>C	ENST00000354552.3	-	5	2123	c.1653C>G	c.(1651-1653)acC>acG	p.T551T	FILIP1L_ENST00000487087.1_Silent_p.T127T|FILIP1L_ENST00000471562.1_Silent_p.T311T|FILIP1L_ENST00000331335.5_Silent_p.T551T|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Silent_p.T311T|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	551						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTTCTACATCGGTTTTGGACT	0.383																																					p.T551T		.											FILIP1L_ENST00000354552,NS,carcinoma,0,2	FILIP1L_ENST00000354552	0	0			c.C1653G						.						104	92	95					3																	99568867		1859	4095	5954	SO:0001819	synonymous_variant	11259	exon5			TACATCGGTTTTG		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1653C>G	3.37:g.99568867G>C		17	0		33	12	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	CCDS43117.1																																																																																			.		0.383	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		C	99568867	G	C	99568867	2	2	17	1	0	0	0	0	0	0	0	1	5917	1103	39	5		5	FILIP1L	3	99568867	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	11464104	99568867	98453563	36	2283											
SEMA5B	54437	hgsc.bcm.edu	37	3	122631064	122631064	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:122631064C>T	ENST00000357599.3	-	19	3237	c.2851G>A	c.(2851-2853)Ggg>Agg	p.G951R	SEMA5B_ENST00000195173.4_Missense_Mutation_p.G950R|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G1005R	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	951	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		GTGTGCAGCCCGAGACAGATG	0.637																																					p.G1005R		.											SEMA5B_ENST00000451055,right_upper_lobe,carcinoma,0,2	SEMA5B_ENST00000451055	0	0			c.G3013A						.						60	50	53					3																	122631064		2203	4300	6503	SO:0001583	missense	54437	exon19			GCAGCCCGAGACA	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.2851G>A	3.37:g.122631064C>T	ENSP00000350215:p.Gly951Arg	7	1		7	5	NM_001256347	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785021	0.90282	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.87111	0.2185	10	0.87932	D	0	.	16.4825	0.84161	0.0:1.0:0.0:0.0	.	857;951	D3YTI7;Q9P283	.;SEM5B_HUMAN	R	951;950;857;1005;951	ENSP00000350215:G951R;ENSP00000195173:G950R;ENSP00000389588:G1005R;ENSP00000377208:G951R	ENSP00000195173:G950R	G	-	1	0	SEMA5B	124113754	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.638000	0.83328	2.365000	0.80145	0.511000	0.50034	GGG	.		0.637	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631064	C	T	122631064	3	4	17	1	0	0	0	0	1	0	0	0	14083	652	23	1	624	1	SEMA5B	3	122631064	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	23062197	122631064	75391366	37	2284											
HEG1	57493	broad.mit.edu	37	3	124738300	124738300	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:124738300G>T	ENST00000311127.4	-	5	1461	c.1394C>A	c.(1393-1395)aCa>aAa	p.T465K	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	465	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						ATCTGCAGATGTTGTGCTGTT	0.498																																					p.T465K													.	HEG1	109	0			c.C1394A						.						253	246	248					3																	124738300		2098	4236	6334	SO:0001583	missense	57493	exon5			GCAGATGTTGTGC	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.1394C>A	3.37:g.124738300G>T	ENSP00000311502:p.Thr465Lys	27	0		31	3	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057048	0.36277	.	.	ENSG00000173706	ENST00000311127	D	0.90261	-2.64	5.07	2.3	0.28687	.	.	.	.	.	D	0.88855	0.6550	L	0.56769	1.78	0.09310	N	1	P;P	0.43701	0.815;0.718	P;B	0.45681	0.49;0.296	T	0.80303	-0.1439	9	0.56958	D	0.05	.	6.6131	0.22763	0.288:0.0:0.712:0.0	.	465;465	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	K	465	ENSP00000311502:T465K	ENSP00000311502:T465K	T	-	2	0	HEG1	126220990	0.003000	0.15002	0.001000	0.08648	0.033000	0.12548	1.027000	0.30115	0.843000	0.35070	0.650000	0.86243	ACA	.		0.498	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		T	124738300	G	T	124738300	3	4	17	1	0	0	0	0	1	0	0	0	7071	1377	48	3	2803	3	HEG1	3	124738300	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	2107236	124738300	73284130	38	2285											
AADAC	13	hgsc.bcm.edu	37	3	151545576	151545576	+	Silent	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:151545576G>T	ENST00000232892.7	+	5	942	c.816G>T	c.(814-816)gtG>gtT	p.V272V	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	272					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)			ATGTACCTGTGGAATCAAGTC	0.368																																					p.V272V	Ovarian(30;839 841 2699 32801 46334)	.											AADAC,NS,carcinoma,0,1	AADAC	0	0			c.G816T						.						63	65	64					3																	151545576		2203	4299	6502	SO:0001819	synonymous_variant	13	exon5			ACCTGTGGAATCA	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.816G>T	3.37:g.151545576G>T		28	0		43	2	NM_001086	A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	CCDS33877.1																																																																																			.		0.368	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		T	151545576	G	T	151545576	2	4	17	1	0	0	0	0	0	0	0	1	10	1335	47	3		3	AADAC	3	151545576	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	26807276	151545576	46476854	39	2286											
GPR149	344758	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	154055683	154055683	+	Silent	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:154055683C>T	ENST00000389740.2	-	4	2100	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	667					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)			AGGCTGTTTCCCCTAGGTCAC	0.433																																					p.G667G													.	GPR149	134	0			c.G2001A						.						238	220	226					3																	154055683		1962	4157	6119	SO:0001819	synonymous_variant	344758	exon4			TGTTTCCCCTAGG	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.2001G>A	3.37:g.154055683C>T		64	0		82	17	NM_001038705		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																			.		0.433	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154055683	C	T	154055683	2	4	17	1	0	0	0	0	0	0	0	1	6680	610	22	3		3	GPR149	3	154055683	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	2510107	154055683	43966747	40	2287											
PSMD2	5708	hgsc.bcm.edu	37	3	184023829	184023846	+	Splice_Site	DEL	ATCTGTCCTGTAGGGAAG	ATCTGTCCTGTAGGGAAG	-			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	ATCTGTCCTGTAGGGAAG	ATCTGTCCTGTAGGGAAG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:184023829_184023846delATCTGTCCTGTAGGGAAG	ENST00000310118.4	+	14	2260_2265	c.1702_1707delATCTGTCCTGTAGGGAAG	c.(1702-1707)atctgtdel	p.IC568del	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site_p.IC438del|PSMD2_ENST00000435761.1_Splice_Site_p.IC409del	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	568					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)	GACCCCTTGAATCTGTCCTGTAGGGAAGGGTGAGGCCA	0.523											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.568_569del	Colon(24;313 636 6917 9932 15554)	.											.	.	.	0			c.1703_1706del						.																																			SO:0001630	splice_region_variant	5708	exon14			CCTTGAATCTGTC	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.1703-1ATCTGTCCTGTAGGGAAG>-	3.37:g.184023829_184023846delATCTGTCCTGTAGGGAAG		51	0	1988	45	6	NM_002808	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Frame_Shift_Del	DEL	ENST00000310118.4	37	CCDS3258.1																																																																																			.		0.523	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	In_Frame_Del	-	184023846	ATCTGTCCTGTAGGGAAG	-	184023829	8	5	17	1	0	1	0	1	0	0	1	0	12740	116	4	0		0	PSMD2	3	184023829	Splice_Site	DEL	ATCTGTCCTGTAGGGAAG	TCGA-W5-AA2X-01A-11D-A417-09	29968146	184023829	13998601	41	2288											
EIF4G1	1981	hgsc.bcm.edu	37	3	184039769	184039770	+	Missense_Mutation	DNP	GA	GA	AG	rs111659103|rs398102387		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	GA	GA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr3:184039769_184039770GA>AG	ENST00000346169.2	+	10	1668_1669	c.1397_1398GA>AG	c.(1396-1398)gGA>gAG	p.G466E	EIF4G1_ENST00000434061.2_Missense_Mutation_p.G270E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G302E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G302E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G270E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G466E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G379E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G473E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G379E|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G466E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	466	Poly-Glu.		Missing. {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)			gaggaagaaggagaagcaggag	0.55																																					p.G473E		.											.	.	.	0			c.A1419G						.																																			SO:0001583	missense	1981	exon11			AGAAGGAGAAGCA	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	Exception_encountered	3.37:g.184039769_184039770delinsAG	ENSP00000316879:p.Gly466Glu	39	0		60	7	NM_001194946	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	DNP	ENST00000346169.2	37	CCDS3259.1																																																																																			.		0.55	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		AG	184039770	GA	AG	184039769	3	1	17	1	0	0	0	0	1	0	0	0	5052	1174	41	3	1427	3	EIF4G1	3	184039769	Missense_Mutation	DNP	GA	TCGA-W5-AA2X-01A-11D-A417-09	15940	184039769	13982661	42	2289											
HTT	3064	hgsc.bcm.edu	37	4	3076659	3076659	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr4:3076659A>C	ENST00000355072.5	+	1	252	c.107A>C	c.(106-108)cAg>cCg	p.Q36P	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				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)		cagcagcagcagcaacagccg	0.706																																					p.Q36P		.											.	.	.	0			c.A107C						.						1	2	2					4																	3076659		405	1354	1759	SO:0001583	missense	3064	exon1			AGCAGCAGCAACA	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.107A>C	4.37:g.3076659A>C	ENSP00000347184:p.Gln36Pro	6	0		8	7	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	-	0.013	-1.614452	0.00835	.	.	ENSG00000197386	ENST00000355072	T	0.20738	2.05	0.538	-0.648	0.11464	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	8	0.30078	T	0.28	.	.	.	.	.	36	P42858	HD_HUMAN	P	36	ENSP00000347184:Q36P	ENSP00000347184:Q36P	Q	+	2	0	HTT	3046457	0.992000	0.36948	0.001000	0.08648	0.032000	0.12392	0.173000	0.16724	-0.308000	0.08792	0.138000	0.15974	CAG	.		0.706	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		C	3076659	A	C	3076659	3	2	17	1	0	0	0	0	1	0	0	0	7484	188	7	4	109	4	HTT	4	3076659	Missense_Mutation	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09		3076659	188077617	43	2290											
SEPSECS	51091	bcgsc.ca	37	4	25157778	25157778	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr4:25157778G>A	ENST00000382103.2	-	4	500	c.428C>T	c.(427-429)gCa>gTa	p.A143V	SEPSECS_ENST00000302922.3_Missense_Mutation_p.A64V	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	143					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				CATACCAGTTGCCATAGGAAC	0.408																																					p.A143V													.	SEPSECS	55	0			c.C428T						.						125	116	120					4																	25157778		2203	4300	6503	SO:0001583	missense	51091	exon4			CCAGTTGCCATAG	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.428C>T	4.37:g.25157778G>A	ENSP00000371535:p.Ala143Val	99	0		50	4	NM_016955	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556742	0.86231	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.85088	-1.94;-1.94	5.15	5.15	0.70609	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.93919	0.7204	10	0.66056	D	0.02	-25.9025	18.9796	0.92751	0.0:0.0:1.0:0.0	.	142;83;143	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	V	64;143	ENSP00000305956:A64V;ENSP00000371535:A143V	ENSP00000305956:A64V	A	-	2	0	SEPSECS	24766876	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	9.365000	0.97139	2.573000	0.86826	0.455000	0.32223	GCA	.		0.408	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		A	25157778	G	A	25157778	3	1	17	1	0	0	0	0	1	0	0	0	14103	1319	46	3	1109	3	SEPSECS	4	25157778	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	22081119	25157778	165996498	44	2291											
GK2	2712	hgsc.bcm.edu	37	4	80329033	80329033	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr4:80329033G>T	ENST00000358842.3	-	1	339	c.322C>A	c.(322-324)Ctc>Atc	p.L108I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	294					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)	p.L108I(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCATTGTAGAGAGGCTCTCCT	0.403																																					p.L108I		.											GK2,NS,carcinoma,0,1	GK2	0	1	Substitution - Missense(1)	endometrium(1)	c.C322A						.						167	161	163					4																	80329033		2203	4300	6503	SO:0001583	missense	2712	exon1			TGTAGAGAGGCTC	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.322C>A	4.37:g.80329033G>T	ENSP00000351706:p.Leu108Ile	79	0		49	2	NM_033214	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665803	0.29604	.	.	ENSG00000196475	ENST00000358842	T	0.60299	0.2	3.76	2.92	0.33932	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.51853	1.615	0.58432	D	0.999997	D	0.57899	0.981	D	0.65573	0.936	T	0.58267	-0.7666	10	0.11182	T	0.66	-1.7612	9.7298	0.40355	0.1051:0.0:0.8949:0.0	.	108	Q14410	GLPK2_HUMAN	I	108	ENSP00000351706:L108I	ENSP00000351706:L108I	L	-	1	0	GK2	80548057	1.000000	0.71417	0.950000	0.38849	0.056000	0.15407	5.768000	0.68858	1.183000	0.42943	0.585000	0.79938	CTC	.		0.403	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		T	80329033	G	T	80329033	3	4	17	1	0	0	0	0	1	0	0	0	6447	942	33	3	1343	3	GK2	4	80329033	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	55171255	80329033	110825243	45	2292											
HELQ	113510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	84337954	84337954	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr4:84337954G>A	ENST00000295488.3	-	17	3290	c.3128C>T	c.(3127-3129)cCt>cTt	p.P1043L	HELQ_ENST00000510985.1_Missense_Mutation_p.P976L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1043					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						GAGCACTTCAGGATTTGCATT	0.358								Other identified genes with known or suspected DNA repair function																													p.P1043L		.											.	.	.	0			c.C3128T						.						185	176	179					4																	84337954		2203	4300	6503	SO:0001583	missense	113510	exon17			ACTTCAGGATTTG	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.3128C>T	4.37:g.84337954G>A	ENSP00000295488:p.Pro1043Leu	64	0		42	30	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536156	0.85812	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.65549	0.12;-0.16	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.885	T	0.82242	-0.0554	10	0.59425	D	0.04	-8.5694	19.9273	0.97107	0.0:0.0:1.0:0.0	.	976;1043	E3W980;Q8TDG4	.;HELQ_HUMAN	L	1043;976	ENSP00000295488:P1043L;ENSP00000424539:P976L	ENSP00000295488:P1043L	P	-	2	0	HELQ	84556978	1.000000	0.71417	0.997000	0.53966	0.723000	0.41478	8.734000	0.91543	2.718000	0.92993	0.591000	0.81541	CCT	.		0.358	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		A	84337954	G	A	84337954	3	1	17	1	0	0	0	0	1	0	0	0	7074	1000	35	3	185	3	HELQ	4	84337954	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	4008921	84337954	106816322	46	2293											
FAT4	79633	hgsc.bcm.edu	37	4	126336935	126336935	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr4:126336935G>T	ENST00000394329.3	+	5	6830	c.6817G>T	c.(6817-6819)Ggg>Tgg	p.G2273W	FAT4_ENST00000335110.5_Missense_Mutation_p.G571W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2273	Cadherin 22. {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.G2273R(1)		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						TGAGAATTTAGGGACACTACC	0.358																																					p.G2273W		.											FAT4,NS,NS,0,1	FAT4	0	1	Substitution - Missense(1)	pancreas(1)	c.G6817T						.						46	46	46					4																	126336935		2203	4300	6503	SO:0001583	missense	79633	exon5			AATTTAGGGACAC	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.6817G>T	4.37:g.126336935G>T	ENSP00000377862:p.Gly2273Trp	36	0		34	2	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484192	0.26598	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01838	4.61;4.61	5.29	4.45	0.53987	Cadherin (3);Cadherin-like (1);	0.221369	0.22073	U	0.065005	T	0.06096	0.0158	N	0.14661	0.345	0.29618	N	0.846413	D;D	0.64830	0.986;0.994	D;D	0.69307	0.963;0.952	T	0.21449	-1.0245	10	0.72032	D	0.01	.	18.8963	0.92424	0.0:0.118:0.882:0.0	.	571;2273	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	W	2273;571	ENSP00000377862:G2273W;ENSP00000335169:G571W	ENSP00000335169:G571W	G	+	1	0	FAT4	126556385	0.998000	0.40836	0.127000	0.21898	0.265000	0.26407	3.630000	0.54273	0.627000	0.30340	-1.255000	0.01485	GGG	.		0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126336935	G	T	126336935	3	4	17	1	0	0	0	0	1	0	0	0	5714	1000	35	3	6835	3	FAT4	4	126336935	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	41998981	126336935	64817341	47	2294											
SMARCA5	8467	broad.mit.edu	37	4	144451680	144451680	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr4:144451680G>T	ENST00000283131.3	+	9	1620		c.e9+1			NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5						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)					GCTTCATATGGTAAGTATTTT	0.308																																					.													.	SMARCA5	73	0			c.1158+1G>T						.						99	110	106					4																	144451680		2203	4300	6503	SO:0001630	splice_region_variant	8467	exon9			CATATGGTAAGTA	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.1158+1G>T	4.37:g.144451680G>T		86	0		74	3	NM_003601		Splice_Site	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617542	0.87359	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0742	0.93154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA5	144671130	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.622000	0.98378	2.576000	0.86940	0.650000	0.86243	.	.		0.308	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		Intron	T	144451680	G	T	144451680	5	4	17	1	0	0	0	0	0	0	1	0	14816	1275	44	3	1193	3	SMARCA5	4	144451680	Splice_Site	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	18114745	144451680	46702596	48	2295											
OTUD4	54726	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	146065546	146065546	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr4:146065546G>T	ENST00000447906.2	-	15	1650	c.1463C>A	c.(1462-1464)cCa>cAa	p.P488Q	OTUD4_ENST00000454497.2_Missense_Mutation_p.P423Q|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	488					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)					CTGGACACATGGATTGCTACT	0.378																																					p.P423Q		.											.	.	.	0			c.C1268A						.						202	196	198					4																	146065546		2203	4300	6503	SO:0001583	missense	54726	exon15			ACACATGGATTGC		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.1463C>A	4.37:g.146065546G>T	ENSP00000395487:p.Pro488Gln	42	0		41	4	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	G	1.358	-0.589484	0.03799	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.30182	1.54;1.54	5.46	3.72	0.42706	.	0.546416	0.17720	N	0.164299	T	0.17450	0.0419	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.30973	0.302;0.201	B;B	0.29353	0.101;0.047	T	0.16482	-1.0401	10	0.29301	T	0.29	-0.8372	7.081	0.25231	0.0809:0.0:0.5539:0.3652	.	488;487	G3V0I6;Q01804	.;OTUD4_HUMAN	Q	423;488	ENSP00000409279:P423Q;ENSP00000395487:P488Q	ENSP00000395487:P488Q	P	-	2	0	OTUD4	146284996	0.588000	0.26799	0.352000	0.25734	0.526000	0.34562	1.374000	0.34283	0.653000	0.30826	-0.261000	0.10672	CCA	.		0.378	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		T	146065546	G	T	146065546	3	4	17	1	0	0	0	0	1	0	0	0	11353	1348	47	3	1909	3	OTUD4	4	146065546	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1613866	146065546	45088730	49	2296											
ADAMTS16	170690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	5239928	5239928	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:5239928T>A	ENST00000274181.7	+	16	2551	c.2413T>A	c.(2413-2415)Tgg>Agg	p.W805R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	805	Spacer.				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						GACCGTGGACTGGCCCGGCCG	0.517																																					p.W805R		.											.	.	.	0			c.T2413A						.						105	101	102					5																	5239928		1876	4106	5982	SO:0001583	missense	170690	exon16			GTGGACTGGCCCG	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.2413T>A	5.37:g.5239928T>A	ENSP00000274181:p.Trp805Arg	35	0		32	7	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.264906	0.80358	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50277	0.75	5.56	4.39	0.52855	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.74467	2.265	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64504	-0.6392	10	0.41790	T	0.15	.	10.6054	0.45392	0.0:0.0772:0.0:0.9228	.	805;805	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	805	ENSP00000274181:W805R	ENSP00000274181:W805R	W	+	1	0	ADAMTS16	5292928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.611000	0.67674	0.935000	0.37341	0.533000	0.62120	TGG	.		0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		A	5239928	T	A	5239928	3	1	17	1	0	0	0	0	1	0	0	0	261	1580	55	5	2475	5	ADAMTS16	5	5239928	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09		5239928	175675332	50	2297											
MTRR	4552	broad.mit.edu	37	5	7885967	7885967	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:7885967G>T	ENST00000264668.2	+	7	1168	c.1138G>T	c.(1138-1140)Gga>Tga	p.G380*	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Splice_Site_p.G353*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	380	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)	AAAGAAGAAAGGTAACAGCCC	0.498																																					p.G380X													.	MTRR	74	0			c.G1138T						.						82	82	82					5																	7885967		2203	4300	6503	SO:0001630	splice_region_variant	4552	exon7			AAGAAAGGTAACA	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.1138+1G>T	5.37:g.7885967G>T		43	0		62	4	NM_024010	O60471|Q32MA9|Q7Z4M8	Splice_Site	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	39	7.442387	0.98286	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.53	5.53	0.82687	.	0.554714	0.20710	N	0.087116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-26.1004	19.8371	0.96661	0.0:0.0:1.0:0.0	.	.	.	.	X	380;353	.	ENSP00000264668:G380X	G	+	1	0	MTRR	7938967	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	8.855000	0.92236	2.753000	0.94483	0.650000	0.86243	GGA	.		0.498	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1		Nonsense_Mutation	T	7885967	G	T	7885967	5	4	17	1	0	0	0	0	0	0	1	0	9999	1014	35	3	1164	3	MTRR	5	7885967	Splice_Site	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	2646039	7885967	173029293	51	2298											
CMBL	134147	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	10290721	10290724	+	Frame_Shift_Del	DEL	ATAT	ATAT	-			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	ATAT	ATAT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:10290721_10290724delATAT	ENST00000296658.3	-	2	571_574	c.151_154delATAT	c.(151-156)atatttfs	p.IF51fs	CMBL_ENST00000510532.1_5'UTR|Y_RNA_ENST00000516532.1_RNA	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	51						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TGCCAGCCAAATATATCTTGAATG	0.417																																					p.51_52del		.											.	.	.	0			c.152_155del						.																																			SO:0001589	frameshift_variant	134147	exon2			AGCCAAATATATC		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"carboxymethylenebutenolidase-like (Pseudomonas)"			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.151_154delATAT	5.37:g.10290721_10290724delATAT	ENSP00000296658:p.Ile51fs	37	0		60	16	NM_138809	D3DTC7|Q8TED6	Frame_Shift_Del	DEL	ENST00000296658.3	37	CCDS3878.1																																																																																			.		0.417	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		-	10290724	ATAT	-	10290721	7	5	17	1	0	1	0	1	0	0	0	0	3583	101	4	0	603	0	CMBL	5	10290721	Frame_Shift_Del	DEL	ATAT	TCGA-W5-AA2X-01A-11D-A417-09	2404754	10290721	170624539	52	2299											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	13865904	13865904	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:13865904T>A	ENST00000265104.4	-	27	4332	c.4228A>T	c.(4228-4230)Aat>Tat	p.N1410Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1410	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)					TGTAGAAGATTTAGTTGCTTC	0.333									Kartagener syndrome																												p.N1410Y		.											.	.	.	0			c.A4228T						.						51	54	53					5																	13865904		2203	4299	6502	SO:0001583	missense	1767	exon27	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GAAGATTTAGTTG	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.4228A>T	5.37:g.13865904T>A	ENSP00000265104:p.Asn1410Tyr	59	0		70	33	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020894	0.35606	.	.	ENSG00000039139	ENST00000265104	T	0.62364	0.03	5.88	3.48	0.39840	Dynein heavy chain, domain-2 (1);	0.455487	0.25783	N	0.028321	T	0.63628	0.2527	M	0.83118	2.625	0.23076	N	0.998331	B	0.09022	0.002	B	0.23150	0.044	T	0.60047	-0.7339	10	0.66056	D	0.02	.	8.9005	0.35493	0.0:0.0653:0.1277:0.807	.	1410	Q8TE73	DYH5_HUMAN	Y	1410	ENSP00000265104:N1410Y	ENSP00000265104:N1410Y	N	-	1	0	DNAH5	13918904	0.924000	0.31332	0.816000	0.32577	0.985000	0.73830	2.180000	0.42537	0.492000	0.27815	-0.279000	0.10071	AAT	.		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13865904	T	A	13865904	3	1	17	1	0	0	0	0	1	0	0	0	4618	1841	64	5	9858	5	DNAH5	5	13865904	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	3575183	13865904	167049356	53	2300											
BRIX1	5810	hgsc.bcm.edu	37	5	34915888	34915888	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:34915888G>T	ENST00000382038.2	-	0	983				RAD1_ENST00000341754.4_Intron|BRIX1_ENST00000506023.1_3'UTR|BRIX1_ENST00000336767.5_Missense_Mutation_p.Q15H	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease						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)			TTGCAGTTCAGGCGAAGAAGC	0.617								Other conserved DNA damage response genes																													p.Q15H		.											.	.	.	0			c.G45T						.						47	52	50					5																	34915888		2192	4291	6483			55299	exon1			AGTTCAGGCGAAG	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.-437C>A	5.37:g.34915888G>T		84	0		85	3	NM_018321	O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	ENST00000382038.2	37	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	g	12.67	2.007884	0.35415	.	.	ENSG00000113460	ENST00000336767	T	0.44482	0.92	4.91	3.78	0.43462	.	0.331424	0.30879	N	0.008697	T	0.29423	0.0733	L	0.36672	1.1	0.26613	N	0.972794	P;P	0.39964	0.511;0.697	B;B	0.35510	0.125;0.204	T	0.15178	-1.0446	10	0.51188	T	0.08	-1.9009	8.886	0.35402	0.1367:0.0:0.8633:0.0	.	15;15	B4E0B8;Q8TDN6	.;BRX1_HUMAN	H	15	ENSP00000338862:Q15H	ENSP00000338862:Q15H	Q	+	3	2	BRIX1	34951645	0.242000	0.23868	0.944000	0.38274	0.348000	0.29142	1.720000	0.38022	0.945000	0.37605	0.651000	0.88453	CAG	.		0.617	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		T	34915888	G	T	34915888	1	4	17	1	0	1	0	0	0	0	0	0	1519	991	35	3		3	BRIX1	5	34915888	De_novo_Start_OutOfFrame	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	21049984	34915888	145999372	54	2301											
MAST4	375449	hgsc.bcm.edu;broad.mit.edu	37	5	66427645	66427645	+	Silent	SNP	A	A	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:66427645A>G	ENST00000403625.2	+	16	2254	c.1959A>G	c.(1957-1959)ggA>ggG	p.G653G	MAST4_ENST00000403666.1_Silent_p.G464G|MAST4_ENST00000405643.1_Silent_p.G474G|MAST4_ENST00000404260.3_Silent_p.G656G|MAST4_ENST00000261569.7_Silent_p.G459G	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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)		TTACAGGGGGAGACTGTGCTA	0.393																																					p.G653G		.											.	.	.	0			c.A1959G						.						116	115	115					5																	66427645		1864	4100	5964	SO:0001819	synonymous_variant	375449	exon16			AGGGGGAGACTGT	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.1959A>G	5.37:g.66427645A>G		91	0		88	4	NM_001164664	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1																																																																																			.		0.393	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			G	66427645	A	G	66427645	2	3	17	1	0	0	0	0	0	0	0	1	9365	291	11	4		4	MAST4	5	66427645	Silent	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09	31511757	66427645	114487615	55	2302											
APC	324	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	112175530	112175530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:112175530delG	ENST00000457016.1	+	16	4619	c.4239delG	c.(4237-4239)atgfs	p.M1413fs	APC_ENST00000508376.2_Frame_Shift_Del_p.M1413fs|APC_ENST00000257430.4_Frame_Shift_Del_p.M1413fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1413	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.V1414fs*9(6)|p.V1414fs*1(6)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414fs*3(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)		GCAGTGGAATGGTAAGTGGCA	0.483		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.M1413fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	.,1	.	4158	19	Deletion - Frameshift(12)|Insertion - Frameshift(6)|Unknown(1)	large_intestine(16)|soft_tissue(1)|breast(1)|skin(1)	c.4238delT						.						117	107	110					5																	112175530		2202	4300	6502	SO:0001589	frameshift_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,	TGGAATGGTAAGT	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.4239delG	5.37:g.112175530delG	ENSP00000413133:p.Met1413fs	35	0		29	18	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																			.		0.483	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		-	112175530	G	-	112175530	7	5	17	1	0	1	0	1	0	0	0	0	763	1348	47	0	4297	0	APC	5	112175530	Frame_Shift_Del	DEL	G	TCGA-W5-AA2X-01A-11D-A417-09	45747885	112175530	68739730	56	2303											
P4HA2	8974	hgsc.bcm.edu	37	5	131531134	131531134	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr5:131531134C>A	ENST00000401867.1	-	14	1979	c.1411G>T	c.(1411-1413)Gat>Tat	p.D471Y	P4HA2_ENST00000360568.3_Missense_Mutation_p.D469Y|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000379104.2_Missense_Mutation_p.D471Y|P4HA2_ENST00000379086.1_Missense_Mutation_p.D469Y|P4HA2_ENST00000379100.2_Missense_Mutation_p.D469Y|P4HA2_ENST00000166534.4_Missense_Mutation_p.D471Y			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	471	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|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)	p.D471H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GCCCCCAGATCAGGGAAGACG	0.493																																					p.D471Y	Esophageal Squamous(68;117 1135 17362 19256 34242)	.											P4HA2,NS,carcinoma,0,1	P4HA2	0	1	Substitution - Missense(1)	lung(1)	c.G1411T						.						122	109	113					5																	131531134		2203	4300	6503	SO:0001583	missense	8974	exon13			CCAGATCAGGGAA	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1411G>T	5.37:g.131531134C>A	ENSP00000384999:p.Asp471Tyr	39	0		39	2	NM_004199	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001034	0.93227	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.71	5.71	0.89125	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	N	0.26092	0.79	0.80722	D	1	P;P	0.42871	0.792;0.57	P;B	0.50537	0.643;0.219	T	0.80089	-0.1528	10	0.72032	D	0.01	-3.697	19.9403	0.97159	0.0:1.0:0.0:0.0	.	471;469	O15460;O15460-2	P4HA2_HUMAN;.	Y	471;469;471;469;471;469	ENSP00000384999:D471Y;ENSP00000368379:D469Y;ENSP00000166534:D471Y;ENSP00000353772:D469Y;ENSP00000368398:D471Y;ENSP00000368394:D469Y	ENSP00000166534:D471Y	D	-	1	0	P4HA2	131559033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.295000	0.78780	2.712000	0.92718	0.650000	0.86243	GAT	.		0.493	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		A	131531134	C	A	131531134	3	1	17	1	0	0	0	0	1	0	0	0	11396	826	29	3	208	3	P4HA2	5	131531134	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	19355604	131531134	49384126	57	2304											
TUBB2A	7280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	3155891	3155891	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:3155891C>T	ENST00000333628.3	-	3	307	c.245G>A	c.(244-246)gGc>gAc	p.G82D	TUBB2A_ENST00000489942.1_5'UTR|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	82					'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)				GAAGATCTGGCCGAAGGGTCC	0.512																																					p.G82D		.											.	.	.	0			c.G245A						.						77	67	71					6																	3155891		2203	4300	6503	SO:0001583	missense	7280	exon3			ATCTGGCCGAAGG	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.245G>A	6.37:g.3155891C>T	ENSP00000369703:p.Gly82Asp	26	0		36	6	NM_001069	Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103018	0.76983	.	.	ENSG00000137267	ENST00000333628	T	0.69040	-0.37	5.16	5.16	0.70880	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.56097	U	0.000039	D	0.89015	0.6595	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.994;1.0	D	0.93314	0.6687	10	0.87932	D	0	.	18.9935	0.92803	0.0:1.0:0.0:0.0	.	82;82	Q13885;Q8N6N5	TBB2A_HUMAN;.	D	82	ENSP00000369703:G82D	ENSP00000369703:G82D	G	-	2	0	TUBB2A	3100890	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	7.565000	0.82337	2.569000	0.86673	0.650000	0.86243	GGC	.		0.512	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069		T	3155891	C	T	3155891	3	4	17	1	0	0	0	0	1	0	0	0	16803	739	26	3	1100	3	TUBB2A	6	3155891	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		3155891	167959176	58	2305											
ZSCAN16	80345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	28094609	28094609	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:28094609C>A	ENST00000340487.4	+	3	585	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	146					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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAAGTTGGCCCCCTTGGGAAG	0.478																																					p.P146T		.											.	.	.	0			c.C436A						.						86	78	81					6																	28094609		2203	4300	6503	SO:0001583	missense	80345	exon3			TTGGCCCCCTTGG	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	20813	protein-coding gene	gene with protein product			"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.436C>A	6.37:g.28094609C>A	ENSP00000366527:p.Pro146Thr	43	0		49	22	NM_025231	Q9H6K2	Missense_Mutation	SNP	ENST00000340487.4	37	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	6.087	0.384261	0.11524	.	.	ENSG00000196812	ENST00000340487	T	0.06218	3.33	3.97	-1.5	0.08691	Transcription regulator SCAN (1);	0.782832	0.10487	N	0.668822	T	0.00815	0.0027	N	0.19112	0.55	0.09310	N	1	P;B	0.35411	0.5;0.01	B;B	0.29353	0.101;0.01	T	0.46373	-0.9196	10	0.25106	T	0.35	.	1.1157	0.01714	0.1687:0.2859:0.3314:0.214	.	146;146	B4DFB7;Q9H4T2	.;ZSC16_HUMAN	T	146	ENSP00000366527:P146T	ENSP00000366527:P146T	P	+	1	0	ZSCAN16	28202588	0.005000	0.15991	0.001000	0.08648	0.961000	0.63080	0.295000	0.19065	-0.188000	0.10499	-0.150000	0.13652	CCC	.		0.478	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		A	28094609	C	A	28094609	3	1	17	1	0	0	0	0	1	0	0	0	18277	623	22	3	442	3	ZSCAN16	6	28094609	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	24938718	28094609	143020458	59	2306											
C6orf136	221545	hgsc.bcm.edu	37	6	30619191	30619191	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:30619191G>T	ENST00000376473.5	+	4	871	c.712G>T	c.(712-714)Gtc>Ttc	p.V238F	C6orf136_ENST00000293604.6_Missense_Mutation_p.V419F|C6orf136_ENST00000528347.2_Missense_Mutation_p.V95F|C6orf136_ENST00000376471.4_Missense_Mutation_p.V104F|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	238						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGGGCTGCCCGTCCACTTGCT	0.502																																					p.V419F		.											C6orf136_ENST00000293604,NS,carcinoma,0,2	C6orf136_ENST00000293604	0	0			c.G1255T						.						127	144	138					6																	30619191		2203	4300	6503	SO:0001583	missense	221545	exon4			CTGCCCGTCCACT	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.712G>T	6.37:g.30619191G>T	ENSP00000365656:p.Val238Phe	14	0		24	3	NM_001161376	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	1.608	-0.524669	0.04141	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801;ENST00000468785	.	.	.	5.26	2.67	0.31697	.	0.353806	0.32314	N	0.006280	T	0.04048	0.0113	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.17667	0.002;0.023;0.014	B;B;B	0.18871	0.003;0.023;0.01	T	0.40251	-0.9573	9	0.21540	T	0.41	-4.1947	3.7695	0.08636	0.6689:0.0:0.1738:0.1573	.	104;419;238	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	F	419;238;104;356;95;60;51;11	.	ENSP00000293604:V419F	V	+	1	0	C6orf136	30727170	0.331000	0.24713	0.296000	0.24974	0.262000	0.26303	0.303000	0.19210	0.422000	0.26005	-0.290000	0.09829	GTC	.		0.502	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		T	30619191	G	T	30619191	3	4	17	1	0	0	0	0	1	0	0	0	2338	1145	40	2	1269	2	C6orf136	6	30619191	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	2524582	30619191	140495876	60	2307											
ANKS1A	23294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	34949681	34949681	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:34949681C>T	ENST00000360359.3	+	4	788	c.650C>T	c.(649-651)aCc>aTc	p.T217I	ANKS1A_ENST00000535627.1_Missense_Mutation_p.T217I	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	217					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						AAGAAGCACACCCCTCTGCAC	0.592																																					p.T217I		.											.	.	.	0			c.C650T						.						140	129	133					6																	34949681		2203	4300	6503	SO:0001583	missense	23294	exon4			AGCACACCCCTCT	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.650C>T	6.37:g.34949681C>T	ENSP00000353518:p.Thr217Ile	24	0		35	11	NM_015245	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623441	0.87460	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.63744	-0.06;-0.06	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000106	D	0.84088	0.5395	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.86899	0.2053	10	0.87932	D	0	-25.5452	20.422	0.99049	0.0:1.0:0.0:0.0	.	217;217	B4DQW8;Q92625	.;ANS1A_HUMAN	I	217	ENSP00000353518:T217I;ENSP00000438752:T217I	ENSP00000353518:T217I	T	+	2	0	ANKS1A	35057659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.832000	0.97577	0.655000	0.94253	ACC	.		0.592	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		T	34949681	C	T	34949681	3	4	17	1	0	0	0	0	1	0	0	0	688	507	18	3	664	3	ANKS1A	6	34949681	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	4330490	34949681	136165386	61	2308											
DNAH8	1769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	38816516	38816516	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:38816516A>T	ENST00000359357.3	+	35	4741	c.4487A>T	c.(4486-4488)aAc>aTc	p.N1496I	DNAH8_ENST00000441566.1_Missense_Mutation_p.N1496I|DNAH8_ENST00000449981.2_Missense_Mutation_p.N1713I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1496					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						GTAGTACAGAACCTTTGGGTT	0.358																																					p.N1713I		.											.	.	.	0			c.A5138T						.						81	88	86					6																	38816516		2203	4300	6503	SO:0001583	missense	1769	exon37			TACAGAACCTTTG	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.4487A>T	6.37:g.38816516A>T	ENSP00000352312:p.Asn1496Ile	63	0		65	30	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	27.6	4.845616	0.91197	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.61392	0.11;0.11;0.11	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	0.105827	0.64402	D	0.000012	T	0.77751	0.4177	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82808	-0.0274	10	0.59425	D	0.04	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	1496	Q96JB1	DYH8_HUMAN	I	1701;1701;1496;1496	ENSP00000333363:N1701I;ENSP00000352312:N1496I;ENSP00000402294:N1496I	ENSP00000333363:N1701I	N	+	2	0	DNAH8	38924494	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.122000	0.94380	2.220000	0.72140	0.533000	0.62120	AAC	.		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38816516	A	T	38816516	3	4	17	1	0	0	0	0	1	0	0	0	4621	43	2	5	4617	5	DNAH8	6	38816516	Missense_Mutation	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09	3866835	38816516	132298551	62	2309											
COL12A1	1303	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	75853032	75853032	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:75853032G>A	ENST00000322507.8	-	26	5072	c.4763C>T	c.(4762-4764)cCt>cTt	p.P1588L	COL12A1_ENST00000345356.6_Missense_Mutation_p.P424L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P1588L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1588L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1588	Fibronectin type-III 11. {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						TCCAGGCACAGGTTCCCAAAA	0.398																																					p.P1588L		.											.	.	.	0			c.C4763T						.						151	138	142					6																	75853032		1877	4120	5997	SO:0001583	missense	1303	exon26			GGCACAGGTTCCC	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.4763C>T	6.37:g.75853032G>A	ENSP00000325146:p.Pro1588Leu	39	0		42	4	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595057	0.86953	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.81	5.81	0.92471	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119515	0.56097	D	0.000034	T	0.60881	0.2303	M	0.86502	2.82	0.54753	D	0.99998	P;P	0.45634	0.835;0.863	B;B	0.43990	0.311;0.438	T	0.70490	-0.4857	10	0.72032	D	0.01	.	16.3372	0.83068	0.0:0.1319:0.8681:0.0	.	424;1588	Q99715-2;Q99715	.;COCA1_HUMAN	L	1588;1588;424;1588;1588	ENSP00000325146:P1588L;ENSP00000305147:P424L;ENSP00000412864:P1588L;ENSP00000421216:P1588L	ENSP00000325146:P1588L	P	-	2	0	COL12A1	75909752	1.000000	0.71417	0.976000	0.42696	0.939000	0.58152	5.959000	0.70339	2.746000	0.94184	0.655000	0.94253	CCT	.		0.398	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		A	75853032	G	A	75853032	3	1	17	1	0	0	0	0	1	0	0	0	3676	1000	35	3	4592	3	COL12A1	6	75853032	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	37036516	75853032	95262035	63	2310											
MDN1	23195	hgsc.bcm.edu	37	6	90472214	90472214	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:90472214G>T	ENST00000369393.3	-	16	2295	c.2180C>A	c.(2179-2181)cCc>cAc	p.P727H	MDN1_ENST00000428876.1_Missense_Mutation_p.P727H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	727					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)		CTCCCGTAAGGGTAGCCAAAT	0.413																																					p.P727H		.											.	.	.	0			c.C2180A						.						91	84	86					6																	90472214		2203	4300	6503	SO:0001583	missense	23195	exon16			CGTAAGGGTAGCC	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.2180C>A	6.37:g.90472214G>T	ENSP00000358400:p.Pro727His	41	0		46	3	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829520	0.71258	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.57273	0.41;0.41;0.41	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.91768	3.24	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.73380	0.977;0.98	T	0.80930	-0.1162	10	0.72032	D	0.01	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	654;727	Q5T795;Q9NU22	.;MDN1_HUMAN	H	727;727;654	ENSP00000358400:P727H;ENSP00000413970:P727H;ENSP00000409664:P654H	ENSP00000358400:P727H	P	-	2	0	MDN1	90528935	1.000000	0.71417	0.982000	0.44146	0.913000	0.54294	9.476000	0.97823	2.777000	0.95525	0.591000	0.81541	CCC	.		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90472214	G	T	90472214	3	4	17	1	0	0	0	0	1	0	0	0	9453	1232	43	3	14958	3	MDN1	6	90472214	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	14619182	90472214	80642853	64	2311											
WISP3	8838	hgsc.bcm.edu	37	6	112389433	112389433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:112389433G>A	ENST00000368666.2	+	4	901	c.615G>A	c.(613-615)tgG>tgA	p.W205*	WISP3_ENST00000361714.1_Nonsense_Mutation_p.W223*|WISP3_ENST00000230529.5_Nonsense_Mutation_p.W205*|WISP3_ENST00000368663.3_Nonsense_Mutation_p.W182*|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000604763.1_Nonsense_Mutation_p.W205*	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	205					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CACTTATTTGGAAAAAAAAAT	0.333																																					p.W223X		.											.,1	.	33	0			c.G669A						.						45	46	46					6																	112389433		2203	4298	6501	SO:0001587	stop_gained	8838	exon4			TATTTGGAAAAAA	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.615G>A	6.37:g.112389433G>A	ENSP00000357655:p.Trp205*	92	0		91	4	NM_198239	Q3KR29|Q5H8W4|Q6UXH6	Nonsense_Mutation	SNP	ENST00000368666.2	37	CCDS5098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.660110|5.660110	0.96734|0.96734	.|.	.|.	ENSG00000112761|ENSG00000112761	ENST00000541400|ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.200433	.|0.48286	.|D	.|0.000197	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.41790	.|T	.|0.15	.|-0.8536	20.0706|20.0706	0.97721|0.97721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|205;205;223;205;182	.|.	.|ENSP00000230529:W205X	.|W	+|+	.|3	.|0	WISP3|WISP3	112496126|112496126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.716000|5.716000	0.68437|0.68437	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	.|TGG	.		0.333	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		A	112389433	G	A	112389433	4	1	17	1	0	0	0	0	0	1	0	0	17423	1183	41	3	683	3	WISP3	6	112389433	Nonsense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	21917219	112389433	58725634	65	2312											
HS3ST5	222537	hgsc.bcm.edu;bcgsc.ca	37	6	114379057	114379057	+	Silent	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:114379057G>T	ENST00000312719.5	-	5	1593	c.405C>A	c.(403-405)ggC>ggA	p.G135G	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.G135G			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	135					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)		ACCACTCAATGCCCTTACCAT	0.423																																					p.G135G		.											.	.	.	0			c.C405A						.						112	114	113					6																	114379057		2203	4300	6503	SO:0001819	synonymous_variant	222537	exon2			CTCAATGCCCTTA	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.405C>A	6.37:g.114379057G>T		47	0		55	4	NM_153612	A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	CCDS34517.1																																																																																			.		0.423	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		T	114379057	G	T	114379057	2	4	17	1	0	0	0	0	0	0	0	1	7395	1306	46	3		3	HS3ST5	6	114379057	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1989624	114379057	56736010	66	2313											
PTPRK	5796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	128304395	128304395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:128304395G>A	ENST00000368215.3	-	23	3375	c.3376C>T	c.(3376-3378)Cag>Tag	p.Q1126*	PTPRK_ENST00000368213.5_Nonsense_Mutation_p.Q1133*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.Q1144*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.Q1149*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.Q1159*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.Q1145*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.Q1127*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1126	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		ACCTCTGTCTGGACCATATTA	0.348																																					p.Q1133X		.											.	.	.	0			c.C3397T						.						72	60	64					6																	128304395		2202	4299	6501	SO:0001587	stop_gained	5796	exon24			CTGTCTGGACCAT	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.3376C>T	6.37:g.128304395G>A	ENSP00000357198:p.Gln1126*	31	0		48	20	NM_001135648	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	G	43	9.887876	0.99288	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5264	0.90974	0.0:0.0:1.0:0.0	.	.	.	.	X	1127;1144;1149;1133;1145;1126;1159	.	ENSP00000357190:Q1159X	Q	-	1	0	PTPRK	128346088	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.623000	0.88846	0.585000	0.79938	CAG	.		0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			A	128304395	G	A	128304395	4	1	17	1	0	0	0	0	0	1	0	0	12850	1357	47	3	975	3	PTPRK	6	128304395	Nonsense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	13925338	128304395	42810672	67	2314											
WDR27	253769	hgsc.bcm.edu	37	6	170013745	170013745	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr6:170013745G>A	ENST00000448612.1	-	22	2340	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.S744L|WDR27_ENST00000423258.1_Missense_Mutation_p.S617L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	714						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)		GGTTGTAAATGATGAACCCTA	0.423																																					p.S744L		.											WDR27_ENST00000448612,bladder,carcinoma,0,2	WDR27_ENST00000448612	0	0			c.C2231T						.						70	69	70					6																	170013745		1868	4111	5979	SO:0001583	missense	253769	exon22			GTAAATGATGAAC	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.2231C>T	6.37:g.170013745G>A	ENSP00000416289:p.Ser744Leu	45	0		37	2	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203296	0.58234	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.38240	1.79;1.15;1.7	4.88	4.01	0.46588	.	1.117080	0.06928	N	0.810584	T	0.26376	0.0644	N	0.16166	0.38	0.28015	N	0.934761	P;D;P	0.71674	0.773;0.998;0.822	B;D;B	0.66351	0.138;0.943;0.315	T	0.36261	-0.9755	10	0.45353	T	0.12	-0.3203	11.1924	0.48693	0.092:0.0:0.908:0.0	.	744;617;744	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	L	744;744;617	ENSP00000416289:S744L;ENSP00000330265:S744L;ENSP00000397869:S617L	ENSP00000330265:S744L	S	-	2	0	WDR27	169755670	0.748000	0.28294	0.001000	0.08648	0.027000	0.11550	3.148000	0.50647	1.174000	0.42811	0.585000	0.79938	TCA	.		0.423	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		A	170013745	G	A	170013745	3	1	17	1	0	0	0	0	1	0	0	0	17333	1294	45	3	358	3	WDR27	6	170013745	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	41709350	170013745	1101322	68	2315											
HDAC9	9734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	18631142	18631142	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:18631142C>T	ENST00000432645.2	+	4	410	c.410C>T	c.(409-411)gCa>gTa	p.A137V	HDAC9_ENST00000456174.2_Missense_Mutation_p.A109V|HDAC9_ENST00000405010.3_Missense_Mutation_p.A137V|HDAC9_ENST00000417496.2_Missense_Mutation_p.A179V|HDAC9_ENST00000441542.2_Missense_Mutation_p.A140V|HDAC9_ENST00000524023.1_Missense_Mutation_p.A106V|HDAC9_ENST00000428307.2_Missense_Mutation_p.A137V|HDAC9_ENST00000401921.1_Missense_Mutation_p.A140V|HDAC9_ENST00000406451.4_Missense_Mutation_p.A137V|HDAC9_ENST00000406072.1_Missense_Mutation_p.A168V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	137	Interaction with MEF2. {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)	ATTTCAGGGGCAGTGGCAAGT	0.428																																					p.A179V		.											.	.	.	0			c.C536T						.						34	34	34					7																	18631142		1948	4145	6093	SO:0001583	missense	9734	exon7			CAGGGGCAGTGGC	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.410C>T	7.37:g.18631142C>T	ENSP00000410337:p.Ala137Val	21	0		24	8	NM_001204144	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330388	0.95733	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;D;T;T;D;D;D;T;T;T	0.82893	-1.06;-0.14;-1.34;-1.65;-1.05;-1.12;-1.57;-1.66;-1.65;0.23;-1.36;-1.02	5.74	4.83	0.62350	.	0.111338	0.39407	N	0.001370	D	0.90356	0.6982	M	0.84219	2.685	0.80722	D	1	P;P;P;D;P;P;D;P;P;P;P;P;P	0.59357	0.824;0.923;0.954;0.985;0.824;0.629;0.974;0.954;0.939;0.813;0.954;0.954;0.923	B;P;P;P;P;B;P;P;P;P;P;P;P	0.59643	0.378;0.596;0.772;0.861;0.5;0.382;0.772;0.772;0.672;0.478;0.772;0.772;0.596	D	0.91720	0.5388	10	0.87932	D	0	-3.833	16.8211	0.85746	0.0:0.8718:0.1282:0.0	.	106;109;137;168;179;140;140;140;137;109;137;137;159	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	V	179;182;140;137;137;137;168;140;137;140;106;109;106;137	ENSP00000401669:A179V;ENSP00000392564:A140V;ENSP00000384382:A137V;ENSP00000384657:A137V;ENSP00000395655:A137V;ENSP00000384017:A168V;ENSP00000383912:A140V;ENSP00000410337:A137V;ENSP00000408617:A140V;ENSP00000404763:A106V;ENSP00000388568:A109V;ENSP00000430036:A106V	ENSP00000262069:A182V	A	+	2	0	HDAC9	18597667	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.992000	0.70609	2.712000	0.92718	0.650000	0.86243	GCA	.		0.428	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18631142	C	T	18631142	3	4	17	1	0	0	0	0	1	0	0	0	7041	710	25	3	433	3	HDAC9	7	18631142	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		18631142	140507521	69	2316											
ABCA13	154664	hgsc.bcm.edu	37	7	48318055	48318055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:48318055G>T	ENST00000435803.1	+	18	7288	c.7264G>T	c.(7264-7266)Gag>Tag	p.E2422*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2422					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						ATGTTCAACAGAGATGGCAAG	0.398																																					p.E2422X		.											.	.	.	0			c.G7264T						.						84	82	82					7																	48318055		1850	4097	5947	SO:0001587	stop_gained	154664	exon18			TCAACAGAGATGG	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.7264G>T	7.37:g.48318055G>T	ENSP00000411096:p.Glu2422*	35	0		72	3	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	47	13.194291	0.99726	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.82	3.92	0.45320	.	0.306710	0.23118	N	0.051723	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.5575	0.39348	0.103:0.0:0.897:0.0	.	.	.	.	X	2422	.	ENSP00000411096:E2422X	E	+	1	0	ABCA13	48288601	0.006000	0.16342	0.005000	0.12908	0.114000	0.19823	1.466000	0.35310	2.406000	0.81754	0.655000	0.94253	GAG	.		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48318055	G	T	48318055	4	4	17	1	0	0	0	0	0	1	0	0	31	943	33	3	7163	3	ABCA13	7	48318055	Nonsense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	29686913	48318055	110820608	70	2317											
ELN	2006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	73474351	73474351	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:73474351C>A	ENST00000252034.7	+	23	1949	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	ELN_ENST00000380576.5_Missense_Mutation_p.P498H|ELN_ENST00000458204.1_Missense_Mutation_p.P507H|ELN_ENST00000358929.4_Missense_Mutation_p.P552H|ELN_ENST00000380553.4_Missense_Mutation_p.P381H|ELN_ENST00000357036.5_Missense_Mutation_p.P522H|ELN_ENST00000380584.4_Missense_Mutation_p.P484H|ELN_ENST00000429192.1_Missense_Mutation_p.P503H|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.P493H|ELN_ENST00000445912.1_Missense_Mutation_p.P517H|ELN_ENST00000380575.4_Missense_Mutation_p.P488H|ELN_ENST00000380562.4_Missense_Mutation_p.P523H|ELN_ENST00000320399.6_Missense_Mutation_p.P517H|ELN_ENST00000320492.7_Missense_Mutation_p.P436H	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)				GGCGTGGCTCCCGGCATTGGC	0.652			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																														p.P522H		.		Dom	yes		7	7q11.23	2006	elastin	yes	L	.	.	.	0			c.C1565A						.						111	105	107					7																	73474351		2203	4300	6503	SO:0001583	missense	2006	exon23			TGGCTCCCGGCAT		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.1550C>A	7.37:g.73474351C>A	ENSP00000252034:p.Pro517His	85	0		80	15	NM_001081754	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912620	0.33721	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42900	1.12;1.25;1.09;1.29;0.96;1.09;1.12;1.36;1.22;1.22;1.04;0.98;1.1;1.14	4.2	2.24	0.28232	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P;P	0.49447	0.924;0.924;0.924;0.924;0.924;0.924;0.924;0.924;0.924;0.924;0.924;0.924;0.924	P;P;P;P;P;P;P;P;P;P;P;P;P	0.53313	0.723;0.723;0.723;0.723;0.723;0.723;0.723;0.723;0.723;0.723;0.723;0.723;0.723	T	0.26985	-1.0087	8	0.49607	T	0.09	.	7.1884	0.25813	0.0:0.6568:0.2419:0.1014	.	517;436;493;507;523;488;503;522;498;381;428;484;517	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	H	517;517;552;436;493;523;488;484;507;522;503;456;381;498;517	ENSP00000389857:P517H;ENSP00000252034:P517H;ENSP00000351807:P552H;ENSP00000315607:P436H;ENSP00000392575:P493H;ENSP00000369936:P523H;ENSP00000369949:P488H;ENSP00000369958:P484H;ENSP00000403162:P507H;ENSP00000349540:P522H;ENSP00000391129:P503H;ENSP00000369926:P381H;ENSP00000369950:P498H;ENSP00000313565:P517H	ENSP00000252034:P517H	P	+	2	0	ELN	73112287	0.007000	0.16637	0.003000	0.11579	0.021000	0.10359	1.492000	0.35594	0.402000	0.25451	0.650000	0.86243	CCC	.		0.652	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		A	73474351	C	A	73474351	3	1	17	1	0	0	0	0	1	0	0	0	5087	623	22	3	1655	3	ELN	7	73474351	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	25156296	73474351	85664312	71	2318											
GTF2IRD1	9569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	73927158	73927158	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:73927158A>G	ENST00000265755.3	+	3	516		c.e3-1		GTF2IRD1_ENST00000424337.2_Splice_Site|GTF2IRD1_ENST00000476977.1_Splice_Site|GTF2IRD1_ENST00000455841.2_Splice_Site|GTF2IRD1_ENST00000489094.1_Splice_Site	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1						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						CCCTTCCCACAGTGCTCAGCG	0.612																																					.		.											.	.	.	0			c.124-2A>G						.						69	63	65					7																	73927158		2203	4300	6503	SO:0001630	splice_region_variant	9569	exon3			TCCCACAGTGCTC	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.124-1A>G	7.37:g.73927158A>G		36	0		33	15	NM_005685	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Splice_Site	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737658	0.69304	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7282	0.62771	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF2IRD1	73565094	1.000000	0.71417	0.982000	0.44146	0.806000	0.45545	8.333000	0.90026	1.978000	0.57642	0.528000	0.53228	.	.		0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	Intron	G	73927158	A	G	73927158	5	3	17	1	0	0	0	0	0	0	1	0	6895	202	7	4	128	4	GTF2IRD1	7	73927158	Splice_Site	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09	452807	73927158	85211505	72	2319											
SND1	27044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	127724776	127724776	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:127724776G>A	ENST00000354725.3	+	19	2305	c.2111G>A	c.(2110-2112)gGc>gAc	p.G704D	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	704					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						TCCCTGGCAGGCACCCAGTTG	0.582																																					p.G704D		.											.	.	.	0			c.G2111A						.						88	76	80					7																	127724776		2203	4300	6503	SO:0001630	splice_region_variant	27044	exon19			TGGCAGGCACCCA		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.2111-1G>A	7.37:g.127724776G>A		14	0		17	6	NM_014390	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985321	0.93044	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.08458	3.09;3.09	5.52	5.52	0.82312	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00498	-1.1704	9	.	.	.	.	16.9341	0.86199	0.0:0.0:1.0:0.0	.	704	Q7KZF4	SND1_HUMAN	D	704;694;190	ENSP00000346762:G704D;ENSP00000419327:G190D	.	G	+	2	0	SND1	127512012	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.146000	0.94640	2.586000	0.87340	0.561000	0.74099	GGC	.		0.582	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	Missense_Mutation	A	127724776	G	A	127724776	5	1	17	1	0	0	0	0	0	0	1	0	14889	1217	42	3	2185	3	SND1	7	127724776	Splice_Site	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	53797618	127724776	31413887	73	2320											
TMUB1	83590	broad.mit.edu	37	7	150778815	150778815	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:150778815G>A	ENST00000392818.3	-	3	919	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	TMUB1_ENST00000482202.1_Missense_Mutation_p.P188S|FASTK_ENST00000482571.1_5'Flank|TMUB1_ENST00000297533.4_Missense_Mutation_p.P188S|FASTK_ENST00000489884.1_5'Flank|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000540185.1_5'Flank|TMUB1_ENST00000462940.1_Missense_Mutation_p.P188S|FASTK_ENST00000353841.2_5'Flank|TMUB1_ENST00000476627.1_Missense_Mutation_p.P188S	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	188						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGGGCCGGGCTCGGACCCC	0.677																																					p.P188S													.	TMUB1	7	0			c.C562T						.						8	10	9					7																	150778815		2161	4235	6396	SO:0001583	missense	83590	exon3			GGCCGGGCTCGGA	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"chromosome 7 open reading frame 21"	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.562C>T	7.37:g.150778815G>A	ENSP00000376565:p.Pro188Ser	18	0		21	9	NM_031434	D3DX06|Q53AQ2	Missense_Mutation	SNP	ENST00000392818.3	37	CCDS5920.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224083	0.39300	.	.	ENSG00000164897	ENST00000297533;ENST00000392818;ENST00000462940;ENST00000482202;ENST00000476627	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	4.46	3.5	0.40072	.	0.154326	0.44483	D	0.000450	T	0.38295	0.1035	L	0.27053	0.805	0.30055	N	0.8114	B	0.29988	0.264	B	0.26693	0.072	T	0.27020	-1.0086	10	0.22706	T	0.39	.	8.9217	0.35615	0.0:0.1476:0.6827:0.1697	.	188	Q9BVT8	TMUB1_HUMAN	S	188	ENSP00000297533:P188S;ENSP00000376565:P188S;ENSP00000417519:P188S;ENSP00000418709:P188S;ENSP00000419214:P188S	ENSP00000297533:P188S	P	-	1	0	TMUB1	150409748	0.999000	0.42202	1.000000	0.80357	0.946000	0.59487	2.264000	0.43302	2.295000	0.77249	0.313000	0.20887	CCC	.		0.677	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		A	150778815	G	A	150778815	3	1	17	1	0	0	0	0	1	0	0	0	16311	1203	42	3	182	3	TMUB1	7	150778815	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	23054039	150778815	8359848	74	2321											
PAXIP1	22976	bcgsc.ca	37	7	154785435	154785435	+	Splice_Site	SNP	C	C	T	rs537365659		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:154785435C>T	ENST00000404141.1	-	3	415		c.e3+1		PAXIP1_ENST00000473219.1_Splice_Site|PAXIP1_ENST00000397192.1_Splice_Site			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1						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)		AAAAAGGATACGGCAGAAGAG	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		14309	0		0	False		,,,				2504	0				.													.	PAXIP1	150	0			c.260+1G>A						.						85	76	79					7																	154785435		1811	4073	5884	SO:0001630	splice_region_variant	22976	exon4			AGGATACGGCAGA	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.260+1G>A	7.37:g.154785435C>T		54	0		59	5	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Splice_Site	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.690036	0.88735	.	.	ENSG00000157212	ENST00000404141;ENST00000397192	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5377	0.91017	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAXIP1	154416368	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.492000	0.81482	2.351000	0.79841	0.655000	0.94253	.	.		0.378	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	Intron	T	154785435	C	T	154785435	5	4	17	1	0	0	0	0	0	0	1	0	11526	550	19	1	3024	1	PAXIP1	7	154785435	Splice_Site	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	4006620	154785435	4353228	75	2322											
LMBR1	64327	hgsc.bcm.edu	37	7	156480753	156480753	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:156480753G>A	ENST00000353442.5	-	16	1594	c.1358C>T	c.(1357-1359)gCa>gTa	p.A453V	LMBR1_ENST00000354505.4_Missense_Mutation_p.A494V|LMBR1_ENST00000359422.4_Intron|LMBR1_ENST00000540390.1_Intron	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	453					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)		p.A453V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTCTCGAACTGCAGAGGTGAA	0.343																																					p.A453V		.											LMBR1,NS,carcinoma,0,1	LMBR1	0	1	Substitution - Missense(1)	endometrium(1)	c.C1358T						.						70	74	73					7																	156480753		2203	4300	6503	SO:0001583	missense	64327	exon16			CGAACTGCAGAGG	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1358C>T	7.37:g.156480753G>A	ENSP00000326604:p.Ala453Val	89	0		70	3	NM_022458	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288608	0.95517	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505	T;T;T	0.51325	0.71;0.74;0.74	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.63843	1.955	0.80722	D	1	D;P	0.58970	0.984;0.759	P;B	0.57204	0.815;0.259	T	0.65792	-0.6082	10	0.66056	D	0.02	-11.4016	15.6202	0.76799	0.0:0.0:0.8613:0.1387	.	494;453	Q8WVP7-3;Q8WVP7	.;LMBR1_HUMAN	V	453;492;494	ENSP00000326604:A453V;ENSP00000408256:A492V;ENSP00000346500:A494V	ENSP00000326604:A453V	A	-	2	0	LMBR1	156173514	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	9.507000	0.97996	1.368000	0.46115	0.655000	0.94253	GCA	.		0.343	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		A	156480753	G	A	156480753	3	1	17	1	0	0	0	0	1	0	0	0	8870	1319	46	3	122	3	LMBR1	7	156480753	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1695318	156480753	2657910	76	2323											
NOM1	64434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	156743095	156743095	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr7:156743095G>C	ENST00000275820.3	+	1	679	c.664G>C	c.(664-666)Gcc>Ccc	p.A222P		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	222	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)		TATTCTGGGAGCCCTGGAGTC	0.562																																					p.A222P		.											.	.	.	0			c.G664C						.						89	99	95					7																	156743095		2203	4300	6503	SO:0001583	missense	64434	exon1			CTGGGAGCCCTGG	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.664G>C	7.37:g.156743095G>C	ENSP00000275820:p.Ala222Pro	48	0		48	27	NM_138400	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327321	0.81690	.	.	ENSG00000146909	ENST00000275820	T	0.12465	2.68	4.19	4.19	0.49359	.	0.411925	0.22451	N	0.059889	T	0.25494	0.0620	L	0.48642	1.525	0.32178	N	0.580673	D	0.71674	0.998	P	0.62014	0.897	T	0.09143	-1.0688	10	0.36615	T	0.2	-13.6968	12.6477	0.56744	0.0:0.1664:0.8336:0.0	.	222	Q5C9Z4	NOM1_HUMAN	P	222	ENSP00000275820:A222P	ENSP00000275820:A222P	A	+	1	0	NOM1	156435856	1.000000	0.71417	0.890000	0.34922	0.986000	0.74619	4.235000	0.58666	2.154000	0.67381	0.650000	0.86243	GCC	.		0.562	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		C	156743095	G	C	156743095	3	2	17	1	0	0	0	0	1	0	0	0	10569	971	34	5	666	5	NOM1	7	156743095	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	262342	156743095	2395568	77	2324											
POLB	5423	hgsc.bcm.edu;bcgsc.ca	37	8	42202490	42202490	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr8:42202490G>T	ENST00000265421.4	+	3	309	c.139G>T	c.(139-141)Gca>Tca	p.A47S	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	47					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	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;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ATCTGTTATAGCAAAATACCC	0.343								DNA polymerases (catalytic subunits)																													p.A47S		.											.	.	.	0			c.G139T						.						157	160	159					8																	42202490		2203	4300	6503	SO:0001583	missense	5423	exon3			GTTATAGCAAAAT		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.139G>T	8.37:g.42202490G>T	ENSP00000265421:p.Ala47Ser	50	0		58	4	NM_002690	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.307986	0.40895	.	.	ENSG00000070501	ENST00000265421;ENST00000518925	T;T	0.44482	0.92;0.92	5.65	5.65	0.86999	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.166497	0.52532	D	0.000070	T	0.25865	0.0630	N	0.10760	0.04	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.07233	-1.0783	10	0.22109	T	0.4	-0.0127	17.2265	0.86972	0.0:0.0:1.0:0.0	.	47;47	Q53EV2;P06746	.;DPOLB_HUMAN	S	47	ENSP00000265421:A47S;ENSP00000430784:A47S	ENSP00000265421:A47S	A	+	1	0	POLB	42321647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.314000	0.43743	2.662000	0.90505	0.650000	0.86243	GCA	.		0.343	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		T	42202490	G	T	42202490	3	4	17	1	0	0	0	0	1	0	0	0	12228	971	34	3	149	3	POLB	8	42202490	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09		42202490	104161532	78	2325											
CHD7	55636	hgsc.bcm.edu;bcgsc.ca	37	8	61734399	61734399	+	Silent	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr8:61734399C>T	ENST00000423902.2	+	10	3227	c.2748C>T	c.(2746-2748)agC>agT	p.S916S	CHD7_ENST00000525508.1_Silent_p.S916S|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	916	Chromo 2. {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)			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)			ATGAAGACAGCACGTGGGAGC	0.453																																					p.S916S		.											.	.	.	0			c.C2748T						.						54	54	54					8																	61734399		1904	4136	6040	SO:0001819	synonymous_variant	55636	exon10			AGACAGCACGTGG	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.2748C>T	8.37:g.61734399C>T		49	0		49	4	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																			.		0.453	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61734399	C	T	61734399	2	4	17	1	0	0	0	0	0	0	0	1	3337	709	25	3		3	CHD7	8	61734399	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	19531909	61734399	84629623	79	2326											
TMEM55A	55529	hgsc.bcm.edu	37	8	92033557	92033557	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr8:92033557C>T	ENST00000285419.3	-	2	496	c.182G>A	c.(181-183)tGc>tAc	p.C61Y	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	61						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.C61Y(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TAGTGATTGGCACACACGGCA	0.443																																					p.C61Y		.											TMEM55A,colon,carcinoma,0,1	TMEM55A	0	1	Substitution - Missense(1)	large_intestine(1)	c.G182A						.						128	116	120					8																	92033557		2203	4300	6503	SO:0001583	missense	55529	exon2			GATTGGCACACAC	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.182G>A	8.37:g.92033557C>T	ENSP00000285419:p.Cys61Tyr	40	0		43	2	NM_018710	B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077469	0.55753	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	M	0.68317	2.08	0.80722	D	1	D	0.62365	0.991	D	0.77557	0.99	T	0.79711	-0.1689	9	0.87932	D	0	-2.7366	14.169	0.65497	0.0:0.9288:0.0:0.0712	.	61	Q8N4L2	TM55A_HUMAN	Y	61;67	.	ENSP00000285419:C61Y	C	-	2	0	TMEM55A	92102733	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.320000	0.79064	1.505000	0.48720	-0.142000	0.14014	TGC	.		0.443	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		T	92033557	C	T	92033557	3	4	17	1	0	0	0	0	1	0	0	0	16228	710	25	3	615	3	TMEM55A	8	92033557	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	30299158	92033557	54330465	80	2327											
STK3	6788	hgsc.bcm.edu	37	8	99786981	99786981	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr8:99786981C>A	ENST00000419617.2	-	2	233	c.93G>T	c.(91-93)gaG>gaT	p.E31D	STK3_ENST00000523601.1_Missense_Mutation_p.E59D	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	31	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)		CTCCAAGCTTCTCTAATACAT	0.269																																					p.E59D		.											STK3,NS,carcinoma,0,1	STK3	0	0			c.G177T						.						60	55	57					8																	99786981		1791	4060	5851	SO:0001583	missense	6788	exon4			AAGCTTCTCTAAT	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.93G>T	8.37:g.99786981C>A	ENSP00000390500:p.Glu31Asp	23	0		40	2	NM_001256312	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937049	0.34189	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.14391	2.51;2.51;3.08	5.3	4.42	0.53409	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	0.09423	0.0232	L	0.39898	1.24	0.49130	D	0.999755	B;B;B	0.26512	0.04;0.079;0.151	B;B;B	0.24006	0.027;0.04;0.05	T	0.06881	-1.0802	10	0.06625	T	0.88	.	8.5656	0.33538	0.0:0.7684:0.0:0.2316	.	31;31;59	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	D	31;59;31	ENSP00000390500:E31D;ENSP00000429744:E59D;ENSP00000428014:E31D	ENSP00000390500:E31D	E	-	3	2	STK3	99856157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.321000	0.33678	1.226000	0.43582	0.563000	0.77884	GAG	.		0.269	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		A	99786981	C	A	99786981	3	1	17	1	0	0	0	0	1	0	0	0	15342	912	32	3	1422	3	STK3	8	99786981	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	7753424	99786981	46577041	81	2328											
AK3	50808	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	4740952	4740952	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:4740952T>C	ENST00000381809.3	-	1	366	c.136A>G	c.(136-138)Atg>Gtg	p.M46V	AK3_ENST00000447596.4_Missense_Mutation_p.M46V|AK3_ENST00000359883.2_Intron	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	44	NMPbind.				ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	CCCCGCAGCATGTTGTCCCGG	0.721																																					p.M46V		.											.	.	.	0			c.A136G						.						28	26	27					9																	4740952		2202	4300	6502	SO:0001583	missense	50808	exon1			GCAGCATGTTGTC	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.136A>G	9.37:g.4740952T>C	ENSP00000371230:p.Met46Val	56	0		56	33	NM_016282	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	37	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562622	0.27915	.	.	ENSG00000147853	ENST00000381809;ENST00000447596	T;T	0.74421	-0.84;-0.84	4.25	4.25	0.50352	.	0.172164	0.53938	D	0.000056	T	0.33556	0.0867	N	0.00456	-1.48	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.47983	-0.9074	10	0.02654	T	1	-10.0745	8.0284	0.30451	0.0:0.0946:0.0:0.9054	.	46;46	E7ET30;Q9UIJ7	.;KAD3_HUMAN	V	46	ENSP00000371230:M46V;ENSP00000413933:M46V	ENSP00000371230:M46V	M	-	1	0	AK3	4730952	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.577000	0.53885	1.767000	0.52121	0.379000	0.24179	ATG	.		0.721	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		C	4740952	T	C	4740952	3	2	17	1	0	0	0	0	1	0	0	0	441	1464	51	4	567	4	AK3	9	4740952	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09		4740952	136472479	82	2329											
HAUS6	54801	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	19063525	19063525	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:19063525G>T	ENST00000380502.3	-	13	1897	c.1430C>A	c.(1429-1431)aCa>aAa	p.T477K	HAUS6_ENST00000380496.1_Missense_Mutation_p.T341K|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	477					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						TTCAAGTACTGTAACACTGTT	0.284																																					p.T477K		.											.	.	.	0			c.C1430A						.						38	40	39					9																	19063525		2203	4300	6503	SO:0001583	missense	54801	exon13			AGTACTGTAACAC	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.1430C>A	9.37:g.19063525G>T	ENSP00000369871:p.Thr477Lys	40	0		55	5	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	8.468	0.856821	0.17106	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.24538	1.86;1.85	5.52	-2.94	0.05581	.	1.496330	0.03302	N	0.189109	T	0.15349	0.0370	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.28933	0.228;0.137;0.019;0.228	B;B;B;B	0.18561	0.022;0.022;0.012;0.022	T	0.10800	-1.0614	10	0.06625	T	0.88	0.7303	0.458	0.00512	0.3888:0.143:0.203:0.2652	.	442;477;341;477	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	K	477;341	ENSP00000369871:T477K;ENSP00000369865:T341K	ENSP00000369865:T341K	T	-	2	0	HAUS6	19053525	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.126000	0.15769	-0.347000	0.08299	-0.777000	0.03380	ACA	.		0.284	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		T	19063525	G	T	19063525	3	4	17	1	0	0	0	0	1	0	0	0	6997	1377	48	3	1457	3	HAUS6	9	19063525	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	14322573	19063525	122149906	83	2330											
TEK	7010	bcgsc.ca	37	9	27212798	27212798	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:27212798C>T	ENST00000380036.4	+	17	3222	c.2780C>T	c.(2779-2781)gCc>gTc	p.A927V	TEK_ENST00000406359.4_Missense_Mutation_p.A884V|TEK_ENST00000519097.1_Missense_Mutation_p.A779V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	927	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)	CCAGCATTTGCCATTGCCAAT	0.587																																					p.A927V													.	TEK	250	0			c.C2780T						.						99	78	85					9																	27212798		2203	4300	6503	SO:0001583	missense	7010	exon17			CATTTGCCATTGC	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.2780C>T	9.37:g.27212798C>T	ENSP00000369375:p.Ala927Val	27	0		17	3	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534602	0.85812	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.68903	-0.36;-0.36;-0.36	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000101	T	0.69708	0.3141	N	0.11000	0.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.988;0.991;0.995	T	0.76361	-0.2987	10	0.72032	D	0.01	.	19.6629	0.95879	0.0:1.0:0.0:0.0	.	779;960;927	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	V	779;927;884	ENSP00000430686:A779V;ENSP00000369375:A927V;ENSP00000383977:A884V	ENSP00000369375:A927V	A	+	2	0	TEK	27202798	1.000000	0.71417	0.998000	0.56505	0.193000	0.23685	5.985000	0.70556	2.726000	0.93360	0.655000	0.94253	GCC	.		0.587	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27212798	C	T	27212798	3	4	17	1	0	0	0	0	1	0	0	0	15798	739	26	3	2846	3	TEK	9	27212798	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	8149273	27212798	114000633	84	2331											
NPR2	4882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	35802530	35802530	+	Missense_Mutation	SNP	C	C	T	rs374250772		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:35802530C>T	ENST00000342694.2	+	11	1996	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	581	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)	CCATCTCACTCGCTTCATTGG	0.413																																					p.R581C		.											.	.	.	0			c.C1741T						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	118	108	111		1741	5.5	1	9		111	0,8600		0,0,4300	no	missense	NPR2	NM_003995.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	581/1048	35802530	1,13005	2203	4300	6503	SO:0001583	missense	4882	exon11			CTCACTCGCTTCA	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.1741C>T	9.37:g.35802530C>T	ENSP00000341083:p.Arg581Cys	15	0		15	5	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265059	0.80358	2.27E-4	0.0	ENSG00000159899	ENST00000342694	T	0.65364	-0.15	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	D	0.000421	D	0.82549	0.5061	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.84847	0.0811	10	0.72032	D	0.01	.	18.4185	0.90579	0.0:1.0:0.0:0.0	.	581;581	P20594-2;P20594	.;ANPRB_HUMAN	C	581	ENSP00000341083:R581C	ENSP00000341083:R581C	R	+	1	0	NPR2	35792530	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	1.227000	0.32576	2.779000	0.95612	0.655000	0.94253	CGC	.		0.413	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35802530	C	T	35802530	3	4	17	1	0	0	0	0	1	0	0	0	10634	884	31	1	1783	1	NPR2	9	35802530	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	8589732	35802530	105410901	85	2332											
TMEM2	23670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	74300266	74300266	+	Silent	SNP	T	T	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:74300266T>C	ENST00000377044.4	-	24	4538	c.3999A>G	c.(3997-3999)tcA>tcG	p.S1333S	TMEM2_ENST00000377066.5_Silent_p.S1270S|TMEM2_ENST00000396272.3_Silent_p.S326S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1333					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)		GCTTAGTCCATGATGGTTTAA	0.378																																					p.S1333S		.											.	.	.	0			c.A3999G						.						73	67	69					9																	74300266		2203	4300	6503	SO:0001819	synonymous_variant	23670	exon24			AGTCCATGATGGT		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.3999A>G	9.37:g.74300266T>C		47	0		38	12	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	CCDS6638.1																																																																																			.		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74300266	T	C	74300266	2	2	17	1	0	0	0	0	0	0	0	1	16168	1451	51	4		4	TMEM2	9	74300266	Silent	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	38497736	74300266	66913165	86	2333											
PTCH1	5727	broad.mit.edu	37	9	98229635	98229635	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:98229635G>T	ENST00000331920.6	-	15	2622	c.2323C>A	c.(2323-2325)Ctg>Atg	p.L775M	PTCH1_ENST00000421141.1_Missense_Mutation_p.L624M|PTCH1_ENST00000375274.2_Missense_Mutation_p.L774M|PTCH1_ENST00000430669.2_Missense_Mutation_p.L709M|PTCH1_ENST00000437951.1_Missense_Mutation_p.L709M|PTCH1_ENST00000429896.2_Missense_Mutation_p.L624M|PTCH1_ENST00000418258.1_Missense_Mutation_p.L624M	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	775					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)				GTAAGGTCCAGCCCGTCTCTC	0.473																																					p.L775M													.	PTCH1	1850	0			c.C2323A						.						94	94	94					9																	98229635		2203	4300	6503	SO:0001583	missense	5727	exon15			GGTCCAGCCCGTC	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.2323C>A	9.37:g.98229635G>T	ENSP00000332353:p.Leu775Met	48	0		40	3	NM_000264	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106875	0.77096	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.94330	-3.39;-3.38;-3.37;-3.37;-3.38;-3.37;-3.4	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.88570	2.965	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	0.97617	1.0133	10	0.72032	D	0.01	-15.3324	14.7134	0.69249	0.0697:0.0:0.9303:0.0	.	709;774;775	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	M	775;709;624;624;211;709;624;774	ENSP00000332353:L775M;ENSP00000389744:L709M;ENSP00000399981:L624M;ENSP00000396135:L624M;ENSP00000410287:L709M;ENSP00000414823:L624M;ENSP00000364423:L774M	ENSP00000332353:L775M	L	-	1	2	PTCH1	97269456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.396000	0.73234	1.425000	0.47237	0.591000	0.81541	CTG	.		0.473	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98229635	G	T	98229635	3	4	17	1	0	0	0	0	1	0	0	0	12772	962	34	3	2056	3	PTCH1	9	98229635	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	23929369	98229635	42983796	87	2334											
RC3H2	54542	hgsc.bcm.edu	37	9	125613429	125613429	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:125613429G>T	ENST00000373670.1	-	19	3911	c.3311C>A	c.(3310-3312)cCa>cAa	p.P1104Q	RC3H2_ENST00000357244.2_Missense_Mutation_p.P1104Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1104					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						CTGCTGTACTGGATGCCCATT	0.388																																					p.P1104Q		.											RC3H2,right_lower_lobe,carcinoma,0,1	RC3H2	0	0			c.C3311A						.						174	167	169					9																	125613429		1951	4152	6103	SO:0001583	missense	54542	exon20			TGTACTGGATGCC	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.3311C>A	9.37:g.125613429G>T	ENSP00000362774:p.Pro1104Gln	45	0		34	2	NM_001100588	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.43|15.43	2.830466|2.830466	0.50845|0.50845	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244|ENST00000454740	T;T|.	0.43688|.	0.94;0.94|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.297846|.	0.29362|.	N|.	0.012378|.	T|T	0.37461|0.37461	0.1004|0.1004	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.32693|.	0.38|.	B|.	0.31869|.	0.137|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.72032|.	D|.	0.01|.	-16.3039|-16.3039	12.6961|12.6961	0.57005|0.57005	0.0776:0.0:0.9224:0.0|0.0776:0.0:0.9224:0.0	.|.	1104|.	Q9HBD1|.	RC3H2_HUMAN|.	Q|K	1104|163	ENSP00000362774:P1104Q;ENSP00000349783:P1104Q|.	ENSP00000349783:P1104Q|.	P|Q	-|-	2|1	0|0	RC3H2|RC3H2	124653250|124653250	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	2.862000|2.862000	0.48388|0.48388	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCA|CAG	.		0.388	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		T	125613429	G	T	125613429	3	4	17	1	0	0	0	0	1	0	0	0	13212	1348	47	3	272	3	RC3H2	9	125613429	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	27383794	125613429	15600002	88	2335											
ADAMTS13	11093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	136305517	136305517	+	Silent	SNP	T	T	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:136305517T>G	ENST00000371929.3	+	16	2283	c.1839T>G	c.(1837-1839)ccT>ccG	p.P613P	ADAMTS13_ENST00000356589.2_Silent_p.P582P|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.P613P|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_Silent_p.P285P	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	613	Spacer.				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)		GCATCTCCCCTAACACCACCT	0.647																																					p.P613P		.											.	.	.	0			c.T1839G						.						132	94	107					9																	136305517		2203	4300	6503	SO:0001819	synonymous_variant	11093	exon16			CTCCCCTAACACC	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.1839T>G	9.37:g.136305517T>G		30	0		25	9	NM_139027	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	CCDS6970.1																																																																																			.		0.647	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		G	136305517	T	G	136305517	2	3	17	1	0	0	0	0	0	0	0	1	258	1509	53	4		4	ADAMTS13	9	136305517	Silent	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	10692088	136305517	4907914	89	2336											
SARDH	1757	hgsc.bcm.edu;bcgsc.ca	37	9	136550380	136550380	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr9:136550380C>T	ENST00000371872.4	-	17	2355	c.2098G>A	c.(2098-2100)Gca>Aca	p.A700T	SARDH_ENST00000439388.1_Missense_Mutation_p.A700T|SARDH_ENST00000371868.1_Missense_Mutation_p.A128T|SARDH_ENST00000422262.2_Missense_Mutation_p.A532T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	700					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)		CTCAGGTCTGCGTCCAGCACC	0.647																																					p.A700T		.											.	.	.	0			c.G2098A						.						101	78	86					9																	136550380		2203	4300	6503	SO:0001583	missense	1757	exon17			GGTCTGCGTCCAG		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.2098G>A	9.37:g.136550380C>T	ENSP00000360938:p.Ala700Thr	58	0		80	5	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	3.432	-0.115925	0.06881	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.27	0.744	0.18353	Glycine cleavage T-protein, N-terminal (1);	0.374478	0.29594	N	0.011719	T	0.67599	0.2910	L	0.33753	1.03	0.48135	D	0.999598	B;B	0.10296	0.003;0.002	B;B	0.11329	0.004;0.006	T	0.50608	-0.8808	10	0.10636	T	0.68	.	6.6805	0.23117	0.0:0.4829:0.0:0.5171	.	700;128	Q9UL12;Q5SYV2	SARDH_HUMAN;.	T	700;128;700;532	ENSP00000360938:A700T;ENSP00000360934:A128T;ENSP00000403084:A700T;ENSP00000415537:A532T	ENSP00000360934:A128T	A	-	1	0	SARDH	135540201	0.001000	0.12720	0.715000	0.30552	0.450000	0.32258	-0.189000	0.09629	0.253000	0.21552	0.462000	0.41574	GCA	.		0.647	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			T	136550380	C	T	136550380	3	4	17	1	0	0	0	0	1	0	0	0	13886	768	27	1	678	1	SARDH	9	136550380	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	244863	136550380	4663051	90	2337											
CSGALNACT2	55454	hgsc.bcm.edu	37	10	43659315	43659315	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr10:43659315G>T	ENST00000374466.3	+	5	1317	c.982G>T	c.(982-984)Gag>Tag	p.E328*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	328					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						TCCTCATAGTGAGTCTAATTT	0.383																																					p.E328X		.											.	.	.	0			c.G982T						.						156	140	145					10																	43659315		2203	4300	6503	SO:0001630	splice_region_variant	55454	exon5			CATAGTGAGTCTA	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.981-1G>T	10.37:g.43659315G>T		46	0		57	4	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	41	8.792463	0.98956	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	6.08	0.98989	.	0.042681	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-17.655	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	328	.	ENSP00000363590:E328X	E	+	1	0	CSGALNACT2	42979321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.135000	0.94478	2.894000	0.99253	0.591000	0.81541	GAG	.		0.383	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	Nonsense_Mutation	T	43659315	G	T	43659315	5	4	17	1	0	0	0	0	0	0	1	0	3948	1304	45	3	996	3	CSGALNACT2	10	43659315	Splice_Site	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09		43659315	91875432	91	2338											
MYPN	84665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	69881563	69881563	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr10:69881563G>A	ENST00000358913.5	+	2	856	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	MYPN_ENST00000373675.3_Missense_Mutation_p.R123Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R123Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	123	Interaction with CARP.				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)			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						GATAACCCTCGAAGTCCCACC	0.433																																					p.R123Q		.											MYPN,NS,carcinoma,0,1	MYPN	0	0			c.G368A						.						43	42	43					10																	69881563		2203	4300	6503	SO:0001583	missense	84665	exon2			ACCCTCGAAGTCC	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.368G>A	10.37:g.69881563G>A	ENSP00000351790:p.Arg123Gln	88	0		96	25	NM_032578	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	5.881	0.346645	0.11126	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.61040	0.5;0.48;0.14	6.03	-12.1	0.00011	.	1.186290	0.05748	N	0.602629	T	0.35128	0.0921	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.16394	-1.0404	9	.	.	.	.	12.2188	0.54423	0.5278:0.256:0.2162:0.0	.	123;123	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	Q	123	ENSP00000351790:R123Q;ENSP00000441668:R123Q;ENSP00000362779:R123Q	.	R	+	2	0	MYPN	69551569	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	-1.256000	0.02869	-2.908000	0.00309	-0.768000	0.03414	CGA	.		0.433	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		A	69881563	G	A	69881563	3	1	17	1	0	0	0	0	1	0	0	0	10136	1058	37	1	370	1	MYPN	10	69881563	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	26222248	69881563	65653184	92	2339											
LDB3	11155	hgsc.bcm.edu	37	10	88477868	88477868	+	Silent	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr10:88477868G>T	ENST00000361373.4	+	10	1845	c.1824G>T	c.(1822-1824)ccG>ccT	p.P608P	LDB3_ENST00000429277.2_Silent_p.P613P|LDB3_ENST00000458213.2_Silent_p.P498P|LDB3_ENST00000263066.6_Silent_p.P498P|LDB3_ENST00000352360.5_Silent_p.P351P	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						TCTTTGCCCCGCTGTGTGCCA	0.522																																					p.P613P		.											LDB3_ENST00000429277,NS,carcinoma,0,2	LDB3_ENST00000429277	0	0			c.G1839T						.						147	134	138					10																	88477868		2203	4300	6503	SO:0001819	synonymous_variant	11155	exon11			TGCCCCGCTGTGT	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.1824G>T	10.37:g.88477868G>T		21	0		32	2	NM_001171610		Silent	SNP	ENST00000361373.4	37	CCDS7377.1																																																																																			.		0.522	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			T	88477868	G	T	88477868	2	4	17	1	0	0	0	0	0	0	0	1	8725	1074	38	2		2	LDB3	10	88477868	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	18596305	88477868	47056879	93	2340											
FAM35A	54537	broad.mit.edu	37	10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	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)												FAM35A,NS,carcinoma,0,3	FAM35A	48	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C719A						.						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	195	1		200	4	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	.		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		A	88911830	C	A	88911830	3	1	17	1	0	0	0	0	1	0	0	0	5575	478	17	3	721	3	FAM35A	10	88911830	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	433962	88911830	46622917	94	2341											
XPNPEP1	7511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	111674853	111674853	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr10:111674853T>A	ENST00000502935.1	-	2	156	c.37A>T	c.(37-39)Aat>Tat	p.N13Y	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.N13Y|XPNPEP1_ENST00000369683.1_Intron					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCCTGGTGATTCACCCTTAAG	0.418																																					p.N13Y		.											.	.	.	0			c.A37T						.						147	125	131					10																	111674853		692	1591	2283	SO:0001583	missense	7511	exon2			GGTGATTCACCCT		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.37A>T	10.37:g.111674853T>A	ENSP00000421566:p.Asn13Tyr	41	0		42	11	NM_001167604		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716617	0.15306	.	.	ENSG00000108039	ENST00000502935;ENST00000322238	.	.	.	5.63	4.43	0.53597	.	.	.	.	.	T	0.21631	0.0521	N	0.17082	0.46	0.36122	D	0.845538	B;P	0.47191	0.38;0.891	B;B	0.38056	0.135;0.264	T	0.09378	-1.0677	8	0.13108	T	0.6	.	9.3078	0.37885	0.0:0.0:0.1808:0.8191	.	13;13	B4E2P4;G5E9Y2	.;.	Y	13	.	ENSP00000324011:N13Y	N	-	1	0	XPNPEP1	111664843	0.006000	0.16342	0.015000	0.15790	0.125000	0.20455	0.814000	0.27239	2.270000	0.75569	0.482000	0.46254	AAT	.		0.418	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			A	111674853	T	A	111674853	3	1	17	1	0	0	0	0	1	0	0	0	17491	1783	62	5	2043	5	XPNPEP1	10	111674853	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	22763023	111674853	23859894	95	2342											
SMC3	9126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	112352927	112352927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr10:112352927G>T	ENST00000361804.4	+	18	2035	c.1909G>T	c.(1909-1911)Gaa>Taa	p.E637*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	637	Flexible hinge.				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)		TCGTAGCATGGAAGTTTCAAC	0.368																																					p.E637X		.											.	.	.	0			c.G1909T						.						103	95	97					10																	112352927		2203	4300	6503	SO:0001587	stop_gained	9126	exon18			AGCATGGAAGTTT	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.1909G>T	10.37:g.112352927G>T	ENSP00000354720:p.Glu637*	47	0		59	20	NM_005445	A8K156|O60464|Q5T482	Nonsense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	40	8.023481	0.98616	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.0294	0.92950	0.0:0.0:1.0:0.0	.	.	.	.	X	637	.	ENSP00000354720:E637X	E	+	1	0	SMC3	112342917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.682000	0.98655	2.569000	0.86673	0.585000	0.79938	GAA	.		0.368	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		T	112352927	G	T	112352927	4	4	17	1	0	0	0	0	0	1	0	0	14829	1175	41	3	1979	3	SMC3	10	112352927	Nonsense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	678074	112352927	23181820	96	2343											
OR52I1	390037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	4615690	4615690	+	Missense_Mutation	SNP	C	C	A	rs202168611		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:4615690C>A	ENST00000530443.2	+	1	422	c.422C>A	c.(421-423)aCg>aAg	p.T141K	OR52I1_ENST00000450052.2_Missense_Mutation_p.T165K	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T166R(1)		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)		AGAATTCTCACGCCTCAAGTG	0.512																																					p.T141K		.											OR52I1,NS,carcinoma,0,1	OR52I1	0	1	Substitution - Missense(1)	lung(1)	c.C422A						.						78	72	74					11																	4615690		2201	4298	6499	SO:0001583	missense	390037	exon1			TTCTCACGCCTCA	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.422C>A	11.37:g.4615690C>A	ENSP00000436453:p.Thr141Lys	32	0		25	8	NM_001005169	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914109	0.33815	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.00388	7.59;7.59	4.96	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000314	T	0.00524	0.0017	M	0.87827	2.91	0.29542	N	0.852038	P	0.35481	0.504	B	0.36808	0.233	T	0.15292	-1.0442	9	0.87932	D	0	-12.5133	11.5906	0.50943	0.0:0.8206:0.1794:0.0	.	141	Q8NGK6	O52I1_HUMAN	K	165;141	ENSP00000409094:T165K;ENSP00000436453:T141K	ENSP00000409094:T165K	T	+	2	0	OR52I1	4572266	0.012000	0.17670	0.987000	0.45799	0.544000	0.35116	0.134000	0.15932	1.451000	0.47736	-0.273000	0.10243	ACG	.		0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		A	4615690	C	A	4615690	3	1	17	1	0	0	0	0	1	0	0	0	11159	536	19	2	424	2	OR52I1	11	4615690	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		4615690	130390826	97	2344											
OR52E8	390079	hgsc.bcm.edu	37	11	5878458	5878458	+	Silent	SNP	G	G	A	rs549924845	byFrequency	TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	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	5008	,	,		18808	0		0	False		,,,				2504	0.001				p.L159L		.											OR52E8,NS,carcinoma,0,1	OR52E8	0	0			c.C475T						.						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		33	1		42	2	NM_001005168	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																			.		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878458	G	A	5878458	2	1	17	1	0	0	0	0	0	0	0	1	11157	991	35	3		3	OR52E8	11	5878458	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1262768	5878458	129128058	98	2345											
DENND5A	23258	hgsc.bcm.edu;bcgsc.ca	37	11	9192183	9192183	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:9192183G>A	ENST00000328194.3	-	9	2368	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	DENND5A_ENST00000527700.1_Missense_Mutation_p.A26V|DENND5A_ENST00000530044.1_Missense_Mutation_p.A683V	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	683					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						CTTGTTGCTGGCTGGCCCAGT	0.493																																					p.A683V		.											.	.	.	0			c.C2048T						.						139	136	137					11																	9192183		2201	4296	6497	SO:0001583	missense	23258	exon9			TTGCTGGCTGGCC	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.2048C>T	11.37:g.9192183G>A	ENSP00000328524:p.Ala683Val	53	0		66	4	NM_015213	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955197	0.53293	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.17528	3.76;3.75;2.27	5.7	3.28	0.37604	.	0.267047	0.42964	N	0.000629	T	0.09202	0.0227	N	0.08118	0	0.49798	D	0.999825	B;B	0.20164	0.012;0.042	B;B	0.29524	0.011;0.103	T	0.19257	-1.0311	10	0.15499	T	0.54	.	11.8719	0.52525	0.136:0.0:0.864:0.0	.	683;683	E9PS91;Q6IQ26	.;DEN5A_HUMAN	V	683;683;26	ENSP00000328524:A683V;ENSP00000435866:A683V;ENSP00000432549:A26V	ENSP00000328524:A683V	A	-	2	0	DENND5A	9148759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.431000	0.59915	1.269000	0.44280	0.561000	0.74099	GCC	.		0.493	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		A	9192183	G	A	9192183	3	1	17	1	0	0	0	0	1	0	0	0	4450	1203	42	3	1875	3	DENND5A	11	9192183	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	3313725	9192183	125814333	99	2346											
NAV2	89797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	19890524	19890524	+	Silent	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:19890524C>A	ENST00000396087.3	+	4	591	c.492C>A	c.(490-492)atC>atA	p.I164I	NAV2_ENST00000396085.1_Silent_p.I164I|NAV2_ENST00000349880.4_Silent_p.I164I|NAV2_ENST00000360655.4_Silent_p.I100I|NAV2_ENST00000527559.2_Silent_p.I93I|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Silent_p.I95I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	164	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						GAATAAACATCCAGGGGCTGT	0.413																																					p.I164I		.											.	.	.	0			c.C492A						.						71	68	69					11																	19890524		2199	4293	6492	SO:0001819	synonymous_variant	89797	exon4			AAACATCCAGGGG	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.492C>A	11.37:g.19890524C>A		16	0		21	7	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																																																																																			.		0.413	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	19890524	C	A	19890524	2	1	17	1	0	0	0	0	0	0	0	1	10222	845	30	3		3	NAV2	11	19890524	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	10698341	19890524	115115992	100	2347											
MS4A10	341116	hgsc.bcm.edu	37	11	60561564	60561564	+	Silent	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:60561564C>T	ENST00000308287.1	+	5	576	c.480C>T	c.(478-480)taC>taT	p.Y160Y		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	160						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GGAGAATGTACCCCAACTCCA	0.552																																					p.Y160Y		.											MS4A10,NS,carcinoma,0,1	MS4A10	0	0			c.C480T						.						96	89	91					11																	60561564		2203	4299	6502	SO:0001819	synonymous_variant	341116	exon5			AATGTACCCCAAC	AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.480C>T	11.37:g.60561564C>T		35	0		47	2	NM_206893	B2RP45|Q96PG3	Silent	SNP	ENST00000308287.1	37	CCDS7992.1																																																																																			.		0.552	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893		T	60561564	C	T	60561564	2	4	17	1	0	0	0	0	0	0	0	1	9893	518	18	3		3	MS4A10	11	60561564	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	40671040	60561564	74444952	101	2348											
STIP1	10963	hgsc.bcm.edu	37	11	63965024	63965024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:63965024G>T	ENST00000305218.4	+	7	1006	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	STIP1_ENST00000538945.1_Nonsense_Mutation_p.E263*|STIP1_ENST00000358794.5_Nonsense_Mutation_p.E334*	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	287					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E287*(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAAGGCCATTGAAGTGGGGAG	0.498																																					p.E287X		.											STIP1,rectum,carcinoma,0,1	STIP1	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.G859T						.						67	69	69					11																	63965024		2201	4297	6498	SO:0001587	stop_gained	10963	exon7			GCCATTGAAGTGG	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.859G>T	11.37:g.63965024G>T	ENSP00000305958:p.Glu287*	23	0		24	2	NM_006819	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Nonsense_Mutation	SNP	ENST00000305218.4	37	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	37	6.281134	0.97440	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	.	.	.	5.73	5.73	0.89815	.	0.199495	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-24.2585	19.059	0.93080	0.0:0.0:1.0:0.0	.	.	.	.	X	334;287;263	.	ENSP00000305958:E287X	E	+	1	0	STIP1	63721600	1.000000	0.71417	0.961000	0.40146	0.851000	0.48451	7.320000	0.79064	2.882000	0.98803	0.655000	0.94253	GAA	.		0.498	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		T	63965024	G	T	63965024	4	4	17	1	0	0	0	0	0	1	0	0	15332	1291	45	3	885	3	STIP1	11	63965024	Nonsense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	3403460	63965024	71041492	102	2349											
CATSPER1	117144	ucsc.edu;bcgsc.ca	37	11	65792768	65792768	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:65792768G>T	ENST00000312106.5	-	1	1220	c.1083C>A	c.(1081-1083)caC>caA	p.H361Q		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	361					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						GAGTCATGCTGTGAGCCGAGC	0.572																																					p.H361Q													.	CATSPER1	101	0			c.C1083A						.						132	106	115					11																	65792768		2201	4296	6497	SO:0001583	missense	117144	exon1			CATGCTGTGAGCC	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.1083C>A	11.37:g.65792768G>T	ENSP00000309052:p.His361Gln	38	0		42	4	NM_053054	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	4.326	0.059900	0.08339	.	.	ENSG00000175294	ENST00000312106	D	0.96885	-4.16	1.53	1.53	0.23141	.	.	.	.	.	D	0.91446	0.7300	L	0.42245	1.32	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.80054	-0.1543	9	0.10902	T	0.67	.	6.5148	0.22242	0.0:0.0:1.0:0.0	.	361	Q8NEC5	CTSR1_HUMAN	Q	361	ENSP00000309052:H361Q	ENSP00000309052:H361Q	H	-	3	2	CATSPER1	65549344	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-2.030000	0.01429	1.197000	0.43143	0.460000	0.39030	CAC	.		0.572	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		T	65792768	G	T	65792768	3	4	17	1	0	0	0	0	1	0	0	0	2694	1368	48	3	1307	3	CATSPER1	11	65792768	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1827744	65792768	69213748	103	2350											
DPP3	10072	hgsc.bcm.edu;broad.mit.edu	37	11	66258758	66258758	+	Silent	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:66258758G>A	ENST00000360510.2	+	7	767	c.702G>A	c.(700-702)ctG>ctA	p.L234L	DPP3_ENST00000532677.1_Silent_p.L253L|DPP3_ENST00000541961.1_Silent_p.L234L|DPP3_ENST00000530165.1_Silent_p.L204L|DPP3_ENST00000531863.1_Silent_p.L254L|DPP3_ENST00000453114.1_Silent_p.L234L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	234					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCCAAGCTGAAGAGCTATG	0.562											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L234L		.											.	.	.	0			c.G702A						.						72	78	76					11																	66258758		2200	4295	6495	SO:0001819	synonymous_variant	10072	exon7			CAAGCTGAAGAGC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.702G>A	11.37:g.66258758G>A		17	0	1090	80	8	NM_130443	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	CCDS8141.1																																																																																			.		0.562	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			A	66258758	G	A	66258758	2	1	17	1	0	0	0	0	0	0	0	1	4742	1277	45	3		3	DPP3	11	66258758	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	465990	66258758	68747758	104	2351											
LRFN4	78999	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	66625573	66625573	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:66625573G>A	ENST00000309602.4	+	1	601	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.V120I|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	120						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCGGGGCCCCGTCAATCTGCA	0.682																																					p.V120I		.											.	.	.	0			c.G358A						.						38	45	43					11																	66625573		2198	4293	6491	SO:0001583	missense	78999	exon1			GGCCCCGTCAATC	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.358G>A	11.37:g.66625573G>A	ENSP00000312535:p.Val120Ile	29	0		119	9	NM_024036	Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	4.153	0.026849	0.08054	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.57107	0.42;0.42	4.17	-0.961	0.10337	.	0.690856	0.12584	N	0.456144	T	0.31918	0.0812	N	0.19112	0.55	0.23271	N	0.998004	B;B	0.15473	0.013;0.003	B;B	0.18263	0.021;0.013	T	0.21827	-1.0234	10	0.21014	T	0.42	.	8.5007	0.33156	0.4752:0.0:0.5248:0.0	.	120;120	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	I	120	ENSP00000377524:V120I;ENSP00000312535:V120I	ENSP00000312535:V120I	V	+	1	0	LRFN4	66382149	0.000000	0.05858	0.889000	0.34880	0.173000	0.22820	-1.809000	0.01731	-0.059000	0.13154	-0.680000	0.03767	GTC	.		0.682	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		A	66625573	G	A	66625573	3	1	17	1	0	0	0	0	1	0	0	0	8975	1145	40	1	360	1	LRFN4	11	66625573	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	366815	66625573	68380943	105	2352											
FOLR3	2352	hgsc.bcm.edu	37	11	71850156	71850156	+	Missense_Mutation	SNP	C	C	A	rs139130389	byFrequency	TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:71850156C>A	ENST00000445078.2	+	3	511	c.440C>A	c.(439-441)tCt>tAt	p.S147Y	FOLR3_ENST00000456237.1_Missense_Mutation_p.S149Y|FOLR3_ENST00000442948.2_Splice_Site_p.L106L			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	105					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACAGCTGTCTCTGAGTGCTCA	0.567																																					.		.											.	.	.	0			.						.						40	46	44					11																	71850156		2200	4293	6493	SO:0001583	missense	2352	p.S149Y			CTGTCTCTGAGTG	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.440C>A	11.37:g.71850156C>A	ENSP00000390338:p.Ser147Tyr	64	0		110	4	.	J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|N	0.001|0.001	-23.225135|-23.225135	0.00000|0.00000	.|.	.|.	ENSG00000110203|ENSG00000110203	ENST00000442948|ENST00000445078;ENST00000456237	.|T;T	.|0.73575	.|-0.76;-0.76	3.21|3.21	-0.263|-0.263	0.12954|0.12954	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49626	.|0.1568	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.16802	.|0.019	.|B	.|0.15484	.|0.013	.|T	.|0.45308	.|-0.9270	.|8	.|0.02654	.|T	.|1	.|.	12.496|12.496	0.55929|0.55929	0.0:0.5007:0.4993:0.0|0.0:0.5007:0.4993:0.0	.|.	.|149	.|E9PGT2	.|.	.|Y	-1|147;149	.|ENSP00000390338:S147Y;ENSP00000399235:S149Y	.|ENSP00000390338:S147Y	.|S	+|+	.|2	.|0	FOLR3|FOLR3	71527804|71527804	0.100000|0.100000	0.21855|0.21855	0.962000|0.962000	0.40283|0.40283	0.074000|0.074000	0.17049|0.17049	-0.481000|-0.481000	0.06552|0.06552	-0.155000|-0.155000	0.11098|0.11098	-0.282000|-0.282000	0.10007|0.10007	.|TCT	.		0.567	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		A	71850156	C	A	71850156	3	1	17	1	0	0	0	0	1	0	0	0	6005	900	32	3	324	3	FOLR3	11	71850156	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	5224583	71850156	63156360	106	2353											
PDGFD	80310	hgsc.bcm.edu	37	11	103814350	103814350	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:103814350G>A	ENST00000393158.2	-	5	781	c.602C>T	c.(601-603)aCg>aTg	p.T201M	PDGFD_ENST00000302251.5_Missense_Mutation_p.T195M|RP11-617B3.2_ENST00000527804.1_RNA			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	201					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)		p.T201M(2)		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)		AGTGGGATCCGTTACTGATGG	0.413																																					p.T201M		.											PDGFD_ENST00000393158,colon,carcinoma,0,2	PDGFD_ENST00000393158	0	2	Substitution - Missense(2)	large_intestine(2)	c.C602T						.						81	70	74					11																	103814350		2202	4299	6501	SO:0001583	missense	80310	exon5			GGATCCGTTACTG	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.602C>T	11.37:g.103814350G>A	ENSP00000376865:p.Thr201Met	40	0		43	2	NM_025208	A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321767	0.60634	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.27256	1.68;1.68	5.53	5.53	0.82687	.	0.167413	0.52532	D	0.000063	T	0.25269	0.0614	L	0.49350	1.555	0.58432	D	0.999999	B;P	0.43352	0.272;0.804	B;B	0.34536	0.036;0.185	T	0.02958	-1.1089	10	0.33940	T	0.23	-12.7101	19.823	0.96605	0.0:0.0:1.0:0.0	.	201;195	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	M	201;195	ENSP00000376865:T201M;ENSP00000302193:T195M	ENSP00000302193:T195M	T	-	2	0	PDGFD	103319560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.384000	0.66225	2.770000	0.95276	0.650000	0.86243	ACG	.		0.413	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		A	103814350	G	A	103814350	3	1	17	1	0	0	0	0	1	0	0	0	11699	1145	40	1	522	1	PDGFD	11	103814350	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	31964194	103814350	31192166	107	2354											
OR10G9	219870	hgsc.bcm.edu	37	11	123893737	123893737	+	Silent	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr11:123893737C>A	ENST00000375024.1	+	1	18	c.18C>A	c.(16-18)ctC>ctA	p.L6L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L6L(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)		AGACCAGCCTCGTGACAGCGT	0.532																																					p.L6L		.											OR10G9,NS,carcinoma,0,1	OR10G9	0	1	Substitution - coding silent(1)	lung(1)	c.C18A						.						154	147	150					11																	123893737		2201	4299	6500	SO:0001819	synonymous_variant	219870	exon1			CAGCCTCGTGACA	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.18C>A	11.37:g.123893737C>A		64	1		40	4	NM_001001953		Silent	SNP	ENST00000375024.1	37	CCDS31703.1																																																																																			.		0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		A	123893737	C	A	123893737	2	1	17	1	0	0	0	0	0	0	0	1	10943	871	31	2		2	OR10G9	11	123893737	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	20079387	123893737	11112779	108	2355											
DCP1B	196513	hgsc.bcm.edu	37	12	2062323	2062323	+	Silent	SNP	T	T	C	rs149912567|rs71057810|rs111543431|rs373461041		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:2062323T>C	ENST00000280665.6	-	7	862	c.783A>G	c.(781-783)caA>caG	p.Q261Q	DCP1B_ENST00000397173.4_Silent_p.Q159Q|DCP1B_ENST00000540622.1_Silent_p.Q135Q|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	261	Poly-Gln.				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)	p.Q261_E262insQ(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGCTTCTCTtgctgctgct	0.557																																					p.Q261Q		.											.,4	.	63	2	Insertion - In frame(2)	breast(1)|kidney(1)	c.A783G						.						38	43	42					12																	2062323		2203	4300	6503	SO:0001819	synonymous_variant	196513	exon7			CTTCTCTTGCTGC	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.783A>G	12.37:g.2062323T>C		41	0		35	3	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																			.		0.557	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2062323	T	C	2062323	2	2	17	1	0	0	0	0	0	0	0	1	4308	1606	56	4		4	DCP1B	12	2062323	Silent	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09		2062323	131789572	109	2356											
TAS2R30	259293	hgsc.bcm.edu	37	12	11286072	11286072	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:11286072G>T	ENST00000539585.1	-	1	1171	c.772C>A	c.(772-774)Caa>Aaa	p.Q258K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	258					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						AAGACAGGTTGCTTTTCCAGC	0.388																																					p.Q258K		.											TAS2R30,NS,carcinoma,0,1	TAS2R30	0	0			c.C772A						.						133	143	139					12																	11286072		2202	4299	6501	SO:0001583	missense	259293	exon1			CAGGTTGCTTTTC	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.772C>A	12.37:g.11286072G>T	ENSP00000444736:p.Gln258Lys	101	2		112	8	NM_001097643	Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.273469	0.00257	.	.	ENSG00000256188	ENST00000539585	T	0.00655	5.95	2.04	-4.08	0.03963	.	.	.	.	.	T	0.00178	0.0005	N	0.00035	-2.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41963	-0.9479	9	0.02654	T	1	.	3.9342	0.09299	0.0:0.3445:0.1912:0.4643	.	258	P59541	T2R30_HUMAN	K	258	ENSP00000444736:Q258K	ENSP00000444736:Q258K	Q	-	1	0	TAS2R30	11177339	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.866000	0.01647	-1.098000	0.03038	-0.875000	0.02981	CAA	.		0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		T	11286072	G	T	11286072	3	4	17	1	0	0	0	0	1	0	0	0	15620	1328	46	3	191	3	TAS2R30	12	11286072	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	9223749	11286072	122565823	110	2357											
GYS2	2998	hgsc.bcm.edu	37	12	21711151	21711151	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:21711151G>T	ENST00000261195.2	-	11	1659	c.1405C>A	c.(1405-1407)Cgc>Agc	p.R469S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	469					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						CTATCTGTGCGGTTGTTGAAA	0.413																																					p.R469S	Colon(149;9 1820 3690 10544 50424)	.											GYS2,NS,carcinoma,0,2	GYS2	0	0			c.C1405A						.						148	126	133					12																	21711151		2203	4300	6503	SO:0001583	missense	2998	exon11			CTGTGCGGTTGTT		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.1405C>A	12.37:g.21711151G>T	ENSP00000261195:p.Arg469Ser	39	0		47	2	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219338	0.01542	.	.	ENSG00000111713	ENST00000261195	T	0.62639	0.01	4.56	3.65	0.41850	.	0.058335	0.64402	N	0.000002	T	0.45256	0.1333	L	0.31157	0.91	0.42490	D	0.992895	B	0.13145	0.007	B	0.24155	0.051	T	0.32534	-0.9903	10	0.05436	T	0.98	-16.4295	12.2001	0.54319	0.0:0.0:0.6899:0.3101	.	469	P54840	GYS2_HUMAN	S	469	ENSP00000261195:R469S	ENSP00000261195:R469S	R	-	1	0	GYS2	21602418	1.000000	0.71417	0.051000	0.19133	0.129000	0.20672	3.903000	0.56318	1.258000	0.44101	0.655000	0.94253	CGC	.		0.413	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		T	21711151	G	T	21711151	3	4	17	1	0	0	0	0	1	0	0	0	6940	1116	39	2	730	2	GYS2	12	21711151	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	10425079	21711151	112140744	111	2358											
LIMA1	51474	ucsc.edu;bcgsc.ca	37	12	50625494	50625494	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:50625494C>T	ENST00000341247.4	-	3	269		c.e3-1		LIMA1_ENST00000394943.3_Splice_Site|RP3-405J10.4_ENST00000551284.1_RNA|MIR1293_ENST00000408677.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1						actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTCTGGTACCTTCAGAGAAG	0.368																																					.													.	LIMA1	67	0			c.120-1G>A						.						152	140	144					12																	50625494		2203	4300	6503	SO:0001630	splice_region_variant	51474	exon4			TGGTACCTTCAGA	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.120-1G>A	12.37:g.50625494C>T		32	0		34	4	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Splice_Site	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611504	0.66558	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5828	0.76459	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIMA1	48911761	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.039000	0.57325	2.532000	0.85374	0.591000	0.81541	.	.		0.368	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	Intron	T	50625494	C	T	50625494	5	4	17	1	0	0	0	0	0	0	1	0	8825	695	24	3	2199	3	LIMA1	12	50625494	Splice_Site	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	28914343	50625494	83226401	112	2359											
KRT7	3855	hgsc.bcm.edu	37	12	52629096	52629096	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:52629096G>A	ENST00000331817.5	+	2	665	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	161	Coil 1B.|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)	GATGGGGGCCGCCTGGAGGCG	0.627																																					p.R161H		.											.	.	.	0			c.G482A						.						47	53	51					12																	52629096		2203	4300	6503	SO:0001583	missense	3855	exon2			GGGGCCGCCTGGA		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.482G>A	12.37:g.52629096G>A	ENSP00000329243:p.Arg161His	18	0		89	4	NM_005556	Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822532	0.50739	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.90563	-2.69	4.6	2.77	0.32553	Filament (1);	0.000000	0.36167	N	0.002746	D	0.89241	0.6659	M	0.86178	2.8	0.39292	D	0.964743	B;P	0.38167	0.187;0.621	B;B	0.34652	0.105;0.187	D	0.87941	0.2717	10	0.87932	D	0	.	8.1219	0.30976	0.2442:0.0:0.7558:0.0	.	161;161	F8VZY5;P08729	.;K2C7_HUMAN	H	161;161;137;161	ENSP00000329243:R161H	ENSP00000329243:R161H	R	+	2	0	KRT7	50915363	0.443000	0.25641	0.999000	0.59377	0.989000	0.77384	3.677000	0.54619	0.678000	0.31325	0.655000	0.94253	CGC	.		0.627	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		A	52629096	G	A	52629096	3	1	17	1	0	0	0	0	1	0	0	0	8510	1087	38	1	488	1	KRT7	12	52629096	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	2003602	52629096	81222799	113	2360											
NACA	4666	hgsc.bcm.edu	37	12	57113583	57113583	+	Silent	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:57113583G>T	ENST00000454682.1	-	3	2012	c.1731C>A	c.(1729-1731)tcC>tcA	p.S577S	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Silent_p.S577S|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	577	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						CTGGAGAAGAGGATGTACTTT	0.512			T	BCL6	NHL																																p.S577S		.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	NACA_ENST00000550952,NS,carcinoma,0,2	NACA_ENST00000550952	0	0			c.C1731A						.						61	60	60					12																	57113583		1568	3582	5150	SO:0001819	synonymous_variant	4666	exon3			AGAAGAGGATGTA	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.1731C>A	12.37:g.57113583G>T		41	0		43	2	NM_001113203		Silent	SNP	ENST00000454682.1	37																																																																																				.		0.512	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		T	57113583	G	T	57113583	2	4	17	1	0	0	0	0	0	0	0	1	10171	987	35	3		3	NACA	12	57113583	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	4484487	57113583	76738312	114	2361											
AGAP2	100130776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	58121322	58121322	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:58121322G>C	ENST00000542466.2	+	2	683	c.547G>C	c.(547-549)Gat>Cat	p.D183H	AGAP2_ENST00000547588.1_Missense_Mutation_p.I967M|AGAP2_ENST00000257897.3_Missense_Mutation_p.I611M|RP11-571M6.8_ENST00000548410.2_RNA					AGAP2 antisense RNA 1									p.I611I(1)									CAGAACACTCGATGCAGATGA	0.672																																					p.I967M		.											AGAP2,colon,carcinoma,0,1	AGAP2	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C2901G						.						73	69	71					12																	58121322		2203	4300	6503	SO:0001583	missense	116986	exon17			ACACTCGATGCAG	BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"Long non-coding RNAs"	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.547G>C	12.37:g.58121322G>C	ENSP00000437523:p.Asp183His	33	0		416	38	NM_001122772		Missense_Mutation	SNP	ENST00000542466.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.35|16.35|16.35	3.097608|3.097608|3.097608	0.56075|0.56075|0.56075	.|.|.	.|.|.	ENSG00000255737|ENSG00000135439|ENSG00000135439	ENST00000542466|ENST00000257897;ENST00000547588|ENST00000328568	.|T;T|.	.|0.50001|.	.|0.76;0.76|.	5.0|5.0|5.0	4.09|4.09|4.09	0.47781|0.47781|0.47781	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.72645|0.72645|0.72645	0.3486|0.3486|0.3486	M|M|M	0.84219|0.84219|0.84219	2.685|2.685|2.685	0.58432|0.58432|0.58432	D|D|D	0.999992|0.999992|0.999992	D|D;D;D|.	0.89917|0.89917|.	1.0|1.0;1.0;1.0|.	D|D;D;D|.	0.76071|0.97110|.	0.987|0.998;0.999;1.0|.	T|T|T	0.74293|0.74293|0.74293	-0.3712|-0.3712|-0.3712	8|10|5	0.87932|0.87932|.	D|D|.	0|0|.	.|.|.	7.323|7.323|7.323	0.26539|0.26539|0.26539	0.2383:0.0:0.7617:0.0|0.2383:0.0:0.7617:0.0|0.2383:0.0:0.7617:0.0	.|.|.	183|611;967;967|.	B7Z718|Q99490-2;F8VVT9;Q99490|.	.|.;.;AGAP2_HUMAN|.	H|M|G	183|611;967|811	.|ENSP00000257897:I611M;ENSP00000449241:I967M|.	ENSP00000437523:D183H|ENSP00000257897:I611M|.	D|I|R	+|-|-	1|3|1	0|3|2	RP11-571M6.6|AGAP2|AGAP2	56407589|56407589|56407589	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	0.505000|0.505000|0.505000	0.22642|0.22642|0.22642	2.480000|2.480000|2.480000	0.83734|0.83734|0.83734	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|ATC|CGA	.		0.672	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1			C	58121322	G	C	58121322	3	2	17	1	0	0	0	0	1	0	0	0	368	1048	37	5	689	5	AGAP2	12	58121322	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1007739	58121322	75730573	115	2362											
AGAP2	116986	broad.mit.edu	37	12	58131300	58131302	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:58131300_58131302delCGG	ENST00000547588.1	-	1	727_729	c.728_730delCCG	c.(727-732)gccggg>ggg	p.A243del	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	243					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						CCCCCTCCCCcggcggcggcggc	0.685																																					p.243_244del													.	AGAP2	167	0			c.728_730del						.																																			SO:0001651	inframe_deletion	116986	exon1			CTCCCCCGGCGGC	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.728_730delCCG	12.37:g.58131309_58131311delCGG	ENSP00000449241:p.Ala243del	34	0		377	5	NM_001122772	A8K9F7|O00578|Q548E0|Q8IWU3	In_Frame_Del	DEL	ENST00000547588.1	37	CCDS44932.1																																																																																			.		0.685	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		-	58131302	CGG	-	58131300	7	5	17	1	0	1	0	1	0	0	0	0	368	652	23	0	2924	0	AGAP2	12	58131300	In_Frame_Del	DEL	CGG	TCGA-W5-AA2X-01A-11D-A417-09	9978	58131300	75720595	116	2363											
NAP1L1	4673	hgsc.bcm.edu	37	12	76449901	76449901	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:76449901T>C	ENST00000261182.8	-	7	956	c.470A>G	c.(469-471)aAa>aGa	p.K157R	NAP1L1_ENST00000535020.2_Missense_Mutation_p.K157R|NAP1L1_ENST00000549596.1_Missense_Mutation_p.K157R|NAP1L1_ENST00000393263.3_Missense_Mutation_p.K157R|NAP1L1_ENST00000547993.1_5'UTR|NAP1L1_ENST00000548044.1_Missense_Mutation_p.K116R|NAP1L1_ENST00000431879.3_Missense_Mutation_p.K89R|NAP1L1_ENST00000547773.1_Missense_Mutation_p.K94R|NAP1L1_ENST00000552342.1_Missense_Mutation_p.K168R|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.K115R	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	157					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)				TTCTTCATCTTTTTTCTCATC	0.323																																					p.K157R		.											NAP1L1,NS,carcinoma,0,1	NAP1L1	0	0			c.A470G						.						66	62	63					12																	76449901		2202	4299	6501	SO:0001583	missense	4673	exon7			TCATCTTTTTTCT		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.470A>G	12.37:g.76449901T>C	ENSP00000261182:p.Lys157Arg	16	0		36	3	NM_004537	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606596	0.66445	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273;ENST00000551600;ENST00000547704	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	6.05	4.91	0.64330	.	0.041854	0.85682	D	0.000000	T	0.35008	0.0917	M	0.66939	2.045	0.54753	D	0.999985	P;P;P;P;B;B;B	0.41188	0.696;0.741;0.523;0.578;0.221;0.066;0.061	B;P;B;P;B;B;B	0.48334	0.438;0.574;0.358;0.574;0.091;0.033;0.063	T	0.07177	-1.0786	10	0.18710	T	0.47	.	11.8846	0.52594	0.0:0.0684:0.0:0.9316	.	157;115;168;157;89;94;157	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	R	157;151;157;89;94;115;157;157;168;116;130;157;116;163;164	ENSP00000261182:K157R;ENSP00000450236:K151R;ENSP00000376947:K157R;ENSP00000409795:K89R;ENSP00000448167:K94R;ENSP00000444759:K115R;ENSP00000445008:K157R;ENSP00000447793:K157R;ENSP00000447196:K168R;ENSP00000449649:K116R;ENSP00000448133:K130R;ENSP00000448764:K157R;ENSP00000446787:K116R;ENSP00000448836:K163R;ENSP00000446756:K164R	ENSP00000261182:K157R	K	-	2	0	NAP1L1	74736168	1.000000	0.71417	0.988000	0.46212	0.944000	0.59088	8.036000	0.88901	1.107000	0.41642	-0.263000	0.10527	AAA	.		0.323	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		C	76449901	T	C	76449901	3	2	17	1	0	0	0	0	1	0	0	0	10194	1841	64	4	741	4	NAP1L1	12	76449901	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	18318601	76449901	57401994	117	2364											
KIAA1033	23325	hgsc.bcm.edu	37	12	105558483	105558483	+	Missense_Mutation	SNP	C	C	T	rs199807811		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:105558483C>T	ENST00000332180.5	+	32	3506	c.3419C>T	c.(3418-3420)gCg>gTg	p.A1140V	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GACAAGACTGCGGCTGAAGAA	0.333																																					p.A1140V		.											.	.	.	0			c.C3419T						.	C	VAL/ALA	1,3609		0,1,1804	24	25	24		3419	6.2	1	12		24	0,8140		0,0,4070	no	missense	KIAA1033	NM_015275.1	64	0,1,5874	TT,TC,CC		0.0,0.0277,0.0085	probably-damaging	1140/1174	105558483	1,11749	1805	4070	5875	SO:0001583	missense	23325	exon32			AGACTGCGGCTGA	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3419C>T	12.37:g.105558483C>T	ENSP00000328062:p.Ala1140Val	44	0		37	4	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164581	0.94727	2.77E-4	0.0	ENSG00000136051	ENST00000332180	T	0.48522	0.81	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.56553	-0.7960	10	0.31617	T	0.26	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1141;1140	B7ZKT9;Q2M389	.;WASH7_HUMAN	V	1140	ENSP00000328062:A1140V	ENSP00000328062:A1140V	A	+	2	0	KIAA1033	104082613	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.756000	0.85195	2.941000	0.99782	0.655000	0.94253	GCG	0.001		0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		T	105558483	C	T	105558483	3	4	17	1	0	0	0	0	1	0	0	0	8233	768	27	1	3545	1	KIAA1033	12	105558483	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	29108582	105558483	28293412	118	2365											
TAOK3	51347	bcgsc.ca	37	12	118619240	118619240	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr12:118619240G>A	ENST00000392533.3	-	15	1992	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	TAOK3_ENST00000419821.2_Missense_Mutation_p.A501V|TAOK3_ENST00000537952.1_Missense_Mutation_p.A41V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	501					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|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 stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGTTGTTGGCATGCGTCTC	0.562											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A501V													.	TAOK3	151	0			c.C1502T						.						186	142	157					12																	118619240		2203	4300	6503	SO:0001583	missense	51347	exon15			TTGTTGGCATGCG	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1502C>T	12.37:g.118619240G>A	ENSP00000376317:p.Ala501Val	49	0	1489	20	3	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868872	0.32977	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.25912	1.77;1.77;1.77	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.46157	1.445	0.80722	D	1	B	0.20887	0.049	B	0.16722	0.016	T	0.12293	-1.0553	10	0.02654	T	1	.	19.4372	0.94801	0.0:0.0:1.0:0.0	.	501	Q9H2K8	TAOK3_HUMAN	V	501;501;41;121	ENSP00000416374:A501V;ENSP00000376317:A501V;ENSP00000443834:A41V	ENSP00000352863:A121V	A	-	2	0	TAOK3	117103623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.827000	0.97445	0.650000	0.86243	GCC	.		0.562	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		A	118619240	G	A	118619240	3	1	17	1	0	0	0	0	1	0	0	0	15596	1203	42	3	1222	3	TAOK3	12	118619240	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	13060757	118619240	15232655	119	2366											
OR4K1	79544	hgsc.bcm.edu	37	14	20404579	20404579	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr14:20404579G>T	ENST00000285600.4	+	1	813	c.754G>T	c.(754-756)Ggg>Tgg	p.G252W		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	252						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)		TCTTTTCTTCGGGCCTTGCAT	0.438																																					p.G252W		.											OR4K1,NS,carcinoma,0,1	OR4K1	0	0			c.G754T						.						128	127	127					14																	20404579		2203	4300	6503	SO:0001583	missense	79544	exon1			TTCTTCGGGCCTT		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.754G>T	14.37:g.20404579G>T	ENSP00000285600:p.Gly252Trp	60	0		47	2	NM_001004063	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	11.30	1.597042	0.28445	.	.	ENSG00000155249	ENST00000285600	T	0.39229	1.09	5.09	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.74913	0.3779	H	0.99261	4.49	0.28773	N	0.900244	D	0.89917	1.0	D	0.97110	1.0	T	0.71457	-0.4587	10	0.87932	D	0	.	6.2927	0.21069	0.0931:0.0:0.7251:0.1818	.	252	Q8NGD4	OR4K1_HUMAN	W	252	ENSP00000285600:G252W	ENSP00000285600:G252W	G	+	1	0	OR4K1	19474419	0.000000	0.05858	0.945000	0.38365	0.460000	0.32559	-0.166000	0.09954	0.723000	0.32274	-0.182000	0.12963	GGG	.		0.438	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			T	20404579	G	T	20404579	3	4	17	1	0	0	0	0	1	0	0	0	11106	1116	39	2	756	2	OR4K1	14	20404579	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09		20404579	86944961	120	2367											
ESR2	2100	hgsc.bcm.edu	37	14	64749427	64749427	+	Missense_Mutation	SNP	G	G	T	rs147382781		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr14:64749427G>T	ENST00000341099.4	-	2	694	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	ESR2_ENST00000357782.2_Missense_Mutation_p.R93S|ESR2_ENST00000555278.1_Missense_Mutation_p.R93S|ESR2_ENST00000267525.6_Missense_Mutation_p.R93S|ESR2_ENST00000553796.1_Missense_Mutation_p.R93S|ESR2_ENST00000557772.1_Missense_Mutation_p.R93S|ESR2_ENST00000353772.3_Missense_Mutation_p.R93S|ESR2_ENST00000554572.1_Missense_Mutation_p.R93S|ESR2_ENST00000542956.1_Missense_Mutation_p.R93S|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.R93S	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	93	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)	GATAACTGGCGATGGACCACT	0.507																																					p.R93S		.											ESR2_ENST00000554572,mucosal,malignant_melanoma,0,2	ESR2_ENST00000554572	0	0			c.C277A						.						101	96	98					14																	64749427		2203	4300	6503	SO:0001583	missense	2100	exon1			ACTGGCGATGGAC	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.277C>A	14.37:g.64749427G>T	ENSP00000343925:p.Arg93Ser	32	0		35	2	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	2.354	-0.348106	0.05208	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.89939	-2.58;-2.53;-2.52;-2.52;-2.52;-2.59;-2.59;-2.59;-2.59;-2.42;-2.13	5.56	3.24	0.37175	Estrogen receptor beta, N-terminal (1);	0.372430	0.32386	N	0.006163	T	0.80171	0.4574	L	0.29908	0.895	0.22701	N	0.998833	B;B;B;B;B	0.32693	0.38;0.001;0.035;0.011;0.012	B;B;B;B;B	0.32533	0.147;0.008;0.029;0.068;0.049	T	0.64931	-0.6291	10	0.20046	T	0.44	.	9.3477	0.38118	0.8518:0.0:0.1482:0.0	.	93;93;93;93;93	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	S	93	ENSP00000452485:R93S;ENSP00000441792:R93S;ENSP00000450699:R93S;ENSP00000335551:R93S;ENSP00000351412:R93S;ENSP00000450488:R93S;ENSP00000452426:R93S;ENSP00000350427:R93S;ENSP00000451582:R93S;ENSP00000343925:R93S;ENSP00000267525:R93S	ENSP00000267525:R93S	R	-	1	0	ESR2	63819180	1.000000	0.71417	0.152000	0.22495	0.011000	0.07611	2.814000	0.48010	0.413000	0.25759	-0.471000	0.05019	CGC	.		0.507	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64749427	G	T	64749427	3	4	17	1	0	0	0	0	1	0	0	0	5273	1058	37	2	1433	2	ESR2	14	64749427	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	44344848	64749427	42600113	121	2368											
MPP5	64398	hgsc.bcm.edu	37	14	67787063	67787063	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr14:67787063C>T	ENST00000261681.4	+	12	2147	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.R462C	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	496	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		GAATGAATTGCGTCAGAGGCT	0.423																																					p.R496C		.											MPP5,NS,carcinoma,0,1	MPP5	0	0			c.C1486T						.						113	106	109					14																	67787063		2203	4300	6503	SO:0001583	missense	64398	exon12			GAATTGCGTCAGA	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1486C>T	14.37:g.67787063C>T	ENSP00000261681:p.Arg496Cys	39	0		33	2	NM_022474	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730807	0.69074	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.43688	0.94;0.94	5.58	5.58	0.84498	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.45470	1.425	0.80722	D	1	D	0.57257	0.979	P	0.59288	0.855	T	0.57394	-0.7819	10	0.87932	D	0	.	19.9299	0.97115	0.0:1.0:0.0:0.0	.	496	Q8N3R9	MPP5_HUMAN	C	496;462	ENSP00000261681:R496C;ENSP00000451488:R462C	ENSP00000261681:R496C	R	+	1	0	MPP5	66856816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.586000	0.60984	2.769000	0.95229	0.655000	0.94253	CGT	.		0.423	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		T	67787063	C	T	67787063	3	4	17	1	0	0	0	0	1	0	0	0	9775	768	27	1	1524	1	MPP5	14	67787063	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	3037636	67787063	39562477	122	2369											
TRIP11	9321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	92470476	92470476	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr14:92470476T>A	ENST00000267622.4	-	11	4217	c.3844A>T	c.(3844-3846)Aaa>Taa	p.K1282*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1282					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)		CCAAAATTTTTGAGTTTGGTT	0.378			T	PDGFRB	AML																																p.K1282X	Ovarian(84;609 1888 9852 42686)	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	.	0			c.A3844T						.						56	58	57					14																	92470476		2202	4300	6502	SO:0001587	stop_gained	9321	exon11			AATTTTTGAGTTT	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.3844A>T	14.37:g.92470476T>A	ENSP00000267622:p.Lys1282*	32	0		37	10	NM_004239	B2RUT2|O14689|O15154|O95949	Nonsense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.972174|5.972174	0.97162|0.97162	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	.|.	.|.	.|.	5.24|5.24	4.06|4.06	0.47325|0.47325	.|.	0.267150|.	0.38720|.	N|.	0.001584|.	.|T	.|0.61048	.|0.2316	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67760	.|-0.5587	.|3	0.02654|.	T|.	1|.	.|.	12.0531|12.0531	0.53518|0.53518	0.0:0.0:0.1445:0.8555|0.0:0.0:0.1445:0.8555	.|.	.|.	.|.	.|.	X|L	1282;1018|997	.|.	ENSP00000267622:K1282X|.	K|Q	-|-	1|2	0|0	TRIP11|TRIP11	91540229|91540229	0.437000|0.437000	0.25593|0.25593	0.920000|0.920000	0.36463|0.36463	0.396000|0.396000	0.30629|0.30629	3.281000|3.281000	0.51685|0.51685	0.789000|0.789000	0.33779|0.33779	0.374000|0.374000	0.22700|0.22700	AAA|CAA	.		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			A	92470476	T	A	92470476	4	1	17	1	0	0	0	0	0	1	0	0	16603	1821	63	5	2139	5	TRIP11	14	92470476	Nonsense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	24683413	92470476	14879064	123	2370											
AQR	9716	bcgsc.ca	37	15	35185921	35185921	+	Silent	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr15:35185921G>T	ENST00000156471.5	-	23	2739	c.2514C>A	c.(2512-2514)tcC>tcA	p.S838S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	838					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)		GGTAGATGTTGGATATGATCT	0.428																																					p.S838S													.	AQR	139	0			c.C2514A						.						280	281	281					15																	35185921		1983	4163	6146	SO:0001819	synonymous_variant	9716	exon23			GATGTTGGATATG	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.2514C>A	15.37:g.35185921G>T		72	0		78	4	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	CCDS42013.1																																																																																			.		0.428	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35185921	G	T	35185921	2	4	17	1	0	0	0	0	0	0	0	1	835	1335	47	3		3	AQR	15	35185921	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09		35185921	67345471	124	2371											
ZNF280D	54816	hgsc.bcm.edu	37	15	56959057	56959057	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr15:56959057G>A	ENST00000267807.7	-	15	1889	c.1673C>T	c.(1672-1674)gCa>gTa	p.A558V	ZNF280D_ENST00000559237.1_Missense_Mutation_p.A545V|ZNF280D_ENST00000559000.1_Missense_Mutation_p.A545V|ZNF280D_ENST00000396245.1_Missense_Mutation_p.A262V	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	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)			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)		ATTAGATTTTGCAGGATTTTT	0.368																																					p.A558V		.											.	.	.	0			c.C1673T						.						115	120	119					15																	56959057		2191	4292	6483	SO:0001583	missense	54816	exon15			GATTTTGCAGGAT	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.1673C>T	15.37:g.56959057G>A	ENSP00000267807:p.Ala558Val	44	0		46	2	NM_017661	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	2.932	-0.220904	0.06061	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03094	4.05;4.46	5.1	1.85	0.25348	.	9.061880	0.01209	N	0.007794	T	0.01254	0.0041	N	0.00436	-1.5	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.40590	-0.9555	10	0.23891	T	0.37	0.0358	0.8374	0.01142	0.2625:0.1233:0.378:0.2363	.	621;558	B4DHL1;Q6N043	.;Z280D_HUMAN	V	558;545;262	ENSP00000267807:A558V;ENSP00000379545:A262V	ENSP00000267807:A558V	A	-	2	0	ZNF280D	54746349	0.970000	0.33590	0.005000	0.12908	0.196000	0.23810	0.688000	0.25422	0.160000	0.19432	0.591000	0.81541	GCA	.		0.368	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		A	56959057	G	A	56959057	3	1	17	1	0	0	0	0	1	0	0	0	17865	1319	46	3	1298	3	ZNF280D	15	56959057	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	21773136	56959057	45572335	125	2372											
C15orf44	81556	bcgsc.ca	37	15	65877170	65877170	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr15:65877170G>T	ENST00000395644.4	-	10	1512	c.1177C>A	c.(1177-1179)Ccc>Acc	p.P393T	VWA9_ENST00000569491.1_Missense_Mutation_p.P343T|VWA9_ENST00000431261.2_Missense_Mutation_p.P314T|VWA9_ENST00000567744.1_Missense_Mutation_p.P429T|VWA9_ENST00000569180.1_5'UTR|VWA9_ENST00000442903.3_Missense_Mutation_p.P357T|VWA9_ENST00000420799.2_Missense_Mutation_p.P336T|VWA9_ENST00000313182.2_Missense_Mutation_p.P393T			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	393																	TTGTTTTTGGGCTGCAGGGGG	0.438																																					p.P375T													.	VWA9	15	0			c.C1123A						.						162	142	148					15																	65877170		2201	4299	6500	SO:0001583	missense	81556	exon10			TTTTGGGCTGCAG	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1177C>A	15.37:g.65877170G>T	ENSP00000379006:p.Pro393Thr	72	1		75	5	NM_001207058	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37		.	.	.	.	.	.	.	.	.	.	G	33	5.258511	0.95368	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	L	0.49126	1.545	0.80722	D	1	D;P;P;P	0.76494	0.999;0.773;0.787;0.647	D;B;B;B	0.66979	0.948;0.389;0.322;0.203	T	0.68337	-0.5435	9	0.31617	T	0.26	-21.1935	20.8794	0.99867	0.0:0.0:1.0:0.0	.	343;357;429;393	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	T	393;393;314;336;357	.	ENSP00000326379:P393T	P	-	1	0	C15orf44	63664223	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	CCC	.		0.438	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		T	65877170	G	T	65877170	3	4	17	1	0	0	0	0	1	0	0	0	1803	1203	42	3	391	3	C15orf44	15	65877170	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	8918113	65877170	36654222	126	2373											
CSPG4	1464	bcgsc.ca	37	15	75968449	75968449	+	Silent	SNP	G	G	T	rs367613285		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr15:75968449G>T	ENST00000308508.5	-	10	6503	c.6411C>A	c.(6409-6411)ccC>ccA	p.P2137P	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	2137	Cysteine-containing.|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						TGTCACCTGCGGGGCCGGGGG	0.697																																					p.P2137P													.	CSPG4	175	0			c.C6411A						.						11	11	11					15																	75968449		2109	4156	6265	SO:0001819	synonymous_variant	1464	exon10			ACCTGCGGGGCCG	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.6411C>A	15.37:g.75968449G>T		41	0		45	4	NM_001897	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			.		0.697	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75968449	G	T	75968449	2	4	17	1	0	0	0	0	0	0	0	1	3969	1103	39	2		2	CSPG4	15	75968449	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	10091279	75968449	26562943	127	2374											
CHRNA5	1138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	78882199	78882199	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr15:78882199G>T	ENST00000299565.5	+	5	666	c.466G>T	c.(466-468)Ggc>Tgc	p.G156C	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	156					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	CAGGTACAATGGCACTGTCAC	0.403																																					p.G156C		.											.	.	.	0			c.G466T						.						172	150	157					15																	78882199		2196	4293	6489	SO:0001583	missense	1138	exon5			TACAATGGCACTG		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.466G>T	15.37:g.78882199G>T	ENSP00000299565:p.Gly156Cys	36	0		42	4	NM_000745	Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511388	0.85389	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.97404	-4.37	5.37	5.37	0.77165	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98372	1.0554	10	0.87932	D	0	.	19.4881	0.95039	0.0:0.0:1.0:0.0	.	156	P30532	ACHA5_HUMAN	C	156;107	ENSP00000299565:G156C	ENSP00000299565:G156C	G	+	1	0	CHRNA5	76669254	1.000000	0.71417	0.974000	0.42286	0.802000	0.45316	9.805000	0.99149	2.673000	0.90976	0.655000	0.94253	GGC	.		0.403	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			T	78882199	G	T	78882199	3	4	17	1	0	0	0	0	1	0	0	0	3393	1348	47	3	484	3	CHRNA5	15	78882199	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	2913750	78882199	23649193	128	2375											
VPS33B	26276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	91544680	91544680	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr15:91544680T>C	ENST00000333371.3	-	19	1771	c.1418A>G	c.(1417-1419)gAt>gGt	p.D473G	VPS33B_ENST00000535906.1_Missense_Mutation_p.D446G|VPS33B_ENST00000535843.1_Missense_Mutation_p.D382G	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	473					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)					ACTGAAGGCATCAGTAATCTT	0.473																																					p.D473G		.											.	.	.	0			c.A1418G						.						115	105	108					15																	91544680		2198	4298	6496	SO:0001583	missense	26276	exon19			AAGGCATCAGTAA	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.1418A>G	15.37:g.91544680T>C	ENSP00000327650:p.Asp473Gly	42	0		45	23	NM_018668	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349522	0.61183	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.58797	0.32;0.31;0.9	5.89	5.89	0.94794	.	0.053328	0.85682	D	0.000000	T	0.65831	0.2729	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.83275	0.993;0.996	T	0.61267	-0.7097	10	0.22109	T	0.4	-33.9645	16.0173	0.80450	0.0:0.0:0.0:1.0	.	446;473	F5H008;Q9H267	.;VP33B_HUMAN	G	473;446;382;428	ENSP00000327650:D473G;ENSP00000444053:D446G;ENSP00000446267:D382G	ENSP00000327650:D473G	D	-	2	0	VPS33B	89345684	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.894000	0.75655	2.254000	0.74563	0.529000	0.55759	GAT	.		0.473	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		C	91544680	T	C	91544680	3	2	17	1	0	0	0	0	1	0	0	0	17251	1435	50	4	455	4	VPS33B	15	91544680	Missense_Mutation	SNP	T	TCGA-W5-AA2X-01A-11D-A417-09	12662481	91544680	10986712	129	2376											
POLR3E	55718	broad.mit.edu	37	16	22337151	22337151	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr16:22337151C>T	ENST00000299853.5	+	18	1585	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	POLR3E_ENST00000359210.4_Missense_Mutation_p.A473V|POLR3E_ENST00000418581.2_Missense_Mutation_p.A437V|POLR3E_ENST00000564209.1_Missense_Mutation_p.A473V	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	473					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CAGAACCACGCGTTGCTGGAG	0.701																																					p.A473V													POLR3E,rectum,carcinoma,+1,1	POLR3E	62	0			c.C1418T						.						24	24	24					16																	22337151		2196	4297	6493	SO:0001583	missense	55718	exon18			ACCACGCGTTGCT	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1418C>T	16.37:g.22337151C>T	ENSP00000299853:p.Ala473Val	46	0		50	5	NM_001258033	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062149	0.36373	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.45276	0.91;0.91;0.9	5.27	0.661	0.17874	.	0.636877	0.16035	N	0.232686	T	0.28599	0.0708	L	0.38531	1.155	0.09310	N	1	B;B;B;B;B;B	0.20164	0.025;0.001;0.003;0.002;0.001;0.042	B;B;B;B;B;B	0.14023	0.004;0.002;0.003;0.002;0.002;0.01	T	0.23619	-1.0183	10	0.87932	D	0	-4.0025	5.666	0.17695	0.0:0.4324:0.1794:0.3883	.	417;437;473;473;473;473	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	V	473;473;437	ENSP00000299853:A473V;ENSP00000352140:A473V;ENSP00000399254:A437V	ENSP00000299853:A473V	A	+	2	0	POLR3E	22244652	0.000000	0.05858	0.003000	0.11579	0.951000	0.60555	0.177000	0.16801	0.250000	0.21479	0.462000	0.41574	GCG	.		0.701	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		T	22337151	C	T	22337151	3	4	17	1	0	0	0	0	1	0	0	0	12271	768	27	1	1484	1	POLR3E	16	22337151	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		22337151	68017602	130	2377											
ITGAX	3687	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	31384573	31384573	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr16:31384573G>T	ENST00000268296.4	+	20	2491	c.2370G>T	c.(2368-2370)ttG>ttT	p.L790F	ITGAX_ENST00000562522.1_Missense_Mutation_p.L790F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	790					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						TACCCAGCTTGAAGTCCCTGC	0.527																																					p.L790F		.											.	.	.	0			c.G2370T						.						104	86	92					16																	31384573		2197	4300	6497	SO:0001583	missense	3687	exon20			CAGCTTGAAGTCC	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.2370G>T	16.37:g.31384573G>T	ENSP00000268296:p.Leu790Phe	22	0		30	4	NM_000887	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336296	0.41398	.	.	ENSG00000140678	ENST00000268296	T	0.47177	0.85	4.89	3.92	0.45320	Integrin alpha-2 (1);	.	.	.	.	T	0.68118	0.2966	M	0.81112	2.525	0.19775	N	0.999952	D	0.89917	1.0	D	0.97110	1.0	T	0.57837	-0.7742	9	0.59425	D	0.04	.	10.6532	0.45659	0.0913:0.0:0.9087:0.0	.	790	P20702	ITAX_HUMAN	F	790	ENSP00000268296:L790F	ENSP00000268296:L790F	L	+	3	2	ITGAX	31292074	0.996000	0.38824	0.367000	0.25926	0.413000	0.31143	4.038000	0.57318	1.416000	0.47057	0.591000	0.81541	TTG	.		0.527	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31384573	G	T	31384573	3	4	17	1	0	0	0	0	1	0	0	0	7916	1281	45	3	2448	3	ITGAX	16	31384573	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	9047422	31384573	58970180	131	2378											
GNAO1	2775	hgsc.bcm.edu;bcgsc.ca	37	16	56377816	56377816	+	Intron	SNP	C	C	T	rs200947037		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr16:56377816C>T	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.T340M	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)				GATGCTGTGACGGACGTCATC	0.612																																					p.T340M		.											GNAO1_ENST00000262494,lower_third,carcinoma,0,1	GNAO1_ENST00000262494	0	0			c.C1019T						.						178	121	140					16																	56377816		2198	4300	6498	SO:0001627	intron_variant	2775	exon8			CTGTGACGGACGT		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+7044C>T	16.37:g.56377816C>T		21	0		15	3	NM_138736	P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815013	0.90790	.	.	ENSG00000087258	ENST00000262494	D	0.88354	-2.37	4.58	4.58	0.56647	.	.	.	.	.	D	0.95156	0.8430	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96089	0.9060	9	0.87932	D	0	.	17.7684	0.88485	0.0:1.0:0.0:0.0	.	340	P09471-2	.	M	340	ENSP00000262494:T340M	ENSP00000262494:T340M	T	+	2	0	GNAO1	54935317	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.713000	0.84693	2.278000	0.76064	0.561000	0.74099	ACG	.		0.612	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		T	56377816	C	T	56377816	1	4	17	0	1	0	0	0	0	0	0	0	6534	536	19	1		1	GNAO1	16	56377816	Intron	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	24993243	56377816	33976937	132	2379											
CKLF	51192	hgsc.bcm.edu	37	16	66597060	66597060	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr16:66597060G>T	ENST00000264001.4	+	3	422	c.273G>T	c.(271-273)atG>atT	p.M91I	CKLF-CMTM1_ENST00000532838.1_Missense_Mutation_p.M38I|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.M38I|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000417030.2_Missense_Mutation_p.M91I	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	91	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CAGTATTCATGCTCATCGTAT	0.393																																					p.M91I		.											CKLF,NS,carcinoma,0,1	CKLF	0	0			c.G273T						.						195	164	174					16																	66597060		2201	4300	6501	SO:0001583	missense	51192	exon3			ATTCATGCTCATC	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"chemokine-like factor 1"	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.273G>T	16.37:g.66597060G>T	ENSP00000264001:p.Met91Ile	45	0		45	2	NM_001040138	C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP	ENST00000264001.4	37	CCDS10807.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681561	0.29872	.	.	ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000254788	ENST00000264001;ENST00000351137;ENST00000361141;ENST00000417030;ENST00000532838;ENST00000529718	T;T	0.43688	0.94;0.94	5.02	4.01	0.46588	Marvel (1);	.	.	.	.	T	0.38639	0.1048	L	0.50333	1.59	0.80722	D	1	B;B;B	0.28291	0.122;0.206;0.206	B;B;B	0.33454	0.036;0.059;0.164	T	0.36648	-0.9739	9	0.56958	D	0.05	-21.3557	9.7372	0.40395	0.0:0.0:0.7792:0.2208	.	91;91;38	Q9UBR5-5;Q9UBR5;Q5BJH6	.;CKLF_HUMAN;.	I	91;38;91;91;38;10	ENSP00000264001:M91I;ENSP00000416678:M91I	ENSP00000433503:M10I	M	+	3	0	CKLF;CKLF-CMTM1	65154561	0.922000	0.31269	0.941000	0.38009	0.435000	0.31806	1.377000	0.34317	2.608000	0.88229	0.650000	0.86243	ATG	.		0.393	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		T	66597060	G	T	66597060	3	4	17	1	0	0	0	0	1	0	0	0	3454	1319	46	3	283	3	CKLF	16	66597060	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	10219244	66597060	23757693	133	2380											
FUK	197258	hgsc.bcm.edu	37	16	70497537	70497537	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr16:70497537C>T	ENST00000288078.6	+	3	326	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.R32W|FUK_ENST00000378912.2_Missense_Mutation_p.R32W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	32						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.R32W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ACTGGAAGTGCGGCAGAAGCG	0.617																																					p.R32W		.											FUK_ENST00000428974,NS,carcinoma,0,3	FUK_ENST00000428974	0	1	Substitution - Missense(1)	lung(1)	c.C94T						.						67	73	71					16																	70497537		2019	4166	6185	SO:0001583	missense	197258	exon3			GAAGTGCGGCAGA		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.94C>T	16.37:g.70497537C>T	ENSP00000288078:p.Arg32Trp	30	0		41	2	NM_145059	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084491	0.76642	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.51574	3.05;2.97;0.7	5.05	3.0	0.34707	.	0.000000	0.64402	D	0.000001	T	0.67287	0.2877	M	0.78637	2.42	0.39927	D	0.97423	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.977;0.999	T	0.71626	-0.4536	10	0.72032	D	0.01	-27.2187	12.664	0.56830	0.4431:0.5569:0.0:0.0	.	32;32;32	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	W	32	ENSP00000288078:R32W;ENSP00000368192:R32W;ENSP00000408007:R32W	ENSP00000288078:R32W	R	+	1	2	FUK	69055038	0.999000	0.42202	0.995000	0.50966	0.947000	0.59692	1.248000	0.32827	0.575000	0.29434	0.655000	0.94253	CGG	.		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		T	70497537	C	T	70497537	3	4	17	1	0	0	0	0	1	0	0	0	6120	759	27	1	100	1	FUK	16	70497537	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	3900477	70497537	19857216	134	2381											
SMYD4	114826	hgsc.bcm.edu	37	17	1703342	1703342	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:1703342G>A	ENST00000305513.7	-	5	1513	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	449	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A449V(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TCTGCACAGTGCAGAAACACA	0.458																																					p.A449V		.											SMYD4,NS,carcinoma,0,1	SMYD4	0	1	Substitution - Missense(1)	lung(1)	c.C1346T						.						89	79	82					17																	1703342		2203	4300	6503	SO:0001583	missense	114826	exon5			CACAGTGCAGAAA	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.1346C>T	17.37:g.1703342G>A	ENSP00000304360:p.Ala449Val	39	0		31	2	NM_052928	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176501	0.38413	.	.	ENSG00000186532	ENST00000305513	T	0.10099	2.91	6.03	1.86	0.25419	SET domain (2);	0.301840	0.41294	N	0.000908	T	0.12305	0.0299	M	0.70595	2.14	0.28173	N	0.928509	B	0.17038	0.02	B	0.21708	0.036	T	0.42732	-0.9434	10	0.06891	T	0.86	-1.7258	13.1655	0.59569	0.2395:0.0:0.7605:0.0	.	449	Q8IYR2	SMYD4_HUMAN	V	449	ENSP00000304360:A449V	ENSP00000304360:A449V	A	-	2	0	SMYD4	1650092	0.997000	0.39634	0.833000	0.33012	0.963000	0.63663	3.063000	0.49978	-0.041000	0.13558	-0.797000	0.03246	GCA	.		0.458	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		A	1703342	G	A	1703342	3	1	17	1	0	0	0	0	1	0	0	0	14869	1319	46	3	1096	3	SMYD4	17	1703342	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09		1703342	79491868	135	2382											
SLC13A5	284111	hgsc.bcm.edu	37	17	6599187	6599187	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:6599187C>T	ENST00000433363.2	-	7	1146	c.913G>A	c.(913-915)Gag>Aag	p.E305K	SLC13A5_ENST00000293800.6_Missense_Mutation_p.E288K|SLC13A5_ENST00000381074.4_Missense_Mutation_p.E262K|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E305K	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	305					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)	p.E305K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TTCCGGTACTCCTCCTGCAGC	0.557																																					p.E305K		.											SLC13A5,NS,carcinoma,0,1	SLC13A5	0	1	Substitution - Missense(1)	endometrium(1)	c.G913A						.						133	137	135					17																	6599187		2203	4300	6503	SO:0001583	missense	284111	exon7			GGTACTCCTCCTG	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.913G>A	17.37:g.6599187C>T	ENSP00000406220:p.Glu305Lys	15	0		29	3	NM_001143838	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201777	0.94997	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.03330	3.97;3.97	5.29	5.29	0.74685	.	0.094859	0.64402	D	0.000001	T	0.15696	0.0378	M	0.65498	2.005	0.80722	D	1	P;P;P;P;P	0.51351	0.904;0.94;0.904;0.904;0.944	P;P;P;P;D	0.62955	0.869;0.794;0.869;0.792;0.909	T	0.00022	-1.2339	10	0.59425	D	0.04	.	16.8046	0.85623	0.0:1.0:0.0:0.0	.	305;262;262;288;305	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	K	305;305;262	ENSP00000406220:E305K;ENSP00000370464:E262K	ENSP00000293800:E305K	E	-	1	0	SLC13A5	6539911	1.000000	0.71417	0.957000	0.39632	0.631000	0.37964	5.666000	0.68059	2.647000	0.89833	0.655000	0.94253	GAG	.		0.557	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		T	6599187	C	T	6599187	3	4	17	1	0	0	0	0	1	0	0	0	14440	864	30	3	817	3	SLC13A5	17	6599187	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	4895845	6599187	74596023	136	2383											
C17orf61	254863	bcgsc.ca	37	17	7307394	7307394	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:7307394G>T	ENST00000302422.3	-	1	62	c.10C>A	c.(10-12)Cca>Aca	p.P4T	TMEM256-PLSCR3_ENST00000535512.1_5'UTR|C17orf61-PLSCR3_ENST00000573331.1_Missense_Mutation_p.P4T|NLGN2_ENST00000575301.1_5'Flank	NM_152766.3	NP_689979.1	Q8N2U0	TM256_HUMAN	transmembrane protein 256	4						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCTGCAGCTGGCCCGGCCATA	0.667																																					p.P4T													.	.	.	0			c.C10A						.						10	13	12					17																	7307394		2170	4265	6435	SO:0001583	missense	254863	exon1			CAGCTGGCCCGGC	BC030270	CCDS11102.1	17p13.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000205544	ENSG00000205544			28618	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 61"	C17orf61		12477932	Standard	NM_152766		Approved	MGC40107	uc002ggs.3	Q8N2U0	OTTHUMG00000132900	ENST00000302422.3:c.10C>A	17.37:g.7307394G>T	ENSP00000301939:p.Pro4Thr	76	1		69	4	NM_152766		Missense_Mutation	SNP	ENST00000302422.3	37	CCDS11102.1	.	.	.	.	.	.	.	.	.	.	G	6.110	0.388470	0.11581	.	.	ENSG00000205544	ENST00000302422	.	.	.	4.97	-2.63	0.06133	.	2.559450	0.01387	N	0.013136	T	0.14874	0.0359	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.13575	-1.0504	9	0.13108	T	0.6	19.8283	5.1458	0.14983	0.337:0.2688:0.3942:0.0	.	4	Q8N2U0	CQ061_HUMAN	T	4	.	ENSP00000301939:P4T	P	-	1	0	C17orf61	7248118	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.078000	0.14761	-0.286000	0.09076	0.561000	0.74099	CCA	.		0.667	TMEM256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256404.1	NM_152766		T	7307394	G	T	7307394	3	4	17	1	0	0	0	0	1	0	0	0	1875	1203	42	3	347	3	C17orf61	17	7307394	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	708207	7307394	73887816	137	2384											
KIAA0100	9703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	26948452	26948452	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:26948452C>A	ENST00000528896.2	-	27	5098	c.5024G>T	c.(5023-5025)gGg>gTg	p.G1675V	KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1532V|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1532V|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1675						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACTGCCTGCCCACTCTCCAT	0.557																																					p.G1675V		.											.	.	.	0			c.G5024T						.						112	101	104					17																	26948452		2203	4300	6503	SO:0001583	missense	9703	exon27			GCCTGCCCACTCT	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5024G>T	17.37:g.26948452C>A	ENSP00000436773:p.Gly1675Val	25	0		31	4	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359897	0.82353	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.45668	0.89;0.96	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63427	-0.6640	10	0.62326	D	0.03	.	18.2554	0.90017	0.0:1.0:0.0:0.0	.	1675	Q14667	K0100_HUMAN	V	1675;1645;1675;1532	ENSP00000436773:G1675V;ENSP00000446443:G1532V	ENSP00000005905:G1675V	G	-	2	0	KIAA0100	23972579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.277000	0.78572	2.826000	0.97356	0.491000	0.48974	GGG	.		0.557	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		A	26948452	C	A	26948452	3	1	17	1	0	0	0	0	1	0	0	0	8181	623	22	3	1735	3	KIAA0100	17	26948452	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	19641058	26948452	54246758	138	2385											
NUFIP2	57532	hgsc.bcm.edu;bcgsc.ca	37	17	27614321	27614321	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:27614321C>T	ENST00000225388.4	-	2	749	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	231						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)			CAACCCTTGGCACTATTGCGC	0.398																																					p.A231T		.											.	.	.	0			c.G691A						.						146	145	145					17																	27614321		2203	4300	6503	SO:0001583	missense	57532	exon2			CCTTGGCACTATT	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.691G>A	17.37:g.27614321C>T	ENSP00000225388:p.Ala231Thr	36	0		35	4	NM_020772	A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043888	0.55110	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	4.16	0.48862	.	0.068189	0.64402	N	0.000010	T	0.42988	0.1227	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27191	-1.0081	9	0.45353	T	0.12	-1.0097	8.3518	0.32307	0.1287:0.7399:0.0:0.1315	.	231	Q7Z417	NUFP2_HUMAN	T	231	.	ENSP00000225388:A231T	A	-	1	0	NUFIP2	24638447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.627000	0.37050	0.895000	0.36342	0.655000	0.94253	GCC	.		0.398	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		T	27614321	C	T	27614321	3	4	17	1	0	0	0	0	1	0	0	0	10788	710	25	3	1408	3	NUFIP2	17	27614321	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	665869	27614321	53580889	139	2386											
C17orf78	284099	hgsc.bcm.edu;bcgsc.ca	37	17	35746210	35746210	+	Silent	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:35746210C>T	ENST00000300618.4	+	6	713	c.663C>T	c.(661-663)tgC>tgT	p.C221C	ACACA_ENST00000416895.1_Intron|ACACA_ENST00000589665.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.P141S|RP11-378E13.3_ENST00000592238.1_RNA|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	221						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)				GGAAGCTGTGCCAATGCCAGT	0.493																																					p.C221C		.											.	.	.	0			c.C663T						.						46	48	48					17																	35746210		1972	4163	6135	SO:0001819	synonymous_variant	284099	exon6			GCTGTGCCAATGC	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.663C>T	17.37:g.35746210C>T		31	0		31	4	NM_173625	Q8N8D2	Silent	SNP	ENST00000300618.4	37	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813713	0.32053	.	.	ENSG00000167230	ENST00000321564	.	.	.	4.89	3.92	0.45320	.	.	.	.	.	T	0.49167	0.1541	.	.	.	0.80722	D	1	P	0.49961	0.93	P	0.44477	0.451	T	0.52719	-0.8538	7	0.59425	D	0.04	-1.4057	9.6024	0.39612	0.0:0.9045:0.0:0.0955	.	141	Q8N4C9-2	.	S	141	.	ENSP00000318689:P141S	P	+	1	0	C17orf78	32820323	0.918000	0.31147	0.997000	0.53966	0.663000	0.39108	1.043000	0.30316	1.436000	0.47453	0.650000	0.86243	CCA	.		0.493	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		T	35746210	C	T	35746210	2	4	17	1	0	0	0	0	0	0	0	1	1889	747	26	3		3	C17orf78	17	35746210	Silent	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	8131889	35746210	45449000	140	2387											
NMT1	4836	hgsc.bcm.edu;ucsc.edu	37	17	43182337	43182337	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:43182337G>T	ENST00000592782.1	+	12	1574	c.1443G>T	c.(1441-1443)tgG>tgT	p.W481C	NMT1_ENST00000258960.2_Missense_Mutation_p.W481C			P30419	NMT1_HUMAN	N-myristoyltransferase 1	481					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)				TTTACAATTGGAAATGCCCCA	0.542																																					p.W481C		.											.	.	.	0			c.G1443T						.						91	83	86					17																	43182337		2203	4300	6503	SO:0001583	missense	4836	exon11			CAATTGGAAATGC		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.1443G>T	17.37:g.43182337G>T	ENSP00000468424:p.Trp481Cys	22	0		36	4	NM_021079	A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607442	0.87157	.	.	ENSG00000136448	ENST00000258960	T	0.54866	0.55	6.07	6.07	0.98685	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84866	0.0822	10	0.87932	D	0	-8.1599	20.6439	0.99570	0.0:0.0:1.0:0.0	.	481	P30419	NMT1_HUMAN	C	481	ENSP00000258960:W481C	ENSP00000258960:W481C	W	+	3	0	NMT1	40537863	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.774000	0.98992	2.884000	0.98904	0.655000	0.94253	TGG	.		0.542	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		T	43182337	G	T	43182337	3	4	17	1	0	0	0	0	1	0	0	0	10542	1183	41	3	1485	3	NMT1	17	43182337	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	7436127	43182337	38012873	141	2388											
HLF	3131	hgsc.bcm.edu	37	17	53392723	53392723	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:53392723G>T	ENST00000226067.5	+	3	1060	c.587G>T	c.(586-588)cGc>cTc	p.R196L	HLF_ENST00000430986.2_Missense_Mutation_p.R111L|HLF_ENST00000573945.1_Missense_Mutation_p.R111L|HLF_ENST00000575345.1_Missense_Mutation_p.R111L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	196	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|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)	p.R196H(1)		large_intestine(1)|ovary(2)	3						TTTGACCCTCGCAAACGCAAG	0.517			T	TCF3	ALL																																p.R196L		.		Dom	yes		17	17q22	3131	hepatic leukemia factor		L	HLF_ENST00000226067,colon,carcinoma,+1,1	HLF_ENST00000226067	+1	1	Substitution - Missense(1)	large_intestine(1)	c.G587T						.						100	93	95					17																	53392723		2203	4300	6503	SO:0001583	missense	3131	exon3			ACCCTCGCAAACG		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.587G>T	17.37:g.53392723G>T	ENSP00000226067:p.Arg196Leu	29	1		46	2	NM_002126	A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484331	0.96307	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	M	0.84326	2.69	0.80722	D	1	P;D	0.89917	0.913;1.0	P;D	0.81914	0.706;0.995	D	0.85547	0.1219	9	0.72032	D	0.01	.	18.6178	0.91310	0.0:0.0:1.0:0.0	.	144;196	B4DIQ5;Q16534	.;HLF_HUMAN	L	196;111	.	ENSP00000226067:R196L	R	+	2	0	HLF	50747722	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.644000	0.89710	0.655000	0.94253	CGC	.		0.517	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		T	53392723	G	T	53392723	3	4	17	1	0	0	0	0	1	0	0	0	7241	1087	38	2	597	2	HLF	17	53392723	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	10210386	53392723	27802487	142	2389											
LPO	4025	hgsc.bcm.edu	37	17	56343531	56343531	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:56343531G>T	ENST00000262290.4	+	11	1853	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	LPO_ENST00000543544.1_Missense_Mutation_p.V454L|LPO_ENST00000421678.2_Missense_Mutation_p.V430L|LPO_ENST00000582328.1_Missense_Mutation_p.V430L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	513					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGATCCTCTGGTGCGGGGCCT	0.527																																					p.V513L		.											.	.	.	0			c.G1537T						.						53	47	49					17																	56343531		2203	4300	6503	SO:0001583	missense	4025	exon11			CCTCTGGTGCGGG	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1537G>T	17.37:g.56343531G>T	ENSP00000262290:p.Val513Leu	31	0		40	3	NM_006151	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	2.617	-0.289525	0.05605	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.62364	0.03;0.03;0.03	6.06	1.72	0.24424	.	0.419988	0.26549	N	0.023760	T	0.24470	0.0593	N	0.02985	-0.445	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.22800	-1.0206	10	0.02654	T	1	-9.2339	1.6414	0.02753	0.223:0.2598:0.3837:0.1336	.	430;513	E7EMJ3;P22079	.;PERL_HUMAN	L	513;430;454;258	ENSP00000262290:V513L;ENSP00000400245:V430L;ENSP00000445344:V454L	ENSP00000262290:V513L	V	+	1	0	LPO	53698530	0.002000	0.14202	0.964000	0.40570	0.998000	0.95712	-0.287000	0.08388	0.109000	0.17891	0.655000	0.94253	GTG	.		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			T	56343531	G	T	56343531	3	4	17	1	0	0	0	0	1	0	0	0	8957	1261	44	3	1575	3	LPO	17	56343531	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	2950808	56343531	24851679	143	2390											
YPEL2	388403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	57474462	57474462	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:57474462G>T	ENST00000312655.4	+	5	589	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Splice_Site_p.E91*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	91						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TATTTCCTAGGAACATGCTTT	0.398																																					p.E91X	Melanoma(86;1113 1364 8518 42220 42625)	.											.	.	.	0			c.G271T						.						89	77	81					17																	57474462		2203	4300	6503	SO:0001630	splice_region_variant	388403	exon5			TCCTAGGAACATG	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.271-1G>T	17.37:g.57474462G>T		33	0		29	14	NM_001005404	A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Nonsense_Mutation	SNP	ENST00000312655.4	37	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	36	5.792784	0.96945	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6971	19.0544	0.93058	0.0:0.0:1.0:0.0	.	.	.	.	X	91	.	.	E	+	1	0	YPEL2	54829244	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.826000	0.97356	0.561000	0.74099	GAA	.		0.398	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070	Nonsense_Mutation	T	57474462	G	T	57474462	5	4	17	1	0	0	0	0	0	0	1	0	17539	1188	41	3	285	3	YPEL2	17	57474462	Splice_Site	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	1130931	57474462	23720748	144	2391											
FDXR	2232	ucsc.edu	37	17	72860068	72860068	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:72860068G>T	ENST00000293195.5	-	10	1202	c.1124C>A	c.(1123-1125)tCc>tAc	p.S375Y	FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000583917.1_Missense_Mutation_p.S347Y|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000455107.2_Missense_Mutation_p.P358T|FDXR_ENST00000544854.1_Missense_Mutation_p.S323Y|FDXR_ENST00000442102.2_Missense_Mutation_p.S418Y|FDXR_ENST00000413947.2_Missense_Mutation_p.S406Y|FDXR_ENST00000582944.1_Missense_Mutation_p.S367Y|FDXR_ENST00000420580.2_Missense_Mutation_p.S335Y|FDXR_ENST00000581530.1_Missense_Mutation_p.S381Y	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	375					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCCAAGCTTGGAGTCAAAGGG	0.602																																					p.S418Y													.	FDXR	68	0			c.C1253A						.						95	92	93					17																	72860068		2203	4300	6503	SO:0001583	missense	2232	exon10			AGCTTGGAGTCAA	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1124C>A	17.37:g.72860068G>T	ENSP00000293195:p.Ser375Tyr	20	0		35	4	NM_001258012	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	CCDS58593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.37|12.37	1.918996|1.918996	0.33908|0.33908	.|.	.|.	ENSG00000161513|ENSG00000161513	ENST00000455107|ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T|T;T;T;T	0.16597|0.37058	2.33|1.22;1.22;1.91;1.91	4.29|4.29	3.31|3.31	0.37934|0.37934	.|NAD(P)-binding domain (1);	.|0.529435	.|0.21283	.|N	.|0.077117	T|T	0.29556|0.29556	0.0737|0.0737	L|L	0.37507|0.37507	1.11|1.11	0.23132|0.23132	N|N	0.998244|0.998244	.|B;B;B;B;B;B;B;B;B;B	.|0.34399	.|0.004;0.061;0.452;0.009;0.358;0.01;0.009;0.241;0.009;0.032	.|B;B;B;B;B;B;B;B;B;B	.|0.34722	.|0.005;0.062;0.142;0.005;0.188;0.017;0.017;0.098;0.017;0.037	T|T	0.16100|0.16100	-1.0414|-1.0414	7|10	0.13470|0.56958	T|D	0.59|0.05	0.0|0.0	11.8516|11.8516	0.52415|0.52415	0.0872:0.0:0.9128:0.0|0.0872:0.0:0.9128:0.0	.|.	.|335;418;406;373;323;406;375;367;375;381	.|B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.|.;.;.;.;.;.;.;.;ADRO_HUMAN;.	T|Y	358|335;323;381;418;406	ENSP00000390875:P358T|ENSP00000414172:S335Y;ENSP00000445432:S323Y;ENSP00000416515:S418Y;ENSP00000408595:S406Y	ENSP00000390875:P358T|ENSP00000293195:S381Y	P|S	-|-	1|2	0|0	FDXR|FDXR	70371663|70371663	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.882000|0.882000	0.50991|0.50991	2.356000|2.356000	0.44116|0.44116	0.807000|0.807000	0.34208|0.34208	-0.291000|-0.291000	0.09656|0.09656	CCA|TCC	.		0.602	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		T	72860068	G	T	72860068	3	4	17	1	0	0	0	0	1	0	0	0	5829	1174	41	3	363	3	FDXR	17	72860068	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	15385606	72860068	8335142	145	2392											
LLGL2	3993	hgsc.bcm.edu	37	17	73569305	73569305	+	Missense_Mutation	SNP	C	C	T	rs372867184		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:73569305C>T	ENST00000392550.3	+	20	2788	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	LLGL2_ENST00000577200.1_Missense_Mutation_p.R891C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R891C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	891					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)			CAGCTGCATCCGCCGGGAGGA	0.662																																					p.R891C		.											LLGL2_ENST00000167462,colon,carcinoma,0,2	LLGL2_ENST00000167462	0	0			c.C2671T						.	C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	60	54	56		2671,2671	5.2	1	17		56	1,8599		0,1,4299	no	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	180,180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	891/1021,891/1016	73569305	1,13003	2202	4300	6502	SO:0001583	missense	3993	exon20			TGCATCCGCCGGG	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.2671C>T	17.37:g.73569305C>T	ENSP00000376333:p.Arg891Cys	36	0		37	2	NM_004524	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993383	0.54041	0.0	1.16E-4	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.05855	3.38;3.49	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	M	0.82716	2.605	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	0.975;0.997;0.999;0.988;0.993	T	0.07712	-1.0758	10	0.87932	D	0	-0.4832	18.6921	0.91586	0.0:1.0:0.0:0.0	.	518;880;880;891;891	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	C	891;891;880	ENSP00000167462:R891C;ENSP00000376333:R891C	ENSP00000167462:R891C	R	+	1	0	LLGL2	71080900	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.408000	0.81797	0.400000	0.26472	CGC	.		0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		T	73569305	C	T	73569305	3	4	17	1	0	0	0	0	1	0	0	0	8864	652	23	1	2780	1	LLGL2	17	73569305	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09	709237	73569305	7625905	146	2393											
ZACN	353174	hgsc.bcm.edu	37	17	74077646	74077646	+	Silent	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:74077646G>A	ENST00000334586.5	+	7	773	c.690G>A	c.(688-690)gcG>gcA	p.A230A	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	230	Leu-rich.				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						AGAACACGGCGCTCAAGTCCA	0.667																																					p.A230A		.											ZACN,caecum,carcinoma,0,1	ZACN	0	0			c.G690A						.						97	92	94					17																	74077646		2203	4300	6503	SO:0001819	synonymous_variant	353174	exon7			CACGGCGCTCAAG	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.690G>A	17.37:g.74077646G>A		20	0		16	2	NM_180990	Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	ENST00000334586.5	37	CCDS11740.2																																																																																			.		0.667	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		A	74077646	G	A	74077646	2	1	17	1	0	0	0	0	0	0	0	1	17559	1074	38	1		1	ZACN	17	74077646	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	508341	74077646	7117564	147	2394											
BAIAP2	10458	ucsc.edu;bcgsc.ca	37	17	79090074	79090074	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr17:79090074A>G	ENST00000321300.6	+	15	1721	c.1628A>G	c.(1627-1629)gAt>gGt	p.D543G		NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	543					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)			GAGCACGGGGATGGGAGCGCC	0.637																																					p.D543G													.	BAIAP2	74	0			c.A1628G						.						52	59	57					17																	79090074		2202	4299	6501	SO:0001583	missense	10458	exon15			ACGGGGATGGGAG	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.1628A>G	17.37:g.79090074A>G	ENSP00000316338:p.Asp543Gly	34	0		42	4	NM_017451	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326017	0.41197	.	.	ENSG00000175866	ENST00000321300	T	0.26223	1.75	1.89	-3.79	0.04320	.	.	.	.	.	T	0.14700	0.0355	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23833	-1.0177	9	0.87932	D	0	.	6.9421	0.24498	0.2205:0.6221:0.1574:0.0	.	543	Q9UQB8	BAIP2_HUMAN	G	543	ENSP00000316338:D543G	ENSP00000316338:D543G	D	+	2	0	BAIAP2	76704669	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.954000	0.01525	-1.296000	0.02353	0.260000	0.18958	GAT	.		0.637	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			G	79090074	A	G	79090074	3	3	17	1	0	0	0	0	1	0	0	0	1302	333	12	4	1775	4	BAIAP2	17	79090074	Missense_Mutation	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09	5012428	79090074	2105136	148	2395											
MYO5B	4645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	47566596	47566596	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr18:47566596G>T	ENST00000285039.7	-	3	526	c.227C>A	c.(226-228)gCc>gAc	p.A76D		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	76	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)		ATAGCTAAGGGCAGTCAGGTC	0.458																																					p.A76D		.											.	.	.	0			c.C227A						.						293	283	286					18																	47566596		1928	4140	6068	SO:0001583	missense	4645	exon3			CTAAGGGCAGTCA	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.227C>A	18.37:g.47566596G>T	ENSP00000285039:p.Ala76Asp	57	0		30	4	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127544	0.77549	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.88201	-2.35	5.95	5.95	0.96441	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	L	0.60012	1.86	0.80722	D	1	B;B	0.18310	0.027;0.007	B;B	0.30316	0.114;0.009	T	0.83162	-0.0098	10	0.24483	T	0.36	.	18.9528	0.92646	0.0:0.0:1.0:0.0	.	75;76	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	D	76;75	ENSP00000285039:A76D	ENSP00000285039:A76D	A	-	2	0	MYO5B	45820594	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.966000	0.87956	2.817000	0.96982	0.563000	0.77884	GCC	.		0.458	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47566596	G	T	47566596	3	4	17	1	0	0	0	0	1	0	0	0	10117	1203	42	3	5471	3	MYO5B	18	47566596	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09		47566596	30510652	149	2396											
STK11	6794	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	1207097	1207098	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	AG	AG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr19:1207097_1207098delAG	ENST00000326873.7	+	1	1358_1359	c.185_186delAG	c.(184-186)aagfs	p.K62fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				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.?(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)		TCTTACGGCAAGGTGAAGGAGG	0.614		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																											p.62_62del		.	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	STK11,right_upper_lobe,carcinoma,0,2	STK11	0	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	c.184_185del						.																																			SO:0001589	frameshift_variant	6794	exon1	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	ACGGCAAGGTGAA	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.185_186delAG	19.37:g.1207097_1207098delAG	ENSP00000324856:p.Lys62fs	50	0		39	19	NM_000455	B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	CCDS45896.1																																																																																			.		0.614	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		-	1207098	AG	-	1207097	7	5	17	1	0	1	0	1	0	0	0	0	15334	72	3	0	187	0	STK11	19	1207097	Frame_Shift_Del	DEL	AG	TCGA-W5-AA2X-01A-11D-A417-09		1207097	57921886	150	2397											
DOT1L	84444	bcgsc.ca	37	19	2189743	2189743	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr19:2189743G>T	ENST00000398665.3	+	4	249	c.213G>T	c.(211-213)atG>atT	p.M71I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	71	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TCGAGAGCATGCAGAGGCTCT	0.622																																					p.M71I													.	DOT1L	205	0			c.G213T						.						62	70	67					19																	2189743		2125	4236	6361	SO:0001583	missense	84444	exon4			GAGCATGCAGAGG	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.213G>T	19.37:g.2189743G>T	ENSP00000381657:p.Met71Ile	26	0		14	3	NM_032482	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685321	0.68157	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.20200	2.09;2.09	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	L	0.60455	1.87	0.58432	D	0.999998	D	0.54047	0.964	D	0.69307	0.963	T	0.41215	-0.9521	10	0.87932	D	0	-29.9156	14.7259	0.69343	0.0:0.0:1.0:0.0	.	71	Q8TEK3-2	.	I	71	ENSP00000381657:M71I;ENSP00000404284:M71I	ENSP00000221482:M71I	M	+	3	0	DOT1L	2140743	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	8.655000	0.91098	1.989000	0.58080	0.313000	0.20887	ATG	.		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2189743	G	T	2189743	3	4	17	1	0	0	0	0	1	0	0	0	4723	1319	46	3	227	3	DOT1L	19	2189743	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	982646	2189743	56939240	151	2398											
KEAP1	9817	broad.mit.edu;bcgsc.ca	37	19	10602675	10602680	+	In_Frame_Del	DEL	CAGGTA	CAGGTA	-			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr19:10602675_10602680delCAGGTA	ENST00000171111.5	-	3	1445_1450	c.898_903delTACCTG	c.(898-903)tacctgdel	p.YL300del	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_In_Frame_Del_p.YL300del	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	300					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)	AGATCTTGACCAGGTAGTCCTTGCAG	0.655																																					p.300_301del													.	KEAP1	182	0			c.898_903del						.																																			SO:0001651	inframe_deletion	9817	exon3			CTTGACCAGGTAG	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.898_903delTACCTG	19.37:g.10602675_10602680delCAGGTA	ENSP00000171111:p.Tyr300_Leu301del	35	0		18	6	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	In_Frame_Del	DEL	ENST00000171111.5	37	CCDS12239.1																																																																																			.		0.655	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		-	10602680	CAGGTA	-	10602675	7	5	17	1	0	1	0	1	0	0	0	0	8168	581	21	0	987	0	KEAP1	19	10602675	In_Frame_Del	DEL	CAGGTA	TCGA-W5-AA2X-01A-11D-A417-09	8412932	10602675	48526308	152	2399											
MLL4	9757	hgsc.bcm.edu	37	19	36213993	36213993	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr19:36213993G>T	ENST00000222270.7	+	6	2819	c.2819G>T	c.(2818-2820)gGt>gTt	p.G940V	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.G940V	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	940					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)										GAGCCCACAGGTTCTGGAGGG	0.642																																					p.G940V		.											.	.	.	0			c.G2819T						.						37	47	44					19																	36213993		2070	4201	6271	SO:0001583	missense	8085	exon6			CCACAGGTTCTGG	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.2819G>T	19.37:g.36213993G>T	ENSP00000222270:p.Gly940Val	50	0		71	4	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	8.771	0.925900	0.18056	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83673	-1.75;-1.75	5.82	4.77	0.60923	.	0.000000	0.41097	D	0.000942	T	0.73877	0.3643	L	0.36672	1.1	0.80722	D	1	B	0.29909	0.261	B	0.20184	0.028	T	0.71922	-0.4446	10	0.45353	T	0.12	.	12.0648	0.53581	0.0:0.0:0.8278:0.1722	.	940	Q9UMN6	MLL4_HUMAN	V	940	ENSP00000222270:G940V;ENSP00000398837:G940V	ENSP00000222270:G940V	G	+	2	0	AD000671.1	40905833	1.000000	0.71417	0.847000	0.33407	0.154000	0.21943	2.891000	0.48617	1.424000	0.47217	0.655000	0.94253	GGT	.		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36213993	G	T	36213993	3	4	17	1	0	0	0	0	1	0	0	0	9661	1261	44	3	2841	3	MLL4	19	36213993	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	25611318	36213993	22914990	153	2400											
LILRA1	11024	hgsc.bcm.edu	37	19	55106239	55106239	+	Silent	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr19:55106239G>A	ENST00000251372.3	+	4	362	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|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		.											LILRA1,NS,carcinoma,0,3	LILRA1	0	3	Substitution - coding silent(3)	kidney(3)	c.G180A						.						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		41	0		36	2	NM_006863	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																			.		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		A	55106239	G	A	55106239	2	1	17	1	0	0	0	0	0	0	0	1	8813	1364	48	3		3	LILRA1	19	55106239	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	18892246	55106239	4022744	154	2401											
PTPRH	5794	hgsc.bcm.edu	37	19	55697250	55697250	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr19:55697250G>A	ENST00000376350.3	-	17	2903	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	PTPRH_ENST00000263434.5_Missense_Mutation_p.R783W	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	961	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGCAGTTCCCGCACCGTCCAG	0.622																																					p.R961W		.											.	.	.	0			c.C2881T						.						97	82	87					19																	55697250		2203	4300	6503	SO:0001583	missense	5794	exon17			GTTCCCGCACCGT		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2881C>T	19.37:g.55697250G>A	ENSP00000365528:p.Arg961Trp	10	0		19	4	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457728	0.63401	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.15952	2.38;2.38	5.06	-0.158	0.13383	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.34676	N	0.003773	T	0.52629	0.1746	H	0.96970	3.915	0.49687	D	0.999817	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67991	-0.5527	10	0.87932	D	0	.	13.6105	0.62076	0.0:0.0:0.4542:0.5458	.	783;961	C9JCH2;Q9HD43	.;PTPRH_HUMAN	W	961;783	ENSP00000365528:R961W;ENSP00000263434:R783W	ENSP00000263434:R783W	R	-	1	2	PTPRH	60389062	0.664000	0.27457	0.001000	0.08648	0.012000	0.07955	0.837000	0.27558	-0.074000	0.12820	0.650000	0.86243	CGG	.		0.622	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			A	55697250	G	A	55697250	3	1	17	1	0	0	0	0	1	0	0	0	12848	1086	38	1	482	1	PTPRH	19	55697250	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	591011	55697250	3431733	155	2402											
UBOX5	22888	hgsc.bcm.edu	37	20	3102954	3102954	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr20:3102954C>T	ENST00000217173.2	-	3	802	c.331G>A	c.(331-333)Gac>Aac	p.D111N	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.D111N	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GCCTCCTTGTCTGGGACAGAT	0.572																																					p.D111N		.											UBOX5,right_upper_lobe,carcinoma,0,1	UBOX5	0	0			c.G331A						.						56	55	55					20																	3102954		2203	4300	6503	SO:0001583	missense	22888	exon3			CCTTGTCTGGGAC	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.331G>A	20.37:g.3102954C>T	ENSP00000217173:p.Asp111Asn	29	0		46	2	NM_014948		Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949873	0.53186	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.35605	1.3;1.3	5.32	4.38	0.52667	.	0.660669	0.14915	U	0.291000	T	0.36220	0.0959	L	0.50919	1.6	0.36742	D	0.882288	B;B;B	0.16802	0.01;0.019;0.01	B;B;B	0.16289	0.011;0.015;0.011	T	0.37911	-0.9685	10	0.87932	D	0	-2.6511	14.1524	0.65395	0.0:0.9274:0.0:0.0726	.	111;111;111	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	N	111	ENSP00000217173:D111N;ENSP00000311726:D111N	ENSP00000217173:D111N	D	-	1	0	UBOX5	3050954	0.828000	0.29307	0.913000	0.36048	0.906000	0.53458	1.474000	0.35398	1.232000	0.43678	0.563000	0.77884	GAC	.		0.572	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		T	3102954	C	T	3102954	3	4	17	1	0	0	0	0	1	0	0	0	16943	913	32	3	1306	3	UBOX5	20	3102954	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		3102954	59922566	156	2403											
CHGB	1114	hgsc.bcm.edu	37	20	5903817	5903817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr20:5903817G>T	ENST00000378961.4	+	4	1231	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	343						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGAATATGGAGAAGAAATAAA	0.527																																					p.E343X		.											CHGB,NS,carcinoma,0,1	CHGB	0	0			c.G1027T						.						62	66	65					20																	5903817		2203	4300	6503	SO:0001587	stop_gained	1114	exon4			TATGGAGAAGAAA		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1027G>T	20.37:g.5903817G>T	ENSP00000368244:p.Glu343*	24	0		34	2	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566780	0.65651	.	.	ENSG00000089199	ENST00000378961	.	.	.	5.45	5.45	0.79879	.	0.246239	0.33572	N	0.004777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.5289	13.8076	0.63243	0.0:0.0:0.8466:0.1534	.	.	.	.	X	343	.	ENSP00000368244:E343X	E	+	1	0	CHGB	5851817	0.870000	0.30015	0.151000	0.22473	0.036000	0.12997	4.870000	0.63035	2.547000	0.85894	0.563000	0.77884	GAA	.		0.527	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5903817	G	T	5903817	4	4	17	1	0	0	0	0	0	1	0	0	3346	943	33	3	1041	3	CHGB	20	5903817	Nonsense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	2800863	5903817	57121703	157	2404											
C20orf70	140683	hgsc.bcm.edu	37	20	31761957	31761957	+	Silent	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr20:31761957G>T	ENST00000253362.2	+	4	521	c.375G>T	c.(373-375)ctG>ctT	p.L125L	BPIFA2_ENST00000354932.5_Silent_p.L125L			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	125						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GCCTTAACCTGAGCTTCCCTG	0.517																																					p.L125L		.											.	.	.	0			c.G375T						.						194	136	156					20																	31761957		2203	4300	6503	SO:0001819	synonymous_variant	140683	exon4			TAACCTGAGCTTC	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.375G>T	20.37:g.31761957G>T		32	0		50	4	NM_080574	Q9BQQ0	Silent	SNP	ENST00000253362.2	37	CCDS13214.1																																																																																			.		0.517	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		T	31761957	G	T	31761957	2	4	17	1	0	0	0	0	0	0	0	1	2123	1277	45	3		3	C20orf70	20	31761957	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	25858140	31761957	31263563	158	2405											
NCOA3	8202	hgsc.bcm.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	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						agcagcagcagcaacagcagc	0.547																																					p.Q1253Q		.											NCOA3,NS,carcinoma,0,3	NCOA3	0	0			c.G3759A						.						46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202	exon20			GCAGCAGCAACAG	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.3759G>A	20.37:g.46279833G>A		31	1		31	2	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			.		0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46279833	G	A	46279833	2	1	17	1	0	0	0	0	0	0	0	1	10269	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	14517876	46279833	16745687	159	2406											
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	57415343	57415343	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr20:57415343G>A	ENST00000313949.7	+	1	571	c.182G>A	c.(181-183)cGc>cAc	p.R61H	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R61H|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R61H			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCAACAGCGCCGGAGCTTC	0.692			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											p.R61H	Colon(117;935 1597 6045 8307 46442)	.		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	.	.	.	0			c.G182A						.						30	37	35					20																	57415343		2202	4291	6493	SO:0001583	missense	2778	exon1			AACAGCGCCGGAG	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.182G>A	20.37:g.57415343G>A	ENSP00000323571:p.Arg61His	36	0		49	25	NM_016592	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405563	0.62288	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	T	0.54398	0.1856	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.57814	-0.7746	8	0.72032	D	0.01	.	11.3015	0.49309	0.0:0.0:1.0:0.0	.	61	O95467	GNAS3_HUMAN	H	61	.	ENSP00000323571:R61H	R	+	2	0	GNAS	56848738	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.556000	0.36288	2.390000	0.81377	0.460000	0.39030	CGC	.		0.692	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		A	57415343	G	A	57415343	3	1	17	1	0	0	0	0	1	0	0	0	6536	1087	38	1	184	1	GNAS	20	57415343	Missense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	11135510	57415343	5610177	160	2407											
ADRM1	11047	hgsc.bcm.edu	37	20	60879633	60879633	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr20:60879633G>T	ENST00000253003.2	+	3	376	c.330G>T	c.(328-330)caG>caT	p.Q110H	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	110	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)			TCTGGATGCAGGTATGGGGCA	0.557																																					p.Q110H		.											.	.	.	0			c.G330T						.						159	156	157					20																	60879633		2203	4298	6501	SO:0001630	splice_region_variant	11047	exon3			GATGCAGGTATGG	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.330+1G>T	20.37:g.60879633G>T		42	0		46	2	NM_175573	A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383954	0.82792	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.87732	0.6251	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;0.981	D;D	0.91635	0.999;0.988	D	0.92062	0.5657	9	0.87932	D	0	-14.5783	17.4309	0.87539	0.0:0.0:1.0:0.0	.	110;110	B4DMP7;Q16186	.;ADRM1_HUMAN	H	110	.	ENSP00000253003:Q110H	Q	+	3	2	ADRM1	60313028	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.249000	0.72427	2.209000	0.71365	0.655000	0.94253	CAG	.		0.557	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1		Missense_Mutation	T	60879633	G	T	60879633	5	4	17	1	0	0	0	0	0	0	1	0	345	1014	35	3	336	3	ADRM1	20	60879633	Splice_Site	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	3464290	60879633	2145887	161	2408											
SYNJ1	8867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	34060664	34060664	+	Missense_Mutation	SNP	C	C	T	rs201796096		TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr21:34060664C>T	ENST00000322229.7	-	6	802	c.803G>A	c.(802-804)cGt>cAt	p.R268H	SYNJ1_ENST00000382499.2_Missense_Mutation_p.R307H|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R307H|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R268H|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R268H			O43426	SYNJ1_HUMAN	synaptojanin 1	268	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CATACGGACACGATGAGATCC	0.348																																					p.R307H		.											.	.	.	0			c.G920A						.						79	66	70					21																	34060664		2203	4300	6503	SO:0001583	missense	8867	exon7			CGGACACGATGAG	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.803G>A	21.37:g.34060664C>T	ENSP00000322234:p.Arg268His	39	0		36	24	NM_203446	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674236	0.67928	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Synaptojanin, N-terminal (2);	0.089655	0.85682	D	0.000000	T	0.63827	0.2544	L	0.37897	1.145	0.80722	D	1	D;P;D;P;D	0.89917	1.0;0.555;1.0;0.796;1.0	D;B;D;B;D	0.76071	0.98;0.252;0.984;0.362;0.987	T	0.51180	-0.8738	10	0.11794	T	0.64	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	268;307;268;268;268	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	H	268;268;307;307;268;268	ENSP00000371931:R268H;ENSP00000349903:R268H;ENSP00000371939:R307H;ENSP00000409667:R307H;ENSP00000322234:R268H;ENSP00000413649:R268H	ENSP00000322234:R268H	R	-	2	0	SYNJ1	32982535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.193000	0.77780	2.937000	0.99478	0.650000	0.86243	CGT	0.001		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	34060664	C	T	34060664	3	4	17	1	0	0	0	0	1	0	0	0	15499	536	19	1	4056	1	SYNJ1	21	34060664	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		34060664	14069231	162	2409											
EIF4ENIF1	56478	hgsc.bcm.edu	37	22	31859005	31859005	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chr22:31859005C>T	ENST00000397525.1	-	6	923	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E234K|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E234K|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	234						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						CCAGTCAGTTCGATGGTTTCA	0.443																																					p.E234K		.											EIF4ENIF1,colon,carcinoma,0,1	EIF4ENIF1	0	0			c.G700A						.						126	106	113					22																	31859005		2203	4300	6503	SO:0001583	missense	56478	exon6			TCAGTTCGATGGT	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.700G>A	22.37:g.31859005C>T	ENSP00000380659:p.Glu234Lys	30	0		49	2	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704650	0.96812	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.66	5.66	0.87406	.	0.100020	0.64402	D	0.000002	T	0.79947	0.4534	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79671	-0.1706	9	0.54805	T	0.06	-18.9548	18.7679	0.91880	0.0:1.0:0.0:0.0	.	234	Q9NRA8	4ET_HUMAN	K	234	.	ENSP00000328103:E234K	E	-	1	0	EIF4ENIF1	30189005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.220000	0.78008	2.857000	0.98124	0.650000	0.86243	GAA	.		0.443	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		T	31859005	C	T	31859005	3	4	17	1	0	0	0	0	1	0	0	0	5051	893	31	1	2316	1	EIF4ENIF1	22	31859005	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		31859005	19445561	163	2410											
TRO	7216	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	X	54950954	54950954	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chrX:54950954C>T	ENST00000173898.7	+	4	1419	c.1307C>T	c.(1306-1308)gCa>gTa	p.A436V	TRO_ENST00000319167.8_Missense_Mutation_p.A436V|TRO_ENST00000420798.2_5'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.A39V|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.A39V|TRO_ENST00000375022.4_Missense_Mutation_p.A436V|TRO_ENST00000484031.1_3'UTR	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	436					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CGGAGGCCTGCACCACCGCGA	0.512																																					p.A436V		.											.	.	.	0			c.C1307T						.						53	50	51					X																	54950954		2011	4164	6175	SO:0001583	missense	7216	exon4			GGCCTGCACCACC	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1307C>T	X.37:g.54950954C>T	ENSP00000173898:p.Ala436Val	27	0		42	4	NM_016157	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	0.597	-0.830626	0.02734	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000431115;ENST00000375041	T;T;T;T;T;T	0.16597	4.06;3.76;3.76;3.48;2.33;3.66	2.65	0.829	0.18847	.	.	.	.	.	T	0.06554	0.0168	N	0.03608	-0.345	0.09310	N	0.999995	B;B;B;B	0.17268	0.012;0.001;0.021;0.021	B;B;B;B	0.17979	0.005;0.002;0.02;0.005	T	0.33675	-0.9859	9	0.62326	D	0.03	.	2.346	0.04271	0.2396:0.4607:0.0:0.2997	.	39;39;436;436	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	V	436;436;436;39;39;39;39	ENSP00000173898:A436V;ENSP00000318278:A436V;ENSP00000364162:A436V;ENSP00000382641:A39V;ENSP00000407996:A39V;ENSP00000364181:A39V	ENSP00000173898:A436V	A	+	2	0	TRO	54967679	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.102000	0.10956	0.091000	0.17302	0.422000	0.28245	GCA	.		0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		T	54950954	C	T	54950954	3	4	17	1	0	0	0	0	1	0	0	0	16622	710	25	3	1317	3	TRO	23	54950954	Missense_Mutation	SNP	C	TCGA-W5-AA2X-01A-11D-A417-09		54950954	100319606	164	2411											
PHKA1	5255	broad.mit.edu	37	X	71839078	71839078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chrX:71839078G>A	ENST00000373542.4	-	20	2374	c.2215C>T	c.(2215-2217)Cga>Tga	p.R739*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.R680*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.R739*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.R680*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.R739*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	739					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)					TTCTCCTGTCGGGGATGAGGT	0.383																																					p.R739X													.	PHKA1	129	0			c.C2215T						.						66	58	60					X																	71839078		2203	4300	6503	SO:0001587	stop_gained	5255	exon20			CCTGTCGGGGATG		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.2215C>T	X.37:g.71839078G>A	ENSP00000362643:p.Arg739*	82	0		122	8	NM_002637	B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	g	37	6.585036	0.97684	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.16	-0.274	0.12910	.	1.832770	0.02327	N	0.073597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-6.0E-4	4.6141	0.12417	0.4456:0.1567:0.3977:0.0	.	.	.	.	X	680;739;680;739;739	.	ENSP00000342469:R739X	R	-	1	2	PHKA1	71755803	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.299000	0.19138	-0.620000	0.05641	0.509000	0.49947	CGA	.		0.383	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71839078	G	A	71839078	4	1	17	1	0	0	0	0	0	1	0	0	11882	1124	39	1	1508	1	PHKA1	23	71839078	Nonsense_Mutation	SNP	G	TCGA-W5-AA2X-01A-11D-A417-09	16888124	71839078	83431482	165	2412											
PHKA1	5255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	71932695	71932695	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chrX:71932695A>G	ENST00000373542.4	-	2	322	c.163T>C	c.(163-165)Tgg>Cgg	p.W55R	PHKA1_ENST00000541944.1_Missense_Mutation_p.W55R|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000373539.3_Missense_Mutation_p.W55R|PHKA1_ENST00000373545.3_Missense_Mutation_p.W55R|PHKA1_ENST00000339490.3_Missense_Mutation_p.W55R	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	55					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)					CCCAAACCCCACACAGCCAAG	0.473																																					p.W55R		.											.	.	.	0			c.T163C						.						63	53	56					X																	71932695		2203	4297	6500	SO:0001583	missense	5255	exon2			AACCCCACACAGC		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.163T>C	X.37:g.71932695A>G	ENSP00000362643:p.Trp55Arg	18	0		27	23	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164793	0.78339	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	4.52	4.52	0.55395	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.056535	0.85682	D	0.000000	D	0.96175	0.8753	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	0.999;1.0;1.0	D	0.96596	0.9441	10	0.87932	D	0	-5.8748	10.9069	0.47086	1.0:0.0:0.0:0.0	.	55;55;55	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	R	55	ENSP00000362646:W55R;ENSP00000362643:W55R;ENSP00000441251:W55R;ENSP00000342469:W55R;ENSP00000362640:W55R	ENSP00000342469:W55R	W	-	1	0	PHKA1	71849420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.981000	0.93465	1.773000	0.52216	0.486000	0.48141	TGG	.		0.473	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			G	71932695	A	G	71932695	3	3	17	1	0	0	0	0	1	0	0	0	11882	159	6	4	3632	4	PHKA1	23	71932695	Missense_Mutation	SNP	A	TCGA-W5-AA2X-01A-11D-A417-09	93617	71932695	83337865	166	2413											
MAGEE1	57692	broad.mit.edu	37	X	75648348	75648350	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-W5-AA2X-01A-11D-A417-09	TCGA-W5-AA2X-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afef815a-3e3b-497a-acf5-e9713ec6617f	ba2e4258-c494-4727-b7c4-7d24a61ce6ce	g.chrX:75648348_75648350delCGC	ENST00000361470.2	+	1	303_305	c.25_27delCGC	c.(25-27)cgcdel	p.R14del		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	14	Poly-Arg.					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						CCAGAATTcgcgccgccgccgcc	0.665																																					p.9_9del													.	MAGEE1	236	0			c.25_27del						.			72,3531		2,46,22,1505,475						1.4	1			14	144,6194		5,74,60,2248,1624	no	coding	MAGEE1	NM_020932.2		7,120,82,3753,2099	A1A1,A1R,A1,RR,R		2.272,1.9983,2.1728				216,9725				SO:0001651	inframe_deletion	57692	exon1			AATTCGCGCCGCC	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.25_27delCGC	X.37:g.75648357_75648359delCGC	ENSP00000354912:p.Arg14del	40	0		74	7	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	In_Frame_Del	DEL	ENST00000361470.2	37	CCDS14433.1																																																																																			.		0.665	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		-	75648350	CGC	-	75648348	7	5	17	1	0	1	0	1	0	0	0	0	9223	768	27	0	27	0	MAGEE1	23	75648348	In_Frame_Del	DEL	CGC	TCGA-W5-AA2X-01A-11D-A417-09	3715653	75648348	79622212	167	2414											
NPHP4	261734	hgsc.bcm.edu	37	1	5951028	5951028	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:5951028C>A	ENST00000378156.4	-	17	2469	c.2204G>T	c.(2203-2205)cGg>cTg	p.R735L	NPHP4_ENST00000478423.2_5'UTR|AL356261.1_ENST00000585151.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	735			R -> W (in NPHP4; dbSNP:rs191913664). {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)		AAAGCAGCGCCGCTCACCTGG	0.602																																					p.R735L		.											NPHP4,colon,carcinoma,0,1	NPHP4	0	0			c.G2204T						.						23	25	24					1																	5951028		1968	4142	6110	SO:0001583	missense	261734	exon17			CAGCGCCGCTCAC	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.2204G>T	1.37:g.5951028C>A	ENSP00000367398:p.Arg735Leu	32	0		36	2	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787558	0.31593	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.87809	-2.3	5.61	-1.25	0.09405	.	0.588511	0.16061	N	0.231488	T	0.70710	0.3255	N	0.24115	0.695	0.31010	N	0.71935	P	0.35527	0.507	B	0.31869	0.137	T	0.64799	-0.6322	10	0.48119	T	0.1	.	1.8002	0.03070	0.1324:0.3265:0.1366:0.4045	.	735	O75161	NPHP4_HUMAN	L	735;138	ENSP00000367398:R735L	ENSP00000367398:R735L	R	-	2	0	NPHP4	5873615	0.770000	0.28543	0.964000	0.40570	0.147000	0.21601	-0.089000	0.11180	-0.173000	0.10761	0.591000	0.81541	CGG	.		0.602	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			A	5951028	C	A	5951028	3	1	18	1	0	0	0	0	1	0	0	0	10620	652	23	2	2132	2	NPHP4	1	5951028	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09		5951028	243299593	1	2415											
DMAP1	55929	hgsc.bcm.edu	37	1	44684374	44684374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:44684374G>T	ENST00000372289.2	+	5	930	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	DMAP1_ENST00000361745.6_Nonsense_Mutation_p.E223*|DMAP1_ENST00000315913.5_Nonsense_Mutation_p.E223*|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	223					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TGCTGGGCACGAACGACGGCG	0.572											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E223X		.											DMAP1,NS,carcinoma,0,1	DMAP1	0	0			c.G667T						.						121	114	116					1																	44684374		2203	4300	6503	SO:0001587	stop_gained	55929	exon6			GGGCACGAACGAC	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.667G>T	1.37:g.44684374G>T	ENSP00000361363:p.Glu223*	35	0	925	43	2	NM_001034024	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Nonsense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497540	0.96355	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.0561	20.0263	0.97523	0.0:0.0:1.0:0.0	.	.	.	.	X	223;223;249;223;249;223;223	.	ENSP00000312697:E223X	E	+	1	0	DMAP1	44456961	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.359000	0.97115	2.735000	0.93741	0.655000	0.94253	GAA	.		0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		T	44684374	G	T	44684374	4	4	18	1	0	0	0	0	0	1	0	0	4590	1059	37	2	685	2	DMAP1	1	44684374	Nonsense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	38733346	44684374	204566247	2	2416											
NRD1	4898	bcgsc.ca	37	1	52276063	52276063	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:52276063G>T	ENST00000354831.7	-	18	2186	c.1997C>A	c.(1996-1998)gCc>gAc	p.A666D	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.A598D|NRD1_ENST00000544028.1_Missense_Mutation_p.A466D|NRD1_ENST00000539524.1_Missense_Mutation_p.A534D	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	597					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						CTGATTCAAGGCTTCACCAAT	0.378																																					p.A666D													.	NRD1	89	0			c.C1997A						.						81	76	78					1																	52276063		2203	4300	6503	SO:0001583	missense	4898	exon18			TTCAAGGCTTCAC	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.1997C>A	1.37:g.52276063G>T	ENSP00000346890:p.Ala666Asp	88	1		89	4	NM_002525	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.753021|4.753021	0.89753|0.89753	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028|ENST00000440943	T;T;T;T|.	0.33216|.	1.42;1.44;1.43;1.44|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.137344|.	0.64402|.	D|.	0.000003|.	T|T	0.78272|0.78272	0.4257|0.4257	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.72338|.	0.977;0.949;0.972|.	T|T	0.77744|0.77744	-0.2473|-0.2473	10|5	0.66056|.	D|.	0.02|.	-8.7349|-8.7349	18.8899|18.8899	0.92395|0.92395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	598;597;666|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	D|R	598;666;534;68;598;466|52	ENSP00000262679:A598D;ENSP00000346890:A666D;ENSP00000444416:A534D;ENSP00000442262:A466D|.	ENSP00000262679:A598D|.	A|S	-|-	2|3	0|2	NRD1|NRD1	52048651|52048651	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.716000|0.716000	0.41182|0.41182	6.226000|6.226000	0.72277|0.72277	2.707000|2.707000	0.92482|0.92482	0.561000|0.561000	0.74099|0.74099	GCC|AGC	.		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		T	52276063	G	T	52276063	3	4	18	1	0	0	0	0	1	0	0	0	10684	1203	42	3	1726	3	NRD1	1	52276063	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	7591689	52276063	196974558	3	2417											
CELSR2	1952	hgsc.bcm.edu	37	1	109813581	109813581	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:109813581G>T	ENST00000271332.3	+	25	7577	c.7516G>T	c.(7516-7518)Ggg>Tgg	p.G2506W	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2506					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)	p.G2506W(1)		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)		CGAGGGCTACGGGAACCCTGA	0.642																																					p.G2506W	NSCLC(158;1285 2011 34800 34852 42084)	.											CELSR2,colon,NS,0,1	CELSR2	0	1	Substitution - Missense(1)	large_intestine(1)	c.G7516T						.						158	151	153					1																	109813581		2203	4300	6503	SO:0001583	missense	1952	exon25			GGCTACGGGAACC	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.7516G>T	1.37:g.109813581G>T	ENSP00000271332:p.Gly2506Trp	39	1		45	2	NM_001408	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650366	0.87958	.	.	ENSG00000143126	ENST00000271332	T	0.49139	0.79	4.59	4.59	0.56863	GPCR, family 2-like (1);	.	.	.	.	T	0.78278	0.4258	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87155	0.2211	9	0.87932	D	0	.	17.5928	0.88001	0.0:0.0:1.0:0.0	.	2506	Q9HCU4	CELR2_HUMAN	W	2506	ENSP00000271332:G2506W	ENSP00000271332:G2506W	G	+	1	0	CELSR2	109615104	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.366000	0.79548	2.377000	0.81083	0.561000	0.74099	GGG	.		0.642	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109813581	G	T	109813581	3	4	18	1	0	0	0	0	1	0	0	0	3229	1116	39	2	7614	2	CELSR2	1	109813581	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	57537518	109813581	139437040	4	2418											
RPRD2	23248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	150445250	150445250	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:150445250C>T	ENST00000369068.4	+	11	3830	c.3826C>T	c.(3826-3828)Cct>Tct	p.P1276S	RPRD2_ENST00000401000.4_Missense_Mutation_p.P1250S|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1276	Pro-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						TCCTCCCCCTCCTGGGGAACA	0.627																																					p.P1276S		.											.	.	.	0			c.C3826T						.						67	73	71					1																	150445250		2007	4168	6175	SO:0001583	missense	23248	exon11			CCCCCTCCTGGGG	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.3826C>T	1.37:g.150445250C>T	ENSP00000358064:p.Pro1276Ser	65	0		79	21	NM_015203	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723668	0.30593	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.61859	0.08;0.07	4.58	2.71	0.32032	.	0.079450	0.50627	N	0.000104	T	0.26304	0.0642	L	0.29908	0.895	0.80722	D	1	B;B	0.19331	0.02;0.035	B;B	0.14023	0.004;0.01	T	0.13098	-1.0522	10	0.56958	D	0.05	-4.3649	10.0149	0.42008	0.0:0.7714:0.0:0.2286	.	1276;1250	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	S	1250;1276	ENSP00000383785:P1250S;ENSP00000358064:P1276S	ENSP00000358064:P1276S	P	+	1	0	RPRD2	148711874	0.526000	0.26298	0.993000	0.49108	0.773000	0.43773	0.900000	0.28431	0.551000	0.29008	-0.143000	0.13931	CCT	.		0.627	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		T	150445250	C	T	150445250	3	4	18	1	0	0	0	0	1	0	0	0	13662	855	30	3	3868	3	RPRD2	1	150445250	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	40631669	150445250	98805371	5	2419											
IVL	3713	hgsc.bcm.edu;bcgsc.ca	37	1	152883026	152883026	+	Silent	SNP	G	G	A	rs45544033	byFrequency	TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:152883026G>A	ENST00000368764.3	+	2	817	c.753G>A	c.(751-753)ggG>ggA	p.G251G	IVL_ENST00000392667.2_Silent_p.G105G			P07476	INVO_HUMAN	involucrin	251	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)			agcaggaggggcagctggagc	0.667																																					p.G251G		.											.	.	.	0			c.G753A						.						8	9	8					1																	152883026		1963	3875	5838	SO:0001819	synonymous_variant	3713	exon2			GGAGGGGCAGCTG	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.753G>A	1.37:g.152883026G>A		26	0		39	7	NM_005547	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																			.		0.667	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		A	152883026	G	A	152883026	2	1	18	1	0	0	0	0	0	0	0	1	7956	1190	42	3		3	IVL	1	152883026	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	2437776	152883026	96367595	6	2420											
ARHGEF11	9826	hgsc.bcm.edu;bcgsc.ca	37	1	156914912	156914912	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:156914912C>T	ENST00000361409.2	-	29	3512	c.2770G>A	c.(2770-2772)Gta>Ata	p.V924I	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.V340I|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.V964I|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	924					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)					GTTTGTTTTACCGCTTCATTC	0.567																																					p.V964I		.											.	.	.	0			c.G2890A						.						104	107	106					1																	156914912		2203	4300	6503	SO:0001583	missense	9826	exon30			GTTTTACCGCTTC	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.2770G>A	1.37:g.156914912C>T	ENSP00000354644:p.Val924Ile	42	0		66	4	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200697	0.94997	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.69175	-0.38;-0.38;-0.38	5.28	5.28	0.74379	Dbl homology (DH) domain (2);	0.000000	0.52532	D	0.000074	T	0.73418	0.3584	L	0.48642	1.525	0.80722	D	1	B;D;D	0.76494	0.432;0.999;0.999	B;D;D	0.85130	0.323;0.988;0.997	T	0.71626	-0.4536	10	0.45353	T	0.12	-19.0723	18.6972	0.91605	0.0:1.0:0.0:0.0	.	340;924;964	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	I	964;924;340	ENSP00000357177:V964I;ENSP00000354644:V924I;ENSP00000313470:V340I	ENSP00000313470:V340I	V	-	1	0	ARHGEF11	155181536	1.000000	0.71417	0.929000	0.37066	0.757000	0.42996	7.364000	0.79526	2.756000	0.94617	0.650000	0.86243	GTA	.		0.567	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		T	156914912	C	T	156914912	3	4	18	1	0	0	0	0	1	0	0	0	896	507	18	3	1846	3	ARHGEF11	1	156914912	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	4031886	156914912	92335709	7	2421											
SELL	6402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	169670703	169670703	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:169670703T>C	ENST00000236147.4	-	7	1278	c.1118A>G	c.(1117-1119)aAa>aGa	p.K373R	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	360					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)					TCACATACCTTTTTTTAATCT	0.363																																					p.K373R		.											.	.	.	0			c.A1118G						.						50	43	45					1																	169670703		1827	4076	5903	SO:0001583	missense	6402	exon7			ATACCTTTTTTTA	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.1118A>G	1.37:g.169670703T>C	ENSP00000236147:p.Lys373Arg	68	0		81	13	NM_000655	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639945	0.67244	.	.	ENSG00000188404	ENST00000236147	T	0.15487	2.42	5.64	3.31	0.37934	.	0.102711	0.42821	N	0.000660	T	0.05868	0.0153	L	0.49640	1.575	0.29673	N	0.842344	B;B	0.22080	0.058;0.064	B;B	0.17979	0.017;0.02	T	0.20773	-1.0265	10	0.45353	T	0.12	-3.1096	7.427	0.27105	0.0:0.1761:0.0:0.8239	.	373;360	Q8WW79;P14151	.;LYAM1_HUMAN	R	373	ENSP00000236147:K373R	ENSP00000236147:K373R	K	-	2	0	SELL	167937327	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	1.474000	0.35398	0.976000	0.38417	0.533000	0.62120	AAA	.		0.363	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		C	169670703	T	C	169670703	3	2	18	1	0	0	0	0	1	0	0	0	14061	1841	64	4	51	4	SELL	1	169670703	Missense_Mutation	SNP	T	TCGA-W5-AA2Z-01A-11D-A417-09	12755791	169670703	79579918	8	2422											
SELL	6402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	169670779	169670779	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:169670779A>G	ENST00000236147.4	-	7	1202	c.1042T>C	c.(1042-1044)Ttc>Ctc	p.F348L	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	335					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)					ACTGGAATGAAGAGGGGGTTA	0.393																																					p.F348L		.											.	.	.	0			c.T1042C						.						47	44	45					1																	169670779		1855	4096	5951	SO:0001583	missense	6402	exon7			GAATGAAGAGGGG	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.1042T>C	1.37:g.169670779A>G	ENSP00000236147:p.Phe348Leu	58	0		68	9	NM_000655	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726068	0.48833	.	.	ENSG00000188404	ENST00000236147	T	0.12879	2.64	5.79	4.67	0.58626	.	0.233907	0.30620	N	0.009227	T	0.05227	0.0139	L	0.49640	1.575	0.36082	D	0.842861	B;B	0.15930	0.015;0.015	B;B	0.15052	0.012;0.012	T	0.14587	-1.0467	10	0.32370	T	0.25	-18.0116	8.5476	0.33430	0.9134:0.0:0.0866:0.0	.	348;335	Q8WW79;P14151	.;LYAM1_HUMAN	L	348	ENSP00000236147:F348L	ENSP00000236147:F348L	F	-	1	0	SELL	167937403	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.247000	0.58750	1.028000	0.39785	0.533000	0.62120	TTC	.		0.393	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		G	169670779	A	G	169670779	3	3	18	1	0	0	0	0	1	0	0	0	14061	72	3	4	127	4	SELL	1	169670779	Missense_Mutation	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09	76	169670779	79579842	9	2423											
CACNA1E	777	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	181686266	181686266	+	Silent	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:181686266G>A	ENST00000367573.2	+	11	1353	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	CACNA1E_ENST00000358338.5_Silent_p.K402K|CACNA1E_ENST00000526775.1_Silent_p.K451K|CACNA1E_ENST00000367567.4_Silent_p.K58K|CACNA1E_ENST00000360108.3_Silent_p.K451K|CACNA1E_ENST00000357570.5_Silent_p.K402K|CACNA1E_ENST00000367570.1_Silent_p.K451K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	451					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						AAAGTGCAAAGGTAGACGGGG	0.517																																					p.K451K		.											.	.	.	0			c.G1353A						.						98	96	97					1																	181686266		1894	4118	6012	SO:0001819	synonymous_variant	777	exon11			TGCAAAGGTAGAC	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.1353G>A	1.37:g.181686266G>A		23	0		37	5	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.517	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181686266	G	A	181686266	2	1	18	1	0	0	0	0	0	0	0	1	2549	991	35	3		3	CACNA1E	1	181686266	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	12015487	181686266	67564355	10	2424											
LAMC1	3915	bcgsc.ca	37	1	183093839	183093839	+	Silent	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:183093839C>T	ENST00000258341.4	+	14	2732	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	825	Laminin EGF-like 7. {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						TGAGACTTTGCCGCCTGTGCC	0.507																																					p.C825C													.	LAMC1	176	0			c.C2475T						.						120	109	113					1																	183093839		2203	4300	6503	SO:0001819	synonymous_variant	3915	exon14			ACTTTGCCGCCTG	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.2475C>T	1.37:g.183093839C>T		39	0		54	4	NM_002293	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																			.		0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		T	183093839	C	T	183093839	2	4	18	1	0	0	0	0	0	0	0	1	8642	747	26	3		3	LAMC1	1	183093839	Silent	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	1407573	183093839	66156782	11	2425											
DSTYK	25778	hgsc.bcm.edu;bcgsc.ca	37	1	205132087	205132087	+	Silent	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr1:205132087C>T	ENST00000367162.3	-	5	1635	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S	DSTYK_ENST00000367161.3_Silent_p.S535S|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	535					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	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)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTGTAACTGACGACCCTGAGT	0.403																																					p.S535S		.											.	.	.	0			c.G1605A						.						206	191	196					1																	205132087		2203	4300	6503	SO:0001819	synonymous_variant	25778	exon5			AACTGACGACCCT	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1605G>A	1.37:g.205132087C>T		78	0		87	4	NM_199462	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	CCDS1451.1																																																																																			.		0.403	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		T	205132087	C	T	205132087	2	4	18	1	0	0	0	0	0	0	0	1	4799	523	19	1		1	DSTYK	1	205132087	Silent	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	22038248	205132087	44118534	12	2426											
IFT172	26160	hgsc.bcm.edu;bcgsc.ca	37	2	27702379	27702379	+	Silent	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr2:27702379G>A	ENST00000260570.3	-	10	1105	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	IFT172_ENST00000416524.2_Silent_p.S313S|IFT172_ENST00000359466.6_Silent_p.S334S	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	334					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGCTTACCTGGCTAGGTCCCA	0.488																																					p.S334S		.											.	.	.	0			c.C1002T						.						155	135	142					2																	27702379		2203	4300	6503	SO:0001819	synonymous_variant	26160	exon10			TACCTGGCTAGGT	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1002C>T	2.37:g.27702379G>A		77	0		60	4	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																			.		0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		A	27702379	G	A	27702379	2	1	18	1	0	0	0	0	0	0	0	1	7584	1194	42	3		3	IFT172	2	27702379	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		27702379	215496994	13	2427											
CCDC150	284992	hgsc.bcm.edu	37	2	197521765	197521765	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr2:197521765C>T	ENST00000389175.4	+	4	616	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	CCDC150_ENST00000472405.2_Missense_Mutation_p.R58C|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	161										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TATGAATTTGCGCCAGCAACT	0.468																																					p.R161C		.											CCDC150,NS,carcinoma,0,1	CCDC150	0	0			c.C481T						.						78	80	79					2																	197521765		1976	4165	6141	SO:0001583	missense	284992	exon4			AATTTGCGCCAGC		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.481C>T	2.37:g.197521765C>T	ENSP00000373827:p.Arg161Cys	25	0		33	2	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402346	0.25291	.	.	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.29917	1.55;1.55	4.78	4.78	0.61160	.	0.181068	0.38381	N	0.001706	T	0.27697	0.0681	L	0.54323	1.7	0.80722	D	1	B;B	0.29531	0.218;0.247	B;B	0.24269	0.022;0.052	T	0.07233	-1.0783	10	0.48119	T	0.1	-3.5953	10.9097	0.47101	0.0:0.9095:0.0:0.0905	.	161;161	Q8NCX0;F5H6M2	CC150_HUMAN;.	C	161;161;58	ENSP00000373827:R161C;ENSP00000441149:R58C	ENSP00000373827:R161C	R	+	1	0	CCDC150	197230010	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	2.384000	0.44362	2.485000	0.83878	0.655000	0.94253	CGC	.		0.468	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		T	197521765	C	T	197521765	3	4	18	1	0	0	0	0	1	0	0	0	2792	768	27	1	495	1	CCDC150	2	197521765	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	169819386	197521765	45677608	14	2428											
NBEAL1	65065	hgsc.bcm.edu	37	2	203995146	203995146	+	Missense_Mutation	SNP	G	G	T	rs376644554	byFrequency	TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr2:203995146G>T	ENST00000449802.1	+	24	3757	c.3424G>T	c.(3424-3426)Gca>Tca	p.A1142S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1142										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						CATACTGTACGCATTGCTCTT	0.398																																					p.A1142S		.											NBEAL1_ENST00000449802,colon,carcinoma,0,1	NBEAL1_ENST00000449802	0	0			c.G3424T						.						161	121	133					2																	203995146		692	1591	2283	SO:0001583	missense	65065	exon24			CTGTACGCATTGC	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.3424G>T	2.37:g.203995146G>T	ENSP00000399903:p.Ala1142Ser	24	0		42	2	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960316	0.74016	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.32988	1.43	5.33	5.33	0.75918	.	.	.	.	.	T	0.35480	0.0933	M	0.70275	2.135	0.49213	D	0.999761	P	0.43392	0.805	B	0.38755	0.281	T	0.18398	-1.0338	9	0.22109	T	0.4	.	18.9799	0.92751	0.0:0.0:1.0:0.0	.	1142	Q6ZS30	NBEL1_HUMAN	S	1142	ENSP00000399903:A1142S	ENSP00000344985:A1142S	A	+	1	0	NBEAL1	203703391	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.281000	0.58965	2.632000	0.89209	0.557000	0.71058	GCA	.		0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	203995146	G	T	203995146	3	4	18	1	0	0	0	0	1	0	0	0	10226	1087	38	2	3514	2	NBEAL1	2	203995146	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	6473381	203995146	39204227	15	2429											
SLC23A3	151295	hgsc.bcm.edu	37	2	220034386	220034386	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr2:220034386C>A	ENST00000409878.3	-	2	209	c.177G>T	c.(175-177)atG>atT	p.M59I	SLC23A3_ENST00000295738.7_Missense_Mutation_p.M59I|SLC23A3_ENST00000396775.3_Start_Codon_SNP_p.M1I|SLC23A3_ENST00000455516.2_Missense_Mutation_p.M59I	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.M59I(2)		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)		GCAGAGAAGCCATGACCAAGA	0.532																																					p.M59I		.											SLC23A3_ENST00000455516,NS,carcinoma,0,2	SLC23A3_ENST00000455516	0	2	Substitution - Missense(2)	lung(2)	c.G177T						.						62	81	74					2																	220034386		2101	4228	6329	SO:0001583	missense	151295	exon2			AGAAGCCATGACC	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.177G>T	2.37:g.220034386C>A	ENSP00000386473:p.Met59Ile	54	0		60	2	NM_001144890	B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482721	0.44147	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.34072	2.09;2.09;2.09;2.09;1.38	5.18	4.31	0.51392	.	0.417145	0.20140	N	0.098395	T	0.30510	0.0767	L	0.43152	1.355	0.80722	D	1	B;B;B	0.14438	0.01;0.0;0.0	B;B;B	0.13407	0.009;0.002;0.001	T	0.06180	-1.0841	9	.	.	.	.	13.0798	0.59107	0.0:0.9209:0.0:0.0791	.	59;59;59	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	I	1;59;59;59;59;59	ENSP00000295738:M59I;ENSP00000386473:M59I;ENSP00000406546:M59I;ENSP00000386989:M59I;ENSP00000388907:M59I	.	M	-	3	0	SLC23A3	219742630	0.889000	0.30405	0.894000	0.35097	0.907000	0.53573	1.233000	0.32648	1.424000	0.47217	0.655000	0.94253	ATG	.		0.532	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		A	220034386	C	A	220034386	3	1	18	1	0	0	0	0	1	0	0	0	14509	594	21	3	1723	3	SLC23A3	2	220034386	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	16039240	220034386	23164987	16	2430											
IQCA1	79781	hgsc.bcm.edu	37	2	237233410	237233410	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr2:237233410G>T	ENST00000409907.3	-	19	2664	c.2390C>A	c.(2389-2391)aCt>aAt	p.T797N	IQCA1_ENST00000309507.5_Missense_Mutation_p.T794N|IQCA1_ENST00000431676.2_Missense_Mutation_p.T756N	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	797							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACCCAGAGGAGTTTTGGCATA	0.388																																					p.T805N		.											.	.	.	0			c.C2414A						.						55	49	51					2																	237233410		1872	4098	5970	SO:0001583	missense	79781	exon19			AGAGGAGTTTTGG	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.2390C>A	2.37:g.237233410G>T	ENSP00000387347:p.Thr797Asn	53	0		76	4	NM_001270585	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493827	0.84962	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;T	0.94613	-3.47;-3.47;1.6	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.88775	2.98	0.58432	D	0.999996	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.71656	0.964;0.974;0.974	D	0.97688	1.0177	10	0.49607	T	0.09	.	17.351	0.87324	0.0:0.0:1.0:0.0	.	756;805;797	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	N	797;805;794;756	ENSP00000387347:T797N;ENSP00000311951:T794N;ENSP00000407213:T756N	ENSP00000311951:T794N	T	-	2	0	IQCA1	236898149	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.062000	0.89475	2.441000	0.82636	0.655000	0.94253	ACT	.		0.388	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		T	237233410	G	T	237233410	3	4	18	1	0	0	0	0	1	0	0	0	7829	1029	36	3	82	3	IQCA1	2	237233410	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	17199024	237233410	5965963	17	2431											
GPC1	2817	hgsc.bcm.edu;bcgsc.ca	37	2	241401740	241401740	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr2:241401740G>A	ENST00000264039.2	+	3	706	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	153					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)		CTGTACTACCGCGGTGCCAAC	0.677																																					p.R153H		.											.	.	.	0			c.G458A						.						20	21	21					2																	241401740		2185	4293	6478	SO:0001583	missense	2817	exon3			ACTACCGCGGTGC	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.458G>A	2.37:g.241401740G>A	ENSP00000264039:p.Arg153His	69	0		63	4	NM_002081	B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.41|14.41	2.527262|2.527262	0.44969|0.44969	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000427506;ENST00000425056|ENST00000264039;ENST00000426280	.|T;T	.|0.50548	.|0.74;0.74	3.1|3.1	2.2|2.2	0.27929|0.27929	.|.	.|0.181348	.|0.43919	.|N	.|0.000501	T|T	0.46502|0.46502	0.1396|0.1396	M|M	0.79475|0.79475	2.455|2.455	0.38617|0.38617	D|D	0.951056|0.951056	.|B	.|0.17465	.|0.022	.|B	.|0.21546	.|0.035	T|T	0.49523|0.49523	-0.8931|-0.8931	5|10	.|0.56958	.|D	.|0.05	-23.0764|-23.0764	7.9795|7.9795	0.30175|0.30175	0.1305:0.0:0.8695:0.0|0.1305:0.0:0.8695:0.0	.|.	.|153	.|P35052	.|GPC1_HUMAN	T|H	110;149|153;103	.|ENSP00000264039:R153H;ENSP00000410251:R103H	.|ENSP00000264039:R153H	A|R	+|+	1|2	0|0	GPC1|GPC1	241050413|241050413	0.993000|0.993000	0.37304|0.37304	0.707000|0.707000	0.30419|0.30419	0.855000|0.855000	0.48748|0.48748	2.285000|2.285000	0.43487|0.43487	0.637000|0.637000	0.30526|0.30526	0.586000|0.586000	0.80456|0.80456	GCG|CGC	.		0.677	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		A	241401740	G	A	241401740	3	1	18	1	0	0	0	0	1	0	0	0	6623	1087	38	1	468	1	GPC1	2	241401740	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	4168330	241401740	1797633	18	2432											
CNTN4	152330	hgsc.bcm.edu	37	3	3072560	3072560	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:3072560A>G	ENST00000397461.1	+	15	2068	c.1684A>G	c.(1684-1686)Atg>Gtg	p.M562V	CNTN4_ENST00000418658.1_Missense_Mutation_p.M562V|CNTN4_ENST00000358480.3_Missense_Mutation_p.M343V|CNTN4_ENST00000427331.1_Missense_Mutation_p.M562V|CNTN4_ENST00000397459.2_Missense_Mutation_p.M234V|CNTN4_ENST00000448906.2_Missense_Mutation_p.M234V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	562	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)		TGGTGATTTGATGATCCGAAA	0.438																																					p.M562V		.											CNTN4_ENST00000418658,NS,lymphoid_neoplasm,0,2	CNTN4_ENST00000418658	0	0			c.A1684G						.						143	132	136					3																	3072560		2203	4300	6503	SO:0001583	missense	152330	exon16			GATTTGATGATCC	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.1684A>G	3.37:g.3072560A>G	ENSP00000380602:p.Met562Val	55	0		47	2	NM_175607	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895130	0.72639	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.56280	1.765	0.80722	D	1	D;P;D	0.69078	0.968;0.786;0.997	P;P;D	0.71656	0.8;0.771;0.974	T	0.03493	-1.1031	10	0.15066	T	0.55	.	15.6241	0.76840	1.0:0.0:0.0:0.0	.	561;562;562	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	562;562;562;343;234;234	ENSP00000396010:M562V;ENSP00000380602:M562V;ENSP00000413642:M562V;ENSP00000351267:M343V;ENSP00000380600:M234V;ENSP00000392077:M234V	ENSP00000351267:M343V	M	+	1	0	CNTN4	3047560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.694000	0.91293	2.145000	0.66743	0.533000	0.62120	ATG	.		0.438	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			G	3072560	A	G	3072560	3	3	18	1	0	0	0	0	1	0	0	0	3650	333	12	4	1734	4	CNTN4	3	3072560	Missense_Mutation	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09		3072560	194949870	19	2433											
SMARCC1	6599	hgsc.bcm.edu	37	3	47716999	47716999	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:47716999C>T	ENST00000254480.5	-	18	1924	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	602					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.R602H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AATGTCAGTACGGAGACCAAA	0.363																																					p.R602H		.											SMARCC1,NS,carcinoma,0,1	SMARCC1	0	1	Substitution - Missense(1)	endometrium(1)	c.G1805A						.						151	143	146					3																	47716999		2203	4300	6503	SO:0001583	missense	6599	exon18			TCAGTACGGAGAC	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1805G>A	3.37:g.47716999C>T	ENSP00000254480:p.Arg602His	52	0		55	3	NM_003074	Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710557	0.89112	.	.	ENSG00000173473	ENST00000254480	T	0.51071	0.72	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66748	-0.5845	10	0.59425	D	0.04	-16.3291	19.1586	0.93522	0.0:1.0:0.0:0.0	.	602	Q92922	SMRC1_HUMAN	H	602	ENSP00000254480:R602H	ENSP00000254480:R602H	R	-	2	0	SMARCC1	47692003	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	7.614000	0.82996	2.873000	0.98535	0.563000	0.77884	CGT	.		0.363	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			T	47716999	C	T	47716999	3	4	18	1	0	0	0	0	1	0	0	0	14820	536	19	1	1556	1	SMARCC1	3	47716999	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	44644439	47716999	150305431	20	2434											
MST1	63891	ucsc.edu	37	3	49725034	49725034	+	5'Flank	SNP	T	T	A	rs142964215		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:49725034T>A	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.T29S|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.T104S|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_Missense_Mutation_p.T90S	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)		CGCAGCCTCGTGTGGGGCGAG	0.617																																					p.T104S													.	MST1	84	0			c.A310T						.						64	56	59					3																	49725034		2203	4300	6503	SO:0001631	upstream_gene_variant	4485	exon3			GCCTCGTGTGGGG	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.49725034T>A	Exception_encountered	65	5		56	12	NM_020998	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	T	8.993	0.978116	0.18812	.	.	ENSG00000173531	ENST00000449682;ENST00000383728;ENST00000545762	D;D;D	0.88664	-2.41;-2.41;-2.41	5.13	3.94	0.45596	.	0.366754	0.19842	N	0.104821	T	0.81389	0.4812	L	0.51422	1.61	0.09310	N	1	P;B	0.35192	0.489;0.019	B;B	0.30179	0.112;0.023	T	0.66284	-0.5962	10	0.12766	T	0.61	.	7.7821	0.29070	0.0:0.2455:0.0:0.7545	.	90;104	B7Z538;G3XAK1	.;.	S	104;29;90	ENSP00000414287:T104S;ENSP00000373234:T29S;ENSP00000437535:T90S	ENSP00000373234:T29S	T	-	1	0	MST1	49700038	0.183000	0.23186	0.007000	0.13788	0.244000	0.25665	0.974000	0.29436	0.858000	0.35431	0.482000	0.46254	ACG	.		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49725034	T	A	49725034	1	1	18	0	1	0	0	0	0	0	0	0	9928	1696	59	5		5	MST1	3	49725034	5'Flank	SNP	T	TCGA-W5-AA2Z-01A-11D-A417-09	2008035	49725034	148297396	21	2435											
RBM5	10181	bcgsc.ca	37	3	50143035	50143035	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:50143035G>T	ENST00000347869.3	+	10	923	c.748G>T	c.(748-750)Gca>Tca	p.A250S		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	250	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		CATCATGACAGCACTGTCTCC	0.483																																					p.A250S													.	RBM5	76	0			c.G748T						.						207	165	179					3																	50143035		2203	4300	6503	SO:0001583	missense	10181	exon10			ATGACAGCACTGT	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.748G>T	3.37:g.50143035G>T	ENSP00000343054:p.Ala250Ser	58	1		43	4	NM_005778	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359210	0.95854	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	T	0.08282	3.11	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.152117	0.56097	D	0.000038	T	0.27866	0.0686	M	0.73598	2.24	0.80722	D	1	D	0.62365	0.991	P	0.60173	0.87	T	0.00147	-1.1990	10	0.25751	T	0.34	-12.1026	20.8598	0.99761	0.0:0.0:1.0:0.0	.	250	P52756	RBM5_HUMAN	S	250;249	ENSP00000343054:A250S	ENSP00000343054:A250S	A	+	1	0	RBM5	50118039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.517000	0.67061	2.937000	0.99478	0.650000	0.86243	GCA	.		0.483	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		T	50143035	G	T	50143035	3	4	18	1	0	0	0	0	1	0	0	0	13188	971	34	3	782	3	RBM5	3	50143035	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	418001	50143035	147879395	22	2436											
SLC9A10	285335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	111958835	111958835	+	Nonsense_Mutation	SNP	G	G	C			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:111958835G>C	ENST00000305815.5	-	12	1550	c.1298C>G	c.(1297-1299)tCa>tGa	p.S433*	SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.S385*	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	433					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)										ATATTTTGTTGATGTGGCATC	0.348																																					p.S433X		.											.	.	.	0			c.C1298G						.						110	98	102					3																	111958835		2203	4300	6503	SO:0001587	stop_gained	285335	exon12			TTTGTTGATGTGG	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.1298C>G	3.37:g.111958835G>C	ENSP00000306627:p.Ser433*	36	0		39	10	NM_183061	Q6ZRP4|Q7RTP2	Nonsense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	37	6.242547	0.97408	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	.	.	.	5.48	4.5	0.54988	.	0.151221	0.31589	N	0.007388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-16.3678	6.2206	0.20679	0.1568:0.0:0.8432:0.0	.	.	.	.	X	433;385	.	ENSP00000306627:S433X	S	-	2	0	SLC9A10	113441525	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	3.299000	0.51826	2.565000	0.86533	0.511000	0.50034	TCA	.		0.348	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		C	111958835	G	C	111958835	4	2	18	1	0	0	0	0	0	1	0	0	14755	1294	45	5	2307	5	SLC9A10	3	111958835	Nonsense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	61815800	111958835	86063595	23	2437											
CCDC37	348807	hgsc.bcm.edu	37	3	126142435	126142435	+	Missense_Mutation	SNP	G	G	A	rs140223152|rs398102320|rs35657615|rs200815085	byFrequency	TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:126142435G>A	ENST00000352312.1	+	13	1333	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CCDC37_ENST00000393425.1_Missense_Mutation_p.E413K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E413K	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	412				Missing (in Ref. 3; AAI01370/AAI01368). {ECO:0000305}.						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)		CCAGGAGACGGAGAAGACCCT	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		17029	0		0	False		,,,				2504	0				p.E412K		.											CCDC37,rectum,carcinoma,0,1	CCDC37	0	0			c.G1234A						.						109	83	92					3																	126142435		2200	4257	6457	SO:0001583	missense	348807	exon13			GAGACGGAGAAGA	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.1234G>A	3.37:g.126142435G>A	ENSP00000344749:p.Glu412Lys	41	0		43	2	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295376	0.81025	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.41400	1.0;1.0;1.0	4.93	4.93	0.64822	.	0.159668	0.53938	D	0.000054	T	0.66015	0.2747	M	0.83384	2.64	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	D;P	0.66716	0.946;0.884	T	0.71137	-0.4680	10	0.56958	D	0.05	-35.5644	15.657	0.77144	0.0:0.0:1.0:0.0	.	413;412	Q494V2-2;Q494V2	.;CCD37_HUMAN	K	412;413;413	ENSP00000344749:E412K;ENSP00000377076:E413K;ENSP00000423046:E413K	ENSP00000344749:E412K	E	+	1	0	CCDC37	127625125	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	6.860000	0.75473	2.284000	0.76573	0.491000	0.48974	GAG	.		0.612	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		A	126142435	G	A	126142435	3	1	18	1	0	0	0	0	1	0	0	0	2816	1175	41	3	1280	3	CCDC37	3	126142435	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	14183600	126142435	71879995	24	2438											
CHST2	9435	hgsc.bcm.edu	37	3	142840192	142840192	+	Silent	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:142840192G>A	ENST00000309575.3	+	2	1918	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	178					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						CTGGCTCGTCGTTCTTCGGCG	0.622																																					p.S178S		.											CHST2,colon,adenoma,0,1	CHST2	0	0			c.G534A						.						36	44	41					3																	142840192		2203	4300	6503	SO:0001819	synonymous_variant	9435	exon2			CTCGTCGTTCTTC	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.534G>A	3.37:g.142840192G>A		47	0		37	3	NM_004267	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	CCDS3129.1																																																																																			.		0.622	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		A	142840192	G	A	142840192	2	1	18	1	0	0	0	0	0	0	0	1	3411	1132	40	1		1	CHST2	3	142840192	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	16697757	142840192	55182238	25	2439											
USP13	8975	hgsc.bcm.edu	37	3	179458119	179458119	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr3:179458119G>T	ENST00000263966.3	+	11	1810	c.1339G>T	c.(1339-1341)Gat>Tat	p.D447Y	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.D382Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	447	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)			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)			CAGGCAGCAAGATGCCCAGGA	0.507																																					p.D447Y		.											USP13,bladder,carcinoma,0,1	USP13	0	0			c.G1339T						.						90	84	86					3																	179458119		2203	4300	6503	SO:0001583	missense	8975	exon11			CAGCAAGATGCCC	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.1339G>T	3.37:g.179458119G>T	ENSP00000263966:p.Asp447Tyr	29	0		30	2	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038888	0.75617	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	D;D;D	0.95069	-3.6;-3.6;-3.6	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	-22.5714	19.7156	0.96119	0.0:0.0:1.0:0.0	.	447;447	Q92995;A8K2S3	UBP13_HUMAN;.	Y	447;382;93	ENSP00000263966:D447Y;ENSP00000417146:D382Y;ENSP00000420057:D93Y	ENSP00000263966:D447Y	D	+	1	0	USP13	180940813	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	9.776000	0.99001	2.667000	0.90743	0.655000	0.94253	GAT	.		0.507	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			T	179458119	G	T	179458119	3	4	18	1	0	0	0	0	1	0	0	0	17093	942	33	3	1381	3	USP13	3	179458119	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	36617927	179458119	18564311	26	2440											
N4BP2	55728	hgsc.bcm.edu;bcgsc.ca	37	4	40133497	40133497	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr4:40133497C>T	ENST00000261435.6	+	13	5020	c.4604C>T	c.(4603-4605)gCc>gTc	p.A1535V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1535					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						ATATTTCCAGCCATTAACCAA	0.363																																					p.A1535V		.											.	.	.	0			c.C4604T						.						97	96	97					4																	40133497		2203	4300	6503	SO:0001583	missense	55728	exon13			TTCCAGCCATTAA	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.4604C>T	4.37:g.40133497C>T	ENSP00000261435:p.Ala1535Val	56	0		65	4	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786900	0.49997	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.18810	2.19	5.23	4.39	0.52855	.	0.359574	0.28214	N	0.016173	T	0.15609	0.0376	N	0.22421	0.69	0.28984	N	0.88845	B;B	0.30686	0.29;0.191	B;B	0.32864	0.154;0.073	T	0.10660	-1.0620	10	0.56958	D	0.05	-0.9019	10.9521	0.47336	0.1462:0.7132:0.1407:0.0	.	1535;1535	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	V	1535;1455	ENSP00000261435:A1535V	ENSP00000261435:A1535V	A	+	2	0	N4BP2	39809892	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.696000	0.54757	1.202000	0.43218	-0.440000	0.05779	GCC	.		0.363	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		T	40133497	C	T	40133497	3	4	18	1	0	0	0	0	1	0	0	0	10148	739	26	3	4646	3	N4BP2	4	40133497	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09		40133497	151020779	27	2441											
FAM190A	401145	hgsc.bcm.edu;bcgsc.ca	37	4	91234071	91234071	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr4:91234071G>T	ENST00000509176.1	+	3	1670	c.1382G>T	c.(1381-1383)cGa>cTa	p.R461L	CCSER1_ENST00000432775.2_Missense_Mutation_p.R461L|CCSER1_ENST00000333691.8_Missense_Mutation_p.R461L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	461																	AGGAGACTGCGATCCTCGTCA	0.363																																					p.R461L		.											.	.	.	0			c.G1382T						.						39	37	38					4																	91234071		1847	4102	5949	SO:0001583	missense	401145	exon3			GACTGCGATCCTC		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.1382G>T	4.37:g.91234071G>T	ENSP00000425040:p.Arg461Leu	87	0		85	4	NM_001145065	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834723	0.91036	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.65178	0.29;-0.14;0.29	4.67	4.67	0.58626	.	0.067953	0.56097	D	0.000037	T	0.74809	0.3765	L	0.48642	1.525	0.41763	D	0.989726	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.77800	-0.2452	10	0.72032	D	0.01	-4.2679	18.457	0.90724	0.0:0.0:1.0:0.0	.	461;461;461	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	461	ENSP00000425040:R461L;ENSP00000389283:R461L;ENSP00000329482:R461L	ENSP00000329482:R461L	R	+	2	0	FAM190A	91453094	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	8.286000	0.89916	2.517000	0.84864	0.591000	0.81541	CGA	.		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		T	91234071	G	T	91234071	3	4	18	1	0	0	0	0	1	0	0	0	5540	1058	37	2	1388	2	FAM190A	4	91234071	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	51100574	91234071	99920205	28	2442											
C4orf49	84709	hgsc.bcm.edu	37	4	140196546	140196546	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr4:140196546G>T	ENST00000398955.1	-	2	262	c.83C>A	c.(82-84)gCa>gAa	p.A28E		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	28					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)											GCGCAGAGATGCTAGGAAAAA	0.358																																					p.A28E		.											C4orf49,NS,chondrosarcoma,0,1	C4orf49	0	0			c.C83A						.						84	75	78					4																	140196546		1875	4109	5984	SO:0001630	splice_region_variant	84709	exon2			AGAGATGCTAGGA	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.83-1C>A	4.37:g.140196546G>T		30	0		37	2	NM_032623	Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827214	0.71143	.	.	ENSG00000137463	ENST00000398955	T	0.54866	0.55	5.73	3.96	0.45880	.	0.138338	0.47852	D	0.000213	T	0.66489	0.2794	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.52906	T	0.07	.	8.3003	0.32010	0.1884:0.0:0.8116:0.0	.	28	Q8TDB4	CD049_HUMAN	E	28	ENSP00000381928:A28E	ENSP00000381928:A28E	A	-	2	0	C4orf49	140415996	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	1.369000	0.34227	0.841000	0.35020	0.555000	0.69702	GCA	.		0.358	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623	Missense_Mutation	T	140196546	G	T	140196546	5	4	18	1	0	0	0	0	0	0	1	0	2282	1333	46	3	651	3	C4orf49	4	140196546	Splice_Site	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	48962475	140196546	50957730	29	2443											
MARCH1	55016	hgsc.bcm.edu	37	4	164449941	164449941	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr4:164449941G>T	ENST00000503008.1	-	8	1805	c.829C>A	c.(829-831)Cca>Aca	p.P277T	RP11-218F10.3_ENST00000609356.1_lincRNA|MARCH1_ENST00000514618.1_Missense_Mutation_p.P533T|MARCH1_ENST00000274056.7_Missense_Mutation_p.P277T|MARCH1_ENST00000339875.5_Missense_Mutation_p.P260T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	277	Responsible for down-regulation of CD86 and MHC class II cell surface expression. {ECO:0000250}.				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.P277S(1)|p.P260S(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)				TCTGCAGATGGCAGTGAATTT	0.463																																					p.P277T		.											MARCH1_ENST00000503008,NS,carcinoma,0,2	MARCH1_ENST00000503008	0	2	Substitution - Missense(2)	endometrium(2)	c.C829A						.						106	93	98					4																	164449941		2203	4300	6503	SO:0001583	missense	55016	exon8			CAGATGGCAGTGA	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.829C>A	4.37:g.164449941G>T	ENSP00000427223:p.Pro277Thr	48	0		65	3	NM_001166373	D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	6.272	0.418244	0.11870	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.32023	1.89;1.89;1.47;1.5	5.34	4.5	0.54988	.	0.179533	0.38778	N	0.001565	T	0.13157	0.0319	N	0.05078	-0.115	0.20975	N	0.999818	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.24621	-1.0155	10	0.07990	T	0.79	-5.2847	10.5147	0.44883	0.1487:0.0:0.8513:0.0	.	277;260	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	T	277;277;533;260	ENSP00000274056:P277T;ENSP00000427223:P277T;ENSP00000421322:P533T;ENSP00000345676:P260T	ENSP00000274056:P277T	P	-	1	0	MARCH1	164669391	1.000000	0.71417	0.284000	0.24805	0.939000	0.58152	4.276000	0.58933	1.399000	0.46721	0.655000	0.94253	CCA	.		0.463	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		T	164449941	G	T	164449941	3	4	18	1	0	0	0	0	1	0	0	0	9336	1203	42	3	44	3	MARCH1	4	164449941	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	24253395	164449941	26704335	30	2444											
CARD6	84674	broad.mit.edu	37	5	40841684	40841684	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr5:40841684A>G	ENST00000254691.5	+	1	399	c.200A>G	c.(199-201)aAg>aGg	p.K67R	CARD6_ENST00000381677.3_Missense_Mutation_p.K67R	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	67	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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						GTACAGAAAAAGGGAGAGGCG	0.423																																					p.K67R													.	CARD6	141	0			c.A200G						.						115	120	119					5																	40841684		2203	4300	6503	SO:0001583	missense	84674	exon1			AGAAAAAGGGAGA	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.200A>G	5.37:g.40841684A>G	ENSP00000254691:p.Lys67Arg	76	1		85	5	NM_032587	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773080	0.69992	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.51071	0.72;0.72	4.88	4.88	0.63580	DEATH-like (2);Caspase Recruitment (3);	0.097855	0.44688	D	0.000422	T	0.64461	0.2600	M	0.68952	2.095	0.28923	N	0.892005	D	0.89917	1.0	D	0.97110	1.0	T	0.62586	-0.6823	10	0.87932	D	0	-15.0983	10.7802	0.46374	1.0:0.0:0.0:0.0	.	67	Q9BX69	CARD6_HUMAN	R	67	ENSP00000254691:K67R;ENSP00000371093:K67R	ENSP00000254691:K67R	K	+	2	0	CARD6	40877441	0.994000	0.37717	0.850000	0.33497	0.604000	0.37047	2.133000	0.42093	2.045000	0.60652	0.460000	0.39030	AAG	.		0.423	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			G	40841684	A	G	40841684	3	3	18	1	0	0	0	0	1	0	0	0	2657	72	3	4	202	4	CARD6	5	40841684	Missense_Mutation	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09		40841684	140073576	31	2445											
TTC37	9652	hgsc.bcm.edu	37	5	94852864	94852864	+	Silent	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr5:94852864G>T	ENST00000358746.2	-	21	2575	c.2277C>A	c.(2275-2277)ctC>ctA	p.L759L	TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	759						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.L759L(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTCCAAGGTGGAGGAGCTCAT	0.358																																					p.L759L		.											TTC37,NS,carcinoma,0,1	TTC37	0	1	Substitution - coding silent(1)	lung(1)	c.C2277A						.						96	86	89					5																	94852864		2203	4299	6502	SO:0001819	synonymous_variant	9652	exon21			AAGGTGGAGGAGC	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2277C>A	5.37:g.94852864G>T		36	0		42	2	NM_014639	O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	CCDS4072.1																																																																																			.		0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		T	94852864	G	T	94852864	2	4	18	1	0	0	0	0	0	0	0	1	16754	1161	41	3		3	TTC37	5	94852864	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	54011180	94852864	86062396	32	2446											
SLCO4C1	353189	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	101582976	101582976	+	Silent	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr5:101582976A>G	ENST00000310954.6	-	10	2077	c.1791T>C	c.(1789-1791)ccT>ccC	p.P597P		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACACAGTTATAGGAGTACCGG	0.383																																					p.P597P		.											.	.	.	0			c.T1791C						.						75	80	78					5																	101582976		2203	4300	6503	SO:0001819	synonymous_variant	353189	exon10			AGTTATAGGAGTA	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1791T>C	5.37:g.101582976A>G		52	0		94	7	NM_180991		Silent	SNP	ENST00000310954.6	37	CCDS34205.1																																																																																			.		0.383	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		G	101582976	A	G	101582976	2	3	18	1	0	0	0	0	0	0	0	1	14775	407	15	4		4	SLCO4C1	5	101582976	Silent	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09	6730112	101582976	79332284	33	2447											
C5orf30	90355	hgsc.bcm.edu	37	5	102611819	102611819	+	Missense_Mutation	SNP	G	G	T	rs377580691		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr5:102611819G>T	ENST00000319933.2	+	3	507	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C	C5orf30_ENST00000510890.1_Missense_Mutation_p.G67C|C5orf30_ENST00000515669.1_Missense_Mutation_p.G67C	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	67					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)		CTTCACGACTGGCGAGGAACT	0.557																																					p.G67C		.											C5orf30,NS,carcinoma,0,1	C5orf30	0	0			c.G199T						.						79	64	69					5																	102611819		2203	4300	6503	SO:0001583	missense	90355	exon3			ACGACTGGCGAGG		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.199G>T	5.37:g.102611819G>T	ENSP00000326110:p.Gly67Cys	37	0		47	2	NM_033211		Missense_Mutation	SNP	ENST00000319933.2	37	CCDS4095.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026369	0.75390	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.73585	-0.3936	9	0.87932	D	0	-13.3142	20.6208	0.99490	0.0:0.0:1.0:0.0	.	67	Q96GV9	CE030_HUMAN	C	67	.	ENSP00000326110:G67C	G	+	1	0	C5orf30	102639718	1.000000	0.71417	0.349000	0.25694	0.430000	0.31655	8.938000	0.92943	2.882000	0.98803	0.655000	0.94253	GGC	.		0.557	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211		T	102611819	G	T	102611819	3	4	18	1	0	0	0	0	1	0	0	0	2297	1348	47	3	201	3	C5orf30	5	102611819	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	1028843	102611819	78303441	34	2448											
AFF4	27125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	132232701	132232701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr5:132232701C>A	ENST00000265343.5	-	11	2000	c.1621G>T	c.(1621-1623)Gaa>Taa	p.E541*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.E541*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	541					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)			CGCCCACTTTCTGATCCCTTT	0.502																																					p.E541X	Ovarian(126;889 1733 2942 10745 11605)	.											.	.	.	0			c.G1621T						.						138	129	132					5																	132232701		2203	4300	6503	SO:0001587	stop_gained	27125	exon11			CACTTTCTGATCC	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.1621G>T	5.37:g.132232701C>A	ENSP00000265343:p.Glu541*	28	0		31	4	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Nonsense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	40	8.137029	0.98672	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-18.2768	19.4427	0.94827	0.0:1.0:0.0:0.0	.	.	.	.	X	541	.	ENSP00000265343:E541X	E	-	1	0	AFF4	132260600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.221000	0.78016	2.649000	0.89929	0.563000	0.77884	GAA	.		0.502	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		A	132232701	C	A	132232701	4	1	18	1	0	0	0	0	0	1	0	0	359	922	32	3	1914	3	AFF4	5	132232701	Nonsense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	29620882	132232701	48682559	35	2449											
BTN3A1	11119	broad.mit.edu	37	6	26408115	26408115	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr6:26408115G>A	ENST00000289361.6	+	4	1018	c.650G>A	c.(649-651)gGt>gAt	p.G217D	BTN3A1_ENST00000425234.2_Missense_Mutation_p.G217D|BTN3A1_ENST00000414912.2_Missense_Mutation_p.G165D|BTN3A1_ENST00000476549.2_Missense_Mutation_p.G217D	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	217	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTGGGGAGGGTGTATCCTGT	0.557																																					p.G217D													.	BTN3A1	80	0			c.G650A						.						178	165	169					6																	26408115		2203	4300	6503	SO:0001583	missense	0	exon4			GGGAGGGTGTATC	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.650G>A	6.37:g.26408115G>A	ENSP00000289361:p.Gly217Asp	50	0		44	3	NM_007048	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	6.678	0.493676	0.12702	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.75260	-0.92;-0.92;-0.92;0.85	2.0	-3.99	0.04069	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46521	0.1397	L	0.41573	1.285	0.09310	N	1	P;P;P;P	0.47545	0.682;0.897;0.897;0.822	B;B;P;B	0.44696	0.141;0.435;0.458;0.393	T	0.50101	-0.8867	9	0.62326	D	0.03	.	7.3574	0.26727	0.7047:0.0:0.2952:0.0	.	165;217;217;217	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	D	217;217;217;165	ENSP00000420010:G217D;ENSP00000289361:G217D;ENSP00000396684:G217D;ENSP00000406667:G165D	ENSP00000289361:G217D	G	+	2	0	BTN3A1	26516094	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.976000	0.01497	-1.254000	0.02485	-0.350000	0.07774	GGT	.		0.557	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			A	26408115	G	A	26408115	3	1	18	1	0	0	0	0	1	0	0	0	1566	1261	44	3	660	3	BTN3A1	6	26408115	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		26408115	144706952	36	2450											
ZNF391	346157	hgsc.bcm.edu	37	6	27368676	27368676	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr6:27368676G>T	ENST00000244576.4	+	3	1072	c.527G>T	c.(526-528)cGg>cTg	p.R176L		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	176					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)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCTTTTAGCCGGAGCACACAT	0.403																																					p.R176L		.											ZNF391_ENST00000244576,colon,carcinoma,0,2	ZNF391_ENST00000244576	0	0			c.G527T						.						72	79	77					6																	27368676		2199	4298	6497	SO:0001583	missense	346157	exon3			TTAGCCGGAGCAC	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.527G>T	6.37:g.27368676G>T	ENSP00000244576:p.Arg176Leu	43	0		31	3	NM_001076781	B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646847	0.29246	.	.	ENSG00000124613	ENST00000244576	T	0.19669	2.13	4.01	-0.954	0.10359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.16567	0.415	0.09310	N	1	P	0.35612	0.512	B	0.32864	0.154	T	0.36335	-0.9752	9	0.56958	D	0.05	.	3.2057	0.06665	0.5304:0.0:0.2656:0.204	.	176	Q9UJN7	ZN391_HUMAN	L	176	ENSP00000244576:R176L	ENSP00000244576:R176L	R	+	2	0	ZNF391	27476655	0.000000	0.05858	0.008000	0.14137	0.798000	0.45092	-0.677000	0.05215	0.186000	0.20125	0.563000	0.77884	CGG	.		0.403	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		T	27368676	G	T	27368676	3	4	18	1	0	0	0	0	1	0	0	0	17927	1116	39	2	529	2	ZNF391	6	27368676	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	960561	27368676	143746391	37	2451											
FNDC1	84624	bcgsc.ca	37	6	159646709	159646709	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr6:159646709G>T	ENST00000297267.9	+	8	1227	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.D343Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	343	Fibronectin type-III 3. {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)		GGGTGAAAGAGATGGCAAATG	0.413																																					p.D343Y													.	FNDC1	250	0			c.G1027T						.						139	143	142					6																	159646709		1918	4113	6031	SO:0001583	missense	84624	exon8			GAAAGAGATGGCA	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.1027G>T	6.37:g.159646709G>T	ENSP00000297267:p.Asp343Tyr	29	0		19	3	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.942165|2.942165	0.53079|0.53079	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|T	0.57107|0.57107	0.42;0.42|0.42	5.84|5.84	5.84|5.84	0.93424|0.93424	Fibronectin, type III (5);Immunoglobulin-like fold (1);|.	0.231445|.	0.42053|.	D|.	0.000780|.	T|T	0.63082|0.63082	0.2481|0.2481	M|M	0.61703|0.61703	1.905|1.905	0.41351|0.41351	D|D	0.987361|0.987361	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.985|.	T|T	0.63769|0.63769	-0.6562|-0.6562	10|7	0.62326|0.66056	D|D	0.03|0.02	-27.865|-27.865	20.1346|20.1346	0.98019|0.98019	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	343;343|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	Y|I	343|301	ENSP00000297267:D343Y;ENSP00000342460:D343Y|ENSP00000333297:R301I	ENSP00000297267:D343Y|ENSP00000333297:R301I	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159566697|159566697	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.991000|0.991000	0.79684|0.79684	3.360000|3.360000	0.52299|0.52299	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GAT|AGA	.		0.413	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		T	159646709	G	T	159646709	3	4	18	1	0	0	0	0	1	0	0	0	5990	942	33	3	1057	3	FNDC1	6	159646709	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	132278033	159646709	11468358	38	2452											
SDK1	221935	hgsc.bcm.edu	37	7	4218209	4218209	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:4218209G>T	ENST00000404826.2	+	35	5228	c.5089G>T	c.(5089-5091)Ggc>Tgc	p.G1697C	SDK1_ENST00000389531.3_Missense_Mutation_p.G1677C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1697	Fibronectin type-III 10. {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)		GGTCTTTGTCGGCGAGGCTGG	0.622																																					p.G1697C		.											SDK1,spleen,lymphoid_neoplasm,0,1	SDK1	0	0			c.G5089T						.						62	69	67					7																	4218209		2203	4300	6503	SO:0001583	missense	221935	exon35			TTTGTCGGCGAGG	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.5089G>T	7.37:g.4218209G>T	ENSP00000385899:p.Gly1697Cys	32	0		45	2	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469413	0.63625	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.54279	0.58;0.6	5.09	5.09	0.68999	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.074731	0.52532	D	0.000067	T	0.76695	0.4023	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.983	T	0.81351	-0.0972	10	0.87932	D	0	.	17.0409	0.86489	0.0:0.0:1.0:0.0	.	1677;184;1697	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	C	1697;1677	ENSP00000385899:G1697C;ENSP00000374182:G1677C	ENSP00000374182:G1677C	G	+	1	0	SDK1	4184735	1.000000	0.71417	0.979000	0.43373	0.234000	0.25298	7.536000	0.82023	2.525000	0.85131	0.655000	0.94253	GGC	.		0.622	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4218209	G	T	4218209	3	4	18	1	0	0	0	0	1	0	0	0	14013	1116	39	2	5227	2	SDK1	7	4218209	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		4218209	154920454	39	2453											
FOXK1	221937	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	4722453	4722453	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:4722453G>T	ENST00000328914.4	+	1	514	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	FOXK1_ENST00000446823.1_Intron	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)		CTTCGTGGACGGGGCCTTCCA	0.731																																					p.G172W		.											.	.	.	0			c.G514T						.						10	10	10					7																	4722453		2194	4293	6487	SO:0001583	missense	221937	exon1			GTGGACGGGGCCT	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.514G>T	7.37:g.4722453G>T	ENSP00000328720:p.Gly172Trp	25	0		23	11	NM_001037165		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.320143	0.81469	.	.	ENSG00000164916	ENST00000328914;ENST00000545598	T	0.35236	1.32	3.3	3.3	0.37823	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.64402	U	0.000001	T	0.66327	0.2778	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75563	-0.3274	10	0.87932	D	0	.	12.4439	0.55639	0.0:0.0:1.0:0.0	.	172;55	P85037;F5H8G8	FOXK1_HUMAN;.	W	172;55	ENSP00000328720:G172W	ENSP00000328720:G172W	G	+	1	0	FOXK1	4688979	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	6.616000	0.74205	1.565000	0.49641	0.282000	0.19409	GGG	.		0.731	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			T	4722453	G	T	4722453	3	4	18	1	0	0	0	0	1	0	0	0	6038	1116	39	2	516	2	FOXK1	7	4722453	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	504244	4722453	154416210	40	2454											
CALCR	799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	93055882	93055882	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:93055882C>T	ENST00000394441.1	-	13	1526	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	CALCR_ENST00000359558.2_Missense_Mutation_p.R438H|CALCR_ENST00000426151.1_Missense_Mutation_p.R404H|CALCR_ENST00000360249.4_Missense_Mutation_p.R420H|CALCR_ENST00000421592.1_Missense_Mutation_p.R420H	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	438					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)	GGCCCATTGGCGCTTCACGGT	0.542																																					p.R438H		.											CALCR_ENST00000359558,NS,carcinoma,-1,2	CALCR_ENST00000359558	-1	0			c.G1313A						.						34	38	37					7																	93055882		2203	4300	6503	SO:0001583	missense	799	exon16			CATTGGCGCTTCA	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.1211G>A	7.37:g.93055882C>T	ENSP00000377959:p.Arg404His	23	0		21	8	NM_001164737	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860068	0.71834	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	4.92	4.92	0.64577	.	.	.	.	.	T	0.80385	0.4613	M	0.85542	2.76	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.83058	-0.0149	9	0.87932	D	0	.	13.8286	0.63366	0.0:1.0:0.0:0.0	.	438;404	F5H605;A4D1G6	.;.	H	438;420;420;404;404	ENSP00000352561:R438H;ENSP00000353385:R420H;ENSP00000399552:R420H;ENSP00000377959:R404H;ENSP00000389295:R404H	ENSP00000352561:R438H	R	-	2	0	CALCR	92893818	1.000000	0.71417	0.999000	0.59377	0.322000	0.28314	5.785000	0.68998	2.728000	0.93425	0.585000	0.79938	CGC	.		0.542	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		T	93055882	C	T	93055882	3	4	18	1	0	0	0	0	1	0	0	0	2586	768	27	1	217	1	CALCR	7	93055882	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	88333429	93055882	66082781	41	2455											
MUC17	140453	ucsc.edu	37	7	100681474	100681474	+	Silent	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:100681474A>G	ENST00000306151.4	+	3	6841	c.6777A>G	c.(6775-6777)tcA>tcG	p.S2259S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2259	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	0.502																																					p.S2259S													.	MUC17	804	0			c.A6777G						.						283	287	285					7																	100681474		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.6777A>G	7.37:g.100681474A>G		58	1		72	14	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			.		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100681474	A	G	100681474	2	3	18	1	0	0	0	0	0	0	0	1	10012	204	8	4		4	MUC17	7	100681474	Silent	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09	7625592	100681474	58457189	42	2456											
MUC17	140453	ucsc.edu	37	7	100681510	100681510	+	Silent	SNP	T	T	C	rs116767656		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:100681510T>C	ENST00000306151.4	+	3	6877	c.6813T>C	c.(6811-6813)acT>acC	p.T2271T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2271	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)					GCATACCAACTTCAACTCTTA	0.488																																					p.T2271T													.	MUC17	804	0			c.T6813C						.						262	265	264					7																	100681510		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			ACCAACTTCAACT	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.6813T>C	7.37:g.100681510T>C		56	2		72	19	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			.		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681510	T	C	100681510	2	2	18	1	0	0	0	0	0	0	0	1	10012	1596	56	4		4	MUC17	7	100681510	Silent	SNP	T	TCGA-W5-AA2Z-01A-11D-A417-09	36	100681510	58457153	43	2457											
AASS	10157	hgsc.bcm.edu	37	7	121755176	121755176	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:121755176C>T	ENST00000393376.1	-	8	1090	c.995G>A	c.(994-996)gGc>gAc	p.G332D	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.G332D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	332	Lysine-ketoglutarate reductase.				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						TGAGAACTTGCCCGGAGCCAG	0.488																																					p.G332D		.											AASS,NS,adenocarcinoma,0,1	AASS	0	0			c.G995A						.						124	115	118					7																	121755176		2203	4300	6503	SO:0001583	missense	10157	exon9			AACTTGCCCGGAG	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.995G>A	7.37:g.121755176C>T	ENSP00000377040:p.Gly332Asp	89	0		65	3	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	4.267	0.048563	0.08243	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.68	-0.506	0.11989	Alanine dehydrogenase/PNT, C-terminal (1);	0.615801	0.17256	N	0.180955	T	0.19525	0.0469	N	0.21373	0.66	0.09310	N	1	B	0.28470	0.213	B	0.33339	0.162	T	0.31223	-0.9951	9	0.10902	T	0.67	-0.5644	6.5835	0.22609	0.6959:0.1491:0.0749:0.0801	.	332	Q9UDR5	AASS_HUMAN	D	332	.	ENSP00000351834:G332D	G	-	2	0	AASS	121542412	0.003000	0.15002	0.952000	0.39060	0.416000	0.31233	0.318000	0.19504	-0.025000	0.13918	-0.181000	0.13052	GGC	.		0.488	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		T	121755176	C	T	121755176	3	4	18	1	0	0	0	0	1	0	0	0	24	739	26	3	1849	3	AASS	7	121755176	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	21073666	121755176	37383487	44	2458											
FLNC	2318	hgsc.bcm.edu;bcgsc.ca	37	7	128496613	128496613	+	Silent	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:128496613G>T	ENST00000325888.8	+	44	7554	c.7293G>T	c.(7291-7293)gtG>gtT	p.V2431V	FLNC_ENST00000346177.6_Silent_p.V2398V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2431	Interaction with INPPL1.				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						CCTTTGCCGTGCAGCTGAACG	0.652																																					p.V2431V		.											.	.	.	0			c.G7293T						.						62	74	70					7																	128496613		2115	4208	6323	SO:0001819	synonymous_variant	2318	exon44			TGCCGTGCAGCTG	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.7293G>T	7.37:g.128496613G>T		57	0		80	4	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																			.		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128496613	G	T	128496613	2	4	18	1	0	0	0	0	0	0	0	1	5957	1306	46	3		3	FLNC	7	128496613	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	6741437	128496613	30642050	45	2459											
SLC37A3	84255	hgsc.bcm.edu	37	7	140043303	140043303	+	Missense_Mutation	SNP	C	C	T	rs557916487		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:140043303C>T	ENST00000326232.9	-	13	1438	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SLC37A3_ENST00000447932.2_Missense_Mutation_p.R396H|SLC37A3_ENST00000340308.3_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	412					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.R412H(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GAGCTCCTGGCGACCCAAGTC	0.458													C|||	1	0.000199681	0	0.0014	5008	,	,		17859	0		0	False		,,,				2504	0				p.R412H	Esophageal Squamous(133;211 1716 4665 11387 37873)	.											SLC37A3,rectum,carcinoma,0,1	SLC37A3	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1235A						.						102	89	94					7																	140043303		2203	4300	6503	SO:0001583	missense	84255	exon13			TCCTGGCGACCCA	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.1235G>A	7.37:g.140043303C>T	ENSP00000321498:p.Arg412His	40	0		53	3	NM_207113	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267583|3.267583	0.59540|0.59540	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000485538;ENST00000477006|ENST00000447932;ENST00000326232;ENST00000498469	.|T;T;T	.|0.46819	.|2.52;2.5;0.86	5.51|5.51	3.38|3.38	0.38709|0.38709	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.098119	.|0.64402	.|N	.|0.000002	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.39566|0.39566	1.225|1.225	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.30824	.|0.122;0.296;0.131	.|B;B;B	.|0.33960	.|0.049;0.173;0.023	T|T	0.38845|0.38845	-0.9642|-0.9642	5|10	.|0.45353	.|T	.|0.12	-36.7665|-36.7665	13.2165|13.2165	0.59863|0.59863	0.0:0.8489:0.0:0.1511|0.0:0.8489:0.0:0.1511	.|.	.|396;412;24	.|Q8NCC5-2;Q8NCC5;B3KX37	.|.;SPX3_HUMAN;.	T|H	10;50|396;412;51	.|ENSP00000397481:R396H;ENSP00000321498:R412H;ENSP00000418158:R51H	.|ENSP00000321498:R412H	A|R	-|-	1|2	0|0	SLC37A3|SLC37A3	139689772|139689772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.878000|4.878000	0.63093|0.63093	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GCC|CGC	.		0.458	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		T	140043303	C	T	140043303	3	4	18	1	0	0	0	0	1	0	0	0	14644	768	27	1	410	1	SLC37A3	7	140043303	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	11546690	140043303	19095360	46	2460											
PDIA4	9601	hgsc.bcm.edu	37	7	148701059	148701059	+	Missense_Mutation	SNP	C	C	T	rs374110175	byFrequency	TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:148701059C>T	ENST00000286091.4	-	10	1997	c.1765G>A	c.(1765-1767)Gac>Aac	p.D589N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	589	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)			CTGGGGACGTCGTTGGCAGTG	0.582													C|||	3	0.000599042	0.0015	0	5008	,	,		17037	0		0	False		,,,				2504	0.001				p.D589N		.											PDIA4,NS,carcinoma,0,1	PDIA4	0	0			c.G1765A						.	C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	104	104	104		1765	5.8	0.9	7		104	0,8600		0,0,4300	no	missense	PDIA4	NM_004911.4	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	589/646	148701059	2,13004	2203	4300	6503	SO:0001583	missense	9601	exon10			GGACGTCGTTGGC	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.1765G>A	7.37:g.148701059C>T	ENSP00000286091:p.Asp589Asn	42	0		36	2	NM_004911	A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.121003	0.77436	4.54E-4	0.0	ENSG00000155660	ENST00000286091	T	0.22539	1.95	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.043926	0.85682	D	0.000000	T	0.50667	0.1629	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.49679	-0.8914	10	0.87932	D	0	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	589	P13667	PDIA4_HUMAN	N	589	ENSP00000286091:D589N	ENSP00000286091:D589N	D	-	1	0	PDIA4	148331992	1.000000	0.71417	0.894000	0.35097	0.010000	0.07245	7.574000	0.82434	2.751000	0.94390	0.555000	0.69702	GAC	.		0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		T	148701059	C	T	148701059	3	4	18	1	0	0	0	0	1	0	0	0	11709	884	31	1	176	1	PDIA4	7	148701059	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	8657756	148701059	10437604	47	2461											
MLL3	58508	broad.mit.edu	37	7	151945305	151945305	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr7:151945305G>C	ENST00000262189.6	-	14	2432	c.2214C>G	c.(2212-2214)gaC>gaG	p.D738E	KMT2C_ENST00000355193.2_Missense_Mutation_p.D738E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	738					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)										TCATTTCAGAGTCCATCAATC	0.358																																					p.D738E													.	MLL3	1564	0			c.C2214G						.						76	74	75					7																	151945305		2203	4300	6503	SO:0001583	missense	58508	exon14			TTCAGAGTCCATC	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.2214C>G	7.37:g.151945305G>C	ENSP00000262189:p.Asp738Glu	62	1		51	6	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585622	0.13749	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.81821	-1.54;-1.53	5.23	2.15	0.27550	.	0.139470	0.32015	N	0.006703	T	0.55577	0.1929	N	0.14661	0.345	0.28186	N	0.927979	B	0.09022	0.002	B	0.08055	0.003	T	0.43343	-0.9397	10	0.02654	T	1	.	4.9692	0.14105	0.1988:0.0:0.3272:0.474	.	738	Q8NEZ4	MLL3_HUMAN	E	738	ENSP00000262189:D738E;ENSP00000347325:D738E	ENSP00000262189:D738E	D	-	3	2	MLL3	151576238	0.972000	0.33761	0.111000	0.21465	0.658000	0.38924	1.307000	0.33516	0.238000	0.21222	0.650000	0.86243	GAC	.		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151945305	G	C	151945305	3	2	18	1	0	0	0	0	1	0	0	0	9660	1020	36	5	12705	5	MLL3	7	151945305	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	3244246	151945305	7193358	48	2462											
PRKDC	5591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	48710796	48710796	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr8:48710796A>G	ENST00000523565.1	-	73	10514		c.e73+1		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAAGACACCAACCTCTTTTGT	0.358								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	.	.	0			c.10457+2T>C						.						92	87	89					8																	48710796		1839	4091	5930	SO:0001630	splice_region_variant	5591	exon74			ACACCAACCTCTT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.2994+1T>C	8.37:g.48710796A>G		65	0		76	9	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37		.	.	.	.	.	.	.	.	.	.	A	19.61	3.859203	0.71834	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4263	0.75055	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48873349	1.000000	0.71417	0.991000	0.47740	0.658000	0.38924	8.500000	0.90498	2.107000	0.64212	0.379000	0.24179	.	.		0.358	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron	G	48710796	A	G	48710796	5	3	18	1	0	0	0	0	0	0	1	0	12563	57	2	4	1982	4	PRKDC	8	48710796	Splice_Site	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09		48710796	97653226	49	2463											
ZNF7	7553	hgsc.bcm.edu;bcgsc.ca	37	8	146067377	146067377	+	Silent	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr8:146067377G>A	ENST00000528372.1	+	5	1125	c.885G>A	c.(883-885)caG>caA	p.Q295Q	ZNF7_ENST00000325241.6_Silent_p.Q295Q|ZNF7_ENST00000446747.2_Silent_p.Q306Q|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.Q199Q			P17097	ZNF7_HUMAN	zinc finger protein 7	295					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)		AACTTATTCAGCATCAAAGAA	0.478																																					p.Q295Q		.											.	.	.	0			c.G885A						.						67	73	71					8																	146067377		2203	4300	6503	SO:0001819	synonymous_variant	7553	exon5			TATTCAGCATCAA	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.885G>A	8.37:g.146067377G>A		31	0		44	4	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	37	CCDS6435.1																																																																																			.		0.478	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		A	146067377	G	A	146067377	2	1	18	1	0	0	0	0	0	0	0	1	18150	962	34	3		3	ZNF7	8	146067377	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	97356581	146067377	296645	50	2464											
PTGS1	5742	hgsc.bcm.edu	37	9	125133501	125133501	+	Missense_Mutation	SNP	T	T	C	rs200490358		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr9:125133501T>C	ENST00000362012.2	+	2	49	c.44T>C	c.(43-45)cTg>cCg	p.L15P	PTGS1_ENST00000540753.1_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.L15P|RP11-498E2.9_ENST00000602325.1_RNA	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)	15					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)			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)	TTCCTGCTCCTGCTCCCGCCG	0.667																																					p.L15P		.											.,1	.	84	0			c.T44C						.						55	58	57					9																	125133501		2203	4300	6503	SO:0001583	missense	5742	exon2			TGCTCCTGCTCCC	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.44T>C	9.37:g.125133501T>C	ENSP00000354612:p.Leu15Pro	20	2		26	5	NM_001271164	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	t	7.738	0.700635	0.15106	.	.	ENSG00000095303	ENST00000362012;ENST00000223423;ENST00000426608	T;T;T	0.70986	-0.53;-0.53;1.48	3.31	3.31	0.37934	.	0.761229	0.12202	N	0.490211	T	0.73713	0.3622	L	0.29908	0.895	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.78314	0.979;0.991	T	0.72347	-0.4321	10	0.72032	D	0.01	-4.2016	8.4086	0.32629	0.0:0.0:0.0:1.0	.	15;15	P23219;P23219-2	PGH1_HUMAN;.	P	15;15;12	ENSP00000354612:L15P;ENSP00000223423:L15P;ENSP00000411606:L12P	ENSP00000223423:L15P	L	+	2	0	PTGS1	124173322	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	3.017000	0.49615	1.754000	0.51921	0.451000	0.29950	CTG	.		0.667	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			C	125133501	T	C	125133501	3	2	18	1	0	0	0	0	1	0	0	0	12798	1580	55	4	50	4	PTGS1	9	125133501	Missense_Mutation	SNP	T	TCGA-W5-AA2Z-01A-11D-A417-09		125133501	16079930	51	2465											
AGAP6	414189	broad.mit.edu	37	10	51768543	51768543	+	Missense_Mutation	SNP	T	T	C	rs368970869		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	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													AGAP6,NS,carcinoma,0,3	AGAP6	53	3	Substitution - Missense(3)	endometrium(2)|NS(1)	c.T658C						.																																			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	222	1		335	4	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		0.532	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		C	51768543	T	C	51768543	3	2	18	1	0	0	0	0	1	0	0	0	372	1435	50	4	688	4	AGAP6	10	51768543	Missense_Mutation	SNP	T	TCGA-W5-AA2Z-01A-11D-A417-09		51768543	83766204	52	2466											
PSAP	5660	hgsc.bcm.edu;bcgsc.ca	37	10	73588681	73588681	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr10:73588681G>T	ENST00000394936.3	-	5	676	c.529C>A	c.(529-531)Ctc>Atc	p.L177I	PSAP_ENST00000394934.1_Missense_Mutation_p.L177I			P07602	SAP_HUMAN	prosaposin	177					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						TAGAGGAGGAGAGGGATGTTG	0.582																																					p.L177I		.											.	.	.	0			c.C529A						.						68	66	67					10																	73588681		2203	4300	6503	SO:0001583	missense	5660	exon5			GGAGGAGAGGGAT	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	ENST00000394936.3:c.529C>A	10.37:g.73588681G>T	ENSP00000378394:p.Leu177Ile	53	0		55	4	NM_001042466	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760639	0.69763	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.72051	-0.62;-0.61	5.06	4.15	0.48705	.	0.445971	0.24933	N	0.034448	T	0.77350	0.4117	M	0.75264	2.295	0.37503	D	0.916834	D	0.54601	0.967	P	0.53224	0.721	T	0.79524	-0.1768	10	0.32370	T	0.25	-1.51	13.5169	0.61545	0.0773:0.0:0.9227:0.0	.	177	P07602	SAP_HUMAN	I	177;177;177;177;180;102	ENSP00000378394:L177I;ENSP00000378392:L177I	ENSP00000350063:L177I	L	-	1	0	PSAP	73258687	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.285000	0.58989	1.269000	0.44280	0.313000	0.20887	CTC	.		0.582	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		T	73588681	G	T	73588681	3	4	18	1	0	0	0	0	1	0	0	0	12685	942	33	3	1101	3	PSAP	10	73588681	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	21820138	73588681	61946066	53	2467											
SYCE1	93426	hgsc.bcm.edu	37	10	135371375	135371375	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr10:135371375C>T	ENST00000343131.5	-	6	471	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SYCE1_ENST00000368517.3_Missense_Mutation_p.A87T|SYCE1_ENST00000432597.2_Missense_Mutation_p.A87T|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	123					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)		TACCTGTGTGCCTCACTTTCC	0.512																																					p.A123T		.											SYCE1_ENST00000343131,NS,malignant_melanoma,0,2	SYCE1_ENST00000343131	0	0			c.G367A						.						127	93	104					10																	135371375		2203	4300	6503	SO:0001583	missense	93426	exon6			TGTGTGCCTCACT	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.367G>A	10.37:g.135371375C>T	ENSP00000341282:p.Ala123Thr	48	0		43	2	NM_001143763	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901467	0.72754	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.34275	1.37;3.19;3.19;3.19	4.44	3.52	0.40303	.	0.096894	0.45361	D	0.000377	T	0.44644	0.1303	L	0.40543	1.245	0.29186	N	0.876154	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.26326	-1.0106	10	0.30078	T	0.28	-12.3155	9.8501	0.41051	0.2041:0.7959:0.0:0.0	.	123;87	Q8N0S2;Q8N0S2-2	SYCE1_HUMAN;.	T	123;87;87;123	ENSP00000303978:A123T;ENSP00000411779:A87T;ENSP00000357503:A87T;ENSP00000341282:A123T	ENSP00000303978:A123T	A	-	1	0	SYCE1	135221365	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	0.863000	0.27913	1.442000	0.47568	0.655000	0.94253	GCA	.		0.512	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		T	135371375	C	T	135371375	3	4	18	1	0	0	0	0	1	0	0	0	15475	739	26	3	763	3	SYCE1	10	135371375	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	61782694	135371375	163372	54	2468											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1247459	1247459	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:1247459G>A	ENST00000529681.1	+	3	210	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	MUC5B_ENST00000447027.1_Missense_Mutation_p.R51Q	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	51			R -> W (in dbSNP:rs2075853).		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)		TCGCCCACCCGGCGCGTGAGC	0.672																																					p.R51Q		.											.	.	.	0			c.G152A						.						21	27	25					11																	1247459		1952	4063	6015	SO:0001583	missense	727897	exon3			CCACCCGGCGCGT	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.152G>A	11.37:g.1247459G>A	ENSP00000436812:p.Arg51Gln	85	0		104	38	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327926	0.24080	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18960	2.18;2.36	3.24	0.275	0.15659	.	.	.	.	.	T	0.14270	0.0345	L	0.52573	1.65	0.09310	N	1	B;P;P	0.35011	0.01;0.48;0.48	B;B;B	0.18561	0.002;0.013;0.022	T	0.17501	-1.0367	9	0.87932	D	0	.	5.11	0.14804	0.4158:0.0:0.5842:0.0	.	51;677;51	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	Q	51;51;51;54	ENSP00000436812:R51Q;ENSP00000415793:R51Q	ENSP00000343037:R51Q	R	+	2	0	MUC5B	1204035	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.073000	0.03430	0.220000	0.20860	0.561000	0.74099	CGG	.		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1247459	G	A	1247459	3	1	18	1	0	0	0	0	1	0	0	0	10017	1116	39	1	162	1	MUC5B	11	1247459	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		1247459	133759057	55	2469											
SAAL1	113174	hgsc.bcm.edu	37	11	18127573	18127573	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:18127573A>G	ENST00000524803.1	-	1	65	c.16T>C	c.(16-18)Tcg>Ccg	p.S6P	SAAL1_ENST00000529318.1_Missense_Mutation_p.S6P|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.S6P			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	6										breast(2)|large_intestine(5)|lung(8)	15						GGCGGCGGCGAGGGGTTGCGG	0.687											OREG0020819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S6P		.											.	.	.	0			c.T16C						.						24	22	22					11																	18127573		2199	4291	6490	SO:0001583	missense	113174	exon1			GCGGCGAGGGGTT	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.16T>C	11.37:g.18127573A>G	ENSP00000432487:p.Ser6Pro	76	0	723	97	6	NM_138421	A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.330841	0.81690	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000529318;ENST00000530180	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.46	5.46	0.80206	.	0.143663	0.48767	D	0.000161	T	0.55226	0.1907	L	0.54323	1.7	0.52501	D	0.999954	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.57487	-0.7803	10	0.72032	D	0.01	-5.4498	14.065	0.64824	1.0:0.0:0.0:0.0	.	6;6;6	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	P	6	ENSP00000432487:S6P;ENSP00000300013:S6P;ENSP00000432216:S6P;ENSP00000431489:S6P	ENSP00000300013:S6P	S	-	1	0	SAAL1	18084149	0.984000	0.35163	0.782000	0.31804	0.379000	0.30106	2.802000	0.47916	2.196000	0.70406	0.533000	0.62120	TCG	.		0.687	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		G	18127573	A	G	18127573	3	3	18	1	0	0	0	0	1	0	0	0	13846	304	11	4	1456	4	SAAL1	11	18127573	Missense_Mutation	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09	16880114	18127573	116878943	56	2470											
ACP2	53	hgsc.bcm.edu	37	11	47264423	47264423	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:47264423C>A	ENST00000256997.3	-	10	1105	c.989G>T	c.(988-990)cGg>cTg	p.R330L	ACP2_ENST00000533929.1_Missense_Mutation_p.R302L|ACP2_ENST00000527256.1_Missense_Mutation_p.R298L|ACP2_ENST00000537863.1_Missense_Mutation_p.R143L|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Missense_Mutation_p.R267L	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	330					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)	p.R330Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ACTCTCGTTCCGAAAGTACAT	0.642																																					p.R330L	Melanoma(90;262 1440 11488 44828 48531)	.											ACP2,colon,carcinoma,0,1	ACP2	0	1	Substitution - Missense(1)	large_intestine(1)	c.G989T						.						41	45	44					11																	47264423		2201	4297	6498	SO:0001583	missense	53	exon10			TCGTTCCGAAAGT	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.989G>T	11.37:g.47264423C>A	ENSP00000256997:p.Arg330Leu	29	0		29	2	NM_001610	E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756336	0.89843	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929;ENST00000529663	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	M	0.78049	2.395	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	T	0.72104	-0.4391	10	0.87932	D	0	.	18.8188	0.92088	0.0:1.0:0.0:0.0	.	267;298;302;320;330	E9PHY0;B7Z7D2;E9PQY3;F5H1S6;P11117	.;.;.;.;PPAL_HUMAN	L	330;267;298;143;320;302;297	ENSP00000256997:R330L;ENSP00000436658:R267L;ENSP00000432205:R298L;ENSP00000441933:R143L;ENSP00000432439:R302L;ENSP00000436487:R297L	ENSP00000256997:R330L	R	-	2	0	ACP2	47220999	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.487000	0.66863	2.438000	0.82558	0.460000	0.39030	CGG	.		0.642	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		A	47264423	C	A	47264423	3	1	18	1	0	0	0	0	1	0	0	0	163	652	23	2	290	2	ACP2	11	47264423	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	29136850	47264423	87742093	57	2471											
GLYATL1	92292	hgsc.bcm.edu	37	11	58723373	58723373	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:58723373C>A	ENST00000317391.4	+	8	1122	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.P292Q	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	261						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)	AAGAATATTCCATTTTACATC	0.463																																					p.P292Q		.											GLYATL1_ENST00000317391,NS,carcinoma,0,2	GLYATL1_ENST00000317391	0	0			c.C875A						.						76	71	73					11																	58723373		2201	4295	6496	SO:0001583	missense	92292	exon7			ATATTCCATTTTA	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.782C>A	11.37:g.58723373C>A	ENSP00000322223:p.Pro261Gln	29	0		20	2	NM_080661	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	12.40	1.926654	0.34002	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.17213	2.29;2.29	1.97	0.827	0.18835	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.000000	0.64402	U	0.000018	T	0.32675	0.0837	M	0.75085	2.285	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.09840	-1.0656	10	0.48119	T	0.1	.	3.9747	0.09468	0.0:0.711:0.0:0.289	.	292;261	Q969I3-2;Q969I3	.;GLYL1_HUMAN	Q	238;261;292	ENSP00000322223:P261Q;ENSP00000300079:P292Q	ENSP00000300079:P292Q	P	+	2	0	GLYATL1	58479949	0.204000	0.23447	0.021000	0.16686	0.151000	0.21798	0.585000	0.23879	-0.098000	0.12285	0.411000	0.27672	CCA	.		0.463	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		A	58723373	C	A	58723373	3	1	18	1	0	0	0	0	1	0	0	0	6506	594	21	3	901	3	GLYATL1	11	58723373	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	11458950	58723373	76283143	58	2472											
FTH1	2495	hgsc.bcm.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:61734852C>A	ENST00000273550.7	-	1	280	c.46G>T	c.(46-48)Gac>Tac	p.D16Y	FTH1_ENST00000529191.1_Missense_Mutation_p.D16Y|FTH1_ENST00000526640.1_Intron|FTH1_ENST00000529631.1_Missense_Mutation_p.D16Y|FTH1_ENST00000532601.1_5'Flank|AP003733.1_ENST00000601917.1_5'Flank	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697																																					p.D16Y		.											FTH1,NS,malignant_melanoma,0,1	FTH1	0	1	Substitution - Missense(1)	NS(1)	c.G46T						.						10	11	11					11																	61734852		1923	4038	5961	SO:0001583	missense	2495	exon1			CTGAGTCCTGGTG		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.46G>T	11.37:g.61734852C>A	ENSP00000273550:p.Asp16Tyr	38	0		29	3	NM_002032	B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	36	5.640479	0.96693	.	.	ENSG00000167996	ENST00000529191;ENST00000529631;ENST00000530019;ENST00000273550;ENST00000406545	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.76	4.76	0.60689	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.141911	0.64402	D	0.000007	D	0.84097	0.5397	H	0.96142	3.775	0.80722	D	1	P	0.49447	0.924	P	0.52309	0.695	D	0.89969	0.4092	10	0.87932	D	0	.	17.7341	0.88387	0.0:1.0:0.0:0.0	.	16	P02794	FRIH_HUMAN	Y	16;16;16;16;65	ENSP00000431659:D16Y;ENSP00000431575:D16Y;ENSP00000433470:D16Y;ENSP00000273550:D16Y	ENSP00000273550:D16Y	D	-	1	0	FTH1	61491428	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.164000	0.77533	2.319000	0.78375	0.484000	0.47621	GAC	.		0.697	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		A	61734852	C	A	61734852	3	1	18	1	0	0	0	0	1	0	0	0	6106	855	30	3	521	3	FTH1	11	61734852	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	3011479	61734852	73271664	59	2473											
TIGD3	220359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	65123582	65123582	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:65123582G>A	ENST00000309880.5	+	2	510	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	101	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGGGCCCATGCTGCTCCACA	0.642																																					p.M101I		.											.	.	.	0			c.G303A						.						57	61	59					11																	65123582		2201	4297	6498	SO:0001583	missense	220359	exon2			GCCCATGCTGCTC		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.303G>A	11.37:g.65123582G>A	ENSP00000308354:p.Met101Ile	38	0		34	13	NM_145719		Missense_Mutation	SNP	ENST00000309880.5	37	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470433	0.43942	.	.	ENSG00000173825	ENST00000309880	T	0.12672	2.66	4.48	3.47	0.39725	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.41500	D	0.000864	T	0.07052	0.0179	N	0.11023	0.085	0.31863	N	0.620786	B	0.25441	0.126	B	0.28916	0.096	T	0.15838	-1.0423	10	0.19147	T	0.46	-13.4584	9.7262	0.40333	0.0:0.2114:0.7886:0.0	.	101	Q6B0B8	TIGD3_HUMAN	I	101	ENSP00000308354:M101I	ENSP00000308354:M101I	M	+	3	0	TIGD3	64880158	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.647000	0.37260	2.453000	0.82957	0.456000	0.33151	ATG	.		0.642	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		A	65123582	G	A	65123582	3	1	18	1	0	0	0	0	1	0	0	0	15944	1319	46	3	305	3	TIGD3	11	65123582	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	3388730	65123582	69882934	60	2474											
SSH3	54961	hgsc.bcm.edu;bcgsc.ca	37	11	67074544	67074544	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:67074544C>T	ENST00000308127.4	+	5	674	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.P166S|SSH3_ENST00000376757.5_Missense_Mutation_p.P166S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	166					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)			CCTGGTCTTGCCCCTCTGGAG	0.607																																					p.P166S		.											.	.	.	0			c.C496T						.						60	61	61					11																	67074544		2200	4295	6495	SO:0001583	missense	54961	exon5			GTCTTGCCCCTCT	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.496C>T	11.37:g.67074544C>T	ENSP00000312081:p.Pro166Ser	39	0		46	4	NM_017857	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.140854	0.77775	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.42900	0.96;0.96;0.96	4.76	3.85	0.44370	.	0.214824	0.28338	N	0.015716	T	0.62011	0.2393	M	0.75085	2.285	0.54753	D	0.999989	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.969	T	0.64719	-0.6341	10	0.87932	D	0	-17.0896	10.8895	0.46988	0.0:0.9109:0.0:0.0891	.	20;166	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	S	166	ENSP00000312081:P166S;ENSP00000310055:P166S;ENSP00000365948:P166S	ENSP00000312081:P166S	P	+	1	0	SSH3	66831120	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.369000	0.79578	0.990000	0.38787	-0.141000	0.14075	CCC	.		0.607	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		T	67074544	C	T	67074544	3	4	18	1	0	0	0	0	1	0	0	0	15233	739	26	3	514	3	SSH3	11	67074544	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	1950962	67074544	67931972	61	2475											
MYO7A	4647	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	76883884	76883884	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:76883884C>A	ENST00000409709.3	+	16	2160	c.1888C>A	c.(1888-1890)Ccc>Acc	p.P630T	MYO7A_ENST00000409893.1_Missense_Mutation_p.P630T|MYO7A_ENST00000458637.2_Missense_Mutation_p.P630T|MYO7A_ENST00000409619.2_Missense_Mutation_p.P619T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	630	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)			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						TGCCTGCCAGCCCTTCTTTGT	0.647																																					p.P630T		.											.	.	.	0			c.C1888A						.						23	26	25					11																	76883884		2006	4074	6080	SO:0001583	missense	4647	exon16			TGCCAGCCCTTCT	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.1888C>A	11.37:g.76883884C>A	ENSP00000386331:p.Pro630Thr	53	0		39	17	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706461	0.89018	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.77	4.77	0.60923	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	M	0.89414	3.03	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	D	0.96939	0.9686	10	0.87932	D	0	.	18.1567	0.89693	0.0:1.0:0.0:0.0	.	630;630;630	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	630;630;630;619;629;629;506;629	ENSP00000386331:P630T;ENSP00000386689:P630T;ENSP00000392185:P630T;ENSP00000386635:P619T	ENSP00000345075:P506T	P	+	1	0	MYO7A	76561532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.339000	0.79282	2.368000	0.80403	0.549000	0.68633	CCC	.		0.647	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		A	76883884	C	A	76883884	3	1	18	1	0	0	0	0	1	0	0	0	10120	739	26	3	1946	3	MYO7A	11	76883884	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	9809340	76883884	58122632	62	2476											
FAT3	120114	hgsc.bcm.edu	37	11	92534618	92534618	+	Silent	SNP	C	C	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:92534618C>A	ENST00000298047.6	+	9	8456	c.8439C>A	c.(8437-8439)gtC>gtA	p.V2813V	FAT3_ENST00000409404.2_Silent_p.V2813V|FAT3_ENST00000525166.1_Silent_p.V2663V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2813	Cadherin 25. {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.V2813V(2)		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)				ACAAGCCAGTCTTTGAAACTT	0.418										TCGA Ovarian(4;0.039)																											p.V2813V		.											FAT3_ENST00000409404,NS,carcinoma,0,2	FAT3_ENST00000409404	0	2	Substitution - coding silent(2)	lung(2)	c.C8439A						.						51	52	52					11																	92534618		1904	4117	6021	SO:0001819	synonymous_variant	120114	exon9			GCCAGTCTTTGAA	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.8439C>A	11.37:g.92534618C>A		57	0		49	2	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92534618	C	A	92534618	2	1	18	1	0	0	0	0	0	0	0	1	5713	900	32	3		3	FAT3	11	92534618	Silent	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	15650734	92534618	42471898	63	2477											
SCN3B	55800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	123513240	123513240	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr11:123513240C>G	ENST00000392770.2	-	3	1161	c.359G>C	c.(358-360)tGc>tCc	p.C120S	SCN3B_ENST00000530277.1_Missense_Mutation_p.C120S|SCN3B_ENST00000299333.3_Missense_Mutation_p.C120S	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	120	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)	GGACACATTGCAGGTGTAGAG	0.597																																					p.C120S		.											.	.	.	0			c.G359C						.						102	95	97					11																	123513240		2202	4299	6501	SO:0001583	missense	55800	exon3			ACATTGCAGGTGT	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.359G>C	11.37:g.123513240C>G	ENSP00000376523:p.Cys120Ser	19	0		31	12	NM_018400	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294365	0.95546	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	D;D;D;D	0.99080	-5.4;-5.4;-5.4;-5.4	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99316	1.0905	10	0.87932	D	0	-4.2253	20.5666	0.99351	0.0:1.0:0.0:0.0	.	120	Q9NY72	SCN3B_HUMAN	S	120	ENSP00000376523:C120S;ENSP00000299333:C120S;ENSP00000432785:C120S;ENSP00000435554:C120S	ENSP00000299333:C120S	C	-	2	0	SCN3B	123018450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.410000	0.80065	2.854000	0.98071	0.655000	0.94253	TGC	.		0.597	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		G	123513240	C	G	123513240	3	3	18	1	0	0	0	0	1	0	0	0	13964	710	25	5	300	5	SCN3B	11	123513240	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	30978622	123513240	11493276	64	2478											
DYRK4	8798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	4700465	4700465	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr12:4700465G>A	ENST00000540757.2	+	3	278		c.e3+1		DYRK4_ENST00000010132.5_Splice_Site|DYRK4_ENST00000543431.1_Splice_Site	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							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)			ACAGCGGCAGGTATGCCTTTG	0.532																																					.		.											.	.	.	0			c.118+1G>A						.						66	60	62					12																	4700465		2203	4300	6503	SO:0001630	splice_region_variant	8798	exon3			CGGCAGGTATGCC	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.118+1G>A	12.37:g.4700465G>A		51	0		69	23	NM_003845	A8K8F7|Q8NEF2|Q92631	Splice_Site	SNP	ENST00000540757.2	37	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476641	0.44044	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6091	0.68504	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYRK4	4570726	1.000000	0.71417	0.978000	0.43139	0.124000	0.20399	5.127000	0.64727	2.359000	0.80004	0.505000	0.49811	.	.		0.532	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		Intron	A	4700465	G	A	4700465	5	1	18	1	0	0	0	0	0	0	1	0	4872	1275	44	3	121	3	DYRK4	12	4700465	Splice_Site	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		4700465	129151430	65	2479											
BICD1	636	hgsc.bcm.edu	37	12	32480599	32480599	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr12:32480599C>T	ENST00000281474.5	+	5	1313	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	BICD1_ENST00000548411.1_Missense_Mutation_p.H404Y	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	404					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGAGGAGGCCCATGACTATGA	0.532																																					p.H404Y		.											.	.	.	0			c.C1210T						.						60	55	57					12																	32480599		2203	4300	6503	SO:0001583	missense	636	exon5			GAGGCCCATGACT	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1210C>T	12.37:g.32480599C>T	ENSP00000281474:p.His404Tyr	18	0		43	4	NM_001714	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	9.954	1.220964	0.22457	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.42513	0.97;0.97	5.32	5.32	0.75619	.	0.180797	0.50627	D	0.000103	T	0.36608	0.0973	L	0.38531	1.155	0.80722	D	1	P;P	0.44578	0.838;0.662	B;B	0.37550	0.253;0.137	T	0.34950	-0.9808	10	0.62326	D	0.03	.	19.3625	0.94446	0.0:1.0:0.0:0.0	.	404;404	F8W113;Q96G01	.;BICD1_HUMAN	Y	404	ENSP00000446793:H404Y;ENSP00000281474:H404Y	ENSP00000281474:H404Y	H	+	1	0	BICD1	32371866	0.184000	0.23200	0.999000	0.59377	0.952000	0.60782	1.552000	0.36244	2.653000	0.90120	0.655000	0.94253	CAT	.		0.532	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		T	32480599	C	T	32480599	3	4	18	1	0	0	0	0	1	0	0	0	1430	594	21	3	1228	3	BICD1	12	32480599	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	27780134	32480599	101371296	66	2480											
DTX1	1840	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	113531422	113531422	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr12:113531422C>T	ENST00000257600.3	+	4	1585	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	361	Pro-rich.				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						CTGCACCCGCCGCCCGTGAGC	0.692																																					p.P361L		.											.	.	.	0			c.C1082T						.						15	21	19					12																	113531422		2196	4290	6486	SO:0001583	missense	1840	exon4			ACCCGCCGCCCGT	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.1082C>T	12.37:g.113531422C>T	ENSP00000257600:p.Pro361Leu	39	0		64	13	NM_004416	O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414564	0.83449	.	.	ENSG00000135144	ENST00000257600	T	0.18338	2.22	3.79	3.79	0.43588	.	0.124934	0.53938	D	0.000044	T	0.20981	0.0505	M	0.76574	2.34	0.80722	D	1	P	0.41569	0.755	B	0.35550	0.205	T	0.18366	-1.0339	10	0.49607	T	0.09	-0.0647	15.2654	0.73657	0.0:1.0:0.0:0.0	.	361	Q86Y01	DTX1_HUMAN	L	361	ENSP00000257600:P361L	ENSP00000257600:P361L	P	+	2	0	DTX1	112015805	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	7.630000	0.83225	2.060000	0.61445	0.491000	0.48974	CCG	.		0.692	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			T	113531422	C	T	113531422	3	4	18	1	0	0	0	0	1	0	0	0	4807	652	23	1	1096	1	DTX1	12	113531422	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	81050823	113531422	20320473	67	2481											
COL4A1	1282	ucsc.edu;bcgsc.ca	37	13	110850904	110850904	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr13:110850904G>T	ENST00000375820.4	-	21	1316	c.1195C>A	c.(1195-1197)Cct>Act	p.P399T	COL4A1_ENST00000543140.1_Missense_Mutation_p.P399T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	399	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)			GATGTACCAGGAAATCCTCGG	0.607																																					p.P399T													.	COL4A1	372	0			c.C1195A						.						63	66	65					13																	110850904		2203	4300	6503	SO:0001583	missense	1282	exon21			TACCAGGAAATCC	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.1195C>A	13.37:g.110850904G>T	ENSP00000364979:p.Pro399Thr	37	0		29	4	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613880	0.28712	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.96651	-4.08;-4.08	5.0	5.0	0.66597	.	0.421699	0.26136	N	0.026134	D	0.98153	0.9390	M	0.84846	2.72	0.53005	D	0.999961	D	0.89917	1.0	D	0.91635	0.999	D	0.98385	1.0560	10	0.44086	T	0.13	.	17.0939	0.86628	0.0:0.0:1.0:0.0	.	399	P02462	CO4A1_HUMAN	T	393;399;399;399	ENSP00000364979:P399T;ENSP00000443348:P399T	ENSP00000364973:P393T	P	-	1	0	COL4A1	109648905	1.000000	0.71417	0.229000	0.23960	0.065000	0.16274	4.968000	0.63728	2.306000	0.77630	0.650000	0.86243	CCT	.		0.607	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110850904	G	T	110850904	3	4	18	1	0	0	0	0	1	0	0	0	3696	1174	41	3	3942	3	COL4A1	13	110850904	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		110850904	4318974	68	2482											
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619480	+	Missense_Mutation	SNP	T	T	C	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr14:53619480T>C	ENST00000323669.5	-	1	336	c.337A>G	c.(337-339)Agc>Ggc	p.S113G	DDHD1_ENST00000395606.1_Missense_Mutation_p.S113G|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.S113G|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	113					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCG	0.701																																					p.S113G		.											.,102	.	202	0			c.A337G						.						6	8	7					14																	53619480		1971	3847	5818	SO:0001583	missense	80821	exon1			AGGAGCTGCCGCC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.337A>G	14.37:g.53619480T>C	ENSP00000327104:p.Ser113Gly	9	0		15	4	NM_001160147	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006520	0.54361	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.77	2.61	0.31194	.	0.746995	0.12231	N	0.487421	T	0.35566	0.0936	N	0.22421	0.69	0.20975	N	0.999816	P;B;P	0.52577	0.954;0.0;0.954	D;B;D	0.66351	0.916;0.0;0.943	T	0.17167	-1.0378	9	0.18276	T	0.48	-5.0646	3.2899	0.06945	0.0:0.2878:0.2128:0.4994	.	113;113;113	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	G	113	.	ENSP00000327104:S113G	S	-	1	0	DDHD1	52689230	.	.	0.767000	0.31495	0.958000	0.62258	.	.	0.510000	0.28216	0.374000	0.22700	AGC	.		0.701	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			C	53619480	T	C	53619480	3	2	18	1	0	0	0	0	1	0	0	0	4335	1580	55	4	2442	4	DDHD1	14	53619480	Missense_Mutation	SNP	T	TCGA-W5-AA2Z-01A-11D-A417-09		53619480	53730060	69	2483											
DLGAP5	9787	hgsc.bcm.edu	37	14	55636119	55636119	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr14:55636119G>T	ENST00000247191.2	-	12	1762	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.Q516K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	516					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)	p.Q516K(1)		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						CCACATACCTGAAAACTAACC	0.323																																					p.Q516K		.											DLGAP5,NS,carcinoma,0,1	DLGAP5	0	1	Substitution - Missense(1)	lung(1)	c.C1546A						.						99	94	96					14																	55636119		2203	4300	6503	SO:0001583	missense	9787	exon12			ATACCTGAAAACT	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.1546C>A	14.37:g.55636119G>T	ENSP00000247191:p.Gln516Lys	36	0		32	2	NM_014750	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644612	0.67358	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.20200	2.09;2.09	5.85	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.972;0.992	T	0.61564	-0.7037	10	0.72032	D	0.01	.	16.0203	0.80478	0.0674:0.0:0.9326:0.0	.	516;516	A8MTM6;Q15398	.;DLGP5_HUMAN	K	516	ENSP00000378815:Q516K;ENSP00000247191:Q516K	ENSP00000247191:Q516K	Q	-	1	0	DLGAP5	54705872	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	7.297000	0.78799	2.941000	0.99782	0.655000	0.94253	CAG	.		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		T	55636119	G	T	55636119	3	4	18	1	0	0	0	0	1	0	0	0	4577	1299	45	3	1121	3	DLGAP5	14	55636119	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	2016639	55636119	51713421	70	2484											
RYR3	6263	bcgsc.ca	37	15	33765642	33765642	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr15:33765642G>A	ENST00000389232.4	+	2	144	c.74G>A	c.(73-75)tGc>tAc	p.C25Y	RYR3_ENST00000415757.3_Missense_Mutation_p.C25Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	25					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)		GTACTCCAGTGCATCGCCACC	0.562																																					p.C25Y													.	RYR3	760	0			c.G74A						.						109	111	110					15																	33765642		2091	4220	6311	SO:0001583	missense	6263	exon2			TCCAGTGCATCGC		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.74G>A	15.37:g.33765642G>A	ENSP00000373884:p.Cys25Tyr	36	0		20	3	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533659	0.85812	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98701	-5.08;-5.08	4.86	4.86	0.63082	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.058919	0.64402	D	0.000001	D	0.99077	0.9683	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	D	0.99671	1.0996	10	0.87932	D	0	.	16.924	0.86170	0.0:0.0:1.0:0.0	.	25;25	Q15413-2;Q15413	.;RYR3_HUMAN	Y	25	ENSP00000373884:C25Y;ENSP00000399610:C25Y	ENSP00000354735:C25Y	C	+	2	0	RYR3	31552934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.149000	0.94659	2.508000	0.84585	0.650000	0.86243	TGC	.		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33765642	G	A	33765642	3	1	18	1	0	0	0	0	1	0	0	0	13815	1319	46	3	80	3	RYR3	15	33765642	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		33765642	68765750	71	2485											
HERC1	8925	hgsc.bcm.edu;bcgsc.ca	37	15	63967058	63967058	+	Silent	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr15:63967058G>T	ENST00000443617.2	-	38	7416	c.7329C>A	c.(7327-7329)ggC>ggA	p.G2443G	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	2443					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						CAGATGTTAGGCCTGTTCGCA	0.433																																					p.G2443G		.											.	.	.	0			c.C7329A						.						186	179	181					15																	63967058		2037	4212	6249	SO:0001819	synonymous_variant	8925	exon38			TGTTAGGCCTGTT	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.7329C>A	15.37:g.63967058G>T		63	0		65	4	NM_003922	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																			.		0.433	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63967058	G	T	63967058	2	4	18	1	0	0	0	0	0	0	0	1	7084	1190	42	3		3	HERC1	15	63967058	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	30201416	63967058	38564334	72	2486											
GOLGA6B	55889	broad.mit.edu	37	15	72954652	72954652	+	Missense_Mutation	SNP	G	G	A	rs201023176		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr15:72954652G>A	ENST00000421285.3	+	11	907	c.907G>A	c.(907-909)Gag>Aag	p.E303K	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	303						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GCTACAAGATGAGGCCAAACA	0.542																																					p.E303K													.	GOLGA6B	30	0			c.G907A						.						19	20	19					15																	72954652		1615	3286	4901	SO:0001583	missense	55889	exon11			CAAGATGAGGCCA		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.907G>A	15.37:g.72954652G>A	ENSP00000408132:p.Glu303Lys	51	1		59	5	NM_018652	A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	12.22	1.873991	0.33069	.	.	ENSG00000215186	ENST00000421285	T	0.27402	1.67	0.69	-1.38	0.09027	.	.	.	.	.	T	0.46927	0.1418	M	0.86953	2.85	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.41052	-0.9530	9	0.72032	D	0.01	.	3.318	0.07040	0.243:0.2692:0.4878:0.0	.	303	A6NDN3	GOG6B_HUMAN	K	303	ENSP00000408132:E303K	ENSP00000408132:E303K	E	+	1	0	GOLGA6B	70741706	0.994000	0.37717	0.000000	0.03702	0.138000	0.21146	0.379000	0.20585	-1.142000	0.02869	0.089000	0.15464	GAG	G|0.998;A|0.002		0.542	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		A	72954652	G	A	72954652	3	1	18	1	0	0	0	0	1	0	0	0	6584	1291	45	3	949	3	GOLGA6B	15	72954652	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	8987594	72954652	29576740	73	2487											
ADAMTS7	11173	hgsc.bcm.edu	37	15	79090371	79090371	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr15:79090371G>T	ENST00000388820.4	-	3	751	c.541C>A	c.(541-543)Cat>Aat	p.H181N	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	181					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						TACACCACATGGGGCTGGGCG	0.627																																					p.H181N		.											ADAMTS7,NS,malignant_melanoma,0,1	ADAMTS7	0	0			c.C541A						.						62	63	62					15																	79090371		2196	4293	6489	SO:0001583	missense	11173	exon3			CCACATGGGGCTG	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.541C>A	15.37:g.79090371G>T	ENSP00000373472:p.His181Asn	33	0		51	3	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540119	0.65085	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.12147	2.71	4.26	4.26	0.50523	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.93854	3.465	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.995;0.993	T	0.64271	-0.6447	10	0.87932	D	0	.	15.5895	0.76517	0.0:0.0:1.0:0.0	.	181;181;181	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	N	181	ENSP00000373472:H181N	ENSP00000373472:H181N	H	-	1	0	ADAMTS7	76877426	1.000000	0.71417	0.959000	0.39883	0.344000	0.29017	6.570000	0.73996	2.083000	0.62718	0.313000	0.20887	CAT	.		0.627	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79090371	G	T	79090371	3	4	18	1	0	0	0	0	1	0	0	0	271	1348	47	3	4607	3	ADAMTS7	15	79090371	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	6135719	79090371	23441021	74	2488											
FANCI	55215	hgsc.bcm.edu	37	15	89856160	89856160	+	Missense_Mutation	SNP	C	C	T	rs367665900		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr15:89856160C>T	ENST00000310775.7	+	35	3763	c.3677C>T	c.(3676-3678)aCg>aTg	p.T1226M	FANCI_ENST00000300027.8_Missense_Mutation_p.T1166M|FANCI_ENST00000566615.1_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1226					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)					CTGAACTATACGGGAGAGAAA	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.T1226M		.											.	.	.	0			c.C3677T						.	C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	72	72	72		3677,3497	4.5	0.7	15		72	0,8598		0,0,4299	no	missense,missense	FANCI	NM_001113378.1,NM_018193.2	81,81	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1226/1329,1166/1269	89856160	1,12997	2200	4299	6499	SO:0001583	missense	55215	exon35	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ACTATACGGGAGA	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.3677C>T	15.37:g.89856160C>T	ENSP00000310842:p.Thr1226Met	95	0		84	4	NM_001113378	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108084	0.37242	2.27E-4	0.0	ENSG00000140525	ENST00000300027;ENST00000310775	T;T	0.70045	-0.45;-0.45	5.37	4.46	0.54185	.	0.783877	0.12621	N	0.453049	T	0.64505	0.2604	L	0.36672	1.1	0.80722	D	1	D;D;D	0.59357	0.98;0.985;0.985	P;P;P	0.50617	0.646;0.564;0.564	T	0.61088	-0.7133	10	0.46703	T	0.11	-7.0E-4	9.975	0.41777	0.0:0.9094:0.0:0.0906	.	1226;1165;1166	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	M	1166;1226	ENSP00000300027:T1166M;ENSP00000310842:T1226M	ENSP00000300027:T1166M	T	+	2	0	FANCI	87657164	0.910000	0.30920	0.721000	0.30653	0.298000	0.27526	2.550000	0.45811	1.499000	0.48617	0.650000	0.86243	ACG	.		0.403	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		T	89856160	C	T	89856160	3	4	18	1	0	0	0	0	1	0	0	0	5691	536	19	1	3811	1	FANCI	15	89856160	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	10765789	89856160	12675232	75	2489											
ZNF598	90850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	2052396	2052396	+	Missense_Mutation	SNP	G	G	A	rs560217707		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr16:2052396G>A	ENST00000563630.1	-	5	783	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ZNF598_ENST00000562103.1_Missense_Mutation_p.R181W|ZNF598_ENST00000431526.1_Missense_Mutation_p.R236W			Q86UK7	ZN598_HUMAN	zinc finger protein 598	236							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						TGCTTCTCCCGGAAGTGCTCA	0.657																																					p.R236W		.											.	.	.	0			c.C706T						.						71	80	77					16																	2052396		2143	4244	6387	SO:0001583	missense	90850	exon7			TCTCCCGGAAGTG	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.541C>T	16.37:g.2052396G>A	ENSP00000455882:p.Arg181Trp	17	0		30	12	NM_178167	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	22.1	4.246377	0.80024	.	.	ENSG00000167962	ENST00000431526	T	0.34072	1.38	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75286	-0.3371	10	0.87932	D	0	-25.9293	13.7201	0.62720	0.0:0.0:0.8455:0.1545	.	236	Q86UK7	ZN598_HUMAN	W	236	ENSP00000411409:R236W	ENSP00000411409:R236W	R	-	1	2	ZNF598	1992397	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.651000	0.61447	2.274000	0.75844	0.462000	0.41574	CGG	.		0.657	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		A	2052396	G	A	2052396	3	1	18	1	0	0	0	0	1	0	0	0	18076	1115	39	1	2040	1	ZNF598	16	2052396	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		2052396	88302357	76	2490											
C16orf59	80178	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2510831	2510831	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr16:2510831C>G	ENST00000361837.4	+	4	276	c.211C>G	c.(211-213)Cca>Gca	p.P71A	C16orf59_ENST00000569496.1_Missense_Mutation_p.P71A|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.P71A	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	71										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CACACCCAGTCCACAAGACCT	0.567																																					p.P71A													.	C16orf59	13	0			c.C211G						.						78	86	83					16																	2510831		2063	4218	6281	SO:0001583	missense	80178	exon4			CCCAGTCCACAAG	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.211C>G	16.37:g.2510831C>G	ENSP00000355022:p.Pro71Ala	42	0		43	5	NM_025108	B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591747	0.28357	.	.	ENSG00000162062	ENST00000361837	T	0.46451	0.87	4.59	2.57	0.30868	.	0.272597	0.19489	U	0.113023	T	0.38268	0.1034	M	0.62723	1.935	0.18873	N	0.999989	P	0.40180	0.705	B	0.41510	0.359	T	0.24225	-1.0166	10	0.46703	T	0.11	-4.3981	5.0685	0.14594	0.2063:0.6842:0.0:0.1095	.	71	Q7L2K0	CP059_HUMAN	A	71	ENSP00000355022:P71A	ENSP00000355022:P71A	P	+	1	0	C16orf59	2450832	0.016000	0.18221	0.003000	0.11579	0.006000	0.05464	1.003000	0.29809	0.625000	0.30304	0.655000	0.94253	CCA	.		0.567	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		G	2510831	C	G	2510831	3	3	18	1	0	0	0	0	1	0	0	0	1828	855	30	5	225	5	C16orf59	16	2510831	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	458435	2510831	87843922	77	2491											
BTBD12	84464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	3640840	3640840	+	Silent	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr16:3640840G>T	ENST00000294008.3	-	12	3439	c.2799C>A	c.(2797-2799)ggC>ggA	p.G933G		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	933	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						CTGAGTGCTGGCCCTGGGGTG	0.682								Direct reversal of damage																													p.G933G		.											.	.	.	0			c.C2799A						.						61	66	64					16																	3640840		2197	4300	6497	SO:0001819	synonymous_variant	84464	exon12			GTGCTGGCCCTGG	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.2799C>A	16.37:g.3640840G>T		25	0		34	4	NM_032444	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																			.		0.682	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3640840	G	T	3640840	2	4	18	1	0	0	0	0	0	0	0	1	1544	1190	42	3		3	BTBD12	16	3640840	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	1130009	3640840	86713913	78	2492											
BRD7	29117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	50368662	50368662	+	Nonsense_Mutation	SNP	C	C	A	rs573438030		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr16:50368662C>A	ENST00000394688.3	-	7	1006	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.E283*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	283					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)				GCGTGTGCTTCGGCATCTCCA	0.473																																					p.E283X		.											.	.	.	0			c.G847T						.						134	140	138					16																	50368662		2198	4300	6498	SO:0001587	stop_gained	29117	exon7			GTGCTTCGGCATC	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.847G>T	16.37:g.50368662C>A	ENSP00000378180:p.Glu283*	24	0		13	9	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487393	0.84854	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.47	5.47	0.80525	.	0.358682	0.34959	N	0.003542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-11.8466	17.8821	0.88843	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000378180:E283X	E	-	1	0	BRD7	48926163	0.937000	0.31787	0.293000	0.24932	0.557000	0.35523	3.193000	0.50997	2.733000	0.93635	0.650000	0.86243	GAA	.		0.473	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		A	50368662	C	A	50368662	4	1	18	1	0	0	0	0	0	1	0	0	1509	893	31	2	1155	2	BRD7	16	50368662	Nonsense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	46727822	50368662	39986091	79	2493											
WWP2	11060	hgsc.bcm.edu	37	16	69921986	69921986	+	Missense_Mutation	SNP	G	G	T	rs139052693		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr16:69921986G>T	ENST00000359154.2	+	8	849	c.748G>T	c.(748-750)Gtt>Ttt	p.V250F	WWP2_ENST00000448661.1_Missense_Mutation_p.V250F|WWP2_ENST00000542271.1_Missense_Mutation_p.V134F|WWP2_ENST00000569174.1_Missense_Mutation_p.V250F|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.V250F	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	250					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						AGAACCTTCCGTTGTTGGTGT	0.488																																					p.V250F		.											WWP2,NS,carcinoma,0,1	WWP2	0	0			c.G748T						.						152	129	137					16																	69921986		2198	4300	6498	SO:0001583	missense	11060	exon8			CCTTCCGTTGTTG	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.748G>T	16.37:g.69921986G>T	ENSP00000352069:p.Val250Phe	51	0		49	2	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836073	0.32421	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.93	4.97	0.65823	.	0.478491	0.21880	N	0.067746	T	0.19805	0.0476	N	0.24115	0.695	0.29065	N	0.883668	B	0.33379	0.41	B	0.29785	0.107	T	0.08126	-1.0737	9	.	.	.	.	12.9533	0.58413	0.0759:0.0:0.9241:0.0	.	250	O00308	WWP2_HUMAN	F	250;250;250;137;134	ENSP00000352069:V250F;ENSP00000396871:V250F;ENSP00000348283:V250F;ENSP00000445616:V134F	.	V	+	1	0	WWP2	68479487	0.235000	0.23794	0.979000	0.43373	0.024000	0.10985	1.577000	0.36515	2.815000	0.96918	0.561000	0.74099	GTT	.		0.488	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		T	69921986	G	T	69921986	3	4	18	1	0	0	0	0	1	0	0	0	17465	1145	40	2	774	2	WWP2	16	69921986	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	19553324	69921986	20432767	80	2494											
KIAA0664	23277	hgsc.bcm.edu	37	17	2598253	2598253	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr17:2598253G>C	ENST00000570628.2	-	16	2738	c.2633C>G	c.(2632-2634)cCg>cGg	p.P878R	CLUH_ENST00000435359.1_Missense_Mutation_p.P878R|CLUH_ENST00000538975.1_Missense_Mutation_p.P878R			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	878					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGCAGCCCCCGGGGGCCGGTT	0.602																																					p.P878R		.											.,2	.	.	0			c.C2633G						.						28	32	31					17																	2598253		1852	4085	5937	SO:0001583	missense	23277	exon16			GCCCCCGGGGGCC	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.2633C>G	17.37:g.2598253G>C	ENSP00000458986:p.Pro878Arg	32	0		32	4	NM_015229	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	g	3.635	-0.074818	0.07184	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80304	-1.36;-1.36	5.48	4.37	0.52481	.	0.122706	0.56097	D	0.000023	T	0.72566	0.3476	L	0.37697	1.125	0.42761	D	0.993808	B;B	0.25048	0.117;0.117	B;B	0.37780	0.258;0.209	T	0.62506	-0.6840	10	0.18276	T	0.48	.	6.4298	0.21790	0.3346:0.0:0.6654:0.0	.	878;879	O75153;C9J6D7	K0664_HUMAN;.	R	878;879;878	ENSP00000388872:P878R;ENSP00000439628:P878R	ENSP00000320468:P879R	P	-	2	0	KIAA0664	2545003	0.971000	0.33674	0.724000	0.30704	0.241000	0.25554	2.362000	0.44169	1.066000	0.40716	0.556000	0.70494	CCG	.		0.602	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		C	2598253	G	C	2598253	3	2	18	1	0	0	0	0	1	0	0	0	8216	1116	39	5	1340	5	KIAA0664	17	2598253	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		2598253	78596957	81	2495											
GRB7	2886	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	37899545	37899545	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr17:37899545G>T	ENST00000309156.4	+	5	833	c.576G>T	c.(574-576)aaG>aaT	p.K192N	GRB7_ENST00000394209.2_Missense_Mutation_p.K192N|GRB7_ENST00000394204.1_Missense_Mutation_p.K192N|GRB7_ENST00000394211.3_Missense_Mutation_p.K192N|GRB7_ENST00000445327.2_Missense_Mutation_p.K215N|GRB7_ENST00000309185.3_Missense_Mutation_p.K192N|GRB7_ENST00000578702.1_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	192					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)			AACTGTTCAAGAGCTCCCCAG	0.602																																					p.K215N		.											.	.	.	0			c.G645T						.						96	92	93					17																	37899545		2203	4300	6503	SO:0001583	missense	2886	exon5			GTTCAAGAGCTCC	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.576G>T	17.37:g.37899545G>T	ENSP00000310771:p.Lys192Asn	37	0		39	4	NM_001242442	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396168	0.42512	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.31	5.31	0.75309	.	0.092388	0.64402	D	0.000001	T	0.81044	0.4741	L	0.57536	1.79	0.43740	D	0.996232	D;D	0.65815	0.995;0.995	P;P	0.60415	0.837;0.874	T	0.82125	-0.0612	10	0.72032	D	0.01	-37.0618	12.913	0.58190	0.0:0.0:0.8374:0.1625	.	192;192	Q14451-2;Q14451	.;GRB7_HUMAN	N	192;192;192;192;215;192	ENSP00000311752:K192N;ENSP00000310771:K192N;ENSP00000377761:K192N;ENSP00000377759:K192N;ENSP00000403459:K215N;ENSP00000377754:K192N	ENSP00000310771:K192N	K	+	3	2	GRB7	35153071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.021000	0.41020	2.768000	0.95171	0.561000	0.74099	AAG	.		0.602	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		T	37899545	G	T	37899545	3	4	18	1	0	0	0	0	1	0	0	0	6786	933	33	3	590	3	GRB7	17	37899545	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	35301292	37899545	43295665	82	2496											
KRTAP9-3	83900	hgsc.bcm.edu	37	17	39389206	39389206	+	Silent	SNP	C	C	T	rs562752908		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr17:39389206C>T	ENST00000411528.2	+	1	492	c.453C>T	c.(451-453)taC>taT	p.Y151Y		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	151	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGTGTGTACAGCTGCTGCC	0.552													.|||	1	0.000199681	0	0.0014	5008	,	,		19446	0		0	False		,,,				2504	0				p.Y151Y		.											.	.	.	0			c.C453T						.						135	170	158					17																	39389206		2104	4300	6404	SO:0001819	synonymous_variant	83900	exon1			TGTGTACAGCTGC	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.453C>T	17.37:g.39389206C>T		60	0		72	4	NM_031962		Silent	SNP	ENST00000411528.2	37	CCDS11385.1																																																																																			.		0.552	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			T	39389206	C	T	39389206	2	4	18	1	0	0	0	0	0	0	0	1	8602	489	17	3		3	KRTAP9-3	17	39389206	Silent	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	1489661	39389206	41806004	83	2497											
INTS2	57508	hgsc.bcm.edu	37	17	59981823	59981823	+	Silent	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr17:59981823G>T	ENST00000444766.3	-	9	1404	c.1329C>A	c.(1327-1329)gtC>gtA	p.V443V	INTS2_ENST00000251334.6_Silent_p.V435V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	443					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						TTAGGTACCTGACAAGTGTAG	0.388																																					p.V443V		.											INTS2,bladder,carcinoma,0,1	INTS2	0	0			c.C1329A						.						63	62	62					17																	59981823		1891	4095	5986	SO:0001819	synonymous_variant	57508	exon9			GTACCTGACAAGT	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.1329C>A	17.37:g.59981823G>T		43	0		46	2	NM_020748	Q9ULD3	Silent	SNP	ENST00000444766.3	37	CCDS45750.1																																																																																			.		0.388	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		T	59981823	G	T	59981823	2	4	18	1	0	0	0	0	0	0	0	1	7805	1277	45	3		3	INTS2	17	59981823	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	20592617	59981823	21213387	84	2498											
TEX2	55852	hgsc.bcm.edu	37	17	62248512	62248512	+	Silent	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr17:62248512G>T	ENST00000583097.1	-	7	2791	c.2619C>A	c.(2617-2619)ggC>ggA	p.G873G	TEX2_ENST00000584379.1_Silent_p.G873G|TEX2_ENST00000258991.3_Silent_p.G880G			Q8IWB9	TEX2_HUMAN	testis expressed 2	873					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)		GCACAGCCACGCCCATGTCAA	0.443																																					p.G880G		.											TEX2,NS,carcinoma,0,1	TEX2	0	0			c.C2640A						.						126	105	112					17																	62248512		2203	4300	6503	SO:0001819	synonymous_variant	55852	exon7			AGCCACGCCCATG	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.2619C>A	17.37:g.62248512G>T		34	0		30	3	NM_018469	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																				.		0.443	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		T	62248512	G	T	62248512	2	4	18	1	0	0	0	0	0	0	0	1	15828	1074	38	2		2	TEX2	17	62248512	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	2266689	62248512	18946698	85	2499											
ACTG1	71	hgsc.bcm.edu	37	17	79478576	79478576	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr17:79478576C>T	ENST00000575842.1	-	3	866	c.440G>A	c.(439-441)cGc>cAc	p.R147H	ACTG1_ENST00000331925.2_Missense_Mutation_p.R147H|RP13-766D20.2_ENST00000430912.1_RNA|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.R147H|ACTG1_ENST00000573283.1_Missense_Mutation_p.R147H			P63261	ACTG_HUMAN	actin, gamma 1	147					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)			GCCAGTGGTGCGCCCAGAGGC	0.627																																					p.R147H		.											ACTG1,colon,carcinoma,0,1	ACTG1	0	0			c.G440A						.						69	75	73					17																	79478576		2203	4300	6503	SO:0001583	missense	71	exon4			GTGGTGCGCCCAG		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.440G>A	17.37:g.79478576C>T	ENSP00000458162:p.Arg147His	35	0		27	2	NM_001614	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195859	0.38806	.	.	ENSG00000184009	ENST00000331925	D	0.98455	-4.94	4.6	1.45	0.22620	.	0.000000	0.64402	D	0.000001	D	0.98333	0.9447	H	0.97465	4.01	0.47778	D	0.999513	P	0.49090	0.919	P	0.46076	0.503	D	0.96416	0.9308	10	0.87932	D	0	.	6.6797	0.23113	0.0:0.6841:0.1472:0.1687	.	147	P63261	ACTG_HUMAN	H	147	ENSP00000331514:R147H	ENSP00000331514:R147H	R	-	2	0	ACTG1	77093171	1.000000	0.71417	0.516000	0.27786	0.442000	0.32017	7.475000	0.81041	0.060000	0.16281	0.558000	0.71614	CGC	.		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		T	79478576	C	T	79478576	3	4	18	1	0	0	0	0	1	0	0	0	196	768	27	1	699	1	ACTG1	17	79478576	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	17230064	79478576	1716634	86	2500											
FSD1	79187	hgsc.bcm.edu;bcgsc.ca	37	19	4323106	4323106	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:4323106C>T	ENST00000221856.6	+	11	1310	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	FSD1_ENST00000597590.1_Missense_Mutation_p.A388V|STAP2_ENST00000597593.1_5'Flank	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAAGACGGCCGCCTCCTGG	0.667																																					p.A388V		.											.	.	.	0			c.C1163T						.						41	37	39					19																	4323106		2203	4300	6503	SO:0001583	missense	79187	exon11			AGACGGCCGCCTC	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1163C>T	19.37:g.4323106C>T	ENSP00000221856:p.Ala388Val	35	0		50	4	NM_024333	B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219763	0.39201	.	.	ENSG00000105255	ENST00000221856	T	0.70282	-0.47	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.367242	0.28161	N	0.016375	T	0.67915	0.2944	L	0.60904	1.88	0.09310	N	1	B	0.23540	0.087	B	0.32928	0.155	T	0.63033	-0.6727	10	0.54805	T	0.06	.	10.1564	0.42825	0.1998:0.8002:0.0:0.0	.	388	Q9BTV5	FSD1_HUMAN	V	388	ENSP00000221856:A388V	ENSP00000221856:A388V	A	+	2	0	FSD1	4274106	0.002000	0.14202	0.235000	0.24058	0.939000	0.58152	1.469000	0.35343	2.097000	0.63578	0.485000	0.47835	GCC	.		0.667	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		T	4323106	C	T	4323106	3	4	18	1	0	0	0	0	1	0	0	0	6094	739	26	3	1205	3	FSD1	19	4323106	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09		4323106	54805877	87	2501											
PNPLA6	10908	hgsc.bcm.edu	37	19	7625960	7625960	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:7625960C>T	ENST00000221249.6	+	33	4194	c.3763C>T	c.(3763-3765)Ccc>Tcc	p.P1255S	PNPLA6_ENST00000600737.1_Missense_Mutation_p.P1293S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P1228S|PNPLA6_ENST00000414982.3_Missense_Mutation_p.P1303S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P1255S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1294					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)	p.T1257fs*17(1)		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						CCGGATTGAGCCCCCCACGAG	0.642																																					p.P1303S		.											.,1	.	163	1	Deletion - Frameshift(1)	large_intestine(1)	c.C3907T						.						33	32	32					19																	7625960		2203	4300	6503	SO:0001583	missense	10908	exon32			ATTGAGCCCCCCA	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.3763C>T	19.37:g.7625960C>T	ENSP00000221249:p.Pro1255Ser	31	0		36	2	NM_001166111	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	18.65	3.670156	0.67814	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04156	3.71;3.76;3.69;3.71	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000003	T	0.21103	0.0508	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	1.0;1.0;1.0;0.951	T	0.00282	-1.1850	10	0.72032	D	0.01	-29.4302	15.1627	0.72798	0.0:1.0:0.0:0.0	.	1294;1228;1293;1255	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	S	1255;1228;1303;1255	ENSP00000221249:P1255S;ENSP00000443323:P1228S;ENSP00000407509:P1303S;ENSP00000394348:P1255S	ENSP00000221249:P1255S	P	+	1	0	PNPLA6	7531960	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.304000	0.78882	2.423000	0.82170	0.561000	0.74099	CCC	.		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7625960	C	T	7625960	3	4	18	1	0	0	0	0	1	0	0	0	12208	739	26	3	4029	3	PNPLA6	19	7625960	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	3302854	7625960	51503023	88	2502											
MUC16	94025	hgsc.bcm.edu	37	19	9018540	9018540	+	Missense_Mutation	SNP	A	A	G	rs200155559	byFrequency	TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:9018540A>G	ENST00000397910.4	-	24	37837	c.37634T>C	c.(37633-37635)cTg>cCg	p.L12545P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12547	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						GAGGGTGAACAGCACCAGGAG	0.463													N|||	174	0.0347444	0.1225	0.0144	5008	,	,		16777	0		0.001	False		,,,				2504	0.001				p.L12545P		.											.	.	.	0			c.T37634C						.	A	PRO/LEU	289,3607		11,267,1670	211	180	190		37634	-0.2	0	19	dbSNP_132	190	4,8306		0,4,4151	no	missense	MUC16	NM_024690.2	98	11,271,5821	GG,GA,AA		0.0481,7.4179,2.4005	benign	12545/14508	9018540	293,11913	1948	4155	6103	SO:0001583	missense	94025	exon24			GTGAACAGCACCA	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.37634T>C	19.37:g.9018540A>G	ENSP00000381008:p.Leu12545Pro	68	0		77	6	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.115	-0.402778	0.04865	0.074179	4.81E-4	ENSG00000181143	ENST00000397910	T	0.33438	1.41	2.01	-0.223	0.13118	.	.	.	.	.	T	0.00637	0.0021	N	0.00788	-1.185	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.20174	-1.0283	8	0.87932	D	0	.	4.4182	0.11466	0.3648:0.0:0.6352:0.0	.	12545	B5ME49	.	P	12545	ENSP00000381008:L12545P	ENSP00000381008:L12545P	L	-	2	0	MUC16	8879540	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.227000	0.02950	0.008000	0.14787	-1.232000	0.01568	CTG	.		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9018540	A	G	9018540	3	3	18	1	0	0	0	0	1	0	0	0	10011	188	7	4	6133	4	MUC16	19	9018540	Missense_Mutation	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09	1392580	9018540	50110443	89	2503											
CALR3	125972	hgsc.bcm.edu	37	19	16593513	16593513	+	Silent	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:16593513C>T	ENST00000269881.3	-	6	824	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CTD-3222D19.2_ENST00000409035.1_3'UTR|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	254	3 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TCTGGAGCATCGGCGCTGGCC	0.607																																					p.P254P		.											CALR3,NS,carcinoma,0,1	CALR3	0	0			c.G762A						.						48	48	48					19																	16593513		2203	4300	6503	SO:0001819	synonymous_variant	125972	exon6			GAGCATCGGCGCT	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"cancer/testis antigen 93", "calsperin"	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.762G>A	19.37:g.16593513C>T		36	0		32	2	NM_145046	D9N574|Q96LN3	Silent	SNP	ENST00000269881.3	37	CCDS12344.1																																																																																			.		0.607	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046		T	16593513	C	T	16593513	2	4	18	1	0	0	0	0	0	0	0	1	2600	871	31	1		1	CALR3	19	16593513	Silent	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	7574973	16593513	42535470	90	2504											
KCNN1	3780	broad.mit.edu	37	19	18092607	18092607	+	Silent	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:18092607C>T	ENST00000222249.9	+	5	907	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	196					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)	TGGCAGTGTGCGCCATTCACC	0.677																																					p.C196C													.	KCNN1	74	0			c.C588T						.						25	27	26					19																	18092607		2171	4248	6419	SO:0001819	synonymous_variant	0	exon5			AGTGTGCGCCATT	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.588C>T	19.37:g.18092607C>T		49	1		42	4	NM_002248	Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37																																																																																				.		0.677	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		T	18092607	C	T	18092607	2	4	18	1	0	0	0	0	0	0	0	1	8105	776	27	1		1	KCNN1	19	18092607	Silent	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	1499094	18092607	41036376	91	2505											
GRIN2D	2906	hgsc.bcm.edu	37	19	48925132	48925132	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:48925132G>A	ENST00000263269.3	+	10	2270	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	728					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)	CAACTATCCCGACATGCACAG	0.647																																					p.D728N		.											GRIN2D,NS,carcinoma,0,1	GRIN2D	0	0			c.G2182A						.						98	91	93					19																	48925132		2203	4300	6503	SO:0001583	missense	2906	exon10			TATCCCGACATGC	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.2182G>A	19.37:g.48925132G>A	ENSP00000263269:p.Asp728Asn	16	0		40	2	NM_000836		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853415	0.71719	.	.	ENSG00000105464	ENST00000263269	T	0.26957	1.7	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.113273	0.56097	D	0.000032	T	0.28400	0.0702	L	0.38175	1.15	0.53005	D	0.999962	D	0.54207	0.965	P	0.47044	0.535	T	0.03202	-1.1061	10	0.52906	T	0.07	.	16.6522	0.85219	0.0:0.0:1.0:0.0	.	728	O15399	NMDE4_HUMAN	N	728	ENSP00000263269:D728N	ENSP00000263269:D728N	D	+	1	0	GRIN2D	53616944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.538000	0.85594	0.655000	0.94253	GAC	.		0.647	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			A	48925132	G	A	48925132	3	1	18	1	0	0	0	0	1	0	0	0	6809	1058	37	1	2216	1	GRIN2D	19	48925132	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	30832525	48925132	10203851	92	2506											
SHANK1	50944	ucsc.edu	37	19	51165465	51165465	+	Silent	SNP	C	C	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:51165465C>T	ENST00000293441.1	-	23	6261	c.6243G>A	c.(6241-6243)ctG>ctA	p.L2081L	SHANK1_ENST00000359082.3_Silent_p.L2072L|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391814.1_Silent_p.L2089L|SHANK1_ENST00000391813.1_Silent_p.L1468L|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2081					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)		GCAGCGAGAGCAGGCGGGTCG	0.677																																					p.L2081L													.	SHANK1	210	0			c.G6243A						.						40	40	40					19																	51165465		2203	4300	6503	SO:0001819	synonymous_variant	50944	exon23			CGAGAGCAGGCGG	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.6243G>A	19.37:g.51165465C>T		21	0		36	4	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																			.		0.677	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		T	51165465	C	T	51165465	2	4	18	1	0	0	0	0	0	0	0	1	14309	697	25	3		3	SHANK1	19	51165465	Silent	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	2240333	51165465	7963518	93	2507											
ZNF766	90321	hgsc.bcm.edu;bcgsc.ca	37	19	52793998	52793998	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr19:52793998G>T	ENST00000439461.1	+	4	997	c.954G>T	c.(952-954)tgG>tgT	p.W318C	ZNF766_ENST00000593612.1_Missense_Mutation_p.W333C|ZNF766_ENST00000359102.4_Missense_Mutation_p.W333C|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	318					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(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CACAACATTGGAGAATTCATA	0.378																																					p.W318C		.											.	.	.	0			c.G954T						.						31	34	33					19																	52793998		2125	4271	6396	SO:0001583	missense	90321	exon4			ACATTGGAGAATT	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.954G>T	19.37:g.52793998G>T	ENSP00000409652:p.Trp318Cys	38	0		43	4	NM_001010851	B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	G	5.617	0.298497	0.10622	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.17370	2.28;2.28	2.24	-1.88	0.07713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.12182	0.205	0.09310	N	1	P;P	0.49307	0.904;0.922	B;B	0.32465	0.09;0.146	T	0.27365	-1.0076	9	0.87932	D	0	.	3.2268	0.06735	0.5015:0.0:0.302:0.1965	.	333;318	G3XAE0;Q5HY98	.;ZN766_HUMAN	C	318;333	ENSP00000409652:W318C;ENSP00000352005:W333C	ENSP00000352005:W333C	W	+	3	0	ZNF766	57485810	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.385000	0.02540	-0.538000	0.06281	-0.188000	0.12872	TGG	.		0.378	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		T	52793998	G	T	52793998	3	4	18	1	0	0	0	0	1	0	0	0	18188	1183	41	3	968	3	ZNF766	19	52793998	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	1628533	52793998	6334985	94	2508											
SIRPD	128646	hgsc.bcm.edu	37	20	1532455	1532455	+	Silent	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr20:1532455G>T	ENST00000381623.3	-	2	1492	c.303C>A	c.(301-303)tcC>tcA	p.S101S	SIRPD_ENST00000381621.1_Silent_p.S101S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	101	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GGATGCGGGTGGAAAAGTCTG	0.463																																					p.S101S		.											.	.	.	0			c.C303A						.						164	161	162					20																	1532455		2203	4300	6503	SO:0001819	synonymous_variant	128646	exon2			GCGGGTGGAAAAG	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.303C>A	20.37:g.1532455G>T		66	0		80	4	NM_178460	B3KS88|Q5TFQ6	Silent	SNP	ENST00000381623.3	37	CCDS13018.1																																																																																			.		0.463	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		T	1532455	G	T	1532455	2	4	18	1	0	0	0	0	0	0	0	1	14380	1335	47	3		3	SIRPD	20	1532455	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		1532455	61493065	95	2509											
MCM8	84515	hgsc.bcm.edu;bcgsc.ca	37	20	5948523	5948523	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr20:5948523G>T	ENST00000378896.3	+	10	1452	c.1075G>T	c.(1075-1077)Gca>Tca	p.A359S	MCM8_ENST00000265187.4_Splice_Site|MCM8_ENST00000378883.1_Missense_Mutation_p.A359S|MCM8_ENST00000378886.2_Missense_Mutation_p.A359S	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	359					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						GTATATTGAAGCAAATTCTAT	0.323																																					p.A359S		.											.	.	.	0			c.G1075T						.						83	89	87					20																	5948523		2203	4300	6503	SO:0001583	missense	84515	exon10			ATTGAAGCAAATT	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.1075G>T	20.37:g.5948523G>T	ENSP00000368174:p.Ala359Ser	86	0		75	4	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.945016|3.945016	0.73672|0.73672	.|.	.|.	ENSG00000125885|ENSG00000125885	ENST00000265187|ENST00000378896;ENST00000378883;ENST00000378886	.|T;T;T	.|0.06528	.|3.29;3.29;3.29	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.34774	.|0.0909	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.985;0.999	.|D;P;D	.|0.81914	.|0.995;0.688;0.98	.|T	.|0.25984	.|-1.0116	.|10	.|0.72032	.|D	.|0.01	.|-17.307	19.9525|19.9525	0.97208|0.97208	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|359;359;359	.|Q9UJA3-2;E7EQU7;Q9UJA3	.|.;.;MCM8_HUMAN	.|S	-1|359	.|ENSP00000368174:A359S;ENSP00000368161:A359S;ENSP00000368164:A359S	.|ENSP00000368161:A359S	.|A	+|+	.|1	.|0	MCM8|MCM8	5896523|5896523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.705000|7.705000	0.84606|0.84606	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	.|GCA	.		0.323	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		T	5948523	G	T	5948523	3	4	18	1	0	0	0	0	1	0	0	0	9431	985	34	3	1109	3	MCM8	20	5948523	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	4416068	5948523	57076997	96	2510											
C20orf72	92667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	17956445	17956445	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr20:17956445G>C	ENST00000377710.5	+	3	918	c.630G>C	c.(628-630)caG>caC	p.Q210H	MGME1_ENST00000377709.1_Missense_Mutation_p.Q130H|MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377704.4_Intron	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		AAAGTGTCCAGCATATTCTGA	0.433																																					p.Q210H		.											.	.	.	0			c.G630C						.						111	107	108					20																	17956445		2203	4300	6503	SO:0001583	missense	92667	exon3			TGTCCAGCATATT		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"chromosome 20 open reading frame 72"	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.630G>C	20.37:g.17956445G>C	ENSP00000366939:p.Gln210His	43	0		45	12	NM_052865		Missense_Mutation	SNP	ENST00000377710.5	37	CCDS13131.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452797	0.63290	.	.	ENSG00000125871	ENST00000377710;ENST00000377709	T;T	0.47869	0.83;0.87	5.49	5.49	0.81192	.	0.309656	0.37012	N	0.002286	T	0.61476	0.2350	M	0.75264	2.295	0.80722	D	1	D	0.56287	0.975	P	0.55011	0.766	T	0.64309	-0.6438	10	0.54805	T	0.06	-6.4183	13.1259	0.59354	0.083:0.0:0.917:0.0	.	210	Q9BQP7	CT072_HUMAN	H	210;130	ENSP00000366939:Q210H;ENSP00000366938:Q130H	ENSP00000366938:Q130H	Q	+	3	2	C20orf72	17904445	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.870000	0.39529	2.575000	0.86900	0.655000	0.94253	CAG	.		0.433	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1	NM_052865		C	17956445	G	C	17956445	3	2	18	1	0	0	0	0	1	0	0	0	2125	962	34	5	636	5	C20orf72	20	17956445	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09	12007922	17956445	45069075	97	2511											
PATZ1	23598	hgsc.bcm.edu	37	22	31731753	31731753	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chr22:31731753G>A	ENST00000266269.5	-	3	2061	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478W|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478W|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	478					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)	p.R478W(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TATGCTGCCCGCAAGTACTTC	0.567																																					p.R478W		.											ZNF278,NS,carcinoma,0,1	ZNF278	0	1	Substitution - Missense(1)	ovary(1)	c.C1432T						.						113	102	105					22																	31731753		2203	4300	6503	SO:0001583	missense	23598	exon3			CTGCCCGCAAGTA	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.1432C>T	22.37:g.31731753G>A	ENSP00000266269:p.Arg478Trp	65	0		38	2	NM_032050	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356868	0.82243	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.12039	4.65;2.72;2.72	5.33	3.21	0.36854	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.994	T	0.01753	-1.1281	10	0.59425	D	0.04	-17.0252	13.92	0.63926	0.0:0.0:0.6078:0.3921	.	478;478;478	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	W	478	ENSP00000266269:R478W;ENSP00000384173:R478W;ENSP00000337520:R478W	ENSP00000266269:R478W	R	-	1	2	PATZ1	30061753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.254000	0.32897	0.611000	0.30052	0.563000	0.77884	CGG	.		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		A	31731753	G	A	31731753	3	1	18	1	0	0	0	0	1	0	0	0	11515	1086	38	1	643	1	PATZ1	22	31731753	Missense_Mutation	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		31731753	19572813	98	2512											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)												.	NUDT10	28	8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A						.						52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A		91	1		107	6	NM_153183	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																			.		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51076024	G	A	51076024	2	1	18	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-W5-AA2Z-01A-11D-A417-09		51076024	104194536	99	2513											
COL4A5	1287	broad.mit.edu	37	X	107842054	107842054	+	Silent	SNP	A	A	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chrX:107842054A>G	ENST00000361603.2	+	25	2146	c.1902A>G	c.(1900-1902)aaA>aaG	p.K634K	COL4A5_ENST00000328300.6_Silent_p.K634K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	634	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						TAGGTGAAAAAGGCATACAAG	0.493									Alport syndrome with Diffuse Leiomyomatosis																												p.K634K													.	COL4A5	262	0			c.A1902G						.						73	76	75					X																	107842054		2203	4300	6503	SO:0001819	synonymous_variant	1287	exon25	Familial Cancer Database		TGAAAAAGGCATA	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.1902A>G	X.37:g.107842054A>G		90	1		98	3	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																			.		0.493	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			G	107842054	A	G	107842054	2	3	18	1	0	0	0	0	0	0	0	1	3701	69	3	4		4	COL4A5	23	107842054	Silent	SNP	A	TCGA-W5-AA2Z-01A-11D-A417-09	56766030	107842054	47428506	100	2514											
ARHGAP36	158763	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	130218321	130218321	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2Z-01A-11D-A417-09	TCGA-W5-AA2Z-11A-11D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b68bdaab-f992-4533-be20-4b56b7dc9031	354bfffb-4959-49d7-b276-66342e562181	g.chrX:130218321C>G	ENST00000276211.5	+	5	1033	c.688C>G	c.(688-690)Ccg>Gcg	p.P230A	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P218A|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P94A	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	230	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)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAGTCTCAATCCGATTGCGAA	0.473																																					p.P230A		.											.	.	.	0			c.C688G						.						49	46	47					X																	130218321		2203	4300	6503	SO:0001583	missense	158763	exon5			CTCAATCCGATTG		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.688C>G	X.37:g.130218321C>G	ENSP00000276211:p.Pro230Ala	49	0		44	13	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808827	0.50421	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T;T	0.40476	2.71;2.7;1.03;1.03;1.03	4.99	4.99	0.66335	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.50627	D	0.000113	T	0.58206	0.2106	M	0.62266	1.93	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.52704	-0.8540	10	0.24483	T	0.36	.	12.5345	0.56135	0.0:1.0:0.0:0.0	.	199;218;230	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	A	230;218;182;199;94	ENSP00000276211:P230A;ENSP00000359960:P218A;ENSP00000409218:P182A;ENSP00000408515:P199A;ENSP00000359959:P94A	ENSP00000276211:P230A	P	+	1	0	ARHGAP36	130046002	1.000000	0.71417	0.955000	0.39395	0.138000	0.21146	6.439000	0.73430	2.451000	0.82905	0.529000	0.55759	CCG	.		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		G	130218321	C	G	130218321	3	3	18	1	0	0	0	0	1	0	0	0	883	855	30	5	702	5	ARHGAP36	23	130218321	Missense_Mutation	SNP	C	TCGA-W5-AA2Z-01A-11D-A417-09	22376267	130218321	25052239	101	2515											
PTGER3	5733	broad.mit.edu	37	1	71512790	71512790	+	Silent	SNP	C	C	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:71512790C>G	ENST00000306666.5	-	1	681	c.471G>C	c.(469-471)ctG>ctC	p.L157L	PTGER3_ENST00000356595.4_Silent_p.L157L|PTGER3_ENST00000370924.4_Silent_p.L157L|PTGER3_ENST00000354608.5_Silent_p.L157L|PTGER3_ENST00000460330.1_Silent_p.L157L|PTGER3_ENST00000370932.2_Silent_p.L157L|PTGER3_ENST00000370931.3_Silent_p.L157L|PTGER3_ENST00000351052.5_Silent_p.L157L|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Silent_p.L157L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	157					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)	CCCTGATGGCCAGCGCCCGCT	0.682																																					p.L157L													.	PTGER3	246	0			c.G471C						.						9	11	10					1																	71512790		2185	4270	6455	SO:0001819	synonymous_variant	5733	exon1			GATGGCCAGCGCC	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.471G>C	1.37:g.71512790C>G		32	0		44	6	NM_001126044	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	CCDS657.1																																																																																			.		0.682	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		G	71512790	C	G	71512790	2	3	19	1	0	0	0	0	0	0	0	1	12787	581	21	5		5	PTGER3	1	71512790	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		71512790	177737831	1	2516											
CRYZ	1429	bcgsc.ca	37	1	75172874	75172874	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:75172874C>A	ENST00000340866.5	-	7	732	c.645G>T	c.(643-645)gaG>gaT	p.E215D	CRYZ_ENST00000370871.3_Intron|CRYZ_ENST00000417775.1_Missense_Mutation_p.E215D|CRYZ_ENST00000370872.3_Missense_Mutation_p.E78D|CRYZ_ENST00000492102.1_5'UTR	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	215					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)	CAATTCCTTTCTCACCAACAT	0.289																																					p.E215D													.	CRYZ	28	0			c.G645T						.						59	69	66					1																	75172874		2186	4279	6465	SO:0001583	missense	1429	exon7			TCCTTTCTCACCA		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.645G>T	1.37:g.75172874C>A	ENSP00000339399:p.Glu215Asp	53	0		67	4	NM_001889	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	CCDS665.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066085	0.20067	.	.	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370870	T;T;T;T	0.03831	3.79;3.79;3.79;3.79	5.54	-1.41	0.08941	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.406299	0.28736	N	0.014312	T	0.00967	0.0032	L	0.35593	1.075	0.20821	N	0.999842	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45131	-0.9282	10	0.48119	T	0.1	-11.8392	1.9659	0.03396	0.1143:0.2276:0.339:0.3191	.	78;215	Q5HYE7;Q08257	.;QOR_HUMAN	D	215;78;215;215	ENSP00000339399:E215D;ENSP00000359909:E78D;ENSP00000399805:E215D;ENSP00000359907:E215D	ENSP00000339399:E215D	E	-	3	2	CRYZ	74945462	0.417000	0.25432	0.982000	0.44146	0.907000	0.53573	-0.763000	0.04740	-0.428000	0.07339	0.591000	0.81541	GAG	.		0.289	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			A	75172874	C	A	75172874	3	1	19	1	0	0	0	0	1	0	0	0	3929	912	32	3	356	3	CRYZ	1	75172874	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	3660084	75172874	174077747	2	2517											
ST6GALNAC3	256435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	76540564	76540564	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:76540564C>G	ENST00000328299.3	+	1	161	c.13C>G	c.(13-15)Ctg>Gtg	p.L5V		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	5					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						GGCCTGCATCCTGAAGGTAAC	0.697																																					p.L5V		.											.	.	.	0			c.C13G						.						48	41	43					1																	76540564		2200	4296	6496	SO:0001583	missense	256435	exon1			TGCATCCTGAAGG		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.13C>G	1.37:g.76540564C>G	ENSP00000329214:p.Leu5Val	49	0		44	7	NM_001160011	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643988	0.67244	.	.	ENSG00000184005	ENST00000394994;ENST00000328299	T	0.31510	1.49	4.91	3.98	0.46160	.	0.608005	0.16500	N	0.211681	T	0.23014	0.0556	N	0.24115	0.695	0.26966	N	0.965702	P;P;B	0.46578	0.574;0.88;0.011	B;P;B	0.62184	0.123;0.899;0.057	T	0.08106	-1.0738	10	0.52906	T	0.07	-26.1666	11.0102	0.47659	0.1858:0.8142:0.0:0.0	.	5;5;5	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	V	5	ENSP00000329214:L5V	ENSP00000329214:L5V	L	+	1	2	ST6GALNAC3	76313152	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.949000	0.29109	1.184000	0.42957	0.561000	0.74099	CTG	.		0.697	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		G	76540564	C	G	76540564	3	3	19	1	0	0	0	0	1	0	0	0	15272	680	24	5	15	5	ST6GALNAC3	1	76540564	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	1367690	76540564	172710057	3	2518											
OLFM3	118427	hgsc.bcm.edu	37	1	102269877	102269877	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:102269877C>T	ENST00000338858.5	-	6	1353	c.1354G>A	c.(1354-1356)Gct>Act	p.A452T	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.A432T			Q96PB7	NOE3_HUMAN	olfactomedin 3	452	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)		p.A432T(1)|p.A452T(1)		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)		GCATAGAGAGCTCGATCTCTT	0.428																																					p.A432T		.											OLFM3_ENST00000338858,caecum,carcinoma,0,2	OLFM3_ENST00000338858	0	2	Substitution - Missense(2)	large_intestine(2)	c.G1294A						.						204	190	195					1																	102269877		2203	4300	6503	SO:0001583	missense	118427	exon6			AGAGAGCTCGATC	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.1354G>A	1.37:g.102269877C>T	ENSP00000345192:p.Ala452Thr	36	0		24	2	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.564098	0.86335	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.89552	-2.53;-2.53	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	M	0.80982	2.52	0.80722	D	1	P;D	0.69078	0.624;0.997	B;D	0.80764	0.3;0.994	D	0.93640	0.6964	10	0.54805	T	0.06	.	19.9831	0.97336	0.0:1.0:0.0:0.0	.	432;452	Q5T3V6;Q96PB7	.;NOE3_HUMAN	T	432;452	ENSP00000359121:A432T;ENSP00000345192:A452T	ENSP00000345192:A452T	A	-	1	0	OLFM3	102042465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.728000	0.93425	0.650000	0.86243	GCT	.		0.428	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			T	102269877	C	T	102269877	3	4	19	1	0	0	0	0	1	0	0	0	10893	797	28	3	86	3	OLFM3	1	102269877	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	25729313	102269877	146980744	4	2519											
PRPF38B	55119	hgsc.bcm.edu	37	1	109238706	109238706	+	Silent	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:109238706T>C	ENST00000370025.4	+	3	656	c.387T>C	c.(385-387)ttT>ttC	p.F129F	PRPF38B_ENST00000370021.1_Silent_p.F18F|PRPF38B_ENST00000370022.5_Silent_p.F129F|PRPF38B_ENST00000467302.1_3'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	129					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CTACAGCATTTTGCCTGTTAT	0.368																																					p.F129F		.											PRPF38B,NS,carcinoma,0,1	PRPF38B	0	0			c.T387C						.						126	123	124					1																	109238706		2203	4300	6503	SO:0001819	synonymous_variant	55119	exon3			AGCATTTTGCCTG	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.387T>C	1.37:g.109238706T>C		47	0		46	2	NM_018061	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	37	CCDS788.1																																																																																			.		0.368	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		C	109238706	T	C	109238706	2	2	19	1	0	0	0	0	0	0	0	1	12610	1838	64	4		4	PRPF38B	1	109238706	Silent	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	6968829	109238706	140011915	5	2520											
PHTF1	10745	hgsc.bcm.edu	37	1	114247312	114247312	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:114247312C>A	ENST00000369604.1	-	14	2262	c.1779G>T	c.(1777-1779)tgG>tgT	p.W593C	PHTF1_ENST00000357783.2_Missense_Mutation_p.W593C|PHTF1_ENST00000369600.1_Missense_Mutation_p.W540C|PHTF1_ENST00000393357.2_Missense_Mutation_p.W593C|PHTF1_ENST00000369598.1_Missense_Mutation_p.W548C|PHTF1_ENST00000369596.2_Missense_Mutation_p.W540C|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	593					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W593*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	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)		GCAGTGATAACCATATTTTAA	0.358																																					p.W593C		.											PHTF1,colon,carcinoma,0,1	PHTF1	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1779T						.						81	86	84					1																	114247312		2203	4300	6503	SO:0001583	missense	10745	exon13			TGATAACCATATT	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1779G>T	1.37:g.114247312C>A	ENSP00000358617:p.Trp593Cys	48	0		49	2	NM_006608	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443682	0.83993	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79125	-0.1932	9	0.87932	D	0	-11.0138	19.6271	0.95682	0.0:1.0:0.0:0.0	.	593;593	Q9UMS5;Q9UMS5-2	PHTF1_HUMAN;.	C	548;593;540;548;540;593;593	.	ENSP00000350428:W593C	W	-	3	0	PHTF1	114048835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.645000	0.89757	0.591000	0.81541	TGG	.		0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		A	114247312	C	A	114247312	3	1	19	1	0	0	0	0	1	0	0	0	11901	508	18	3	533	3	PHTF1	1	114247312	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	5008606	114247312	135003309	6	2521											
BCAN	63827	hgsc.bcm.edu	37	1	156616887	156616887	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:156616887C>G	ENST00000329117.5	+	3	722	c.386C>G	c.(385-387)cCc>cGc	p.P129R	RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P129R	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	129	Ig-like V-type.				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)					GAGCTGCGCCCCAACGACTCA	0.642																																					p.P129R		.											BCAN,NS,carcinoma,0,1	BCAN	0	0			c.C386G						.						46	33	38					1																	156616887		2203	4300	6503	SO:0001583	missense	63827	exon3			TGCGCCCCAACGA	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.386C>G	1.37:g.156616887C>G	ENSP00000331210:p.Pro129Arg	19	0		37	2	NM_198427	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872647	0.51695	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000361588	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.61	4.61	0.57282	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.092642	0.43579	D	0.000554	T	0.31199	0.0789	N	0.08118	0	0.34112	D	0.663154	B;B	0.20368	0.044;0.028	B;B	0.27076	0.076;0.039	T	0.34378	-0.9831	10	0.56958	D	0.05	-8.3629	16.1664	0.81759	0.0:1.0:0.0:0.0	.	129;129	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	R	129	ENSP00000392731:P129R;ENSP00000331210:P129R;ENSP00000389898:P129R;ENSP00000354925:P129R	ENSP00000255029:P129R	P	+	2	0	BCAN	154883511	0.846000	0.29590	1.000000	0.80357	0.948000	0.59901	1.955000	0.40372	2.379000	0.81126	0.455000	0.32223	CCC	.		0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156616887	C	G	156616887	3	3	19	1	0	0	0	0	1	0	0	0	1346	623	22	5	392	5	BCAN	1	156616887	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	42369575	156616887	92633734	7	2522											
DDR2	4921	hgsc.bcm.edu	37	1	162737043	162737043	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:162737043G>A	ENST00000367922.3	+	12	1625	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	DDR2_ENST00000367921.3_Missense_Mutation_p.S396N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	396					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)	GTTGATGACAGCAACACTCGG	0.468																																					p.S396N	NSCLC(161;314 2006 8283 19651 23192)	.											DDR2_ENST00000367922,NS,carcinoma,0,2	DDR2_ENST00000367922	0	0			c.G1187A						.						257	233	241					1																	162737043		2203	4300	6503	SO:0001583	missense	4921	exon12			ATGACAGCAACAC	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.1187G>A	1.37:g.162737043G>A	ENSP00000356899:p.Ser396Asn	23	0		43	2	NM_001014796	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718081	0.89205	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	D;D;T	0.84800	-1.9;-1.9;0.78	5.26	5.26	0.73747	.	0.074661	0.85682	D	0.000000	T	0.76962	0.4061	L	0.52126	1.63	0.35513	D	0.800835	B	0.12013	0.005	B	0.12156	0.007	T	0.74902	-0.3506	9	0.56958	D	0.05	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	396	Q16832	DDR2_HUMAN	N	396;396;6	ENSP00000356899:S396N;ENSP00000356898:S396N;ENSP00000417030:S6N	ENSP00000356898:S396N	S	+	2	0	DDR2	161003667	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.083000	0.94067	2.733000	0.93635	0.655000	0.94253	AGC	.		0.468	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		A	162737043	G	A	162737043	3	1	19	1	0	0	0	0	1	0	0	0	4346	971	34	3	1221	3	DDR2	1	162737043	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	6120156	162737043	86513578	8	2523											
LRRC52	440699	hgsc.bcm.edu;broad.mit.edu	37	1	165513993	165513993	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:165513993T>C	ENST00000294818.1	+	1	750	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	154					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)					CTCTTTGAGGTACCTGGACCT	0.522																																					p.Y154H		.											.	.	.	0			c.T460C						.						187	180	182					1																	165513993		2203	4300	6503	SO:0001583	missense	440699	exon1			TTGAGGTACCTGG	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.460T>C	1.37:g.165513993T>C	ENSP00000294818:p.Tyr154His	43	0		78	4	NM_001005214	A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653688	0.29425	.	.	ENSG00000162763	ENST00000294818	T	0.02472	4.28	5.39	-0.641	0.11490	.	0.466234	0.24678	N	0.036492	T	0.00468	0.0015	N	0.05280	-0.08	0.31975	N	0.606582	B	0.06786	0.001	B	0.15052	0.012	T	0.43798	-0.9369	9	0.15499	T	0.54	.	9.3571	0.38173	0.0:0.5141:0.0:0.4859	.	154	Q8N7C0	LRC52_HUMAN	H	154	ENSP00000294818:Y154H	ENSP00000294818:Y154H	Y	+	1	0	LRRC52	163780617	1.000000	0.71417	0.153000	0.22517	0.985000	0.73830	0.525000	0.22956	0.065000	0.16485	0.460000	0.39030	TAC	.		0.522	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		C	165513993	T	C	165513993	3	2	19	1	0	0	0	0	1	0	0	0	9045	1638	57	4	462	4	LRRC52	1	165513993	Missense_Mutation	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	2776950	165513993	83736628	9	2524											
ADCY10	55811	broad.mit.edu	37	1	167873153	167873153	+	Silent	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:167873153G>T	ENST00000367851.4	-	3	409	c.225C>A	c.(223-225)ctC>ctA	p.L75L	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	75	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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						TGTGGTAGTTGAGGATCTCCA	0.413																																					p.L75L													ADCY10,NS,carcinoma,-1,1	ADCY10	175	0			c.C225A						.						163	145	151					1																	167873153		2203	4300	6503	SO:0001819	synonymous_variant	55811	exon3			GTAGTTGAGGATC	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.225C>A	1.37:g.167873153G>T		40	0		87	3	NM_018417	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	CCDS1265.1																																																																																			.		0.413	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		T	167873153	G	T	167873153	2	4	19	1	0	0	0	0	0	0	0	1	293	1277	45	3		3	ADCY10	1	167873153	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	2359160	167873153	81377468	10	2525											
C1orf129	80133	hgsc.bcm.edu	37	1	170934396	170934396	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:170934396C>T	ENST00000367758.3	+	7	579	c.480C>T	c.(478-480)taC>taT	p.Y160Y	MROH9_ENST00000367759.4_Splice_Site_p.Y160Y	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	160			Y -> H (in dbSNP:rs16863872).					p.Y160Y(2)									TCAGAAAATACGTAAGTCACA	0.398																																					p.Y160Y		.											C1orf129_ENST00000367759,NS,carcinoma,0,2	C1orf129_ENST00000367759	0	2	Substitution - coding silent(2)	kidney(2)	c.C480T						.						117	110	112					1																	170934396		1911	4131	6042	SO:0001630	splice_region_variant	80133	exon7			AAAATACGTAAGT	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.480+1C>T	1.37:g.170934396C>T		39	0		68	3	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	CCDS41436.1																																																																																			.		0.398	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	Silent	T	170934396	C	T	170934396	5	4	19	1	0	0	0	0	0	0	1	0	2003	550	19	1	502	1	C1orf129	1	170934396	Splice_Site	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	3061243	170934396	78316225	11	2526											
KLHL20	27252	broad.mit.edu	37	1	173722361	173722361	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:173722361C>T	ENST00000209884.4	+	5	902	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	KLHL20_ENST00000546011.1_Missense_Mutation_p.H67Y	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	256	BACK.				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						GGTGCTGCAGCATGTTCGTTT	0.433																																					p.H256Y	GBM(159;862 2695 6559 23041)												.	KLHL20	54	0			c.C766T						.						83	79	80					1																	173722361		2203	4300	6503	SO:0001583	missense	27252	exon5			CTGCAGCATGTTC	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.766C>T	1.37:g.173722361C>T	ENSP00000209884:p.His256Tyr	26	0		43	4	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745909	0.49151	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.68903	-0.36;-0.36	6.08	6.08	0.98989	BTB/Kelch-associated (2);	0.045499	0.85682	D	0.000000	T	0.73273	0.3566	L	0.47190	1.495	0.80722	D	1	D;P	0.89917	1.0;0.721	D;P	0.97110	1.0;0.601	T	0.67268	-0.5713	10	0.33141	T	0.24	.	19.4349	0.94788	0.0:1.0:0.0:0.0	.	67;256	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	Y	67;256	ENSP00000443121:H67Y;ENSP00000209884:H256Y	ENSP00000209884:H256Y	H	+	1	0	KLHL20	171988984	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	7.476000	0.81055	2.894000	0.99253	0.655000	0.94253	CAT	.		0.433	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		T	173722361	C	T	173722361	3	4	19	1	0	0	0	0	1	0	0	0	8402	710	25	3	780	3	KLHL20	1	173722361	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	2787965	173722361	75528260	12	2527											
CACNA1E	777	hgsc.bcm.edu	37	1	181727219	181727219	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:181727219C>T	ENST00000367573.2	+	31	4466	c.4466C>T	c.(4465-4467)gCc>gTc	p.A1489V	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1096V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A1470V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1489V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1470V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1440V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1421V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1489					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						GCCATGATCGCCTTGAATACT	0.557																																					p.A1489V		.											CACNA1E_ENST00000367573,colon,carcinoma,0,2	CACNA1E_ENST00000367573	0	0			c.C4466T						.						105	106	105					1																	181727219		2124	4242	6366	SO:0001583	missense	777	exon31			TGATCGCCTTGAA	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.4466C>T	1.37:g.181727219C>T	ENSP00000356545:p.Ala1489Val	28	0		34	2	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747157	0.89663	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	L	0.33339	1.005	0.80722	D	1	B;B;D	0.71674	0.372;0.114;0.998	P;B;D	0.80764	0.501;0.417;0.994	D	0.96750	0.9553	10	0.32370	T	0.25	.	18.5085	0.90907	0.0:1.0:0.0:0.0	.	1470;1489;1489	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	V	1489;1470;1440;1421;1096;1470;1489	ENSP00000356542:A1489V;ENSP00000434814:A1470V;ENSP00000350183:A1440V;ENSP00000351101:A1421V;ENSP00000356539:A1096V;ENSP00000353222:A1470V;ENSP00000356545:A1489V	ENSP00000350183:A1440V	A	+	2	0	CACNA1E	179993842	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.711000	0.84669	2.465000	0.83290	0.655000	0.94253	GCC	.		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181727219	C	T	181727219	3	4	19	1	0	0	0	0	1	0	0	0	2549	739	26	3	4588	3	CACNA1E	1	181727219	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	8004858	181727219	67523402	13	2528											
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	181767937	181767937	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:181767937G>A	ENST00000367573.2	+	48	6909	c.6909G>A	c.(6907-6909)ctG>ctA	p.L2303L	CACNA1E_ENST00000367567.4_Silent_p.L1867L|CACNA1E_ENST00000526775.1_Silent_p.L2241L|CACNA1E_ENST00000367570.1_Silent_p.L2260L|CACNA1E_ENST00000360108.3_Silent_p.L2284L|CACNA1E_ENST00000357570.5_Silent_p.L2254L|CACNA1E_ENST00000358338.5_Silent_p.L2192L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2303					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						TCAACAACCTGCTAAGTGACA	0.597																																					p.L2303L		.											.	.	.	0			c.G6909A						.						22	26	25					1																	181767937		2027	4169	6196	SO:0001819	synonymous_variant	777	exon48			CAACCTGCTAAGT	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.6909G>A	1.37:g.181767937G>A		33	0		67	7	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.597	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181767937	G	A	181767937	2	1	19	1	0	0	0	0	0	0	0	1	2549	1306	46	3		3	CACNA1E	1	181767937	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	40718	181767937	67482684	14	2529											
DHX9	1660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	182846025	182846025	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:182846025A>G	ENST00000367549.3	+	19	2295	c.2185A>G	c.(2185-2187)Att>Gtt	p.I729V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	729	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						TGTTTATGTCATTGACTCCTG	0.333																																					p.I729V	Colon(69;210 1162 3697 13559 39565)	.											.	.	.	0			c.A2185G						.						70	63	65					1																	182846025		1839	4103	5942	SO:0001583	missense	1660	exon19			TATGTCATTGACT	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.2185A>G	1.37:g.182846025A>G	ENSP00000356520:p.Ile729Val	31	0		89	36	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720701	0.48728	.	.	ENSG00000135829	ENST00000367549	T	0.80653	-1.4	5.91	3.45	0.39498	Helicase, C-terminal (3);	0.106722	0.64402	D	0.000012	T	0.75664	0.3880	L	0.45228	1.405	0.45930	D	0.998766	B	0.21753	0.06	B	0.36766	0.232	T	0.73020	-0.4114	10	0.44086	T	0.13	.	8.7036	0.34340	0.7932:0.132:0.0748:0.0	.	729	Q08211	DHX9_HUMAN	V	729	ENSP00000356520:I729V	ENSP00000356520:I729V	I	+	1	0	DHX9	181112648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.645000	0.54389	2.263000	0.75096	0.528000	0.53228	ATT	.		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		G	182846025	A	G	182846025	3	3	19	1	0	0	0	0	1	0	0	0	4530	217	8	4	2255	4	DHX9	1	182846025	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	1078088	182846025	66404596	15	2530											
KCNT2	343450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	196295911	196295911	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:196295911G>A	ENST00000294725.9	-	19	3127	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	KCNT2_ENST00000367433.5_Missense_Mutation_p.P738S|KCNT2_ENST00000367431.4_Missense_Mutation_p.P688S|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000451324.2_Missense_Mutation_p.P349S|KCNT2_ENST00000609185.1_Missense_Mutation_p.P688S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	738					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						GCCCTGAGAGGAACAATAAAG	0.318																																					p.P738S		.											.	.	.	0			c.C2212T						.						79	82	81					1																	196295911		2203	4294	6497	SO:0001583	missense	343450	exon19			TGAGAGGAACAAT	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.2212C>T	1.37:g.196295911G>A	ENSP00000294725:p.Pro738Ser	53	0		127	19	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484894	0.84854	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000451324;ENST00000294725	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000011	D	0.89259	0.6664	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	0.986;1.0;1.0;1.0;0.986	D;D;D;D;D	0.97110	0.975;1.0;1.0;1.0;0.975	D	0.89443	0.3725	10	0.51188	T	0.08	-16.876	19.2671	0.93993	0.0:0.0:1.0:0.0	.	738;720;738;688;738	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	738;688;349;738	ENSP00000356403:P738S;ENSP00000356401:P688S;ENSP00000405474:P349S;ENSP00000294725:P738S	ENSP00000294725:P738S	P	-	1	0	KCNT2	194562534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.608000	0.88229	0.650000	0.86243	CCT	.		0.318	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		A	196295911	G	A	196295911	3	1	19	1	0	0	0	0	1	0	0	0	8119	1174	41	3	1235	3	KCNT2	1	196295911	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	13449886	196295911	52954710	16	2531											
ELF3	1999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	201984393	201984393	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:201984393A>C	ENST00000359651.3	+	8	4250	c.1058A>C	c.(1057-1059)aAg>aCg	p.K353T	ELF3_ENST00000367283.3_Missense_Mutation_p.K353T|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.K353T					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTCGTCTACAAGTTTGGCAAA	0.542																																					p.K353T		.											.	.	.	0			c.A1058C						.						83	84	84					1																	201984393		2203	4300	6503	SO:0001583	missense	1999	exon9			TCTACAAGTTTGG	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1058A>C	1.37:g.201984393A>C	ENSP00000352673:p.Lys353Thr	56	0		117	25	NM_001114309		Missense_Mutation	SNP	ENST00000359651.3	37	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727343	0.89390	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.17370	2.28;2.28;2.28	4.61	4.61	0.57282	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52852	-0.8520	10	0.87932	D	0	.	13.1767	0.59630	1.0:0.0:0.0:0.0	.	353	P78545	ELF3_HUMAN	T	353;353;353;330	ENSP00000352673:K353T;ENSP00000356253:K353T;ENSP00000356252:K353T	ENSP00000311348:K330T	K	+	2	0	ELF3	200251016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.101000	0.94219	1.961000	0.56991	0.454000	0.30748	AAG	.		0.542	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		C	201984393	A	C	201984393	3	2	19	1	0	0	0	0	1	0	0	0	5071	72	3	4	1088	4	ELF3	1	201984393	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	5688482	201984393	47266228	17	2532											
LAX1	54900	broad.mit.edu	37	1	203743058	203743058	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:203743058A>G	ENST00000442561.2	+	5	836	c.446A>G	c.(445-447)gAg>gGg	p.E149G	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.E133G	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	149					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)			CATGCCACAGAGTACGCGGTG	0.542																																					p.E149G													.	LAX1	48	0			c.A446G						.						81	74	76					1																	203743058		2203	4300	6503	SO:0001583	missense	54900	exon5			CCACAGAGTACGC	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.446A>G	1.37:g.203743058A>G	ENSP00000406970:p.Glu149Gly	12	0		13	3	NM_017773	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	A	3.709	-0.059872	0.07317	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.34	2.18	0.27775	.	0.763950	0.11948	N	0.513966	T	0.13586	0.0329	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29212	-1.0019	9	0.17832	T	0.49	-8.5359	4.007	0.09605	0.2397:0.1942:0.5661:0.0	.	133;149	B7Z744;Q8IWV1	.;LAX1_HUMAN	G	149;133	.	ENSP00000356186:E133G	E	+	2	0	LAX1	202009681	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.081000	0.11321	0.538000	0.28769	0.533000	0.62120	GAG	.		0.542	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		G	203743058	A	G	203743058	3	3	19	1	0	0	0	0	1	0	0	0	8676	304	11	4	509	4	LAX1	1	203743058	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	1758665	203743058	45507563	18	2533											
KCTD3	51133	hgsc.bcm.edu	37	1	215753330	215753330	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:215753330C>T	ENST00000259154.4	+	8	908	c.614C>T	c.(613-615)gCt>gTt	p.A205V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	205					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)		GCCCATTTTGCTGTGTGTTAC	0.343																																					p.A205V		.											.	.	.	0			c.C614T						.						141	138	139					1																	215753330		2203	4300	6503	SO:0001583	missense	51133	exon8			ATTTTGCTGTGTG	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.614C>T	1.37:g.215753330C>T	ENSP00000259154:p.Ala205Val	60	0		88	3	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	5.235	0.228922	0.09916	.	.	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.27104	1.69	5.54	4.63	0.57726	.	0.054665	0.64402	D	0.000001	T	0.04227	0.0117	N	0.00088	-2.19	0.34001	D	0.650241	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.0	T	0.25363	-1.0134	10	0.02654	T	1	-24.9174	9.4847	0.38922	0.0:0.8373:0.0:0.1627	.	205;205	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	V	205	ENSP00000259154:A205V	ENSP00000259154:A205V	A	+	2	0	KCTD3	213819953	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.592000	0.67543	1.330000	0.45394	0.563000	0.77884	GCT	.		0.343	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		T	215753330	C	T	215753330	3	4	19	1	0	0	0	0	1	0	0	0	8137	797	28	3	644	3	KCTD3	1	215753330	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	12010272	215753330	33497291	19	2534											
ACBD3	64746	broad.mit.edu	37	1	226349273	226349296	+	In_Frame_Del	DEL	CCTTTCCTCTTCCTCCCGTCGAAG	CCTTTCCTCTTCCTCCCGTCGAAG	-	rs374978330|rs371678655|rs77727776|rs78919255		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:226349273_226349296delCCTTTCCTCTTCCTCCCGTCGAAG	ENST00000366812.5	-	4	718_741	c.664_687delCTTCGACGGGAGGAAGAGGAAAGG	c.(664-687)cttcgacgggaggaagaggaaaggdel	p.LRREEEER222del	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	222	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.R224L(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ctatccgtctcctttcctcttcctcccgtcgaagcctttcctct	0.424																																					p.222_229del													.	ACBD3	38	2	Substitution - Missense(2)	lung(2)	c.664_687del						.																																			SO:0001651	inframe_deletion	64746	exon4			CCGTCTCCTTTCC	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.664_687delCTTCGACGGGAGGAAGAGGAAAGG	1.37:g.226349273_226349296delCCTTTCCTCTTCCTCCCGTCGAAG	ENSP00000355777:p.Leu222_Arg229del	51	0		55	6	NM_022735	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	In_Frame_Del	DEL	ENST00000366812.5	37	CCDS1551.1																																																																																			.		0.424	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		-	226349296	CCTTTCCTCTTCCTCCCGTCGAAG	-	226349273	7	5	19	1	0	1	0	1	0	0	0	0	123	854	30	0	919	0	ACBD3	1	226349273	In_Frame_Del	DEL	CCTTTCCTCTTCCTCCCGTCGAAG	TCGA-W5-AA30-01A-31D-A417-09	10595943	226349273	22901348	20	2535											
JMJD4	65094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	227922428	227922428	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:227922428A>G	ENST00000366758.3	-	2	489	c.490T>C	c.(490-492)Tac>Cac	p.Y164H	SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000438896.2_Missense_Mutation_p.Y164H|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	164										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TCTTTCCAGTAGGTGATGTAG	0.522																																					p.Y164H		.											.	.	.	0			c.T490C						.						259	211	227					1																	227922428		2203	4300	6503	SO:0001583	missense	65094	exon2			TCCAGTAGGTGAT	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.490T>C	1.37:g.227922428A>G	ENSP00000355720:p.Tyr164His	25	0		29	7	NM_023007	Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	.	15.26	2.779456	0.49891	.	.	ENSG00000081692	ENST00000366758	T	0.55588	0.51	4.55	3.41	0.39046	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.78344	2.41	0.44123	D	0.996905	B;B	0.12630	0.005;0.006	B;B	0.17979	0.012;0.02	T	0.57394	-0.7819	10	0.66056	D	0.02	-46.2879	7.8015	0.29176	0.8993:0.0:0.1007:0.0	.	164;164	Q9H9V9-2;Q9H9V9	.;JMJD4_HUMAN	H	164	ENSP00000355720:Y164H	ENSP00000355720:Y164H	Y	-	1	0	JMJD4	225989051	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.742000	0.74843	1.811000	0.52892	0.454000	0.30748	TAC	.		0.522	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		G	227922428	A	G	227922428	3	3	19	1	0	0	0	0	1	0	0	0	7978	420	15	4	921	4	JMJD4	1	227922428	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	1573155	227922428	21328193	21	2536											
TBCE	6905	broad.mit.edu	37	1	235602123	235602123	+	Silent	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:235602123C>A	ENST00000366601.3	+	13	1332	c.1156C>A	c.(1156-1158)Cga>Aga	p.R386R	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.R386R|TBCE_ENST00000543662.1_Silent_p.R437R			Q15813	TBCE_HUMAN	tubulin folding cofactor E	386					'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)			GCTTGACTACCGAAAAGCTTT	0.448																																					p.R386R													TBCE,NS,carcinoma,-1,3	TBCE	40	0			c.C1156A						.						103	102	102					1																	235602123		2203	4300	6503	SO:0001819	synonymous_variant	6905	exon13			GACTACCGAAAAG	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.1156C>A	1.37:g.235602123C>A		43	0		77	3	NM_003193	A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	CCDS1605.1																																																																																			.		0.448	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		A	235602123	C	A	235602123	2	1	19	1	0	0	0	0	0	0	0	1	15681	644	23	2		2	TBCE	1	235602123	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	7679695	235602123	13648498	22	2537											
SCCPDH	51097	hgsc.bcm.edu	37	1	246929442	246929442	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:246929442G>A	ENST00000366510.3	+	11	1560		c.e11+1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)							lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TGCCTAAGGCGTAAGTTTGGT	0.388																																					.		.											.	.	.	0			c.1184+1G>A						.						171	180	177					1																	246929442		2203	4300	6503	SO:0001630	splice_region_variant	51097	exon11			TAAGGCGTAAGTT		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.1184+1G>A	1.37:g.246929442G>A		46	0		61	4	NM_016002	Q8TAR0|Q9Y363	Splice_Site	SNP	ENST00000366510.3	37	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136778	0.77662	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4085	0.90542	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCCPDH	244996065	1.000000	0.71417	0.960000	0.40013	0.772000	0.43724	8.461000	0.90372	2.778000	0.95560	0.655000	0.94253	.	.		0.388	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002	Intron	A	246929442	G	A	246929442	5	1	19	1	0	0	0	0	0	0	1	0	13930	1159	40	1	1227	1	SCCPDH	1	246929442	Splice_Site	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	11327319	246929442	2321179	23	2538											
OR2L8	391190	hgsc.bcm.edu	37	1	248112794	248112794	+	Missense_Mutation	SNP	G	G	C	rs200574966		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr1:248112794G>C	ENST00000357191.3	+	1	635	c.635G>C	c.(634-636)gGt>gCt	p.G212A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G212A(2)		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)			CCCTTCATTGGTATTTCATGT	0.498																																					p.G212A		.											OR2L8,NS,carcinoma,0,2	OR2L8	0	2	Substitution - Missense(2)	prostate(1)|skin(1)	c.G635C						.						176	87	117					1																	248112794		2203	4300	6503	SO:0001583	missense	391190	exon1			TCATTGGTATTTC	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.635G>C	1.37:g.248112794G>C	ENSP00000349719:p.Gly212Ala	62	1		86	5	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.747988	0.00669	.	.	ENSG00000196936	ENST00000357191	T	0.35973	1.28	1.8	-3.61	0.04556	GPCR, rhodopsin-like superfamily (1);	0.592578	0.12695	U	0.446818	T	0.14657	0.0354	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.11817	-1.0572	10	0.46703	T	0.11	.	5.6462	0.17590	0.0:0.2703:0.1902:0.5394	.	212	Q8NGY9	OR2L8_HUMAN	A	212	ENSP00000349719:G212A	ENSP00000349719:G212A	G	+	2	0	OR2L8	246179417	0.000000	0.05858	0.006000	0.13384	0.165000	0.22458	-1.473000	0.02339	-1.273000	0.02424	-0.515000	0.04445	GGT	.		0.498	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			C	248112794	G	C	248112794	3	2	19	1	0	0	0	0	1	0	0	0	11048	1261	44	5	637	5	OR2L8	1	248112794	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	1183352	248112794	1137827	24	2539											
APOB	338	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	21225533	21225533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:21225533delG	ENST00000233242.1	-	29	12888	c.12761delC	c.(12760-12762)cctfs	p.P4254fs	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4254					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)					TAACTCGAAAGGAAGTGTAAT	0.368																																					p.P4254fs		.											.	.	.	0			c.12762delT						.						113	122	119					2																	21225533		2203	4300	6503	SO:0001589	frameshift_variant	338	exon29			TCGAAAGGAAGTG	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.12761delC	2.37:g.21225533delG	ENSP00000233242:p.Pro4254fs	45	0		52	12	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	CCDS1703.1																																																																																			.		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			-	21225533	G	-	21225533	7	5	19	1	0	1	0	1	0	0	0	0	785	1000	35	0	934	0	APOB	2	21225533	Frame_Shift_Del	DEL	G	TCGA-W5-AA30-01A-31D-A417-09		21225533	221973840	25	2540											
OTOF	9381	hgsc.bcm.edu;ucsc.edu	37	2	26712145	26712145	+	Missense_Mutation	SNP	G	G	T	rs146051471		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:26712145G>T	ENST00000272371.2	-	11	1105	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	OTOF_ENST00000403946.3_Missense_Mutation_p.L327M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	327	C2 1. {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)			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)					CTGCGCAGCAGGTTCTTGGAG	0.612																																					p.L327M	GBM(102;732 1451 20652 24062 31372)	.											.	.	.	0			c.C979A						.						58	48	51					2																	26712145		2203	4300	6503	SO:0001583	missense	9381	exon11			GCAGCAGGTTCTT	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.979C>A	2.37:g.26712145G>T	ENSP00000272371:p.Leu327Met	14	0		16	4	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817514	0.70912	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.73047	-0.71;-0.71	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.127524	0.53938	D	0.000045	T	0.77751	0.4177	L	0.48877	1.53	0.47065	D	0.999305	P	0.42483	0.781	P	0.54965	0.765	T	0.77256	-0.2655	10	0.49607	T	0.09	-6.8896	17.7299	0.88374	0.0:0.0:1.0:0.0	.	327	Q9HC10	OTOF_HUMAN	M	327	ENSP00000272371:L327M;ENSP00000385255:L327M	ENSP00000272371:L327M	L	-	1	2	OTOF	26565649	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	5.701000	0.68325	2.555000	0.86185	0.456000	0.33151	CTG	.		0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26712145	G	T	26712145	3	4	19	1	0	0	0	0	1	0	0	0	11342	991	35	3	5487	3	OTOF	2	26712145	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5486612	26712145	216487228	26	2541											
PPP1CB	5500	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	29006824	29006824	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:29006824C>T	ENST00000395366.2	+	5	844	c.572C>T	c.(571-573)cCt>cTt	p.P191L	PPP1CB_ENST00000358506.2_Missense_Mutation_p.P191L|PPP1CB_ENST00000296122.6_Missense_Mutation_p.P191L|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	191					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|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)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTATGAGACCTACTGATGTC	0.328																																					p.P191L		.											.	.	.	0			c.C572T						.						136	144	141					2																	29006824		2203	4300	6503	SO:0001583	missense	5500	exon6			TGAGACCTACTGA		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9282	protein-coding gene	gene with protein product		600590	"protein phosphatase 1, catalytic subunit, beta isoform"			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.572C>T	2.37:g.29006824C>T	ENSP00000378769:p.Pro191Leu	73	0		74	6	NM_206876	B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042136	0.93685	.	.	ENSG00000213639	ENST00000455580;ENST00000358506;ENST00000296122;ENST00000395366	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	5.87	4.99	0.66335	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63274	-0.6674	10	0.87932	D	0	-5.3435	16.8359	0.85957	0.1296:0.8704:0.0:0.0	.	191	P62140	PP1B_HUMAN	L	163;191;191;191	ENSP00000390715:P163L;ENSP00000351298:P191L;ENSP00000296122:P191L;ENSP00000378769:P191L	ENSP00000296122:P191L	P	+	2	0	PPP1CB	28860328	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.750000	0.85110	1.615000	0.50252	0.655000	0.94253	CCT	.		0.328	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			T	29006824	C	T	29006824	3	4	19	1	0	0	0	0	1	0	0	0	12392	681	24	3	590	3	PPP1CB	2	29006824	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	2294679	29006824	214192549	27	2542											
LTBP1	4052	hgsc.bcm.edu;bcgsc.ca	37	2	33540337	33540337	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:33540337G>T	ENST00000404816.2	+	24	4083		c.e24+1		LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						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)				ACGTGTGAAGGTAAGATAAAC	0.438																																					.		.											.	.	.	0			c.3730+1G>T						.						103	91	95					2																	33540337		2203	4300	6503	SO:0001630	splice_region_variant	4052	exon24			GTGAAGGTAAGAT		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.3730+1G>T	2.37:g.33540337G>T		61	0		85	4	NM_206943	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Splice_Site	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459147	0.63401	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000415140;ENST00000272273;ENST00000422669	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2782	0.90089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP1	33393841	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.159000	0.77483	2.295000	0.77249	0.655000	0.94253	.	.		0.438	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Intron	T	33540337	G	T	33540337	5	4	19	1	0	0	0	0	0	0	1	0	9108	1275	44	3	3880	3	LTBP1	2	33540337	Splice_Site	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	4533513	33540337	209659036	28	2543											
PREPL	9581	hgsc.bcm.edu;bcgsc.ca	37	2	44550432	44550432	+	Missense_Mutation	SNP	C	C	T	rs375292548		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:44550432C>T	ENST00000409936.1	-	12	2302	c.1865G>A	c.(1864-1866)cGt>cAt	p.R622H	PREPL_ENST00000541738.1_Missense_Mutation_p.R533H|PREPL_ENST00000409272.1_Missense_Mutation_p.R622H|PREPL_ENST00000378520.3_Missense_Mutation_p.R556H|PREPL_ENST00000378511.3_Missense_Mutation_p.R560H|PREPL_ENST00000409957.1_Missense_Mutation_p.R533H|PREPL_ENST00000409411.1_Missense_Mutation_p.R533H|PREPL_ENST00000410081.1_Missense_Mutation_p.R622H|PREPL_ENST00000260648.6_Missense_Mutation_p.R622H	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	622						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)				GGGACAGTAACGTTTTATGTA	0.333																																					p.R622H		.											.	.	.	0			c.G1865A						.						207	195	199					2																	44550432		2203	4300	6503	SO:0001583	missense	9581	exon12			CAGTAACGTTTTA	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.1865G>A	2.37:g.44550432C>T	ENSP00000386543:p.Arg622His	63	0		60	4	NM_001171603	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	CCDS33190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.140660|2.140660	0.37825|0.37825	.|.	.|.	ENSG00000138078|ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000444696;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511|ENST00000420756	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|.	5.5|5.5	2.63|2.63	0.31362|0.31362	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);|.	0.457515|.	0.24925|.	N|.	0.034506|.	T|T	0.24005|0.24005	0.0581|0.0581	L|L	0.27053|0.27053	0.805|0.805	0.27154|0.27154	N|N	0.961331|0.961331	B;B;B|.	0.12013|.	0.001;0.002;0.005|.	B;B;B|.	0.15484|.	0.001;0.006;0.013|.	T|T	0.22068|0.22068	-1.0227|-1.0227	10|5	0.56958|.	D|.	0.05|.	-1.0027|-1.0027	4.4133|4.4133	0.11443|0.11443	0.2608:0.4903:0.0:0.2488|0.2608:0.4903:0.0:0.2488	.|.	560;556;622|.	Q4J6C6-3;Q4J6C6-2;Q4J6C6|.	.;.;PPCEL_HUMAN|.	H|I	533;533;533;622;17;622;622;622;556;560|4	ENSP00000439626:R533H;ENSP00000387095:R533H;ENSP00000387241:R533H;ENSP00000386543:R622H;ENSP00000260648:R622H;ENSP00000386909:R622H;ENSP00000386509:R622H;ENSP00000367781:R556H;ENSP00000367772:R560H|.	ENSP00000260648:R622H|.	R|V	-|-	2|1	0|0	PREPL|PREPL	44403936|44403936	0.979000|0.979000	0.34478|0.34478	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	0.723000|0.723000	0.25939|0.25939	0.240000|0.240000	0.21263|0.21263	-0.126000|-0.126000	0.14955|0.14955	CGT|GTT	.		0.333	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		T	44550432	C	T	44550432	3	4	19	1	0	0	0	0	1	0	0	0	12517	536	19	1	334	1	PREPL	2	44550432	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	11010095	44550432	198648941	29	2544											
C2orf63	130162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	55439844	55439844	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:55439844C>G	ENST00000401408.1	-	5	809	c.464G>C	c.(463-465)tGt>tCt	p.C155S	CLHC1_ENST00000407122.1_Missense_Mutation_p.C155S|CLHC1_ENST00000406076.1_Missense_Mutation_p.C33S|AC012358.7_ENST00000366153.2_RNA|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	155																	GGAGAAAGTACAATATTTTAC	0.318																																					p.C155S		.											.	.	.	0			c.G464C						.						130	124	126					2																	55439844		2201	4300	6501	SO:0001583	missense	130162	exon5			AAAGTACAATATT		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.464G>C	2.37:g.55439844C>G	ENSP00000384869:p.Cys155Ser	45	0		55	12	NM_152385	B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	0.627	-0.818699	0.02776	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.16743	2.32;2.32;2.34	4.6	-0.892	0.10570	.	1.060450	0.07312	N	0.876085	T	0.11495	0.0280	L	0.45581	1.43	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.40515	-0.9559	10	0.18276	T	0.48	-0.011	0.5595	0.00676	0.3273:0.3081:0.1604:0.2042	.	155	Q8NHS4	CB063_HUMAN	S	155;155;33	ENSP00000385778:C155S;ENSP00000384869:C155S;ENSP00000385512:C33S	ENSP00000384869:C155S	C	-	2	0	C2orf63	55293348	0.000000	0.05858	0.001000	0.08648	0.259000	0.26198	-0.167000	0.09940	0.120000	0.18254	0.305000	0.20034	TGT	.		0.318	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		G	55439844	C	G	55439844	3	3	19	1	0	0	0	0	1	0	0	0	2189	478	17	5	1332	5	C2orf63	2	55439844	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	10889412	55439844	187759529	30	2545											
WDR92	116143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	68371715	68371715	+	Splice_Site	SNP	A	A	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:68371715A>C	ENST00000295121.6	-	3	532		c.e3+1		WDR92_ENST00000406245.2_Splice_Site|WDR92_ENST00000409164.1_Splice_Site|WDR92_ENST00000492039.2_Splice_Site|RP11-474G23.1_ENST00000406334.3_Splice_Site	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92						apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ACAGGGACTCACCATCTCGGC	0.398																																					.		.											.	.	.	0			c.415+2T>G						.						109	110	110					2																	68371715		2203	4300	6503	SO:0001630	splice_region_variant	116143	exon4			GGACTCACCATCT	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.415+1T>G	2.37:g.68371715A>C		35	0		50	14	NM_138458	Q96CR6	Splice_Site	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057108	0.76074	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR92	68225219	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.973000	0.76116	2.288000	0.76882	0.528000	0.53228	.	.		0.398	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	Intron	C	68371715	A	C	68371715	5	2	19	1	0	0	0	0	0	0	1	0	17388	173	6	4	680	4	WDR92	2	68371715	Splice_Site	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	12931871	68371715	174827658	31	2546	10	2									
WDR92	116143	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	68371718	68371718	+	Splice_Site	SNP	A	A	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:68371718A>T	ENST00000295121.6	-	3	530	c.414T>A	c.(412-414)gaT>gaA	p.D138E	WDR92_ENST00000406245.2_Splice_Site_p.D37E|WDR92_ENST00000409164.1_Splice_Site_p.D138E|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	138					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GGGACTCACCATCTCGGCTGC	0.393																																					p.D138E		.											.	.	.	0			c.T414A						.						112	112	112					2																	68371718		2203	4300	6503	SO:0001630	splice_region_variant	116143	exon3			CTCACCATCTCGG	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.415+1T>A	2.37:g.68371718A>T		37	0		52	14	NM_001256476	Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581044	0.86748	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	D;D;D	0.89196	-2.48;-2.48;-2.48	6.16	-0.0874	0.13677	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.95906	0.8667	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94440	0.7657	10	0.87932	D	0	.	10.1639	0.42868	0.6841:0.0:0.3159:0.0	.	138	Q96MX6	WDR92_HUMAN	E	138;37;138	ENSP00000295121:D138E;ENSP00000384518:D37E;ENSP00000386746:D138E	ENSP00000295121:D138E	D	-	3	2	WDR92	68225222	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	2.290000	0.43531	-0.019000	0.14055	0.528000	0.53228	GAT	.		0.393	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	Missense_Mutation	T	68371718	A	T	68371718	5	4	19	1	0	0	0	0	0	0	1	0	17388	231	8	5	683	5	WDR92	2	68371718	Splice_Site	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	3	68371718	174827655	32	2547	10	2									
ALMS1	7840	hgsc.bcm.edu	37	2	73676231	73676231	+	Silent	SNP	G	G	T	rs547563359		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:73676231G>T	ENST00000264448.6	+	8	2685	c.2574G>T	c.(2572-2574)gcG>gcT	p.A858A	ALMS1_ENST00000377715.1_Silent_p.A858A|ALMS1_ENST00000409009.1_Silent_p.A816A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	858	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)		p.A858A(1)		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						CTTCCTCTGCGTCCTCTTCAC	0.488																																					p.A858A		.											ALMS1,colon,carcinoma,0,1	ALMS1	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G2574T						.						80	83	82					2																	73676231		1895	4112	6007	SO:0001819	synonymous_variant	7840	exon8			CTCTGCGTCCTCT	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.2574G>T	2.37:g.73676231G>T		33	0		40	3	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																			.		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		T	73676231	G	T	73676231	2	4	19	1	0	0	0	0	0	0	0	1	535	1132	40	2		2	ALMS1	2	73676231	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5304513	73676231	169523142	33	2548											
CTNNA2	1496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	80816537	80816537	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:80816537G>C	ENST00000402739.4	+	14	2121	c.2116G>C	c.(2116-2118)Gac>Cac	p.D706H	AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.D706H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D706H|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D740H|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.D385H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D706H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.D706H|AC008067.2_ENST00000595478.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	706					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.D706N(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						CAAATGGGACGACAGCGGCAA	0.502																																					p.D706H		.											CTNNA2_ENST00000466387,colon,carcinoma,0,1	CTNNA2_ENST00000466387	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2116C						.						129	139	136					2																	80816537		2199	4300	6499	SO:0001583	missense	1496	exon15			TGGGACGACAGCG		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.2116G>C	2.37:g.80816537G>C	ENSP00000384638:p.Asp706His	21	0		34	9	NM_001164883	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	28.0	4.883486	0.91740	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.97	5.97	0.96955	.	0.101115	0.64402	D	0.000003	T	0.72087	0.3417	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.74023	0.955;0.981;0.982;0.982	T	0.74677	-0.3585	9	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	338;706;706;706	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	706;706;740;706;706;706;385	ENSP00000418191:D706H;ENSP00000419295:D706H;ENSP00000355398:D740H;ENSP00000384638:D706H;ENSP00000444675:D706H;ENSP00000441705:D706H;ENSP00000341500:D385H	.	D	+	1	0	CTNNA2	80670048	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	9.623000	0.98386	2.836000	0.97738	0.655000	0.94253	GAC	.		0.502	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		C	80816537	G	C	80816537	3	2	19	1	0	0	0	0	1	0	0	0	4022	1058	37	5	1962	5	CTNNA2	2	80816537	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	7140306	80816537	162382836	34	2549											
C2orf55	343990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	99411049	99411049	+	Silent	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:99411049T>C	ENST00000397899.2	-	10	3166	c.2835A>G	c.(2833-2835)gaA>gaG	p.E945E		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	945																	TTCTGGCAAGTTCCATCCAGG	0.493																																					p.E945E		.											.	.	.	0			c.A2835G						.						132	129	130					2																	99411049		1940	4152	6092	SO:0001819	synonymous_variant	343990	exon10			GGCAAGTTCCATC	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.2835A>G	2.37:g.99411049T>C		24	0		38	9	NM_207362		Silent	SNP	ENST00000397899.2	37	CCDS42720.1																																																																																			.		0.493	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		C	99411049	T	C	99411049	2	2	19	1	0	0	0	0	0	0	0	1	2183	1722	60	4		4	C2orf55	2	99411049	Silent	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	18594512	99411049	143788324	35	2550											
MAP4K4	9448	hgsc.bcm.edu	37	2	102490597	102490597	+	Silent	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:102490597C>A	ENST00000347699.4	+	23	2689	c.2689C>A	c.(2689-2691)Cgg>Agg	p.R897R	MAP4K4_ENST00000324219.4_Silent_p.R978R|MAP4K4_ENST00000413150.2_Silent_p.R812R|MAP4K4_ENST00000302217.5_Silent_p.R700R|MAP4K4_ENST00000456652.1_Silent_p.R696R|MAP4K4_ENST00000350198.4_Silent_p.R816R|MAP4K4_ENST00000425019.1_Silent_p.R930R|MAP4K4_ENST00000350878.4_Silent_p.R937R	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	897	Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R978W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGATCCTACCCGGAAAGGCTC	0.428																																					p.R931R		.											MAP4K4,NS,carcinoma,0,2	MAP4K4	0	1	Substitution - Missense(1)	endometrium(1)	c.C2791A						.						106	106	106					2																	102490597		1932	4130	6062	SO:0001819	synonymous_variant	9448	exon24			CCTACCCGGAAAG	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2689C>A	2.37:g.102490597C>A		44	0		50	2	NM_145686	O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188408	0.21954	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.22	4.32	0.51571	.	.	.	.	.	T	0.63920	0.2552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62210	-0.6902	4	.	.	.	.	12.7915	0.57537	0.2977:0.7022:0.0:0.0	.	.	.	.	Q	713	.	.	P	+	2	0	MAP4K4	101857029	0.913000	0.31002	1.000000	0.80357	0.998000	0.95712	1.636000	0.37144	1.155000	0.42497	0.655000	0.94253	CCG	.		0.428	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		A	102490597	C	A	102490597	2	1	19	1	0	0	0	0	0	0	0	1	9300	643	23	2		2	MAP4K4	2	102490597	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	3079548	102490597	140708776	36	2551											
AMMECR1L	83607	broad.mit.edu	37	2	128628430	128628430	+	Silent	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:128628430G>T	ENST00000272647.5	-	5	851	c.591C>A	c.(589-591)ctC>ctA	p.L197L	AMMECR1L_ENST00000393001.1_Silent_p.L197L	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	197	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AGTTAGTAAGGAGGGAGACAG	0.517																																					p.L197L													.	AMMECR1L	22	0			c.C591A						.						63	58	60					2																	128628430		2203	4300	6503	SO:0001819	synonymous_variant	83607	exon5			AGTAAGGAGGGAG		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.591C>A	2.37:g.128628430G>T		26	0		35	3	NM_031445	B4E276	Silent	SNP	ENST00000272647.5	37	CCDS2152.1																																																																																			.		0.517	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		T	128628430	G	T	128628430	2	4	19	1	0	0	0	0	0	0	0	1	579	1161	41	3		3	AMMECR1L	2	128628430	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	26137833	128628430	114570943	37	2552											
ITGB6	3694	hgsc.bcm.edu;broad.mit.edu	37	2	160964274	160964274	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:160964274G>A	ENST00000283249.2	-	14	2421	c.2184C>T	c.(2182-2184)tgC>tgT	p.C728C	ITGB6_ENST00000428609.2_Silent_p.C686C|ITGB6_ENST00000409872.1_Silent_p.C728C|ITGB6_ENST00000409967.2_Silent_p.C621C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	728					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						GCTTCCAGATGCACAGTAGGA	0.433																																					p.C728C		.											.	.	.	0			c.C2184T						.						128	124	125					2																	160964274		2203	4300	6503	SO:0001819	synonymous_variant	3694	exon14			CCAGATGCACAGT		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.2184C>T	2.37:g.160964274G>A		45	0		52	4	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	CCDS2212.1																																																																																			.		0.433	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		A	160964274	G	A	160964274	2	1	19	1	0	0	0	0	0	0	0	1	7926	1311	46	3		3	ITGB6	2	160964274	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	32335844	160964274	82235099	38	2553											
RBMS1	5937	bcgsc.ca	37	2	161157164	161157164	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:161157164G>T	ENST00000348849.3	-	6	1068	c.638C>A	c.(637-639)tCt>tAt	p.S213Y	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.S180Y|RBMS1_ENST00000409289.2_Missense_Mutation_p.S180Y|RBMS1_ENST00000392753.3_Missense_Mutation_p.S213Y|RBMS1_ENST00000409075.1_Missense_Mutation_p.S180Y	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	213	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								CAACATACCAGAAACTCCTGG	0.303																																					p.S213Y													.	RBMS1	34	0			c.C638A						.						62	65	64					2																	161157164		2202	4296	6498	SO:0001583	missense	5937	exon6			ATACCAGAAACTC	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.638C>A	2.37:g.161157164G>T	ENSP00000294904:p.Ser213Tyr	67	0		70	4	NM_016836	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949819	0.73787	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.26067	1.77;1.97;1.97;1.76;1.97	5.03	5.03	0.67393	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.120197	0.64402	D	0.000017	T	0.35480	0.0933	L	0.34521	1.04	0.58432	D	0.999995	P;P;P;P;P;P	0.47106	0.697;0.56;0.87;0.89;0.56;0.56	B;B;P;P;B;B	0.53146	0.37;0.437;0.719;0.492;0.437;0.437	T	0.12967	-1.0527	10	0.87932	D	0	.	18.7142	0.91670	0.0:0.0:1.0:0.0	.	79;213;213;79;180;213	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	Y	213;180;180;213;180	ENSP00000294904:S213Y;ENSP00000386347:S180Y;ENSP00000386571:S180Y;ENSP00000376508:S213Y;ENSP00000387280:S180Y	ENSP00000294904:S213Y	S	-	2	0	RBMS1	160865410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.040000	0.64191	2.501000	0.84356	0.585000	0.79938	TCT	.		0.303	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		T	161157164	G	T	161157164	3	4	19	1	0	0	0	0	1	0	0	0	13193	942	33	3	614	3	RBMS1	2	161157164	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	192890	161157164	82042209	39	2554											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	179411745	179411745	+	Missense_Mutation	SNP	C	C	T	rs375657115		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:179411745C>T	ENST00000591111.1	-	290	89808	c.89584G>A	c.(89584-89586)Gct>Act	p.A29862T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22563T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28935T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A22438T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22630T|TTN_ENST00000589042.1_Missense_Mutation_p.A31503T|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29862	Fibronectin type-III 117. {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)			GGATTTTGAGCCATTATAGGT	0.363													C|||	1	0.000199681	0	0.0014	5008	,	,		24109	0		0	False		,,,				2504	0				p.A31503T		.											.	.	.	0			c.G94507A						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3794		0,0,1897	168	161	163		67312,86803,67687,67888	6	1	2		163	1,8235		0,1,4117	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	58,58,58,58	0,1,6014	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	22438/26927,28935/33424,22563/27052,22630/27119	179411745	1,12029	1897	4118	6015	SO:0001583	missense	7273	exon340			TTTGAGCCATTAT	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.89584G>A	2.37:g.179411745C>T	ENSP00000465570:p.Ala29862Thr	18	0		25	4	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	18.87	3.716202	0.68844	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.97	5.97	0.96955	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76449	0.3989	M	0.79693	2.465	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	0.77773	-0.2462	9	0.87932	D	0	.	20.4214	0.99039	0.0:1.0:0.0:0.0	.	22438;22563;22630;29862	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	28935;22438;22630;22563;22435	ENSP00000343764:A28935T;ENSP00000434586:A22438T;ENSP00000340554:A22630T;ENSP00000352154:A22563T	ENSP00000340554:A22630T	A	-	1	0	TTN	179119991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.820000	0.97059	0.655000	0.94253	GCT	.		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179411745	C	T	179411745	3	4	19	1	0	0	0	0	1	0	0	0	16784	739	26	3	13564	3	TTN	2	179411745	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	18254581	179411745	63787628	40	2555											
TTN	7273	bcgsc.ca	37	2	179615544	179615544	+	Intron	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:179615544C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.K3861K|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTTCCTCCTTCTCACATA	0.373																																					p.K3861K													.	TTN	18412	0			c.G11583A						.						88	87	87					2																	179615544		2203	4299	6502	SO:0001627	intron_variant	7273	exon46			TTCCTCCTTCTCA	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+2306G>A	2.37:g.179615544C>T		32	0		27	3	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																																																																																				.		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179615544	C	T	179615544	1	4	19	0	1	0	0	0	0	0	0	0	16784	680	24	3		3	TTN	2	179615544	Intron	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	203799	179615544	63583829	41	2556											
THAP4	51078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	242572711	242572711	+	Silent	SNP	T	T	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr2:242572711T>A	ENST00000407315.1	-	2	1292	c.861A>T	c.(859-861)tcA>tcT	p.S287S		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	287							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)		CGGTAAGTGATGAGCTGGGAG	0.642																																					p.S287S		.											.	.	.	0			c.A861T						.						78	84	82					2																	242572711		2203	4296	6499	SO:0001819	synonymous_variant	51078	exon2			AAGTGATGAGCTG	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.861A>T	2.37:g.242572711T>A		7	0		19	5	NM_015963	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																			.		0.642	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		A	242572711	T	A	242572711	2	1	19	1	0	0	0	0	0	0	0	1	15893	1451	51	5		5	THAP4	2	242572711	Silent	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	62957167	242572711	626662	42	2557											
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52651334	52651334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr3:52651334C>A	ENST00000296302.7	-	14	1763	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E588*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E603*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E588*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E588*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E588*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E603*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E556*			Q86U86	PB1_HUMAN	polybromo 1	588	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)		TTCATGTCTTCTATCATTCCC	0.453			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.E588X		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	.	.	0			c.G1762T						.						113	102	106					3																	52651334		2203	4300	6503	SO:0001587	stop_gained	55193	exon15			TGTCTTCTATCAT	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.1762G>T	3.37:g.52651334C>A	ENSP00000296302:p.Glu588*	49	0		25	6	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	39	7.671659	0.98425	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	0.207947	0.49916	D	0.000139	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-10.6922	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	X	556;588;588;588;588;588;603;603;588;547	.	ENSP00000296302:E588X	E	-	1	0	PBRM1	52626374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	GAA	.		0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52651334	C	A	52651334	4	1	19	1	0	0	0	0	0	1	0	0	11530	922	32	3	3206	3	PBRM1	3	52651334	Nonsense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		52651334	145371096	43	2558											
C3orf63	23272	hgsc.bcm.edu	37	3	56667432	56667432	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr3:56667432G>A	ENST00000493960.2	-	18	3397	c.3387C>T	c.(3385-3387)aaC>aaT	p.N1129N	FAM208A_ENST00000355628.5_Silent_p.N1068N|FAM208A_ENST00000431842.2_Silent_p.N692N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1129				N -> S (in Ref. 1; AAD55098). {ECO:0000305}.			poly(A) RNA binding (GO:0044822)	p.N1068K(1)|p.S692R(1)		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						GATGTTTATTGTTGAAGTCAC	0.438																																					p.N1129N		.											FAM208A,NS,carcinoma,0,2	FAM208A	0	2	Substitution - Missense(2)	kidney(2)	c.C3387T						.						139	134	136					3																	56667432		2203	4300	6503	SO:0001819	synonymous_variant	23272	exon18			TTTATTGTTGAAG	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.3387C>T	3.37:g.56667432G>A		21	0		23	2	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	CCDS46853.1																																																																																			.		0.438	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		A	56667432	G	A	56667432	2	1	19	1	0	0	0	0	0	0	0	1	2246	1368	48	3		3	C3orf63	3	56667432	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	4016098	56667432	141354998	44	2559											
MINA	84864	hgsc.bcm.edu	37	3	97668828	97668828	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr3:97668828C>A	ENST00000333396.7	-	7	1502	c.920G>T	c.(919-921)cGa>cTa	p.R307L	MINA_ENST00000360258.4_Missense_Mutation_p.R306L|MINA_ENST00000394198.2_Missense_Mutation_p.R307L	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						GCCACTTAATCGTCTTGTAGC	0.512																																					p.R307L		.											.	.	.	0			c.G920T						.						99	90	93					3																	97668828		2203	4300	6503	SO:0001583	missense	84864	exon7			CTTAATCGTCTTG	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.920G>T	3.37:g.97668828C>A	ENSP00000328251:p.Arg307Leu	24	0		52	4	NM_001042533		Missense_Mutation	SNP	ENST00000333396.7	37	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159278	0.57368	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.16196	3.05;3.05;2.36	5.6	-1.97	0.07503	Cupin, JmjC-type (1);	0.461581	0.25558	N	0.029851	T	0.12860	0.0312	L	0.43152	1.355	0.09310	N	1	B;B	0.31256	0.27;0.316	B;B	0.35727	0.132;0.209	T	0.24012	-1.0172	10	0.29301	T	0.29	-1.991	7.8975	0.29715	0.0:0.2117:0.1295:0.6588	.	306;307	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	L	53;307;307;306	ENSP00000328251:R307L;ENSP00000377748:R307L;ENSP00000353395:R306L	ENSP00000328251:R307L	R	-	2	0	MINA	99151518	0.000000	0.05858	0.000000	0.03702	0.444000	0.32077	-0.689000	0.05144	-0.465000	0.06953	-0.302000	0.09304	CGA	.		0.512	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		A	97668828	C	A	97668828	3	1	19	1	0	0	0	0	1	0	0	0	9624	884	31	2	493	2	MINA	3	97668828	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	41001396	97668828	100353602	45	2560											
ISY1	57461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	128853021	128853021	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr3:128853021C>T	ENST00000393295.3	-	9	876	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	ISY1_ENST00000393292.3_Missense_Mutation_p.G188E|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Missense_Mutation_p.E209K|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E187K	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	187					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						TTCCACTTTTCCACTAACTCG	0.478																																					p.E209K		.											.	.	.	0			c.G625A						.						149	142	144					3																	128853021		1923	4148	6071	SO:0001583	missense	57461	exon10			ACTTTTCCACTAA		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.559G>A	3.37:g.128853021C>T	ENSP00000376973:p.Glu187Lys	22	0		32	8	NM_001199469	Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	CCDS43149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.99|15.99	2.994721|2.994721	0.54041|0.54041	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541|ENST00000393292	T|.	0.32753|.	1.44|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.112845|.	0.64402|.	D|.	0.000014|.	T|T	0.36248|0.36248	0.0960|0.0960	L|L	0.39397|0.39397	1.21|1.21	0.19945|0.19945	N|N	0.999948|0.999948	B;B;B|.	0.23185|.	0.004;0.009;0.081|.	B;B;B|.	0.21708|.	0.008;0.016;0.036|.	T|T	0.30504|0.30504	-0.9976|-0.9976	10|6	0.17369|0.02654	T|T	0.5|1	.|.	15.1929|15.1929	0.73060|0.73060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	209;187;187|.	Q9ULR0-2;Q9ULR0;Q9ULR0-1|.	.;ISY1_HUMAN;.|.	K|E	187;187;209|188	ENSP00000273541:E209K|.	ENSP00000273541:E209K|ENSP00000376970:G188E	E|G	-|-	1|2	0|0	ISY1|ISY1	130335711|130335711	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.847000|0.847000	0.48162|0.48162	4.137000|4.137000	0.58010|0.58010	2.650000|2.650000	0.89964|0.89964	0.585000|0.585000	0.79938|0.79938	GAA|GGA	.		0.478	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		T	128853021	C	T	128853021	3	4	19	1	0	0	0	0	1	0	0	0	7893	864	30	3	310	3	ISY1	3	128853021	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	31184193	128853021	69169409	46	2561											
KCNMB2	10242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	178560605	178560605	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr3:178560605G>A	ENST00000432997.1	+	5	940	c.588G>A	c.(586-588)ctG>ctA	p.L196L	RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.L196L|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.L196L|KCNMB2_ENST00000452583.1_Silent_p.L196L	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	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(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)	CCAACGTGCTGTTCCATTCAC	0.458																																					p.L196L		.											.	.	.	0			c.G588A						.						98	92	94					3																	178560605		2203	4300	6503	SO:0001819	synonymous_variant	10242	exon6			CGTGCTGTTCCAT	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.588G>A	3.37:g.178560605G>A		38	0		45	18	NM_005832	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000432997.1	37	CCDS3223.1																																																																																			.		0.458	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		A	178560605	G	A	178560605	2	1	19	1	0	0	0	0	0	0	0	1	8102	1364	48	3		3	KCNMB2	3	178560605	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	49707584	178560605	19461825	47	2562											
CLDN16	10686	hgsc.bcm.edu	37	3	190106072	190106072	+	Missense_Mutation	SNP	G	G	T	rs386669518|rs201380153|rs56086318|rs368234054	byFrequency	TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr3:190106072G>T	ENST00000264734.2	+	1	412	c.164G>T	c.(163-165)aGg>aTg	p.R55M	CLDN16_ENST00000456423.1_Missense_Mutation_p.R55M|CLDN16_ENST00000468220.1_Intron	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																																					p.R55M		.											.,1	.	59	0			c.G164T						.						145	107	120					3																	190106072		2203	4291	6494	SO:0001583	missense	10686	exon1			GGGCCAGGGCTGG	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.164G>T	3.37:g.190106072G>T	ENSP00000264734:p.Arg55Met	23	0		31	2	NM_006580		Missense_Mutation	SNP	ENST00000264734.2	37	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	3.899	-0.022372	0.07634	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.93763	-2.92;-3.28	5.61	1.57	0.23409	.	1.365350	0.04318	N	0.350134	D	0.91192	0.7225	N	0.19112	0.55	0.09310	N	1	D;B	0.54207	0.965;0.41	P;B	0.53313	0.723;0.204	T	0.82362	-0.0495	10	0.56958	D	0.05	-18.8536	6.6557	0.22986	0.1665:0.3355:0.498:0.0	.	55;55	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	M	55	ENSP00000264734:R55M;ENSP00000414136:R55M	ENSP00000264734:R55M	R	+	2	0	CLDN16	191588766	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.492000	0.22435	0.324000	0.23333	0.460000	0.39030	AGG	.		0.512	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		T	190106072	G	T	190106072	3	4	19	1	0	0	0	0	1	0	0	0	3484	1000	35	3	166	3	CLDN16	3	190106072	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	11545467	190106072	7916358	48	2563											
TACC3	10460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	1729639	1729639	+	Silent	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:1729639T>C	ENST00000313288.4	+	4	616	c.510T>C	c.(508-510)tcT>tcC	p.S170S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	170					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)			AAATGGTGTCTCCAGGAAAAG	0.567																																					p.S170S	Ovarian(120;482 2294 11894 35824)	.											.	.	.	0			c.T510C						.						68	79	75					4																	1729639		2203	4300	6503	SO:0001819	synonymous_variant	10460	exon4			GGTGTCTCCAGGA	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.510T>C	4.37:g.1729639T>C		39	0		59	8	NM_006342	Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																			.		0.567	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			C	1729639	T	C	1729639	2	2	19	1	0	0	0	0	0	0	0	1	15550	1538	54	4		4	TACC3	4	1729639	Silent	SNP	T	TCGA-W5-AA30-01A-31D-A417-09		1729639	189424637	49	2564											
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	30723183	30723183	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:30723183C>T	ENST00000361762.2	+	1	1147	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDH7_ENST00000543491.1_Missense_Mutation_p.R47C	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	47	Cadherin 1. {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						CGCCGACGTCCGCATCGGCAA	0.672																																					p.R47C		.											.	.	.	0			c.C139T						.						32	32	32					4																	30723183		2203	4300	6503	SO:0001583	missense	5099	exon1			GACGTCCGCATCG	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.139C>T	4.37:g.30723183C>T	ENSP00000355243:p.Arg47Cys	26	0		32	5	NM_032457	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631759	0.67015	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.27256	1.68;1.68	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.46229	0.1382	L	0.58101	1.795	0.53688	D	0.999975	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.61800	0.894;0.894;0.86	T	0.45804	-0.9236	9	0.72032	D	0.01	.	18.0704	0.89404	0.0:1.0:0.0:0.0	.	47;47;47	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	C	47	ENSP00000355243:R47C;ENSP00000441802:R47C	ENSP00000330302:R47C	R	+	1	0	PCDH7	30332281	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.189000	0.50965	2.364000	0.80123	0.305000	0.20034	CGC	.		0.672	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		T	30723183	C	T	30723183	3	4	19	1	0	0	0	0	1	0	0	0	11555	652	23	1	141	1	PCDH7	4	30723183	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	28993544	30723183	160431093	50	2565											
C4orf14	84273	broad.mit.edu	37	4	57843464	57843464	+	Silent	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:57843464T>C	ENST00000264230.4	-	1	1525	c.288A>G	c.(286-288)caA>caG	p.Q96Q	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	96					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										cctcctgctgttgctggagct	0.657																																					p.Q96Q													.	.	.	0			c.A288G						.						37	37	37					4																	57843464		2203	4296	6499	SO:0001819	synonymous_variant	84273	exon1			CTGCTGTTGCTGG	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.288A>G	4.37:g.57843464T>C		19	0		27	3	NM_032313	Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	CCDS3510.1																																																																																			.		0.657	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		C	57843464	T	C	57843464	2	2	19	1	0	0	0	0	0	0	0	1	2258	1722	60	4		4	C4orf14	4	57843464	Silent	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	27120281	57843464	133310812	51	2566											
HELQ	113510	hgsc.bcm.edu	37	4	84374566	84374566	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:84374566G>A	ENST00000295488.3	-	2	992	c.830C>T	c.(829-831)gCg>gTg	p.A277V	MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.A277V|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000440639.2_5'Flank|MRPS18C_ENST00000295491.4_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	277					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						CTGGGCCTTCGCATTTCCAGT	0.368								Other identified genes with known or suspected DNA repair function																													p.A277V		.											HELQ,NS,carcinoma,0,1	HELQ	0	0			c.C830T						.						165	171	169					4																	84374566		2203	4300	6503	SO:0001583	missense	113510	exon2			GCCTTCGCATTTC	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.830C>T	4.37:g.84374566G>A	ENSP00000295488:p.Ala277Val	71	0		72	3	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753721	0.89753	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.60672	0.17;1.34	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.67953	2.075	0.31001	N	0.720335	D;D;D;D	0.89917	1.0;0.997;1.0;0.983	D;P;D;P	0.97110	0.996;0.723;1.0;0.521	T	0.71434	-0.4594	10	0.29301	T	0.29	-24.8151	20.2566	0.98424	0.0:0.0:1.0:0.0	.	277;277;240;277	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	V	277	ENSP00000295488:A277V;ENSP00000424539:A277V	ENSP00000295488:A277V	A	-	2	0	HELQ	84593590	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.058000	0.93896	2.793000	0.96121	0.561000	0.74099	GCG	.		0.368	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		A	84374566	G	A	84374566	3	1	19	1	0	0	0	0	1	0	0	0	7074	1087	38	1	2543	1	HELQ	4	84374566	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	26531102	84374566	106779710	52	2567											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	114282026	114282026	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:114282026G>A	ENST00000357077.4	+	39	10782	c.10729G>A	c.(10729-10731)Gct>Act	p.A3577T	ANK2_ENST00000394537.3_Missense_Mutation_p.A1492T|ANK2_ENST00000510275.2_Missense_Mutation_p.A144T|ANK2_ENST00000506722.1_Missense_Mutation_p.A1483T|ANK2_ENST00000264366.6_Missense_Mutation_p.A3544T|ANK2_ENST00000509550.1_Missense_Mutation_p.A668T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3577	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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)		GGCTTATATTGCTGATCACCT	0.458																																					p.A3577T		.											.	.	.	0			c.G10729A						.						144	125	131					4																	114282026		2203	4300	6503	SO:0001583	missense	287	exon39			TATATTGCTGATC	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.10729G>A	4.37:g.114282026G>A	ENSP00000349588:p.Ala3577Thr	30	0		29	6	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.419079|5.419079	0.96092|0.96092	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960;ENST00000504415	D;D;D;D;D;D;D|.	0.86164|.	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.233767|.	0.29515|.	N|.	0.011925|.	T|T	0.77110|0.77110	0.4082|0.4082	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999988|0.999988	P;P;D;P;D;P|.	0.76494|.	0.849;0.566;0.97;0.673;0.999;0.721|.	P;B;P;B;D;P|.	0.81914|.	0.543;0.39;0.675;0.248;0.995;0.476|.	T|T	0.76391|0.76391	-0.2976|-0.2976	10|5	0.72032|.	D|.	0.01|.	.|.	19.2227|19.2227	0.93805|0.93805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	668;527;493;1492;3577;1483|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	T|Y	1483;527;1492;3577;3544;1483;668;144;587|493;144	ENSP00000421067:A1483T;ENSP00000378044:A1492T;ENSP00000349588:A3577T;ENSP00000264366:A3544T;ENSP00000426944:A668T;ENSP00000421023:A144T;ENSP00000422498:A587T|.	ENSP00000264366:A3544T|.	A|C	+|+	1|2	0|0	ANK2|ANK2	114501475|114501475	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	7.634000|7.634000	0.83273|0.83273	2.547000|2.547000	0.85894|0.85894	0.557000|0.557000	0.71058|0.71058	GCT|TGC	.		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114282026	G	A	114282026	3	1	19	1	0	0	0	0	1	0	0	0	621	1319	46	3	10948	3	ANK2	4	114282026	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	29907460	114282026	76872250	53	2568											
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	123210346	123210346	+	Splice_Site	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:123210346T>C	ENST00000264501.4	+	54	9760	c.9387T>C	c.(9385-9387)tcT>tcC	p.S3129S	KIAA1109_ENST00000388738.3_Splice_Site_p.S3129S|KIAA1109_ENST00000455637.1_Splice_Site_p.S3129S			Q2LD37	K1109_HUMAN	KIAA1109	3129					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						AAAAAGTTTCTGGTAAGATGA	0.328																																					p.S3129S		.											.	.	.	0			c.T9387C						.						90	82	84					4																	123210346		1835	4081	5916	SO:0001630	splice_region_variant	84162	exon52			AGTTTCTGGTAAG	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.9388+1T>C	4.37:g.123210346T>C		38	0		67	6	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474669	0.26511	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.78	3.03	0.35002	.	.	.	.	.	T	0.54663	0.1872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48614	-0.9020	4	.	.	.	.	6.2962	0.21087	0.5089:0.0:0.1176:0.3735	.	.	.	.	R	1087	.	.	W	+	1	0	KIAA1109	123429796	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.991000	0.49409	0.873000	0.35799	0.528000	0.53228	TGG	.		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Silent	C	123210346	T	C	123210346	5	2	19	1	0	0	0	0	0	0	1	0	8235	1594	55	4	9593	4	KIAA1109	4	123210346	Splice_Site	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	8928320	123210346	67943930	54	2569											
TBC1D9	23158	broad.mit.edu	37	4	141677078	141677080	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:141677078_141677080delCCG	ENST00000442267.2	-	1	194_196	c.120_122delCGG	c.(118-123)ggcgga>gga	p.40_41GG>G	RP11-102N12.3_ENST00000609937.1_lincRNA	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	40							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)				ACCCGCCAGTCCGCCGCCGCCGC	0.739																																					p.40_41del													.	TBC1D9	198	0			c.120_122del						.																																			SO:0001651	inframe_deletion	23158	exon1			GCCAGTCCGCCGC	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.120_122delCGG	4.37:g.141677087_141677089delCCG	ENSP00000411197:p.Gly41del	7	0		6	2	NM_015130	A6H8U8|D3DNZ1|O94958	In_Frame_Del	DEL	ENST00000442267.2	37	CCDS47136.1																																																																																			.		0.739	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		-	141677080	CCG	-	141677078	7	5	19	1	0	1	0	1	0	0	0	0	15674	855	30	0	3762	0	TBC1D9	4	141677078	In_Frame_Del	DEL	CCG	TCGA-W5-AA30-01A-31D-A417-09	18466732	141677078	49477198	55	2570											
FBXW7	55294	hgsc.bcm.edu	37	4	153250882	153250882	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:153250882C>T	ENST00000281708.4	-	8	2407	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	FBXW7_ENST00000393956.3_Missense_Mutation_p.R217Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R313Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R393Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R275Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R393Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	393					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAACTATTCGGTTACCACA	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																p.R393Q		.		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	FBXW7_NM_018315_2,NS,carcinoma,-1,5	FBXW7_NM_018315_2	-1	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1178A						.						119	108	112					4																	153250882		2203	4300	6503	SO:0001583	missense	55294	exon8			ACTATTCGGTTAC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1178G>A	4.37:g.153250882C>T	ENSP00000281708:p.Arg393Gln	47	0		44	2	NM_033632	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052681	0.55218	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053576	0.85682	D	0.000000	T	0.35595	0.0937	N	0.03983	-0.305	0.80722	D	1	P;P;B;P	0.43701	0.485;0.815;0.43;0.552	B;B;B;B	0.33295	0.099;0.161;0.06;0.06	T	0.47407	-0.9120	10	0.54805	T	0.06	-12.7554	20.5373	0.99239	0.0:1.0:0.0:0.0	.	217;393;275;313	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	393;275;313;217	ENSP00000281708:R393Q;ENSP00000296555:R275Q;ENSP00000263981:R313Q;ENSP00000377528:R217Q	ENSP00000263981:R313Q	R	-	2	0	FBXW7	153470332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.857000	0.98124	0.650000	0.86243	CGA	.		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			T	153250882	C	T	153250882	3	4	19	1	0	0	0	0	1	0	0	0	5791	884	31	1	965	1	FBXW7	4	153250882	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	11573804	153250882	37903394	56	2571											
GRIA2	2891	hgsc.bcm.edu	37	4	158257613	158257613	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:158257613G>T	ENST00000264426.9	+	11	1837	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W	GRIA2_ENST00000393815.2_Missense_Mutation_p.G473W|GRIA2_ENST00000507898.1_Missense_Mutation_p.G473W|GRIA2_ENST00000296526.7_Missense_Mutation_p.G520W|GRIA2_ENST00000449365.1_Missense_Mutation_p.G473W	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	520					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.G520W(3)		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)	CATGAGCCTCGGGATATCTAT	0.408																																					p.G520W		.											GRIA2_ENST00000264426,colon,carcinoma,0,3	GRIA2_ENST00000264426	0	3	Substitution - Missense(3)	lung(2)|breast(1)	c.G1558T						.						188	185	186					4																	158257613		2203	4300	6503	SO:0001583	missense	2891	exon11			AGCCTCGGGATAT		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.1558G>T	4.37:g.158257613G>T	ENSP00000264426:p.Gly520Trp	65	0		67	3	NM_000826	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100065	0.76983	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.46	5.46	0.80206	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.82259	0.4998	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.999	D	0.88996	0.3418	10	0.87932	D	0	.	19.6634	0.95882	0.0:0.0:1.0:0.0	.	520;520;473	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	W	473;473;520;520;473	ENSP00000426845:G473W;ENSP00000377403:G473W;ENSP00000296526:G520W;ENSP00000264426:G520W;ENSP00000389837:G473W	ENSP00000264426:G520W	G	+	1	0	GRIA2	158477063	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.720000	0.93068	0.655000	0.94253	GGG	.		0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			T	158257613	G	T	158257613	3	4	19	1	0	0	0	0	1	0	0	0	6795	1116	39	2	1600	2	GRIA2	4	158257613	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5006731	158257613	32896663	57	2572											
DDX60	55601	bcgsc.ca	37	4	169169372	169169372	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:169169372G>T	ENST00000393743.3	-	29	4221	c.3930C>A	c.(3928-3930)aaC>aaA	p.N1310K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1310	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		GATAGACTGAGTTTTGAGCAA	0.363																																					p.N1310K													.	DDX60	304	0			c.C3930A						.						125	117	119					4																	169169372		2203	4300	6503	SO:0001583	missense	55601	exon29			GACTGAGTTTTGA	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.3930C>A	4.37:g.169169372G>T	ENSP00000377344:p.Asn1310Lys	41	0		41	4	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243900	0.58995	.	.	ENSG00000137628	ENST00000393743	T	0.75050	-0.9	4.84	-2.5	0.06384	Helicase, C-terminal (3);	0.177646	0.39407	N	0.001375	T	0.75466	0.3853	L	0.48877	1.53	0.33797	D	0.626196	D	0.53462	0.96	P	0.57244	0.816	T	0.79960	-0.1583	10	0.72032	D	0.01	.	13.4794	0.61326	0.7606:0.0:0.2394:0.0	.	1310	Q8IY21	DDX60_HUMAN	K	1310	ENSP00000377344:N1310K	ENSP00000377344:N1310K	N	-	3	2	DDX60	169405947	0.994000	0.37717	0.338000	0.25549	0.939000	0.58152	0.153000	0.16323	-0.515000	0.06479	-0.259000	0.10710	AAC	.		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		T	169169372	G	T	169169372	3	4	19	1	0	0	0	0	1	0	0	0	4387	1020	36	3	1248	3	DDX60	4	169169372	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	10911759	169169372	21984904	58	2573											
TLR3	7098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	187004484	187004484	+	Silent	SNP	C	C	T	rs147873871	byFrequency	TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr4:187004484C>T	ENST00000296795.3	+	4	1748	c.1644C>T	c.(1642-1644)caC>caT	p.H548H	TLR3_ENST00000504367.1_Silent_p.H271H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	548					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)		TCTGGAAACACGCAAACCCTG	0.453													c|||	2	0.000399361	0.0015	0	5008	,	,		19900	0		0	False		,,,				2504	0				p.H548H		.											.	.	.	0			c.C1644T						.	T		2,4404	4.2+/-10.8	0,2,2201	109	104	105		1644	-11.3	0	4	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	TLR3	NM_003265.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		548/905	187004484	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7098	exon4			GAAACACGCAAAC	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.1644C>T	4.37:g.187004484C>T		42	0		25	9	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	CCDS3846.1																																																																																			0.000		0.453	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			T	187004484	C	T	187004484	2	4	19	1	0	0	0	0	0	0	0	1	15999	535	19	1		1	TLR3	4	187004484	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	17835112	187004484	4149792	59	2574											
PTCD2	79810	broad.mit.edu	37	5	71630907	71630907	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:71630907C>G	ENST00000380639.5	+	5	547	c.531C>G	c.(529-531)atC>atG	p.I177M	PTCD2_ENST00000536805.1_Intron|PTCD2_ENST00000543322.1_Intron|PTCD2_ENST00000503868.1_Intron	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	177					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)		TGTTATTTATCAAAGGCAAAT	0.328																																					p.I177M													.	PTCD2	31	0			c.C531G						.						68	67	67					5																	71630907		2202	4296	6498	SO:0001583	missense	79810	exon5			ATTTATCAAAGGC	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.531C>G	5.37:g.71630907C>G	ENSP00000370013:p.Ile177Met	46	0		45	5	NM_024754	B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140241	0.56936	.	.	ENSG00000049883	ENST00000380639;ENST00000510676	T;T	0.50277	0.99;0.75	6.04	3.22	0.36961	.	0.660669	0.16488	N	0.212225	T	0.43523	0.1251	M	0.62723	1.935	0.80722	D	1	B	0.26002	0.139	B	0.24701	0.055	T	0.29882	-0.9997	10	0.56958	D	0.05	.	8.0375	0.30502	0.0:0.7172:0.1302:0.1526	.	177	Q8WV60	PTCD2_HUMAN	M	177;6	ENSP00000370013:I177M;ENSP00000426295:I6M	ENSP00000308948:I177M	I	+	3	3	PTCD2	71666663	0.987000	0.35691	0.993000	0.49108	0.943000	0.58893	0.672000	0.25187	0.391000	0.25143	0.563000	0.77884	ATC	.		0.328	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		G	71630907	C	G	71630907	3	3	19	1	0	0	0	0	1	0	0	0	12770	816	29	5	549	5	PTCD2	5	71630907	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		71630907	109284353	60	2575											
CCNH	902	hgsc.bcm.edu	37	5	86703897	86703897	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:86703897C>T	ENST00000256897.4	-	4	645	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	CCNH_ENST00000513499.1_Intron|CCNH_ENST00000504878.1_Missense_Mutation_p.E67K|CCNH_ENST00000508855.1_Missense_Mutation_p.E67K	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	141					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)		AGTATCTGTTCAAGTGCCTTC	0.418								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																													p.E141K		.											CCNH,NS,carcinoma,0,1	CCNH	0	0			c.G421A						.						133	129	130					5																	86703897		2203	4300	6503	SO:0001583	missense	902	exon4			TCTGTTCAAGTGC	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.421G>A	5.37:g.86703897C>T	ENSP00000256897:p.Glu141Lys	49	0		42	2	NM_001239	Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206064	0.95033	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.16597	2.33;2.33;2.33	5.14	5.14	0.70334	Cyclin, N-terminal (1);Cyclin-like (3);	0.095200	0.64402	D	0.000001	T	0.33818	0.0876	L	0.47016	1.485	0.80722	D	1	D;P	0.69078	0.997;0.902	D;P	0.64321	0.924;0.594	T	0.01349	-1.1378	10	0.31617	T	0.26	-17.2016	18.5912	0.91214	0.0:1.0:0.0:0.0	.	141;88	P51946;E9PDB6	CCNH_HUMAN;.	K	67;141;67	ENSP00000426454:E67K;ENSP00000256897:E141K;ENSP00000426075:E67K	ENSP00000256897:E141K	E	-	1	0	CCNH	86739653	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	5.700000	0.68318	2.398000	0.81561	0.655000	0.94253	GAA	.		0.418	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		T	86703897	C	T	86703897	3	4	19	1	0	0	0	0	1	0	0	0	2932	835	29	3	574	3	CCNH	5	86703897	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	15072990	86703897	94211363	61	2576											
LMNB1	4001	hgsc.bcm.edu	37	5	126140499	126140499	+	Missense_Mutation	SNP	G	G	T	rs373303194		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:126140499G>T	ENST00000261366.5	+	2	752	c.391G>T	c.(391-393)Gcc>Tcc	p.A131S	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Missense_Mutation_p.A131S	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	131	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)		TCTTAATGGCGCCCAGATCAA	0.418																																					p.A131S		.											LMNB1,NS,carcinoma,0,1	LMNB1	0	0			c.G391T						.						117	112	113					5																	126140499		2203	4300	6503	SO:0001583	missense	4001	exon2			AATGGCGCCCAGA	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.391G>T	5.37:g.126140499G>T	ENSP00000261366:p.Ala131Ser	38	0		27	2	NM_005573	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840507	0.71488	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.83506	-1.73;-1.73	5.15	4.27	0.50696	Filament (1);	0.054186	0.64402	D	0.000001	T	0.82250	0.4996	L	0.50333	1.59	0.80722	D	1	P	0.36010	0.532	B	0.42593	0.392	T	0.81088	-0.1091	10	0.39692	T	0.17	.	15.2845	0.73816	0.0:0.0:0.8586:0.1414	.	131	P20700	LMNB1_HUMAN	S	131	ENSP00000261366:A131S;ENSP00000378761:A131S	ENSP00000261366:A131S	A	+	1	0	LMNB1	126168398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.173000	0.65010	1.298000	0.44778	0.655000	0.94253	GCC	.		0.418	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		T	126140499	G	T	126140499	3	4	19	1	0	0	0	0	1	0	0	0	8879	1087	38	2	397	2	LMNB1	5	126140499	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	39436602	126140499	54774761	62	2577											
CAMLG	819	hgsc.bcm.edu	37	5	134074424	134074424	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:134074424G>T	ENST00000297156.2	+	1	234	c.114G>T	c.(112-114)atG>atT	p.M38I	CAMLG_ENST00000514518.1_Missense_Mutation_p.M38I	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	38					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AGCTGCTCATGAACTCGGAAC	0.672																																					p.M38I		.											CAMLG,colon,carcinoma,0,1	CAMLG	0	0			c.G114T						.						39	41	40					5																	134074424		2203	4300	6503	SO:0001583	missense	819	exon1			GCTCATGAACTCG	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"calcium-modulating cyclophilin ligand", "calcium-signal modulating cyclophilin ligand", "cyclophilin B-binding protein"	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.114G>T	5.37:g.134074424G>T	ENSP00000297156:p.Met38Ile	29	0		49	2	NM_001745	A1L3Y3	Missense_Mutation	SNP	ENST00000297156.2	37	CCDS4178.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004278	0.54254	.	.	ENSG00000164615	ENST00000297156;ENST00000514518	T;T	0.31510	1.49;1.49	5.93	5.93	0.95920	.	0.281606	0.49305	D	0.000155	T	0.32164	0.0820	M	0.62723	1.935	0.44677	D	0.997666	B;B	0.33171	0.328;0.4	B;B	0.28011	0.048;0.085	T	0.07195	-1.0785	10	0.51188	T	0.08	-12.9891	14.7471	0.69496	0.0:0.0:0.8553:0.1447	.	38;38	D6RIW3;P49069	.;CAMLG_HUMAN	I	38	ENSP00000297156:M38I;ENSP00000427331:M38I	ENSP00000297156:M38I	M	+	3	0	CAMLG	134102323	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.137000	0.64789	2.815000	0.96918	0.561000	0.74099	ATG	.		0.672	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1	NM_001745		T	134074424	G	T	134074424	3	4	19	1	0	0	0	0	1	0	0	0	2616	1290	45	3	116	3	CAMLG	5	134074424	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	7933925	134074424	46840836	63	2578											
PCDHB5	26167	hgsc.bcm.edu	37	5	140516886	140516886	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:140516886C>T	ENST00000231134.5	+	1	2087	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	624	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)			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)			TGGCGAGGTGCGCACCGCCAG	0.701																																					p.R624C		.											PCDHB5,NS,carcinoma,0,2	PCDHB5	0	0			c.C1870T						.						40	43	42					5																	140516886		2146	4196	6342	SO:0001583	missense	26167	exon1			GAGGTGCGCACCG	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.1870C>T	5.37:g.140516886C>T	ENSP00000231134:p.Arg624Cys	68	0		65	4	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649925	0.47362	.	.	ENSG00000113209	ENST00000231134	T	0.52754	0.65	4.65	4.65	0.58169	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69967	0.3170	M	0.90542	3.125	0.40112	D	0.976502	D	0.89917	1.0	D	0.87578	0.998	T	0.75147	-0.3420	9	0.72032	D	0.01	.	7.3497	0.26684	0.2843:0.6336:0.0:0.0821	.	624	Q9Y5E4	PCDB5_HUMAN	C	624	ENSP00000231134:R624C	ENSP00000231134:R624C	R	+	1	0	PCDHB5	140497070	0.087000	0.21565	1.000000	0.80357	0.886000	0.51366	1.626000	0.37039	2.301000	0.77427	0.430000	0.28490	CGC	.		0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140516886	C	T	140516886	3	4	19	1	0	0	0	0	1	0	0	0	11584	768	27	1	1872	1	PCDHB5	5	140516886	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	6442462	140516886	40398374	64	2579											
KIF4B	285643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	154396256	154396256	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:154396256A>C	ENST00000435029.4	+	1	2997	c.2837A>C	c.(2836-2838)aAg>aCg	p.K946T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	946	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)			ATGGCAGAGAAGCAGTTAGAG	0.488																																					p.K946T		.											.	.	.	0			c.A2837C						.						94	90	91					5																	154396256		2203	4300	6503	SO:0001583	missense	285643	exon1			CAGAGAAGCAGTT	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.2837A>C	5.37:g.154396256A>C	ENSP00000387875:p.Lys946Thr	32	0		28	6	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	0.211	-1.036655	0.02013	.	.	ENSG00000226650	ENST00000435029	T	0.69040	-0.37	1.76	0.409	0.16382	.	.	.	.	.	T	0.45256	0.1333	N	0.19112	0.55	0.19775	N	0.999959	B	0.11235	0.004	B	0.12156	0.007	T	0.25187	-1.0139	9	0.32370	T	0.25	.	4.3948	0.11358	0.646:0.354:0.0:0.0	.	946	Q2VIQ3	KIF4B_HUMAN	T	946	ENSP00000387875:K946T	ENSP00000387875:K946T	K	+	2	0	KIF4B	154376449	0.117000	0.22190	0.947000	0.38551	0.123000	0.20343	-0.038000	0.12144	0.102000	0.17638	0.455000	0.32223	AAG	.		0.488	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			C	154396256	A	C	154396256	3	2	19	1	0	0	0	0	1	0	0	0	8331	72	3	4	2839	4	KIF4B	5	154396256	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	13879370	154396256	26519004	65	2580											
NPM1	4869	hgsc.bcm.edu	37	5	170819801	170819801	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:170819801G>T	ENST00000296930.5	+	5	741	c.440G>T	c.(439-441)gGt>gTt	p.G147V	NPM1_ENST00000351986.6_Missense_Mutation_p.G147V|NPM1_ENST00000517671.1_Missense_Mutation_p.G147V|NPM1_ENST00000393820.2_Missense_Mutation_p.G147V	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	147	Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.G147D(2)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCCTGGAGGTGGTAGCAAG	0.408			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																p.G147V		.		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	NPM1_ENST00000393820,NS,carcinoma,0,2	NPM1_ENST00000393820	0	2	Substitution - Missense(2)	lung(2)	c.G440T						.						131	154	146					5																	170819801		2202	4300	6502	SO:0001583	missense	4869	exon5			CTGGAGGTGGTAG	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.440G>T	5.37:g.170819801G>T	ENSP00000296930:p.Gly147Val	44	0		53	3	NM_199185	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	G	9.431	1.085506	0.20390	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000521672;ENST00000351986;ENST00000393820	T;T;T;T	0.46451	0.93;0.93;0.87;0.89	3.73	1.29	0.21616	.	1.477350	0.05053	U	0.478499	T	0.40272	0.1110	L	0.49126	1.545	0.42686	D	0.993564	B;B;B	0.15473	0.002;0.013;0.003	B;B;B	0.26693	0.018;0.072;0.021	T	0.24012	-1.0172	10	0.34782	T	0.22	.	8.1015	0.30859	0.0:0.3604:0.4553:0.1843	.	147;147;147	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	V	147;147;83;147;147	ENSP00000428755:G147V;ENSP00000296930:G147V;ENSP00000341168:G147V;ENSP00000377408:G147V	ENSP00000296930:G147V	G	+	2	0	NPM1	170752406	0.996000	0.38824	0.999000	0.59377	0.986000	0.74619	1.202000	0.32271	0.664000	0.31047	0.484000	0.47621	GGT	.		0.408	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		T	170819801	G	T	170819801	3	4	19	1	0	0	0	0	1	0	0	0	10626	1261	44	3	458	3	NPM1	5	170819801	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	16423545	170819801	10095459	66	2581											
NSD1	64324	broad.mit.edu	37	5	176721680	176721680	+	Silent	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:176721680A>G	ENST00000439151.2	+	23	7356	c.7311A>G	c.(7309-7311)aaA>aaG	p.K2437K	NSD1_ENST00000347982.4_Silent_p.K2168K|NSD1_ENST00000354179.4_Silent_p.K2168K|NSD1_ENST00000361032.4_Silent_p.K2334K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2437					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)		CTAAAGAAAAAGCACTGAGGC	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.K2437K				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1	416	0			c.A7311G						.						52	58	56					5																	176721680		2203	4300	6503	SO:0001819	synonymous_variant	64324	exon23	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AGAAAAAGCACTG	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.7311A>G	5.37:g.176721680A>G		30	0		35	3	NM_022455	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																			.		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		G	176721680	A	G	176721680	2	3	19	1	0	0	0	0	0	0	0	1	10708	69	3	4		4	NSD1	5	176721680	Silent	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	5901879	176721680	4193580	67	2582											
RUFY1	80230	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	179007944	179007948	+	Splice_Site	DEL	AAAGG	AAAGG	-			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	AAAGG	AAAGG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr5:179007944_179007948delAAAGG	ENST00000319449.4	+	7	902_903	c.890_891delAAAGG	c.(889-891)gaa>g	p.E297fs	RUFY1_ENST00000437570.2_Splice_Site_p.E189fs|RUFY1_ENST00000393438.2_Splice_Site_p.E189fs|RUFY1_ENST00000377001.2_Splice_Site_p.E297fs	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	297					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)			GCTCCTTTTAAAAGGCATGAAAGAA	0.327										HNSCC(44;0.11)																											.		.											.	.	.	0			.						.																																			SO:0001630	splice_region_variant	80230	.			CTTTTAAAAGGCA	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.891-1AAAGG>-	5.37:g.179007944_179007948delAAAGG		72	0		108	11	.	Q59FF3|Q71S93|Q9H6I3	Splice_Site	DEL	ENST00000319449.4	37	CCDS4445.2																																																																																			.		0.327	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	Frame_Shift_Del	-	179007948	AAAGG	-	179007944	8	5	19	1	0	1	0	1	0	0	1	0	13783	29	1	0		0	RUFY1	5	179007944	Splice_Site	DEL	AAAGG	TCGA-W5-AA30-01A-31D-A417-09	2286264	179007944	1907316	68	2583											
ZNF184	7738	broad.mit.edu	37	6	27420368	27420368	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr6:27420368G>T	ENST00000211936.6	-	6	1254	c.970C>A	c.(970-972)Cat>Aat	p.H324N	ZNF184_ENST00000377419.1_Missense_Mutation_p.H324N	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	324					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						ATTCTCTGATGCTGAACAAGA	0.398																																					p.H324N													.	ZNF184	89	0			c.C970A						.						51	52	52					6																	27420368		2203	4300	6503	SO:0001583	missense	7738	exon6			TCTGATGCTGAAC	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.970C>A	6.37:g.27420368G>T	ENSP00000211936:p.His324Asn	47	0		52	4	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149936	0.57151	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	D;D	0.86865	-2.18;-2.18	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000156	D	0.94683	0.8285	H	0.96576	3.845	0.36536	D	0.871022	D	0.89917	1.0	D	0.91635	0.999	D	0.95530	0.8602	10	0.87932	D	0	.	10.7451	0.46177	0.0:0.0:0.8102:0.1898	.	324	Q99676	ZN184_HUMAN	N	324;324;324;12	ENSP00000211936:H324N;ENSP00000366636:H324N	ENSP00000211936:H324N	H	-	1	0	ZNF184	27528347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.402000	0.79972	2.660000	0.90430	0.557000	0.71058	CAT	.		0.398	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		T	27420368	G	T	27420368	3	4	19	1	0	0	0	0	1	0	0	0	17799	1319	46	3	1289	3	ZNF184	6	27420368	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		27420368	143694699	69	2584											
TRERF1	55809	hgsc.bcm.edu	37	6	42196196	42196196	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr6:42196196C>T	ENST00000372922.4	-	18	4052	c.3490G>A	c.(3490-3492)Gac>Aac	p.D1164N	TRERF1_ENST00000354325.2_Missense_Mutation_p.D1081N|TRERF1_ENST00000541110.1_Missense_Mutation_p.D1184N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1093N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1093N	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1164	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)	p.D1164N(1)		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)			ACGACGTCGTCGTCGAGGATG	0.577																																					p.D1164N		.											TRERF1,colon,carcinoma,+1,2	TRERF1	+1	1	Substitution - Missense(1)	ovary(1)	c.G3490A						.						150	143	145					6																	42196196		2203	4300	6503	SO:0001583	missense	55809	exon18			CGTCGTCGTCGAG	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.3490G>A	6.37:g.42196196C>T	ENSP00000362013:p.Asp1164Asn	18	0		30	3	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803405	0.50315	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12879	2.82;2.64;2.84;2.64;2.64	5.78	4.89	0.63831	.	0.529823	0.18083	N	0.152222	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B;B;B;B;P	0.51791	0.013;0.007;0.007;0.013;0.948	B;B;B;B;B	0.42771	0.003;0.001;0.001;0.003;0.397	T	0.28138	-1.0053	10	0.37606	T	0.19	-4.353	7.4591	0.27285	0.0:0.7183:0.1413:0.1405	.	1081;1184;1164;920;932	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	N	1184;1093;1164;1093;1081	ENSP00000439689:D1184N;ENSP00000362008:D1093N;ENSP00000362013:D1164N;ENSP00000339438:D1093N;ENSP00000346285:D1081N	ENSP00000339438:D1093N	D	-	1	0	TRERF1	42304174	0.038000	0.19896	0.003000	0.11579	0.602000	0.36980	2.109000	0.41863	1.411000	0.46957	0.563000	0.77884	GAC	.		0.577	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		T	42196196	C	T	42196196	3	4	19	1	0	0	0	0	1	0	0	0	16523	884	31	1	116	1	TRERF1	6	42196196	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	14775828	42196196	128918871	70	2585											
HIVEP2	3097	hgsc.bcm.edu	37	6	143091902	143091902	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr6:143091902G>T	ENST00000367604.1	-	4	4613	c.3974C>A	c.(3973-3975)tCt>tAt	p.S1325Y	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1325Y|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1325Y			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTGCAAAGACCCAGCATT	0.488																																					p.S1325Y	Esophageal Squamous(107;843 1510 13293 16805 42198)	.											HIVEP2,NS,carcinoma,0,1	HIVEP2	0	0			c.C3974A						.						80	82	81					6																	143091902		1907	4132	6039	SO:0001583	missense	3097	exon5			TGCAAAGACCCAG	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3974C>A	6.37:g.143091902G>T	ENSP00000356576:p.Ser1325Tyr	24	0		12	2	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199856	0.38905	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02552	4.25;4.25;4.25	6.08	6.08	0.98989	.	0.253885	0.47455	D	0.000233	T	0.02688	0.0081	L	0.53249	1.67	0.09310	N	0.999999	P	0.36789	0.57	B	0.36885	0.235	T	0.21999	-1.0229	10	0.87932	D	0	-3.0365	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1325	P31629	ZEP2_HUMAN	Y	1325	ENSP00000356576:S1325Y;ENSP00000356575:S1325Y;ENSP00000012134:S1325Y	ENSP00000012134:S1325Y	S	-	2	0	HIVEP2	143133595	1.000000	0.71417	0.194000	0.23346	0.671000	0.39405	6.510000	0.73729	2.894000	0.99253	0.655000	0.94253	TCT	.		0.488	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			T	143091902	G	T	143091902	3	4	19	1	0	0	0	0	1	0	0	0	7214	942	33	3	3390	3	HIVEP2	6	143091902	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	100895706	143091902	28023165	71	2586											
OPRM1	4988	bcgsc.ca	37	6	154360621	154360621	+	5'UTR	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr6:154360621G>A	ENST00000330432.7	+	0	179				OPRM1_ENST00000434900.2_Missense_Mutation_p.R74Q|OPRM1_ENST00000419506.2_5'Flank|OPRM1_ENST00000428397.2_5'UTR|OPRM1_ENST00000337049.4_5'Flank|OPRM1_ENST00000435918.2_5'Flank|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000229768.5_5'Flank|OPRM1_ENST00000524163.1_5'Flank|OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000414028.2_5'Flank|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000523520.1_3'UTR	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)	CTTGGAACCCGAAAAGTCTCG	0.632																																					p.R74Q													.	OPRM1	241	0			c.G221A						.						48	63	58					6																	154360621		692	1591	2283	SO:0001623	5_prime_UTR_variant	4988	exon3			GAACCCGAAAAGT	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.-59G>A	6.37:g.154360621G>A		39	0		53	4	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	14.74	2.626757	0.46840	.	.	ENSG00000112038	ENST00000520282;ENST00000434900	T;T	0.71103	3.86;-0.54	4.75	-0.621	0.11564	.	4.366230	0.00824	N	0.001608	T	0.26340	0.0643	N	0.08118	0	0.18873	N	0.999987	B	0.26708	0.157	B	0.14578	0.011	T	0.08597	-1.0714	10	0.26408	T	0.33	.	9.1623	0.37030	0.0728:0.0:0.3123:0.6149	.	74	P35372-10	.	Q	29;74	ENSP00000430247:R29Q;ENSP00000394624:R74Q	ENSP00000394624:R74Q	R	+	2	0	OPRM1	154402314	0.004000	0.15560	0.002000	0.10522	0.426000	0.31534	0.596000	0.24044	-0.229000	0.09854	0.650000	0.86243	CGA	.		0.632	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		A	154360621	G	A	154360621	1	1	19	0	1	0	0	0	0	0	0	0	10926	1058	37	1		1	OPRM1	6	154360621	5'UTR	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	11268719	154360621	16754446	72	2587											
SDK1	221935	hgsc.bcm.edu	37	7	3678685	3678685	+	Missense_Mutation	SNP	G	G	A	rs549922689		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:3678685G>A	ENST00000404826.2	+	3	647	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	SDK1_ENST00000389531.3_Missense_Mutation_p.V170M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	170	Ig-like C2-type 1.				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)		TTACCGCTGCGTGGTGCGAAA	0.408													G|||	1	0.000199681	0	0.0014	5008	,	,		17665	0		0	False		,,,				2504	0				p.V170M		.											SDK1,colon,carcinoma,0,1	SDK1	0	0			c.G508A						.						79	69	72					7																	3678685		2203	4300	6503	SO:0001583	missense	221935	exon3			CGCTGCGTGGTGC	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.508G>A	7.37:g.3678685G>A	ENSP00000385899:p.Val170Met	28	0		35	2	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697881	0.48307	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.12361	2.69;2.69	4.89	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.203960	0.24628	N	0.036912	T	0.24774	0.0601	L	0.56280	1.765	0.31490	N	0.666094	D	0.64830	0.994	P	0.58780	0.845	T	0.12837	-1.0532	10	0.52906	T	0.07	.	9.4304	0.38606	0.1726:0.0:0.8274:0.0	.	170	Q7Z5N4	SDK1_HUMAN	M	170	ENSP00000385899:V170M;ENSP00000374182:V170M	ENSP00000374182:V170M	V	+	1	0	SDK1	3645211	0.902000	0.30710	0.971000	0.41717	0.995000	0.86356	1.310000	0.33551	1.165000	0.42670	0.563000	0.77884	GTG	.		0.408	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	3678685	G	A	3678685	3	1	19	1	0	0	0	0	1	0	0	0	14013	1145	40	1	518	1	SDK1	7	3678685	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		3678685	155459978	73	2588											
FERD3L	222894	hgsc.bcm.edu	37	7	19184746	19184746	+	Silent	SNP	C	C	T	rs34966908|rs199985178|rs71017023	byFrequency	TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:19184746C>T	ENST00000275461.3	-	1	298	c.240G>A	c.(238-240)gaG>gaA	p.E80E	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	80	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E81_R82insE(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ttccgcgctcctcttcctcct	0.622																																					p.E80E		.											.,2	.	63	1	Insertion - In frame(1)	ovary(1)	c.G240A						.						72	54	60					7																	19184746		2203	4300	6503	SO:0001819	synonymous_variant	222894	exon1			GCGCTCCTCTTCC	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.240G>A	7.37:g.19184746C>T		14	1		17	0	NM_152898	Q495K0	Silent	SNP	ENST00000275461.3	37	CCDS5368.1																																																																																			.		0.622	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			T	19184746	C	T	19184746	2	4	19	1	0	0	0	0	0	0	0	1	5838	680	24	3		3	FERD3L	7	19184746	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	15506061	19184746	139953917	74	2589											
ZNF716	441234	hgsc.bcm.edu;bcgsc.ca	37	7	57528453	57528453	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:57528453G>T	ENST00000420713.1	+	4	398	c.286G>T	c.(286-288)Gac>Tac	p.D96Y		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	96					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(1)|lung(20)|ovary(2)	24						TTTCACCCAAGACCTTCAGTC	0.328																																					p.D96Y		.											ZNF716_ENST00000420713,NS,carcinoma,0,2	ZNF716_ENST00000420713	0	0			c.G286T						.						62	61	62					7																	57528453		692	1591	2283	SO:0001583	missense	441234	exon4			ACCCAAGACCTTC	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.286G>T	7.37:g.57528453G>T	ENSP00000394248:p.Asp96Tyr	54	0		78	4	NM_001159279		Missense_Mutation	SNP	ENST00000420713.1	37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.947001	0.18356	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05786	3.39	0.195	0.195	0.15151	.	.	.	.	.	T	0.13927	0.0337	M	0.67569	2.06	0.09310	N	0.99999	D	0.71674	0.998	P	0.60173	0.87	T	0.15065	-1.0450	9	0.59425	D	0.04	.	2.6947	0.05130	0.4409:0.0:0.5591:0.0	.	84	A6NP11	ZN716_HUMAN	Y	96;84	ENSP00000394248:D96Y	ENSP00000387687:D84Y	D	+	1	0	ZNF716	57532395	0.000000	0.05858	0.055000	0.19348	0.056000	0.15407	-0.062000	0.11674	0.300000	0.22699	0.306000	0.20318	GAC	.		0.328	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		T	57528453	G	T	57528453	3	4	19	1	0	0	0	0	1	0	0	0	18167	942	33	3	300	3	ZNF716	7	57528453	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	38343707	57528453	101610210	75	2590											
GTF2I	2969	broad.mit.edu	37	7	74148279	74148279	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:74148279A>G	ENST00000324896.4	+	16	1708	c.1319A>G	c.(1318-1320)aAt>aGt	p.N440S	GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|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													GTF2I,NS,carcinoma,0,7	GTF2I	40	7	Substitution - Missense(7)	endometrium(7)	c.A1319G						.						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	259	1		258	5	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	.		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	19	1	0	0	0	0	1	0	0	0	6894	101	4	4	1377	4	GTF2I	7	74148279	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	16619826	74148279	84990384	76	2591											
TECPR1	25851	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	97852437	97852437	+	Silent	SNP	G	G	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:97852437G>C	ENST00000447648.2	-	21	3092	c.2793C>G	c.(2791-2793)ccC>ccG	p.P931P	TECPR1_ENST00000379795.3_Silent_p.P933P|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	931					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						TGAGGGCGATGGGGGGCACCT	0.672																																					p.P931P		.											.,1	.	77	0			c.C2793G						.						20	26	24					7																	97852437		2014	4158	6172	SO:0001819	synonymous_variant	25851	exon21			GGCGATGGGGGGC		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.2793C>G	7.37:g.97852437G>C		25	0		31	13	NM_015395	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																			.		0.672	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		C	97852437	G	C	97852437	2	2	19	1	0	0	0	0	0	0	0	1	15790	1335	47	5		5	TECPR1	7	97852437	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	23704158	97852437	61286226	77	2592											
RELN	5649	hgsc.bcm.edu	37	7	103124180	103124180	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:103124180G>A	ENST00000428762.1	-	62	10260	c.10101C>T	c.(10099-10101)aaC>aaT	p.N3367N	RELN_ENST00000343529.5_Silent_p.N3367N|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.N3367N|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'UTR	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3367					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)		AGGTGATCCCGTTGTTGACGC	0.552																																					p.N3367N	NSCLC(146;835 1944 15585 22231 52158)	.											RELN,NS,carcinoma,0,1	RELN	0	0			c.C10101T						.						241	201	215					7																	103124180		2203	4300	6503	SO:0001819	synonymous_variant	5649	exon62			GATCCCGTTGTTG		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.10101C>T	7.37:g.103124180G>A		28	1		28	2	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			.		0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103124180	G	A	103124180	2	1	19	1	0	0	0	0	0	0	0	1	13265	1136	40	1		1	RELN	7	103124180	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5271743	103124180	56014483	78	2593											
CLEC2L	154790	hgsc.bcm.edu	37	7	139225079	139225079	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:139225079G>A	ENST00000422142.2	+	3	350	c.278G>A	c.(277-279)tGc>tAc	p.C93Y		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	93						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					TCCAAGGGCTGCATCAAGTGC	0.637																																					p.C93Y		.											.	.	.	0			c.G278A						.						16	19	18					7																	139225079		1936	4127	6063	SO:0001583	missense	154790	exon3			AGGGCTGCATCAA	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.278G>A	7.37:g.139225079G>A	ENSP00000390661:p.Cys93Tyr	34	0		66	4	NM_001080511		Missense_Mutation	SNP	ENST00000422142.2	37	CCDS47724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.00|18.00	3.524940|3.524940	0.64747|0.64747	.|.	.|.	ENSG00000236279|ENSG00000236279	ENST00000521281|ENST00000422142	.|T	.|0.16597	.|2.33	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|.	.|.	.|.	.|.	T|T	0.26955|0.26955	0.0660|0.0660	L|L	0.38838|0.38838	1.175|1.175	0.35099|0.35099	D|D	0.765|0.765	.|D	.|0.69078	.|0.997	.|D	.|0.64776	.|0.929	T|T	0.15896|0.15896	-1.0421|-1.0421	5|9	.|0.18710	.|T	.|0.47	-9.9835|-9.9835	13.3746|13.3746	0.60730|0.60730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|93	.|P0C7M8	.|CLC2L_HUMAN	T|Y	17|93	.|ENSP00000390661:C93Y	.|ENSP00000390661:C93Y	A|C	+|+	1|2	0|0	CLEC2L|CLEC2L	138875619|138875619	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.890000|0.890000	0.51754|0.51754	2.876000|2.876000	0.48498|0.48498	2.200000|2.200000	0.70718|0.70718	0.563000|0.563000	0.77884|0.77884	GCA|TGC	.		0.637	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	NM_001080511		A	139225079	G	A	139225079	3	1	19	1	0	0	0	0	1	0	0	0	3516	1319	46	3	288	3	CLEC2L	7	139225079	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	36100899	139225079	19913584	79	2594											
MLL3	58508	hgsc.bcm.edu	37	7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:151921114A>T	ENST00000262189.6	-	20	3527	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C1103*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1103					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.C1103*(10)									CACATTGTCTACATTGCAGAA	0.338																																					p.C1103X		.											MLL3_ENST00000355193,NS,carcinoma,0,10	MLL3_ENST00000355193	0	10	Substitution - Nonsense(10)	kidney(6)|endometrium(4)	c.T3309A						.						56	51	52					7																	151921114		2203	4300	6503	SO:0001587	stop_gained	58508	exon20			TTGTCTACATTGC	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.3309T>A	7.37:g.151921114A>T	ENSP00000262189:p.Cys1103*	93	1		74	3	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	41	8.814636	0.98964	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	-2.79	0.05841	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2367	0.59972	0.4373:0.0:0.5627:0.0	rs4024337	.	.	.	X	1103	.	ENSP00000262189:C1103X	C	-	3	2	MLL3	151552047	0.735000	0.28153	0.983000	0.44433	0.992000	0.81027	-0.154000	0.10130	-0.431000	0.07307	0.528000	0.53228	TGT	.		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151921114	A	T	151921114	4	4	19	1	0	0	0	0	0	1	0	0	9660	389	14	5	11586	5	MLL3	7	151921114	Nonsense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	12696035	151921114	7217549	80	2595											
ACTR3B	57180	ucsc.edu	37	7	152497656	152497656	+	Silent	SNP	T	T	C	rs201991209		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr7:152497656T>C	ENST00000256001.8	+	3	275	c.141T>C	c.(139-141)gcT>gcC	p.A47A	ACTR3B_ENST00000377776.3_Silent_p.A47A|ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	47						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)		TTGACCAAGCTCAAAGGAGAG	0.383																																					p.A47A													ACTR3B,NS,carcinoma,+1,1	ACTR3B	50	0			c.T141C						.						134	124	128					7																	152497656		2203	4300	6503	SO:0001819	synonymous_variant	57180	exon3			CCAAGCTCAAAGG		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.141T>C	7.37:g.152497656T>C		57	1		68	10	NM_020445	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	CCDS5934.1																																																																																			.		0.383	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		C	152497656	T	C	152497656	2	2	19	1	0	0	0	0	0	0	0	1	213	1538	54	4		4	ACTR3B	7	152497656	Silent	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	576542	152497656	6641007	81	2596											
CSMD1	64478	hgsc.bcm.edu	37	8	3265726	3265726	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr8:3265726G>T	ENST00000520002.1	-	15	2324	c.1769C>A	c.(1768-1770)aCg>aAg	p.T590K	CSMD1_ENST00000537824.1_Missense_Mutation_p.T589K|CSMD1_ENST00000602723.1_Missense_Mutation_p.T590K|CSMD1_ENST00000539096.1_Missense_Mutation_p.T589K|CSMD1_ENST00000400186.3_Missense_Mutation_p.T590K|CSMD1_ENST00000542608.1_Missense_Mutation_p.T589K|CSMD1_ENST00000602557.1_Missense_Mutation_p.T590K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	590	CUB 4. {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)		AGATGATGCCGTAAAGTTGAA	0.383																																					p.T589K		.											CSMD1_ENST00000537824,NS,carcinoma,0,2	CSMD1_ENST00000537824	0	0			c.C1766A						.						22	19	20					8																	3265726		1860	4112	5972	SO:0001583	missense	64478	exon14			GATGCCGTAAAGT			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.1769C>A	8.37:g.3265726G>T	ENSP00000430733:p.Thr590Lys	43	0		35	2	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.816088|4.816088	0.90790|0.90790	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.38401|.	1.14;1.14;1.14;1.14;1.14|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78868|.	0.4351|.	M|M	0.81614|0.81614	2.55|2.55	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.80072|.	-0.1535|.	10|.	0.46703|.	T|.	0.11|.	.|.	18.7996|18.7996	0.92010|0.92010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	590|.	E5RIG2|.	.|.	K|X	590;590;452;589;589;589|69	ENSP00000383047:T590K;ENSP00000430733:T590K;ENSP00000441462:T589K;ENSP00000446243:T589K;ENSP00000441675:T589K|.	ENSP00000320445:T452K|.	T|Y	-|-	2|3	0|2	CSMD1|CSMD1	3253133|3253133	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.984000|0.984000	0.73092|0.73092	9.602000|9.602000	0.98312|0.98312	2.437000|2.437000	0.82529|0.82529	0.467000|0.467000	0.42956|0.42956	ACG|TAC	.		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3265726	G	T	3265726	3	4	19	1	0	0	0	0	1	0	0	0	3953	1145	40	2	9156	2	CSMD1	8	3265726	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		3265726	143098296	82	2597											
PRKDC	5591	hgsc.bcm.edu	37	8	48842481	48842481	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr8:48842481G>T	ENST00000314191.2	-	18	2040	c.1984C>A	c.(1984-1986)Ctc>Atc	p.L662I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L662I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	662					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCACTGATGAGGGGCAACCTT	0.348								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	.	.	0			.						.						66	65	65					8																	48842481		1803	4068	5871	SO:0001583	missense	5591	p.L662I			TGATGAGGGGCAA		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1984C>A	8.37:g.48842481G>T	ENSP00000313420:p.Leu662Ile	74	0		67	3	.	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.298861	0.81025	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.04234	3.73;3.67	5.54	5.54	0.83059	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.16811	0.0404	.	.	.	0.58432	D	0.999996	D;D;D	0.63046	0.992;0.987;0.987	P;P;P	0.58928	0.848;0.708;0.708	T	0.00024	-1.2328	9	0.87932	D	0	.	13.7514	0.62910	0.0737:0.0:0.9263:0.0	.	662;662;662	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	I	662	ENSP00000313420:L662I;ENSP00000345182:L662I	ENSP00000313420:L662I	L	-	1	0	PRKDC	49005034	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	5.426000	0.66476	2.608000	0.88229	0.467000	0.42956	CTC	.		0.348	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48842481	G	T	48842481	3	4	19	1	0	0	0	0	1	0	0	0	12563	1000	35	3	10677	3	PRKDC	8	48842481	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	45576755	48842481	97521541	83	2598											
BAI1	575	hgsc.bcm.edu;bcgsc.ca	37	8	143558848	143558848	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr8:143558848G>T	ENST00000517894.1	+	6	2219	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	BAI1_ENST00000323289.5_Missense_Mutation_p.G442V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	442	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)					CCCCAGTTTGGGGGCAACCCC	0.657																																					p.G442V		.											.	.	.	0			c.G1325T						.						44	52	49					8																	143558848		1981	4153	6134	SO:0001583	missense	575	exon5			AGTTTGGGGGCAA	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.1325G>T	8.37:g.143558848G>T	ENSP00000430945:p.Gly442Val	37	0		50	4	NM_001702		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.511245	0.85389	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.63744	-0.06;-0.06	4.18	4.18	0.49190	.	0.072231	0.56097	U	0.000040	T	0.81418	0.4818	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85834	0.1393	10	0.87932	D	0	.	15.816	0.78599	0.0:0.0:1.0:0.0	.	442	E9PBK0	.	V	442	ENSP00000430945:G442V;ENSP00000313046:G442V	ENSP00000313046:G442V	G	+	2	0	BAI1	143555850	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.592000	0.98245	2.000000	0.58554	0.491000	0.48974	GGG	.		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143558848	G	T	143558848	3	4	19	1	0	0	0	0	1	0	0	0	1299	1232	43	3	1343	3	BAI1	8	143558848	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	94716367	143558848	2805174	84	2599											
DOCK8	81704	hgsc.bcm.edu	37	9	428485	428485	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr9:428485C>G	ENST00000453981.1	+	35	4574	c.4462C>G	c.(4462-4464)Ctc>Gtc	p.L1488V	DOCK8_ENST00000469391.1_Missense_Mutation_p.L1388V|DOCK8_ENST00000382329.1_Missense_Mutation_p.L955V|DOCK8_ENST00000432829.2_Missense_Mutation_p.L1420V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1488					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)	p.L1488V(1)|p.L1420V(1)		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)		ACTCCGTGCTCTCATCGCCAA	0.463																																					p.L1488V		.											DOCK8_ENST00000453981,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	DOCK8_ENST00000453981	0	2	Substitution - Missense(2)	central_nervous_system(2)	c.C4462G						.						134	109	118					9																	428485		2203	4300	6503	SO:0001583	missense	81704	exon35			CGTGCTCTCATCG	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.4462C>G	9.37:g.428485C>G	ENSP00000408464:p.Leu1488Val	19	0		12	2	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	28.4	4.920604	0.92249	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83312	0.5227	M	0.87758	2.905	0.80722	D	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.60949	0.881;0.844;0.881	D	0.84576	0.0658	10	0.51188	T	0.08	.	19.713	0.96103	0.0:1.0:0.0:0.0	.	1388;955;1488	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	V	1488;1456;1420;1388;955	ENSP00000408464:L1488V;ENSP00000394888:L1420V;ENSP00000419438:L1388V;ENSP00000371766:L955V	ENSP00000287364:L1456V	L	+	1	0	DOCK8	418485	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.887000	0.69751	2.648000	0.89879	0.650000	0.86243	CTC	.		0.463	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		G	428485	C	G	428485	3	3	19	1	0	0	0	0	1	0	0	0	4707	913	32	5	4600	5	DOCK8	9	428485	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		428485	140784946	85	2600											
DAPK1	1612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	90254352	90254352	+	Missense_Mutation	SNP	C	C	G	rs369801129		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr9:90254352C>G	ENST00000408954.3	+	5	842	c.507C>G	c.(505-507)gaC>gaG	p.D169E	DAPK1_ENST00000472284.1_Missense_Mutation_p.D169E|DAPK1_ENST00000469640.2_Missense_Mutation_p.D169E|DAPK1_ENST00000358077.5_Missense_Mutation_p.D169E|DAPK1_ENST00000491893.1_Missense_Mutation_p.D169E	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	169	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						ATAAAATTGACTTTGGAAATG	0.373									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.D169E		.											.	.	.	0			c.C507G						.	C	GLU/ASP	1,3629		0,1,1814	103	99	101		507	4.2	1	9		101	0,8146		0,0,4073	no	missense	DAPK1	NM_004938.2	45	0,1,5887	GG,GC,CC		0.0,0.0275,0.0085	benign	169/1431	90254352	1,11775	1815	4073	5888	SO:0001583	missense	1612	exon5	Familial Cancer Database	Familial CLL	AATTGACTTTGGA	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.507C>G	9.37:g.90254352C>G	ENSP00000386135:p.Asp169Glu	62	0		61	9	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	3.699	-0.061993	0.07317	2.75E-4	0.0	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.12	4.22	0.49857	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	0.000041	T	0.43853	0.1266	N	0.25144	0.715	0.54753	D	0.999985	B;B;B	0.17852	0.002;0.001;0.024	B;B;B	0.19391	0.025;0.005;0.024	T	0.27054	-1.0085	10	0.07990	T	0.79	.	11.9098	0.52733	0.0:0.8542:0.0:0.1458	.	169;169;169	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	E	169	ENSP00000350785:D169E;ENSP00000417076:D169E;ENSP00000418885:D169E;ENSP00000386135:D169E;ENSP00000419026:D169E	ENSP00000350785:D169E	D	+	3	2	DAPK1	89444172	0.529000	0.26322	1.000000	0.80357	0.987000	0.75469	-0.226000	0.09139	1.512000	0.48834	0.563000	0.77884	GAC	.		0.373	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		G	90254352	C	G	90254352	3	3	19	1	0	0	0	0	1	0	0	0	4244	564	20	5	521	5	DAPK1	9	90254352	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	89825867	90254352	50959079	86	2601											
WNK2	65268	hgsc.bcm.edu;bcgsc.ca	37	9	96070761	96070761	+	Silent	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr9:96070761G>T	ENST00000297954.4	+	28	6522	c.6522G>T	c.(6520-6522)gtG>gtT	p.V2174V	WNK2_ENST00000349097.3_Silent_p.V1786V|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000427277.2_Silent_p.V1749V|WNK2_ENST00000395477.2_Silent_p.V2137V|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2174					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						GCAAGACGGTGGGGGCCGCGC	0.647																																					p.V2137V		.											.	.	.	0			c.G6411T						.						82	55	64					9																	96070761		2199	4296	6495	SO:0001819	synonymous_variant	65268	exon27			GACGGTGGGGGCC	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.6522G>T	9.37:g.96070761G>T		28	0		31	4	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.898|8.898	0.955697|0.955697	0.18507|0.18507	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	5.37|5.37	-1.1|-1.1	0.09872|0.09872	.|.	.|.	.|.	.|.	.|.	T|T	0.39306|0.39306	0.1073|0.1073	.|.	.|.	.|.	0.50039|0.50039	D|D	0.999843|0.999843	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25047|0.25047	-1.0143|-1.0143	4|4	.|.	.|.	.|.	.|.	1.0116|1.0116	0.01498|0.01498	0.1876:0.1884:0.3117:0.3123|0.1876:0.1884:0.3117:0.3123	.|.	.|.	.|.	.|.	W|L	1629|2133;934;611	.|.	.|.	G|W	+|+	1|2	0|0	WNK2|WNK2	95110582|95110582	0.661000|0.661000	0.27430|0.27430	0.233000|0.233000	0.24025|0.24025	0.996000|0.996000	0.88848|0.88848	-0.079000|-0.079000	0.11357|0.11357	-0.227000|-0.227000	0.09884|0.09884	0.655000|0.655000	0.94253|0.94253	GGG|TGG	.		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96070761	G	T	96070761	2	4	19	1	0	0	0	0	0	0	0	1	17427	1335	47	3		3	WNK2	9	96070761	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5816409	96070761	45142670	87	2602											
SORBS1	10580	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	97106174	97106174	+	Silent	SNP	A	A	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr10:97106174A>C	ENST00000361941.3	-	24	2444	c.2418T>G	c.(2416-2418)gcT>gcG	p.A806A	SORBS1_ENST00000353505.5_Silent_p.A657A|SORBS1_ENST00000371245.3_Silent_p.A657A|SORBS1_ENST00000277982.5_Silent_p.A828A|SORBS1_ENST00000347291.4_Silent_p.A618A|SORBS1_ENST00000371227.4_Silent_p.A760A|SORBS1_ENST00000607232.1_Silent_p.A1066A|SORBS1_ENST00000371241.1_Silent_p.A456A|SORBS1_ENST00000371246.2_Silent_p.A828A|SORBS1_ENST00000393949.1_Silent_p.A776A|SORBS1_ENST00000306402.6_Silent_p.A553A|SORBS1_ENST00000354106.3_Silent_p.A776A|SORBS1_ENST00000371249.2_Silent_p.A588A|SORBS1_ENST00000371239.1_Silent_p.A583A|SORBS1_ENST00000371247.2_Silent_p.A806A|SORBS1_ENST00000474353.2_5'UTR	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)		TTAGTGTCTGAGCTTTAAAGT	0.348																																					p.A828A		.											.	.	.	0			c.T2484G						.						85	84	84					10																	97106174		2203	4300	6503	SO:0001819	synonymous_variant	10580	exon24			TGTCTGAGCTTTA	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.2418T>G	10.37:g.97106174A>C		31	0		39	14	NM_001034955		Silent	SNP	ENST00000361941.3	37	CCDS31255.1																																																																																			.		0.348	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			C	97106174	A	C	97106174	2	2	19	1	0	0	0	0	0	0	0	1	14972	291	11	4		4	SORBS1	10	97106174	Silent	SNP	A	TCGA-W5-AA30-01A-31D-A417-09		97106174	38428573	88	2603											
TM9SF3	56889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	98292847	98292847	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr10:98292847C>T	ENST00000371142.4	-	10	1502	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	429						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)		AGCATTGACACGACAAGGAAA	0.398																																					p.R429H		.											.	.	.	0			c.G1286A						.						152	138	143					10																	98292847		2203	4300	6503	SO:0001583	missense	56889	exon10			TTGACACGACAAG	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.1286G>A	10.37:g.98292847C>T	ENSP00000360184:p.Arg429His	73	0		81	20	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	36	5.642088	0.96704	.	.	ENSG00000077147	ENST00000371142	T	0.53206	0.63	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81695	-0.0816	10	0.87932	D	0	-9.5478	18.6637	0.91481	0.0:1.0:0.0:0.0	.	429	Q9HD45	TM9S3_HUMAN	H	429	ENSP00000360184:R429H	ENSP00000360184:R429H	R	-	2	0	TM9SF3	98282837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.652000	0.90054	0.563000	0.77884	CGT	.		0.398	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		T	98292847	C	T	98292847	3	4	19	1	0	0	0	0	1	0	0	0	16026	536	19	1	507	1	TM9SF3	10	98292847	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	1186673	98292847	37241900	89	2604											
WDR11	55717	hgsc.bcm.edu	37	10	122661797	122661797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr10:122661797G>T	ENST00000263461.6	+	22	2962	c.2716G>T	c.(2716-2718)Gaa>Taa	p.E906*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				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.E906*(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						GCTTGATCCAGAATTCACTCT	0.358																																					p.E906X		.											WDR11,NS,carcinoma,0,1	WDR11	0	1	Substitution - Nonsense(1)	kidney(1)	c.G2716T						.						104	100	102					10																	122661797		2203	4300	6503	SO:0001587	stop_gained	55717	exon22			GATCCAGAATTCA	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.2716G>T	10.37:g.122661797G>T	ENSP00000263461:p.Glu906*	79	1		59	3	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	42	9.407145	0.99161	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.77	5.77	0.91146	.	0.141517	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-13.5085	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	X	906	.	ENSP00000263461:E906X	E	+	1	0	WDR11	122651787	1.000000	0.71417	0.972000	0.41901	0.959000	0.62525	6.435000	0.73412	2.884000	0.98904	0.655000	0.94253	GAA	.		0.358	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			T	122661797	G	T	122661797	4	4	19	1	0	0	0	0	0	1	0	0	17322	943	33	3	2802	3	WDR11	10	122661797	Nonsense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	24368950	122661797	12872950	90	2605											
PTPRE	5791	hgsc.bcm.edu	37	10	129875976	129875976	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr10:129875976G>T	ENST00000254667.3	+	19	2100	c.1821G>T	c.(1819-1821)atG>atT	p.M607I	PTPRE_ENST00000419012.2_Missense_Mutation_p.M607I|PTPRE_ENST00000306042.5_Missense_Mutation_p.M549I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	607	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)			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)	GCAAAGGCATGATTGACCTCA	0.652																																					p.M607I	Colon(52;977 1184 20575 41685)	.											.	.	.	0			c.G1821T						.						76	69	71					10																	129875976		2203	4300	6503	SO:0001583	missense	5791	exon19			AGGCATGATTGAC	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.1821G>T	10.37:g.129875976G>T	ENSP00000254667:p.Met607Ile	64	0		46	3	NM_006504	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416704	0.83449	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.09911	2.93;2.93;2.93	4.44	4.44	0.53790	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	N	0.11789	0.175	0.80722	D	1	D;P;P;P	0.59357	0.985;0.888;0.863;0.888	D;P;P;P	0.71414	0.973;0.576;0.497;0.576	T	0.22487	-1.0215	10	0.49607	T	0.09	.	17.2389	0.87007	0.0:0.0:1.0:0.0	.	585;607;549;607	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	I	607;585;607;549	ENSP00000254667:M607I;ENSP00000402337:M607I;ENSP00000303350:M549I	ENSP00000254667:M607I	M	+	3	0	PTPRE	129765966	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.654000	0.98509	2.315000	0.78130	0.561000	0.74099	ATG	.		0.652	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			T	129875976	G	T	129875976	3	4	19	1	0	0	0	0	1	0	0	0	12845	1290	45	3	1926	3	PTPRE	10	129875976	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	7214179	129875976	5658771	91	2606											
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643279	1643279	+	Silent	SNP	C	C	T	rs551852315	byFrequency	TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:1643279C>T	ENST00000399682.1	-	1	89	c.45G>A	c.(43-45)ggG>ggA	p.G15G		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)		agccacagcccccacagccgg	0.682																																					p.G15G		.											KRTAP5-4,NS,carcinoma,0,1	KRTAP5-4	0	0			c.G45A						.																																			SO:0001819	synonymous_variant	387267	exon1			ACAGCCCCCACAG	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.45G>A	11.37:g.1643279C>T		84	0		102	5	NM_001012709		Silent	SNP	ENST00000399682.1	37																																																																																				.		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		T	1643279	C	T	1643279	2	4	19	1	0	0	0	0	0	0	0	1	8591	610	22	3		3	KRTAP5-4	11	1643279	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		1643279	133363237	92	2607											
OR52E8	390079	hgsc.bcm.edu	37	11	5878458	5878458	+	Silent	SNP	G	G	A	rs549924845	byFrequency	TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	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	5008	,	,		18808	0		0	False		,,,				2504	0.001				p.L159L		.											OR52E8,NS,carcinoma,0,1	OR52E8	0	0			c.C475T						.						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		28	1		39	2	NM_001005168	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																			.		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878458	G	A	5878458	2	1	19	1	0	0	0	0	0	0	0	1	11157	991	35	3		3	OR52E8	11	5878458	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	4235179	5878458	129128058	93	2608											
DCHS1	8642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	6647166	6647166	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:6647166A>T	ENST00000299441.3	-	17	7127	c.6716T>A	c.(6715-6717)aTc>aAc	p.I2239N		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2239	Cadherin 21. {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)		TTCAGCCCAGATCTCACGGTC	0.582																																					p.I2239N		.											.	.	.	0			c.T6716A						.						173	153	160					11																	6647166		2201	4296	6497	SO:0001583	missense	8642	exon17			GCCCAGATCTCAC	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.6716T>A	11.37:g.6647166A>T	ENSP00000299441:p.Ile2239Asn	27	0		38	9	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475295	0.63737	.	.	ENSG00000166341	ENST00000299441	T	0.50548	0.74	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000235	T	0.52484	0.1737	N	0.25992	0.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43393	-0.9394	10	0.15952	T	0.53	.	13.8523	0.63504	1.0:0.0:0.0:0.0	.	2239	Q96JQ0	PCD16_HUMAN	N	2239	ENSP00000299441:I2239N	ENSP00000299441:I2239N	I	-	2	0	DCHS1	6603742	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.734000	0.91543	2.060000	0.61445	0.460000	0.39030	ATC	.		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6647166	A	T	6647166	3	4	19	1	0	0	0	0	1	0	0	0	4296	333	12	5	3200	5	DCHS1	11	6647166	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	768708	6647166	128359350	94	2609											
CAPRIN1	4076	broad.mit.edu	37	11	34101180	34101180	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:34101180G>C	ENST00000341394.4	+	7	883	c.694G>C	c.(694-696)Gtt>Ctt	p.V232L	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V232L|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V232L|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V232L|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.V151L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	232					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTTAGATAAAGTTCTAAAGGA	0.373																																					p.V232L													.	CAPRIN1	110	0			c.G694C						.						71	74	73					11																	34101180		2202	4298	6500	SO:0001583	missense	4076	exon7			GATAAAGTTCTAA	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.694G>C	11.37:g.34101180G>C	ENSP00000340329:p.Val232Leu	35	0		40	3	NM_203364	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938832	0.34189	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.56	4.65	0.58169	.	0.309004	0.39544	N	0.001328	T	0.19248	0.0462	N	0.22421	0.69	0.36895	D	0.890095	B;B	0.21225	0.053;0.049	B;B	0.18871	0.009;0.023	T	0.13737	-1.0498	10	0.23891	T	0.37	-0.3464	9.6275	0.39759	0.0705:0.0:0.787:0.1425	.	232;232	Q14444;Q14444-2	CAPR1_HUMAN;.	L	232;232;232;232;151	ENSP00000340329:V232L;ENSP00000374296:V232L;ENSP00000434150:V232L;ENSP00000434204:V232L;ENSP00000431581:V151L	ENSP00000340329:V232L	V	+	1	0	CAPRIN1	34057756	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	4.428000	0.59894	1.476000	0.48215	-0.190000	0.12839	GTT	.		0.373	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		C	34101180	G	C	34101180	3	2	19	1	0	0	0	0	1	0	0	0	2642	1029	36	5	716	5	CAPRIN1	11	34101180	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	27454014	34101180	100905336	95	2610											
CAPRIN1	4076	broad.mit.edu	37	11	34110974	34110974	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:34110974C>A	ENST00000341394.4	+	12	1453	c.1264C>A	c.(1264-1266)Caa>Aaa	p.Q422K	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.Q422K|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.Q422K|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.Q422K|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.Q341K	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	422					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TCAGCCTAATCAAGTTCCTGT	0.388																																					p.Q422K													.	CAPRIN1	110	0			c.C1264A						.						97	88	91					11																	34110974		2202	4298	6500	SO:0001583	missense	4076	exon12			CCTAATCAAGTTC	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1264C>A	11.37:g.34110974C>A	ENSP00000340329:p.Gln422Lys	44	0		44	3	NM_203364	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609915	0.28712	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.45	5.45	0.79879	.	0.316455	0.35262	N	0.003333	T	0.20700	0.0498	L	0.44542	1.39	0.34456	D	0.701256	B;B	0.23854	0.092;0.075	B;B	0.24541	0.054;0.032	T	0.17137	-1.0379	10	0.10636	T	0.68	.	19.2816	0.94054	0.0:1.0:0.0:0.0	.	422;422	Q14444;Q14444-2	CAPR1_HUMAN;.	K	422;422;422;422;341	ENSP00000340329:Q422K;ENSP00000374296:Q422K;ENSP00000434150:Q422K;ENSP00000434204:Q422K;ENSP00000431581:Q341K	ENSP00000340329:Q422K	Q	+	1	0	CAPRIN1	34067550	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.703000	0.47110	2.539000	0.85634	0.563000	0.77884	CAA	.		0.388	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		A	34110974	C	A	34110974	3	1	19	1	0	0	0	0	1	0	0	0	2642	827	29	3	1306	3	CAPRIN1	11	34110974	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	9794	34110974	100895542	96	2611											
PCNXL3	399909	hgsc.bcm.edu	37	11	65402529	65402529	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:65402529G>T	ENST00000355703.3	+	30	5430	c.4891G>T	c.(4891-4893)Gac>Tac	p.D1631Y	MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1631						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGTCTTTGCCGACATGGACCT	0.632																																					p.D1631Y		.											PCNXL3_ENST00000355703,NS,carcinoma,0,1	PCNXL3_ENST00000355703	0	0			c.G4891T						.						66	68	67					11																	65402529		2127	4233	6360	SO:0001583	missense	399909	exon30			TTTGCCGACATGG	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.4891G>T	11.37:g.65402529G>T	ENSP00000347931:p.Asp1631Tyr	28	0		13	2	NM_032223	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639754	0.87760	.	.	ENSG00000197136	ENST00000355703	T	0.52754	0.65	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.91406	3.205	0.53005	D	0.999961	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.81172	-0.1054	10	0.87932	D	0	.	14.8614	0.70384	0.0:0.0:1.0:0.0	.	518;1631	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	Y	1631	ENSP00000347931:D1631Y	ENSP00000347931:D1631Y	D	+	1	0	PCNXL3	65159105	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.198000	0.94994	2.376000	0.81061	0.563000	0.77884	GAC	.		0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		T	65402529	G	T	65402529	3	4	19	1	0	0	0	0	1	0	0	0	11632	1058	37	2	5009	2	PCNXL3	11	65402529	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	31291555	65402529	69603987	97	2612											
SPTBN2	6712	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	66463945	66463945	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:66463945G>A	ENST00000533211.1	-	21	4412	c.4081C>T	c.(4081-4083)Ctg>Ttg	p.L1361L	SPTBN2_ENST00000309996.2_Silent_p.L1361L|SPTBN2_ENST00000529997.1_Silent_p.L1361L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1361					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						CGCCTGTGCAGGTCTCTCAGC	0.602																																					p.L1361L		.											.	.	.	0			c.C4081T						.						101	111	108					11																	66463945		2200	4295	6495	SO:0001819	synonymous_variant	6712	exon20			TGTGCAGGTCTCT	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.4081C>T	11.37:g.66463945G>A		17	0		18	9	NM_006946	O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																			.		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66463945	G	A	66463945	2	1	19	1	0	0	0	0	0	0	0	1	15167	991	35	3		3	SPTBN2	11	66463945	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	1061416	66463945	68542571	98	2613											
ADRBK1	156	hgsc.bcm.edu	37	11	67049787	67049787	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:67049787G>T	ENST00000308595.5	+	12	1293	c.1003G>T	c.(1003-1005)Gac>Tac	p.D335Y	ADRBK1_ENST00000526285.1_Missense_Mutation_p.D335Y|ADRBK1_ENST00000527176.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GCGGATCTCGGACCTGGGCCT	0.652																																					p.D335Y		.											.	.	.	0			c.G1003T						.						84	87	86					11																	67049787		2200	4295	6495	SO:0001583	missense	156	exon12			ATCTCGGACCTGG	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.1003G>T	11.37:g.67049787G>T	ENSP00000312262:p.Asp335Tyr	57	0		71	4	NM_001619	B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751289	0.69533	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	D;D	0.93076	-3.16;-3.16	5.21	5.21	0.72293	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	0.000004	D	0.98124	0.9381	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99368	1.0919	10	0.87932	D	0	-17.0997	19.1477	0.93475	0.0:0.0:1.0:0.0	.	335;335	P25098;E9PRV7	ARBK1_HUMAN;.	Y	335	ENSP00000312262:D335Y;ENSP00000434126:D335Y	ENSP00000312262:D335Y	D	+	1	0	ADRBK1	66806363	1.000000	0.71417	0.987000	0.45799	0.335000	0.28730	9.476000	0.97823	2.606000	0.88127	0.655000	0.94253	GAC	.		0.652	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		T	67049787	G	T	67049787	3	4	19	1	0	0	0	0	1	0	0	0	343	1174	41	3	1049	3	ADRBK1	11	67049787	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	585842	67049787	67956729	99	2614											
ADRBK1	156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	67051372	67051372	+	Silent	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:67051372C>T	ENST00000308595.5	+	17	1733	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	481	AGC-kinase C-terminal.				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)	p.D481D(1)		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)	ACGCGGCCGACGCCTTCGACA	0.627																																					p.D481D		.											ADRBK1,NS,carcinoma,0,1	ADRBK1	0	1	Substitution - coding silent(1)	endometrium(1)	c.C1443T						.						29	30	30					11																	67051372		2200	4295	6495	SO:0001819	synonymous_variant	156	exon17			GGCCGACGCCTTC	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.1443C>T	11.37:g.67051372C>T		15	0		36	4	NM_001619	B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	CCDS8156.1																																																																																			.		0.627	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		T	67051372	C	T	67051372	2	4	19	1	0	0	0	0	0	0	0	1	343	535	19	1		1	ADRBK1	11	67051372	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	1585	67051372	67955144	100	2615											
CNTN5	53942	hgsc.bcm.edu	37	11	100095501	100095501	+	Silent	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:100095501C>A	ENST00000524871.1	+	16	2252	c.1962C>A	c.(1960-1962)acC>acA	p.T654T	CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000418526.2_Silent_p.T580T|CNTN5_ENST00000528682.1_Silent_p.T654T|CNTN5_ENST00000527185.1_Silent_p.T654T|CNTN5_ENST00000279463.3_Silent_p.T654T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	654	Ig-like C2-type 6.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T654T(2)		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)		GGGTACAGACCACAGCAGACA	0.453																																					p.T654T		.											CNTN5_ENST00000524871,NS,carcinoma,0,2	CNTN5_ENST00000524871	0	2	Substitution - coding silent(2)	lung(2)	c.C1962A						.						119	118	118					11																	100095501		2005	4187	6192	SO:0001819	synonymous_variant	53942	exon15			ACAGACCACAGCA	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.1962C>A	11.37:g.100095501C>A		18	0		20	2	NM_001243270	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																			.		0.453	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	100095501	C	A	100095501	2	1	19	1	0	0	0	0	0	0	0	1	3651	581	21	3		3	CNTN5	11	100095501	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	33044129	100095501	34911015	101	2616											
BIRC2	329	hgsc.bcm.edu	37	11	102221671	102221671	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:102221671C>A	ENST00000227758.2	+	3	2391	c.992C>A	c.(991-993)cCa>cAa	p.P331Q	BIRC2_ENST00000532672.1_Missense_Mutation_p.P310Q|BIRC2_ENST00000530675.1_Missense_Mutation_p.P282Q|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	331					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)	p.P331Q(1)		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)		AAGTGGTTTCCAAGGTAATTG	0.373																																					p.P331Q		.											BIRC2,NS,carcinoma,0,1	BIRC2	0	1	Substitution - Missense(1)	lung(1)	c.C992A						.						269	255	259					11																	102221671		2203	4299	6502	SO:0001583	missense	329	exon3			GGTTTCCAAGGTA	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.992C>A	11.37:g.102221671C>A	ENSP00000227758:p.Pro331Gln	60	0		50	2	NM_001256163	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728437	0.89390	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.06528	3.29;3.29;3.29	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55205	-0.8177	10	0.87932	D	0	-33.2712	20.2019	0.98263	0.0:1.0:0.0:0.0	.	331	Q13490	BIRC2_HUMAN	Q	282;331;331;310	ENSP00000431723:P282Q;ENSP00000227758:P331Q;ENSP00000434979:P310Q	ENSP00000227758:P331Q	P	+	2	0	BIRC2	101726881	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.776000	0.95493	0.655000	0.94253	CCA	.		0.373	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		A	102221671	C	A	102221671	3	1	19	1	0	0	0	0	1	0	0	0	1437	594	21	3	998	3	BIRC2	11	102221671	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	2126170	102221671	32784845	102	2617											
OR8B8	26493	hgsc.bcm.edu	37	11	124310958	124310958	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:124310958G>C	ENST00000328064.2	-	1	96	c.24C>G	c.(22-24)ttC>ttG	p.F8L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	8					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		ACTGTGTCACGAAGGAGGAAT	0.507																																					p.F8L		.											OR8B8,NS,chondrosarcoma,0,1	OR8B8	0	0			c.C24G						.						37	38	37					11																	124310958		2201	4299	6500	SO:0001583	missense	26493	exon1			TGTCACGAAGGAG	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.24C>G	11.37:g.124310958G>C	ENSP00000330280:p.Phe8Leu	27	0		16	2	NM_012378	A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.771589	0.00081	.	.	ENSG00000197125	ENST00000328064	T	0.00340	8.04	1.73	-3.45	0.04781	.	0.936256	0.08635	U	0.916494	T	0.00073	0.0002	N	0.02842	-0.48	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.26395	-1.0104	10	0.09590	T	0.72	.	1.2335	0.01948	0.391:0.2583:0.2212:0.1295	.	8	Q15620	OR8B8_HUMAN	L	8	ENSP00000330280:F8L	ENSP00000330280:F8L	F	-	3	2	OR8B8	123816168	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.586000	0.00060	-2.628000	0.00436	-1.450000	0.01041	TTC	.		0.507	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		C	124310958	G	C	124310958	3	2	19	1	0	0	0	0	1	0	0	0	11269	1049	37	5	914	5	OR8B8	11	124310958	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	22089287	124310958	10695558	103	2618											
CHEK1	1111	bcgsc.ca	37	11	125514458	125514458	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr11:125514458G>T	ENST00000534070.1	+	11	1408	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y	CHEK1_ENST00000278916.3_Intron|CHEK1_ENST00000427383.2_Missense_Mutation_p.D401Y|CHEK1_ENST00000428830.2_Missense_Mutation_p.D385Y|CHEK1_ENST00000544373.1_Missense_Mutation_p.D385Y|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Missense_Mutation_p.D385Y|CHEK1_ENST00000438015.1_Missense_Mutation_p.D385Y	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	385					cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	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;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TACCAAATTGGATGCAGACAA	0.378								Other conserved DNA damage response genes																													p.D385Y													.	CHEK1	44	0			c.G1153T						.						122	121	121					11																	125514458		2201	4299	6500	SO:0001583	missense	1111	exon11			AAATTGGATGCAG	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1153G>T	11.37:g.125514458G>T	ENSP00000435371:p.Asp385Tyr	60	0		55	4	NM_001244846	A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977321	0.74360	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737	T;T;T;T;T;T	0.73363	-0.71;-0.39;-0.71;-0.74;-0.71;-0.71	5.63	5.63	0.86233	.	0.107097	0.64402	D	0.000006	T	0.82226	0.4991	L	0.50333	1.59	0.58432	D	0.999992	D;D;P	0.62365	0.991;0.978;0.939	P;P;P	0.61722	0.893;0.862;0.781	T	0.83324	-0.0016	10	0.72032	D	0.01	-21.4368	18.4811	0.90812	0.0:0.0:1.0:0.0	.	385;401;385	F5H7S4;E7EPP6;O14757	.;.;CHK1_HUMAN	Y	385;401;385;385;385;385	ENSP00000388648:D385Y;ENSP00000391090:D401Y;ENSP00000412504:D385Y;ENSP00000442317:D385Y;ENSP00000435371:D385Y;ENSP00000432890:D385Y	ENSP00000391090:D401Y	D	+	1	0	CHEK1	125019668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.192000	0.65115	2.652000	0.90054	0.655000	0.94253	GAT	.		0.378	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		T	125514458	G	T	125514458	3	4	19	1	0	0	0	0	1	0	0	0	3341	1174	41	3	1191	3	CHEK1	11	125514458	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	1203500	125514458	9492058	104	2619											
B4GALNT3	283358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	665927	665927	+	Missense_Mutation	SNP	A	A	G	rs544102330	byFrequency	TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:665927A>G	ENST00000266383.5	+	15	2288	c.2275A>G	c.(2275-2277)Aac>Gac	p.N759D		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	759					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)			GGACCCACACAACCGTAGGAG	0.637																																					p.N759D		.											.	.	.	0			c.A2275G						.						49	43	45					12																	665927		2203	4300	6503	SO:0001583	missense	283358	exon15			CCACACAACCGTA	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.2275A>G	12.37:g.665927A>G	ENSP00000266383:p.Asn759Asp	48	0		41	10	NM_173593	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	0.055	-1.240153	0.01493	.	.	ENSG00000139044	ENST00000266383	T	0.05081	3.5	5.52	-3.43	0.04810	.	1.881860	0.01998	N	0.046034	T	0.03520	0.0101	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40572	-0.9556	10	0.09084	T	0.74	-2.7588	7.4294	0.27118	0.2404:0.5025:0.2571:0.0	.	759	Q6L9W6	B4GN3_HUMAN	D	759	ENSP00000266383:N759D	ENSP00000266383:N759D	N	+	1	0	B4GALNT3	536188	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.008000	0.12788	-0.187000	0.10516	-1.156000	0.01807	AAC	.		0.637	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		G	665927	A	G	665927	3	3	19	1	0	0	0	0	1	0	0	0	1269	130	5	4	2333	4	B4GALNT3	12	665927	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09		665927	133185968	105	2620											
SYT10	341359	hgsc.bcm.edu;bcgsc.ca	37	12	33579333	33579333	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:33579333G>A	ENST00000228567.3	-	2	545	c.249C>T	c.(247-249)tgC>tgT	p.C83C	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	83					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)					TGCTTTTCCAGCATGGCCAAC	0.433																																					p.C83C		.											.	.	.	0			c.C249T						.						72	70	71					12																	33579333		2203	4300	6503	SO:0001819	synonymous_variant	341359	exon2			TTTCCAGCATGGC	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.249C>T	12.37:g.33579333G>A		52	0		56	4	NM_198992	Q495U2	Silent	SNP	ENST00000228567.3	37	CCDS8732.1																																																																																			.		0.433	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		A	33579333	G	A	33579333	2	1	19	1	0	0	0	0	0	0	0	1	15513	963	34	3		3	SYT10	12	33579333	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	32913406	33579333	100272562	106	2621											
SRGAP1	57522	hgsc.bcm.edu	37	12	64505698	64505698	+	Silent	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:64505698T>C	ENST00000355086.3	+	17	2600	c.2076T>C	c.(2074-2076)acT>acC	p.T692T	SRGAP1_ENST00000543397.1_Silent_p.T629T|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.T669T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	692	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		ACCATGAGACTATTTTCCCAG	0.428																																					p.T692T		.											.	.	.	0			c.T2076C						.						164	148	153					12																	64505698		2203	4300	6503	SO:0001819	synonymous_variant	57522	exon17			TGAGACTATTTTC	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.2076T>C	12.37:g.64505698T>C		52	0		39	3	NM_020762	Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	CCDS8967.1																																																																																			.		0.428	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64505698	T	C	64505698	2	2	19	1	0	0	0	0	0	0	0	1	15192	1509	53	4		4	SRGAP1	12	64505698	Silent	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	30926365	64505698	69346197	107	2622											
EEA1	8411	hgsc.bcm.edu	37	12	93226362	93226362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:93226362C>A	ENST00000322349.8	-	11	1444	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	394					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						TGCTTAAACTCCGCCTTTAGA	0.368																																					p.E394X		.											.	.	.	0			c.G1180T						.						175	164	167					12																	93226362		2203	4300	6503	SO:0001587	stop_gained	8411	exon11			TAAACTCCGCCTT	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.1180G>T	12.37:g.93226362C>A	ENSP00000317955:p.Glu394*	81	0		80	4	NM_003566	Q14221	Nonsense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	37	6.571795	0.97671	.	.	ENSG00000102189	ENST00000322349	.	.	.	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	.	.	.	X	394	.	ENSP00000317955:E394X	E	-	1	0	EEA1	91750493	1.000000	0.71417	0.967000	0.41034	0.315000	0.28087	6.625000	0.74248	2.577000	0.86979	0.655000	0.94253	GAG	.		0.368	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		A	93226362	C	A	93226362	4	1	19	1	0	0	0	0	0	1	0	0	4935	864	30	3	3131	3	EEA1	12	93226362	Nonsense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	28720664	93226362	40625533	108	2623											
MYBPC1	4604	hgsc.bcm.edu	37	12	102061631	102061631	+	Silent	SNP	C	C	T	rs371105415		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:102061631C>T	ENST00000550270.1	+	22	2457	c.2457C>T	c.(2455-2457)agC>agT	p.S819S	MYBPC1_ENST00000536007.1_Silent_p.S782S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Silent_p.S789S|MYBPC1_ENST00000441232.1_Silent_p.S819S|MYBPC1_ENST00000360610.2_Silent_p.S819S|MYBPC1_ENST00000361685.2_Silent_p.S826S|MYBPC1_ENST00000547405.1_Silent_p.S775S|MYBPC1_ENST00000361466.2_Silent_p.S826S|MYBPC1_ENST00000553190.1_Silent_p.S801S|MYBPC1_ENST00000392934.3_Silent_p.S788S|MYBPC1_ENST00000547509.1_Silent_p.S787S|MYBPC1_ENST00000452455.2_Silent_p.S819S|MYBPC1_ENST00000549145.1_Silent_p.S832S|MYBPC1_ENST00000551300.1_Silent_p.S702S|MYBPC1_ENST00000545503.2_Silent_p.S801S			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	819	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CTGGTGCCAGCGAGCCCAAGT	0.438																																					p.S826S		.											MYBPC1_ENST00000360610,NS,adenocarcinoma,0,2	MYBPC1_ENST00000360610	0	0			c.C2478T						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	96	81	86		2478,2478,2457,2403	-3.6	1	12		86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYBPC1	NM_002465.2,NM_206819.1,NM_206820.1,NM_206821.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	826/1172,826/1149,819/1142,801/1124	102061631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4604	exon23			TGCCAGCGAGCCC		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.2457C>T	12.37:g.102061631C>T		63	0		48	3	NM_206819	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																			.		0.438	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			T	102061631	C	T	102061631	2	4	19	1	0	0	0	0	0	0	0	1	10049	767	27	1		1	MYBPC1	12	102061631	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	8835269	102061631	31790264	109	2624											
NT5DC3	51559	hgsc.bcm.edu	37	12	104171793	104171793	+	Silent	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:104171793G>T	ENST00000392876.3	-	14	1501	c.1461C>A	c.(1459-1461)acC>acA	p.T487T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	487						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						TTAGGAAGTAGGTTGGGTTCT	0.512																																					p.T487T		.											.	.	.	0			c.C1461A						.						84	84	84					12																	104171793		2203	4300	6503	SO:0001819	synonymous_variant	51559	exon14			GAAGTAGGTTGGG	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.1461C>A	12.37:g.104171793G>T		47	0		56	4	NM_001031701	Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	CCDS41824.1																																																																																			.		0.512	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		T	104171793	G	T	104171793	2	4	19	1	0	0	0	0	0	0	0	1	10731	987	35	3		3	NT5DC3	12	104171793	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	2110162	104171793	29680102	110	2625											
CCDC62	84660	hgsc.bcm.edu	37	12	123262119	123262119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:123262119C>T	ENST00000253079.6	+	2	462	c.118C>T	c.(118-120)Cga>Tga	p.R40*	CCDC62_ENST00000392441.4_Nonsense_Mutation_p.R40*|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	40					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ATTAAAAGATCGAGATAAAGA	0.448																																					p.R40X		.											CCDC62_ENST00000253079,NS,carcinoma,0,2	CCDC62_ENST00000253079	0	0			c.C118T						.						82	77	78					12																	123262119		2203	4300	6503	SO:0001587	stop_gained	84660	exon2			AAAGATCGAGATA		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.118C>T	12.37:g.123262119C>T	ENSP00000253079:p.Arg40*	31	0		28	2	NM_201435	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Nonsense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588276	0.97684	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	.	.	.	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9273	14.0517	0.64742	0.1508:0.8492:0.0:0.0	.	.	.	.	X	40	.	ENSP00000253079:R40X	R	+	1	2	CCDC62	121828072	1.000000	0.71417	0.918000	0.36340	0.933000	0.57130	3.171000	0.50824	2.941000	0.99782	0.655000	0.94253	CGA	.		0.448	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		T	123262119	C	T	123262119	4	4	19	1	0	0	0	0	0	1	0	0	2840	876	31	1	124	1	CCDC62	12	123262119	Nonsense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	19090326	123262119	10589776	111	2626											
FZD10	11211	ucsc.edu	37	12	130648884	130648884	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr12:130648884G>A	ENST00000229030.4	+	1	1881	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	FZD10_ENST00000539839.1_Silent_p.T433T|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	466					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)		TTTTACGAACGCCTCAACATG	0.557																																					p.R466H													.	FZD10	95	0			c.G1397A						.						106	104	105					12																	130648884		2203	4300	6503	SO:0001583	missense	11211	exon1			ACGAACGCCTCAA	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.1397G>A	12.37:g.130648884G>A	ENSP00000229030:p.Arg466His	27	0		33	4	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173209	0.57584	.	.	ENSG00000111432	ENST00000229030	D	0.81996	-1.56	5.1	4.21	0.49690	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000001	T	0.70789	0.3264	L	0.28504	0.86	0.51767	D	0.999933	P	0.36483	0.555	B	0.29862	0.108	T	0.67413	-0.5677	10	0.24483	T	0.36	.	13.375	0.60732	0.0765:0.0:0.9235:0.0	.	466	Q9ULW2	FZD10_HUMAN	H	466	ENSP00000229030:R466H	ENSP00000229030:R466H	R	+	2	0	FZD10	129214837	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	6.629000	0.74267	1.140000	0.42260	0.561000	0.74099	CGC	.		0.557	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	130648884	G	A	130648884	3	1	19	1	0	0	0	0	1	0	0	0	6153	1087	38	1	1399	1	FZD10	12	130648884	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	7386765	130648884	3203011	112	2627											
PSPC1	55269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	20277436	20277436	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr13:20277436C>T	ENST00000338910.4	-	9	1610	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	484	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGTTTCAGAACCTGTTCTACT	0.483																																					p.G484D		.											.	.	.	0			c.G1451A						.						57	67	64					13																	20277436		1922	4132	6054	SO:0001583	missense	55269	exon10			TCAGAACCTGTTC	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1451G>A	13.37:g.20277436C>T	ENSP00000343966:p.Gly484Asp	151	0		120	18	NM_001042414	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886921	0.52014	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.16196	2.36	5.4	5.4	0.78164	.	0.246703	0.39687	N	0.001286	T	0.30759	0.0775	N	0.24115	0.695	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	T	0.06534	-1.0821	10	0.54805	T	0.06	-11.9055	19.1702	0.93574	0.0:1.0:0.0:0.0	.	484	Q8WXF1	PSPC1_HUMAN	D	484;424	ENSP00000343966:G484D	ENSP00000343966:G484D	G	-	2	0	PSPC1	19175436	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.912000	0.69948	2.529000	0.85273	0.484000	0.47621	GGT	.		0.483	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			T	20277436	C	T	20277436	3	4	19	1	0	0	0	0	1	0	0	0	12758	507	18	3	124	3	PSPC1	13	20277436	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		20277436	94892442	113	2628											
PABPC3	5042	hgsc.bcm.edu	37	13	25671267	25671267	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr13:25671267C>T	ENST00000281589.3	+	1	968	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	311	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.R311W(2)		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)		TGAACGTCTCCGGAAAGCGTT	0.418																																					p.R311W		.											PABPC3,NS,carcinoma,0,1	PABPC3	0	2	Substitution - Missense(2)	lung(2)	c.C931T						.						216	215	216					13																	25671267		2203	4300	6503	SO:0001583	missense	5042	exon1			CGTCTCCGGAAAG	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.931C>T	13.37:g.25671267C>T	ENSP00000281589:p.Arg311Trp	65	0		37	2	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975605	0.18736	.	.	ENSG00000151846	ENST00000281589	T	0.19532	2.14	0.875	-0.0465	0.13846	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.162747	0.27720	U	0.018139	T	0.31104	0.0786	L	0.58354	1.805	0.39621	D	0.97002	D	0.63880	0.993	P	0.62184	0.899	T	0.08659	-1.0711	10	0.72032	D	0.01	.	5.2628	0.15584	0.0:0.7661:0.0:0.2339	.	311	Q9H361	PABP3_HUMAN	W	311	ENSP00000281589:R311W	ENSP00000281589:R311W	R	+	1	2	PABPC3	24569267	0.961000	0.32948	0.751000	0.31187	0.139000	0.21198	1.461000	0.35255	-0.050000	0.13356	-0.643000	0.03959	CGG	.		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671267	C	T	25671267	3	4	19	1	0	0	0	0	1	0	0	0	11404	643	23	1	933	1	PABPC3	13	25671267	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	5393831	25671267	89498611	114	2629											
BRCA2	675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	32913032	32913032	+	Missense_Mutation	SNP	G	G	C	rs397507725		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr13:32913032G>C	ENST00000380152.3	+	11	4773	c.4540G>C	c.(4540-4542)Gaa>Caa	p.E1514Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1514Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1514	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				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)		CGAACGTGATGAAAAGATCAA	0.378			"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.E1514Q	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	BRCA2,NS,carcinoma,0,1	BRCA2	0	0			c.G4540C						.						60	63	62					13																	32913032		2203	4296	6499	SO:0001583	missense	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)	CGTGATGAAAAGA	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.4540G>C	13.37:g.32913032G>C	ENSP00000369497:p.Glu1514Gln	58	0		32	5	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	4.230	0.041645	0.08196	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00784	5.7;5.7	5.74	0.312	0.15837	.	0.528682	0.19909	N	0.103323	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	P	0.35383	0.498	B	0.30572	0.117	T	0.52403	-0.8580	10	0.42905	T	0.14	.	9.5955	0.39571	0.6196:0.0:0.3804:0.0	.	1514	P51587	BRCA2_HUMAN	Q	1514	ENSP00000369497:E1514Q;ENSP00000439902:E1514Q	ENSP00000369497:E1514Q	E	+	1	0	BRCA2	31811032	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.040000	0.12104	0.065000	0.16485	-0.244000	0.11960	GAA	.		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		C	32913032	G	C	32913032	3	2	19	1	0	0	0	0	1	0	0	0	1503	1291	45	5	4578	5	BRCA2	13	32913032	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	7241765	32913032	82256846	115	2630											
ZNF828	283489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	115089740	115089740	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr13:115089740G>C	ENST00000361283.1	+	3	732	c.423G>C	c.(421-423)ttG>ttC	p.L141F		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	141	Pro-rich.				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)										GTTCAGTTTTGTCTCCAGAAT	0.483																																					p.L141F		.											.	.	.	0			c.G423C						.						96	101	99					13																	115089740		2203	4300	6503	SO:0001583	missense	283489	exon3			AGTTTTGTCTCCA	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.423G>C	13.37:g.115089740G>C	ENSP00000354730:p.Leu141Phe	38	0		41	5	NM_001164144	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	8.916	0.959957	0.18507	.	.	ENSG00000198824	ENST00000361283	T	0.01430	4.9	5.56	2.67	0.31697	.	0.996122	0.08125	N	0.994117	T	0.01421	0.0046	N	0.24115	0.695	0.09310	N	1	B	0.24483	0.104	B	0.30646	0.118	T	0.50988	-0.8762	9	.	.	.	2.6547	5.5071	0.16860	0.1898:0.0:0.558:0.2522	.	141	Q96JM3	ZN828_HUMAN	F	141	ENSP00000354730:L141F	.	L	+	3	2	ZNF828	114107842	0.001000	0.12720	0.742000	0.31022	0.961000	0.63080	-0.660000	0.05317	0.659000	0.30945	0.655000	0.94253	TTG	.		0.483	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		C	115089740	G	C	115089740	3	2	19	1	0	0	0	0	1	0	0	0	18229	1368	48	5	425	5	ZNF828	13	115089740	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	82176708	115089740	80138	116	2631											
THTPA	79178	hgsc.bcm.edu	37	14	24025980	24025980	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr14:24025980T>C	ENST00000288014.6	+	1	750	c.14T>C	c.(13-15)tTg>tCg	p.L5S	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.L5S|THTPA_ENST00000554789.1_Missense_Mutation_p.L5S|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.L5S|THTPA_ENST00000554970.1_Missense_Mutation_p.L5S|RP11-66N24.4_ENST00000556354.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	5	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)	p.L5S(1)		large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GCCCAGGGCTTGATTGAGGTG	0.597																																					p.L5S		.											THTPA,NS,carcinoma,0,1	THTPA	0	1	Substitution - Missense(1)	prostate(1)	c.T14C						.						34	34	34					14																	24025980		2203	4300	6503	SO:0001583	missense	79178	exon2			AGGGCTTGATTGA	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.14T>C	14.37:g.24025980T>C	ENSP00000288014:p.Leu5Ser	9	1		10	2	NM_001256321	D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086263	0.36855	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.79	3.52	0.40303	CYTH domain (1);CYTH-like domain (1);	0.513196	0.21008	N	0.081732	T	0.30854	0.0778	L	0.50919	1.6	0.31973	N	0.606882	B;B	0.20164	0.037;0.042	B;B	0.17433	0.018;0.018	T	0.25467	-1.0131	10	0.21540	T	0.41	-2.9172	4.4618	0.11669	0.0:0.1884:0.2234:0.5883	.	5;5	G3V4J3;Q9BU02	.;THTPA_HUMAN	S	5	ENSP00000384580:L5S;ENSP00000288014:L5S;ENSP00000452281:L5S;ENSP00000451835:L5S;ENSP00000452465:L5S;ENSP00000450459:L5S	ENSP00000288014:L5S	L	+	2	0	THTPA	23095820	0.269000	0.24143	1.000000	0.80357	0.948000	0.59901	0.252000	0.18278	1.031000	0.39867	0.533000	0.62120	TTG	.		0.597	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			C	24025980	T	C	24025980	3	2	19	1	0	0	0	0	1	0	0	0	15928	1821	63	4	16	4	THTPA	14	24025980	Missense_Mutation	SNP	T	TCGA-W5-AA30-01A-31D-A417-09		24025980	83323560	117	2632											
KTN1	3895	hgsc.bcm.edu	37	14	56079169	56079169	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr14:56079169G>T	ENST00000395314.3	+	2	471	c.403G>T	c.(403-405)Gca>Tca	p.A135S	KTN1_ENST00000413890.2_Missense_Mutation_p.A135S|KTN1_ENST00000438792.2_Missense_Mutation_p.A135S|KTN1_ENST00000395308.1_Missense_Mutation_p.A135S|KTN1_ENST00000395311.1_Missense_Mutation_p.A135S|KTN1_ENST00000416613.1_Missense_Mutation_p.A135S|KTN1_ENST00000395309.3_Missense_Mutation_p.A135S	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	135					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)	p.A135T(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAAGTGACGCATCAAAGAT	0.438			T	RET	papillary thryoid																																p.A135S		.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	KTN1_ENST00000416613,colon,carcinoma,0,1	KTN1_ENST00000416613	0	1	Substitution - Missense(1)	large_intestine(1)	c.G403T						.						89	94	92					14																	56079169		2203	4300	6503	SO:0001583	missense	3895	exon2			AGTGACGCATCAA		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.403G>T	14.37:g.56079169G>T	ENSP00000378725:p.Ala135Ser	89	0		95	4	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	2.149	-0.395056	0.04899	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.9	2.03	0.26663	.	1.194940	0.06186	N	0.680486	D	0.94525	0.8237	N	0.22421	0.69	0.18873	N	0.999988	B;B;B;B	0.23128	0.037;0.064;0.037;0.08	B;B;B;B	0.30716	0.082;0.119;0.082;0.119	D	0.87312	0.2312	10	0.31617	T	0.26	0.0309	7.7204	0.28729	0.1919:0.118:0.6901:0.0	.	135;135;135;135	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	S	135	ENSP00000394992:A135S;ENSP00000378720:A135S;ENSP00000391964:A135S;ENSP00000378725:A135S;ENSP00000378719:A135S;ENSP00000378722:A135S;ENSP00000388807:A135S	ENSP00000378719:A135S	A	+	1	0	KTN1	55148922	0.998000	0.40836	0.161000	0.22692	0.006000	0.05464	0.928000	0.28831	0.103000	0.17682	-0.948000	0.02665	GCA	.		0.438	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			T	56079169	G	T	56079169	3	4	19	1	0	0	0	0	1	0	0	0	8613	1087	38	2	405	2	KTN1	14	56079169	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	32053189	56079169	51270371	118	2633											
ANGEL1	23357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	77274347	77274347	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr14:77274347T>C	ENST00000251089.2	-	3	906	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	265										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)		GCAATGTAGATAGAGCTCTGA	0.522																																					p.Y265C		.											.	.	.	0			c.A794G						.						112	99	103					14																	77274347		2203	4300	6503	SO:0001583	missense	23357	exon3			TGTAGATAGAGCT	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.794A>G	14.37:g.77274347T>C	ENSP00000251089:p.Tyr265Cys	32	0		23	5	NM_015305	B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256556	0.80246	.	.	ENSG00000013523	ENST00000251089	T	0.50277	0.75	5.43	5.43	0.79202	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82780	-0.0288	10	0.87932	D	0	-4.5631	15.4858	0.75564	0.0:0.0:0.0:1.0	.	265	Q9UNK9	ANGE1_HUMAN	C	265	ENSP00000251089:Y265C	ENSP00000251089:Y265C	Y	-	2	0	ANGEL1	76344100	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	8.040000	0.89188	2.070000	0.61991	0.459000	0.35465	TAT	.		0.522	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		C	77274347	T	C	77274347	3	2	19	1	0	0	0	0	1	0	0	0	608	1406	49	4	1250	4	ANGEL1	14	77274347	Missense_Mutation	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	21195178	77274347	30075193	119	2634											
EML5	161436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	89124692	89124692	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr14:89124692G>A	ENST00000380664.5	-	26	3715	c.3716C>T	c.(3715-3717)aCa>aTa	p.T1239I	EML5_ENST00000554922.1_Missense_Mutation_p.T1239I|EML5_ENST00000352093.5_Missense_Mutation_p.T1201I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1239						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						TGTGACATGTGTACTATGGGC	0.373																																					p.T1239I		.											.	.	.	0			c.C3716T						.						138	124	128					14																	89124692		1871	4109	5980	SO:0001583	missense	161436	exon26			ACATGTGTACTAT	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.3716C>T	14.37:g.89124692G>A	ENSP00000370039:p.Thr1239Ile	60	0		71	14	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357935	0.61403	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.39406	1.08;1.58;1.08	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.29908	0.895	0.42876	D	0.994153	B;P	0.36465	0.115;0.554	B;B	0.41088	0.326;0.347	T	0.45760	-0.9239	10	0.72032	D	0.01	-16.5219	17.9931	0.89175	0.0:0.0:1.0:0.0	.	1239;1239	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	I	1239;1201;1239	ENSP00000451998:T1239I;ENSP00000298315:T1201I;ENSP00000370039:T1239I	ENSP00000298315:T1201I	T	-	2	0	EML5	88194445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.527000	0.81931	2.550000	0.86006	0.557000	0.71058	ACA	.		0.373	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			A	89124692	G	A	89124692	3	1	19	1	0	0	0	0	1	0	0	0	5116	1377	48	3	2289	3	EML5	14	89124692	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	11850345	89124692	18224848	120	2635											
RYR3	6263	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	33923462	33923462	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr15:33923462G>T	ENST00000389232.4	+	23	2905	c.2835G>T	c.(2833-2835)gaG>gaT	p.E945D	RYR3_ENST00000415757.3_Missense_Mutation_p.E945D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	945	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)		CAGCTGCTGAGGAGGATCTCA	0.443																																					p.E945D		.											.	.	.	0			c.G2835T						.						80	78	79					15																	33923462		1885	4119	6004	SO:0001583	missense	6263	exon23			TGCTGAGGAGGAT		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.2835G>T	15.37:g.33923462G>T	ENSP00000373884:p.Glu945Asp	27	0		35	4	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451447	0.63290	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96913	-4.17;-4.17	5.09	-0.383	0.12477	.	0.000000	0.85682	D	0.000000	D	0.97056	0.9038	M	0.76838	2.35	0.41993	D	0.990854	D;D	0.64830	0.99;0.994	D;D	0.72982	0.979;0.97	D	0.94922	0.8074	10	0.48119	T	0.1	.	8.8627	0.35267	0.5298:0.0:0.4702:0.0	.	945;945	Q15413-2;Q15413	.;RYR3_HUMAN	D	945	ENSP00000373884:E945D;ENSP00000399610:E945D	ENSP00000354735:E945D	E	+	3	2	RYR3	31710754	0.983000	0.35010	0.940000	0.37924	0.990000	0.78478	0.186000	0.16978	-0.230000	0.09840	0.563000	0.77884	GAG	.		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33923462	G	T	33923462	3	4	19	1	0	0	0	0	1	0	0	0	13815	991	35	3	2925	3	RYR3	15	33923462	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		33923462	68607930	121	2636											
ACTC1	70	ucsc.edu	37	15	35084309	35084309	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr15:35084309A>G	ENST00000290378.4	-	5	1445	c.790T>C	c.(790-792)Ttc>Ctc	p.F264L	RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	264					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAGGGCTGGAAGAGTGTCTCA	0.522																																					p.F264L													.	ACTC1	75	0			c.T790C						.						76	75	75					15																	35084309		2201	4298	6499	SO:0001583	missense	70	exon5			GCTGGAAGAGTGT	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.790T>C	15.37:g.35084309A>G	ENSP00000290378:p.Phe264Leu	23	0		32	4	NM_005159	P04270	Missense_Mutation	SNP	ENST00000290378.4	37	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687331	0.48097	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.98135	-4.74	4.48	4.48	0.54585	.	0.000000	0.56097	U	0.000030	D	0.99108	0.9693	H	0.98542	4.26	0.58432	D	0.999996	B	0.29037	0.231	P	0.48873	0.593	D	0.99915	1.1220	10	0.87932	D	0	.	14.2454	0.65986	1.0:0.0:0.0:0.0	.	264	P68032	ACTC_HUMAN	L	264;229	ENSP00000290378:F264L	ENSP00000290378:F264L	F	-	1	0	ACTC1	32871601	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	7.325000	0.79124	2.008000	0.58898	0.533000	0.62120	TTC	.		0.522	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		G	35084309	A	G	35084309	3	3	19	1	0	0	0	0	1	0	0	0	195	72	3	4	355	4	ACTC1	15	35084309	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	1160847	35084309	67447083	122	2637											
FAM82A2	55177	hgsc.bcm.edu	37	15	41030190	41030190	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr15:41030190G>T	ENST00000260385.6	-	8	2165	c.1098C>A	c.(1096-1098)caC>caA	p.H366Q	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.H366Q			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	366					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.H366Q(1)									CAAGAAGAAAGTGAGCCATGG	0.458																																					p.H366Q		.											FAM82A2,NS,carcinoma,0,1	FAM82A2	0	1	Substitution - Missense(1)	endometrium(1)	c.C1098A						.						186	186	186					15																	41030190		2203	4300	6503	SO:0001583	missense	55177	exon9			AAGAAAGTGAGCC	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1098C>A	15.37:g.41030190G>T	ENSP00000260385:p.His366Gln	36	0		34	3	NM_018145	A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150025	0.57151	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.30448	1.53;1.53	5.37	3.51	0.40186	Tetratricopeptide-like helical (1);	0.217443	0.48767	D	0.000162	T	0.46600	0.1401	M	0.76574	2.34	0.34748	D	0.731469	D	0.60160	0.987	P	0.59761	0.863	T	0.59198	-0.7499	10	0.54805	T	0.06	-9.4798	7.7554	0.28921	0.2581:0.0:0.7419:0.0	.	366	Q96TC7	RMD3_HUMAN	Q	366;366;303	ENSP00000260385:H366Q;ENSP00000342493:H366Q	ENSP00000260385:H366Q	H	-	3	2	FAM82A2	38817482	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.097000	0.41748	0.666000	0.31087	-0.812000	0.03155	CAC	.		0.458	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		T	41030190	G	T	41030190	3	4	19	1	0	0	0	0	1	0	0	0	5653	1020	36	3	334	3	FAM82A2	15	41030190	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5945881	41030190	61501202	123	2638											
PLA2G4E	123745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	42276152	42276152	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr15:42276152C>T	ENST00000399518.3	-	20	2893	c.2407G>A	c.(2407-2409)Gag>Aag	p.E803K	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E774K|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	791	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)		TGCTCCAGCTCCTCAGGGCTT	0.522																																					p.E803K		.											.	.	.	0			c.G2407A						.						41	43	42					15																	42276152		1997	4191	6188	SO:0001583	missense	123745	exon20			CCAGCTCCTCAGG		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.2407G>A	15.37:g.42276152C>T	ENSP00000382434:p.Glu803Lys	14	0		21	6	NM_001206670	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118005	0.94385	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.05580	3.42;3.42	5.41	5.41	0.78517	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	M	0.88450	2.955	0.46317	D	0.998985	D;D	0.71674	0.998;0.997	D;D	0.72625	0.945;0.978	T	0.19353	-1.0308	10	0.87932	D	0	-28.8305	17.9688	0.89107	0.0:1.0:0.0:0.0	.	774;791	C9JK77;Q3MJ16	.;PA24E_HUMAN	K	803;774	ENSP00000382434:E803K;ENSP00000413897:E774K	ENSP00000382434:E803K	E	-	1	0	PLA2G4E	40063444	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.542000	0.67218	2.527000	0.85204	0.563000	0.77884	GAG	.		0.522	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		T	42276152	C	T	42276152	3	4	19	1	0	0	0	0	1	0	0	0	12044	864	30	3	203	3	PLA2G4E	15	42276152	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	1245962	42276152	60255240	124	2639											
VPS39	23339	hgsc.bcm.edu	37	15	42465949	42465949	+	Silent	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr15:42465949G>T	ENST00000348544.4	-	12	1094	c.1095C>A	c.(1093-1095)tcC>tcA	p.S365S	VPS39_ENST00000318006.5_Silent_p.S354S			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	365					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)		AGACCTGCATGGACTCATCAA	0.428																																					p.S354S		.											VPS39,NS,carcinoma,0,2	VPS39	0	0			c.C1062A						.						171	152	158					15																	42465949		2203	4299	6502	SO:0001819	synonymous_variant	23339	exon11			CTGCATGGACTCA	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.1095C>A	15.37:g.42465949G>T		35	0		21	2	NM_015289	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																			.		0.428	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		T	42465949	G	T	42465949	2	4	19	1	0	0	0	0	0	0	0	1	17258	1335	47	3		3	VPS39	15	42465949	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	189797	42465949	60065443	125	2640											
DMXL2	23312	hgsc.bcm.edu	37	15	51780309	51780309	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr15:51780309G>T	ENST00000251076.5	-	22	5346	c.5059C>A	c.(5059-5061)Cat>Aat	p.H1687N	DMXL2_ENST00000543779.2_Missense_Mutation_p.H1687N|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1051N|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1687						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)		TTTTCATCATGCTGTGACCTG	0.318																																					p.H1687N		.											.	.	.	0			c.C5059A						.						84	84	84					15																	51780309		2196	4293	6489	SO:0001583	missense	23312	exon22			CATCATGCTGTGA	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.5059C>A	15.37:g.51780309G>T	ENSP00000251076:p.His1687Asn	59	0		65	4	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073458	0.76415	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.40225	1.04;1.04;1.04	5.27	5.27	0.74061	.	0.045744	0.85682	D	0.000000	T	0.46737	0.1408	L	0.35414	1.06	0.50813	D	0.999894	B;P;P	0.43231	0.185;0.801;0.608	B;P;B	0.48952	0.1;0.596;0.382	T	0.48468	-0.9033	10	0.72032	D	0.01	.	18.8702	0.92309	0.0:0.0:1.0:0.0	.	1687;1051;1687	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	N	1687;1687;1051	ENSP00000251076:H1687N;ENSP00000441858:H1687N;ENSP00000400855:H1051N	ENSP00000251076:H1687N	H	-	1	0	DMXL2	49567601	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.538000	0.60650	2.442000	0.82660	0.585000	0.79938	CAT	.		0.318	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51780309	G	T	51780309	3	4	19	1	0	0	0	0	1	0	0	0	4609	1319	46	3	4142	3	DMXL2	15	51780309	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	9314360	51780309	50751083	126	2641											
LRRK1	79705	hgsc.bcm.edu	37	15	101566296	101566296	+	Missense_Mutation	SNP	G	G	T	rs367783860		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr15:101566296G>T	ENST00000388948.3	+	17	2718	c.2359G>T	c.(2359-2361)Ggc>Tgc	p.G787C	LRRK1_ENST00000284395.5_Missense_Mutation_p.G784C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.G787S(1)|p.G799S(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)			CTCCCCCTCCGGCTCCAGGGC	0.597																																					p.G787C		.											LRRK1_ENST00000388948,NS,carcinoma,0,2	LRRK1_ENST00000388948	0	2	Substitution - Missense(2)	endometrium(2)	c.G2359T						.						62	71	68					15																	101566296		2098	4222	6320	SO:0001583	missense	79705	exon17			CCCTCCGGCTCCA	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.2359G>T	15.37:g.101566296G>T	ENSP00000373600:p.Gly787Cys	23	0		46	2	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232880	0.58777	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73363	-0.71;-0.74	4.71	4.71	0.59529	ROC GTPase (1);	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85291	0.1067	10	0.72032	D	0.01	.	17.6842	0.88252	0.0:0.0:1.0:0.0	.	787	Q38SD2	LRRK1_HUMAN	C	787;784	ENSP00000373600:G787C;ENSP00000284395:G784C	ENSP00000284395:G784C	G	+	1	0	LRRK1	99383819	1.000000	0.71417	0.697000	0.30258	0.096000	0.18686	9.290000	0.96065	2.158000	0.67659	0.462000	0.41574	GGC	.		0.597	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101566296	G	T	101566296	3	4	19	1	0	0	0	0	1	0	0	0	9067	1116	39	2	2421	2	LRRK1	15	101566296	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	49785987	101566296	965096	127	2642											
APOB48R	55911	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	28507458	28507458	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr16:28507458G>A	ENST00000431282.1	+	3	1079	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.A357T|APOBR_ENST00000564831.1_Missense_Mutation_p.A366T			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	357	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						GGCCGGGACAGCCTCAGGAGG	0.667																																					p.A366T		.											.	.	.	0			c.G1096A						.						16	19	18					16																	28507458		1959	4109	6068	SO:0001583	missense	55911	exon2			GGGACAGCCTCAG	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.1069G>A	16.37:g.28507458G>A	ENSP00000416094:p.Ala357Thr	23	0		18	4	NM_018690	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37		.	.	.	.	.	.	.	.	.	.	G	13.61	2.288719	0.40494	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60299	0.2;0.2	3.92	-4.9	0.03094	.	.	.	.	.	T	0.34395	0.0896	N	0.19112	0.55	0.09310	N	1	B	0.30146	0.27	B	0.29524	0.103	T	0.20371	-1.0277	9	0.34782	T	0.22	6.3641	6.5262	0.22303	0.3857:0.1261:0.4882:0.0	.	357	Q9NS13	.	T	357	ENSP00000327669:A357T;ENSP00000416094:A357T	ENSP00000327669:A357T	A	+	1	0	APOBR	28414959	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.026000	0.01434	-0.919000	0.03803	-0.382000	0.06688	GCC	.		0.667	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		A	28507458	G	A	28507458	3	1	19	1	0	0	0	0	1	0	0	0	786	971	34	3	1079	3	APOB48R	16	28507458	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		28507458	61847295	128	2643											
ABCC11	85320	hgsc.bcm.edu	37	16	48249190	48249190	+	Silent	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr16:48249190G>T	ENST00000394747.1	-	7	1366	c.1017C>A	c.(1015-1017)atC>atA	p.I339I	ABCC11_ENST00000394748.1_Silent_p.I339I|ABCC11_ENST00000356608.2_Silent_p.I339I|ABCC11_ENST00000537808.1_Silent_p.I339I|ABCC11_ENST00000353782.5_Silent_p.I339I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	339	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)	TGGTCACACGGATGCGCTGGT	0.438																																					p.I339I		.											ABCC11,right_upper_lobe,carcinoma,0,1	ABCC11	0	0			c.C1017A						.						138	129	132					16																	48249190		2201	4300	6501	SO:0001819	synonymous_variant	85320	exon7			CACACGGATGCGC	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.1017C>A	16.37:g.48249190G>T		24	0		23	2	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			.		0.438	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		T	48249190	G	T	48249190	2	4	19	1	0	0	0	0	0	0	0	1	51	1164	41	3		3	ABCC11	16	48249190	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	19741732	48249190	42105563	129	2644											
CFDP1	10428	hgsc.bcm.edu	37	16	75339062	75339062	+	Silent	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr16:75339062G>T	ENST00000283882.3	-	6	801	c.669C>A	c.(667-669)ggC>ggA	p.G223G		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	223	BCNT-C. {ECO:0000255|PROSITE- ProRule:PRU00610}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)			p.G223G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						GGCTGCTCATGCCACTTGATC	0.413																																					p.G223G		.											CFDP1,NS,carcinoma,0,1	CFDP1	0	1	Substitution - coding silent(1)	endometrium(1)	c.C669A						.						92	93	93					16																	75339062		2198	4300	6498	SO:0001819	synonymous_variant	10428	exon6			GCTCATGCCACTT	AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.669C>A	16.37:g.75339062G>T		23	0		18	2	NM_006324	O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Silent	SNP	ENST00000283882.3	37	CCDS10916.1																																																																																			.		0.413	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		T	75339062	G	T	75339062	2	4	19	1	0	0	0	0	0	0	0	1	3289	1306	46	3		3	CFDP1	16	75339062	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	27089872	75339062	15015691	130	2645											
SPATA22	84690	hgsc.bcm.edu	37	17	3370841	3370841	+	Silent	SNP	C	C	T	rs80115425		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:3370841C>T	ENST00000573128.1	-	3	534	c.51G>A	c.(49-51)ttG>ttA	p.L17L	SPATA22_ENST00000397168.3_Silent_p.L17L|SPATA22_ENST00000541913.1_Silent_p.L17L|SPATA22_ENST00000575375.1_Silent_p.L17L|SPATA22_ENST00000572969.1_Silent_p.L17L|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000268981.5_Silent_p.L17L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	17					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						ACGGAACAGGCAAACAGCCTA	0.318																																					p.L17L		.											.	.	.	0			c.G51A						.						85	85	85					17																	3370841		2203	4300	6503	SO:0001819	synonymous_variant	84690	exon3			AACAGGCAAACAG	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.51G>A	17.37:g.3370841C>T		89	0		95	4	NM_032598	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Silent	SNP	ENST00000573128.1	37	CCDS11027.1																																																																																			.		0.318	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		T	3370841	C	T	3370841	2	4	19	1	0	0	0	0	0	0	0	1	15055	709	25	3		3	SPATA22	17	3370841	Silent	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		3370841	77824369	131	2646											
MYH2	4620	hgsc.bcm.edu	37	17	10426863	10426863	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:10426863G>T	ENST00000245503.5	-	37	5806	c.5422C>A	c.(5422-5424)Cag>Aag	p.Q1808K	MYH2_ENST00000397183.2_Missense_Mutation_p.Q1808K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1808					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						AGGGCCAGCTGCTCAGCCTCA	0.557																																					p.Q1808K		.											.	.	.	0			c.C5422A						.						100	103	102					17																	10426863		2203	4300	6503	SO:0001583	missense	4620	exon37			CCAGCTGCTCAGC		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.5422C>A	17.37:g.10426863G>T	ENSP00000245503:p.Gln1808Lys	50	0		46	4	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351450	0.82132	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.79454	-1.27;-1.27	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.37483	U	0.002063	D	0.92381	0.7582	H	0.96430	3.82	0.46901	D	0.999244	D	0.71674	0.998	D	0.87578	0.998	D	0.93965	0.7244	10	0.72032	D	0.01	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	1808	Q9UKX2	MYH2_HUMAN	K	1808	ENSP00000245503:Q1808K;ENSP00000380367:Q1808K	ENSP00000245503:Q1808K	Q	-	1	0	MYH2	10367588	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.252000	0.72447	2.861000	0.98227	0.655000	0.94253	CAG	.		0.557	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10426863	G	T	10426863	3	4	19	1	0	0	0	0	1	0	0	0	10073	1328	46	3	419	3	MYH2	17	10426863	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	7056022	10426863	70768347	132	2647											
EPN2	22905	hgsc.bcm.edu	37	17	19232056	19232056	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:19232056G>T	ENST00000314728.5	+	8	1664	c.1180G>T	c.(1180-1182)Ggg>Tgg	p.G394W	EPN2_ENST00000395626.1_Missense_Mutation_p.G394W|EPN2_ENST00000571254.1_Missense_Mutation_p.G330W|EPN2_ENST00000395618.3_Missense_Mutation_p.G109W|EPN2_ENST00000347697.2_Missense_Mutation_p.G337W|EPN2_ENST00000575595.1_Missense_Mutation_p.G102W|EPN2_ENST00000395620.2_Missense_Mutation_p.G337W	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	394	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.G394W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGACCCATGGGGGGTGCCCAC	0.607																																					p.G394W		.											EPN2,NS,carcinoma,0,1	EPN2	0	1	Substitution - Missense(1)	lung(1)	c.G1180T						.						57	53	54					17																	19232056		2203	4300	6503	SO:0001583	missense	22905	exon8			CCATGGGGGGTGC	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1180G>T	17.37:g.19232056G>T	ENSP00000320543:p.Gly394Trp	41	0		67	3	NM_014964	A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121657	0.56613	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.37915	2.15;1.96;2.16;1.19;2.15;1.17	5.14	4.16	0.48862	.	0.521279	0.14840	U	0.295329	T	0.62514	0.2434	M	0.80746	2.51	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	0.996;0.986;1.0;1.0;1.0;0.996;0.999	P;P;D;D;D;P;D	0.83275	0.855;0.695;0.996;0.996;0.992;0.855;0.989	T	0.66097	-0.6008	10	0.87932	D	0	-8.9187	14.5474	0.68041	0.0749:0.0:0.9251:0.0	.	337;330;102;109;394;337;394	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E9PBC2;O95208	.;.;.;.;.;.;EPN2_HUMAN	W	337;109;394;337;337;394	ENSP00000261495:G337W;ENSP00000378980:G109W;ENSP00000320543:G394W;ENSP00000378990:G337W;ENSP00000378982:G337W;ENSP00000378988:G394W	ENSP00000320543:G394W	G	+	1	0	EPN2	19172649	1.000000	0.71417	0.978000	0.43139	0.088000	0.18126	6.546000	0.73887	2.546000	0.85860	0.561000	0.74099	GGG	.		0.607	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		T	19232056	G	T	19232056	3	4	19	1	0	0	0	0	1	0	0	0	5202	1232	43	3	1202	3	EPN2	17	19232056	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	8805193	19232056	61963154	133	2648											
DHRS13	147015	hgsc.bcm.edu	37	17	27228176	27228176	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:27228176C>T	ENST00000378895.4	-	4	640	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	DHRS13_ENST00000426464.2_Missense_Mutation_p.A91T|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.A122T|RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	172						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)			CGACAGTGGGCAGCTGAGGCT	0.612																																					p.A172T		.											DHRS13,NS,carcinoma,0,1	DHRS13	0	0			c.G514A						.						74	77	76					17																	27228176		2203	4300	6503	SO:0001583	missense	147015	exon4			AGTGGGCAGCTGA	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.514G>A	17.37:g.27228176C>T	ENSP00000368173:p.Ala172Thr	32	0		29	2	NM_144683	Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879456	0.72294	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.91521	-2.59;-2.59;-2.86	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.100382	0.64402	D	0.000002	D	0.94918	0.8357	M	0.70275	2.135	0.47308	D	0.999381	D;D	0.89917	1.0;1.0	D;D	0.75484	0.982;0.986	D	0.95253	0.8361	10	0.72032	D	0.01	.	17.9707	0.89112	0.0:1.0:0.0:0.0	.	91;172	B4DJC5;Q6UX07	.;DHR13_HUMAN	T	172;122;91	ENSP00000368173:A172T;ENSP00000378361:A122T;ENSP00000412826:A91T	ENSP00000368173:A172T	A	-	1	0	DHRS13	24252302	0.845000	0.29573	1.000000	0.80357	0.374000	0.29953	1.994000	0.40757	2.475000	0.83589	0.561000	0.74099	GCC	.		0.612	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		T	27228176	C	T	27228176	3	4	19	1	0	0	0	0	1	0	0	0	4503	710	25	3	627	3	DHRS13	17	27228176	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	7996120	27228176	53967034	134	2649											
GJC1	10052	bcgsc.ca	37	17	42882468	42882468	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:42882468C>T	ENST00000426548.1	-	3	987	c.718G>A	c.(718-720)Ggc>Agc	p.G240S	GJC1_ENST00000330514.4_Missense_Mutation_p.G240S|GJC1_ENST00000590758.1_Missense_Mutation_p.G240S|GJC1_ENST00000592524.1_Missense_Mutation_p.G240S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	240					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AGGCAAAGGCCTGTAACACCA	0.433																																					p.G240S													.	GJC1	45	0			c.G718A						.						118	116	117					17																	42882468		2203	4300	6503	SO:0001583	missense	10052	exon3			AAAGGCCTGTAAC	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.718G>A	17.37:g.42882468C>T	ENSP00000411528:p.Gly240Ser	22	0		21	3	NM_005497	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745046	0.30865	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.95342	-3.68;-3.68	5.28	5.28	0.74379	Gap junction protein, cysteine-rich domain (1);	0.120010	0.56097	D	0.000030	D	0.92737	0.7691	L	0.48218	1.51	0.42665	D	0.99349	B	0.26547	0.152	B	0.36766	0.232	D	0.90183	0.4244	10	0.33141	T	0.24	.	13.513	0.61524	0.1664:0.8336:0.0:0.0	.	240	P36383	CXG1_HUMAN	S	240	ENSP00000411528:G240S;ENSP00000333193:G240S	ENSP00000333193:G240S	G	-	1	0	GJC1	40237994	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.059000	0.49947	2.465000	0.83290	0.514000	0.50259	GGC	.		0.433	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		T	42882468	C	T	42882468	3	4	19	1	0	0	0	0	1	0	0	0	6440	681	24	3	476	3	GJC1	17	42882468	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	15654292	42882468	38312742	135	2650											
OR4D2	124538	hgsc.bcm.edu	37	17	56247070	56247070	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:56247070G>A	ENST00000545221.1	+	1	54	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S18S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGGGCTCTCGCAGACTCGGG	0.468																																					p.S18S		.											OR4D2,NS,carcinoma,0,1	OR4D2	0	1	Substitution - coding silent(1)	lung(1)	c.G54A						.						122	113	116					17																	56247070		2203	4300	6503	SO:0001819	synonymous_variant	124538	exon1			GCTCTCGCAGACT		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.54G>A	17.37:g.56247070G>A		40	0		47	2	NM_001004707	Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	CCDS32688.1																																																																																			.		0.468	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			A	56247070	G	A	56247070	2	1	19	1	0	0	0	0	0	0	0	1	11095	1074	38	1		1	OR4D2	17	56247070	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	13364602	56247070	24948140	136	2651											
HEATR6	63897	bcgsc.ca	37	17	58137371	58137371	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:58137371G>T	ENST00000184956.6	-	10	1519	c.1503C>A	c.(1501-1503)caC>caA	p.H501Q	HEATR6_ENST00000585976.1_Missense_Mutation_p.H501Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	501							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)			AAGCCCTTCTGTGGTCACTGG	0.473																																					p.H501Q													.	HEATR6	98	0			c.C1503A						.						161	157	159					17																	58137371		2203	4300	6503	SO:0001583	missense	63897	exon10			CCTTCTGTGGTCA	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.1503C>A	17.37:g.58137371G>T	ENSP00000184956:p.His501Gln	39	0		52	4	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078194	0.55753	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.31247	1.5	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.047496	0.85682	D	0.000000	T	0.40956	0.1138	N	0.25647	0.755	0.38687	D	0.952675	D;D	0.71674	0.998;0.998	D;P	0.66351	0.943;0.867	T	0.08006	-1.0743	10	0.15066	T	0.55	-17.347	19.2306	0.93839	0.0:0.0:1.0:0.0	.	348;501	E7ESB9;Q6AI08	.;HEAT6_HUMAN	Q	501;348	ENSP00000184956:H501Q	ENSP00000184956:H501Q	H	-	3	2	HEATR6	55492153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.773000	0.47686	2.869000	0.98440	0.558000	0.71614	CAC	.		0.473	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		T	58137371	G	T	58137371	3	4	19	1	0	0	0	0	1	0	0	0	7060	1368	48	3	2086	3	HEATR6	17	58137371	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	1890301	58137371	23057839	137	2652											
KIF19	124602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	72341086	72341086	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:72341086G>A	ENST00000389916.4	+	7	907	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	257	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						CTCAGAGCGCGCCTCGCAGGT	0.667																																					p.A257T		.											.	.	.	0			c.G769A						.						17	17	17					17																	72341086		2201	4294	6495	SO:0001583	missense	124602	exon7			GAGCGCGCCTCGC	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.769G>A	17.37:g.72341086G>A	ENSP00000374566:p.Ala257Thr	21	0		37	7	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087855	0.76642	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.73469	-0.75;-0.75	5.54	5.54	0.83059	Kinesin, motor domain (5);	.	.	.	.	D	0.86863	0.6035	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.997	D	0.87882	0.2678	9	0.72032	D	0.01	.	18.3053	0.90179	0.0:0.0:1.0:0.0	.	257;215;215;257	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	215;257	ENSP00000449134:A215T;ENSP00000374566:A257T	ENSP00000374566:A257T	A	+	1	0	KIF19	69852681	1.000000	0.71417	0.709000	0.30452	0.035000	0.12851	9.199000	0.95003	2.635000	0.89317	0.485000	0.47835	GCC	.		0.667	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72341086	G	A	72341086	3	1	19	1	0	0	0	0	1	0	0	0	8309	1087	38	1	795	1	KIF19	17	72341086	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	14203715	72341086	8854124	138	2653											
LRRC45	201255	ucsc.edu;bcgsc.ca	37	17	79987031	79987031	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr17:79987031G>T	ENST00000306688.3	+	13	1713	c.1371G>T	c.(1369-1371)agG>agT	p.R457S	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	457						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	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)			GGGTGCAGAGGCTGGAGGCGG	0.662																																					p.R457S													.	LRRC45	22	0			c.G1371T						.						38	39	39					17																	79987031		2192	4296	6488	SO:0001583	missense	201255	exon13			GCAGAGGCTGGAG	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1371G>T	17.37:g.79987031G>T	ENSP00000306760:p.Arg457Ser	26	0		25	4	NM_144999		Missense_Mutation	SNP	ENST00000306688.3	37	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900906	0.52227	.	.	ENSG00000169683	ENST00000306688	T	0.40756	1.02	4.27	2.24	0.28232	.	0.171615	0.50627	D	0.000108	T	0.34193	0.0889	M	0.67953	2.075	0.42146	D	0.991538	P	0.37781	0.608	B	0.34590	0.186	T	0.07462	-1.0771	9	.	.	.	-16.3437	5.4204	0.16398	0.1709:0.0:0.6697:0.1594	.	457	Q96CN5	LRC45_HUMAN	S	457	ENSP00000306760:R457S	.	R	+	3	2	LRRC45	77580320	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.736000	0.38187	0.370000	0.24538	-0.140000	0.14226	AGG	.		0.662	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		T	79987031	G	T	79987031	3	4	19	1	0	0	0	0	1	0	0	0	9037	1194	42	3	1421	3	LRRC45	17	79987031	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	7645945	79987031	1208179	139	2654											
LAMA3	3909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	21526190	21526190	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr18:21526190C>T	ENST00000313654.9	+	70	9534	c.9293C>T	c.(9292-9294)tCc>tTc	p.S3098F	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1433F|LAMA3_ENST00000399516.3_Missense_Mutation_p.S3042F|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1489F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3098	Laminin G-like 4. {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)					CCTGGAAACTCCACCATCAGC	0.507																																					p.S3098F		.											.	.	.	0			c.C9293T						.						118	95	102					18																	21526190		2203	4300	6503	SO:0001583	missense	3909	exon70			GAAACTCCACCAT	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.9293C>T	18.37:g.21526190C>T	ENSP00000324532:p.Ser3098Phe	43	0		36	7	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831959	0.16820	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.78816	-1.21;-1.21;-1.21	5.14	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.65471	0.2694	L	0.28694	0.88	0.38704	D	0.953057	B;B;B;B	0.22480	0.007;0.041;0.034;0.07	B;B;B;B	0.23419	0.011;0.034;0.022;0.046	T	0.63778	-0.6560	9	0.44086	T	0.13	.	8.4135	0.32657	0.0:0.7678:0.0:0.2322	.	1433;1489;3042;3098	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	F	3098;3042;1489	ENSP00000324532:S3098F;ENSP00000382432:S3042F;ENSP00000269217:S1489F	ENSP00000269217:S1489F	S	+	2	0	LAMA3	19780188	0.691000	0.27709	0.998000	0.56505	0.256000	0.26092	1.042000	0.30303	1.394000	0.46624	0.655000	0.94253	TCC	.		0.507	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21526190	C	T	21526190	3	4	19	1	0	0	0	0	1	0	0	0	8635	855	30	3	9746	3	LAMA3	18	21526190	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		21526190	56551058	140	2655											
CELF4	56853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	34853025	34853025	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr18:34853025G>A	ENST00000591282.1	-	7	902	c.903C>T	c.(901-903)gcC>gcT	p.A301A	CELF4_ENST00000334919.5_Silent_p.A291A|CELF4_ENST00000412753.1_Silent_p.A300A|CELF4_ENST00000588597.1_Silent_p.A290A|CELF4_ENST00000591287.1_Silent_p.A300A|CELF4_ENST00000420428.2_Silent_p.A301A|CELF4_ENST00000603232.1_Silent_p.A300A|CELF4_ENST00000361795.5_Silent_p.A299A|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000601019.1_Silent_p.A299A|RP11-797E24.3_ENST00000586610.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	301	Ala-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCATGTTGAGGGCCGCCATCT	0.667																																					p.A301A		.											.	.	.	0			c.C903T						.						30	33	32					18																	34853025		2203	4298	6501	SO:0001819	synonymous_variant	56853	exon7			GTTGAGGGCCGCC	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.903C>T	18.37:g.34853025G>A		45	0		45	15	NM_020180	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																			.		0.667	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		A	34853025	G	A	34853025	2	1	19	1	0	0	0	0	0	0	0	1	3225	1219	43	3		3	CELF4	18	34853025	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	13326835	34853025	43224223	141	2656											
NETO1	81832	hgsc.bcm.edu	37	18	70450978	70450978	+	Missense_Mutation	SNP	C	C	T	rs370635787		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr18:70450978C>T	ENST00000327305.6	-	7	1460	c.803G>A	c.(802-804)cGc>cAc	p.R268H	NETO1_ENST00000299430.2_Missense_Mutation_p.R267H|NETO1_ENST00000583169.1_Missense_Mutation_p.R268H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	268	CUB 2. {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)		p.R268H(1)		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)		TGCCCACATGCGGATCACCCC	0.478																																					p.R268H		.											NETO1,colon,carcinoma,0,1	NETO1	0	1	Substitution - Missense(1)	large_intestine(1)	c.G803A						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	182	156	165		803,803	5.5	1	18		165	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NETO1	NM_001201465.1,NM_138966.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	268/534,268/534	70450978	1,13005	2203	4300	6503	SO:0001583	missense	81832	exon7			CACATGCGGATCA	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.803G>A	18.37:g.70450978C>T	ENSP00000313088:p.Arg268His	32	0		40	3	NM_001201465	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	36	5.741754	0.96873	0.0	1.16E-4	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.18960	2.18;2.18	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000011	T	0.51007	0.1649	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.976	D;P	0.80764	0.994;0.642	T	0.52540	-0.8562	10	0.87932	D	0	-34.3662	19.8487	0.96730	0.0:1.0:0.0:0.0	.	267;268	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	268;267	ENSP00000313088:R268H;ENSP00000299430:R267H	ENSP00000299430:R267H	R	-	2	0	NETO1	68601958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.748000	0.94277	0.650000	0.86243	CGC	.		0.478	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		T	70450978	C	T	70450978	3	4	19	1	0	0	0	0	1	0	0	0	10378	768	27	1	814	1	NETO1	18	70450978	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	35597953	70450978	7626270	142	2657											
GATAD2A	54815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	19576284	19576284	+	Missense_Mutation	SNP	G	G	A	rs527342598		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:19576284G>A	ENST00000360315.3	+	2	442	c.130G>A	c.(130-132)Gga>Aga	p.G44R	GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000404158.1_Missense_Mutation_p.G44R|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G44R|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G44R|GATAD2A_ENST00000429563.2_5'Flank	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	44					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						AAACACTGACGGAGACATGAG	0.547													G|||	1	0.000199681	0	0	5008	,	,		20086	0		0.001	False		,,,				2504	0				p.G44R		.											.	.	.	0			c.G130A						.						88	88	88					19																	19576284		1568	3582	5150	SO:0001583	missense	54815	exon2			ACTGACGGAGACA	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.130G>A	19.37:g.19576284G>A	ENSP00000353463:p.Gly44Arg	42	0		45	13	NM_017660	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484631	0.44147	.	.	ENSG00000167491	ENST00000417582;ENST00000360315;ENST00000252577;ENST00000457895;ENST00000432704;ENST00000404158;ENST00000429242;ENST00000358713;ENST00000444839	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.52	2.23	0.28157	.	0.386750	0.29537	N	0.011877	T	0.34308	0.0893	L	0.47716	1.5	0.51482	D	0.999928	D;D	0.57257	0.979;0.977	B;B	0.42319	0.383;0.383	T	0.19582	-1.0301	10	0.66056	D	0.02	-24.331	9.6	0.39598	0.232:0.0:0.768:0.0	.	63;44	B5MC40;Q86YP4	.;P66A_HUMAN	R	44;44;44;44;44;63;44;44;44	ENSP00000403703:G44R;ENSP00000353463:G44R;ENSP00000252577:G44R;ENSP00000404212:G44R;ENSP00000390495:G44R;ENSP00000414252:G44R;ENSP00000351552:G44R;ENSP00000407293:G44R	ENSP00000252577:G44R	G	+	1	0	GATAD2A	19437284	0.808000	0.29022	0.022000	0.16811	0.955000	0.61496	1.437000	0.34991	0.708000	0.31955	0.655000	0.94253	GGA	.		0.547	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		A	19576284	G	A	19576284	3	1	19	1	0	0	0	0	1	0	0	0	6285	1117	39	1	132	1	GATAD2A	19	19576284	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		19576284	39552699	143	2658											
ZNF14	7561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	19822519	19822519	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:19822519A>T	ENST00000344099.3	-	4	1709	c.1571T>A	c.(1570-1572)aTt>aAt	p.I524N		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	524					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(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCCAGTGTGAATTTTTTCATG	0.408																																					p.I524N		.											.	.	.	0			c.T1571A						.						101	96	98					19																	19822519		2203	4300	6503	SO:0001583	missense	7561	exon4			GTGTGAATTTTTT	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1571T>A	19.37:g.19822519A>T	ENSP00000340514:p.Ile524Asn	37	0		40	12	NM_021030	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.029708	0.35797	.	.	ENSG00000105708	ENST00000344099	T	0.07567	3.18	1.8	-0.102	0.13613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	L	0.58810	1.83	0.09310	N	1	P	0.41080	0.737	P	0.45971	0.499	T	0.18935	-1.0321	9	0.72032	D	0.01	.	4.6844	0.12750	0.691:0.0:0.309:0.0	.	524	P17017	ZNF14_HUMAN	N	524	ENSP00000340514:I524N	ENSP00000340514:I524N	I	-	2	0	ZNF14	19683519	0.002000	0.14202	0.003000	0.11579	0.649000	0.38597	0.231000	0.17872	-0.248000	0.09583	0.383000	0.25322	ATT	.		0.408	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		T	19822519	A	T	19822519	3	4	19	1	0	0	0	0	1	0	0	0	17776	101	4	5	361	5	ZNF14	19	19822519	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	246235	19822519	39306464	144	2659											
ZNF431	170959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	21350428	21350428	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:21350428C>T	ENST00000311048.7	+	4	422	c.278C>T	c.(277-279)cCc>cTc	p.P93L	ZNF431_ENST00000599296.1_Missense_Mutation_p.P93L|ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_Missense_Mutation_p.P93L	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.P93H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GAAAAAGAGCCCTGGAATATG	0.398																																					p.P93L		.											ZNF431,NS,carcinoma,0,1	ZNF431	0	1	Substitution - Missense(1)	endometrium(1)	c.C278T						.						77	83	81					19																	21350428		2203	4300	6503	SO:0001583	missense	170959	exon4			AAGAGCCCTGGAA	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.278C>T	19.37:g.21350428C>T	ENSP00000308578:p.Pro93Leu	66	0		72	10	NM_133473	A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	6.485	0.457757	0.12342	.	.	ENSG00000196705	ENST00000311048	T	0.09630	2.96	0.43	0.43	0.16515	Krueppel-associated box (2);	.	.	.	.	T	0.25158	0.0611	M	0.67625	2.065	0.09310	N	1	D	0.63880	0.993	D	0.67382	0.951	T	0.05402	-1.0887	8	0.72032	D	0.01	.	.	.	.	.	93	Q8TF32	ZN431_HUMAN	L	93	ENSP00000308578:P93L	ENSP00000308578:P93L	P	+	2	0	ZNF431	21142268	0.049000	0.20398	0.113000	0.21522	0.108000	0.19459	0.845000	0.27668	0.459000	0.27016	0.462000	0.41574	CCC	.		0.398	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		T	21350428	C	T	21350428	3	4	19	1	0	0	0	0	1	0	0	0	17953	623	22	3	292	3	ZNF431	19	21350428	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	1527909	21350428	37778555	145	2660											
ZNF100	163227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	21910039	21910039	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:21910039T>C	ENST00000358296.6	-	5	1273	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	ZNF100_ENST00000305570.6_Missense_Mutation_p.T295A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGTAAGGGTTGAGGACTGG	0.388																																					p.T359A		.											.	.	.	0			c.A1075G						.						69	73	72					19																	21910039		2200	4295	6495	SO:0001583	missense	163227	exon5			TAAGGGTTGAGGA	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.1075A>G	19.37:g.21910039T>C	ENSP00000351042:p.Thr359Ala	63	0		53	8	NM_173531	Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.821944	0.00072	.	.	ENSG00000197020	ENST00000358296	T	0.06849	3.25	0.841	-0.455	0.12193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	N	0.01202	-0.96	0.09310	N	1	B;B	0.24092	0.009;0.097	B;B	0.23852	0.049;0.034	T	0.47005	-0.9150	9	0.15066	T	0.55	.	2.6908	0.05120	0.0:0.2373:0.27:0.4927	.	359;413	Q8IYN0;Q4G131	ZN100_HUMAN;.	A	359	ENSP00000351042:T359A	ENSP00000351042:T359A	T	-	1	0	ZNF100	21701879	0.000000	0.05858	0.117000	0.21633	0.117000	0.20001	-4.007000	0.00315	0.157000	0.19338	0.155000	0.16302	ACC	.		0.388	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		C	21910039	T	C	21910039	3	2	19	1	0	0	0	0	1	0	0	0	17761	1725	60	4	557	4	ZNF100	19	21910039	Missense_Mutation	SNP	T	TCGA-W5-AA30-01A-31D-A417-09	559611	21910039	37218944	146	2661											
PDCD2L	84306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	34916999	34916999	+	Missense_Mutation	SNP	G	G	A	rs372339509		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:34916999G>A	ENST00000246535.3	+	7	1098	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	UBA2_ENST00000246548.4_5'Flank|CTD-2588C8.8_ENST00000592220.1_RNA|PDCD2L_ENST00000587065.2_Missense_Mutation_p.D49N|UBA2_ENST00000439527.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	351					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TATACAAGAAGACCCAGATGA	0.308																																					p.D351N		.											.	.	.	0			c.G1051A						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	63	65	64		1051	5.6	1	19		64	0,8600		0,0,4300	no	missense	PDCD2L	NM_032346.1	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	351/359	34916999	1,13005	2203	4300	6503	SO:0001583	missense	84306	exon7			CAAGAAGACCCAG	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.1051G>A	19.37:g.34916999G>A	ENSP00000246535:p.Asp351Asn	73	0		84	16	NM_032346		Missense_Mutation	SNP	ENST00000246535.3	37	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950010	0.92660	2.27E-4	0.0	ENSG00000126249	ENST00000246535	.	.	.	5.56	5.56	0.83823	Programmed cell death protein 2, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.74881	2.28	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.78755	-0.2080	9	0.44086	T	0.13	-22.0659	18.297	0.90150	0.0:0.0:1.0:0.0	.	351	Q9BRP1	PDD2L_HUMAN	N	351	.	ENSP00000246535:D351N	D	+	1	0	PDCD2L	39608839	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.238000	0.78173	2.624000	0.88883	0.650000	0.86243	GAC	.		0.308	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		A	34916999	G	A	34916999	3	1	19	1	0	0	0	0	1	0	0	0	11659	942	33	3	1077	3	PDCD2L	19	34916999	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	13006960	34916999	24211984	147	2662											
SERTAD1	29950	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	40929001	40929001	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:40929001G>A	ENST00000357949.4	-	2	611	c.453C>T	c.(451-453)agC>agT	p.S151S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	151					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCACCCAGGCTGGGCGCTG	0.622																																					p.S151S													.	SERTAD1	18	0			c.C453T						.						14	13	14					19																	40929001		2191	4288	6479	SO:0001819	synonymous_variant	29950	exon2			ACCCAGGCTGGGC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"CDK4-binding protein p34SEI", "transcriptional regulator interacting with the PHD-bromodomain 1"					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.453C>T	19.37:g.40929001G>A		37	0		29	4	NM_013376	Q9BUE7	Silent	SNP	ENST00000357949.4	37	CCDS12557.1																																																																																			.		0.622	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		A	40929001	G	A	40929001	2	1	19	1	0	0	0	0	0	0	0	1	14165	1194	42	3		3	SERTAD1	19	40929001	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	6012002	40929001	18199982	148	2663											
MIA	8190	hgsc.bcm.edu	37	19	41281791	41281791	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:41281791G>T	ENST00000263369.3	+	2	427		c.e2+1		MIA-RAB4B_ENST00000600729.1_Splice_Site|RAB4B-EGLN2_ENST00000594136.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|MIA_ENST00000594436.1_Splice_Site|MIA_ENST00000597784.1_Splice_Site|RAB4B_ENST00000594800.1_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity						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)		GGGAGGCAGCGTGAGTCTTGG	0.562																																					.		.											.	.	.	0			c.261+1G>T						.						43	47	46					19																	41281791		2203	4300	6503	SO:0001630	splice_region_variant	8190	exon3			GGCAGCGTGAGTC	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.261+1G>T	19.37:g.41281791G>T		77	0		63	4	NM_001202553	Q6FHV3	Splice_Site	SNP	ENST00000263369.3	37	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952922	0.73787	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0974	0.86639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB4B	45973631	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.501000	0.81600	2.298000	0.77334	0.561000	0.74099	.	.		0.562	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1		Intron	T	41281791	G	T	41281791	5	4	19	1	0	0	0	0	0	0	1	0	9601	1159	40	2	268	2	MIA	19	41281791	Splice_Site	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	352790	41281791	17847192	149	2664											
PVR	5817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45162133	45162133	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:45162133G>T	ENST00000425690.3	+	6	1414	c.1115G>T	c.(1114-1116)cGt>cTt	p.R372L	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Intron|PVR_ENST00000406449.4_Missense_Mutation_p.R372L|PVR_ENST00000403059.4_Intron	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	372	DYNLT1 binding.				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)		AAATGTTCCCGTGAGGTCCTT	0.517																																					p.R372L		.											.	.	.	0			c.G1115T						.						171	158	162					19																	45162133		2203	4300	6503	SO:0001583	missense	5817	exon6			GTTCCCGTGAGGT	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.1115G>T	19.37:g.45162133G>T	ENSP00000402060:p.Arg372Leu	34	0		29	12	NM_006505	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725737	0.30593	.	.	ENSG00000073008	ENST00000425690;ENST00000406449	D;D	0.90385	-2.66;-2.36	2.65	2.65	0.31530	.	2.671990	0.01889	U	0.038386	D	0.88310	0.6402	L	0.42245	1.32	0.35874	D	0.828469	B;B	0.27823	0.159;0.19	B;B	0.29176	0.099;0.062	T	0.78041	-0.2359	10	0.51188	T	0.08	.	8.9593	0.35838	0.0:0.0:1.0:0.0	.	372;372	P15151-4;P15151	.;PVR_HUMAN	L	372	ENSP00000402060:R372L;ENSP00000383907:R372L	ENSP00000383907:R372L	R	+	2	0	PVR	49853973	0.951000	0.32395	0.288000	0.24862	0.002000	0.02628	2.445000	0.44899	1.795000	0.52594	0.555000	0.69702	CGT	.		0.517	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		T	45162133	G	T	45162133	3	4	19	1	0	0	0	0	1	0	0	0	12882	1145	40	2	1137	2	PVR	19	45162133	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	3880342	45162133	13966850	150	2665											
FPR1	2357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52249678	52249678	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:52249678C>A	ENST00000595042.1	-	3	711	c.570G>T	c.(568-570)agG>agT	p.R190S	FPR1_ENST00000304748.4_Missense_Mutation_p.R190S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	190			R -> W (in dbSNP:rs5030880).		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)	CCACATTTATCCTCTCTTTAG	0.498																																					p.R190S		.											.	.	.	0			c.G570T						.						114	106	109					19																	52249678		2203	4300	6503	SO:0001583	missense	2357	exon3			ATTTATCCTCTCT	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.570G>T	19.37:g.52249678C>A	ENSP00000471493:p.Arg190Ser	36	0		44	13	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	8.077	0.771621	0.16051	.	.	ENSG00000171051	ENST00000304748	T	0.61510	0.1	3.66	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.659654	0.12541	N	0.459864	T	0.49304	0.1549	L	0.45137	1.4	0.09310	N	1	B	0.23316	0.083	B	0.36186	0.219	T	0.45948	-0.9226	10	0.23302	T	0.38	.	6.247	0.20825	0.0:0.6532:0.0:0.3467	.	190	P21462	FPR1_HUMAN	S	190	ENSP00000302707:R190S	ENSP00000302707:R190S	R	-	3	2	FPR1	56941490	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.246000	0.18160	0.300000	0.22699	0.655000	0.94253	AGG	.		0.498	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		A	52249678	C	A	52249678	3	1	19	1	0	0	0	0	1	0	0	0	6062	854	30	3	486	3	FPR1	19	52249678	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	7087545	52249678	6879305	151	2666											
ZNF534	147658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52941195	52941195	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:52941195A>T	ENST00000332323.6	+	4	582	c.521A>T	c.(520-522)aAt>aTt	p.N174I	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.N161I	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	174					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						CATATTTTTAATAACTACAGA	0.318																																					p.N174I		.											.	.	.	0			c.A521T						.						75	69	71					19																	52941195		1568	3582	5150	SO:0001583	missense	147658	exon4			TTTTTAATAACTA	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.521A>T	19.37:g.52941195A>T	ENSP00000327538:p.Asn174Ile	29	0		28	6	NM_001143939	Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.228027	0.39399	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.08193	3.12;3.19	1.61	1.61	0.23674	.	.	.	.	.	T	0.22437	0.0541	M	0.84511	2.7	0.47476	D	0.999438	P;D	0.63880	0.921;0.993	P;P	0.59288	0.498;0.855	T	0.01578	-1.1320	9	0.56958	D	0.05	.	6.5079	0.22206	1.0:0.0:0.0:0.0	.	161;174	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	I	174;161;173	ENSP00000327538:N174I;ENSP00000391358:N161I	ENSP00000327538:N174I	N	+	2	0	ZNF534	57633007	0.015000	0.18098	0.010000	0.14722	0.048000	0.14542	1.654000	0.37334	0.712000	0.32039	0.164000	0.16699	AAT	.		0.318	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		T	52941195	A	T	52941195	3	4	19	1	0	0	0	0	1	0	0	0	18021	101	4	5	535	5	ZNF534	19	52941195	Missense_Mutation	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	691517	52941195	6187788	152	2667											
ZNF543	125919	hgsc.bcm.edu	37	19	57840047	57840047	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr19:57840047G>A	ENST00000321545.4	+	4	1562	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	406					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.R406H(1)		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)		GCGTTCAACCGTAGGTCACAC	0.498																																					p.R406H		.											ZNF543,colon,carcinoma,0,1	ZNF543	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1217A						.						104	78	87					19																	57840047		2203	4300	6503	SO:0001583	missense	125919	exon4			TCAACCGTAGGTC	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.1217G>A	19.37:g.57840047G>A	ENSP00000322545:p.Arg406His	35	0		46	2	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722049	0.03182	.	.	ENSG00000178229	ENST00000321545	T	0.07327	3.2	2.89	-1.9	0.07665	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.25485	0.75	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46512	-0.9186	9	0.02654	T	1	.	7.6687	0.28447	0.715:0.0:0.285:0.0	.	406	Q08ER8	ZN543_HUMAN	H	406	ENSP00000322545:R406H	ENSP00000322545:R406H	R	+	2	0	ZNF543	62531859	0.000000	0.05858	0.004000	0.12327	0.559000	0.35586	-1.887000	0.01617	-0.191000	0.10448	-0.291000	0.09656	CGT	.		0.498	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		A	57840047	G	A	57840047	3	1	19	1	0	0	0	0	1	0	0	0	18024	1145	40	1	1231	1	ZNF543	19	57840047	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	4898852	57840047	1288936	153	2668											
ANGPT4	51378	hgsc.bcm.edu;ucsc.edu	37	20	870928	870928	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr20:870928C>T	ENST00000381922.3	-	2	495	c.393G>A	c.(391-393)atG>atA	p.M131I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.M131I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	131					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						CCAGCTCTAGCATGGGGGCCG	0.602																																					p.M131I	Pancreas(181;481 2077 3259 31286 49856)	.											.	.	.	0			c.G393A						.						95	81	85					20																	870928		2203	4300	6503	SO:0001583	missense	51378	exon2			CTCTAGCATGGGG	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.393G>A	20.37:g.870928C>T	ENSP00000371347:p.Met131Ile	21	0		35	4	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	c	11.06	1.529090	0.27387	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.19105	2.17;2.17	4.38	2.41	0.29592	.	0.285363	0.29707	N	0.011406	T	0.20495	0.0493	M	0.72353	2.195	0.35438	D	0.794631	B;B	0.17465	0.022;0.009	B;B	0.09377	0.004;0.004	T	0.11108	-1.0601	10	0.29301	T	0.29	.	7.3629	0.26756	0.0:0.732:0.171:0.0969	.	131;131	B4E3J9;Q9Y264	.;ANGP4_HUMAN	I	131	ENSP00000371347:M131I;ENSP00000439605:M131I	ENSP00000371347:M131I	M	-	3	0	ANGPT4	818928	1.000000	0.71417	0.979000	0.43373	0.119000	0.20118	3.608000	0.54109	0.459000	0.27016	0.450000	0.29827	ATG	.		0.602	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		T	870928	C	T	870928	3	4	19	1	0	0	0	0	1	0	0	0	612	710	25	3	1150	3	ANGPT4	20	870928	Missense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09		870928	62154592	154	2669											
FERMT1	55612	hgsc.bcm.edu;broad.mit.edu	37	20	6093271	6093271	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr20:6093271C>T	ENST00000217289.4	-	4	1174		c.e4-1		FERMT1_ENST00000536936.1_Splice_Site	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						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						CTTCTAATATCTAGaaataaa	0.279																																					.		.											FERMT1_ENST00000339538,NS,adenocarcinoma,0,2	FERMT1_ENST00000339538	0	0			c.386-1G>A						.						29	31	30					20																	6093271		2165	4273	6438	SO:0001630	splice_region_variant	55612	exon5			TAATATCTAGAAA	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.386-1G>A	20.37:g.6093271C>T		52	0		43	4	NM_017671	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	ENST00000217289.4	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608654	0.66558	.	.	ENSG00000101311	ENST00000217289;ENST00000339538;ENST00000378844	.	.	.	5.63	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8469	0.70267	0.0:0.9308:0.0:0.0692	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6041271	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	7.011000	0.76359	1.515000	0.48885	0.655000	0.94253	.	.		0.279	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	Intron	T	6093271	C	T	6093271	5	4	19	1	0	0	0	0	0	0	1	0	5839	927	32	3	1696	3	FERMT1	20	6093271	Splice_Site	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	5222343	6093271	56932249	155	2670											
CTNNBL1	56259	hgsc.bcm.edu	37	20	36396410	36396410	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr20:36396410G>A	ENST00000361383.6	+	7	831	c.714G>A	c.(712-714)caG>caA	p.Q238Q	CTNNBL1_ENST00000405275.2_Silent_p.Q211Q|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Silent_p.Q51Q	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	238					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)	p.Q238Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGGGTGCCCAGCAGGGTCTTC	0.522																																					p.Q238Q	Ovarian(184;582 2038 3273 4106 42608)	.											CTNNBL1,NS,carcinoma,0,1	CTNNBL1	0	1	Substitution - coding silent(1)	endometrium(1)	c.G714A						.						119	118	119					20																	36396410		2203	4300	6503	SO:0001819	synonymous_variant	56259	exon7			TGCCCAGCAGGGT	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.714G>A	20.37:g.36396410G>A		37	0		43	3	NM_030877	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	ENST00000361383.6	37	CCDS13298.1																																																																																			.		0.522	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		A	36396410	G	A	36396410	2	1	19	1	0	0	0	0	0	0	0	1	4027	962	34	3		3	CTNNBL1	20	36396410	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	30303139	36396410	26629110	156	2671											
MYBL2	4605	hgsc.bcm.edu;bcgsc.ca	37	20	42311453	42311453	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr20:42311453G>T	ENST00000217026.4	+	4	333	c.206G>T	c.(205-207)tGc>tTc	p.C69F	MYBL2_ENST00000396863.4_Missense_Mutation_p.C45F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	69	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)			GACCAGCAATGCCAGTACAGG	0.517																																					p.C69F		.											.	.	.	0			c.G206T						.						230	225	227					20																	42311453		2203	4300	6503	SO:0001583	missense	4605	exon4			AGCAATGCCAGTA		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.206G>T	20.37:g.42311453G>T	ENSP00000217026:p.Cys69Phe	45	0		72	4	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587195	0.86851	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.24723	2.1;1.84	5.3	5.3	0.74995	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.99498	4.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85115	0.0965	10	0.87932	D	0	-27.6446	18.1122	0.89539	0.0:0.0:1.0:0.0	.	45;69	F8W6N6;P10244	.;MYBB_HUMAN	F	45;69	ENSP00000380072:C45F;ENSP00000217026:C69F	ENSP00000217026:C69F	C	+	2	0	MYBL2	41744867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.652000	0.98499	2.661000	0.90470	0.650000	0.86243	TGC	.		0.517	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42311453	G	T	42311453	3	4	19	1	0	0	0	0	1	0	0	0	10048	1319	46	3	220	3	MYBL2	20	42311453	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5915043	42311453	20714067	157	2672											
CSE1L	1434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	47683047	47683047	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr20:47683047G>A	ENST00000262982.2	+	5	599	c.476G>A	c.(475-477)aGa>aAa	p.R159K	CSE1L_ENST00000396192.3_Splice_Site_p.R159K|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	159					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTATTTAAAAGGTATTGATGC	0.338																																					p.R159K		.											.	.	.	0			c.G476A						.						70	67	68					20																	47683047		2203	4300	6503	SO:0001630	splice_region_variant	1434	exon5			TTAAAAGGTATTG	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.476+1G>A	20.37:g.47683047G>A		32	0		49	20	NM_001256135	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569886	0.65765	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.66099	-0.19;-0.19	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.33792	1.035	0.80722	D	1	B;P	0.40476	0.296;0.718	B;B	0.39771	0.101;0.309	T	0.48906	-0.8993	10	0.09338	T	0.73	-15.2296	18.7192	0.91687	0.0:0.0:1.0:0.0	.	159;159	F8W904;P55060	.;XPO2_HUMAN	K	159	ENSP00000262982:R159K;ENSP00000379495:R159K	ENSP00000262982:R159K	R	+	2	0	CSE1L	47116454	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.768000	0.98965	2.481000	0.83766	0.455000	0.32223	AGA	.		0.338	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316	Missense_Mutation	A	47683047	G	A	47683047	5	1	19	1	0	0	0	0	0	0	1	0	3939	1014	35	3	490	3	CSE1L	20	47683047	Splice_Site	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	5371594	47683047	15342473	158	2673											
C20orf106	200232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	55100881	55100881	+	Nonsense_Mutation	SNP	C	C	T	rs368902169		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr20:55100881C>T	ENST00000371328.3	+	2	594	c.271C>T	c.(271-273)Cga>Tga	p.R91*	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCTGGCCTTCGAGGCGGCCA	0.438													C|||	1	0.000199681	0	0	5008	,	,		21663	0		0	False		,,,				2504	0.001				p.R91X		.											C20orf106,NS,carcinoma,0,1	C20orf106	0	0			c.C271T						.	C	stop/ARG,	0,4406		0,0,2203	131	138	136		271,	2.7	0	20		136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,utr-5	GCNT7,C20orf106	NM_001012971.3,NM_080615.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	91/172,	55100881	1,13005	2203	4300	6503	SO:0001587	stop_gained	200232	exon2			GGCCTTCGAGGCG	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.271C>T	20.37:g.55100881C>T	ENSP00000360379:p.Arg91*	31	0		31	6	NM_001012971	Q05C43	Nonsense_Mutation	SNP	ENST00000371328.3	37	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713820	0.89112	0.0	1.16E-4	ENSG00000124103	ENST00000371328	.	.	.	3.7	2.67	0.31697	.	0.682160	0.12082	N	0.501260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8967	9.5912	0.39548	0.0:0.7846:0.2154:0.0	.	.	.	.	X	91	.	ENSP00000360379:R91X	R	+	1	2	C20orf106	54534288	0.167000	0.22975	0.005000	0.12908	0.029000	0.11900	1.117000	0.31234	1.796000	0.52611	0.411000	0.27672	CGA	.		0.438	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			T	55100881	C	T	55100881	4	4	19	1	0	0	0	0	0	1	0	0	2083	876	31	1	277	1	C20orf106	20	55100881	Nonsense_Mutation	SNP	C	TCGA-W5-AA30-01A-31D-A417-09	7417834	55100881	7924639	159	2674											
SLC17A9	63910	hgsc.bcm.edu	37	20	61594022	61594022	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr20:61594022G>T	ENST00000370351.4	+	5	675	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.G176C	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	182					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.G182S(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGAATGGTACGGCTGGCAGAG	0.637																																					p.G182C		.											SLC17A9,NS,carcinoma,0,1	SLC17A9	0	1	Substitution - Missense(1)	endometrium(1)	c.G544T						.						95	114	108					20																	61594022		2003	4154	6157	SO:0001583	missense	63910	exon5			TGGTACGGCTGGC	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.544G>T	20.37:g.61594022G>T	ENSP00000359376:p.Gly182Cys	53	0		38	2	NM_022082	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205739	0.58234	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.72051	-0.62;-0.62	4.39	2.35	0.29111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050352	0.85682	D	0.000000	D	0.85383	0.5684	M	0.92077	3.27	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.996	D;D;D	0.80764	0.994;0.992;0.992	D	0.85682	0.1301	10	0.87932	D	0	.	10.0682	0.42317	0.174:0.0:0.826:0.0	.	202;182;176	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	C	182;176	ENSP00000359376:G182C;ENSP00000359374:G176C	ENSP00000359374:G176C	G	+	1	0	SLC17A9	61064467	1.000000	0.71417	0.976000	0.42696	0.601000	0.36947	4.177000	0.58276	0.386000	0.24997	-0.424000	0.05967	GGC	.		0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		T	61594022	G	T	61594022	3	4	19	1	0	0	0	0	1	0	0	0	14469	1116	39	2	562	2	SLC17A9	20	61594022	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	6493141	61594022	1431498	160	2675											
HUNK	30811	hgsc.bcm.edu	37	21	33362484	33362484	+	Missense_Mutation	SNP	G	G	T	rs367545209		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr21:33362484G>T	ENST00000270112.2	+	9	1660	c.1300G>T	c.(1300-1302)Gtg>Ttg	p.V434L	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	434					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						ATTCCATGCCGTGCAGGTAAG	0.438																																					p.V434L		.											HUNK,NS,carcinoma,0,1	HUNK	0	0			c.G1300T						.						120	112	115					21																	33362484		2203	4300	6503	SO:0001583	missense	30811	exon9			CATGCCGTGCAGG	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.1300G>T	21.37:g.33362484G>T	ENSP00000270112:p.Val434Leu	35	0		33	2	NM_014586		Missense_Mutation	SNP	ENST00000270112.2	37	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	8.464	0.856084	0.17106	.	.	ENSG00000142149	ENST00000270112;ENST00000439107	T	0.66638	-0.22	4.0	2.13	0.27403	.	0.613740	0.15215	N	0.274279	T	0.47021	0.1423	N	0.14661	0.345	0.29457	N	0.858058	B	0.09022	0.002	B	0.06405	0.002	T	0.41270	-0.9518	10	0.38643	T	0.18	-10.6358	10.3216	0.43769	0.0:0.391:0.609:0.0	.	434	P57058	HUNK_HUMAN	L	434;48	ENSP00000270112:V434L	ENSP00000270112:V434L	V	+	1	0	HUNK	32284355	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.569000	0.45973	0.611000	0.30052	0.655000	0.94253	GTG	.		0.438	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		T	33362484	G	T	33362484	3	4	19	1	0	0	0	0	1	0	0	0	7485	1145	40	2	1334	2	HUNK	21	33362484	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		33362484	14767411	161	2676											
C22orf42	150297	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	32555003	32555003	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chr22:32555003G>T	ENST00000382097.3	-	1	272	c.200C>A	c.(199-201)cCg>cAg	p.P67Q	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGGCGTCTTCGGGAGGCTGAG	0.557																																					p.P67Q		.											.	.	.	0			c.C200A						.						181	175	177					22																	32555003		2203	4300	6503	SO:0001583	missense	150297	exon1			GTCTTCGGGAGGC	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.200C>A	22.37:g.32555003G>T	ENSP00000371529:p.Pro67Gln	33	0		28	4	NM_001010859	A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	2.942	-0.218719	0.06101	.	.	ENSG00000205856	ENST00000382097	T	0.21932	1.98	.	.	.	.	.	.	.	.	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	D	0.66716	0.946	T	0.25537	-1.0129	7	0.22109	T	0.4	.	.	.	.	.	67	Q6IC83	CV042_HUMAN	Q	67	ENSP00000371529:P67Q	ENSP00000371529:P67Q	P	-	2	0	C22orf42	30885003	0.003000	0.15002	0.025000	0.17156	0.029000	0.11900	0.226000	0.17776	0.064000	0.16427	0.064000	0.15345	CCG	.		0.557	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		T	32555003	G	T	32555003	3	4	19	1	0	0	0	0	1	0	0	0	2156	1116	39	2	591	2	C22orf42	22	32555003	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		32555003	18749563	162	2677											
ARSH	347527	bcgsc.ca	37	X	2945415	2945415	+	Silent	SNP	G	G	T	rs373570475		TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chrX:2945415G>T	ENST00000381130.2	+	7	1098	c.1098G>T	c.(1096-1098)ccG>ccT	p.P366P		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	366					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)				TCCGGTGGCCGTCAGTCTTGG	0.507																																					p.P366P													.	ARSH	72	0			c.G1098T						.						182	141	155					X																	2945415		2203	4300	6503	SO:0001819	synonymous_variant	347527	exon7			GTGGCCGTCAGTC	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.1098G>T	X.37:g.2945415G>T		33	0		21	3	NM_001011719		Silent	SNP	ENST00000381130.2	37	CCDS35198.1																																																																																			.		0.507	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		T	2945415	G	T	2945415	2	4	19	1	0	0	0	0	0	0	0	1	994	1132	40	2		2	ARSH	23	2945415	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09		2945415	152325145	163	2678											
RPS6KA3	6197	broad.mit.edu	37	X	20179855	20179855	+	Silent	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chrX:20179855A>G	ENST00000379565.3	-	20	2073	c.1866T>C	c.(1864-1866)ccT>ccC	p.P622P	RPS6KA3_ENST00000379548.4_Silent_p.P592P|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Silent_p.P594P|RPS6KA3_ENST00000540702.1_Silent_p.P593P	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	622	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|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 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)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GTGTATCATCAGGACCATTTG	0.323																																					p.P622P													.	RPS6KA3	110	0			c.T1866C						.						119	93	102					X																	20179855		2203	4300	6503	SO:0001819	synonymous_variant	6197	exon20			ATCATCAGGACCA	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1866T>C	X.37:g.20179855A>G		39	0		70	4	NM_004586	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	CCDS14197.1																																																																																			.		0.323	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		G	20179855	A	G	20179855	2	3	19	1	0	0	0	0	0	0	0	1	13697	175	7	4		4	RPS6KA3	23	20179855	Silent	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	17234440	20179855	135090705	164	2679											
DDX53	168400	ucsc.edu;bcgsc.ca	37	X	23018970	23018970	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chrX:23018970G>A	ENST00000327968.5	+	1	884	c.796G>A	c.(796-798)Gca>Aca	p.A266T	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	266	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					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						TATAGTAGTTGCACAAACCGG	0.408																																					p.A266T													.	DDX53	76	0			c.G796A						.						77	73	75					X																	23018970		2203	4300	6503	SO:0001583	missense	168400	exon1			GTAGTTGCACAAA	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.796G>A	X.37:g.23018970G>A	ENSP00000368667:p.Ala266Thr	56	0		36	4	NM_182699	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973458	0.34848	.	.	ENSG00000184735	ENST00000327968	T	0.22539	1.95	4.07	1.12	0.20585	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	H	0.99379	4.54	0.33876	D	0.635575	D	0.76494	0.999	D	0.71184	0.972	T	0.65611	-0.6126	10	0.87932	D	0	-3.475	5.4464	0.16537	0.1029:0.0:0.5485:0.3486	.	266	Q86TM3	DDX53_HUMAN	T	266	ENSP00000368667:A266T	ENSP00000368667:A266T	A	+	1	0	DDX53	22928891	1.000000	0.71417	0.001000	0.08648	0.015000	0.08874	5.004000	0.63966	-0.000000	0.14550	0.600000	0.82982	GCA	.		0.408	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		A	23018970	G	A	23018970	3	1	19	1	0	0	0	0	1	0	0	0	4380	1319	46	3	798	3	DDX53	23	23018970	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	2839115	23018970	132251590	165	2680											
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	49062181	49062181	+	Silent	SNP	G	G	A			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chrX:49062181G>A	ENST00000376265.2	-	47	5659	c.5598C>T	c.(5596-5598)ggC>ggT	p.G1866G	CACNA1F_ENST00000323022.5_Silent_p.G1855G|CACNA1F_ENST00000376251.1_Silent_p.G1801G|AF196779.1_ENST00000583131.1_RNA	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1866					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)	CACTGGATCTGCCGAGGTACC	0.667																																					p.G1866G		.											.	.	.	0			c.C5598T						.						44	34	37					X																	49062181		2202	4298	6500	SO:0001819	synonymous_variant	778	exon47			GGATCTGCCGAGG	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.5598C>T	X.37:g.49062181G>A		30	0		23	14	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																			.		0.667	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		A	49062181	G	A	49062181	2	1	19	1	0	0	0	0	0	0	0	1	2550	1306	46	3		3	CACNA1F	23	49062181	Silent	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	26043211	49062181	106208379	166	2681											
ZCCHC5	203430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	77912769	77912769	+	Silent	SNP	A	A	G			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chrX:77912769A>G	ENST00000321110.1	-	2	1444	c.1149T>C	c.(1147-1149)tcT>tcC	p.S383S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	383							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGATGAGATCAGATAGGTTGG	0.493																																					p.S383S		.											.	.	.	0			c.T1149C						.						109	95	100					X																	77912769		2203	4300	6503	SO:0001819	synonymous_variant	203430	exon2			GAGATCAGATAGG	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1149T>C	X.37:g.77912769A>G		12	0		15	7	NM_152694	B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	CCDS14440.1																																																																																			.		0.493	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		G	77912769	A	G	77912769	2	3	19	1	0	0	0	0	0	0	0	1	17639	175	7	4		4	ZCCHC5	23	77912769	Silent	SNP	A	TCGA-W5-AA30-01A-31D-A417-09	28850588	77912769	77357791	167	2682											
CXorf57	55086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	105876175	105876175	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA30-01A-31D-A417-09	TCGA-W5-AA30-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4b80ae99-7f0c-43af-b383-7d6939cdf3e8	223d9406-0f92-4953-b37e-0fffb0ccbe9a	g.chrX:105876175G>T	ENST00000372548.4	+	5	1211	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	CXorf57_ENST00000372544.2_Missense_Mutation_p.D368Y	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	368							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						AGAACTGGATGATATGCCAGA	0.284																																					p.D368Y		.											.	.	.	0			c.G1102T						.						100	101	101					X																	105876175		2203	4299	6502	SO:0001583	missense	55086	exon5			CTGGATGATATGC	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.1102G>T	X.37:g.105876175G>T	ENSP00000361628:p.Asp368Tyr	113	0		140	13	NM_018015	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280782	0.40294	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.46451	0.87;0.87;0.88	4.53	-0.35	0.12606	.	0.975378	0.08492	N	0.937821	T	0.43831	0.1265	L	0.36672	1.1	0.09310	N	0.99999	B;B;P	0.46142	0.002;0.002;0.873	B;B;P	0.52267	0.014;0.014;0.694	T	0.43814	-0.9368	10	0.72032	D	0.01	-6.0936	9.147	0.36939	0.4378:0.0:0.5622:0.0	.	368;368;368	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	Y	368;368;176	ENSP00000361623:D368Y;ENSP00000361628:D368Y;ENSP00000405866:D176Y	ENSP00000361623:D368Y	D	+	1	0	CXorf57	105762831	0.000000	0.05858	0.888000	0.34837	0.962000	0.63368	-0.071000	0.11505	-0.122000	0.11766	-0.197000	0.12766	GAT	.		0.284	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		T	105876175	G	T	105876175	3	4	19	1	0	0	0	0	1	0	0	0	4122	1290	45	3	1120	3	CXorf57	23	105876175	Missense_Mutation	SNP	G	TCGA-W5-AA30-01A-31D-A417-09	27963406	105876175	49394385	168	2683											
STIL	6491	broad.mit.edu	37	1	47770618	47770618	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:47770618G>A	ENST00000360380.3	-	4	458	c.95C>T	c.(94-96)gCa>gTa	p.A32V	STIL_ENST00000243182.6_Missense_Mutation_p.A32V|STIL_ENST00000371877.3_Missense_Mutation_p.A32V|STIL_ENST00000396221.2_Missense_Mutation_p.A32V|STIL_ENST00000337817.5_Missense_Mutation_p.A32V	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	32					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)				GTTCCAAAGTGCACATTTTGA	0.358																																					p.A32V													.	STIL	91	0			c.C95T						.						109	105	106					1																	47770618		2203	4300	6503	SO:0001583	missense	6491	exon3			CAAAGTGCACATT	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.95C>T	1.37:g.47770618G>A	ENSP00000353544:p.Ala32Val	145	0		163	4	NM_003035	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029352	0.54790	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475;ENST00000413565	T;T;T;T;T;T;T	0.51325	2.09;2.09;2.1;2.09;2.09;0.82;0.71	5.59	3.5	0.40072	.	0.199684	0.52532	N	0.000077	T	0.42585	0.1209	L	0.46157	1.445	0.49582	D	0.999807	P;P;P;P;P	0.48998	0.635;0.918;0.635;0.918;0.918	B;P;B;P;P	0.44732	0.26;0.459;0.26;0.459;0.459	T	0.29366	-1.0014	10	0.34782	T	0.22	-10.8606	11.2024	0.48749	0.1958:0.0:0.8042:0.0	.	32;32;32;32;32	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	V	32;32;32;32;32;32;36	ENSP00000353544:A32V;ENSP00000337367:A32V;ENSP00000360944:A32V;ENSP00000379523:A32V;ENSP00000243182:A32V;ENSP00000411664:A32V;ENSP00000412019:A36V	ENSP00000243182:A32V	A	-	2	0	STIL	47543205	0.998000	0.40836	0.995000	0.50966	0.983000	0.72400	2.859000	0.48364	1.360000	0.45960	0.585000	0.79938	GCA	.		0.358	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		A	47770618	G	A	47770618	3	1	20	1	0	0	0	0	1	0	0	0	15329	1319	46	3	3831	3	STIL	1	47770618	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		47770618	201480003	1	2684											
DNAJC6	9829	hgsc.bcm.edu	37	1	65855273	65855273	+	Silent	SNP	C	C	T	rs139447717		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:65855273C>T	ENST00000395325.3	+	11	1417	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	DNAJC6_ENST00000263441.7_Silent_p.Y407Y|DNAJC6_ENST00000371069.4_Silent_p.Y477Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	420					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCAGGCATTACGGACAAAGTG	0.398																																					p.Y477Y		.											DNAJC6,NS,carcinoma,0,1	DNAJC6	0	0			c.C1431T						.	C		2,4404	4.2+/-10.8	0,2,2201	179	165	169		1260	-5.8	0	1	dbSNP_134	169	0,8600		0,0,4300	no	coding-synonymous	DNAJC6	NM_014787.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		420/914	65855273	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9829	exon11			GCATTACGGACAA	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1260C>T	1.37:g.65855273C>T		37	0		48	2	NM_001256864	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	CCDS30739.1																																																																																			0.000		0.398	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			T	65855273	C	T	65855273	2	4	20	1	0	0	0	0	0	0	0	1	4667	547	19	1		1	DNAJC6	1	65855273	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	18084655	65855273	183395348	2	2685											
ADAM30	11085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	120438659	120438659	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:120438659C>T	ENST00000369400.1	-	1	459	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	101					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)	p.E101K(1)		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)		GGATGATCCTCCAGCAGTTCC	0.507																																					p.E101K		.											ADAM30,hand,carcinoma,0,1	ADAM30	0	1	Substitution - Missense(1)	skin(1)	c.G301A						.						66	63	64					1																	120438659		2203	4300	6503	SO:0001583	missense	11085	exon1			GATCCTCCAGCAG	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.301G>A	1.37:g.120438659C>T	ENSP00000358407:p.Glu101Lys	37	0		44	14	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616706	0.87359	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.06142	3.34	4.76	4.76	0.60689	Peptidase M12B, propeptide (1);	0.000000	0.41001	D	0.000962	T	0.12902	0.0313	M	0.80616	2.505	0.31467	N	0.668825	P	0.46952	0.887	P	0.57548	0.823	T	0.00443	-1.1736	10	0.51188	T	0.08	.	13.147	0.59467	0.0:1.0:0.0:0.0	.	101	Q9UKF2	ADA30_HUMAN	K	101	ENSP00000358407:E101K	ENSP00000358407:E101K	E	-	1	0	ADAM30	120240182	0.892000	0.30473	0.988000	0.46212	0.843000	0.47879	1.859000	0.39418	2.464000	0.83262	0.462000	0.41574	GAG	.		0.507	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		T	120438659	C	T	120438659	3	4	20	1	0	0	0	0	1	0	0	0	248	864	30	3	2075	3	ADAM30	1	120438659	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	54583386	120438659	128811962	3	2686											
APH1A	51107	hgsc.bcm.edu	37	1	150238956	150238956	+	Missense_Mutation	SNP	C	C	A	rs368536742		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:150238956C>A	ENST00000369109.3	-	6	898	c.710G>T	c.(709-711)cGa>cTa	p.R237L	APH1A_ENST00000414276.2_Missense_Mutation_p.R167L|APH1A_ENST00000360244.4_Missense_Mutation_p.R237L|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	237					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|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)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.R237L(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	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)			CTGAATACTTCGGAGGGACCC	0.587																																					p.R237L		.											APH1A,trunk,malignant_melanoma,0,1	APH1A	0	1	Substitution - Missense(1)	skin(1)	c.G710T						.						52	57	55					1																	150238956		2037	4183	6220	SO:0001583	missense	51107	exon6			ATACTTCGGAGGG	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.710G>T	1.37:g.150238956C>A	ENSP00000358105:p.Arg237Leu	32	0		48	3	NM_001077628	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729862	0.69074	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276	T;T;T	0.41758	0.99;0.99;0.99	6.07	4.21	0.49690	.	0.177285	0.38164	N	0.001789	T	0.48390	0.1497	M	0.83953	2.67	0.38697	D	0.9529	B;D;D;P;P;P	0.58620	0.042;0.965;0.983;0.865;0.889;0.941	B;P;P;P;P;P	0.59487	0.069;0.811;0.828;0.641;0.755;0.858	T	0.56013	-0.8049	10	0.59425	D	0.04	-0.109	8.2223	0.31549	0.0:0.7613:0.0:0.2387	.	121;180;167;237;237;237	B4DMX8;B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;.;APH1A_HUMAN	L	237;237;167	ENSP00000358105:R237L;ENSP00000353380:R237L;ENSP00000397473:R167L	ENSP00000353380:R237L	R	-	2	0	APH1A	148505580	0.386000	0.25180	1.000000	0.80357	0.991000	0.79684	0.820000	0.27323	0.908000	0.36671	0.650000	0.86243	CGA	.		0.587	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		A	150238956	C	A	150238956	3	1	20	1	0	0	0	0	1	0	0	0	771	884	31	2	106	2	APH1A	1	150238956	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	29800297	150238956	99011665	4	2687											
ZNF648	127665	hgsc.bcm.edu	37	1	182025729	182025729	+	Missense_Mutation	SNP	C	C	T	rs546993253	byFrequency	TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:182025729C>T	ENST00000339948.3	-	2	1624	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	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)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AAGGGCCTCTCGCCAGTGTGG	0.667													C|||	2	0.000399361	0	0	5008	,	,		19534	0		0	False		,,,				2504	0.002				p.E473K	NSCLC(71;908 1374 5429 20458 35642)	.											ZNF648,right_upper_lobe,carcinoma,0,1	ZNF648	0	0			c.G1417A						.						38	35	36					1																	182025729		2202	4300	6502	SO:0001583	missense	127665	exon2			GCCTCTCGCCAGT	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.1417G>A	1.37:g.182025729C>T	ENSP00000344129:p.Glu473Lys	21	0		14	2	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706565	0.68615	.	.	ENSG00000179930	ENST00000339948	T	0.24350	1.86	2.77	1.85	0.25348	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22898	0.0553	L	0.61218	1.895	0.40962	D	0.984637	P	0.51791	0.948	B	0.41646	0.362	T	0.09640	-1.0665	9	0.87932	D	0	.	4.7543	0.13075	0.0:0.7077:0.0:0.2923	.	473	Q5T619	ZN648_HUMAN	K	473	ENSP00000344129:E473K	ENSP00000344129:E473K	E	-	1	0	ZNF648	180292352	0.977000	0.34250	0.998000	0.56505	0.996000	0.88848	2.386000	0.44380	0.716000	0.32124	0.655000	0.94253	GAG	.		0.667	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		T	182025729	C	T	182025729	3	4	20	1	0	0	0	0	1	0	0	0	18111	893	31	1	293	1	ZNF648	1	182025729	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	31786773	182025729	67224892	5	2688											
TPR	7175	hgsc.bcm.edu	37	1	186304588	186304588	+	Missense_Mutation	SNP	C	C	T	rs369991503		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:186304588C>T	ENST00000367478.4	-	34	5089	c.4793G>A	c.(4792-4794)cGc>cAc	p.R1598H		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1598					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)	p.R1599P(1)|p.R1598P(1)		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)		CGCAGTAATGCGAACATCCAA	0.418			T	NTRK1	papillary thyroid																																p.R1598H		.		Dom	yes		1	1q25	7175	translocated promoter region		E	TPR_ENST00000367478,NS,carcinoma,-1,2	TPR_ENST00000367478	-1	2	Substitution - Missense(2)	breast(2)	c.G4793A						.	C	HIS/ARG	1,3755		0,1,1877	173	154	160		4793	5.1	1	1		160	0,8224		0,0,4112	no	missense	TPR	NM_003292.2	29	0,1,5989	TT,TC,CC		0.0,0.0266,0.0083	probably-damaging	1598/2364	186304588	1,11979	1878	4112	5990	SO:0001583	missense	7175	exon34			GTAATGCGAACAT	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.4793G>A	1.37:g.186304588C>T	ENSP00000356448:p.Arg1598His	43	0		40	2	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219266	0.95139	2.66E-4	0.0	ENSG00000047410	ENST00000367478	T	0.27256	1.68	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59563	-0.7431	10	0.56958	D	0.05	.	18.9661	0.92697	0.0:1.0:0.0:0.0	.	1598	P12270	TPR_HUMAN	H	1598	ENSP00000356448:R1598H	ENSP00000356448:R1598H	R	-	2	0	TPR	184571211	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	7.168000	0.77570	2.545000	0.85829	0.650000	0.86243	CGC	.		0.418	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186304588	C	T	186304588	3	4	20	1	0	0	0	0	1	0	0	0	16464	768	27	1	2370	1	TPR	1	186304588	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	4278859	186304588	62946033	6	2689											
NFASC	23114	hgsc.bcm.edu	37	1	204956669	204956669	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:204956669G>A	ENST00000401399.1	+	21	2792		c.e21+1		NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000495396.1_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000360049.4_Splice_Site			O94856	NFASC_HUMAN	neurofascin						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)			TATGTGGCCTGTACGTTCTGC	0.493																																					.		.											NFASC_ENST00000339876,NS,carcinoma,0,2	NFASC_ENST00000339876	0	0			c.2902+1G>A						.						183	155	165					1																	204956669		2203	4300	6503	SO:0001630	splice_region_variant	23114	exon23			TGGCCTGTACGTT	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.2593+1G>A	1.37:g.204956669G>A		57	0		50	2	NM_015090	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187871	0.21954	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000367173;ENST00000425360	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.735	0.85444	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203223292	1.000000	0.71417	0.981000	0.43875	0.021000	0.10359	4.987000	0.63857	2.731000	0.93534	0.591000	0.81541	.	.		0.493	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Intron	A	204956669	G	A	204956669	5	1	20	1	0	0	0	0	0	0	1	0	10398	1391	48	3	3085	3	NFASC	1	204956669	Splice_Site	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	18652081	204956669	44293952	7	2690											
PCNXL2	80003	hgsc.bcm.edu	37	1	233275579	233275579	+	Silent	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:233275579G>A	ENST00000258229.9	-	20	3774	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	PCNXL2_ENST00000488780.2_Silent_p.F313F|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1180						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)				AGAGTCTTTCGAACCACATTA	0.323																																					p.F1180F		.											.,1	.	204	0			c.C3540T						.						53	50	51					1																	233275579		1836	4077	5913	SO:0001819	synonymous_variant	80003	exon20			TCTTTCGAACCAC	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.3540C>T	1.37:g.233275579G>A		85	0		76	3	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																			.		0.323	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		A	233275579	G	A	233275579	2	1	20	1	0	0	0	0	0	0	0	1	11631	1049	37	1		1	PCNXL2	1	233275579	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	28318910	233275579	15975042	8	2691											
FMN2	56776	broad.mit.edu;bcgsc.ca	37	1	240371322	240371322	+	Silent	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr1:240371322C>T	ENST00000319653.9	+	5	3440	c.3210C>T	c.(3208-3210)ccC>ccT	p.P1070P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1070	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)			CCCCTCTACCCGGAGCGGGCA	0.741																																					p.P1070P													.	FMN2	451	0			c.C3210T						.						2	3	2					1																	240371322		1184	2469	3653	SO:0001819	synonymous_variant	56776	exon5			TCTACCCGGAGCG	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.3210C>T	1.37:g.240371322C>T		54	0		62	10	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.741	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371322	C	T	240371322	2	4	20	1	0	0	0	0	0	0	0	1	5972	639	23	1		1	FMN2	1	240371322	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	7095743	240371322	8879299	9	2692											
CLIP4	79745	hgsc.bcm.edu	37	2	29380187	29380187	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr2:29380187C>A	ENST00000320081.5	+	11	1628	c.1373C>A	c.(1372-1374)cCt>cAt	p.P458H	CLIP4_ENST00000401605.1_Missense_Mutation_p.P458H|CLIP4_ENST00000401617.2_Missense_Mutation_p.P351H|CLIP4_ENST00000404424.1_Missense_Mutation_p.P458H	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	458	Ser-rich.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGCAAAAGCCCTTCCCTTTCA	0.428																																					p.P458H		.											CLIP4,colon,carcinoma,0,1	CLIP4	0	0			c.C1373A						.						167	163	165					2																	29380187		2203	4300	6503	SO:0001583	missense	79745	exon11			AAAGCCCTTCCCT	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.1373C>A	2.37:g.29380187C>A	ENSP00000327009:p.Pro458His	69	0		56	3	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244300	0.39697	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.76709	-1.04;-0.72;-0.65;-0.65	5.8	5.8	0.92144	Cytoskeleton-associated protein, Gly-rich domain (1);	0.465732	0.24917	N	0.034576	T	0.75845	0.3905	L	0.56769	1.78	0.30046	N	0.812153	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.70784	-0.4778	10	0.46703	T	0.11	.	16.9798	0.86324	0.0:1.0:0.0:0.0	.	458;458	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	H	458;351;458;458;458;459;418	ENSP00000384242:P458H;ENSP00000385148:P351H;ENSP00000385594:P458H;ENSP00000327009:P458H	ENSP00000327009:P458H	P	+	2	0	CLIP4	29233691	0.038000	0.19896	0.973000	0.42090	0.112000	0.19704	1.795000	0.38784	2.735000	0.93741	0.655000	0.94253	CCT	.		0.428	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		A	29380187	C	A	29380187	3	1	20	1	0	0	0	0	1	0	0	0	3542	681	24	3	1411	3	CLIP4	2	29380187	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		29380187	213819186	10	2693											
TTC27	55622	broad.mit.edu	37	2	32891802	32891802	+	Silent	SNP	T	T	C			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr2:32891802T>C	ENST00000317907.4	+	7	1137	c.906T>C	c.(904-906)acT>acC	p.T302T		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	302										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGAATTCACTCCAGCACCCA	0.393																																					p.T302T													.	TTC27	71	0			c.T906C						.						115	111	112					2																	32891802		2203	4300	6503	SO:0001819	synonymous_variant	55622	exon7			ATTCACTCCAGCA	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.906T>C	2.37:g.32891802T>C		52	0		64	3	NM_017735	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	CCDS33176.1																																																																																			.		0.393	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		C	32891802	T	C	32891802	2	2	20	1	0	0	0	0	0	0	0	1	16744	1538	54	4		4	TTC27	2	32891802	Silent	SNP	T	TCGA-W5-AA31-01A-11D-A417-09	3511615	32891802	210307571	11	2694											
PNPT1	87178	bcgsc.ca	37	2	55874589	55874589	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr2:55874589C>A	ENST00000447944.2	-	19	1582		c.e19-1			NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTGGAACCCCTATAATTGGG	0.383																																					.													.	PNPT1	68	0			c.1496-1G>T						.						64	65	64					2																	55874589		2203	4300	6503	SO:0001630	splice_region_variant	87178	exon20			GAACCCCTATAAT	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1496-1G>T	2.37:g.55874589C>A		144	0		148	5	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Splice_Site	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980236	0.74474	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.792	0.96463	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNPT1	55728093	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	6.789000	0.75110	2.740000	0.93945	0.557000	0.71058	.	.		0.383	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	Intron	A	55874589	C	A	55874589	5	1	20	1	0	0	0	0	0	0	1	0	12212	695	24	3	896	3	PNPT1	2	55874589	Splice_Site	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	22982787	55874589	187324784	12	2695											
CDCA7	83879	hgsc.bcm.edu;bcgsc.ca	37	2	174231093	174231093	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr2:174231093G>A	ENST00000347703.3	+	7	1025	c.881G>A	c.(880-882)gGc>gAc	p.G294D	CDCA7_ENST00000410101.3_Missense_Mutation_p.G329D|CDCA7_ENST00000410019.3_Missense_Mutation_p.G252D|CDCA7_ENST00000306721.3_Missense_Mutation_p.G373D|CDCA7_ENST00000392567.2_Intron	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	294	Mediates transcriptional activity.				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)			GGCGTTCGAGGCCAGTTCTGT	0.532																																					p.G373D		.											.	.	.	0			c.G1118A						.						118	114	115					2																	174231093		2203	4300	6503	SO:0001583	missense	83879	exon8			TTCGAGGCCAGTT	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.881G>A	2.37:g.174231093G>A	ENSP00000272789:p.Gly294Asp	76	0		56	4	NM_031942	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942010	0.92526	.	.	ENSG00000144354	ENST00000347703;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T	0.55760	0.58;0.5;0.55;0.58	5.67	4.76	0.60689	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	M	0.84156	2.68	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;0.999;1.0;0.998	T	0.78727	-0.2091	10	0.72032	D	0.01	-19.4052	16.7239	0.85416	0.0:0.1286:0.8714:0.0	.	252;329;294;373	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	D	294;373;329;252	ENSP00000272789:G294D;ENSP00000306968:G373D;ENSP00000386656:G329D;ENSP00000386833:G252D	ENSP00000306968:G373D	G	+	2	0	CDCA7	173939339	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.831000	0.99420	2.677000	0.91161	0.655000	0.94253	GGC	.		0.532	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		A	174231093	G	A	174231093	3	1	20	1	0	0	0	0	1	0	0	0	3097	1203	42	3	1148	3	CDCA7	2	174231093	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	118356504	174231093	68968280	13	2696											
CLK1	1195	hgsc.bcm.edu	37	2	201718691	201718691	+	Silent	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr2:201718691G>T	ENST00000321356.4	-	12	1381	c.1246C>A	c.(1246-1248)Cga>Aga	p.R416R	CLK1_ENST00000434813.2_Silent_p.R458R|CLK1_ENST00000409769.2_Silent_p.R239R	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	416	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						CAGTCTAATCGATCGTGGTGA	0.358																																					p.R458R		.											CLK1_ENST00000434813,colon,carcinoma,0,2	CLK1_ENST00000434813	0	0			c.C1372A						.						113	108	110					2																	201718691		2203	4300	6503	SO:0001819	synonymous_variant	1195	exon12			CTAATCGATCGTG	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.1246C>A	2.37:g.201718691G>T		55	0		45	3	NM_001162407	B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	CCDS2331.1																																																																																			.		0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			T	201718691	G	T	201718691	2	4	20	1	0	0	0	0	0	0	0	1	3543	1066	37	2		2	CLK1	2	201718691	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	27487598	201718691	41480682	14	2697											
HDLBP	3069	hgsc.bcm.edu	37	2	242189360	242189360	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr2:242189360G>T	ENST00000391975.1	-	12	1635	c.1408C>A	c.(1408-1410)Cgc>Agc	p.R470S	HDLBP_ENST00000427183.2_Missense_Mutation_p.R437S|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Missense_Mutation_p.R470S|HDLBP_ENST00000310931.4_Missense_Mutation_p.R470S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	470	KH 5. {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)		GGAGGGATGCGCACGGACACC	0.507																																					p.R470S		.											HDLBP,NS,carcinoma,+1,1	HDLBP	+1	0			c.C1408A						.						253	190	212					2																	242189360		2203	4300	6503	SO:0001583	missense	3069	exon12			GGATGCGCACGGA		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.1408C>A	2.37:g.242189360G>T	ENSP00000375836:p.Arg470Ser	41	0		45	2	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.44|16.44	3.123395|3.123395	0.56613|0.56613	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	5.6|5.6	4.68|4.68	0.58851|0.58851	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.048738	.|0.85682	.|D	.|0.000000	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|B;D	.|0.61697	.|0.119;0.99	.|B;D	.|0.65010	.|0.29;0.931	T|T	0.22347|0.22347	-1.0219|-1.0219	5|10	.|0.10111	.|T	.|0.7	-5.4297|-5.4297	16.4634|16.4634	0.84071|0.84071	0.0:0.0:0.8687:0.1313|0.0:0.0:0.8687:0.1313	.|.	.|437;470	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	E|S	278|470;470;470;437	.|ENSP00000375836:R470S;ENSP00000375837:R470S;ENSP00000312042:R470S;ENSP00000399139:R437S	.|ENSP00000312042:R470S	A|R	-|-	2|1	0|0	HDLBP|HDLBP	241838033|241838033	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.781000|7.781000	0.85668|0.85668	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GCG|CGC	.		0.507	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		T	242189360	G	T	242189360	3	4	20	1	0	0	0	0	1	0	0	0	7052	1087	38	2	2466	2	HDLBP	2	242189360	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	40470669	242189360	1010013	15	2698											
RAD54L2	23132	hgsc.bcm.edu	37	3	51696927	51696927	+	Missense_Mutation	SNP	G	G	T	rs535074969		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:51696927G>T	ENST00000409535.2	+	22	4020	c.3895G>T	c.(3895-3897)Gtc>Ttc	p.V1299F	RAD54L2_ENST00000296477.3_Missense_Mutation_p.V993F	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1299						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CATGCCACCCGTCTCCTTAAA	0.602																																					p.V1299F		.											RAD54L2,colon,carcinoma,0,1	RAD54L2	0	0			c.G3895T						.						54	47	49					3																	51696927		2203	4300	6503	SO:0001583	missense	23132	exon22			CCACCCGTCTCCT	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3895G>T	3.37:g.51696927G>T	ENSP00000386520:p.Val1299Phe	34	0		32	2	NM_015106	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.42|15.42	2.828910|2.828910	0.50845|0.50845	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.93763	.|-3.19;-3.28	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.211630	.|0.41605	.|D	.|0.000841	D|D	0.87763|0.87763	0.6259|0.6259	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|P;P	.|0.40066	.|0.701;0.701	.|B;B	.|0.41271	.|0.352;0.265	D|D	0.88118|0.88118	0.2830|0.2830	5|10	.|0.45353	.|T	.|0.12	-18.191|-18.191	13.4518|13.4518	0.61176|0.61176	0.0:0.0:0.8435:0.1565|0.0:0.0:0.8435:0.1565	.|.	.|1299;888	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	L|F	1127|1299;993	.|ENSP00000386520:V1299F;ENSP00000296477:V993F	.|ENSP00000296477:V993F	R|V	+|+	2|1	0|0	RAD54L2|RAD54L2	51671967|51671967	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	1.462000|1.462000	0.35266|0.35266	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	CGT|GTC	.		0.602	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51696927	G	T	51696927	3	4	20	1	0	0	0	0	1	0	0	0	13039	1145	40	2	3977	2	RAD54L2	3	51696927	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		51696927	146325503	16	2699											
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52440916	52440916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:52440916C>T	ENST00000460680.1	-	8	1059	c.588G>A	c.(586-588)tgG>tgA	p.W196*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.W196*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W196*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CGTCCTCCCCCCAGGGCCCTA	0.612			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.W196X	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	BAP1,NS,carcinoma,-2,1	BAP1	-2	1	Substitution - Nonsense(1)	eye(1)	c.G588A						.						42	35	37					3																	52440916		2197	4297	6494	SO:0001587	stop_gained	8314	exon8			CTCCCCCCAGGGC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.588G>A	3.37:g.52440916C>T	ENSP00000417132:p.Trp196*	35	0		24	12	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	39	7.704533	0.98444	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1917	20.1995	0.98256	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000296288:W196X	W	-	3	0	BAP1	52415956	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.783000	0.85696	2.876000	0.98609	0.650000	0.86243	TGG	.		0.612	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			T	52440916	C	T	52440916	4	4	20	1	0	0	0	0	0	1	0	0	1312	624	22	3	1641	3	BAP1	3	52440916	Nonsense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	743989	52440916	145581514	17	2700											
LNP1	348801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	100170610	100170610	+	Silent	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:100170610G>A	ENST00000383693.3	+	3	1484	c.204G>A	c.(202-204)agG>agA	p.R68R	LNP1_ENST00000489752.1_Silent_p.R81R	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	68										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ATCCTAGAAGGCATTCTCATG	0.428																																					p.R68R		.											.	.	.	0			c.G204A						.						95	86	89					3																	100170610		1874	4103	5977	SO:0001819	synonymous_variant	348801	exon3			TAGAAGGCATTCT		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.204G>A	3.37:g.100170610G>A		54	0		39	4	NM_001085451	B7ZLT3	Silent	SNP	ENST00000383693.3	37	CCDS43120.1																																																																																			.		0.428	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			A	100170610	G	A	100170610	2	1	20	1	0	0	0	0	0	0	0	1	8893	1194	42	3		3	LNP1	3	100170610	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	47729694	100170610	97851820	18	2701											
SENP7	57337	hgsc.bcm.edu	37	3	101049208	101049208	+	Silent	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:101049208C>A	ENST00000394095.2	-	20	2774	c.2721G>T	c.(2719-2721)tcG>tcT	p.S907S	SENP7_ENST00000314261.7_Silent_p.S841S|SENP7_ENST00000358203.3_Silent_p.S743S|SENP7_ENST00000394085.3_Silent_p.S95S|SENP7_ENST00000348610.3_Silent_p.S874S|SENP7_ENST00000394094.2_Silent_p.S842S|SENP7_ENST00000394091.1_Silent_p.S743S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	907	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.S841S(1)		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						AAGACAGTGTCGAAGTAGTAC	0.308																																					p.S907S		.											SENP7,rectum,carcinoma,0,1	SENP7	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G2721T						.						102	99	100					3																	101049208		2203	4300	6503	SO:0001819	synonymous_variant	57337	exon20			CAGTGTCGAAGTA		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.2721G>T	3.37:g.101049208C>A		76	0		50	2	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																			.		0.308	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		A	101049208	C	A	101049208	2	1	20	1	0	0	0	0	0	0	0	1	14096	871	31	2		2	SENP7	3	101049208	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	878598	101049208	96973222	19	2702											
SLCO2A1	6578	hgsc.bcm.edu	37	3	133657273	133657273	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:133657273C>T	ENST00000310926.4	-	12	1963	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	SLCO2A1_ENST00000493729.1_Splice_Site_p.A488T	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	564					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)	AGACACTTACCCAGCAAGCGC	0.537																																					p.A564T		.											SLCO2A1,NS,carcinoma,0,1	SLCO2A1	0	0			c.G1690A						.						146	130	136					3																	133657273		2203	4300	6503	SO:0001630	splice_region_variant	6578	exon12			ACTTACCCAGCAA		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.1690+1G>A	3.37:g.133657273C>T		47	0		31	2	NM_005630	Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880458	0.72294	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.49432	0.78;0.78	5.79	5.79	0.91817	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048832	0.85682	D	0.000000	T	0.70762	0.3261	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.936	T	0.70821	-0.4768	9	.	.	.	.	18.2017	0.89840	0.0:1.0:0.0:0.0	.	488;564	E7EU40;Q92959	.;SO2A1_HUMAN	T	564;488	ENSP00000311291:A564T;ENSP00000418893:A488T	.	A	-	1	0	SLCO2A1	135139963	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.176000	0.65026	2.735000	0.93741	0.561000	0.74099	GCC	.		0.537	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	Missense_Mutation	T	133657273	C	T	133657273	5	4	20	1	0	0	0	0	0	0	1	0	14771	637	22	3	253	3	SLCO2A1	3	133657273	Splice_Site	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	32608065	133657273	64365157	20	2703											
RBP2	5948	hgsc.bcm.edu	37	3	139173596	139173596	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:139173596C>A	ENST00000232217.2	-	3	385	c.329G>T	c.(328-330)tGg>tTg	p.W110L	RP11-319G6.1_ENST00000510068.1_RNA|RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	110					epidermis development (GO:0008544)|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)	p.W110*(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCCCTCAATCCACTGCTTCCA	0.532																																					p.W110L		.											RBP2,NS,carcinoma,0,1	RBP2	0	1	Substitution - Nonsense(1)	lung(1)	c.G329T						.						240	204	216					3																	139173596		2203	4300	6503	SO:0001583	missense	5948	exon3			TCAATCCACTGCT	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"Fatty acid binding protein family"	9920	protein-coding gene	gene with protein product		180280	"retinol-binding protein 2, cellular"			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.329G>T	3.37:g.139173596C>A	ENSP00000232217:p.Trp110Leu	37	0		25	2	NM_004164	A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333498	0.81801	.	.	ENSG00000114113	ENST00000232217	T	0.08634	3.07	5.0	5.0	0.66597	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07501	-1.0769	10	0.42905	T	0.14	.	18.6877	0.91571	0.0:1.0:0.0:0.0	.	110	P50120	RET2_HUMAN	L	110	ENSP00000232217:W110L	ENSP00000232217:W110L	W	-	2	0	RBP2	140656286	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	7.689000	0.84165	2.477000	0.83638	0.563000	0.77884	TGG	.		0.532	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		A	139173596	C	A	139173596	3	1	20	1	0	0	0	0	1	0	0	0	13201	595	21	3	83	3	RBP2	3	139173596	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	5516323	139173596	58848834	21	2704											
PRKCI	5584	hgsc.bcm.edu;bcgsc.ca	37	3	169999040	169999040	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:169999040G>T	ENST00000295797.4	+	10	1274	c.969G>T	c.(967-969)caG>caT	p.Q323H		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CTTGCTTTCAGACAGAAAGCA	0.383																																					p.Q323H		.											.	.	.	0			c.G969T						.						114	104	107					3																	169999040		2203	4300	6503	SO:0001583	missense	5584	exon10			CTTTCAGACAGAA		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.969G>T	3.37:g.169999040G>T	ENSP00000295797:p.Gln323His	49	0		68	4	NM_002740	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224964	0.79576	.	.	ENSG00000163558	ENST00000295797	T	0.66280	-0.2	5.77	3.68	0.42216	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	0.70996	0.3288	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67757	-0.5588	9	.	.	.	.	10.3893	0.44158	0.1859:0.0:0.8141:0.0	.	323	P41743	KPCI_HUMAN	H	323	ENSP00000295797:Q323H	.	Q	+	3	2	PRKCI	171481734	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.598000	0.61069	0.653000	0.30826	0.655000	0.94253	CAG	.		0.383	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		T	169999040	G	T	169999040	3	4	20	1	0	0	0	0	1	0	0	0	12556	933	33	3	1007	3	PRKCI	3	169999040	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	30825444	169999040	28023390	22	2705											
DGKG	1608	bcgsc.ca	37	3	186038225	186038225	+	Silent	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr3:186038225G>T	ENST00000265022.3	-	2	563	c.24C>A	c.(22-24)tcC>tcA	p.S8S	DGKG_ENST00000382164.4_Silent_p.S8S|DGKG_ENST00000344484.4_Silent_p.S8S|DGKG_ENST00000544847.1_Silent_p.S8S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	8					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTGGAGTGAGGGAGACCCACC	0.468																																					p.S8S													.	DGKG	98	0			c.C24A						.						141	134	136					3																	186038225		2203	4300	6503	SO:0001819	synonymous_variant	1608	exon2			AGTGAGGGAGACC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.24C>A	3.37:g.186038225G>T		72	0		59	4	NM_001346	B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	CCDS3274.1																																																																																			.		0.468	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			T	186038225	G	T	186038225	2	4	20	1	0	0	0	0	0	0	0	1	4483	1219	43	3		3	DGKG	3	186038225	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	16039185	186038225	11984205	23	2706											
ENAM	10117	hgsc.bcm.edu	37	4	71510219	71510219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr4:71510219G>T	ENST00000396073.3	+	9	3357	c.3076G>T	c.(3076-3078)Gaa>Taa	p.E1026*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1026					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.E1026Q(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TACACCTGATGAAGGCTCCAA	0.433																																					p.E1026X		.											ENAM_ENST00000396073,NS,carcinoma,0,1	ENAM_ENST00000396073	0	1	Substitution - Missense(1)	lung(1)	c.G3076T						.						120	106	110					4																	71510219		2203	4300	6503	SO:0001587	stop_gained	10117	exon9			CCTGATGAAGGCT	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.3076G>T	4.37:g.71510219G>T	ENSP00000379383:p.Glu1026*	41	0		32	2	NM_031889	Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	38	6.681755	0.97759	.	.	ENSG00000132464	ENST00000396073	.	.	.	5.97	1.41	0.22369	.	0.334009	0.26010	N	0.026897	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.535	4.7276	0.12948	0.2261:0.3184:0.4555:0.0	.	.	.	.	X	1026	.	ENSP00000379383:E1026X	E	+	1	0	ENAM	71729083	0.399000	0.25287	0.104000	0.21259	0.247000	0.25773	0.605000	0.24179	0.216000	0.20781	0.655000	0.94253	GAA	.		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71510219	G	T	71510219	4	4	20	1	0	0	0	0	0	1	0	0	5128	1291	45	3	3106	3	ENAM	4	71510219	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		71510219	119644057	24	2707											
SHROOM3	57619	hgsc.bcm.edu	37	4	77700128	77700128	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr4:77700128C>T	ENST00000296043.6	+	11	6742	c.5789C>T	c.(5788-5790)aCg>aTg	p.T1930M	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1930	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)			ATGAAGTCCACGCTCCTCATT	0.542																																					p.T1930M		.											SHROOM3,NS,carcinoma,0,1	SHROOM3	0	0			c.C5789T						.						103	100	101					4																	77700128		2203	4300	6503	SO:0001583	missense	57619	exon11			AGTCCACGCTCCT	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.5789C>T	4.37:g.77700128C>T	ENSP00000296043:p.Thr1930Met	34	0		21	2	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820523	0.71028	.	.	ENSG00000138771	ENST00000296043	T	0.30714	1.52	5.31	4.47	0.54385	Apx/shroom, ASD2 (2);	0.652135	0.15514	N	0.258405	T	0.27489	0.0675	L	0.36672	1.1	0.37705	D	0.924345	D	0.54397	0.966	B	0.41412	0.356	T	0.29366	-1.0014	10	0.87932	D	0	-4.0445	14.0021	0.64439	0.0:0.9277:0.0:0.0723	.	1930	Q8TF72	SHRM3_HUMAN	M	1930	ENSP00000296043:T1930M	ENSP00000296043:T1930M	T	+	2	0	SHROOM3	77919152	0.999000	0.42202	0.349000	0.25694	0.685000	0.39939	5.563000	0.67352	1.482000	0.48325	0.591000	0.81541	ACG	.		0.542	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77700128	C	T	77700128	3	4	20	1	0	0	0	0	1	0	0	0	14340	536	19	1	5831	1	SHROOM3	4	77700128	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	6189909	77700128	113454148	25	2708											
NAF1	92345	bcgsc.ca	37	4	164050118	164050118	+	Silent	SNP	A	A	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr4:164050118A>G	ENST00000274054.2	-	8	1609	c.1416T>C	c.(1414-1416)ccT>ccC	p.P472P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	472	Pro-rich.				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)				gtggagggggagggggtgggg	0.512																																					p.P472P													.	NAF1	69	0			c.T1416C						.																																			SO:0001819	synonymous_variant	92345	exon8			AGGGGGAGGGGGT		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.1416T>C	4.37:g.164050118A>G		69	1		25	12	NM_138386	D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	CCDS3803.1																																																																																			.		0.512	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		G	164050118	A	G	164050118	2	3	20	1	0	0	0	0	0	0	0	1	10178	291	11	4		4	NAF1	4	164050118	Silent	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	86349990	164050118	27104158	26	2709	11	2									
NAF1	92345	bcgsc.ca	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				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)				ggggagggggtgggggtaggg	0.522																																					p.P470P													.	NAF1	69	0			c.A1410C						.						10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345	exon8			AGGGGGTGGGGGT		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.1410A>C	4.37:g.164050124T>G		67	2		28	13	NM_138386	D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	CCDS3803.1																																																																																			.		0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		G	164050124	T	G	164050124	2	3	20	1	0	0	0	0	0	0	0	1	10178	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-W5-AA31-01A-11D-A417-09	6	164050124	27104152	27	2710	11	2									
FAT1	2195	ucsc.edu;bcgsc.ca	37	4	187539158	187539158	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr4:187539158G>A	ENST00000441802.2	-	10	8791	c.8582C>T	c.(8581-8583)gCc>gTc	p.A2861V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2861	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						CATGTTAATGGCAAAGGATTC	0.413										HNSCC(5;0.00058)																											p.A2861V	Colon(197;1040 2055 4143 4984 49344)												.	FAT1	500	0			c.C8582T						.						150	134	139					4																	187539158		1937	4153	6090	SO:0001583	missense	2195	exon10			TTAATGGCAAAGG	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.8582C>T	4.37:g.187539158G>A	ENSP00000406229:p.Ala2861Val	39	0		33	4	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304274	0.60305	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53206	0.63	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.171968	0.51477	D	0.000099	T	0.50103	0.1596	L	0.33710	1.025	0.80722	D	1	P	0.42584	0.784	P	0.50378	0.639	T	0.34179	-0.9839	10	0.27785	T	0.31	.	18.5503	0.91062	0.0:0.0:1.0:0.0	.	2861	Q14517	FAT1_HUMAN	V	2861;2863	ENSP00000406229:A2861V	ENSP00000260147:A2863V	A	-	2	0	FAT1	187776152	1.000000	0.71417	0.996000	0.52242	0.686000	0.39977	7.860000	0.86993	2.682000	0.91365	0.650000	0.86243	GCC	.		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187539158	G	A	187539158	3	1	20	1	0	0	0	0	1	0	0	0	5711	1203	42	3	5256	3	FAT1	4	187539158	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	23489034	187539158	3615118	28	2711											
FAM105A	54491	hgsc.bcm.edu;bcgsc.ca	37	5	14601188	14601188	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:14601188G>T	ENST00000274217.3	+	2	299	c.179G>T	c.(178-180)tGc>tTc	p.C60F		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	60										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GCTGCCATCTGCTACTTCCGG	0.433																																					p.C60F		.											.	.	.	0			c.G179T						.						165	153	157					5																	14601188		2203	4300	6503	SO:0001583	missense	54491	exon2			CCATCTGCTACTT		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.179G>T	5.37:g.14601188G>T	ENSP00000274217:p.Cys60Phe	47	0		47	4	NM_019018	Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033589	0.02029	.	.	ENSG00000145569	ENST00000274217	T	0.16597	2.33	5.5	5.5	0.81552	.	0.189963	0.48767	D	0.000174	T	0.11879	0.0289	L	0.27053	0.805	0.33508	D	0.590777	B	0.22983	0.078	B	0.21151	0.033	T	0.05683	-1.0870	10	0.02654	T	1	-14.0285	16.9211	0.86164	0.0:0.0:1.0:0.0	.	60	Q9NUU6	F105A_HUMAN	F	60	ENSP00000274217:C60F	ENSP00000274217:C60F	C	+	2	0	FAM105A	14654188	1.000000	0.71417	0.905000	0.35620	0.197000	0.23852	4.054000	0.57434	2.735000	0.93741	0.655000	0.94253	TGC	.		0.433	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		T	14601188	G	T	14601188	3	4	20	1	0	0	0	0	1	0	0	0	5406	1319	46	3	185	3	FAM105A	5	14601188	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		14601188	166314072	29	2712											
NIPBL	25836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	36961673	36961673	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:36961673A>C	ENST00000282516.8	+	5	945	c.446A>C	c.(445-447)cAt>cCt	p.H149P	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.H149P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	149					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)			ACTATCTCACATAGCCCCTCC	0.348																																					p.H149P		.											.	.	.	0			c.A446C						.						115	113	114					5																	36961673		2203	4300	6503	SO:0001583	missense	25836	exon5			TCTCACATAGCCC	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.446A>C	5.37:g.36961673A>C	ENSP00000282516:p.His149Pro	43	0		59	14	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	8.666	0.901669	0.17760	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93763	-3.28;-3.28	5.01	5.01	0.66863	.	0.061111	0.64402	D	0.000002	D	0.86293	0.5898	N	0.13043	0.29	0.41152	D	0.986035	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.82047	-0.0651	10	0.27082	T	0.32	.	13.9943	0.64386	1.0:0.0:0.0:0.0	.	149;149	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	P	149	ENSP00000282516:H149P;ENSP00000406266:H149P	ENSP00000282516:H149P	H	+	2	0	NIPBL	36997430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.502000	0.53332	2.008000	0.58898	0.533000	0.62120	CAT	.		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		C	36961673	A	C	36961673	3	2	20	1	0	0	0	0	1	0	0	0	10467	217	8	4	460	4	NIPBL	5	36961673	Missense_Mutation	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	22360485	36961673	143953587	30	2713											
SV2C	22987	hgsc.bcm.edu	37	5	75427856	75427856	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:75427856A>G	ENST00000502798.2	+	2	723	c.281A>G	c.(280-282)cAg>cGg	p.Q94R	SV2C_ENST00000322285.7_Missense_Mutation_p.Q94R	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	94					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.Q94R(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGGGAGTATCAGGGCATCCCC	0.547																																					p.Q94R		.											SV2C,colon,carcinoma,0,1	SV2C	0	1	Substitution - Missense(1)	large_intestine(1)	c.A281G						.						76	81	79					5																	75427856		2123	4259	6382	SO:0001583	missense	22987	exon2			AGTATCAGGGCAT	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.281A>G	5.37:g.75427856A>G	ENSP00000423541:p.Gln94Arg	27	0		28	2	NM_014979	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.665086	0.88251	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.31510	1.49;1.49	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.63014	-0.6731	10	0.87932	D	0	-18.4431	16.075	0.80962	1.0:0.0:0.0:0.0	.	94	Q496J9	SV2C_HUMAN	R	94	ENSP00000423541:Q94R;ENSP00000316983:Q94R	ENSP00000316983:Q94R	Q	+	2	0	SV2C	75463612	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.339000	0.96797	2.195000	0.70347	0.533000	0.62120	CAG	.		0.547	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			G	75427856	A	G	75427856	3	3	20	1	0	0	0	0	1	0	0	0	15466	188	7	4	283	4	SV2C	5	75427856	Missense_Mutation	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	38466183	75427856	105487404	31	2714											
PHF15	23338	ucsc.edu	37	5	133871604	133871604	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:133871604C>T	ENST00000402835.1	+	2	312	c.57C>T	c.(55-57)gaC>gaT	p.D19D	PHF15_ENST00000282605.4_Splice_Site_p.D19D|PHF15_ENST00000361895.2_Splice_Site_p.D19D|PHF15_ENST00000395003.1_Splice_Site_p.D19D|PHF15_ENST00000515554.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACACCACTGACAGTAAGGCCT	0.512																																					p.D19D													.	PHF15	60	0			c.C57T						.						168	124	139					5																	133871604		2203	4300	6503	SO:0001630	splice_region_variant	0	exon2			CACTGACAGTAAG																												ENST00000402835.1:c.58+1C>T	5.37:g.133871604C>T		35	0		39	4	NM_015288		Silent	SNP	ENST00000402835.1	37																																																																																				.		0.512	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1		Silent	T	133871604	C	T	133871604	5	4	20	1	0	0	0	0	0	0	1	0	11865	492	17	3	59	3	PHF15	5	133871604	Splice_Site	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	58443748	133871604	47043656	32	2715											
PCDHA4	56144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140188703	140188703	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:140188703G>A	ENST00000530339.1	+	1	1931	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R644H|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R644H	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)	p.R644H(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)			GACGCTCCGCGCCACCGCCTA	0.682																																					p.R644H		.											PCDHA4_ENST00000530339,NS,carcinoma,0,2	PCDHA4_ENST00000530339	0	2	Substitution - Missense(2)	endometrium(2)	c.G1931A						.						76	78	78					5																	140188703		2203	4300	6503	SO:0001583	missense	56144	exon1			CTCCGCGCCACCG	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.1931G>A	5.37:g.140188703G>A	ENSP00000435300:p.Arg644His	58	1		63	20	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	4.234	0.042396	0.08196	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52754	0.65;0.65;0.65	4.08	2.23	0.28157	Cadherin (4);Cadherin-like (1);	0.194269	0.23758	U	0.044856	T	0.38772	0.1053	L	0.43598	1.365	0.09310	N	1	B;B;B	0.31383	0.321;0.282;0.282	B;B;B	0.37047	0.073;0.082;0.24	T	0.35798	-0.9774	10	0.72032	D	0.01	.	5.2422	0.15477	0.172:0.0:0.6642:0.1638	.	644;644;644	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	644	ENSP00000423470:R644H;ENSP00000349344:R644H;ENSP00000435300:R644H	ENSP00000349344:R644H	R	+	2	0	PCDHA4	140168887	0.000000	0.05858	0.046000	0.18839	0.017000	0.09413	0.275000	0.18698	0.299000	0.22661	-0.516000	0.04426	CGC	.		0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		A	140188703	G	A	140188703	3	1	20	1	0	0	0	0	1	0	0	0	11565	1087	38	1	1933	1	PCDHA4	5	140188703	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	6317099	140188703	40726557	33	2716											
PCDHA9	9752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140230059	140230059	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:140230059C>G	ENST00000532602.1	+	1	3012	c.1979C>G	c.(1978-1980)aCg>aGg	p.T660R	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T660R|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	660	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)			CCAGCGCTGACGGCCACGGCC	0.692																																					p.T660R	Melanoma(55;1800 1972 14909)	.											.	.	.	0			c.C1979G						.						44	47	46					5																	140230059		2197	4268	6465	SO:0001583	missense	9752	exon1			CGCTGACGGCCAC	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.1979C>G	5.37:g.140230059C>G	ENSP00000436042:p.Thr660Arg	50	0		70	21	NM_031857	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318119	0.23994	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53857	0.6;0.6	4.13	2.14	0.27477	Cadherin (4);Cadherin-like (1);	1.901430	0.04248	U	0.338208	T	0.64136	0.2571	L	0.56769	1.78	0.24104	N	0.995865	B;D	0.63046	0.049;0.992	B;P	0.55871	0.088;0.786	T	0.48410	-0.9038	10	0.87932	D	0	.	8.6375	0.33957	0.0:0.7604:0.153:0.0866	.	660;660	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	R	660	ENSP00000436042:T660R;ENSP00000367362:T660R	ENSP00000367362:T660R	T	+	2	0	PCDHA9	140210243	0.002000	0.14202	0.596000	0.28811	0.127000	0.20565	1.476000	0.35420	0.823000	0.34589	0.313000	0.20887	ACG	.		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		G	140230059	C	G	140230059	3	3	20	1	0	0	0	0	1	0	0	0	11570	536	19	5	1981	5	PCDHA9	5	140230059	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	41356	140230059	40685201	34	2717											
ARSI	340075	hgsc.bcm.edu	37	5	149678175	149678175	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:149678175C>A	ENST00000328668.7	-	2	891	c.312G>T	c.(310-312)agG>agT	p.R104S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	104					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)			GGATCTGGTACCTGGTGGGGA	0.612																																					p.R104S		.											.	.	.	0			c.G312T						.						49	54	53					5																	149678175		2180	4274	6454	SO:0001630	splice_region_variant	340075	exon2			CTGGTACCTGGTG	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.312-1G>T	5.37:g.149678175C>A		20	0		34	4	NM_001012301	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456559	0.63401	.	.	ENSG00000183876	ENST00000328668	D	0.97016	-4.21	4.41	2.59	0.31030	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	M	0.91140	3.18	0.80722	D	1	P	0.46859	0.885	P	0.53760	0.734	D	0.96600	0.9444	10	0.72032	D	0.01	.	9.5578	0.39351	0.0:0.8256:0.0:0.1744	.	104	Q5FYB1	ARSI_HUMAN	S	104	ENSP00000333395:R104S	ENSP00000333395:R104S	R	-	3	2	ARSI	149658368	1.000000	0.71417	0.997000	0.53966	0.771000	0.43674	2.079000	0.41577	0.475000	0.27415	0.561000	0.74099	AGG	.		0.612	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301	Missense_Mutation	A	149678175	C	A	149678175	5	1	20	1	0	0	0	0	0	0	1	0	995	521	18	3	1401	3	ARSI	5	149678175	Splice_Site	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	9448116	149678175	31237085	35	2718											
DOCK2	1794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	169509839	169509839	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:169509839G>A	ENST00000256935.8	+	52	5550	c.5470G>A	c.(5470-5472)Gac>Aac	p.D1824N	DOCK2_ENST00000540750.1_Missense_Mutation_p.D885N|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D1316N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1824					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)			ACAGATCCCAGACTCGCTGTC	0.512																																					p.D1824N		.											.	.	.	0			c.G5470A						.						86	82	84					5																	169509839		2203	4300	6503	SO:0001583	missense	1794	exon52			ATCCCAGACTCGC	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.5470G>A	5.37:g.169509839G>A	ENSP00000256935:p.Asp1824Asn	37	0		54	18	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468588	0.43839	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10005	3.62;3.22;2.92	4.54	3.67	0.42095	.	0.267746	0.35124	N	0.003435	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B;B;B	0.27498	0.18;0.007;0.001	B;B;B	0.21546	0.035;0.003;0.002	T	0.33777	-0.9855	10	0.41790	T	0.15	.	8.9209	0.35610	0.102:0.0:0.898:0.0	.	1316;380;1824	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	N	1824;1316;885	ENSP00000256935:D1824N;ENSP00000429283:D1316N;ENSP00000438827:D885N	ENSP00000256935:D1824N	D	+	1	0	DOCK2	169442417	0.764000	0.28473	0.091000	0.20842	0.023000	0.10783	2.599000	0.46231	1.277000	0.44412	0.650000	0.86243	GAC	.		0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169509839	G	A	169509839	3	1	20	1	0	0	0	0	1	0	0	0	4701	942	33	3	5676	3	DOCK2	5	169509839	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	19831664	169509839	11405421	36	2719											
DRD1	1812	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	174869423	174869423	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:174869423C>T	ENST00000393752.2	-	2	1672	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	227					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)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|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 potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCCGCAATGCGCCGTATTTG	0.483																																					p.R227H		.											.	.	.	0			c.G680A						.						120	117	118					5																	174869423		2203	4300	6503	SO:0001583	missense	1812	exon2			GCAATGCGCCGTA	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.680G>A	5.37:g.174869423C>T	ENSP00000377353:p.Arg227His	22	0		33	10	NM_000794	B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585979	0.86748	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.73047	-0.71	5.39	5.39	0.77823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88074	0.2802	10	0.62326	D	0.03	.	18.512	0.90920	0.0:1.0:0.0:0.0	.	227	P21728	DRD1_HUMAN	H	227	ENSP00000377353:R227H	ENSP00000327652:R227H	R	-	2	0	DRD1	174802029	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.669000	0.83911	2.688000	0.91661	0.650000	0.86243	CGC	.		0.483	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		T	174869423	C	T	174869423	3	4	20	1	0	0	0	0	1	0	0	0	4770	768	27	1	664	1	DRD1	5	174869423	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	5359584	174869423	6045837	37	2720											
UNC5A	90249	hgsc.bcm.edu	37	5	176304913	176304913	+	Nonsense_Mutation	SNP	G	G	T	rs149355192		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr5:176304913G>T	ENST00000329542.4	+	11	1928	c.1654G>T	c.(1654-1656)Gag>Tag	p.E552*	UNC5A_ENST00000261961.3_Nonsense_Mutation_p.E512*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	552					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)		p.E552K(1)		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)			GCACCTGGGCGAGGAGGCGCC	0.662																																					p.E552X		.											UNC5A,mouth,carcinoma,0,1	UNC5A	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G1654T						.						21	21	21					5																	176304913		2201	4295	6496	SO:0001587	stop_gained	90249	exon11			CTGGGCGAGGAGG	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.1654G>T	5.37:g.176304913G>T	ENSP00000332737:p.Glu552*	35	0		34	2	NM_133369	B2RXE6|Q8TF26|Q96GP4	Nonsense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	41	8.757006	0.98941	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-34.5453	14.5991	0.68427	0.0722:0.0:0.9278:0.0	.	.	.	.	X	552;512	.	ENSP00000261961:E512X	E	+	1	0	UNC5A	176237519	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.869000	0.99810	2.580000	0.87095	0.555000	0.69702	GAG	.		0.662	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		T	176304913	G	T	176304913	4	4	20	1	0	0	0	0	0	1	0	0	17040	1059	37	2	1696	2	UNC5A	5	176304913	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	1435490	176304913	4610347	38	2721											
HLA-B	3106	hgsc.bcm.edu	37	6	31322910	31322910	+	Missense_Mutation	SNP	G	G	A	rs74189305		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	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		.											HLA-B,NS,carcinoma,-1,4	HLA-B	-1	4	Substitution - Missense(4)	kidney(4)	c.C986T						.						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	53	2		54	3	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	.		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	20	1	0	0	0	0	1	0	0	0	7223	971	34	3	114	3	HLA-B	6	31322910	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		31322910	139792157	39	2722											
BRD2	6046	hgsc.bcm.edu	37	6	32945701	32945701	+	Missense_Mutation	SNP	G	G	T	rs3918142|rs200978040|rs483352931	byFrequency	TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:32945701G>T	ENST00000374825.4	+	9	3198	c.1497G>T	c.(1495-1497)gaG>gaT	p.E499D	BRD2_ENST00000449085.2_Missense_Mutation_p.E452D|BRD2_ENST00000395289.2_Missense_Mutation_p.E499D|BRD2_ENST00000443797.2_Missense_Mutation_p.E379D|BRD2_ENST00000374831.4_Missense_Mutation_p.E499D|BRD2_ENST00000395287.1_Missense_Mutation_p.E499D	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	499	Glu/Ser-rich.|Poly-Glu.				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						aggaagatgaggaggacgagg	0.512																																					p.E499D		.											BRD2_ENST00000395289,uveal_tract,malignant_melanoma,0,1	BRD2_ENST00000395289	0	0			c.G1497T						.						114	95	102					6																	32945701		1510	2708	4218	SO:0001583	missense	6046	exon9			AGATGAGGAGGAC	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.1497G>T	6.37:g.32945701G>T	ENSP00000363958:p.Glu499Asp	36	1		23	4	NM_005104	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.831|9.831	1.188373|1.188373	0.21954|0.21954	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000449025	T;T;T;T;T;T|.	0.08720|.	4.22;4.22;4.22;3.06;4.22;4.22|.	4.75|4.75	-6.4|-6.4	0.01944|0.01944	.|.	0.309061|.	0.23519|.	N|.	0.047310|.	T|T	0.06005|0.06005	0.0156|0.0156	L|L	0.29908|0.29908	0.895|0.895	0.26798|0.26798	N|N	0.969267|0.969267	B;B|.	0.26445|.	0.069;0.149|.	B;B|.	0.20955|.	0.032;0.032|.	T|T	0.21381|0.21381	-1.0247|-1.0247	10|5	0.30078|.	T|.	0.28|.	-7.3676|-7.3676	0.775|0.775	0.01031|0.01031	0.3776:0.1096:0.1989:0.3139|0.3776:0.1096:0.1989:0.3139	.|.	499;499|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	D|M	499;499;499;379;499;452|505	ENSP00000363958:E499D;ENSP00000363964:E499D;ENSP00000378704:E499D;ENSP00000413495:E379D;ENSP00000378702:E499D;ENSP00000409145:E452D|.	ENSP00000363958:E499D|.	E|R	+|+	3|2	2|0	BRD2|BRD2	33053679|33053679	0.784000|0.784000	0.28713|0.28713	0.069000|0.069000	0.20011|0.20011	0.954000|0.954000	0.61252|0.61252	-0.683000|-0.683000	0.05179|0.05179	-1.921000|-1.921000	0.01068|0.01068	-0.834000|-0.834000	0.03071|0.03071	GAG|AGG	.		0.512	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			T	32945701	G	T	32945701	3	4	20	1	0	0	0	0	1	0	0	0	1506	991	35	3	1527	3	BRD2	6	32945701	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	1622791	32945701	138169366	40	2723											
RPS10	6204	hgsc.bcm.edu	37	6	34392484	34392484	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:34392484C>G	ENST00000326199.8	-	3	377	c.284G>C	c.(283-285)cGc>cCc	p.R95P	RPS10_ENST00000344700.3_Missense_Mutation_p.R95P|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.R95P|RPS10_ENST00000494077.1_5'UTR	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	95					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						ACGGCTACGGCGTAGGGTGGC	0.502																																					p.R95P	Colon(121;749 1624 4895 8687 22360)	.											RPS10,colon,carcinoma,0,1	RPS10	0	0			c.G284C						.						27	29	28					6																	34392484		2203	4298	6501	SO:0001583	missense	6204	exon3			CTACGGCGTAGGG	U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"S ribosomal proteins"	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.284G>C	6.37:g.34392484C>G	ENSP00000347271:p.Arg95Pro	58	1		57	3	NM_001203245	B2R4E3|Q5TZC0	Missense_Mutation	SNP	ENST00000326199.8	37	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050654	0.93740	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.77750	-1.1;-1.12	5.19	5.19	0.71726	Plectin/S10, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	L	0.55834	1.745	0.80722	D	1	D	0.55605	0.972	P	0.60068	0.868	D	0.83695	0.0179	10	0.72032	D	0.01	-8.4826	18.7885	0.91964	0.0:1.0:0.0:0.0	.	95	P46783	RS10_HUMAN	P	95	ENSP00000347271:R95P;ENSP00000363169:R95P	ENSP00000347271:R95P	R	-	2	0	RPS10	34500462	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.765000	0.85310	2.446000	0.82766	0.485000	0.47835	CGC	.		0.502	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			G	34392484	C	G	34392484	3	3	20	1	0	0	0	0	1	0	0	0	13665	768	27	5	229	5	RPS10	6	34392484	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	1446783	34392484	136722583	41	2724											
MRAP2	112609	hgsc.bcm.edu	37	6	84772626	84772626	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:84772626G>T	ENST00000257776.4	+	3	277	c.142G>T	c.(142-144)Gga>Tga	p.G48*		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	48					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)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CATTGTGATTGGATTTTGGGT	0.398																																					p.G48X		.											.	.	.	0			c.G142T						.						265	235	245					6																	84772626		2203	4300	6503	SO:0001587	stop_gained	112609	exon3			GTGATTGGATTTT	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.142G>T	6.37:g.84772626G>T	ENSP00000257776:p.Gly48*	56	0		52	4	NM_138409	A8K9M1|Q8IXM9|Q8N2D1	Nonsense_Mutation	SNP	ENST00000257776.4	37	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	G	38	6.658918	0.97743	.	.	ENSG00000135324	ENST00000257776	.	.	.	5.66	5.66	0.87406	.	0.124098	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.554	19.7439	0.96243	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000257776:G48X	G	+	1	0	MRAP2	84829345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.290000	0.78711	2.669000	0.90835	0.655000	0.94253	GGA	.		0.398	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		T	84772626	G	T	84772626	4	4	20	1	0	0	0	0	0	1	0	0	9792	1349	47	3	148	3	MRAP2	6	84772626	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	50380142	84772626	86342441	42	2725											
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	102124680	102124680	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:102124680G>T	ENST00000421544.1	+	4	1213		c.e4+1		GRIK2_ENST00000318991.6_Splice_Site|GRIK2_ENST00000369138.1_Splice_Site|GRIK2_ENST00000369137.3_Splice_Site|GRIK2_ENST00000369134.4_Splice_Site|GRIK2_ENST00000413795.1_Splice_Site|GRIK2_ENST00000358361.3_Splice_Site	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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 cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTAAAACAGGTAACCTTTAA	0.294																																					.		.											.	.	.	0			c.723+1G>T						.						60	62	61					6																	102124680		2203	4300	6503	SO:0001630	splice_region_variant	2898	exon4			AAACAGGTAACCT		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.723+1G>T	6.37:g.102124680G>T		62	0		53	21	NM_175768	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Splice_Site	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807253	0.70797	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIK2	102231373	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.867000	0.99620	2.745000	0.94114	0.650000	0.86243	.	.		0.294	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		Intron	T	102124680	G	T	102124680	5	4	20	1	0	0	0	0	0	0	1	0	6801	1275	44	3	738	3	GRIK2	6	102124680	Splice_Site	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	17352054	102124680	68990387	43	2726											
NR2E1	7101	hgsc.bcm.edu	37	6	108501554	108501554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:108501554G>T	ENST00000368986.4	+	6	1378	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	NR2E1_ENST00000368983.3_Nonsense_Mutation_p.E261*	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	224	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)		TGCTTGGAGAGAACTGTTTGT	0.328																																					p.E224X		.											NR2E1,caecum,carcinoma,0,1	NR2E1	0	0			c.G670T						.						141	132	135					6																	108501554		2203	4300	6503	SO:0001587	stop_gained	7101	exon6			TGGAGAGAACTGT	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.670G>T	6.37:g.108501554G>T	ENSP00000357982:p.Glu224*	53	0		39	2	NM_003269	Q6ZMP8	Nonsense_Mutation	SNP	ENST00000368986.4	37	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	43	10.098514	0.99336	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4136	0.99023	0.0:0.0:1.0:0.0	.	.	.	.	X	224;261	.	ENSP00000357979:E261X	E	+	1	0	NR2E1	108608247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.819000	0.97034	0.655000	0.94253	GAA	.		0.328	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			T	108501554	G	T	108501554	4	4	20	1	0	0	0	0	0	1	0	0	10664	943	33	3	692	3	NR2E1	6	108501554	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	6376874	108501554	62613513	44	2727											
KPNA5	3841	hgsc.bcm.edu	37	6	117045494	117045494	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:117045494A>G	ENST00000368564.1	+	10	1103	c.955A>G	c.(955-957)Agg>Ggg	p.R319G	KPNA5_ENST00000356348.1_Missense_Mutation_p.R319G			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	316	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)		ACCTGCATTAAGGGCAGTTGG	0.274																																					p.R319G		.											KPNA5,caecum,carcinoma,-2,1	KPNA5	-2	0			c.A955G						.						90	90	90					6																	117045494		2203	4295	6498	SO:0001583	missense	3841	exon10			GCATTAAGGGCAG	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.955A>G	6.37:g.117045494A>G	ENSP00000357552:p.Arg319Gly	52	0		48	2	NM_002269	B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591801	0.66219	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.66815	-0.23;-0.23	5.49	4.31	0.51392	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	H	0.97611	4.04	0.45025	D	0.998047	D	0.89917	1.0	D	0.97110	1.0	D	0.89058	0.3460	10	0.87932	D	0	.	12.5675	0.56318	0.8608:0.1392:0.0:0.0	.	316	O15131	IMA5_HUMAN	G	319	ENSP00000357552:R319G;ENSP00000348704:R319G	ENSP00000348704:R319G	R	+	1	2	KPNA5	117152187	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.233000	0.32648	0.893000	0.36288	-0.435000	0.05868	AGG	.		0.274	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		G	117045494	A	G	117045494	3	3	20	1	0	0	0	0	1	0	0	0	8460	63	3	4	993	4	KPNA5	6	117045494	Missense_Mutation	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	8543940	117045494	54069573	45	2728											
GRM1	2911	hgsc.bcm.edu	37	6	146720582	146720582	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:146720582C>T	ENST00000282753.1	+	7	2642	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	GRM1_ENST00000355289.4_Missense_Mutation_p.P803S|GRM1_ENST00000392299.2_Missense_Mutation_p.P803S|GRM1_ENST00000507907.1_Missense_Mutation_p.P803S|GRM1_ENST00000361719.2_Missense_Mutation_p.P803S|GRM1_ENST00000492807.2_Missense_Mutation_p.P803S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	803					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)	p.P803S(2)		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)		AGCTTTTGTGCCCATTTACTT	0.488																																					p.P803S		.											GRM1_ENST00000392299,NS,carcinoma,0,2	GRM1_ENST00000392299	0	2	Substitution - Missense(2)	lung(2)	c.C2407T						.						166	137	147					6																	146720582		2203	4300	6503	SO:0001583	missense	2911	exon8			TTTGTGCCCATTT	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.2407C>T	6.37:g.146720582C>T	ENSP00000282753:p.Pro803Ser	24	0		34	2	NM_000838	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.543993	0.86022	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.68	5.68	0.88126	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.95970	0.8969	10	0.87932	D	0	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	803;803;803	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	S	803	ENSP00000354896:P803S;ENSP00000376119:P803S;ENSP00000424095:P803S;ENSP00000282753:P803S;ENSP00000347437:P803S;ENSP00000425599:P803S	ENSP00000282753:P803S	P	+	1	0	GRM1	146762275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	CCC	.		0.488	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146720582	C	T	146720582	3	4	20	1	0	0	0	0	1	0	0	0	6823	739	26	3	2433	3	GRM1	6	146720582	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	29675088	146720582	24394485	46	2729											
SASH1	23328	hgsc.bcm.edu	37	6	148792601	148792601	+	Missense_Mutation	SNP	G	G	T	rs575597604		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr6:148792601G>T	ENST00000367467.3	+	6	951	c.476G>T	c.(475-477)cGa>cTa	p.R159L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	159					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)		CAGAACTTCCGAAAGAACCAG	0.348																																					p.R159L		.											SASH1,NS,carcinoma,0,2	SASH1	0	0			c.G476T						.						62	60	60					6																	148792601		2203	4300	6503	SO:0001583	missense	23328	exon6			ACTTCCGAAAGAA	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.476G>T	6.37:g.148792601G>T	ENSP00000356437:p.Arg159Leu	124	0		75	3	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830265	0.91036	.	.	ENSG00000111961	ENST00000367467	T	0.13657	2.57	5.92	5.92	0.95590	.	0.174764	0.51477	D	0.000087	T	0.15782	0.0380	L	0.27053	0.805	0.54753	D	0.999988	D	0.89917	1.0	D	0.68192	0.956	T	0.01068	-1.1462	10	0.87932	D	0	-9.4902	13.1725	0.59606	0.0733:0.0:0.9267:0.0	.	159	O94885	SASH1_HUMAN	L	159	ENSP00000356437:R159L	ENSP00000356437:R159L	R	+	2	0	SASH1	148834294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.314000	0.65804	2.809000	0.96659	0.655000	0.94253	CGA	.		0.348	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		T	148792601	G	T	148792601	3	4	20	1	0	0	0	0	1	0	0	0	13893	1058	37	2	498	2	SASH1	6	148792601	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	2072019	148792601	22322466	47	2730											
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	48314511	48314511	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:48314511C>T	ENST00000435803.1	+	17	5272	c.5248C>T	c.(5248-5250)Ctt>Ttt	p.L1750F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1750					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						GTACTATGTGCTTCCTCATGC	0.463																																					p.L1750F		.											.	.	.	0			c.C5248T						.						79	78	79					7																	48314511		2025	4202	6227	SO:0001583	missense	154664	exon17			TATGTGCTTCCTC	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.5248C>T	7.37:g.48314511C>T	ENSP00000411096:p.Leu1750Phe	53	0		54	10	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384663	0.42308	.	.	ENSG00000179869	ENST00000435803	T	0.22539	1.95	5.92	5.02	0.67125	.	0.000000	0.43110	D	0.000618	T	0.41305	0.1153	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.15983	-1.0418	9	.	.	.	.	13.8218	0.63325	0.1529:0.8471:0.0:0.0	.	1750	Q86UQ4	ABCAD_HUMAN	F	1750	ENSP00000411096:L1750F	.	L	+	1	0	ABCA13	48285057	0.687000	0.27671	0.378000	0.26068	0.063000	0.16089	1.042000	0.30303	1.470000	0.48102	0.557000	0.71058	CTT	.		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48314511	C	T	48314511	3	4	20	1	0	0	0	0	1	0	0	0	31	797	28	3	5143	3	ABCA13	7	48314511	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		48314511	110824152	48	2731											
CD36	948	hgsc.bcm.edu	37	7	80302680	80302680	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:80302680G>T	ENST00000435819.1	+	16	1893	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	CD36_ENST00000544133.1_3'UTR|CD36_ENST00000432207.1_Missense_Mutation_p.K403N|CD36_ENST00000433696.2_Missense_Mutation_p.K364N|CD36_ENST00000394788.3_Missense_Mutation_p.K403N|CD36_ENST00000538969.1_Missense_Mutation_p.K343N|CD36_ENST00000534394.1_Missense_Mutation_p.K327N|CD36_ENST00000447544.2_Missense_Mutation_p.K403N|CD36_ENST00000309881.7_Missense_Mutation_p.K403N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	403					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						GAGTATTAAAGAATCTGAAGA	0.249																																					p.K403N		.											CD36_ENST00000447544,NS,carcinoma,0,8	CD36_ENST00000447544	0	0			c.G1209T						.						64	67	66					7																	80302680		2202	4271	6473	SO:0001583	missense	948	exon11			ATTAAAGAATCTG	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.1209G>T	7.37:g.80302680G>T	ENSP00000399421:p.Lys403Asn	77	0		50	2	NM_001127444	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	G	8.228	0.804067	0.16467	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.83	2.86	0.33363	.	0.630622	0.16735	N	0.201646	T	0.61198	0.2328	L	0.51914	1.62	0.09310	N	0.999999	B	0.18013	0.025	B	0.22601	0.04	T	0.45731	-0.9241	9	.	.	.	-14.9671	1.0385	0.01554	0.2507:0.1471:0.4305:0.1717	.	403	P16671	CD36_HUMAN	N	403;403;327;403;403;403;403;343;364	ENSP00000399421:K403N;ENSP00000308165:K403N;ENSP00000431296:K327N;ENSP00000378268:K403N;ENSP00000415743:K403N;ENSP00000411411:K403N;ENSP00000392298:K403N;ENSP00000439543:K343N;ENSP00000401863:K364N	.	K	+	3	2	CD36	80140616	0.191000	0.23288	0.541000	0.28102	0.015000	0.08874	0.555000	0.23422	1.473000	0.48159	0.655000	0.94253	AAG	.		0.249	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		T	80302680	G	T	80302680	3	4	20	1	0	0	0	0	1	0	0	0	3014	933	33	3	1251	3	CD36	7	80302680	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	31988169	80302680	78835983	49	2732											
MGC26647	219557	hgsc.bcm.edu	37	7	88424178	88424178	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:88424178G>T	ENST00000297203.2	-	2	264	c.79C>A	c.(79-81)Cgt>Agt	p.R27S	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.R27S		.											C7orf62,right_upper_lobe,carcinoma,0,2	C7orf62	0	0			c.C79A						.																																			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>A	7.37:g.88424178G>T	ENSP00000297203:p.Arg27Ser	52	0		52	3	NM_152706		Missense_Mutation	SNP	ENST00000297203.2	37	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541996	0.85917	.	.	ENSG00000164645	ENST00000297203	T	0.22134	1.97	6.16	6.16	0.99307	.	0.149795	0.46758	D	0.000264	T	0.48466	0.1501	M	0.73598	2.24	0.38914	D	0.957586	D	0.89917	1.0	D	0.91635	0.999	T	0.45775	-0.9238	10	0.62326	D	0.03	-6.0823	16.3599	0.83257	0.0:0.0:1.0:0.0	.	27	Q8TBZ9	CG062_HUMAN	S	27	ENSP00000297203:R27S	ENSP00000297203:R27S	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	.		0.418	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		T	88424178	G	T	88424178	3	4	20	1	0	0	0	0	1	0	0	0	9588	1145	40	2	686	2	MGC26647	7	88424178	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	8121498	88424178	70714485	50	2733											
CYP3A43	64816	broad.mit.edu	37	7	99445221	99445221	+	Missense_Mutation	SNP	G	G	T	rs373256715		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:99445221G>T	ENST00000354829.2	+	5	532	c.429G>T	c.(427-429)aaG>aaT	p.K143N	CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.K143N|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.K143N	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	143			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)	TAAAATTCAAGGAAGTAAGAA	0.353																																					p.K143N													.	CYP3A43	52	0			c.G429T						.						89	96	93					7																	99445221		2203	4300	6503	SO:0001583	missense	64816	exon5			ATTCAAGGAAGTA	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.429G>T	7.37:g.99445221G>T	ENSP00000346887:p.Lys143Asn	62	1		52	3	NM_057096	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218130	0.39201	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.70164	-0.46;-0.46;-0.46	2.58	2.58	0.30949	.	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.985;0.985	D	0.83654	0.0157	10	0.87932	D	0	.	5.93	0.19134	0.1659:0.0:0.8341:0.0	.	143;143;143	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	N	143	ENSP00000346887:K143N;ENSP00000312110:K143N;ENSP00000222382:K143N	ENSP00000222382:K143N	K	+	3	2	CYP3A43	99283157	0.946000	0.32159	1.000000	0.80357	0.717000	0.41224	-0.048000	0.11944	1.367000	0.46095	0.205000	0.17691	AAG	.		0.353	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			T	99445221	G	T	99445221	3	4	20	1	0	0	0	0	1	0	0	0	4188	991	35	3	447	3	CYP3A43	7	99445221	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	11021043	99445221	59693442	51	2734											
GPR37	2861	hgsc.bcm.edu	37	7	124404434	124404434	+	Silent	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:124404434C>T	ENST00000303921.2	-	1	1247	c.597G>A	c.(595-597)aaG>aaA	p.K199K		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	199					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						CATTGGCCGTCTTGGACAGGG	0.612																																					p.K199K		.											.	.	.	0			c.G597A						.						45	52	50					7																	124404434		2203	4299	6502	SO:0001819	synonymous_variant	2861	exon1			GGCCGTCTTGGAC		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.597G>A	7.37:g.124404434C>T		90	0		79	3	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	CCDS5792.1																																																																																			.		0.612	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		T	124404434	C	T	124404434	2	4	20	1	0	0	0	0	0	0	0	1	6717	912	32	3		3	GPR37	7	124404434	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	24959213	124404434	34734229	52	2735											
WEE2	494551	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	141429375	141429375	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:141429375C>T	ENST00000397541.2	+	11	1986	c.1580C>T	c.(1579-1581)aCc>aTc	p.T527I	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	527					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAGGGATATACCCATCATGGT	0.522																																					p.T527I		.											.	.	.	0			c.C1580T						.						86	85	85					7																	141429375		1861	4120	5981	SO:0001583	missense	494551	exon11			GATATACCCATCA	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1580C>T	7.37:g.141429375C>T	ENSP00000380675:p.Thr527Ile	46	0		54	9	NM_001105558		Missense_Mutation	SNP	ENST00000397541.2	37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	5.332	0.246495	0.10130	.	.	ENSG00000214102	ENST00000397541	T	0.56103	0.48	3.92	-7.84	0.01196	Protein kinase-like domain (1);	1.916520	0.02965	U	0.143625	T	0.37544	0.1007	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26292	-1.0107	10	0.35671	T	0.21	.	9.4911	0.38960	0.0:0.4769:0.3158:0.2073	.	527	P0C1S8	WEE2_HUMAN	I	527	ENSP00000380675:T527I	ENSP00000380675:T527I	T	+	2	0	WEE2	141075844	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-5.078000	0.00153	-3.001000	0.00276	-1.268000	0.01426	ACC	.		0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		T	141429375	C	T	141429375	3	4	20	1	0	0	0	0	1	0	0	0	17394	507	18	3	1622	3	WEE2	7	141429375	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	17024941	141429375	17709288	53	2736											
PRSS1	5644	bcgsc.ca	37	7	142460339	142460339	+	Missense_Mutation	SNP	G	G	A	rs200973660		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:142460339G>A	ENST00000311737.7	+	4	518	c.512G>A	c.(511-513)tGt>tAt	p.C171Y	PRSS1_ENST00000486171.1_Missense_Mutation_p.C185Y	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	171	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)	CAGGCTAAGTGTGAAGCCTCC	0.527																																					p.C171Y													.	PRSS1	68	0			c.G512A						.						293	285	288					7																	142460339		2203	4300	6503	SO:0001583	missense	5644	exon4			CTAAGTGTGAAGC	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.512G>A	7.37:g.142460339G>A	ENSP00000308720:p.Cys171Tyr	92	2		89	13	NM_002769	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153199	0.38021	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.96992	-4.2;-4.2;-2.52	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98703	1.0701	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	185;171	E7EQ64;P07477	.;TRY1_HUMAN	Y	185;171;161;121	ENSP00000417854:C185Y;ENSP00000308720:C171Y;ENSP00000419912:C121Y	ENSP00000308720:C171Y	C	+	2	0	PRSS1	142139913	1.000000	0.71417	0.080000	0.20451	0.020000	0.10135	9.762000	0.98944	1.789000	0.52484	0.398000	0.26397	TGT	.		0.527	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142460339	G	A	142460339	3	1	20	1	0	0	0	0	1	0	0	0	12656	1377	48	3	526	3	PRSS1	7	142460339	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	1030964	142460339	16678324	54	2737											
OR2A12	346525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	143792858	143792858	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr7:143792858A>T	ENST00000408949.2	+	1	718	c.658A>T	c.(658-660)Atc>Ttc	p.I220F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	220						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTACTTGCACATCCTGGTGGC	0.597																																					p.I220F		.											.	.	.	0			c.A658T						.						173	168	170					7																	143792858		2001	4169	6170	SO:0001583	missense	346525	exon1			TTGCACATCCTGG		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.658A>T	7.37:g.143792858A>T	ENSP00000386174:p.Ile220Phe	25	0		41	18	NM_001004135	Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102452	0.37145	.	.	ENSG00000221858	ENST00000408949	T	0.00414	7.52	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01905	0.0060	H	0.96633	3.855	0.36702	D	0.880188	D	0.62365	0.991	D	0.70487	0.969	T	0.06075	-1.0847	9	0.87932	D	0	-29.0979	11.4879	0.50365	1.0:0.0:0.0:0.0	.	220	Q8NGT7	O2A12_HUMAN	F	220	ENSP00000386174:I220F	ENSP00000386174:I220F	I	+	1	0	OR2A12	143423791	1.000000	0.71417	0.392000	0.26245	0.013000	0.08279	6.898000	0.75676	1.817000	0.53016	0.413000	0.27773	ATC	.		0.597	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			T	143792858	A	T	143792858	3	4	20	1	0	0	0	0	1	0	0	0	11014	217	8	5	660	5	OR2A12	7	143792858	Missense_Mutation	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	1332519	143792858	15345805	55	2738											
LONRF1	91694	hgsc.bcm.edu	37	8	12586483	12586483	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr8:12586483C>A	ENST00000398246.3	-	10	2006	c.1937G>T	c.(1936-1938)cGg>cTg	p.R646L	LONRF1_ENST00000525024.1_Missense_Mutation_p.R72L|MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000533751.1_Missense_Mutation_p.R289L	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	646	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AACCCTAAACCGCTTTCCTCC	0.368																																					p.R646L		.											LONRF1,NS,carcinoma,0,1	LONRF1	0	0			c.G1937T						.						162	151	154					8																	12586483		1848	4092	5940	SO:0001583	missense	91694	exon10			CTAAACCGCTTTC	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1937G>T	8.37:g.12586483C>A	ENSP00000381298:p.Arg646Leu	48	0		34	3	NM_152271	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	C	32	5.143881	0.94603	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.04	5.04	0.67666	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91615	0.5306	10	0.87932	D	0	-13.0207	19.2731	0.94018	0.0:1.0:0.0:0.0	.	635;646	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	L	646;72;289;249	ENSP00000381298:R646L;ENSP00000436770:R72L;ENSP00000432130:R289L;ENSP00000433327:R249L	ENSP00000381298:R646L	R	-	2	0	LONRF1	12630854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.055000	0.71103	2.733000	0.93635	0.557000	0.71058	CGG	.		0.368	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		A	12586483	C	A	12586483	3	1	20	1	0	0	0	0	1	0	0	0	8929	652	23	2	396	2	LONRF1	8	12586483	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		12586483	133777539	56	2739											
SCARA5	286133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	27764677	27764677	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr8:27764677G>A	ENST00000354914.3	-	6	1569	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	SCARA5_ENST00000380385.2_Missense_Mutation_p.R137C|SCARA5_ENST00000301906.4_Missense_Mutation_p.R319C|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000524352.1_Missense_Mutation_p.R362C|SCARA5_ENST00000518030.1_Missense_Mutation_p.R319C	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	362	Collagen-like.				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)		TTGAACCCACGCATGCCCATT	0.592																																					p.R362C		.											SCARA5,caecum,carcinoma,0,1	SCARA5	0	0			c.C1084T						.						192	184	187					8																	27764677		2203	4300	6503	SO:0001583	missense	286133	exon6			ACCCACGCATGCC	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.1084C>T	8.37:g.27764677G>A	ENSP00000346990:p.Arg362Cys	36	0		30	7	NM_173833	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169763	0.78452	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D;D	0.93906	-1.78;-3.31;-1.78;-1.78;-1.78	5.86	5.86	0.93980	.	0.235220	0.36555	N	0.002533	D	0.96506	0.8860	M	0.78801	2.425	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;0.996;0.996;0.998	D	0.96466	0.9345	10	0.66056	D	0.02	.	15.6773	0.77338	0.0:0.0:1.0:0.0	.	137;362;319;362	Q6ZMJ2-4;Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;.;SCAR5_HUMAN	C	362;137;162;362;319;319	ENSP00000346990:R362C;ENSP00000369746:R137C;ENSP00000428663:R362C;ENSP00000430713:R319C;ENSP00000301906:R319C	ENSP00000301906:R319C	R	-	1	0	SCARA5	27820596	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	3.562000	0.53777	2.778000	0.95560	0.655000	0.94253	CGT	.		0.592	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		A	27764677	G	A	27764677	3	1	20	1	0	0	0	0	1	0	0	0	13925	1087	38	1	419	1	SCARA5	8	27764677	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	15178194	27764677	118599345	57	2740											
CSPP1	79848	bcgsc.ca	37	8	68028315	68028315	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr8:68028315G>T	ENST00000262210.5	+	11	1470	c.1439G>T	c.(1438-1440)cGc>cTc	p.R480L	CSPP1_ENST00000412460.1_Missense_Mutation_p.R186L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	515	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAAGATTTGCGCAGTGGACTC	0.458																																					p.R480L													.	CSPP1	129	0			c.G1439T						.						150	147	148					8																	68028315		1909	4124	6033	SO:0001583	missense	79848	exon11			ATTTGCGCAGTGG	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1439G>T	8.37:g.68028315G>T	ENSP00000262210:p.Arg480Leu	64	0		57	4	NM_024790	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900866	0.17686	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.29917	1.57;1.55;1.55	5.61	3.04	0.35103	.	0.365634	0.25408	N	0.030895	T	0.14485	0.0350	N	0.08118	0	0.09310	N	0.999997	B;B;B;B	0.17465	0.006;0.022;0.003;0.003	B;B;B;B	0.16289	0.015;0.015;0.015;0.015	T	0.19031	-1.0318	10	0.35671	T	0.21	-0.5009	7.8132	0.29243	0.7871:0.1384:0.0745:0.0	.	186;480;515;515	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	L	480;515;186;186	ENSP00000262210:R480L;ENSP00000415782:R186L;ENSP00000430092:R186L	ENSP00000262210:R480L	R	+	2	0	CSPP1	68190869	0.983000	0.35010	0.190000	0.23270	0.094000	0.18550	1.681000	0.37618	0.386000	0.24997	-0.290000	0.09829	CGC	.		0.458	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		T	68028315	G	T	68028315	3	4	20	1	0	0	0	0	1	0	0	0	3971	1087	38	2	1594	2	CSPP1	8	68028315	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	40263638	68028315	78335707	58	2741											
FAM164A	51101	hgsc.bcm.edu;bcgsc.ca	37	8	79590817	79590817	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr8:79590817G>T	ENST00000263849.4	+	3	215	c.113G>T	c.(112-114)tGc>tTc	p.C38F	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	38							metal ion binding (GO:0046872)										GGACCCATTTGCCAGAAGACT	0.373																																					p.C38F		.											.	.	.	0			c.G113T						.						118	127	124					8																	79590817		2203	4300	6503	SO:0001583	missense	51101	exon3			CCATTTGCCAGAA		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.113G>T	8.37:g.79590817G>T	ENSP00000263849:p.Cys38Phe	93	0		82	4	NM_016010	Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416046	0.83449	.	.	ENSG00000104427	ENST00000263849	D	0.99960	-9.1	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.99967	0.9988	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96489	0.9362	9	.	.	.	-8.9169	19.8459	0.96707	0.0:0.0:1.0:0.0	.	38	Q96GY0	F164A_HUMAN	F	38	ENSP00000263849:C38F	.	C	+	2	0	FAM164A	79753372	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.144000	0.94629	2.788000	0.95919	0.585000	0.79938	TGC	.		0.373	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		T	79590817	G	T	79590817	3	4	20	1	0	0	0	0	1	0	0	0	5497	1319	46	3	123	3	FAM164A	8	79590817	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	11562502	79590817	66773205	59	2742											
TRHR	7201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	110131447	110131447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr8:110131447C>A	ENST00000518632.1	+	3	1311	c.960C>A	c.(958-960)taC>taA	p.Y320*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.Y320*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	320					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CGGTGATTTACAATCTCATGT	0.428																																					p.Y320X		.											.	.	.	0			c.C960A						.						208	205	206					8																	110131447		2203	4299	6502	SO:0001587	stop_gained	7201	exon2			GATTTACAATCTC		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.960C>A	8.37:g.110131447C>A	ENSP00000430711:p.Tyr320*	41	0		51	14	NM_003301	Q2M339	Nonsense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670430	0.88348	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	.	.	.	6.07	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9842	10.2241	0.43214	0.0:0.7292:0.0:0.2708	.	.	.	.	X	320	.	ENSP00000309818:Y320X	Y	+	3	2	TRHR	110200623	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	0.944000	0.29043	0.900000	0.36469	0.585000	0.79938	TAC	.		0.428	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			A	110131447	C	A	110131447	4	1	20	1	0	0	0	0	0	1	0	0	16528	489	17	3	966	3	TRHR	8	110131447	Nonsense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	30540630	110131447	36232575	60	2743											
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	110431382	110431382	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr8:110431382C>A	ENST00000378402.5	+	22	2521	c.2417C>A	c.(2416-2418)aCa>aAa	p.T806K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	806					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)			TACACTGGGACAAATGTTTCT	0.383										HNSCC(38;0.096)																											p.T806K		.											.	.	.	0			c.C2417A						.						123	115	118					8																	110431382		1889	4105	5994	SO:0001583	missense	93035	exon22			CTGGGACAAATGT	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.2417C>A	8.37:g.110431382C>A	ENSP00000367655:p.Thr806Lys	36	0		53	17	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101447	0.06967	.	.	ENSG00000205038	ENST00000378402	D	0.85861	-2.04	5.92	4.98	0.66077	.	0.293029	0.32901	N	0.005510	T	0.77068	0.4076	L	0.35723	1.085	0.20403	N	0.999909	B	0.09022	0.002	B	0.06405	0.002	T	0.62006	-0.6945	10	0.31617	T	0.26	.	10.6119	0.45427	0.2354:0.7646:0.0:0.0	.	806	Q86WI1	PKHL1_HUMAN	K	806	ENSP00000367655:T806K	ENSP00000367655:T806K	T	+	2	0	PKHD1L1	110500558	0.386000	0.25180	0.700000	0.30305	0.109000	0.19521	1.092000	0.30927	2.809000	0.96659	0.655000	0.94253	ACA	.		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110431382	C	A	110431382	3	1	20	1	0	0	0	0	1	0	0	0	12011	478	17	3	2503	3	PKHD1L1	8	110431382	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	299935	110431382	35932640	61	2744											
HAS2	3037	broad.mit.edu	37	8	122626911	122626911	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr8:122626911G>T	ENST00000303924.4	-	4	1634	c.1097C>A	c.(1096-1098)gCa>gAa	p.A366E		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	366					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)			AAACCACATTGCATTGTACAG	0.438																																					p.A366E													.	HAS2	87	0			c.C1097A						.						171	146	155					8																	122626911		2203	4300	6503	SO:0001583	missense	3037	exon4			CACATTGCATTGT	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.1097C>A	8.37:g.122626911G>T	ENSP00000306991:p.Ala366Glu	53	0		40	3	NM_005328	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278066	0.80692	.	.	ENSG00000170961	ENST00000303924	T	0.47177	0.85	6.02	6.02	0.97574	.	0.045698	0.85682	D	0.000000	T	0.68778	0.3038	M	0.83692	2.655	0.80722	D	1	P	0.49862	0.929	P	0.56216	0.794	T	0.66654	-0.5869	10	0.39692	T	0.17	-14.8778	20.5385	0.99246	0.0:0.0:1.0:0.0	.	366	Q92819	HAS2_HUMAN	E	366	ENSP00000306991:A366E	ENSP00000306991:A366E	A	-	2	0	HAS2	122696092	1.000000	0.71417	0.907000	0.35723	0.953000	0.61014	9.846000	0.99502	2.863000	0.98299	0.549000	0.68633	GCA	.		0.438	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		T	122626911	G	T	122626911	3	4	20	1	0	0	0	0	1	0	0	0	6989	1319	46	3	565	3	HAS2	8	122626911	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	12195529	122626911	23737111	62	2745											
ZDHHC21	340481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	14619079	14619079	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr9:14619079G>A	ENST00000380916.4	-	10	1149	c.683C>T	c.(682-684)cCa>cTa	p.P228L		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	228					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		CTGCTGCCATGGCTTTCGGGG	0.493																																					p.P228L		.											.	.	.	0			c.C683T						.						98	95	96					9																	14619079		2203	4300	6503	SO:0001583	missense	340481	exon10			TGCCATGGCTTTC	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"Zinc fingers, DHHC-type"	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.683C>T	9.37:g.14619079G>A	ENSP00000370303:p.Pro228Leu	16	0		18	9	NM_178566	A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	ENST00000380916.4	37	CCDS6475.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.636078	0.47049	.	.	ENSG00000175893	ENST00000380916	T	0.44881	0.91	5.82	5.82	0.92795	.	0.050905	0.85682	D	0.000000	T	0.52677	0.1749	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.55490	-0.8133	10	0.59425	D	0.04	-5.5751	20.0938	0.97831	0.0:0.0:1.0:0.0	.	228	Q8IVQ6	ZDH21_HUMAN	L	228	ENSP00000370303:P228L	ENSP00000370303:P228L	P	-	2	0	ZDHHC21	14609079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.477000	0.81069	2.757000	0.94681	0.585000	0.79938	CCA	.		0.493	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566		A	14619079	G	A	14619079	3	1	20	1	0	0	0	0	1	0	0	0	17660	1348	47	3	110	3	ZDHHC21	9	14619079	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		14619079	126594352	63	2746											
RORB	6096	ucsc.edu;bcgsc.ca	37	9	77300435	77300435	+	Silent	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr9:77300435G>T	ENST00000396204.2	+	10	1314	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L	RORB_ENST00000376896.3_Silent_p.L427L			Q92753	RORB_HUMAN	RAR-related orphan receptor B	438	Ligand-binding. {ECO:0000255}.				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)	GGGAGAAGCTGCAGGTATTTA	0.473																																					p.L427L													.	RORB	89	0			c.G1281T						.						168	154	159					9																	77300435		2203	4300	6503	SO:0001819	synonymous_variant	6096	exon10			GAAGCTGCAGGTA	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.1314G>T	9.37:g.77300435G>T		29	0		39	4	NM_006914	Q8WX73	Silent	SNP	ENST00000396204.2	37																																																																																				.		0.473	RORB-201	KNOWN	basic	protein_coding	protein_coding				T	77300435	G	T	77300435	2	4	20	1	0	0	0	0	0	0	0	1	13574	1306	46	3		3	RORB	9	77300435	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	62681356	77300435	63912996	64	2747											
GRIN1	2902	hgsc.bcm.edu	37	9	140053112	140053112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr9:140053112G>T	ENST00000371561.3	+	8	2250	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*	GRIN1_ENST00000371559.4_Nonsense_Mutation_p.E385*|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.E406*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.E385*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.E385*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.E406*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.E406*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.E406*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.E385*|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	385					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)	GCCAGGCGGAGAGACAGAGAA	0.627																																					p.E406X	NSCLC(113;717 1653 2089 20474 37618)	.											GRIN1,NS,carcinoma,0,1	GRIN1	0	0			c.G1216T						.						85	86	85					9																	140053112		2203	4300	6503	SO:0001587	stop_gained	2902	exon9			GGCGGAGAGACAG		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.1153G>T	9.37:g.140053112G>T	ENSP00000360616:p.Glu385*	74	0		68	3	NM_001185091	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Nonsense_Mutation	SNP	ENST00000371561.3	37	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	36	5.966162	0.97156	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	.	.	.	4.27	4.27	0.50696	.	0.352416	0.28182	U	0.016291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	15.2593	0.73610	0.0:0.0:1.0:0.0	.	.	.	.	X	385;385;385;385;406;406;406;385;406	.	ENSP00000316696:E385X	E	+	1	0	GRIN1	139172933	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.245000	0.95431	1.932000	0.55993	0.561000	0.74099	GAG	.		0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		T	140053112	G	T	140053112	4	4	20	1	0	0	0	0	0	1	0	0	6805	943	33	3	1250	3	GRIN1	9	140053112	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	62752677	140053112	1160319	65	2748											
TPRN	286262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	140093584	140093584	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr9:140093584C>A	ENST00000409012.4	-	1	1666	c.1580G>T	c.(1579-1581)cGg>cTg	p.R527L	TPRN_ENST00000321773.2_Missense_Mutation_p.R466L|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	527					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CTCGGCCTCCCGTGGCCGAGG	0.652																																					p.R527L		.											.	.	.	0			c.G1580T						.						66	65	65					9																	140093584		2203	4299	6502	SO:0001583	missense	286262	exon1			GCCTCCCGTGGCC	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.1580G>T	9.37:g.140093584C>A	ENSP00000387100:p.Arg527Leu	18	0		14	5	NM_001128228	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	C	0.309	-0.968960	0.02232	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.49	-6.97	0.01616	.	2.217700	0.01899	N	0.039054	T	0.23611	0.0571	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16276	-1.0408	9	0.56958	D	0.05	0.3779	3.3229	0.07057	0.2339:0.4591:0.1203:0.1866	.	527	Q4KMQ1	TPRN_HUMAN	L	325;527;466	.	ENSP00000313704:R466L	R	-	2	0	TPRN	139213405	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.528000	0.00945	-3.477000	0.00156	-2.495000	0.00193	CGG	.		0.652	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		A	140093584	C	A	140093584	3	1	20	1	0	0	0	0	1	0	0	0	16469	652	23	2	651	2	TPRN	9	140093584	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	40472	140093584	1119847	66	2749											
TAF3	83860	hgsc.bcm.edu	37	10	8019213	8019213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr10:8019213G>T	ENST00000344293.5	+	4	2448	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	748					maintenance of protein location in nucleus (GO:0051457)|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)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.E748*(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GATAAAAGTGGAACCAGTCGC	0.448																																					p.E748X		.											TAF3,NS,carcinoma,0,1	TAF3	0	1	Substitution - Nonsense(1)	lung(1)	c.G2242T						.						77	78	77					10																	8019213		1854	4109	5963	SO:0001587	stop_gained	83860	exon4			AAAGTGGAACCAG	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2242G>T	10.37:g.8019213G>T	ENSP00000340271:p.Glu748*	65	0		56	3	NM_031923	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	41	8.580851	0.98872	.	.	ENSG00000165632	ENST00000344293	.	.	.	6.05	6.05	0.98169	.	0.167695	0.40064	N	0.001187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-32.8701	20.6087	0.99469	0.0:0.0:1.0:0.0	.	.	.	.	X	748	.	ENSP00000340271:E748X	E	+	1	0	TAF3	8059219	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	5.659000	0.68010	2.866000	0.98385	0.650000	0.86243	GAA	.		0.448	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		T	8019213	G	T	8019213	4	4	20	1	0	0	0	0	0	1	0	0	15572	1175	41	3	2256	3	TAF3	10	8019213	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		8019213	127515534	67	2750											
OGDHL	55753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	50960205	50960205	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr10:50960205G>T	ENST00000374103.4	-	5	653	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	OGDHL_ENST00000419399.1_Missense_Mutation_p.L133M|OGDHL_ENST00000432695.1_De_novo_Start_InFrame	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	190					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						ATCTCCCGCAGAGAGAGGGTG	0.582																																					p.L190M		.											.	.	.	0			c.C568A						.						53	54	54					10																	50960205		2203	4300	6503	SO:0001583	missense	55753	exon5			CCCGCAGAGAGAG	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.568C>A	10.37:g.50960205G>T	ENSP00000363216:p.Leu190Met	43	0		30	7	NM_018245	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414175	0.83449	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.17370	2.28;2.28	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.40932	0.1137	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.20806	-1.0264	10	0.54805	T	0.06	.	10.5926	0.45318	0.1171:0.0:0.8829:0.0	.	133;190	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	M	190;133	ENSP00000363216:L190M;ENSP00000401356:L133M	ENSP00000363216:L190M	L	-	1	2	OGDHL	50630211	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.390000	0.52523	2.615000	0.88500	0.591000	0.81541	CTG	.		0.582	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		T	50960205	G	T	50960205	3	4	20	1	0	0	0	0	1	0	0	0	10879	933	33	3	2540	3	OGDHL	10	50960205	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	42940992	50960205	84574542	68	2751											
SH3PXD2A	9644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	105526913	105526913	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr10:105526913A>T	ENST00000369774.4	-	3	444	c.168T>A	c.(166-168)gaT>gaA	p.D56E	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D56E			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	56	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)		TGGGAAACTTATCCAAAAGCT	0.542																																					p.D56E		.											.	.	.	0			c.T168A						.						91	71	78					10																	105526913		2203	4300	6503	SO:0001583	missense	9644	exon3			AAACTTATCCAAA	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.168T>A	10.37:g.105526913A>T	ENSP00000358789:p.Asp56Glu	48	0		18	4	NM_014631	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.80|16.80	3.224446|3.224446	0.58668|0.58668	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946|ENST00000420222	T;T|.	0.36699|.	1.24;1.24|.	5.38|5.38	4.23|4.23	0.50019|0.50019	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.32346|.	0.0826|.	N|N	0.05608|0.05608	-0.01|-0.01	0.80722|0.80722	D|D	1|1	P|.	0.43701|.	0.815|.	P|.	0.47573|.	0.55|.	T|.	0.07966|.	-1.0745|.	10|.	0.12430|.	T|.	0.62|.	-17.8564|-17.8564	8.2969|8.2969	0.31990|0.31990	0.8991:0.0:0.1009:0.0|0.8991:0.0:0.1009:0.0	.|.	56|.	Q5TCZ1-3|.	.|.	E|K	56|11	ENSP00000358789:D56E;ENSP00000348215:D56E|.	ENSP00000348215:D56E|.	D|X	-|-	3|1	2|0	SH3PXD2A|SH3PXD2A	105516903|105516903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.569000|2.569000	0.45973|0.45973	0.879000|0.879000	0.35944|0.35944	0.459000|0.459000	0.35465|0.35465	GAT|TAA	.		0.542	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		T	105526913	A	T	105526913	3	4	20	1	0	0	0	0	1	0	0	0	14301	446	16	5	3197	5	SH3PXD2A	10	105526913	Missense_Mutation	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	54566708	105526913	30007834	69	2752											
ZDHHC6	64429	hgsc.bcm.edu	37	10	114190585	114190585	+	Nonsense_Mutation	SNP	C	C	A	rs369541274		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr10:114190585C>A	ENST00000369405.3	-	11	1642	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Nonsense_Mutation_p.E403*	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	407					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)		TTCTCCCCCTCTGGGGCTTGA	0.358																																					p.E407X		.											ZDHHC6,NS,carcinoma,0,1	ZDHHC6	0	0			c.G1219T						.						99	96	97					10																	114190585		2203	4300	6503	SO:0001587	stop_gained	64429	exon11			CCCCCTCTGGGGC	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.1219G>T	10.37:g.114190585C>A	ENSP00000358413:p.Glu407*	68	0		47	2	NM_022494	D3DRB6|Q53G45|Q96IV7|Q9H605	Nonsense_Mutation	SNP	ENST00000369405.3	37	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	37	6.114990	0.97296	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	.	.	.	5.8	5.8	0.92144	.	0.243498	0.48286	D	0.000183	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-10.3688	20.418	0.99029	0.0:1.0:0.0:0.0	.	.	.	.	X	407;403	.	ENSP00000358412:E403X	E	-	1	0	ZDHHC6	114180575	1.000000	0.71417	0.967000	0.41034	0.517000	0.34286	5.150000	0.64869	2.902000	0.99343	0.650000	0.86243	GAG	.		0.358	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		A	114190585	C	A	114190585	4	1	20	1	0	0	0	0	0	1	0	0	17667	922	32	3	26	3	ZDHHC6	10	114190585	Nonsense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	8663672	114190585	21344162	70	2753											
PDE3B	5140	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	14666369	14666369	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr11:14666369G>T	ENST00000282096.4	+	1	1101	c.748G>T	c.(748-750)Ggc>Tgc	p.G250C	PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Missense_Mutation_p.G250C	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	250					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GCTGCTCTCCGGCCTGGTGGG	0.672																																					p.G250C		.											.	.	.	0			c.G748T						.						14	17	16					11																	14666369		2194	4286	6480	SO:0001583	missense	5140	exon1			CTCTCCGGCCTGG	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.748G>T	11.37:g.14666369G>T	ENSP00000282096:p.Gly250Cys	35	0		23	6	NM_000922	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	3.872	-0.027646	0.07589	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.59772	0.24;0.24	4.73	3.6	0.41247	.	7739.210000	0.00166	N	0.000000	T	0.35480	0.0933	N	0.01267	-0.92	0.34305	D	0.68479	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.23547	-1.0185	10	0.51188	T	0.08	.	10.6027	0.45375	0.0:0.0:0.3491:0.6509	.	250;250;250	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	C	250	ENSP00000282096:G250C;ENSP00000388644:G250C	ENSP00000282096:G250C	G	+	1	0	PDE3B	14622945	0.999000	0.42202	0.998000	0.56505	0.987000	0.75469	1.874000	0.39568	0.674000	0.31244	-0.474000	0.04947	GGC	.		0.672	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		T	14666369	G	T	14666369	3	4	20	1	0	0	0	0	1	0	0	0	11677	1116	39	2	750	2	PDE3B	11	14666369	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		14666369	120340147	71	2754											
OR5M11	219487	broad.mit.edu	37	11	56309838	56309838	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr11:56309838G>T	ENST00000528616.2	-	1	919	c.896C>A	c.(895-897)gCc>gAc	p.A299D		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	299						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						ATTCTTCAAGGCCTGCTTCAC	0.383																																					p.A299D													.	OR5M11	60	0			c.C896A						.						73	66	68					11																	56309838		1914	4139	6053	SO:0001583	missense	219487	exon1			TTCAAGGCCTGCT	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.896C>A	11.37:g.56309838G>T	ENSP00000432417:p.Ala299Asp	34	0		28	3	NM_001005245	B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	8.776	0.927031	0.18056	.	.	ENSG00000255223	ENST00000528616	T	0.46063	0.88	4.85	3.95	0.45737	.	.	.	.	.	T	0.75686	0.3883	H	0.99211	4.47	0.09310	N	1	D	0.62365	0.991	P	0.61592	0.891	T	0.71866	-0.4463	9	0.87932	D	0	.	11.0357	0.47799	0.0905:0.0:0.9095:0.0	.	299	Q96RB7	OR5MB_HUMAN	D	299	ENSP00000432417:A299D	ENSP00000432417:A299D	A	-	2	0	OR5M11	56066414	0.005000	0.15991	0.071000	0.20095	0.103000	0.19146	1.400000	0.34577	1.318000	0.45170	-0.162000	0.13425	GCC	.		0.383	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		T	56309838	G	T	56309838	3	4	20	1	0	0	0	0	1	0	0	0	11213	1203	42	3	24	3	OR5M11	11	56309838	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	41643469	56309838	78696678	72	2755											
OSBP	5007	hgsc.bcm.edu	37	11	59369134	59369134	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr11:59369134C>G	ENST00000263847.1	-	4	1479	c.1000G>C	c.(1000-1002)Ggc>Cgc	p.G334R		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	334					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCCACATTGCCAGGAGTGTTT	0.542																																					p.G334R		.											OSBP,colon,carcinoma,0,1	OSBP	0	0			c.G1000C						.						142	138	139					11																	59369134		2201	4295	6496	SO:0001583	missense	5007	exon4			CATTGCCAGGAGT	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1000G>C	11.37:g.59369134C>G	ENSP00000263847:p.Gly334Arg	32	0		35	2	NM_002556	Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183520	0.38609	.	.	ENSG00000110048	ENST00000263847	T	0.29142	1.58	5.95	5.95	0.96441	.	0.436377	0.28209	N	0.016195	T	0.24890	0.0604	N	0.08118	0	0.50039	D	0.999842	D	0.54047	0.964	P	0.49752	0.621	T	0.05835	-1.0861	10	0.16420	T	0.52	-22.1319	18.1595	0.89704	0.0:1.0:0.0:0.0	.	334	P22059	OSBP1_HUMAN	R	334	ENSP00000263847:G334R	ENSP00000263847:G334R	G	-	1	0	OSBP	59125710	0.935000	0.31712	0.997000	0.53966	0.881000	0.50899	1.996000	0.40776	2.822000	0.97130	0.655000	0.94253	GGC	.		0.542	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			G	59369134	C	G	59369134	3	3	20	1	0	0	0	0	1	0	0	0	11312	594	21	5	1467	5	OSBP	11	59369134	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	3059296	59369134	75637382	73	2756											
ZP1	22917	hgsc.bcm.edu;bcgsc.ca	37	11	60638604	60638604	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr11:60638604G>T	ENST00000278853.5	+	5	1001	c.1001G>T	c.(1000-1002)gGa>gTa	p.G334V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	334	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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						ACCCACTGTGGAACCACAATG	0.617																																					p.G334V		.											.	.	.	0			c.G1001T						.						74	69	71					11																	60638604		2203	4299	6502	SO:0001583	missense	22917	exon5			ACTGTGGAACCAC	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.1001G>T	11.37:g.60638604G>T	ENSP00000278853:p.Gly334Val	49	0		48	4	NM_207341		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604070	0.46423	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.91843	-2.92	4.95	3.07	0.35406	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.96128	0.8738	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95084	0.8216	10	0.87932	D	0	-8.2212	9.0849	0.36574	0.1723:0.0:0.8277:0.0	.	334	P60852	ZP1_HUMAN	V	334;41	ENSP00000278853:G334V	ENSP00000278853:G334V	G	+	2	0	ZP1	60395180	1.000000	0.71417	0.565000	0.28409	0.299000	0.27559	5.490000	0.66881	0.505000	0.28104	0.313000	0.20887	GGA	.		0.617	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		T	60638604	G	T	60638604	3	4	20	1	0	0	0	0	1	0	0	0	18263	1174	41	3	1019	3	ZP1	11	60638604	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	1269470	60638604	74367912	74	2757											
SPTBN2	6712	broad.mit.edu;bcgsc.ca	37	11	66460137	66460137	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr11:66460137C>T	ENST00000533211.1	-	26	5391	c.5060G>A	c.(5059-5061)cGg>cAg	p.R1687Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1687Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1687Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1687					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						CAGGCGCTCCCGCCGCTCTCC	0.667																																					p.R1687Q													.	SPTBN2	188	0			c.G5060A						.						30	27	28					11																	66460137		2200	4295	6495	SO:0001583	missense	6712	exon25			CGCTCCCGCCGCT	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.5060G>A	11.37:g.66460137C>T	ENSP00000432568:p.Arg1687Gln	22	0		8	4	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403350	0.96051	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.51325	0.71;0.71;0.71	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.41632	1.29	0.53005	D	0.999962	D	0.54397	0.966	P	0.49953	0.627	T	0.45041	-0.9288	10	0.59425	D	0.04	.	10.5997	0.45360	0.0:0.9108:0.0:0.0892	.	1687	O15020	SPTN2_HUMAN	Q	1687	ENSP00000432568:R1687Q;ENSP00000311489:R1687Q;ENSP00000433593:R1687Q	ENSP00000311489:R1687Q	R	-	2	0	SPTBN2	66216713	0.948000	0.32251	0.998000	0.56505	0.993000	0.82548	3.206000	0.51098	2.550000	0.86006	0.462000	0.41574	CGG	.		0.667	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		T	66460137	C	T	66460137	3	4	20	1	0	0	0	0	1	0	0	0	15167	652	23	1	2164	1	SPTBN2	11	66460137	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	5821533	66460137	68546379	75	2758											
MAML2	84441	hgsc.bcm.edu	37	11	95825221	95825221	+	Silent	SNP	C	C	T	rs571656416	byFrequency	TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr11:95825221C>T	ENST00000524717.1	-	2	3258	c.1974G>A	c.(1972-1974)caG>caA	p.Q658Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	658					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)				gctgctgctgctgttgttgct	0.527			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								C|||	4	0.000798722	0.0015	0	5008	,	,		17889	0.002		0	False		,,,				2504	0				p.Q658Q		.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,NS,carcinoma,0,1	MAML2	0	0			c.G1974A						.																																			SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGTTGT	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.1974G>A	11.37:g.95825221C>T		45	0		31	2	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.		0.527	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825221	C	T	95825221	2	4	20	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825221	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	29365084	95825221	39181295	76	2759											
OR6X1	390260	bcgsc.ca	37	11	123624820	123624820	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr11:123624820C>T	ENST00000327930.2	-	1	433	c.407G>A	c.(406-408)aGc>aAc	p.S136N		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, 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)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		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;0.0279)		GCAGAGTTTGCTGGTCATGAT	0.537																																					p.S136N													.	OR6X1	54	0			c.G407A						.						111	112	112					11																	123624820		2202	4299	6501	SO:0001583	missense	390260	exon1			AGTTTGCTGGTCA	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.407G>A	11.37:g.123624820C>T	ENSP00000333724:p.Ser136Asn	28	0		17	3	NM_001005188	B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	C	9.381	1.072983	0.20147	.	.	ENSG00000221931	ENST00000327930	T	0.37411	1.2	4.55	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19005	0.0456	N	0.25201	0.72	0.24301	N	0.995122	B	0.10296	0.003	B	0.08055	0.003	T	0.31861	-0.9928	9	0.10377	T	0.69	-5.8296	5.1928	0.15218	0.1648:0.6521:0.0:0.1831	.	136	Q8NH79	OR6X1_HUMAN	N	136	ENSP00000333724:S136N	ENSP00000333724:S136N	S	-	2	0	OR6X1	123130030	0.000000	0.05858	0.371000	0.25978	0.989000	0.77384	-0.224000	0.09164	0.174000	0.19809	0.650000	0.86243	AGC	.		0.537	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		T	123624820	C	T	123624820	3	4	20	1	0	0	0	0	1	0	0	0	11251	797	28	3	533	3	OR6X1	11	123624820	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	27799599	123624820	11381696	77	2760											
PPP1R1A	5502	broad.mit.edu	37	12	54976556	54976556	+	Silent	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr12:54976556C>T	ENST00000257905.8	-	4	377	c.207G>A	c.(205-207)cgG>cgA	p.R69R	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	69					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TCTTCCGTTGCCGTGGAGACA	0.582																																					p.R69R													PPP1R1A_ENST00000257905,NS,carcinoma,-2,2	PPP1R1A	18	0			c.G207A						.						154	160	158					12																	54976556		2071	4198	6269	SO:0001819	synonymous_variant	5502	exon4			CCGTTGCCGTGGA	U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.207G>A	12.37:g.54976556C>T		66	0		50	3	NM_006741	Q6IB01|Q8TBJ2|Q8WWV2	Silent	SNP	ENST00000257905.8	37	CCDS44912.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297839	0.23650	.	.	ENSG00000135447	ENST00000553113	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	T	0.64427	0.2597	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63296	-0.6669	4	.	.	.	.	13.0892	0.59158	0.0:1.0:0.0:0.0	.	.	.	.	D	40	.	.	G	-	2	0	PPP1R1A	53262823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.147000	0.31602	2.235000	0.73313	0.561000	0.74099	GGC	.		0.582	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406604.1	NM_006741		T	54976556	C	T	54976556	2	4	20	1	0	0	0	0	0	0	0	1	12409	726	26	3		3	PPP1R1A	12	54976556	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		54976556	78875339	78	2761											
AVIL	10677	hgsc.bcm.edu	37	12	58201157	58201157	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr12:58201157C>T	ENST00000257861.3	-	12	1878	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	AVIL_ENST00000537081.1_Missense_Mutation_p.R476H|AVIL_ENST00000550083.1_5'Flank|RP11-571M6.17_ENST00000602802.1_lincRNA|TSFM_ENST00000548851.1_Intron|RNU6-1083P_ENST00000384022.1_RNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	483	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)					CATGAAGTGGCGTGGCTCCGT	0.522																																					p.R483H		.											AVIL,colon,carcinoma,0,1	AVIL	0	0			c.G1448A						.						160	140	146					12																	58201157		2203	4300	6503	SO:0001583	missense	10677	exon12			AAGTGGCGTGGCT	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.1448G>A	12.37:g.58201157C>T	ENSP00000257861:p.Arg483His	38	0		21	3	NM_006576	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460105	0.63401	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.56103	0.48;0.48	4.77	4.77	0.60923	Gelsolin domain (1);	0.052065	0.85682	D	0.000000	T	0.54255	0.1847	M	0.67953	2.075	0.53688	D	0.999977	B;B	0.15719	0.012;0.014	B;B	0.17979	0.02;0.013	T	0.56092	-0.8036	10	0.59425	D	0.04	-12.7304	17.0565	0.86535	0.0:1.0:0.0:0.0	.	476;483	O75366-2;O75366	.;AVIL_HUMAN	H	476;483	ENSP00000443207:R476H;ENSP00000257861:R483H	ENSP00000257861:R483H	R	-	2	0	AVIL	56487424	0.508000	0.26154	1.000000	0.80357	0.980000	0.70556	2.125000	0.42016	2.627000	0.88993	0.561000	0.74099	CGC	.		0.522	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		T	58201157	C	T	58201157	3	4	20	1	0	0	0	0	1	0	0	0	1228	768	27	1	1043	1	AVIL	12	58201157	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	3224601	58201157	75650738	79	2762											
CEP290	80184	hgsc.bcm.edu	37	12	88530507	88530507	+	Nonsense_Mutation	SNP	G	G	T	rs370725951		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr12:88530507G>T	ENST00000552810.1	-	6	697	c.354C>A	c.(352-354)tgC>tgA	p.C118*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.C118*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	118					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						TTTCAAGTTGGCAAATTTCAT	0.338																																					p.C118X		.											.	.	.	0			c.C354A						.						142	132	135					12																	88530507		1828	4091	5919	SO:0001587	stop_gained	80184	exon6			AAGTTGGCAAATT	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.354C>A	12.37:g.88530507G>T	ENSP00000448012:p.Cys118*	83	0		80	4	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161531	0.97338	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139;ENST00000550962;ENST00000552770	.	.	.	5.15	2.29	0.28610	.	0.204064	0.42682	D	0.000665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	2.9094	0.05732	0.148:0.2624:0.4546:0.135	.	.	.	.	X	118;118;118;20;118;60	.	ENSP00000308021:C118X	C	-	3	2	CEP290	87054638	0.996000	0.38824	1.000000	0.80357	0.957000	0.61999	0.215000	0.17562	0.547000	0.28938	-0.225000	0.12378	TGC	.		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		T	88530507	G	T	88530507	4	4	20	1	0	0	0	0	0	1	0	0	3260	1195	42	3	7281	3	CEP290	12	88530507	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	30329350	88530507	45321388	80	2763											
CUX2	23316	hgsc.bcm.edu	37	12	111747906	111747906	+	Silent	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr12:111747906C>A	ENST00000261726.6	+	15	1474	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	440	Pro-rich.				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						AGTCCTACCCCTCCCCTCAGC	0.647																																					p.P440P		.											.	.	.	0			c.C1320A						.						28	31	30					12																	111747906		1972	4153	6125	SO:0001819	synonymous_variant	23316	exon15			CTACCCCTCCCCT	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.1320C>A	12.37:g.111747906C>A		84	0		73	4	NM_015267	A7E2Y4	Silent	SNP	ENST00000261726.6	37	CCDS41837.1																																																																																			.		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111747906	C	A	111747906	2	1	20	1	0	0	0	0	0	0	0	1	4074	668	24	3		3	CUX2	12	111747906	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	23217399	111747906	22103989	81	2764											
PIWIL1	9271	hgsc.bcm.edu;bcgsc.ca	37	12	130832683	130832683	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr12:130832683G>T	ENST00000245255.3	+	7	961	c.689G>T	c.(688-690)cGa>cTa	p.R230L		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	230					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)		CAAATTGGACGAAATTATTAT	0.333																																					p.R230L		.											PIWIL1,NS,carcinoma,0,2	PIWIL1	0	0			c.G689T						.						87	85	86					12																	130832683		2203	4300	6503	SO:0001583	missense	9271	exon7			TTGGACGAAATTA	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.689G>T	12.37:g.130832683G>T	ENSP00000245255:p.Arg230Leu	60	0		81	4	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908485	0.92107	.	.	ENSG00000125207	ENST00000245255;ENST00000540672	T;T	0.19806	2.12;2.12	5.76	4.87	0.63330	Argonaute/Dicer protein, PAZ (1);	0.048455	0.85682	D	0.000000	T	0.54711	0.1875	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66240	-0.5973	10	0.87932	D	0	-13.81	14.0748	0.64882	0.0723:0.0:0.9277:0.0	.	230;230	Q96J94;Q96J94-2	PIWL1_HUMAN;.	L	230;91	ENSP00000245255:R230L;ENSP00000441695:R91L	ENSP00000245255:R230L	R	+	2	0	PIWIL1	129398636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.564000	0.98151	1.425000	0.47237	0.591000	0.81541	CGA	.		0.333	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			T	130832683	G	T	130832683	3	4	20	1	0	0	0	0	1	0	0	0	11996	1058	37	2	711	2	PIWIL1	12	130832683	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	19084777	130832683	3019212	82	2765											
POLE	5426	hgsc.bcm.edu;bcgsc.ca	37	12	133233951	133233951	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr12:133233951G>T	ENST00000320574.5	-	28	3486	c.3443C>A	c.(3442-3444)cCt>cAt	p.P1148H	POLE_ENST00000535270.1_Missense_Mutation_p.P1121H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1148					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)	CAGGGCCGCAGGGATGGTGAT	0.577								DNA polymerases (catalytic subunits)																													p.P1148H		.											.	.	.	0			c.C3443A						.						66	64	65					12																	133233951		2203	4300	6503	SO:0001583	missense	5426	exon28			GCCGCAGGGATGG		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.3443C>A	12.37:g.133233951G>T	ENSP00000322570:p.Pro1148His	33	0		45	4	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867705	0.91587	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69738	-0.5064	10	0.87932	D	0	.	20.6242	0.99512	0.0:0.0:1.0:0.0	.	1121;1148	F5H1D6;Q07864	.;DPOE1_HUMAN	H	1148;1159;1121;928;125;1083	ENSP00000322570:P1148H;ENSP00000406383:P1159H;ENSP00000445753:P1121H;ENSP00000442519:P928H	ENSP00000322570:P1148H	P	-	2	0	POLE	131744024	1.000000	0.71417	0.654000	0.29608	0.834000	0.47266	9.715000	0.98748	2.880000	0.98712	0.650000	0.86243	CCT	.		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133233951	G	T	133233951	3	4	20	1	0	0	0	0	1	0	0	0	12235	1000	35	3	3505	3	POLE	12	133233951	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	2401268	133233951	617944	83	2766											
USPL1	10208	hgsc.bcm.edu	37	13	31205413	31205413	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr13:31205413G>T	ENST00000255304.4	+	4	1012	c.670G>T	c.(670-672)Gct>Tct	p.A224S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	224					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)		ATTTCCCCAGGCTTTATGTGT	0.453																																					p.A224S	Ovarian(60;318 1180 1554 28110 31601)	.											.	.	.	0			c.G670T						.						215	190	199					13																	31205413		2203	4300	6503	SO:0001583	missense	10208	exon4			CCCCAGGCTTTAT	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.670G>T	13.37:g.31205413G>T	ENSP00000255304:p.Ala224Ser	58	0		74	3	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	6.412	0.444225	0.12164	.	.	ENSG00000132952	ENST00000255304	T	0.06068	3.35	6.07	-4.87	0.03123	.	1.079220	0.06995	N	0.822255	T	0.01222	0.0040	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44802	-0.9304	10	0.09084	T	0.74	-5.0569	1.0311	0.01538	0.2613:0.2707:0.2769:0.1912	.	224	Q5W0Q7	USPL1_HUMAN	S	224	ENSP00000255304:A224S	ENSP00000255304:A224S	A	+	1	0	USPL1	30103413	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.781000	0.04648	-0.664000	0.05324	-0.982000	0.02568	GCT	.		0.453	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		T	31205413	G	T	31205413	3	4	20	1	0	0	0	0	1	0	0	0	17141	1203	42	3	680	3	USPL1	13	31205413	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		31205413	83964465	84	2767											
RFC3	5983	broad.mit.edu;bcgsc.ca	37	13	34398073	34398073	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr13:34398073T>A	ENST00000380071.3	+	3	375	c.245T>A	c.(244-246)aTt>aAt	p.I82N	RFC3_ENST00000434425.1_Missense_Mutation_p.I82N	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	82					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|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)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AAAAAAAAAATTGAAATTAGC	0.284																																					p.I82N													.	RFC3	40	0			c.T245A						.						28	31	30					13																	34398073		2196	4285	6481	SO:0001583	missense	5983	exon3			AAAAAATTGAAAT		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.245T>A	13.37:g.34398073T>A	ENSP00000369411:p.Ile82Asn	217	0		212	6	NM_002915	C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462673	0.84425	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.42513	0.97;0.97	5.74	5.74	0.90152	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.046773	0.85682	D	0.000000	T	0.67268	0.2875	M	0.85197	2.74	0.80722	D	1	D;D;D	0.60160	0.987;0.977;0.977	P;D;D	0.65573	0.879;0.936;0.936	T	0.73388	-0.3998	10	0.87932	D	0	-24.8682	15.2146	0.73254	0.0:0.0:0.0:1.0	.	82;82;82	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	N	82	ENSP00000369411:I82N;ENSP00000401001:I82N	ENSP00000369411:I82N	I	+	2	0	RFC3	33296073	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.498000	0.81546	2.195000	0.70347	0.533000	0.62120	ATT	.		0.284	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		A	34398073	T	A	34398073	3	1	20	1	0	0	0	0	1	0	0	0	13291	1493	52	5	255	5	RFC3	13	34398073	Missense_Mutation	SNP	T	TCGA-W5-AA31-01A-11D-A417-09	3192660	34398073	80771805	85	2768											
DIAPH3	81624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	60435664	60435664	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr13:60435664C>A	ENST00000400324.4	-	22	2834	c.2614G>T	c.(2614-2616)Gac>Tac	p.D872Y	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D826Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D861Y|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D802Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D872Y|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D872Y	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	872	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		GATTTTGTGTCCTTTAGCTAA	0.323																																					p.D872Y		.											.	.	.	0			c.G2614T						.						130	119	122					13																	60435664		1823	4084	5907	SO:0001583	missense	81624	exon22			TTGTGTCCTTTAG	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.2614G>T	13.37:g.60435664C>A	ENSP00000383178:p.Asp872Tyr	75	0		89	9	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	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618116	0.87359	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.54071	1.9;1.9;1.9;1.9;1.9;0.59	5.62	5.62	0.85841	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	H	0.94620	3.56	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	D	0.86360	0.1716	10	0.87932	D	0	.	19.6569	0.95845	0.0:1.0:0.0:0.0	.	609;609;872	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Y	872;872;861;826;802;861;802;826;872;609;872	ENSP00000383178:D872Y;ENSP00000383184:D872Y;ENSP00000367141:D861Y;ENSP00000383173:D802Y;ENSP00000383174:D826Y;ENSP00000267215:D872Y	ENSP00000267214:D609Y	D	-	1	0	DIAPH3	59333665	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.652000	0.90054	0.561000	0.74099	GAC	.		0.323	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		A	60435664	C	A	60435664	3	1	20	1	0	0	0	0	1	0	0	0	4534	855	30	3	1015	3	DIAPH3	13	60435664	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	26037591	60435664	54734214	86	2769											
KLHL1	57626	hgsc.bcm.edu	37	13	70456537	70456537	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr13:70456537C>A	ENST00000377844.4	-	5	1864	c.1105G>T	c.(1105-1107)Gtt>Ttt	p.V369F	KLHL1_ENST00000545028.1_Missense_Mutation_p.V176F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	369					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)		TCATCAGGAACATTGACATCA	0.423																																					p.V369F		.											KLHL1,right_lower_lobe,carcinoma,0,1	KLHL1	0	0			c.G1105T						.						150	124	133					13																	70456537		2203	4300	6503	SO:0001583	missense	57626	exon5			CAGGAACATTGAC	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.1105G>T	13.37:g.70456537C>A	ENSP00000367075:p.Val369Phe	34	0		24	2	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589964	0.86851	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.73575	-0.76;-0.76	4.89	4.89	0.63831	BTB/Kelch-associated (2);	0.000000	0.56097	D	0.000028	D	0.91462	0.7305	H	0.97659	4.05	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.83275	0.993;0.996	D	0.94593	0.7789	10	0.87932	D	0	.	18.3932	0.90490	0.0:1.0:0.0:0.0	.	369;369	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	369;176	ENSP00000367075:V369F;ENSP00000439602:V176F	ENSP00000367075:V369F	V	-	1	0	KLHL1	69354538	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.051000	0.71072	2.413000	0.81919	0.591000	0.81541	GTT	.		0.423	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		A	70456537	C	A	70456537	3	1	20	1	0	0	0	0	1	0	0	0	8392	478	17	3	1169	3	KLHL1	13	70456537	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	10020873	70456537	44713341	87	2770											
C14orf101	54916	bcgsc.ca	37	14	57114069	57114069	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr14:57114069C>A	ENST00000261556.6	+	16	2100	c.1978C>A	c.(1978-1980)Cct>Act	p.P660T	RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.P194T|RP11-1085N6.2_ENST00000553800.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	660						integral component of membrane (GO:0016021)											AGATGCAGATCCTGAAGTGCT	0.473																																					p.P660T													.	.	.	0			c.C1978A						.						92	77	82					14																	57114069		2203	4300	6503	SO:0001583	missense	54916	exon16			GCAGATCCTGAAG	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1978C>A	14.37:g.57114069C>A	ENSP00000261556:p.Pro660Thr	51	0		32	3	NM_017799	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	7.511	0.654576	0.14580	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.45668	1.48;0.89	5.43	2.48	0.30137	.	0.179653	0.49916	D	0.000128	T	0.30135	0.0755	L	0.32530	0.975	0.22719	N	0.998814	P	0.36282	0.546	B	0.29267	0.1	T	0.08638	-1.0712	10	0.51188	T	0.08	-1.8146	15.0588	0.71936	0.0:0.599:0.401:0.0	.	660	Q9NX78	CN101_HUMAN	T	660;194	ENSP00000261556:P660T;ENSP00000438742:P194T	ENSP00000261556:P660T	P	+	1	0	C14orf101	56183822	0.992000	0.36948	0.018000	0.16275	0.184000	0.23303	2.033000	0.41136	0.357000	0.24183	0.650000	0.86243	CCT	.		0.473	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		A	57114069	C	A	57114069	3	1	20	1	0	0	0	0	1	0	0	0	1739	855	30	3	2040	3	C14orf101	14	57114069	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		57114069	50235471	88	2771											
OTX2	5015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	57268926	57268926	+	Missense_Mutation	SNP	G	G	A	rs376333965		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr14:57268926G>A	ENST00000555006.1	-	4	805	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.P133S|OTX2_ENST00000339475.5_Missense_Mutation_p.P141S|OTX2_ENST00000554788.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	133			P -> T (in MCOPS5). {ECO:0000269|PubMed:15846561}.		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)					CTAGAGGGGGGAGTGAATTGG	0.537																																					p.P141S		.											.	.	.	0			c.C421T	GRCh37	CM051595	OTX2	M		.						101	89	93					14																	57268926		2203	4300	6503	SO:0001583	missense	5015	exon3			AGGGGGGAGTGAA	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.397C>T	14.37:g.57268926G>A	ENSP00000452336:p.Pro133Ser	31	0		31	12	NM_001270525	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168707	0.57584	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.91843	-2.82;-2.79;-2.79;-2.9;-2.92	5.82	5.82	0.92795	.	0.000000	0.43110	D	0.000605	D	0.95439	0.8519	M	0.69463	2.115	0.80722	D	1	P;D	0.71674	0.696;0.998	B;D	0.68621	0.232;0.959	D	0.94614	0.7807	10	0.46703	T	0.11	.	19.0835	0.93192	0.0:0.0:1.0:0.0	.	141;133	F1T0D1;P32243	.;OTX2_HUMAN	S	141;133;133;141;133	ENSP00000343819:P141S;ENSP00000386185:P133S;ENSP00000452336:P133S;ENSP00000451357:P141S;ENSP00000451272:P133S	ENSP00000343819:P141S	P	-	1	0	OTX2	56338679	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.787000	0.99055	2.767000	0.95098	0.655000	0.94253	CCC	.		0.537	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		A	57268926	G	A	57268926	3	1	20	1	0	0	0	0	1	0	0	0	11360	1174	41	3	476	3	OTX2	14	57268926	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	154857	57268926	50080614	89	2772											
MGA	23269	hgsc.bcm.edu	37	15	42046766	42046766	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr15:42046766G>A	ENST00000570161.1	+	17	7139		c.e17+1		MGA_ENST00000389936.4_Splice_Site|MGA_ENST00000545763.1_Splice_Site|MGA_ENST00000566586.1_Splice_Site|MGA_ENST00000219905.7_Splice_Site			O43451	MGA_HUMAN	MGA, MAX dimerization protein						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)	TCAAACAGCCGTAAGTCTTAT	0.433																																					.		.											MGA,NS,carcinoma,0,1	MGA	0	0			c.6512+1G>A						.						57	61	60					15																	42046766		1931	4127	6058	SO:0001630	splice_region_variant	23269	exon17			ACAGCCGTAAGTC	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.7139+1G>A	15.37:g.42046766G>A		44	0		44	2	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759179	0.69763	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0525	0.93051	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGA	39834058	1.000000	0.71417	0.977000	0.42913	0.721000	0.41392	6.778000	0.75043	2.503000	0.84419	0.484000	0.47621	.	.		0.433	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	Intron	A	42046766	G	A	42046766	5	1	20	1	0	0	0	0	0	0	1	0	9578	1159	40	1	7206	1	MGA	15	42046766	Splice_Site	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		42046766	60484626	90	2773											
STRC	161497	hgsc.bcm.edu	37	15	43893654	43893654	+	Silent	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr15:43893654G>T	ENST00000450892.2	-	24	4718	c.4641C>A	c.(4639-4641)atC>atA	p.I1547I	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.I774I	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1547					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)		AGTCCACTAGGATCAGCTCCT	0.572																																					p.I1547I		.											STRC_ENST00000450892,NS,carcinoma,0,1	STRC_ENST00000450892	0	0			c.C4641A						.						100	91	94					15																	43893654		2200	4297	6497	SO:0001819	synonymous_variant	161497	exon24			CACTAGGATCAGC	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.4641C>A	15.37:g.43893654G>T		67	0		60	3	NM_153700		Silent	SNP	ENST00000450892.2	37	CCDS10098.1																																																																																			.		0.572	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		T	43893654	G	T	43893654	2	4	20	1	0	0	0	0	0	0	0	1	15375	1164	41	3		3	STRC	15	43893654	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	1846888	43893654	58637738	91	2774											
COPS2	9318	hgsc.bcm.edu	37	15	49420221	49420221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr15:49420221G>A	ENST00000388901.5	-	13	1331	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	COPS2_ENST00000542928.1_Nonsense_Mutation_p.R356*|COPS2_ENST00000299259.6_Nonsense_Mutation_p.R427*	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	420					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.R420*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCAGTATATCGTGCACCACCC	0.413																																					p.R427X	NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	.											COPS2,NS,carcinoma,0,1	COPS2	0	1	Substitution - Nonsense(1)	kidney(1)	c.C1279T						.						176	164	168					15																	49420221		2196	4295	6491	SO:0001587	stop_gained	9318	exon13			TATATCGTGCACC	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.1258C>T	15.37:g.49420221G>A	ENSP00000373553:p.Arg420*	37	0		40	2	NM_001143887	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Nonsense_Mutation	SNP	ENST00000388901.5	37	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527367	0.96431	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.86	5.86	0.93980	.	0.118289	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	11.9432	20.2019	0.98263	0.0:0.0:1.0:0.0	.	.	.	.	X	427;420;356	.	ENSP00000299259:R427X	R	-	1	2	COPS2	47207513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.970000	0.88000	2.776000	0.95493	0.655000	0.94253	CGA	.		0.413	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		A	49420221	G	A	49420221	4	1	20	1	0	0	0	0	0	1	0	0	3740	1153	40	1	77	1	COPS2	15	49420221	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	5526567	49420221	53111171	92	2775											
USP8	9101	ucsc.edu	37	15	50785016	50785016	+	Missense_Mutation	SNP	A	A	G	rs148783236	byFrequency	TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr15:50785016A>G	ENST00000396444.3	+	15	2691	c.2353A>G	c.(2353-2355)Act>Gct	p.T785A	USP8_ENST00000307179.4_Missense_Mutation_p.T785A|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.T679A|USP8_ENST00000433963.1_Missense_Mutation_p.T785A	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	785	USP.				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.T785A(2)		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)		CTTAGGAAATACTTGTTATAT	0.398																																					p.T785A													USP8,NS,carcinoma,0,3	USP8	90	2	Substitution - Missense(2)	prostate(2)	c.A2353G						.						118	105	110					15																	50785016		2196	4294	6490	SO:0001583	missense	9101	exon15			GGAAATACTTGTT	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.2353A>G	15.37:g.50785016A>G	ENSP00000379721:p.Thr785Ala	25	1		37	9	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653902	0.88056	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.964;0.992	T	0.83303	-0.0027	10	0.87932	D	0	-18.2981	15.3993	0.74827	1.0:0.0:0.0:0.0	.	679;785	B4DKA8;P40818	.;UBP8_HUMAN	A	785;785;785;679;10;10	ENSP00000379721:T785A;ENSP00000405537:T785A;ENSP00000302239:T785A;ENSP00000412682:T679A	ENSP00000302239:T785A	T	+	1	0	USP8	48572308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.648000	0.91062	2.096000	0.63516	0.528000	0.53228	ACT	G|1.000;|0.000		0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		G	50785016	A	G	50785016	3	3	20	1	0	0	0	0	1	0	0	0	17138	391	14	4	2407	4	USP8	15	50785016	Missense_Mutation	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	1364795	50785016	51746376	93	2776											
USP8	9101	ucsc.edu	37	15	50785054	50785054	+	Silent	SNP	C	C	T	rs199814360		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr15:50785054C>T	ENST00000396444.3	+	15	2729	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	USP8_ENST00000307179.4_Silent_p.N797N|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.N691N|USP8_ENST00000433963.1_Silent_p.N797N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	797	USP.				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)		GCCTATGTAACGCTCCACATT	0.363																																					p.N797N													.	USP8	90	0			c.C2391T						.						105	96	99					15																	50785054		2196	4293	6489	SO:0001819	synonymous_variant	9101	exon15			ATGTAACGCTCCA	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.2391C>T	15.37:g.50785054C>T		24	0		34	8	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																			.		0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		T	50785054	C	T	50785054	2	4	20	1	0	0	0	0	0	0	0	1	17138	535	19	1		1	USP8	15	50785054	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	38	50785054	51746338	94	2777											
CLK3	1198	hgsc.bcm.edu	37	15	74922183	74922183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr15:74922183G>T	ENST00000395066.3	+	13	2337	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Nonsense_Mutation_p.E478*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.E455*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	626					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						CCTGACCCCTGAGGAGCGGTC	0.632																																					p.E626X	Ovarian(133;694 1754 28950 29027 31859)	.											CLK3_ENST00000454830,NS,carcinoma,0,2	CLK3_ENST00000454830	0	0			c.G1876T						.						26	22	24					15																	74922183		2195	4296	6491	SO:0001587	stop_gained	1198	exon13			ACCCCTGAGGAGC	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.1876G>T	15.37:g.74922183G>T	ENSP00000378505:p.Glu626*	26	0		24	2	NM_001130028	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Nonsense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790183	0.90367	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.3608	0.90374	0.0:0.0:1.0:0.0	.	.	.	.	X	478;478;626;455	.	ENSP00000344112:E478X	E	+	1	0	CLK3	72709236	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.067000	0.57527	2.452000	0.82932	0.555000	0.69702	GAG	.		0.632	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			T	74922183	G	T	74922183	4	4	20	1	0	0	0	0	0	1	0	0	3545	1291	45	3	1926	3	CLK3	15	74922183	Nonsense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	24137129	74922183	27609209	95	2778											
ANPEP	290	hgsc.bcm.edu	37	15	90335685	90335685	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr15:90335685G>T	ENST00000300060.6	-	17	2671	c.2358C>A	c.(2356-2358)aaC>aaA	p.N786K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	786	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	ACACTCACGGGTTATTATTGG	0.587																																					p.N786K	NSCLC(30;827 977 2459 19669 26125)	.											.	.	.	0			c.C2358A						.						139	124	129					15																	90335685		2200	4299	6499	SO:0001583	missense	290	exon17			TCACGGGTTATTA	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2358C>A	15.37:g.90335685G>T	ENSP00000300060:p.Asn786Lys	65	0		47	4	NM_001150	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275096	0.59649	.	.	ENSG00000166825	ENST00000300060	T	0.05513	3.43	5.3	1.79	0.24919	.	0.212605	0.47093	D	0.000256	T	0.16896	0.0406	M	0.83483	2.645	0.46542	D	0.999099	D	0.61080	0.989	P	0.61940	0.896	T	0.24905	-1.0147	10	0.14656	T	0.56	.	6.7091	0.23266	0.1845:0.0:0.6659:0.1495	.	786	P15144	AMPN_HUMAN	K	786	ENSP00000300060:N786K	ENSP00000300060:N786K	N	-	3	2	ANPEP	88136689	1.000000	0.71417	0.977000	0.42913	0.622000	0.37654	3.295000	0.51794	0.572000	0.29383	0.555000	0.69702	AAC	.		0.587	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			T	90335685	G	T	90335685	3	4	20	1	0	0	0	0	1	0	0	0	710	1252	44	3	565	3	ANPEP	15	90335685	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	15413502	90335685	12195707	96	2779											
TSC2	7249	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	2126499	2126499	+	Missense_Mutation	SNP	G	G	T	rs397515046		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr16:2126499G>T	ENST00000219476.3	+	25	3380	c.2750G>T	c.(2749-2751)cGg>cTg	p.R917L	TSC2_ENST00000401874.2_Missense_Mutation_p.R917L|TSC2_ENST00000568454.1_Missense_Mutation_p.R928L|TSC2_ENST00000350773.4_Missense_Mutation_p.R917L|TSC2_ENST00000382538.6_Missense_Mutation_p.R868L|TSC2_ENST00000439673.2_Missense_Mutation_p.R880L|TSC2_ENST00000353929.4_Missense_Mutation_p.R917L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	917					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)				CAGGGCCTGCGGTCCAATGTC	0.642			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.R917L		.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	.	.	0			c.G2750T						.						109	101	104					16																	2126499		2198	4300	6498	SO:0001583	missense	7249	exon25	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	GCCTGCGGTCCAA	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.2750G>T	16.37:g.2126499G>T	ENSP00000219476:p.Arg917Leu	28	0		22	4	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594575	0.86953	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89196	-2.45;-2.37;-2.37;-2.48;-2.43;-2.45	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.996;0.998;0.998;0.996;0.995	D;D;D;D;D;D	0.81914	0.981;0.97;0.978;0.995;0.961;0.968	D	0.89068	0.3467	10	0.15499	T	0.54	-27.8281	18.0005	0.89196	0.0:0.0:1.0:0.0	.	868;880;917;917;917;917	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	L	917;917;917;880;868;917	ENSP00000219476:R917L;ENSP00000384468:R917L;ENSP00000248099:R917L;ENSP00000399232:R880L;ENSP00000371978:R868L;ENSP00000344383:R917L	ENSP00000219476:R917L	R	+	2	0	TSC2	2066500	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.147000	0.94646	2.319000	0.78375	0.561000	0.74099	CGG	.		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2126499	G	T	2126499	3	4	20	1	0	0	0	0	1	0	0	0	16654	1116	39	2	2844	2	TSC2	16	2126499	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		2126499	88228254	97	2780											
DNAH3	55567	hgsc.bcm.edu	37	16	21080893	21080893	+	Missense_Mutation	SNP	C	C	A	rs577456196		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr16:21080893C>A	ENST00000261383.3	-	23	3223	c.3224G>T	c.(3223-3225)cGc>cTc	p.R1075L	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1075	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.R1075P(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)		GTCTTGTATGCGAATTAGCTT	0.453																																					p.R1075L		.											DNAH3_ENST00000261383,NS,carcinoma,-1,2	DNAH3_ENST00000261383	-1	2	Substitution - Missense(2)	lung(2)	c.G3224T						.						173	130	144					16																	21080893		2201	4300	6501	SO:0001583	missense	55567	exon23			TGTATGCGAATTA	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.3224G>T	16.37:g.21080893C>A	ENSP00000261383:p.Arg1075Leu	34	0		44	2	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.174732	0.01646	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.60171	0.21;0.21	5.4	4.22	0.49857	Dynein heavy chain, domain-2 (1);	0.726956	0.12981	N	0.423277	T	0.18299	0.0439	N	0.00750	-1.22	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.47636	-0.9102	10	0.02654	T	1	.	2.0715	0.03614	0.3159:0.4174:0.1475:0.1193	.	1075	Q8TD57	DYH3_HUMAN	L	1075	ENSP00000261383:R1075L;ENSP00000394245:R1075L	ENSP00000261383:R1075L	R	-	2	0	DNAH3	20988394	0.001000	0.12720	0.952000	0.39060	0.634000	0.38068	0.318000	0.19504	2.696000	0.92011	0.655000	0.94253	CGC	.		0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21080893	C	A	21080893	3	1	20	1	0	0	0	0	1	0	0	0	4617	768	27	2	9285	2	DNAH3	16	21080893	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	18954394	21080893	69273860	98	2781											
MYO1C	4641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	1384109	1384109	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:1384109C>A	ENST00000575158.1	-	6	769	c.593G>T	c.(592-594)gGg>gTg	p.G198V	MYO1C_ENST00000438665.2_Missense_Mutation_p.G214V|MYO1C_ENST00000545534.2_Missense_Mutation_p.G209V|MYO1C_ENST00000359786.5_Missense_Mutation_p.G233V|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000361007.2_Missense_Mutation_p.G198V			Q12965	MYO1E_HUMAN	myosin IC	205	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)|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)		GTTCCGCTCCCCATGATTCTG	0.622																																					p.G233V		.											.	.	.	0			c.G698T						.						102	100	100					17																	1384109		2203	4300	6503	SO:0001583	missense	4641	exon6			CGCTCCCCATGAT	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.593G>T	17.37:g.1384109C>A	ENSP00000459174:p.Gly198Val	79	0		68	33	NM_001080779	Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376460	0.82682	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90390	0.6992	H	0.95745	3.715	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	0.93137	0.6538	10	0.87932	D	0	.	17.366	0.87364	0.0:1.0:0.0:0.0	.	209;233;214	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	V	233;214;214;198;209;198	ENSP00000352834:G233V;ENSP00000412197:G214V;ENSP00000354283:G198V;ENSP00000437685:G209V	ENSP00000352834:G233V	G	-	2	0	MYO1C	1330859	1.000000	0.71417	0.987000	0.45799	0.745000	0.42441	7.651000	0.83577	2.575000	0.86900	0.462000	0.41574	GGG	.		0.622	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			A	1384109	C	A	1384109	3	1	20	1	0	0	0	0	1	0	0	0	10108	623	22	3	2601	3	MYO1C	17	1384109	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		1384109	79811101	99	2782											
WDR81	124997	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	1628548	1628548	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:1628548C>T	ENST00000409644.1	+	1	295	c.295C>T	c.(295-297)Cct>Tct	p.P99S	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	99					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)		GCAAAGGCTGCCTGCCGGCTG	0.716																																					p.P99S		.											.	.	.	0			c.C295T						.						2	3	2					17																	1628548		590	1405	1995	SO:0001583	missense	124997	exon1			AGGCTGCCTGCCG	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.295C>T	17.37:g.1628548C>T	ENSP00000386609:p.Pro99Ser	17	0		16	6	NM_001163809	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059814	0.76074	.	.	ENSG00000167716	ENST00000409644	T	0.52295	0.67	5.92	3.83	0.44106	.	.	.	.	.	T	0.55909	0.1950	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56721	-0.7932	6	0.45353	T	0.12	.	11.4413	0.50099	0.0:0.8064:0.126:0.0676	.	.	.	.	S	99	ENSP00000386609:P99S	ENSP00000386609:P99S	P	+	1	0	WDR81	1575298	1.000000	0.71417	0.996000	0.52242	0.637000	0.38172	5.855000	0.69510	1.511000	0.48818	-0.145000	0.13849	CCT	.		0.716	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		T	1628548	C	T	1628548	3	4	20	1	0	0	0	0	1	0	0	0	17379	739	26	3	359	3	WDR81	17	1628548	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	244439	1628548	79566662	100	2783											
GPS2	2874	broad.mit.edu;bcgsc.ca	37	17	7216378	7216378	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:7216378C>G	ENST00000380728.2	-	10	1170	c.870G>C	c.(868-870)caG>caC	p.Q290H	GPS2_ENST00000389167.5_Missense_Mutation_p.Q290H|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.Q290H			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	290					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCACAGGGAGCTGGGGGGAAG	0.557																																					p.Q290H													.	GPS2	44	0			c.G870C						.						64	75	71					17																	7216378		2203	4300	6503	SO:0001583	missense	2874	exon10			AGGGAGCTGGGGG	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.870G>C	17.37:g.7216378C>G	ENSP00000370104:p.Gln290His	18	0		7	3	NM_004489	B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538210	0.45176	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.45276	0.9;0.9	4.59	3.62	0.41486	.	0.366635	0.25022	U	0.033760	T	0.38401	0.1039	N	0.19112	0.55	0.34456	D	0.701208	D	0.53885	0.963	P	0.52217	0.693	T	0.55451	-0.8139	10	0.66056	D	0.02	-2.5989	11.8244	0.52259	0.0:0.9129:0.0:0.087	.	290	Q13227	GPS2_HUMAN	H	290	ENSP00000370104:Q290H;ENSP00000379841:Q290H	ENSP00000319371:Q290H	Q	-	3	2	GPS2	7157102	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.211000	0.32382	1.160000	0.42584	-0.150000	0.13652	CAG	.		0.557	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		G	7216378	C	G	7216378	3	3	20	1	0	0	0	0	1	0	0	0	6760	796	28	5	121	5	GPS2	17	7216378	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	5587830	7216378	73978832	101	2784			1	2		3	3	326	C		8.576881e-07
GPS2	2874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7216573	7216573	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:7216573C>A	ENST00000380728.2	-	9	1062	c.762G>T	c.(760-762)aaG>aaT	p.K254N	GPS2_ENST00000389167.5_Missense_Mutation_p.K254N|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.K254N			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	254					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTTCCATCTGCTTTTGCAAGG	0.537											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K254N		.											.	.	.	0			c.G762T						.						130	127	128					17																	7216573		2203	4300	6503	SO:0001583	missense	2874	exon9			CATCTGCTTTTGC	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.762G>T	17.37:g.7216573C>A	ENSP00000370104:p.Lys254Asn	33	0	640	38	19	NM_004489	B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616199	0.66672	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.61392	0.11;0.11	4.72	1.64	0.23874	.	0.000000	0.85682	U	0.000000	T	0.60196	0.2250	L	0.29908	0.895	0.54753	D	0.999981	D	0.76494	0.999	D	0.78314	0.991	T	0.58423	-0.7639	10	0.66056	D	0.02	-0.6767	8.6695	0.34140	0.0:0.739:0.0:0.261	.	254	Q13227	GPS2_HUMAN	N	254	ENSP00000370104:K254N;ENSP00000379841:K254N	ENSP00000319371:K254N	K	-	3	2	GPS2	7157297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.431000	0.34925	0.215000	0.20761	0.643000	0.83706	AAG	.		0.537	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		A	7216573	C	A	7216573	3	1	20	1	0	0	0	0	1	0	0	0	6760	796	28	3	233	3	GPS2	17	7216573	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	195	7216573	73978637	102	2785			1	2		3	3	326	C		8.576881e-07
GPS2	2874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7216703	7216703	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:7216703C>G	ENST00000380728.2	-	8	1020	c.720G>C	c.(718-720)caG>caC	p.Q240H	GPS2_ENST00000389167.5_Missense_Mutation_p.Q240H|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.Q240H			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	240					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TATCACCTGTCTGAGTGGGCT	0.547											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q240H		.											.	.	.	0			c.G720C						.						96	99	98					17																	7216703		2203	4300	6503	SO:0001583	missense	2874	exon8			ACCTGTCTGAGTG	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.720G>C	17.37:g.7216703C>G	ENSP00000370104:p.Gln240His	41	0	640	28	14	NM_004489	B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396115	0.42512	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.52526	0.66;0.66	4.74	1.51	0.23008	.	0.240755	0.26549	U	0.023748	T	0.40815	0.1132	N	0.17082	0.46	0.43408	D	0.995549	D	0.64830	0.994	P	0.62649	0.905	T	0.23511	-1.0186	10	0.31617	T	0.26	.	4.4745	0.11729	0.1622:0.5489:0.0:0.2889	.	240	Q13227	GPS2_HUMAN	H	240	ENSP00000370104:Q240H;ENSP00000379841:Q240H	ENSP00000319371:Q240H	Q	-	3	2	GPS2	7157427	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	-0.039000	0.12124	0.618000	0.30179	0.655000	0.94253	CAG	.		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		G	7216703	C	G	7216703	3	3	20	1	0	0	0	0	1	0	0	0	6760	912	32	5	279	5	GPS2	17	7216703	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	130	7216703	73978507	103	2786			1	2		3	3	326	C		8.576881e-07
CHD3	1107	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	7798770	7798770	+	Silent	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:7798770C>T	ENST00000330494.7	+	10	1767	c.1617C>T	c.(1615-1617)ccC>ccT	p.P539P	CHD3_ENST00000358181.4_Silent_p.P539P|CHD3_ENST00000380358.4_Silent_p.P598P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	539	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)				TCCCACCCCCCCGTCCTCTTC	0.577																																					p.P598P		.											.	.	.	0			c.C1794T						.						133	105	114					17																	7798770		2203	4300	6503	SO:0001819	synonymous_variant	1107	exon10			ACCCCCCCGTCCT	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.1617C>T	17.37:g.7798770C>T		43	0		27	4	NM_001005271	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	0.121	-1.125778	0.01770	.	.	ENSG00000170004	ENST00000452447	D	0.94232	-3.38	5.25	-6.54	0.01860	.	0.000000	0.45867	D	0.000324	D	0.88749	0.6521	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.77424	-0.2593	7	0.44086	T	0.13	-5.6162	1.3797	0.02228	0.1729:0.3015:0.1557:0.37	.	.	.	.	S	410	ENSP00000405861:P410S	ENSP00000405861:P410S	P	+	1	0	CHD3	7739495	0.000000	0.05858	0.004000	0.12327	0.103000	0.19146	-2.469000	0.00992	-1.540000	0.01730	-1.268000	0.01426	CCG	.		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		T	7798770	C	T	7798770	2	4	20	1	0	0	0	0	0	0	0	1	3333	610	22	3		3	CHD3	17	7798770	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	582067	7798770	73396440	104	2787											
MYH13	8735	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	10215287	10215287	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:10215287G>A	ENST00000418404.3	-	31	4635	c.4472C>T	c.(4471-4473)gCc>gTc	p.A1491V	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1491V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1491					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						CTCCTCATAGGCATTCCTCAT	0.527																																					p.A1491V		.											.	.	.	0			c.C4472T						.						105	106	105					17																	10215287		2059	4207	6266	SO:0001583	missense	8735	exon32			TCATAGGCATTCC	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.4472C>T	17.37:g.10215287G>A	ENSP00000404570:p.Ala1491Val	36	0		33	4	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368914	0.61624	.	.	ENSG00000006788	ENST00000252172	T	0.78707	-1.2	4.45	4.45	0.53987	Myosin tail (1);	.	.	.	.	D	0.85570	0.5727	M	0.88105	2.93	0.43536	D	0.99582	B	0.16603	0.018	B	0.37451	0.25	D	0.86081	0.1544	9	0.72032	D	0.01	.	17.6487	0.88157	0.0:0.0:1.0:0.0	.	1491	Q9UKX3	MYH13_HUMAN	V	1491	ENSP00000252172:A1491V	ENSP00000252172:A1491V	A	-	2	0	MYH13	10156012	1.000000	0.71417	0.744000	0.31058	0.538000	0.34931	9.596000	0.98267	2.465000	0.83290	0.655000	0.94253	GCC	.		0.527	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	10215287	G	A	10215287	3	1	20	1	0	0	0	0	1	0	0	0	10070	1203	42	3	1384	3	MYH13	17	10215287	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	2416517	10215287	70979923	105	2788											
CDC27	996	hgsc.bcm.edu	37	17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					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.V201I(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						TCCGTAAGAACTGTCTCAGGC	0.338																																					p.V201I		.											CDC27_ENST00000531206,NS,carcinoma,0,2	CDC27_ENST00000531206	0	2	Substitution - Missense(2)	kidney(2)	c.G601A						.						58	59	59					17																	45234625		2203	4300	6503	SO:0001583	missense	996	exon6			TAAGAACTGTCTC	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.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile	55	1		50	6	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT	.		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45234625	C	T	45234625	3	4	20	1	0	0	0	0	1	0	0	0	3073	565	20	3	1947	3	CDC27	17	45234625	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	35019338	45234625	35960585	106	2789											
BCAS3	54828	hgsc.bcm.edu	37	17	59112151	59112151	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr17:59112151G>T	ENST00000390652.5	+	18	1838	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	BCAS3_ENST00000589222.1_Splice_Site_p.D588Y|BCAS3_ENST00000408905.3_Splice_Site_p.D588Y|BCAS3_ENST00000588462.1_Splice_Site_p.D603Y|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588874.1_Splice_Site_p.D359Y|BCAS3_ENST00000585744.1_Splice_Site_p.D374Y|BCAS3_ENST00000407086.3_Splice_Site_p.D588Y	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAGAGAAAAAGGTATGTATTT	0.368																																					p.D603Y		.											.	.	.	0			c.G1807T						.						83	79	80					17																	59112151		1794	4070	5864	SO:0001630	splice_region_variant	54828	exon18			GAAAAAGGTATGT	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1807+1G>T	17.37:g.59112151G>T		47	0		74	4	NM_001099432		Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664684	0.88251	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.32988	1.43;1.45;1.43	6.06	6.06	0.98353	.	0.152324	0.56097	D	0.000027	T	0.48241	0.1489	L	0.34521	1.04	0.58432	D	0.999996	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;0.998;0.999;0.998;0.999;0.997	T	0.20273	-1.0280	10	0.40728	T	0.16	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	379;588;603;588;603;588	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	Y	603;588;618;588;380	ENSP00000375067:D603Y;ENSP00000385323:D588Y;ENSP00000386173:D588Y	ENSP00000353336:D380Y	D	+	1	0	BCAS3	56466933	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GAT	.		0.368	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	Missense_Mutation	T	59112151	G	T	59112151	5	4	20	1	0	0	0	0	0	0	1	0	1353	1014	35	3	1873	3	BCAS3	17	59112151	Splice_Site	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	13877526	59112151	22083059	107	2790											
PTPN2	5771	hgsc.bcm.edu	37	18	12802116	12802116	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr18:12802116G>T	ENST00000309660.5	-	8	986	c.893C>A	c.(892-894)tCt>tAt	p.S298Y	PTPN2_ENST00000327283.3_Missense_Mutation_p.S298Y|PTPN2_ENST00000353319.4_Missense_Mutation_p.S298Y|PTPN2_ENST00000591115.1_Missense_Mutation_p.S321Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.S269Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	298					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)				AAAGGCAGGAGATAAGTCTTC	0.318																																					p.S321Y		.											PTPN2,colon,carcinoma,0,1	PTPN2	0	0			c.C962A						.						95	82	87					18																	12802116		2203	4300	6503	SO:0001583	missense	5771	exon9			GCAGGAGATAAGT	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.893C>A	18.37:g.12802116G>T	ENSP00000311857:p.Ser298Tyr	46	0		49	3	NM_001207013	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963469	0.53507	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.04156	3.7;3.72;3.69	5.52	1.58	0.23477	.	0.539313	0.16636	N	0.205840	T	0.03220	0.0094	L	0.36672	1.1	0.18873	N	0.999987	P;P;P;P;B	0.44478	0.667;0.482;0.836;0.498;0.351	B;B;B;B;B	0.39152	0.285;0.292;0.285;0.098;0.153	T	0.38001	-0.9681	10	0.11182	T	0.66	.	4.6839	0.12748	0.0837:0.3344:0.4538:0.1281	.	298;298;275;298;298	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	Y	298;298;275;298	ENSP00000320298:S298Y;ENSP00000320546:S298Y;ENSP00000311857:S298Y	ENSP00000311857:S298Y	S	-	2	0	PTPN2	12792116	0.995000	0.38212	0.650000	0.29550	0.988000	0.76386	1.748000	0.38308	0.066000	0.16515	0.557000	0.71058	TCT	.		0.318	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		T	12802116	G	T	12802116	3	4	20	1	0	0	0	0	1	0	0	0	12828	942	33	3	388	3	PTPN2	18	12802116	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		12802116	65275132	108	2791											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558341	11558341	+	Missense_Mutation	SNP	G	G	C	rs71166603|rs3217229	byFrequency	TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr19:11558341G>C	ENST00000589838.1	+	10	937	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	PRKCSH_ENST00000587327.1_Missense_Mutation_p.E313Q|PRKCSH_ENST00000592741.1_Missense_Mutation_p.E313Q|PRKCSH_ENST00000591462.1_Missense_Mutation_p.E313Q|PRKCSH_ENST00000252455.2_Missense_Mutation_p.E313Q|PRKCSH_ENST00000412601.1_Missense_Mutation_p.E313Q			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	313	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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GTCGCCCACAgaggaggagga	0.657																																					p.E313Q		.											.,2	.	55	0			c.G937C						.						19	20	20					19																	11558341		2196	4291	6487	SO:0001583	missense	5589	exon11			CCCACAGAGGAGG		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.937G>C	19.37:g.11558341G>C	ENSP00000465461:p.Glu313Gln	22	1		29	3	NM_001001329	A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023840	0.19433	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.73789	-0.78;-0.77	3.58	3.58	0.41010	.	2.963640	0.01189	N	0.007295	T	0.73393	0.3581	L	0.36672	1.1	0.52099	D	0.99994	P;B;D	0.56035	0.915;0.295;0.974	B;B;P	0.47299	0.374;0.13;0.543	T	0.65961	-0.6041	10	0.20519	T	0.43	-10.1062	13.4576	0.61208	0.0:0.0:1.0:0.0	.	313;313;313	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	Q	313	ENSP00000252455:E313Q;ENSP00000395616:E313Q	ENSP00000252455:E313Q	E	+	1	0	PRKCSH	11419341	0.979000	0.34478	0.926000	0.36857	0.025000	0.11179	2.848000	0.48278	2.301000	0.77427	0.491000	0.48974	GAG	.		0.657	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			C	11558341	G	C	11558341	3	2	20	1	0	0	0	0	1	0	0	0	12558	943	33	5	975	5	PRKCSH	19	11558341	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		11558341	47570642	109	2792											
OR10H4	126541	hgsc.bcm.edu	37	19	16060516	16060516	+	Silent	SNP	C	C	T	rs370722157		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr19:16060516C>T	ENST00000322107.1	+	1	699	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	233						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						TTCCCTCTGCCGAAGGCCGGC	0.512																																					p.A233A		.											OR10H4,NS,carcinoma,0,1	OR10H4	0	0			c.C699T						.	C		0,4406		0,0,2203	196	179	185		699	-1.6	0.1	19		185	2,8598		0,2,4298	no	coding-synonymous	OR10H4	NM_001004465.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		233/317	16060516	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	126541	exon1			CTCTGCCGAAGGC	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.699C>T	19.37:g.16060516C>T		30	0		41	2	NM_001004465	Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	CCDS32941.1																																																																																			.		0.512	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			T	16060516	C	T	16060516	2	4	20	1	0	0	0	0	0	0	0	1	10947	639	23	1		1	OR10H4	19	16060516	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	4502175	16060516	43068467	110	2793											
ATP13A1	57130	ucsc.edu;bcgsc.ca	37	19	19765461	19765461	+	Silent	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr19:19765461G>A	ENST00000357324.6	-	13	1730	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.H450H	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	568						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						CCAGGGCCCGGTGTGTTTCTA	0.647																																					p.H568H	Esophageal Squamous(142;920 1789 9047 14684 24777)												.	ATP13A1	82	0			c.C1704T						.						110	90	97					19																	19765461		2203	4300	6503	SO:0001819	synonymous_variant	57130	exon13			GGCCCGGTGTGTT	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.1704C>T	19.37:g.19765461G>A		29	0		26	4	NM_020410	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	CCDS32970.2																																																																																			.		0.647	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		A	19765461	G	A	19765461	2	1	20	1	0	0	0	0	0	0	0	1	1124	1252	44	3		3	ATP13A1	19	19765461	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	3704945	19765461	39363522	111	2794											
ZNF100	163227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	21910728	21910728	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr19:21910728T>A	ENST00000358296.6	-	5	584	c.386A>T	c.(385-387)gAa>gTa	p.E129V	ZNF100_ENST00000305570.6_Missense_Mutation_p.E65V	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CAGAATCGCTTCTTGAAAAGA	0.318																																					p.E129V		.											.	.	.	0			c.A386T						.						59	57	58					19																	21910728		1930	4167	6097	SO:0001583	missense	163227	exon5			ATCGCTTCTTGAA	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.386A>T	19.37:g.21910728T>A	ENSP00000351042:p.Glu129Val	78	0		45	21	NM_173531	Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	9.776	1.173969	0.21704	.	.	ENSG00000197020	ENST00000358296	T	0.05717	3.4	0.131	0.131	0.14755	.	.	.	.	.	T	0.04998	0.0134	L	0.40543	1.245	0.20196	N	0.999926	B;P	0.38745	0.136;0.645	B;B	0.32533	0.04;0.147	T	0.34900	-0.9810	9	0.66056	D	0.02	.	6.0091	0.19565	0.0:1.0E-4:0.0:0.9999	.	129;183	Q8IYN0;Q4G131	ZN100_HUMAN;.	V	129	ENSP00000351042:E129V	ENSP00000351042:E129V	E	-	2	0	ZNF100	21702568	0.034000	0.19679	0.097000	0.21041	0.096000	0.18686	0.903000	0.28475	0.148000	0.19059	0.147000	0.16070	GAA	.		0.318	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		A	21910728	T	A	21910728	3	1	20	1	0	0	0	0	1	0	0	0	17761	1783	62	5	1246	5	ZNF100	19	21910728	Missense_Mutation	SNP	T	TCGA-W5-AA31-01A-11D-A417-09	2145267	21910728	37218255	112	2795											
ZNF45	7596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	44417593	44417593	+	Silent	SNP	A	A	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr19:44417593A>G	ENST00000269973.5	-	10	3085	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.D665D	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	665					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						TGTCACCCTCATCATCAGCAT	0.413																																					p.D665D		.											.	.	.	0			c.T1995C						.						82	75	77					19																	44417593		2203	4300	6503	SO:0001819	synonymous_variant	7596	exon10			ACCCTCATCATCA	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.1995T>C	19.37:g.44417593A>G		37	0		53	22	NM_003425	P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	CCDS12632.1																																																																																			.		0.413	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		G	44417593	A	G	44417593	2	3	20	1	0	0	0	0	0	0	0	1	17969	214	8	4		4	ZNF45	19	44417593	Silent	SNP	A	TCGA-W5-AA31-01A-11D-A417-09	22506865	44417593	14711390	113	2796											
PLA2G4C	8605	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	48565379	48565379	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr19:48565379C>T	ENST00000599921.1	-	14	1490	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R388Q|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.R378Q|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R378Q|CTD-2265M8.2_ENST00000596552.1_RNA			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	378	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)		GAGGTGCTTCCGGCTGCTCAT	0.577																																					p.R388Q		.											.	.	.	0			c.G1163A						.						71	54	60					19																	48565379		2203	4300	6503	SO:0001583	missense	8605	exon14			TGCTTCCGGCTGC	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.1133G>A	19.37:g.48565379C>T	ENSP00000469473:p.Arg378Gln	27	0		35	5	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248717	0.22880	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.12361	2.69;2.69	2.79	-0.043	0.13861	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	17.580700	0.00815	N	0.001520	T	0.09291	0.0229	L	0.29908	0.895	0.09310	N	1	B;B	0.25312	0.051;0.123	B;B	0.09377	0.004;0.003	T	0.21861	-1.0233	10	0.15952	T	0.53	-4.9703	4.0954	0.09988	0.0:0.5062:0.0:0.4938	.	388;378	B4DI40;Q9UP65	.;PA24C_HUMAN	Q	378	ENSP00000346228:R378Q;ENSP00000400036:R378Q	ENSP00000346228:R378Q	R	-	2	0	PLA2G4C	53257191	0.000000	0.05858	0.006000	0.13384	0.048000	0.14542	0.032000	0.13732	0.273000	0.22049	0.405000	0.27470	CGG	.		0.577	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			T	48565379	C	T	48565379	3	4	20	1	0	0	0	0	1	0	0	0	12042	652	23	1	512	1	PLA2G4C	19	48565379	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	4147786	48565379	10563604	114	2797											
GYS1	2997	hgsc.bcm.edu	37	19	49473939	49473939	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr19:49473939C>T	ENST00000323798.3	-	14	1869	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	GYS1_ENST00000541188.1_Missense_Mutation_p.R478H|GYS1_ENST00000544287.1_Missense_Mutation_p.R191H|GYS1_ENST00000263276.6_Missense_Mutation_p.R494H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	558					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)		ATCCAGGCTGCGGAACCGCCG	0.592											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R558H		.											.	.	.	0			c.G1673A						.						37	40	39					19																	49473939		2203	4300	6503	SO:0001583	missense	2997	exon14			AGGCTGCGGAACC		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.1673G>A	19.37:g.49473939C>T	ENSP00000317904:p.Arg558His	96	0	962	99	3	NM_002103	Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549679	0.65311	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.49	5.49	0.81192	.	0.053085	0.85682	D	0.000000	T	0.69895	0.3162	L	0.33485	1.01	0.80722	D	1	B;D;P	0.89917	0.377;1.0;0.759	B;D;B	0.69307	0.111;0.963;0.222	T	0.68017	-0.5520	10	0.40728	T	0.16	-27.3843	17.2422	0.87016	0.0:1.0:0.0:0.0	.	478;494;558	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	H	558;494;478;191	ENSP00000317904:R558H;ENSP00000263276:R494H;ENSP00000437922:R478H;ENSP00000444004:R191H	ENSP00000263276:R494H	R	-	2	0	GYS1	54165751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.361000	0.59461	2.756000	0.94617	0.561000	0.74099	CGC	.		0.592	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		T	49473939	C	T	49473939	3	4	20	1	0	0	0	0	1	0	0	0	6939	768	27	1	552	1	GYS1	19	49473939	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	908560	49473939	9655044	115	2798											
BMP2	650	broad.mit.edu	37	20	6759625	6759625	+	Silent	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr20:6759625C>T	ENST00000378827.4	+	3	2299	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	360					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						CTAAGGCATGCTGTGTCCCGA	0.448																																					p.C360C													.	BMP2	45	0			c.C1080T						.						126	99	108					20																	6759625		2203	4300	6503	SO:0001819	synonymous_variant	650	exon3			GGCATGCTGTGTC		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.1080C>T	20.37:g.6759625C>T		41	0		29	3	NM_001200		Silent	SNP	ENST00000378827.4	37	CCDS13099.1																																																																																			.		0.448	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			T	6759625	C	T	6759625	2	4	20	1	0	0	0	0	0	0	0	1	1461	805	28	3		3	BMP2	20	6759625	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		6759625	56265895	116	2799											
FLRT3	23767	hgsc.bcm.edu	37	20	14307246	14307246	+	Missense_Mutation	SNP	G	G	T	rs150799973		TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr20:14307246G>T	ENST00000378053.3	-	2	1163	c.907C>A	c.(907-909)Cgc>Agc	p.R303S	FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R303S	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	303					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|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)	p.R303C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGATTGTTGCGAAGAATCAGT	0.438																																					p.R303S		.											FLRT3,colon,carcinoma,0,1	FLRT3	0	1	Substitution - Missense(1)	large_intestine(1)	c.C907A						.						80	76	78					20																	14307246		2203	4300	6503	SO:0001583	missense	23767	exon2			TGTTGCGAAGAAT	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.907C>A	20.37:g.14307246G>T	ENSP00000367292:p.Arg303Ser	34	0		45	2	NM_013281	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369503	0.61624	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.50548	0.74;0.74	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.00380	-1.58	0.80722	D	1	D	0.63880	0.993	D	0.68483	0.958	T	0.66131	-0.6000	10	0.27082	T	0.32	-8.1732	20.6397	0.99537	0.0:0.0:1.0:0.0	.	303	Q9NZU0	FLRT3_HUMAN	S	303	ENSP00000367292:R303S;ENSP00000339912:R303S	ENSP00000339912:R303S	R	-	1	0	FLRT3	14255246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.932000	0.87634	2.880000	0.98712	0.650000	0.86243	CGC	.		0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		T	14307246	G	T	14307246	3	4	20	1	0	0	0	0	1	0	0	0	5962	1058	37	2	1046	2	FLRT3	20	14307246	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	7547621	14307246	48718274	117	2800											
NDRG3	57446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	35315979	35315979	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr20:35315979T>C	ENST00000349004.1	-	5	317	c.236A>G	c.(235-237)gAt>gGt	p.D79G	NDRG3_ENST00000373803.2_Missense_Mutation_p.D79G|NDRG3_ENST00000359675.2_Missense_Mutation_p.D67G|NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000373773.3_Intron	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	79					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTCTTGCATATCCTCAAAGTT	0.453																																					p.D79G		.											.	.	.	0			c.A236G						.						104	90	95					20																	35315979		2203	4300	6503	SO:0001583	missense	57446	exon5			TGCATATCCTCAA	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.236A>G	20.37:g.35315979T>C	ENSP00000345292:p.Asp79Gly	53	0		62	25	NM_032013	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261361	0.80246	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000422536	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.74023	0.982;0.962	T	0.58730	-0.7585	10	0.56958	D	0.05	.	12.9261	0.58260	0.0:0.0:0.0:1.0	.	67;79	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	G	79;79;67;70	ENSP00000345292:D79G;ENSP00000362909:D79G;ENSP00000352703:D67G;ENSP00000416636:D70G	ENSP00000345292:D79G	D	-	2	0	NDRG3	34749393	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.768000	0.85345	2.151000	0.67156	0.459000	0.35465	GAT	.		0.453	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			C	35315979	T	C	35315979	3	2	20	1	0	0	0	0	1	0	0	0	10292	1435	50	4	939	4	NDRG3	20	35315979	Missense_Mutation	SNP	T	TCGA-W5-AA31-01A-11D-A417-09	21008733	35315979	27709541	118	2801											
SNX21	90203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	44463735	44463735	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr20:44463735G>A	ENST00000491381.1	+	3	495	c.427G>A	c.(427-429)Gac>Aac	p.D143N	SNX21_ENST00000462307.1_Missense_Mutation_p.D143N|SNX21_ENST00000372542.1_Missense_Mutation_p.D134N|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_Missense_Mutation_p.D134N|SNX21_ENST00000342644.5_Missense_Mutation_p.D143N|TNNC2_ENST00000372557.1_5'Flank			Q969T3	SNX21_HUMAN	sorting nexin family member 21	143	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)				CGTTGTCAAGGACCCGCCCTC	0.592																																					p.D143N		.											.	.	.	0			c.G427A						.						48	46	47					20																	44463735		2203	4300	6503	SO:0001583	missense	90203	exon3			GTCAAGGACCCGC	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.427G>A	20.37:g.44463735G>A	ENSP00000418593:p.Asp143Asn	19	0		26	8	NM_033421	Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252095	0.95336	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.32023	1.47;1.47;1.47	5.25	5.25	0.73442	Phox homologous domain (4);	0.159648	0.56097	D	0.000035	T	0.43656	0.1257	L	0.29908	0.895	0.42783	D	0.993874	D;D;D;D;D;D	0.71674	0.992;0.982;0.982;0.992;0.998;0.994	P;P;P;P;D;D	0.78314	0.856;0.864;0.864;0.856;0.991;0.946	T	0.19289	-1.0310	10	0.40728	T	0.16	-18.6741	16.168	0.81785	0.0:0.0:1.0:0.0	.	134;134;143;143;143;143	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	N	143;143;143;134;134;134	ENSP00000418593:D143N;ENSP00000344586:D143N;ENSP00000361620:D134N	ENSP00000344586:D143N	D	+	1	0	SNX21	43897142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.691000	0.84191	2.724000	0.93272	0.563000	0.77884	GAC	.		0.592	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		A	44463735	G	A	44463735	3	1	20	1	0	0	0	0	1	0	0	0	14938	1174	41	3	437	3	SNX21	20	44463735	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	9147756	44463735	18561785	119	2802											
CSE1L	1434	bcgsc.ca	37	20	47712955	47712955	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr20:47712955G>T	ENST00000262982.2	+	25	3019	c.2896G>T	c.(2896-2898)Gcc>Tcc	p.A966S	CSE1L_ENST00000542325.1_Missense_Mutation_p.A749S|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.A910S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	966					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCTTCAGGCAGCCAGTGTGAC	0.473																																					p.A966S													.	CSE1L	83	0			c.G2896T						.						129	107	114					20																	47712955		2203	4300	6503	SO:0001583	missense	1434	exon25			CAGGCAGCCAGTG	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2896G>T	20.37:g.47712955G>T	ENSP00000262982:p.Ala966Ser	30	0		49	4	NM_001316	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884138	0.72410	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.32753	2.17;1.44;2.43	5.72	5.72	0.89469	.	0.045207	0.85682	D	0.000000	T	0.19565	0.0470	N	0.08118	0	0.80722	D	1	B;B;B;B	0.30455	0.049;0.28;0.227;0.049	B;B;B;B	0.25614	0.033;0.062;0.059;0.033	T	0.06058	-1.0848	10	0.35671	T	0.21	-8.3768	20.244	0.98389	0.0:0.0:1.0:0.0	.	749;910;910;966	B4DUC5;A3RLL6;F8W904;P55060	.;.;.;XPO2_HUMAN	S	564;966;749;910	ENSP00000262982:A966S;ENSP00000446477:A749S;ENSP00000379495:A910S	ENSP00000262982:A966S	A	+	1	0	CSE1L	47146362	1.000000	0.71417	0.977000	0.42913	0.986000	0.74619	9.420000	0.97426	2.865000	0.98341	0.655000	0.94253	GCC	.		0.473	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		T	47712955	G	T	47712955	3	4	20	1	0	0	0	0	1	0	0	0	3939	971	34	3	2990	3	CSE1L	20	47712955	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	3249220	47712955	15312565	120	2803											
ATP9A	10079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	50290700	50290700	+	Silent	SNP	G	G	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr20:50290700G>A	ENST00000338821.5	-	11	1293	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	ATP9A_ENST00000311637.5_Silent_p.I207I|ATP9A_ENST00000402822.1_Silent_p.I222I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	343					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						ACCTAATGGGGATGATGTTGG	0.488																																					p.I343I		.											ATP9A,NS,malignant_melanoma,0,2	ATP9A	0	0			c.C1029T						.						93	77	82					20																	50290700		2203	4300	6503	SO:0001819	synonymous_variant	10079	exon11			AATGGGGATGATG	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.1029C>T	20.37:g.50290700G>A		35	0		39	8	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																			.		0.488	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		A	50290700	G	A	50290700	2	1	20	1	0	0	0	0	0	0	0	1	1199	1164	41	3		3	ATP9A	20	50290700	Silent	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	2577745	50290700	12734820	121	2804											
CARD10	29775	bcgsc.ca	37	22	37888537	37888537	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr22:37888537G>T	ENST00000403299.1	-	19	2872	c.2656C>A	c.(2656-2658)Ctg>Atg	p.L886M	CARD10_ENST00000251973.5_Missense_Mutation_p.L886M|CARD10_ENST00000406271.3_Missense_Mutation_p.L600M			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	886					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)					GATGGGCACAGTTCCTCCCCA	0.677																																					p.L886M													.	CARD10	55	0			c.C2656A						.						32	40	38					22																	37888537		2202	4300	6502	SO:0001583	missense	29775	exon18			GGCACAGTTCCTC	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.2656C>A	22.37:g.37888537G>T	ENSP00000384570:p.Leu886Met	56	0		59	4	NM_014550	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	3.732	-0.055305	0.07362	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.42513	0.97;2.67;0.97	4.81	3.78	0.43462	.	0.969423	0.08523	N	0.933140	T	0.28366	0.0701	N	0.08118	0	0.09310	N	1	B;P	0.39181	0.412;0.663	B;B	0.40101	0.125;0.319	T	0.19128	-1.0315	10	0.34782	T	0.22	-6.4448	12.1956	0.54294	0.0:0.1722:0.8278:0.0	.	886;600	Q9BWT7;Q8NC81	CAR10_HUMAN;.	M	886;600;886	ENSP00000384570:L886M;ENSP00000385799:L600M;ENSP00000251973:L886M	ENSP00000251973:L886M	L	-	1	2	CARD10	36218483	0.398000	0.25279	0.216000	0.23742	0.026000	0.11368	2.480000	0.45206	1.245000	0.43885	-0.176000	0.13171	CTG	.		0.677	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		T	37888537	G	T	37888537	3	4	20	1	0	0	0	0	1	0	0	0	2651	1020	36	3	454	3	CARD10	22	37888537	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09		37888537	13416029	122	2805											
TRIOBP	11078	hgsc.bcm.edu	37	22	38120876	38120876	+	Silent	SNP	C	C	A			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chr22:38120876C>A	ENST00000406386.3	+	7	2568	c.2313C>A	c.(2311-2313)tcC>tcA	p.S771S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	771					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)					TCAGAACATCCTGTACCCGAC	0.567																																					p.S771S		.											.	.	.	0			c.C2313A						.						140	150	147					22																	38120876		1970	4168	6138	SO:0001819	synonymous_variant	11078	exon7			AACATCCTGTACC	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.2313C>A	22.37:g.38120876C>A		82	0		82	3	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																			.		0.567	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38120876	C	A	38120876	2	1	20	1	0	0	0	0	0	0	0	1	16601	668	24	3		3	TRIOBP	22	38120876	Silent	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	232339	38120876	13183690	123	2806											
XAGE3	170626	hgsc.bcm.edu;bcgsc.ca	37	X	52893878	52893878	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chrX:52893878C>T	ENST00000346279.3	-	4	309	c.239G>A	c.(238-240)gGt>gAt	p.G80D	XAGE3_ENST00000375491.3_Missense_Mutation_p.G80D	NM_133179.2	NP_573440.1	Q8WTP9	XAGE3_HUMAN	X antigen family, member 3	80										kidney(1)|large_intestine(1)|lung(2)	4						TCCACATTCACCCCCAGTCTT	0.423																																					p.G80D		.											.	.	.	0			c.G239A						.						80	72	75					X																	52893878		2203	4299	6502	SO:0001583	missense	170626	exon4			CATTCACCCCCAG	BG354572	CCDS14347.1	Xp11.22	2010-09-27	2004-06-07	2005-01-27	ENSG00000171402	ENSG00000171402			14618	protein-coding gene	gene with protein product	"cancer/testis antigen family 12, member 3a", "cancer/testis antigen family 12, member 3b"	300740	"placenta-specific 6; G antigen, family D, 4"	PLAC6, GAGED4			Standard	NM_133179		Approved	XAGE-3, pp9012, CT12.3a, CT12.3b	uc004dre.3	Q8WTP9	OTTHUMG00000021587	ENST00000346279.3:c.239G>A	X.37:g.52893878C>T	ENSP00000303061:p.Gly80Asp	31	0		51	4	NM_133179	Q5JS82|Q8WYS9	Missense_Mutation	SNP	ENST00000346279.3	37	CCDS14347.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.475190	0.00011	.	.	ENSG00000171402	ENST00000375491;ENST00000346279	T;T	0.08458	3.09;3.09	1.09	-2.19	0.07015	.	.	.	.	.	T	0.02012	0.0063	N	0.01618	-0.8	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27706	-1.0066	9	0.05436	T	0.98	.	4.0633	0.09849	0.1779:0.5121:0.0:0.31	.	80	Q8WTP9	GAGD4_HUMAN	D	80	ENSP00000364640:G80D;ENSP00000303061:G80D	ENSP00000303061:G80D	G	-	2	0	XAGE3	52910603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.535000	0.02210	-3.108000	0.00242	-2.027000	0.00425	GGT	.		0.423	XAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056686.1	NM_133179		T	52893878	C	T	52893878	3	4	20	1	0	0	0	0	1	0	0	0	17469	507	18	3	104	3	XAGE3	23	52893878	Missense_Mutation	SNP	C	TCGA-W5-AA31-01A-11D-A417-09		52893878	102376682	124	2807											
BRWD3	254065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	79941034	79941034	+	Splice_Site	SNP	C	C	G			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chrX:79941034C>G	ENST00000373275.4	-	36	4223	c.4007G>C	c.(4006-4008)gGt>gCt	p.G1336A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1336	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						CTCCTGATGACCCTATTAGGG	0.388																																					p.G1336A		.											.	.	.	0			c.G4007C						.						81	61	68					X																	79941034		2203	4299	6502	SO:0001630	splice_region_variant	254065	exon36			TGATGACCCTATT		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.4006-1G>C	X.37:g.79941034C>G		36	0		51	34	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.556634	0.00910	.	.	ENSG00000165288	ENST00000373275	T	0.52983	0.64	4.59	-0.762	0.11034	Bromodomain (4);	0.805402	0.11201	N	0.588811	T	0.17619	0.0423	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	9	.	.	.	0.5552	2.3496	0.04280	0.3044:0.3081:0.2919:0.0955	.	1336	Q6RI45	BRWD3_HUMAN	A	1336	ENSP00000362372:G1336A	.	G	-	2	0	BRWD3	79827690	0.012000	0.17670	0.101000	0.21167	0.366000	0.29705	-0.290000	0.08354	-0.416000	0.07473	0.462000	0.41574	GGT	.		0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Missense_Mutation	G	79941034	C	G	79941034	5	3	20	1	0	0	0	0	0	0	1	0	1530	521	18	5	1425	5	BRWD3	23	79941034	Splice_Site	SNP	C	TCGA-W5-AA31-01A-11D-A417-09	27047156	79941034	75329526	125	2808											
GPC3	2719	bcgsc.ca	37	X	133119350	133119350	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA31-01A-11D-A417-09	TCGA-W5-AA31-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d14106d7-8efd-42d5-b203-5e2ede2aa7d8	619671b3-2530-4b47-bd7a-eaaa2c6e9e23	g.chrX:133119350G>T	ENST00000370818.3	-	1	572	c.127C>A	c.(127-129)Cag>Aag	p.Q43K	GPC3_ENST00000394299.2_Missense_Mutation_p.Q43K|GPC3_ENST00000543339.1_Missense_Mutation_p.Q43K	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	43					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)					TGCAGTCTCTGGAAGAAGGAG	0.692			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.Q43K			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88	0			c.C127A						.						31	28	29					X																	133119350		2201	4299	6500	SO:0001583	missense	2719	exon1	Familial Cancer Database	SGBS	GTCTCTGGAAGAA	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.127C>A	X.37:g.133119350G>T	ENSP00000359854:p.Gln43Lys	60	0		57	4	NM_001164617	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685246	0.68157	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.62105	0.76;0.76;0.05	4.47	4.47	0.54385	.	0.319390	0.26248	N	0.025467	T	0.70979	0.3286	L	0.58810	1.83	0.31193	N	0.700671	P;P;P;B	0.47191	0.891;0.811;0.87;0.368	P;P;P;B	0.57846	0.771;0.828;0.657;0.292	T	0.74853	-0.3523	10	0.66056	D	0.02	.	11.7642	0.51920	0.0:0.0:1.0:0.0	.	43;43;43;43	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	K	43	ENSP00000359854:Q43K;ENSP00000377836:Q43K;ENSP00000444222:Q43K	ENSP00000359854:Q43K	Q	-	1	0	GPC3	132947016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.768000	0.62293	1.811000	0.52892	0.529000	0.55759	CAG	.		0.692	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		T	133119350	G	T	133119350	3	4	20	1	0	0	0	0	1	0	0	0	6625	1357	47	3	1720	3	GPC3	23	133119350	Missense_Mutation	SNP	G	TCGA-W5-AA31-01A-11D-A417-09	53178316	133119350	22151210	126	2809											
ID3	3399	ucsc.edu;bcgsc.ca	37	1	23885891	23885891	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:23885891G>T	ENST00000374561.5	-	1	394	c.27C>A	c.(25-27)ggC>ggA	p.G9G	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	9					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)		CCTCGTAGCAGCCGCGCACCG	0.652																																					p.G9G													.	ID3	29	0			c.C27A						.						19	20	20					1																	23885891		2131	4177	6308	SO:0001819	synonymous_variant	3399	exon1			GTAGCAGCCGCGC	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.27C>A	1.37:g.23885891G>T		40	0		27	4	NM_002167	A8K1T8|O75641	Silent	SNP	ENST00000374561.5	37	CCDS237.1																																																																																			.		0.652	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167		T	23885891	G	T	23885891	2	4	21	1	0	0	0	0	0	0	0	1	7518	958	34	3		3	ID3	1	23885891	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		23885891	225364730	1	2810											
CYP4A22	284541	hgsc.bcm.edu	37	1	47608985	47608985	+	Silent	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:47608985C>A	ENST00000371891.3	+	5	586	c.555C>A	c.(553-555)gtC>gtA	p.V185V	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.V185V|CYP4A22_ENST00000294337.3_Silent_p.V185V	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)	p.V185V(1)		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						CTCTGGAGGTCTTTCAGCACG	0.542																																					p.V185V	Pancreas(88;1240 1470 2099 14214 37557)	.											CYP4A22,colon,carcinoma,0,1	CYP4A22	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C555A						.						73	67	69					1																	47608985		2203	4298	6501	SO:0001819	synonymous_variant	284541	exon5			GGAGGTCTTTCAG		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.555C>A	1.37:g.47608985C>A		53	0		38	2	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	CCDS30707.1																																																																																			.		0.542	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		A	47608985	C	A	47608985	2	1	21	1	0	0	0	0	0	0	0	1	4193	900	32	3		3	CYP4A22	1	47608985	Silent	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	23723094	47608985	201641636	2	2811											
DAB1	1600	hgsc.bcm.edu	37	1	57480714	57480714	+	Missense_Mutation	SNP	C	C	T	rs144347021		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:57480714C>T	ENST00000371231.1	-	13	1419	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.R343H|DAB1_ENST00000371236.2_Missense_Mutation_p.R429H|DAB1_ENST00000414851.2_Missense_Mutation_p.R411H|DAB1_ENST00000420954.2_Missense_Mutation_p.R427H|DAB1_ENST00000371234.4_Missense_Mutation_p.R429H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	462					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						GTCGGGTTTGCGGGAGGGCAC	0.562																																					p.R429H		.											DAB1,colon,carcinoma,0,3	DAB1	0	0			c.G1286A						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73	76	75		1286	5.5	1	1	dbSNP_134	75	0,8600		0,0,4300	no	missense	DAB1	NM_021080.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	429/556	57480714	1,13005	2203	4300	6503	SO:0001583	missense	1600	exon14			GGTTTGCGGGAGG	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.1385G>A	1.37:g.57480714C>T	ENSP00000360275:p.Arg462His	26	0		39	3	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876503	0.72180	2.27E-4	0.0	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.57907	0.37;0.37;0.4;0.37;1.42;0.43	5.54	5.54	0.83059	.	0.143973	0.64402	D	0.000011	T	0.70911	0.3278	M	0.65975	2.015	0.46631	D	0.999131	D;D;D;P;D	0.76494	0.999;0.996;0.996;0.948;0.999	P;P;P;P;D	0.63957	0.899;0.869;0.868;0.463;0.92	T	0.71998	-0.4423	10	0.72032	D	0.01	-40.0027	19.6787	0.95950	0.0:1.0:0.0:0.0	.	411;462;429;343;427	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	H	429;429;429;427;411;343;462	ENSP00000360280:R429H;ENSP00000360278:R429H;ENSP00000395296:R427H;ENSP00000387581:R411H;ENSP00000409328:R343H;ENSP00000360275:R462H	ENSP00000360275:R462H	R	-	2	0	DAB1	57253302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.572000	0.53849	2.890000	0.99128	0.650000	0.86243	CGC	0.000		0.562	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		T	57480714	C	T	57480714	3	4	21	1	0	0	0	0	1	0	0	0	4226	768	27	1	393	1	DAB1	1	57480714	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	9871729	57480714	191769907	3	2812											
C1orf173	127254	hgsc.bcm.edu	37	1	75039126	75039126	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:75039126G>T	ENST00000326665.5	-	14	2486	c.2268C>A	c.(2266-2268)aaC>aaA	p.N756K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		756	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						GGGATTCCTTGTTTGAGTTGA	0.403																																					p.N756K		.											C1orf173,right_upper_lobe,carcinoma,0,1	C1orf173	0	0			c.C2268A						.						90	92	91					1																	75039126		2203	4300	6503	SO:0001583	missense	127254	exon14			TTCCTTGTTTGAG																												ENST00000326665.5:c.2268C>A	1.37:g.75039126G>T	ENSP00000322609:p.Asn756Lys	38	0		21	2	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626844	0.46840	.	.	ENSG00000178965	ENST00000326665	T	0.13538	2.58	5.26	-0.288	0.12855	.	.	.	.	.	T	0.01765	0.0056	N	0.22421	0.69	0.09310	N	1	P	0.34462	0.454	B	0.34452	0.183	T	0.41875	-0.9484	9	0.13108	T	0.6	0.4601	1.0898	0.01661	0.3614:0.1453:0.344:0.1493	.	756	Q5RHP9	CA173_HUMAN	K	756	ENSP00000322609:N756K	ENSP00000322609:N756K	N	-	3	2	C1orf173	74811714	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.319000	0.08039	0.288000	0.22398	0.655000	0.94253	AAC	.		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			T	75039126	G	T	75039126	3	4	21	1	0	0	0	0	1	0	0	0	2021	1368	48	3	2328	3	C1orf173	1	75039126	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	17558412	75039126	174211495	4	2813											
DENND4B	9909	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	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.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																					p.Q900Q		.											DENND4B_ENST00000361217,NS,carcinoma,0,6	DENND4B_ENST00000361217	0	2	Substitution - coding silent(2)	lung(2)	c.G2700A						.						33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909	exon18			CTGTTGCTGCTGC	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.2700G>A	1.37:g.153907309C>T		19	0		24	4	NM_014856	Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																			.		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		T	153907309	C	T	153907309	2	4	21	1	0	0	0	0	0	0	0	1	4448	796	28	3		3	DENND4B	1	153907309	Silent	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	78868183	153907309	95343312	5	2814											
ABL2	27	hgsc.bcm.edu;ucsc.edu	37	1	179077425	179077425	+	Silent	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:179077425G>A	ENST00000502732.1	-	12	3180	c.2977C>T	c.(2977-2979)Ctg>Ttg	p.L993L	ABL2_ENST00000504405.1_Silent_p.L854L|ABL2_ENST00000512653.1_Silent_p.L978L|ABL2_ENST00000507173.1_Silent_p.L869L|ABL2_ENST00000408940.3_Silent_p.L957L|ABL2_ENST00000344730.3_Silent_p.L875L|ABL2_ENST00000367623.4_Silent_p.L972L|ABL2_ENST00000511413.1_Silent_p.L890L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	993	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|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)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGATGCTGCAGTAGTCTCATC	0.552			T	ETV6	AML																																p.L993L		.		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	.	.	0			c.C2977T						.						123	115	118					1																	179077425		2203	4300	6503	SO:0001819	synonymous_variant	27	exon12			GCTGCAGTAGTCT	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2977C>T	1.37:g.179077425G>A		19	0		32	4	NM_007314	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	CCDS30947.1																																																																																			.		0.552	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		A	179077425	G	A	179077425	2	1	21	1	0	0	0	0	0	0	0	1	93	1020	36	3		3	ABL2	1	179077425	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	25170116	179077425	70173196	6	2815											
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	181701852	181701852	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:181701852G>A	ENST00000367573.2	+	20	2630	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G877D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G484D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G858D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G858D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G809D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G828D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	877					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						TTGTCCCTGGGCCAGCGGGAG	0.652																																					p.G877D		.											.	.	.	0			c.G2630A						.						19	23	22					1																	181701852		1987	4166	6153	SO:0001583	missense	777	exon20			CCCTGGGCCAGCG	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.2630G>A	1.37:g.181701852G>A	ENSP00000356545:p.Gly877Asp	39	0		62	20	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186255	0.21870	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96041	-3.82;-3.84;-3.82;-3.84;-3.89;-3.84;-3.82	4.14	4.14	0.48551	.	0.577167	0.19397	N	0.115268	D	0.89248	0.6661	N	0.08118	0	0.35691	D	0.814861	P;P;P	0.44877	0.739;0.845;0.739	B;B;B	0.42087	0.375;0.368;0.375	D	0.90924	0.4785	10	0.33141	T	0.24	.	13.9441	0.64073	0.0:0.1538:0.8462:0.0	.	858;877;877	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	877;858;828;809;484;858;877	ENSP00000356542:G877D;ENSP00000434814:G858D;ENSP00000350183:G828D;ENSP00000351101:G809D;ENSP00000356539:G484D;ENSP00000353222:G858D;ENSP00000356545:G877D	ENSP00000350183:G828D	G	+	2	0	CACNA1E	179968475	0.713000	0.27926	1.000000	0.80357	0.568000	0.35870	3.098000	0.50259	2.596000	0.87737	0.561000	0.74099	GGC	.		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181701852	G	A	181701852	3	1	21	1	0	0	0	0	1	0	0	0	2549	1203	42	3	2708	3	CACNA1E	1	181701852	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	2624427	181701852	67548769	7	2816											
URB2	9816	hgsc.bcm.edu	37	1	229779333	229779333	+	Silent	SNP	T	T	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:229779333T>C	ENST00000258243.2	+	5	3824	c.3688T>C	c.(3688-3690)Ttg>Ctg	p.L1230L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1230						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L1230V(1)		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						TTTGGGAGCCTTGTTCACCCA	0.453																																					p.L1230L		.											URB2,colon,carcinoma,0,1	URB2	0	1	Substitution - Missense(1)	large_intestine(1)	c.T3688C						.						161	151	154					1																	229779333		2203	4300	6503	SO:0001819	synonymous_variant	9816	exon5			GGAGCCTTGTTCA	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.3688T>C	1.37:g.229779333T>C		41	0		39	2	NM_014777	Q5VYC9	Silent	SNP	ENST00000258243.2	37	CCDS31052.1																																																																																			.		0.453	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		C	229779333	T	C	229779333	2	2	21	1	0	0	0	0	0	0	0	1	17074	1606	56	4		4	URB2	1	229779333	Silent	SNP	T	TCGA-W5-AA33-01A-11D-A417-09	48077481	229779333	19471288	8	2817											
OR1C1	26188	hgsc.bcm.edu	37	1	247920861	247920861	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:247920861G>A	ENST00000408896.2	-	1	1121	c.848C>T	c.(847-849)cCg>cTg	p.P283L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	283					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.P283L(1)		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)			ATTCAGCATCGGAGCCACCAT	0.468																																					p.P283L		.											OR1C1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	OR1C1	0	1	Substitution - Missense(1)	central_nervous_system(1)	c.C848T						.						113	106	109					1																	247920861		1969	4169	6138	SO:0001583	missense	26188	exon1			AGCATCGGAGCCA	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.848C>T	1.37:g.247920861G>A	ENSP00000386138:p.Pro283Leu	38	0		21	3	NM_012353	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343684	0.24339	.	.	ENSG00000221888	ENST00000408896	T	0.00337	8.05	3.22	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00936	0.0031	H	0.98005	4.125	0.09310	N	0.999999	P	0.48162	0.906	P	0.51453	0.67	T	0.16600	-1.0397	9	0.66056	D	0.02	.	10.408	0.44276	0.1025:0.0:0.8975:0.0	.	283	Q15619	OR1C1_HUMAN	L	283	ENSP00000386138:P283L	ENSP00000386138:P283L	P	-	2	0	OR1C1	245987484	0.991000	0.36638	0.030000	0.17652	0.029000	0.11900	2.789000	0.47813	0.669000	0.31146	0.591000	0.81541	CCG	.		0.468	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			A	247920861	G	A	247920861	3	1	21	1	0	0	0	0	1	0	0	0	10991	1116	39	1	98	1	OR1C1	1	247920861	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	18141528	247920861	1329760	9	2818											
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576																																					p.1310_1310del	GBM(102;732 1451 20652 24062 31372)												.	OTOF	524	0			c.3928_3930del						.		,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381	exon32			AGTGCCCTTCTTC	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.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del	5	0		6	2	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	CCDS1725.1																																																																																			.		0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			-	26693556	CTT	-	26693554	7	5	21	1	0	1	0	1	0	0	0	0	11342	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-W5-AA33-01A-11D-A417-09		26693554	216505819	10	2819											
CLIP4	79745	hgsc.bcm.edu;bcgsc.ca	37	2	29397281	29397281	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:29397281A>G	ENST00000320081.5	+	15	2021	c.1766A>G	c.(1765-1767)aAg>aGg	p.K589R	CLIP4_ENST00000401605.1_Missense_Mutation_p.K589R|CLIP4_ENST00000401617.2_Missense_Mutation_p.K482R|CLIP4_ENST00000404424.1_Missense_Mutation_p.K589R	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	589										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCTTCCCAAAAGGAGATTAAC	0.328																																					p.K589R		.											.	.	.	0			c.A1766G						.						91	93	92					2																	29397281		2203	4300	6503	SO:0001583	missense	79745	exon15			CCCAAAAGGAGAT	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.1766A>G	2.37:g.29397281A>G	ENSP00000327009:p.Lys589Arg	102	0		90	4	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907603	0.33721	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.85	4.7	0.59300	Cytoskeleton-associated protein, Gly-rich domain (1);	0.400694	0.29980	N	0.010708	T	0.27454	0.0674	N	0.14661	0.345	0.29751	N	0.836312	B	0.12630	0.006	B	0.09377	0.004	T	0.16958	-1.0385	10	0.20519	T	0.43	.	8.6424	0.33985	0.8464:0.0:0.1536:0.0	.	589	Q8N3C7	CLIP4_HUMAN	R	589;482;589;591;589;607;549	ENSP00000384242:K589R;ENSP00000385148:K482R;ENSP00000385594:K589R;ENSP00000327009:K589R	ENSP00000327009:K589R	K	+	2	0	CLIP4	29250785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.393000	0.59665	1.041000	0.40125	0.533000	0.62120	AAG	.		0.328	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		G	29397281	A	G	29397281	3	3	21	1	0	0	0	0	1	0	0	0	3542	72	3	4	1820	4	CLIP4	2	29397281	Missense_Mutation	SNP	A	TCGA-W5-AA33-01A-11D-A417-09	2703727	29397281	213802092	11	2820											
ZC3H6	376940	hgsc.bcm.edu;bcgsc.ca	37	2	113069514	113069514	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:113069514G>T	ENST00000409871.1	+	5	1148	c.747G>T	c.(745-747)gaG>gaT	p.E249D	ZC3H6_ENST00000343936.4_Splice_Site_p.E249D	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	249							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACTTTCAAGAGGTACTAAGAA	0.378																																					p.E249D		.											.	.	.	0			c.G747T						.						61	63	62					2																	113069514		1837	4078	5915	SO:0001630	splice_region_variant	376940	exon5			TCAAGAGGTACTA	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.747+1G>T	2.37:g.113069514G>T		75	0		81	4	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106417	0.56291	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15487	2.42;2.42	4.98	4.98	0.66077	.	0.372648	0.28312	N	0.015807	T	0.17831	0.0428	M	0.64567	1.98	0.50467	D	0.999873	P	0.41313	0.745	B	0.32928	0.155	T	0.07424	-1.0773	10	0.22109	T	0.4	-12.21	17.1812	0.86855	0.0:0.0:1.0:0.0	.	249	P61129	ZC3H6_HUMAN	D	249;249;226	ENSP00000386764:E249D;ENSP00000340298:E249D	ENSP00000340298:E249D	E	+	3	2	ZC3H6	112785985	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.266000	0.72540	2.473000	0.83533	0.462000	0.41574	GAG	.		0.378	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	Missense_Mutation	T	113069514	G	T	113069514	5	4	21	1	0	0	0	0	0	0	1	0	17619	1014	35	3	765	3	ZC3H6	2	113069514	Splice_Site	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	83672233	113069514	130129859	12	2821											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125175026	125175026	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:125175026G>T	ENST00000431078.1	+	4	752	c.388G>T	c.(388-390)Gca>Tca	p.A130S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	130	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)		GCAGACCTTTGCAGGAAACAT	0.488																																					p.A130S		.											CNTNAP5,right_upper_lobe,carcinoma,0,1	CNTNAP5	0	0			c.G388T						.						76	75	75					2																	125175026		1994	4188	6182	SO:0001583	missense	129684	exon4			ACCTTTGCAGGAA	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.388G>T	2.37:g.125175026G>T	ENSP00000399013:p.Ala130Ser	36	0		28	2	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	4.457	0.084573	0.08583	.	.	ENSG00000155052	ENST00000431078	D	0.98135	-4.74	6.13	0.636	0.17729	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.536195	0.15993	N	0.234707	D	0.87160	0.6108	N	0.02334	-0.595	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.80623	-0.1300	10	0.02654	T	1	.	3.6913	0.08347	0.0991:0.1166:0.3914:0.3929	.	130	Q8WYK1	CNTP5_HUMAN	S	130	ENSP00000399013:A130S	ENSP00000399013:A130S	A	+	1	0	CNTNAP5	124891496	0.054000	0.20591	0.737000	0.30932	0.991000	0.79684	0.408000	0.21065	0.436000	0.26393	0.650000	0.86243	GCA	.		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125175026	G	T	125175026	3	4	21	1	0	0	0	0	1	0	0	0	3657	1319	46	3	402	3	CNTNAP5	2	125175026	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	12105512	125175026	118024347	13	2822											
DARS	1615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	136664945	136664945	+	Silent	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:136664945A>G	ENST00000264161.4	-	16	1662	c.1447T>C	c.(1447-1449)Ttg>Ctg	p.L483L	DARS_ENST00000537273.1_Silent_p.L383L	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	483					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACATTATGCAATCCCAGAAAC	0.413																																					p.L483L		.											.	.	.	0			c.T1447C						.						121	108	112					2																	136664945		2203	4300	6503	SO:0001819	synonymous_variant	1615	exon16			TATGCAATCCCAG	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1447T>C	2.37:g.136664945A>G		70	0		64	16	NM_001349	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	CCDS2180.1																																																																																			.		0.413	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		G	136664945	A	G	136664945	2	3	21	1	0	0	0	0	0	0	0	1	4250	98	4	4		4	DARS	2	136664945	Silent	SNP	A	TCGA-W5-AA33-01A-11D-A417-09	11489919	136664945	106534428	14	2823											
SPHKAP	80309	hgsc.bcm.edu	37	2	228996762	228996762	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:228996762C>T	ENST00000392056.3	-	2	118	c.72G>A	c.(70-72)ccG>ccA	p.P24P	SPHKAP_ENST00000344657.5_Silent_p.P24P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	24						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)		TGCCCTGCTGCGGTTCCAAAA	0.483																																					p.P24P		.											SPHKAP_ENST00000392056,NS,carcinoma,0,2	SPHKAP_ENST00000392056	0	0			c.G72A						.						87	90	89					2																	228996762		2203	4300	6503	SO:0001819	synonymous_variant	80309	exon2			CTGCTGCGGTTCC		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.72G>A	2.37:g.228996762C>T		46	0		41	2	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																			.		0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228996762	C	T	228996762	2	4	21	1	0	0	0	0	0	0	0	1	15095	755	27	1		1	SPHKAP	2	228996762	Silent	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	92331817	228996762	14202611	15	2824											
PLCL2	23228	hgsc.bcm.edu	37	3	17084422	17084422	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:17084422C>T	ENST00000418129.2	+	4	3162	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	PLCL2_ENST00000432376.1_Silent_p.I899I|PLCL2_ENST00000396755.2_Silent_p.I899I|PLCL2-AS1_ENST00000414844.2_RNA	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1025					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						ATGAAAAGATCGTACATTGTC	0.368																																					p.I899I		.											.	.	.	0			c.C2697T						.						210	204	206					3																	17084422		2203	4300	6503	SO:0001819	synonymous_variant	23228	exon4			AAAGATCGTACAT	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.2697C>T	3.37:g.17084422C>T		77	0		69	3	NM_015184	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.914990	0.17907	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.87	-5.91	0.02269	.	.	.	.	.	T	0.48205	0.1487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50857	-0.8778	4	.	.	.	.	7.7737	0.29023	0.1287:0.3777:0.0:0.4937	.	.	.	.	L	643	.	.	S	+	2	0	PLCL2	17059426	0.050000	0.20438	0.906000	0.35671	0.901000	0.52897	-1.970000	0.01504	-0.832000	0.04251	-0.205000	0.12727	TCG	.		0.368	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			T	17084422	C	T	17084422	2	4	21	1	0	0	0	0	0	0	0	1	12079	874	31	1		1	PLCL2	3	17084422	Silent	SNP	C	TCGA-W5-AA33-01A-11D-A417-09		17084422	180938008	16	2825											
SMARCC1	6599	hgsc.bcm.edu	37	3	47702803	47702803	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:47702803G>T	ENST00000254480.5	-	21	2420	c.2301C>A	c.(2299-2301)ccC>ccA	p.P767P	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	767					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.P767P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGGCTCATCGGGCCCTGTGC	0.473																																					p.P767P		.											SMARCC1,mouth,carcinoma,0,1	SMARCC1	0	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|lung(1)	c.C2301A						.						117	105	109					3																	47702803		2203	4300	6503	SO:0001819	synonymous_variant	6599	exon21			CTCATCGGGCCCT	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2301C>A	3.37:g.47702803G>T		30	0		25	2	NM_003074	Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																			.		0.473	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			T	47702803	G	T	47702803	2	4	21	1	0	0	0	0	0	0	0	1	14820	1103	39	2		2	SMARCC1	3	47702803	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	30618381	47702803	150319627	17	2826											
STAB1	23166	hgsc.bcm.edu;ucsc.edu	37	3	52536050	52536050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:52536050C>A	ENST00000321725.6	+	4	436	c.360C>A	c.(358-360)tgC>tgA	p.C120*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	120	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				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)		AGACCCCATGCAATGGCCACG	0.647																																					p.C120X		.											.	.	.	0			c.C360A						.						51	56	54					3																	52536050		2203	4300	6503	SO:0001587	stop_gained	23166	exon4			CCCATGCAATGGC	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.360C>A	3.37:g.52536050C>A	ENSP00000312946:p.Cys120*	37	0		20	4	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356194	0.61293	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.36	-1.54	0.08584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2201	8.7427	0.34567	0.0:0.3944:0.0:0.6056	.	.	.	.	X	120	.	ENSP00000312946:C120X	C	+	3	2	STAB1	52511090	0.918000	0.31147	0.472000	0.27241	0.993000	0.82548	0.677000	0.25262	-0.277000	0.09193	0.514000	0.50259	TGC	.		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52536050	C	A	52536050	4	1	21	1	0	0	0	0	0	1	0	0	15284	718	25	3	374	3	STAB1	3	52536050	Nonsense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	4833247	52536050	145486380	18	2827											
PTPRG	5793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	62268423	62268423	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:62268423C>T	ENST00000474889.1	+	28	4311	c.3934C>T	c.(3934-3936)Cgg>Tgg	p.R1312W	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R1283W|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1312	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		CTTAGAAGTTCGGCACTTTCA	0.423																																					p.R1312W		.											.	.	.	0			c.C3934T						.						210	198	202					3																	62268423		2203	4300	6503	SO:0001583	missense	5793	exon28			GAAGTTCGGCACT	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.3934C>T	3.37:g.62268423C>T	ENSP00000418112:p.Arg1312Trp	64	0		53	8	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969128	0.74131	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.84070	-1.8;-1.8	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.052053	0.64402	D	0.000001	D	0.91523	0.7323	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.966;0.995;0.997	D	0.91958	0.5576	10	0.87932	D	0	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	558;1283;1312	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	W	1312;1283	ENSP00000418112:R1312W;ENSP00000295874:R1283W	ENSP00000295874:R1283W	R	+	1	2	PTPRG	62243463	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	3.783000	0.55409	2.799000	0.96334	0.650000	0.86243	CGG	.		0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	62268423	C	T	62268423	3	4	21	1	0	0	0	0	1	0	0	0	12847	875	31	1	4044	1	PTPRG	3	62268423	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	9732373	62268423	135754007	19	2828											
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	108147371	108147371	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:108147371G>T	ENST00000273353.3	-	28	3786	c.3730C>A	c.(3730-3732)Ctg>Atg	p.L1244M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1244						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						ACACGGGTCAGGAGGTCATCT	0.512																																					p.L1244M		.											.	.	.	0			c.C3730A						.						239	223	228					3																	108147371		1942	4150	6092	SO:0001583	missense	22989	exon28			GGGTCAGGAGGTC	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.3730C>A	3.37:g.108147371G>T	ENSP00000273353:p.Leu1244Met	44	0		42	4	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418869	0.42918	.	.	ENSG00000144821	ENST00000273353	D	0.88201	-2.35	5.58	0.102	0.14522	Myosin tail (1);	.	.	.	.	D	0.88032	0.6328	L	0.43152	1.355	0.09310	N	1	D	0.55385	0.971	P	0.62491	0.903	T	0.76176	-0.3055	9	0.49607	T	0.09	.	1.5275	0.02528	0.2045:0.1194:0.1919:0.4842	.	1244	Q9Y2K3	MYH15_HUMAN	M	1244	ENSP00000273353:L1244M	ENSP00000273353:L1244M	L	-	1	2	MYH15	109630061	0.002000	0.14202	0.001000	0.08648	0.832000	0.47134	0.060000	0.14342	0.075000	0.16796	0.650000	0.86243	CTG	.		0.512	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108147371	G	T	108147371	3	4	21	1	0	0	0	0	1	0	0	0	10072	991	35	3	2170	3	MYH15	3	108147371	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	45878948	108147371	89875059	20	2829											
BOC	91653	broad.mit.edu	37	3	113002290	113002290	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:113002290C>T	ENST00000495514.1	+	16	3168	c.2464C>T	c.(2464-2466)Cca>Tca	p.P822S	BOC_ENST00000273395.4_Missense_Mutation_p.P823S|BOC_ENST00000355385.3_Missense_Mutation_p.P822S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	822					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)			TGGTCGACTGCCACCCCCAAC	0.552																																					p.P822S													.	BOC	139	0			c.C2464T						.						93	109	103					3																	113002290		2203	4300	6503	SO:0001583	missense	91653	exon16			CGACTGCCACCCC	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.2464C>T	3.37:g.113002290C>T	ENSP00000418663:p.Pro822Ser	39	0		28	3	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338329	0.41398	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.61510	0.1;0.11;0.1	5.85	4.97	0.65823	.	0.112837	0.64402	D	0.000010	T	0.65544	0.2701	L	0.60455	1.87	0.41392	D	0.98762	D;P;P	0.58268	0.982;0.735;0.616	P;B;B	0.56751	0.805;0.363;0.199	T	0.59273	-0.7485	10	0.18276	T	0.48	.	15.3623	0.74487	0.0:0.9322:0.0:0.0678	.	639;823;822	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	822;823;822	ENSP00000418663:P822S;ENSP00000273395:P823S;ENSP00000347546:P822S	ENSP00000273395:P823S	P	+	1	0	BOC	114484980	0.933000	0.31639	0.954000	0.39281	0.054000	0.15201	3.805000	0.55575	2.767000	0.95098	0.655000	0.94253	CCA	.		0.552	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		T	113002290	C	T	113002290	3	4	21	1	0	0	0	0	1	0	0	0	1483	739	26	3	2518	3	BOC	3	113002290	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	4854919	113002290	85020140	21	2830											
KIAA1407	57577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	113724730	113724730	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:113724730G>T	ENST00000295878.3	-	10	1639	c.1493C>A	c.(1492-1494)aCa>aAa	p.T498K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.T329K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	498										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCTGTTGTTGTTCTTCCCAG	0.532																																					p.T498K		.											.	.	.	0			c.C1493A						.						134	136	135					3																	113724730		2203	4300	6503	SO:0001583	missense	57577	exon10			GTTGTTGTTCTTC	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.1493C>A	3.37:g.113724730G>T	ENSP00000295878:p.Thr498Lys	8	0		17	4	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	2.307	-0.358868	0.05138	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.41065	1.61;1.01;1.03	5.23	4.29	0.51040	.	0.907811	0.09620	N	0.777723	T	0.19765	0.0475	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.15484	0.007;0.013;0.007	T	0.22487	-1.0215	10	0.05525	T	0.97	.	8.2856	0.31926	0.0863:0.0:0.7473:0.1664	.	485;374;498	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	K	498;329;485	ENSP00000295878:T498K;ENSP00000446381:T329K;ENSP00000418099:T485K	ENSP00000295878:T498K	T	-	2	0	KIAA1407	115207420	0.005000	0.15991	0.012000	0.15200	0.209000	0.24338	1.273000	0.33121	2.716000	0.92895	0.655000	0.94253	ACA	.		0.532	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		T	113724730	G	T	113724730	3	4	21	1	0	0	0	0	1	0	0	0	8256	1377	48	3	1349	3	KIAA1407	3	113724730	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	722440	113724730	84297700	22	2831											
MFSD1	64747	hgsc.bcm.edu	37	3	158538046	158538046	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:158538046C>T	ENST00000264266.8	+	9	856	c.794C>T	c.(793-795)cCc>cTc	p.P265L	MFSD1_ENST00000392813.4_Missense_Mutation_p.P275L|MFSD1_ENST00000415822.2_Missense_Mutation_p.P314L			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	265					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)			TTCTCCTTACCCCTGTGGCTT	0.358																																					p.P314L	Pancreas(62;1186 1654 36636 37908)	.											.	.	.	0			c.C941T						.						208	188	195					3																	158538046		2203	4298	6501	SO:0001583	missense	64747	exon9			CCTTACCCCTGTG	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.794C>T	3.37:g.158538046C>T	ENSP00000264266:p.Pro265Leu	89	0		78	3	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	C	17.64	3.440433	0.63067	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159;ENST00000477743	T;T;T;T	0.80480	0.28;0.28;0.28;-1.38	5.23	5.23	0.72850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.470298	0.23596	N	0.046492	T	0.75034	0.3795	L	0.27053	0.805	0.58432	D	0.999993	B;B	0.29805	0.131;0.257	B;B	0.36030	0.145;0.216	T	0.70960	-0.4730	10	0.28530	T	0.3	.	18.8419	0.92188	0.0:1.0:0.0:0.0	.	275;265	C9JS94;Q9H3U5	.;MFSD1_HUMAN	L	314;275;265;189;99	ENSP00000403117:P314L;ENSP00000376560:P275L;ENSP00000264266:P265L;ENSP00000417163:P99L	ENSP00000264266:P265L	P	+	2	0	MFSD1	160020740	0.907000	0.30839	0.998000	0.56505	0.998000	0.95712	5.746000	0.68681	2.451000	0.82905	0.650000	0.86243	CCC	.		0.358	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		T	158538046	C	T	158538046	3	4	21	1	0	0	0	0	1	0	0	0	9565	623	22	3	975	3	MFSD1	3	158538046	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	44813316	158538046	39484384	23	2832											
ANKRD17	26057	hgsc.bcm.edu	37	4	73943167	73943167	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr4:73943167G>T	ENST00000358602.4	-	32	7608	c.7492C>A	c.(7492-7494)Caa>Aaa	p.Q2498K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q2247K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2385K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2498					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)	p.Q2498E(1)		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)			TCCATTGCTTGATGTTGTGAA	0.453																																					p.Q2498K		.											ANKRD17,NS,carcinoma,0,1	ANKRD17	0	1	Substitution - Missense(1)	lung(1)	c.C7492A						.						191	171	178					4																	73943167		2203	4300	6503	SO:0001583	missense	26057	exon32			TTGCTTGATGTTG	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.7492C>A	4.37:g.73943167G>T	ENSP00000351416:p.Gln2498Lys	45	0		46	2	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038455	0.75617	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	T;T;T	0.74421	-0.84;-0.79;-0.78	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000008	D	0.84696	0.5529	L	0.58810	1.83	0.47862	D	0.999539	P;P;P;P	0.52577	0.954;0.954;0.924;0.924	D;D;P;P	0.67900	0.954;0.954;0.9;0.9	D	0.85269	0.1055	10	0.87932	D	0	.	19.7278	0.96172	0.0:0.0:1.0:0.0	.	2497;2247;2498;2385	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	2498;1905;2247;2385	ENSP00000351416:Q2498K;ENSP00000332265:Q2247K;ENSP00000427151:Q2385K	ENSP00000332265:Q2247K	Q	-	1	0	ANKRD17	74162031	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.766000	0.91728	2.681000	0.91329	0.563000	0.77884	CAA	.		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73943167	G	T	73943167	3	4	21	1	0	0	0	0	1	0	0	0	646	1299	45	3	331	3	ANKRD17	4	73943167	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		73943167	117211109	24	2833											
MAML3	55534	hgsc.bcm.edu	37	4	140811971	140811971	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr4:140811971G>A	ENST00000509479.2	-	2	1475	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	MAML3_ENST00000327122.5_Missense_Mutation_p.P51S|MAML3_ENST00000398940.1_5'Flank	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)					ATGTTACTGGGCAAATTGTTG	0.488																																					p.P207S		.											MAML3_ENST00000509479,NS,carcinoma,0,2	MAML3_ENST00000509479	0	0			c.C619T						.						84	82	83					4																	140811971		2051	4201	6252	SO:0001583	missense	55534	exon2			TACTGGGCAAATT	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.619C>T	4.37:g.140811971G>A	ENSP00000421180:p.Pro207Ser	54	0		61	3	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758456	0.31137	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.23552	1.9	5.05	5.05	0.67936	.	0.075962	0.52532	D	0.000069	T	0.22205	0.0535	L	0.47716	1.5	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.06862	-1.0803	10	0.62326	D	0.03	.	7.8866	0.29653	0.0807:0.0:0.758:0.1613	.	207	Q96JK9	MAML3_HUMAN	S	207;51	ENSP00000421180:P207S	ENSP00000313316:P51S	P	-	1	0	MAML3	141031421	1.000000	0.71417	0.819000	0.32651	0.813000	0.45954	1.987000	0.40687	2.326000	0.78906	0.585000	0.79938	CCC	.		0.488	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			A	140811971	G	A	140811971	3	1	21	1	0	0	0	0	1	0	0	0	9245	1203	42	3	2805	3	MAML3	4	140811971	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	66868804	140811971	50342305	25	2834											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	13919410	13919410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:13919410G>A	ENST00000265104.4	-	7	954	c.850C>T	c.(850-852)Cga>Tga	p.R284*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	284	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)	p.R284*(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)					AGCTCCGCTCGTGGCCCAACG	0.527									Kartagener syndrome																												p.R284X		.											DNAH5,NS,carcinoma,0,1	DNAH5	0	1	Substitution - Nonsense(1)	lung(1)	c.C850T						.						137	149	145					5																	13919410		2203	4300	6503	SO:0001587	stop_gained	1767	exon7	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CCGCTCGTGGCCC	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.850C>T	5.37:g.13919410G>A	ENSP00000265104:p.Arg284*	37	0		14	6	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	38	6.970119	0.97971	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.5	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.7594	0.57354	0.0:0.0:0.5864:0.4136	.	.	.	.	X	284	.	ENSP00000265104:R284X	R	-	1	2	DNAH5	13972410	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	4.538000	0.60650	0.643000	0.30638	0.491000	0.48974	CGA	.		0.527	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13919410	G	A	13919410	4	1	21	1	0	0	0	0	0	1	0	0	4618	1153	40	1	13316	1	DNAH5	5	13919410	Nonsense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		13919410	166995850	26	2835											
PLCXD3	345557	ucsc.edu;bcgsc.ca	37	5	41510580	41510580	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:41510580C>T	ENST00000377801.3	-	1	123	c.49G>A	c.(49-51)Gca>Aca	p.A17T	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A17T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	17					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						GGCAGAGTTGCCATCCAGTCG	0.657																																					p.A17T													.	PLCXD3	86	0			c.G49A						.						52	44	47					5																	41510580		2203	4300	6503	SO:0001583	missense	345557	exon1			GAGTTGCCATCCA		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.49G>A	5.37:g.41510580C>T	ENSP00000367032:p.Ala17Thr	29	0		24	4	NM_001005473	A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218482	0.39201	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	4.57	4.57	0.56435	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.179111	0.48286	D	0.000185	T	0.47673	0.1458	L	0.28274	0.84	0.48185	D	0.999603	B	0.11235	0.004	B	0.04013	0.001	T	0.40156	-0.9578	9	0.11794	T	0.64	-5.1155	16.2935	0.82761	0.0:1.0:0.0:0.0	.	17	Q63HM9	PLCX3_HUMAN	T	17	.	ENSP00000333751:A17T	A	-	1	0	PLCXD3	41546337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.686000	0.54685	2.387000	0.81309	0.555000	0.69702	GCA	.		0.657	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		T	41510580	C	T	41510580	3	4	21	1	0	0	0	0	1	0	0	0	12082	739	26	3	928	3	PLCXD3	5	41510580	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	27591170	41510580	139404680	27	2836											
SEMA6A	57556	broad.mit.edu;bcgsc.ca	37	5	115782915	115782915	+	Silent	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:115782915G>A	ENST00000343348.6	-	19	3274	c.2487C>T	c.(2485-2487)taC>taT	p.Y829Y	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.Y208Y|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.Y829Y|SEMA6A_ENST00000513137.1_Silent_p.Y256Y|SEMA6A_ENST00000282394.6_Silent_p.Y306Y|SEMA6A_ENST00000257414.8_Silent_p.Y846Y	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	829					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)		GCTGGTCCACGTACTCATGCT	0.632																																					p.Y829Y													.	SEMA6A	93	0			c.C2487T						.						132	133	133					5																	115782915		2082	4215	6297	SO:0001819	synonymous_variant	57556	exon19			GTCCACGTACTCA	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.2487C>T	5.37:g.115782915G>A		22	0		19	3	NM_020796	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	2.265	-0.368319	0.05069	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.0	-2.32	0.06745	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55598	-0.8116	4	.	.	.	.	11.9736	0.53078	0.6061:0.0:0.3939:0.0	.	.	.	.	M	344	.	.	T	-	2	0	SEMA6A	115810814	0.973000	0.33851	0.986000	0.45419	0.867000	0.49689	0.163000	0.16520	-0.472000	0.06881	-1.298000	0.01336	ACG	.		0.632	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		A	115782915	G	A	115782915	2	1	21	1	0	0	0	0	0	0	0	1	14084	1140	40	1		1	SEMA6A	5	115782915	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	74272335	115782915	65132345	28	2837											
PCDHA5	56143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140202795	140202795	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:140202795C>T	ENST00000529859.1	+	1	1435	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R479W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R479W|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	479	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)|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)			GGTGTCTGCACGGGACGCGGA	0.662																																					p.R479W		.											.	.	.	0			c.C1435T						.						74	79	77					5																	140202795		2203	4300	6503	SO:0001583	missense	56143	exon1			TCTGCACGGGACG	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.1435C>T	5.37:g.140202795C>T	ENSP00000436557:p.Arg479Trp	99	0		90	17	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	1.786	-0.480692	0.04383	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52983	0.64;0.64;0.64	3.86	-1.6	0.08426	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30792	0.0776	L	0.39326	1.205	0.09310	N	1	B;B;B	0.22746	0.024;0.074;0.017	B;B;B	0.23275	0.045;0.009;0.008	T	0.24119	-1.0169	9	0.34782	T	0.22	.	1.5823	0.02637	0.1359:0.3272:0.1347:0.4021	.	479;479;479	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	W	479	ENSP00000433416:R479W;ENSP00000436557:R479W;ENSP00000367366:R479W	ENSP00000367366:R479W	R	+	1	2	PCDHA5	140182979	0.000000	0.05858	0.008000	0.14137	0.233000	0.25261	-3.722000	0.00383	-0.377000	0.07930	-0.677000	0.03784	CGG	.		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140202795	C	T	140202795	3	4	21	1	0	0	0	0	1	0	0	0	11566	527	19	1	1437	1	PCDHA5	5	140202795	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	24419880	140202795	40712465	29	2838											
ODZ2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	167674541	167674541	+	Silent	SNP	G	G	A	rs540072530|rs34968426		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:167674541G>A	ENST00000518659.1	+	27	6636	c.6597G>A	c.(6595-6597)acG>acA	p.T2199T	TENM2_ENST00000545108.1_Silent_p.T2198T|TENM2_ENST00000519204.1_Silent_p.T2078T|TENM2_ENST00000520394.1_Silent_p.T1960T|TENM2_ENST00000403607.2_Silent_p.T2023T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2199					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)										CCAATACCACGAAGTACACCT	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		19865	0		0	False		,,,				2504	0				p.T2190T		.											.	.	.	0			c.G6570A						.						84	82	82					5																	167674541		2057	4206	6263	SO:0001819	synonymous_variant	57451	exon27			TACCACGAAGTAC	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.6597G>A	5.37:g.167674541G>A		34	0		31	8	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				.		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167674541	G	A	167674541	2	1	21	1	0	0	0	0	0	0	0	1	10874	1045	37	1		1	ODZ2	5	167674541	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	27471746	167674541	13240719	30	2839											
IFNGR1	3459	hgsc.bcm.edu	37	6	137525607	137525607	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr6:137525607C>A	ENST00000367739.4	-	4	529	c.408G>T	c.(406-408)aaG>aaT	p.K136N	IFNGR1_ENST00000367735.2_Missense_Mutation_p.K126N|IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000543628.1_Missense_Mutation_p.K108N	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	136					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)	GCTTCTCCTCCTTTCTGATAT	0.388																																					p.K136N		.											IFNGR1,NS,carcinoma,0,1	IFNGR1	0	0			c.G408T						.						142	121	128					6																	137525607		2203	4300	6503	SO:0001583	missense	3459	exon4			CTCCTCCTTTCTG		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.408G>T	6.37:g.137525607C>A	ENSP00000356713:p.Lys136Asn	42	0		39	3	NM_000416	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703930	0.48412	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.51	-1.23	0.09465	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.836501	0.11157	N	0.593435	T	0.14056	0.0340	L	0.42245	1.32	0.09310	N	1	D;P;P	0.53462	0.96;0.823;0.845	B;P;B	0.44921	0.32;0.464;0.413	T	0.06935	-1.0799	10	0.45353	T	0.12	-2.4361	1.1023	0.01687	0.1499:0.3266:0.1464:0.3771	.	126;108;136	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	N	136;136;108;102;126;126	ENSP00000356713:K136N;ENSP00000443282:K108N;ENSP00000389249:K102N;ENSP00000356709:K126N;ENSP00000394230:K126N	ENSP00000356709:K126N	K	-	3	2	IFNGR1	137567300	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.074000	0.03427	-0.252000	0.09528	-0.126000	0.14955	AAG	.		0.388	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			A	137525607	C	A	137525607	3	1	21	1	0	0	0	0	1	0	0	0	7576	680	24	3	1077	3	IFNGR1	6	137525607	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09		137525607	33589460	31	2840											
C6orf70	55780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	170179308	170179308	+	Silent	SNP	G	G	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr6:170179308G>C	ENST00000366773.3	+	17	1803	c.1770G>C	c.(1768-1770)ctG>ctC	p.L590L	ERMARD_ENST00000366772.2_Silent_p.L543L|ERMARD_ENST00000392095.4_Silent_p.L464L|ERMARD_ENST00000588451.1_Silent_p.L454L|ERMARD_ENST00000418781.3_Silent_p.L517L	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	590					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L590L(1)									TGCTCAGCCTGATACTGTTAC	0.398																																					p.L590L		.											C6orf70,NS,carcinoma,0,1	C6orf70	0	1	Substitution - coding silent(1)	lung(1)	c.G1770C						.						217	177	191					6																	170179308		2203	4300	6503	SO:0001819	synonymous_variant	55780	exon17			CAGCCTGATACTG	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.1770G>C	6.37:g.170179308G>C		40	0		19	5	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	CCDS34576.1																																																																																			.		0.398	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		C	170179308	G	C	170179308	2	2	21	1	0	0	0	0	0	0	0	1	2377	1277	45	5		5	C6orf70	6	170179308	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	32653701	170179308	935759	32	2841											
STK31	56164	hgsc.bcm.edu	37	7	23826512	23826512	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:23826512C>T	ENST00000355870.3	+	20	2575	c.2456C>T	c.(2455-2457)gCt>gTt	p.A819V	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.A819V|STK31_ENST00000354639.3_Missense_Mutation_p.A796V|STK31_ENST00000428484.1_Missense_Mutation_p.A796V	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	819	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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						AACCTGAATGCTGTTCAAGCC	0.358																																					p.A819V		.											STK31,NS,carcinoma,0,1	STK31	0	0			c.C2456T						.						180	165	170					7																	23826512		2203	4300	6503	SO:0001583	missense	56164	exon20			TGAATGCTGTTCA	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.2456C>T	7.37:g.23826512C>T	ENSP00000348132:p.Ala819Val	57	0		49	2	NM_031414	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	7.064	0.566893	0.13560	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.74106	-0.81;2.1;-0.81;-0.81	5.28	2.49	0.30216	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.332630	0.30177	N	0.010233	T	0.62036	0.2395	L	0.38953	1.18	0.09310	N	0.999991	B;B	0.24258	0.1;0.002	B;B	0.26094	0.066;0.009	T	0.52961	-0.8505	10	0.40728	T	0.16	-1.3412	8.6047	0.33767	0.0:0.6857:0.0:0.3143	.	819;819	B4DZ06;Q9BXU1	.;STK31_HUMAN	V	819;819;796;796	ENSP00000348132:A819V;ENSP00000411852:A819V;ENSP00000346660:A796V;ENSP00000406146:A796V	ENSP00000346660:A796V	A	+	2	0	STK31	23793037	0.842000	0.29525	0.203000	0.23512	0.074000	0.17049	1.479000	0.35453	0.622000	0.30249	0.585000	0.79938	GCT	.		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23826512	C	T	23826512	3	4	21	1	0	0	0	0	1	0	0	0	15343	797	28	3	2534	3	STK31	7	23826512	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09		23826512	135312151	33	2842											
FZD1	8321	hgsc.bcm.edu	37	7	90896134	90896134	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:90896134G>T	ENST00000287934.2	+	1	2352	c.1939G>T	c.(1939-1941)Gtc>Ttc	p.V647F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	647					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)			GGAGACTACAGTCTGAGACCC	0.632																																					p.V647F		.											FZD1,bladder,carcinoma,-2,1	FZD1	-2	0			c.G1939T						.						40	43	42					7																	90896134		2202	4296	6498	SO:0001583	missense	8321	exon1			ACTACAGTCTGAG	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.1939G>T	7.37:g.90896134G>T	ENSP00000287934:p.Val647Phe	56	0		37	2	NM_003505	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672047	0.47781	.	.	ENSG00000157240	ENST00000287934	T	0.80566	-1.39	4.89	3.03	0.35002	.	0.185056	0.25546	N	0.029934	D	0.87849	0.6281	M	0.77616	2.38	0.52099	D	0.999941	D	0.89917	1.0	D	0.79784	0.993	D	0.87487	0.2424	10	0.87932	D	0	.	10.1329	0.42689	0.0721:0.0:0.7912:0.1367	.	647	Q9UP38	FZD1_HUMAN	F	647	ENSP00000287934:V647F	ENSP00000287934:V647F	V	+	1	0	FZD1	90734070	1.000000	0.71417	0.997000	0.53966	0.359000	0.29487	7.762000	0.85270	0.731000	0.32448	0.561000	0.74099	GTC	.		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		T	90896134	G	T	90896134	3	4	21	1	0	0	0	0	1	0	0	0	6152	1029	36	3	1941	3	FZD1	7	90896134	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	67069622	90896134	68242529	34	2843											
DLX5	1749	hgsc.bcm.edu	37	7	96653802	96653802	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:96653802G>T	ENST00000222598.4	-	1	607	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	DLX5_ENST00000486603.2_Missense_Mutation_p.S45Y|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	45					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|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)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	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)					GTAGTAGTCAGAATCGGTAGC	0.577																																					p.S45Y		.											DLX5,colon,carcinoma,0,1	DLX5	0	0			c.C134A						.						51	56	55					7																	96653802		2203	4300	6503	SO:0001583	missense	1749	exon1			TAGTCAGAATCGG		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"Homeoboxes / ANTP class : NKL subclass"	2918	protein-coding gene	gene with protein product		600028	"distal-less homeo box 5"			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.134C>A	7.37:g.96653802G>T	ENSP00000222598:p.Ser45Tyr	56	0		43	2	NM_005221	B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062261	0.76187	.	.	ENSG00000105880	ENST00000222598	D	0.90444	-2.67	4.97	4.97	0.65823	.	0.112205	0.64402	D	0.000006	D	0.95033	0.8392	M	0.82823	2.61	0.58432	D	0.999996	P;D	0.57571	0.704;0.98	P;D	0.69479	0.746;0.964	D	0.93119	0.6523	10	0.19147	T	0.46	-4.4275	18.4442	0.90678	0.0:0.0:1.0:0.0	.	45;45	B7Z4P3;P56178	.;DLX5_HUMAN	Y	45	ENSP00000222598:S45Y	ENSP00000222598:S45Y	S	-	2	0	DLX5	96491738	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.726000	0.84824	2.583000	0.87209	0.561000	0.74099	TCT	.		0.577	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			T	96653802	G	T	96653802	3	4	21	1	0	0	0	0	1	0	0	0	4588	942	33	3	747	3	DLX5	7	96653802	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	5757668	96653802	62484861	35	2844											
DENND2A	27147	hgsc.bcm.edu	37	7	140246698	140246698	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:140246698G>T	ENST00000275884.6	-	12	2496	c.2079C>A	c.(2077-2079)gcC>gcA	p.A693A	DENND2A_ENST00000492720.1_Silent_p.A693A|DENND2A_ENST00000496613.1_Silent_p.A693A|DENND2A_ENST00000537639.1_Silent_p.A693A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	693	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)					GCTGAACCAGGGCAGGAGAGA	0.527																																					p.A693A		.											DENND2A,right_upper_lobe,carcinoma,0,1	DENND2A	0	0			c.C2079A						.						70	73	72					7																	140246698		1983	4178	6161	SO:0001819	synonymous_variant	27147	exon11			AACCAGGGCAGGA	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.2079C>A	7.37:g.140246698G>T		33	0		26	2	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																			.		0.527	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		T	140246698	G	T	140246698	2	4	21	1	0	0	0	0	0	0	0	1	4443	1219	43	3		3	DENND2A	7	140246698	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	43592896	140246698	18891965	36	2845											
ZYX	7791	hgsc.bcm.edu;broad.mit.edu	37	7	143079401	143079401	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:143079401G>A	ENST00000322764.5	+	3	614	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ZYX_ENST00000392910.2_5'UTR|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Missense_Mutation_p.G34E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	90					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GGTGCTCTGGGAGGTGCCTTC	0.672																																					p.G90E		.											.	.	.	0			c.G269A						.						27	29	28					7																	143079401		2203	4300	6503	SO:0001583	missense	7791	exon3			CTCTGGGAGGTGC	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.269G>A	7.37:g.143079401G>A	ENSP00000324422:p.Gly90Glu	35	0		26	4	NM_003461	A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048931	0.55110	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000354434;ENST00000449423	T;T;T;T	0.54866	0.55;0.56;0.55;0.65	3.69	3.69	0.42338	.	1.229020	0.06670	U	0.766001	T	0.42471	0.1204	M	0.64997	1.995	0.31951	N	0.609611	P;P	0.37330	0.59;0.59	B;B	0.27262	0.078;0.078	T	0.47341	-0.9125	10	0.14252	T	0.57	.	5.6812	0.17776	0.1934:0.0:0.8066:0.0	.	34;90	B4DQR8;Q15942	.;ZYX_HUMAN	E	90;59;90;89;34	ENSP00000324422:G90E;ENSP00000413467:G59E;ENSP00000346417:G89E;ENSP00000394158:G34E	ENSP00000324422:G90E	G	+	2	0	ZYX	142789523	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.970000	0.49240	1.887000	0.54652	0.561000	0.74099	GGA	.		0.672	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		A	143079401	G	A	143079401	3	1	21	1	0	0	0	0	1	0	0	0	18302	1174	41	3	275	3	ZYX	7	143079401	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	2832703	143079401	16059262	37	2846											
SSPO	168544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	149473162	149473162	+	5'Flank	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:149473162C>T	ENST00000302017.3	-	0	0				SSPO_ENST00000378016.2_RNA|ZNF467_ENST00000484747.1_5'Flank	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						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)			TTTGGGATGGCGTGGGCCCTG	0.652																																					p.A11V		.											.	.	.	0			c.C32T						.						29	33	32					7																	149473162		1989	4153	6142	SO:0001631	upstream_gene_variant	23145	exon1			GGATGGCGTGGGC	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		7.37:g.149473162C>T	Exception_encountered	31	0		26	4	NM_198455		Missense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			.		0.652	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		T	149473162	C	T	149473162	1	4	21	0	1	0	0	0	0	0	0	0	15236	768	27	1		1	SSPO	7	149473162	5'Flank	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	6393761	149473162	9665501	38	2847											
SLC7A2	6542	hgsc.bcm.edu	37	8	17401015	17401015	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:17401015C>T	ENST00000494857.1	+	3	385	c.167C>T	c.(166-168)gCt>gTt	p.A56V	SLC7A2_ENST00000398090.3_Missense_Mutation_p.A96V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A56V|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A96V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A96V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	56					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.A56D(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)	TATGTCCTCGCTGGGGAGGTG	0.587																																					p.A96V		.											SLC7A2,NS,carcinoma,0,1	SLC7A2	0	1	Substitution - Missense(1)	ovary(1)	c.C287T						.						65	54	57					8																	17401015		2203	4300	6503	SO:0001583	missense	6542	exon2			TCCTCGCTGGGGA	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.167C>T	8.37:g.17401015C>T	ENSP00000419140:p.Ala56Val	49	0		31	2	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417282	0.62622	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93835	0.8028	L	0.56340	1.77	0.80722	D	1	D;D;D	0.71674	0.984;0.998;0.975	P;P;D	0.63877	0.828;0.828;0.919	D	0.92904	0.6342	10	0.46703	T	0.11	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	96;96;56	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	V	56;56;96;96;96	ENSP00000419140:A56V;ENSP00000430464:A56V;ENSP00000419873:A96V;ENSP00000004531:A96V;ENSP00000381164:A96V	ENSP00000004531:A96V	A	+	2	0	SLC7A2	17445394	1.000000	0.71417	0.084000	0.20598	0.040000	0.13550	7.783000	0.85696	2.832000	0.97577	0.655000	0.94253	GCT	.		0.587	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		T	17401015	C	T	17401015	3	4	21	1	0	0	0	0	1	0	0	0	14742	797	28	3	293	3	SLC7A2	8	17401015	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09		17401015	128963007	39	2848											
TEX15	56154	hgsc.bcm.edu	37	8	30690813	30690813	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:30690813G>T	ENST00000256246.2	-	4	8433	c.8359C>A	c.(8359-8361)Cca>Aca	p.P2787T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2787					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)		CAGTGTCCTGGATGAAAGGAT	0.279																																					p.P2787T		.											.	.	.	0			c.C8359A						.						38	39	39					8																	30690813		2203	4296	6499	SO:0001583	missense	56154	exon4			GTCCTGGATGAAA	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.8359C>A	8.37:g.30690813G>T	ENSP00000256246:p.Pro2787Thr	130	0		72	3	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306089	0.10733	.	.	ENSG00000133863	ENST00000256246	T	0.10005	2.92	5.19	4.25	0.50352	.	0.531595	0.15983	N	0.235217	T	0.14960	0.0361	N	0.14661	0.345	0.09310	N	0.999993	D	0.65815	0.995	D	0.63877	0.919	T	0.07195	-1.0785	10	0.87932	D	0	.	10.508	0.44845	0.0:0.0:0.807:0.193	.	2787	Q9BXT5	TEX15_HUMAN	T	2787	ENSP00000256246:P2787T	ENSP00000256246:P2787T	P	-	1	0	TEX15	30810355	0.991000	0.36638	0.798000	0.32154	0.083000	0.17756	1.890000	0.39728	2.857000	0.98124	0.650000	0.86243	CCA	.		0.279	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30690813	G	T	30690813	3	4	21	1	0	0	0	0	1	0	0	0	15826	1174	41	3	14	3	TEX15	8	30690813	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	13289798	30690813	115673209	40	2849											
PI15	51050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	75737614	75737614	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:75737614C>A	ENST00000260113.2	+	2	309	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	PI15_ENST00000523773.1_Missense_Mutation_p.L44M|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	44						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)			TGAAGCAGCTCTGAAAGCACA	0.453																																					p.L44M		.											.	.	.	0			c.C130A						.						117	111	113					8																	75737614		2203	4300	6503	SO:0001583	missense	51050	exon2			GCAGCTCTGAAAG	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.130C>A	8.37:g.75737614C>A	ENSP00000260113:p.Leu44Met	38	0		31	8	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830306	0.32329	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09073	3.02;3.02	4.91	4.03	0.46877	.	0.266459	0.31897	N	0.006893	T	0.09291	0.0229	L	0.54323	1.7	0.35413	D	0.7926	P	0.48640	0.913	B	0.40741	0.339	T	0.19811	-1.0294	10	0.59425	D	0.04	.	8.391	0.32528	0.0:0.7776:0.0:0.2224	.	44	O43692	PI15_HUMAN	M	44	ENSP00000260113:L44M;ENSP00000428567:L44M	ENSP00000260113:L44M	L	+	1	2	PI15	75900169	0.986000	0.35501	0.948000	0.38648	0.989000	0.77384	0.921000	0.28718	1.443000	0.47586	-0.140000	0.14226	CTG	.		0.453	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		A	75737614	C	A	75737614	3	1	21	1	0	0	0	0	1	0	0	0	11907	912	32	3	132	3	PI15	8	75737614	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	45046801	75737614	70626408	41	2850											
CYP11B1	1584	hgsc.bcm.edu	37	8	143957206	143957206	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:143957206G>T	ENST00000292427.4	-	6	1075	c.1043C>A	c.(1042-1044)gCa>gAa	p.A348E	CYP11B1_ENST00000377675.3_Missense_Mutation_p.A419E|CYP11B1_ENST00000517471.1_Missense_Mutation_p.A348E	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	348			A -> T (in dbSNP:rs6407). {ECO:0000269|PubMed:10391209}.		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)	p.A348G(1)		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)	GATGCTGGCTGCGGCGGCCAG	0.652									Familial Hyperaldosteronism type I																												p.A348E		.											CYP11B1,NS,carcinoma,0,1	CYP11B1	0	1	Substitution - Missense(1)	lung(1)	c.C1043A						.						74	77	76					8																	143957206		2203	4300	6503	SO:0001583	missense	1584	exon6	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	CTGGCTGCGGCGG	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.1043C>A	8.37:g.143957206G>T	ENSP00000292427:p.Ala348Glu	53	0		33	2	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.332233	0.00227	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;T;T	0.73047	-0.71;-0.32;-0.32;-0.32	4.42	0.785	0.18584	.	1.163660	0.06509	N	0.737767	T	0.48519	0.1504	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.13594	0.0;0.0;0.001;0.001;0.008	B;B;B;B;B	0.19946	0.002;0.002;0.002;0.005;0.027	T	0.31280	-0.9949	10	0.25751	T	0.34	.	12.3348	0.55060	0.0:0.0:0.1834:0.8166	.	419;348;348;348;64	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	E	3;348;348;419	ENSP00000430144:A3E;ENSP00000292427:A348E;ENSP00000428043:A348E;ENSP00000366903:A419E	ENSP00000292427:A348E	A	-	2	0	CYP11B1	143954208	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.484000	0.22308	-0.040000	0.13580	-0.320000	0.08662	GCA	.		0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143957206	G	T	143957206	3	4	21	1	0	0	0	0	1	0	0	0	4154	1319	46	3	484	3	CYP11B1	8	143957206	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	68219592	143957206	2406816	42	2851											
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	13168539	13168539	+	Missense_Mutation	SNP	T	T	C	rs372981122		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:13168539T>C	ENST00000319217.7	-	22	3327	c.3080A>G	c.(3079-3081)gAt>gGt	p.D1027G	MPDZ_ENST00000381015.4_Missense_Mutation_p.D1027G|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1027G|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1027G|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1027G|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1027G|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1027G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1027	PDZ 6. {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)		CCCCAAGCCATCTTTATTAGC	0.353																																					p.D1027G		.											.	.	.	0			c.A3080G						.						179	169	172					9																	13168539		1889	4107	5996	SO:0001583	missense	8777	exon22			AAGCCATCTTTAT	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.3080A>G	9.37:g.13168539T>C	ENSP00000320006:p.Asp1027Gly	50	0		54	11	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	21.3	4.129893	0.77549	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.36	4.14	0.48551	.	0.000000	0.44902	D	0.000408	T	0.50343	0.1610	L	0.39898	1.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.96;0.96	T	0.36261	-0.9755	10	0.24483	T	0.36	.	11.4619	0.50215	0.1346:0.0:0.0:0.8654	.	1027;1027;1027	B7ZMI4;O75970-3;O75970-2	.;.;.	G	1027;1027;1027;33;1027;1027;1027;977;1027	ENSP00000320006:D1027G;ENSP00000439807:D1027G;ENSP00000370410:D1027G;ENSP00000444230:D33G;ENSP00000444151:D1027G;ENSP00000415208:D1027G;ENSP00000370403:D1027G;ENSP00000446358:D1027G	ENSP00000320006:D1027G	D	-	2	0	MPDZ	13158539	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.853000	0.69496	2.146000	0.66826	0.533000	0.62120	GAT	.		0.353	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13168539	T	C	13168539	3	2	21	1	0	0	0	0	1	0	0	0	9760	1435	50	4	3145	4	MPDZ	9	13168539	Missense_Mutation	SNP	T	TCGA-W5-AA33-01A-11D-A417-09		13168539	128044892	43	2852											
CD72	971	broad.mit.edu;bcgsc.ca	37	9	35615948	35615948	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:35615948C>T	ENST00000396757.1	-	6	844	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.G227D			P21854	CD72_HUMAN	CD72 molecule	227					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)			ACCTGCTGAGCCGCATGTGAA	0.557																																					p.G227D													.	CD72	20	0			c.G680A						.						128	110	116					9																	35615948		2203	4300	6503	SO:0001583	missense	971	exon5			GCTGAGCCGCATG		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.680G>A	9.37:g.35615948C>T	ENSP00000379980:p.Gly227Asp	19	0		13	3	NM_001782		Missense_Mutation	SNP	ENST00000396757.1	37	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.205588	0.01568	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.40756	1.02;1.02	4.68	0.646	0.17789	C-type lectin-like (1);	1.922620	0.02954	N	0.142159	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.20384	0.029;0.029	T	0.13335	-1.0513	10	0.09084	T	0.74	2.2332	3.5036	0.07683	0.0844:0.1494:0.4692:0.297	.	227;227	Q5TLG3;P21854	.;CD72_HUMAN	D	227	ENSP00000379980:G227D;ENSP00000259633:G227D	ENSP00000259633:G227D	G	-	2	0	CD72	35605948	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.184000	0.16939	-0.074000	0.12820	-1.478000	0.00992	GGC	.		0.557	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		T	35615948	C	T	35615948	3	4	21	1	0	0	0	0	1	0	0	0	3041	739	26	3	415	3	CD72	9	35615948	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	22447409	35615948	105597483	44	2853											
ECM2	1842	bcgsc.ca	37	9	95264897	95264897	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:95264897G>T	ENST00000344604.5	-	8	1651	c.1502C>A	c.(1501-1503)aCt>aAt	p.T501N	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.T479N	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	501					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						ACAAATTTCAGTTATTTCTTC	0.279																																					p.T501N													.	ECM2	147	0			c.C1502A						.						104	105	104					9																	95264897		2202	4299	6501	SO:0001583	missense	1842	exon8			ATTTCAGTTATTT	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.1502C>A	9.37:g.95264897G>T	ENSP00000344758:p.Thr501Asn	39	0		33	3	NM_001393	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206208	0.58343	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.57107	1.88;0.42	5.81	2.77	0.32553	.	0.412588	0.29900	N	0.010914	T	0.34745	0.0908	N	0.16833	0.445	0.31202	N	0.699638	B;P;P	0.45428	0.452;0.858;0.696	P;B;P	0.45794	0.493;0.424;0.454	T	0.27502	-1.0072	10	0.21014	T	0.42	.	6.2401	0.20785	0.0643:0.1182:0.573:0.2445	.	501;479;479	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	N	479;501	ENSP00000393971:T479N;ENSP00000344758:T501N	ENSP00000344758:T501N	T	-	2	0	ECM2	94304718	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.389000	0.59639	0.898000	0.36418	-0.187000	0.12897	ACT	.		0.279	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		T	95264897	G	T	95264897	3	4	21	1	0	0	0	0	1	0	0	0	4912	1029	36	3	609	3	ECM2	9	95264897	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	59648949	95264897	45948534	45	2854											
KIAA1958	158405	bcgsc.ca	37	9	115337025	115337025	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:115337025G>T	ENST00000337530.6	+	2	961	c.665G>T	c.(664-666)gGa>gTa	p.G222V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.G222V|KIAA1958_ENST00000374244.3_Missense_Mutation_p.G222V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	222										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTGACAGGAGGAGTAGATGGA	0.473																																					p.G222V													.	KIAA1958	52	0			c.G665T						.						117	105	109					9																	115337025		2203	4300	6503	SO:0001583	missense	158405	exon2			CAGGAGGAGTAGA	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.665G>T	9.37:g.115337025G>T	ENSP00000336940:p.Gly222Val	22	0		14	3	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335410	0.60853	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.41065	1.01;1.01;1.01	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.52933	0.1765	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.982;0.998	T	0.49163	-0.8968	10	0.38643	T	0.18	-11.5346	20.6439	0.99570	0.0:0.0:1.0:0.0	.	222;222	B7ZKW6;Q8N8K9	.;K1958_HUMAN	V	222	ENSP00000336940:G222V;ENSP00000363362:G222V;ENSP00000440504:G222V	ENSP00000336940:G222V	G	+	2	0	KIAA1958	114376846	1.000000	0.71417	0.991000	0.47740	0.788000	0.44548	5.404000	0.66344	2.884000	0.98904	0.655000	0.94253	GGA	.		0.473	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		T	115337025	G	T	115337025	3	4	21	1	0	0	0	0	1	0	0	0	8291	1174	41	3	667	3	KIAA1958	9	115337025	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	20072128	115337025	25876406	46	2855											
HPSE2	60495	hgsc.bcm.edu	37	10	100481428	100481428	+	Silent	SNP	G	G	A	rs142810016		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr10:100481428G>A	ENST00000370552.3	-	5	1001	c.942C>T	c.(940-942)atC>atT	p.I314I	HPSE2_ENST00000404542.1_Silent_p.I202I|HPSE2_ENST00000370549.1_Silent_p.I256I|HPSE2_ENST00000370546.1_Silent_p.I314I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	314					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)	p.I314I(2)		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)		CTAGGAGGGCGATGACATTCT	0.398																																					p.I314I		.											HPSE2_ENST00000370546,NS,carcinoma,0,1	HPSE2_ENST00000370546	0	2	Substitution - coding silent(2)	kidney(2)	c.C942T						.						53	52	52					10																	100481428		2203	4300	6503	SO:0001819	synonymous_variant	60495	exon5			GAGGGCGATGACA	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.942C>T	10.37:g.100481428G>A		78	0		57	4	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	CCDS7477.1																																																																																			.		0.398	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		A	100481428	G	A	100481428	2	1	21	1	0	0	0	0	0	0	0	1	7372	1048	37	1		1	HPSE2	10	100481428	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		100481428	35053319	47	2856											
TRUB1	142940	hgsc.bcm.edu	37	10	116702491	116702491	+	Missense_Mutation	SNP	G	G	T	rs143607039		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr10:116702491G>T	ENST00000298746.3	+	2	435	c.374G>T	c.(373-375)cGa>cTa	p.R125L	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	125					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R125Q(3)		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)		AGCGCAGCCCGAGGAGTTCTG	0.438																																					p.R125L		.											TRUB1,bladder,carcinoma,0,3	TRUB1	0	3	Substitution - Missense(3)	urinary_tract(1)|large_intestine(1)|breast(1)	c.G374T						.						62	63	63					10																	116702491		2203	4300	6503	SO:0001583	missense	142940	exon2			CAGCCCGAGGAGT	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.374G>T	10.37:g.116702491G>T	ENSP00000298746:p.Arg125Leu	49	0		38	2	NM_139169	B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530267	0.45073	.	.	ENSG00000165832	ENST00000298746	T	0.13778	2.56	6.07	-1.76	0.08006	Pseudouridine synthase, catalytic domain (1);	0.780271	0.11522	N	0.555625	T	0.11281	0.0275	L	0.27053	0.805	0.24930	N	0.991927	B	0.23591	0.088	B	0.37015	0.239	T	0.44802	-0.9304	10	0.59425	D	0.04	0.0275	6.6592	0.23004	0.5867:0.1744:0.2389:0.0	.	125	Q8WWH5	TRUB1_HUMAN	L	125	ENSP00000298746:R125L	ENSP00000298746:R125L	R	+	2	0	TRUB1	116692481	0.298000	0.24417	0.990000	0.47175	0.994000	0.84299	0.618000	0.24373	-0.226000	0.09899	-0.136000	0.14681	CGA	.		0.438	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		T	116702491	G	T	116702491	3	4	21	1	0	0	0	0	1	0	0	0	16650	1058	37	2	380	2	TRUB1	10	116702491	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	16221063	116702491	18832256	48	2857											
TPP1	1200	bcgsc.ca	37	11	6638859	6638859	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:6638859G>T	ENST00000299427.6	-	4	438	c.378C>A	c.(376-378)atC>atA	p.I126I	TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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)	CCTCTCACCGGATGCTCAGCC	0.567																																					p.I126I													.	TPP1	71	0			c.C378A						.						121	112	115					11																	6638859		2201	4296	6497	SO:0001819	synonymous_variant	1200	exon4			TCACCGGATGCTC	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.378C>A	11.37:g.6638859G>T		18	0		13	3	NM_000391	Q71V64	Silent	SNP	ENST00000299427.6	37	CCDS7770.1																																																																																			.		0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			T	6638859	G	T	6638859	2	4	21	1	0	0	0	0	0	0	0	1	16459	1164	41	3		3	TPP1	11	6638859	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		6638859	128367657	49	2858											
CTR9	9646	hgsc.bcm.edu	37	11	10794117	10794117	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:10794117G>T	ENST00000361367.2	+	20	2921	c.2495G>T	c.(2494-2496)cGc>cTc	p.R832L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	832					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)		GCCCGGGCACGCAAACAAGAT	0.443																																					p.R832L		.											CTR9,NS,carcinoma,0,1	CTR9	0	0			c.G2495T						.						60	62	61					11																	10794117		2201	4294	6495	SO:0001583	missense	9646	exon20			GGGCACGCAAACA	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.2495G>T	11.37:g.10794117G>T	ENSP00000355013:p.Arg832Leu	52	0		37	2	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520778	0.96416	.	.	ENSG00000198730	ENST00000361367	T	0.50277	0.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.83852	2.665	0.80722	D	1	B	0.32604	0.377	B	0.23419	0.046	T	0.59096	-0.7518	10	0.56958	D	0.05	-11.309	19.9317	0.97122	0.0:0.0:1.0:0.0	.	832	Q6PD62	CTR9_HUMAN	L	832	ENSP00000355013:R832L	ENSP00000355013:R832L	R	+	2	0	CTR9	10750693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.716000	0.92895	0.591000	0.81541	CGC	.		0.443	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		T	10794117	G	T	10794117	3	4	21	1	0	0	0	0	1	0	0	0	4033	1087	38	2	2573	2	CTR9	11	10794117	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	4155258	10794117	124212399	50	2859											
SOX6	55553	hgsc.bcm.edu	37	11	16208345	16208345	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:16208345C>A	ENST00000352083.6	-	5	769	c.692G>T	c.(691-693)cGc>cTc	p.R231L	SOX6_ENST00000527619.1_Missense_Mutation_p.R234L|SOX6_ENST00000528252.1_Missense_Mutation_p.R231L|SOX6_ENST00000396356.3_Missense_Mutation_p.R231L|SOX6_ENST00000316399.6_Missense_Mutation_p.R231L|SOX6_ENST00000528429.1_Missense_Mutation_p.R231L			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	231	Gln-rich.				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)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTGCTGTTGGCGAGCAAGGTC	0.483																																					p.R244L		.											SOX6_ENST00000527619,NS,malignant_melanoma,0,2	SOX6_ENST00000527619	0	0			c.G731T						.						184	173	177					11																	16208345		2200	4294	6494	SO:0001583	missense	55553	exon5			TGTTGGCGAGCAA	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.692G>T	11.37:g.16208345C>A	ENSP00000339876:p.Arg231Leu	31	0		29	2	NM_001145819	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.593893	0.86953	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98876	-5.19;-5.16;-5.19;-5.2;-5.2;-5.16	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.978;0.997	D;P;D	0.91635	0.999;0.754;0.986	D	0.99709	1.1006	10	0.52906	T	0.07	.	19.8956	0.96956	0.0:1.0:0.0:0.0	.	231;231;234	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	L	231;231;231;231;234;231	ENSP00000324948:R231L;ENSP00000339876:R231L;ENSP00000379644:R231L;ENSP00000432134:R231L;ENSP00000434455:R234L;ENSP00000433233:R231L	ENSP00000324948:R231L	R	-	2	0	SOX6	16164921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.708000	0.92522	0.563000	0.77884	CGC	.		0.483	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		A	16208345	C	A	16208345	3	1	21	1	0	0	0	0	1	0	0	0	15000	768	27	2	1884	2	SOX6	11	16208345	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	5414228	16208345	118798171	51	2860											
NAV2	89797	ucsc.edu	37	11	19970265	19970265	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:19970265G>T	ENST00000396087.3	+	11	2452	c.2353G>T	c.(2353-2355)Gtc>Ttc	p.V785F	NAV2_ENST00000540292.1_Missense_Mutation_p.V716F|NAV2_ENST00000527559.2_Missense_Mutation_p.V714F|NAV2_ENST00000349880.4_Missense_Mutation_p.V762F|NAV2_ENST00000396085.1_Missense_Mutation_p.V762F|NAV2_ENST00000360655.4_Missense_Mutation_p.V698F	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	785					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						TGACACCAATGTCACCACGGA	0.493																																					p.V785F													.	NAV2	255	0			c.G2353T						.						74	67	69					11																	19970265		2199	4293	6492	SO:0001583	missense	89797	exon11			ACCAATGTCACCA	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.2353G>T	11.37:g.19970265G>T	ENSP00000379396:p.Val785Phe	46	0		39	4	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	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019850	0.54576	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.42	3.57	0.40892	.	0.106319	0.41294	D	0.000915	T	0.32734	0.0839	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.74674	0.984;0.931	T	0.01269	-1.1400	9	.	.	.	.	12.3522	0.55155	0.1378:0.0:0.8622:0.0	.	762;698	Q8IVL1-3;Q8IVL1-4	.;.	F	698;762;762;785;714;716	ENSP00000353871:V698F;ENSP00000379394:V762F;ENSP00000309577:V762F;ENSP00000379396:V785F;ENSP00000435395:V714F;ENSP00000443489:V716F	.	V	+	1	0	NAV2	19926841	1.000000	0.71417	0.880000	0.34516	0.418000	0.31294	4.549000	0.60726	0.789000	0.33779	-0.222000	0.12452	GTC	.		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	19970265	G	T	19970265	3	4	21	1	0	0	0	0	1	0	0	0	10222	1377	48	3	2401	3	NAV2	11	19970265	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	3761920	19970265	115036251	52	2861											
FAM111B	374393	hgsc.bcm.edu	37	11	58891964	58891964	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:58891964T>A	ENST00000343597.3	+	4	585	c.394T>A	c.(394-396)Tat>Aat	p.Y132N	FAM111B_ENST00000529618.1_Missense_Mutation_p.Y102N|FAM111B_ENST00000411426.1_Missense_Mutation_p.Y102N	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	132							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						CATTATTGTTTATGAAGAAAA	0.343																																					p.Y132N		.											.,2	.	84	0			c.T394A						.						49	50	50					11																	58891964		2201	4294	6495	SO:0001583	missense	374393	exon4			ATTGTTTATGAAG	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.394T>A	11.37:g.58891964T>A	ENSP00000341565:p.Tyr132Asn	45	1		48	2	NM_198947	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607533	0.28623	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000534403;ENST00000343597	T;T;T	0.33654	1.4;1.4;1.4	4.15	0.286	0.15710	.	0.674579	0.12305	U	0.480758	T	0.25494	0.0620	L	0.57536	1.79	0.09310	N	1	P	0.46512	0.879	B	0.38500	0.275	T	0.14227	-1.0480	10	0.29301	T	0.29	.	1.8022	0.03073	0.1655:0.0949:0.172:0.5675	.	132	Q6SJ93	F111B_HUMAN	N	102;102;102;132	ENSP00000393855:Y102N;ENSP00000432875:Y102N;ENSP00000341565:Y132N	ENSP00000341565:Y132N	Y	+	1	0	FAM111B	58648540	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.094000	0.15107	-0.049000	0.13379	0.533000	0.62120	TAT	.		0.343	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		A	58891964	T	A	58891964	3	1	21	1	0	0	0	0	1	0	0	0	5419	1754	61	5	400	5	FAM111B	11	58891964	Missense_Mutation	SNP	T	TCGA-W5-AA33-01A-11D-A417-09	38921699	58891964	76114552	53	2862											
C11orf52	91894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	111796803	111796803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:111796803C>A	ENST00000278601.5	+	4	348	c.252C>A	c.(250-252)tgC>tgA	p.C84*	HSPB2-C11orf52_ENST00000534100.1_3'UTR|RNA5SP351_ENST00000459480.1_RNA|DIXDC1_ENST00000529225.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR|CRYAB_ENST00000527950.1_5'Flank	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	84						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TTCAAGTGTGCAGCCGTCCCC	0.527																																					p.C84X		.											.	.	.	0			c.C252A						.						121	89	100					11																	111796803		2201	4297	6498	SO:0001587	stop_gained	91894	exon4			AGTGTGCAGCCGT	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.252C>A	11.37:g.111796803C>A	ENSP00000278601:p.Cys84*	25	0		25	5	NM_080659		Nonsense_Mutation	SNP	ENST00000278601.5	37	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219535	0.58560	.	.	ENSG00000149300	ENST00000278601	.	.	.	4.72	4.72	0.59763	.	1.051630	0.07409	N	0.892119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	0.2091	14.5173	0.67827	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000278601:C84X	C	+	3	2	C11orf52	111302013	0.996000	0.38824	0.307000	0.25127	0.648000	0.38561	4.034000	0.57289	2.449000	0.82847	0.561000	0.74099	TGC	.		0.527	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		A	111796803	C	A	111796803	4	1	21	1	0	0	0	0	0	1	0	0	1652	718	25	3	266	3	C11orf52	11	111796803	Nonsense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	52904839	111796803	23209713	54	2863											
DSCAML1	57453	broad.mit.edu;ucsc.edu	37	11	117375684	117375684	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:117375684C>T	ENST00000321322.6	-	10	2318	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V503M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	713	Ig-like C2-type 8.				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)		TAGCCGTCCACCGAGCAGTTG	0.597																																					p.V773M													.	DSCAML1	286	0			c.G2317A						.						89	78	82					11																	117375684		2201	4296	6497	SO:0001583	missense	57453	exon10			CGTCCACCGAGCA		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.2317G>A	11.37:g.117375684C>T	ENSP00000315465:p.Val773Met	15	0		22	5	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383691	0.82792	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.75154	-0.91;-0.91	4.32	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83801	0.5333	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	D	0.86390	0.1735	9	0.87932	D	0	.	16.5931	0.84781	0.0:1.0:0.0:0.0	.	713	Q8TD84	DSCL1_HUMAN	M	503;773;480	ENSP00000434335:V503M;ENSP00000315465:V773M	ENSP00000315465:V773M	V	-	1	0	DSCAML1	116880894	1.000000	0.71417	0.949000	0.38748	0.893000	0.52053	7.559000	0.82265	2.222000	0.72286	0.313000	0.20887	GTG	.		0.597	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117375684	C	T	117375684	3	4	21	1	0	0	0	0	1	0	0	0	4783	507	18	3	4120	3	DSCAML1	11	117375684	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	5578881	117375684	17630832	55	2864											
ATN1	1822	broad.mit.edu	37	12	7045653	7045653	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr12:7045653A>C	ENST00000356654.4	+	5	1460	c.1223A>C	c.(1222-1224)tAc>tCc	p.Y408S	ATN1_ENST00000396684.2_Missense_Mutation_p.Y408S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	408					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						TTGCCCAGCTACCCCCACTCT	0.577																																					p.Y408S													.	ATN1	95	0			c.A1223C						.						76	63	68					12																	7045653		2203	4300	6503	SO:0001583	missense	1822	exon5			CCAGCTACCCCCA	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.1223A>C	12.37:g.7045653A>C	ENSP00000349076:p.Tyr408Ser	45	2		38	7	NM_001007026	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.343103	0.01277	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.52754	0.65;0.65;0.65	3.73	2.57	0.30868	.	0.000000	0.31167	U	0.008136	T	0.45418	0.1341	L	0.40543	1.245	0.42886	D	0.994185	D;P	0.53619	0.961;0.948	P;P	0.54759	0.76;0.665	T	0.26710	-1.0095	10	0.19590	T	0.45	.	8.505	0.33181	0.9048:0.0:0.0952:0.0	.	408;408	Q86V38;P54259	.;ATN1_HUMAN	S	408	ENSP00000349076:Y408S;ENSP00000379915:Y408S;ENSP00000441744:Y408S	ENSP00000349076:Y408S	Y	+	2	0	ATN1	6915914	0.004000	0.15560	0.987000	0.45799	0.024000	0.10985	1.045000	0.30341	1.468000	0.48064	0.478000	0.44815	TAC	.		0.577	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		C	7045653	A	C	7045653	3	2	21	1	0	0	0	0	1	0	0	0	1112	391	14	4	1237	4	ATN1	12	7045653	Missense_Mutation	SNP	A	TCGA-W5-AA33-01A-11D-A417-09		7045653	126806242	56	2865											
MFAP5	8076	hgsc.bcm.edu	37	12	8814663	8814663	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr12:8814663G>T	ENST00000359478.2	-	2	225	c.38C>A	c.(37-39)gCt>gAt	p.A13D	MFAP5_ENST00000540087.1_Missense_Mutation_p.A13D|RP11-20D14.3_ENST00000539089.1_RNA|RP11-20D14.3_ENST00000544922.1_RNA|MFAP5_ENST00000433590.2_Missense_Mutation_p.A13D|MFAP5_ENST00000396549.2_Missense_Mutation_p.A13D|MFAP5_ENST00000543369.1_Missense_Mutation_p.A13D|MFAP5_ENST00000535336.1_Missense_Mutation_p.A13D|MFAP5_ENST00000538107.1_5'UTR	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	13					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GATGAATGCAGCAAGAAACAG	0.502																																					p.A13D		.											MFAP5,NS,adenoma,0,1	MFAP5	0	0			c.C38A						.						132	116	121					12																	8814663		2203	4300	6503	SO:0001583	missense	8076	exon2			AATGCAGCAAGAA	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.38C>A	12.37:g.8814663G>T	ENSP00000352455:p.Ala13Asp	33	0		31	2	NM_003480	B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.450|9.450	1.090291|1.090291	0.20390|0.20390	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087;ENST00000544889|ENST00000535411	.|.	.|.	.|.	4.79|4.79	2.93|2.93	0.34026|0.34026	.|.	0.728143|.	0.12780|.	N|.	0.439727|.	T|T	0.24236|0.24236	0.0587|0.0587	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B|.	0.32010|.	0.351;0.351;0.351|.	B;B;B|.	0.37015|.	0.122;0.239;0.187|.	T|T	0.16689|0.16689	-1.0394|-1.0394	9|5	0.66056|.	D|.	0.02|.	-0.0188|-0.0188	6.0422|6.0422	0.19740|0.19740	0.2293:0.0:0.7707:0.0|0.2293:0.0:0.7707:0.0	.|.	13;13;13|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	D|M	13|3	.|.	ENSP00000352455:A13D|.	A|L	-|-	2|1	0|2	MFAP5|MFAP5	8705930|8705930	0.019000|0.019000	0.18553|0.18553	0.002000|0.002000	0.10522|0.10522	0.164000|0.164000	0.22412|0.22412	1.320000|1.320000	0.33666|0.33666	1.342000|1.342000	0.45619|0.45619	0.591000|0.591000	0.81541|0.81541	GCT|CTG	.		0.502	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		T	8814663	G	T	8814663	3	4	21	1	0	0	0	0	1	0	0	0	9556	971	34	3	519	3	MFAP5	12	8814663	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	1769010	8814663	125037232	57	2866											
OR4M1	441670	hgsc.bcm.edu	37	14	20248958	20248958	+	Missense_Mutation	SNP	G	G	T	rs373976062		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:20248958G>T	ENST00000315957.4	+	1	558	c.477G>T	c.(475-477)caG>caT	p.Q159H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, 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.Q159H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATAATACAGGTGGCTCTCA	0.507																																					p.Q159H		.											OR4M1,NS,carcinoma,0,1	OR4M1	0	1	Substitution - Missense(1)	lung(1)	c.G477T						.						249	258	255					14																	20248958		2203	4300	6503	SO:0001583	missense	441670	exon1			AATACAGGTGGCT		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.477G>T	14.37:g.20248958G>T	ENSP00000319654:p.Gln159His	95	0		60	3	NM_001005500	B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.56	2.573341	0.45902	.	.	ENSG00000176299	ENST00000315957	T	0.00019	9.06	4.43	-0.843	0.10744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000262	T	0.00109	0.0003	L	0.33710	1.025	0.30043	N	0.812465	B	0.21071	0.051	B	0.30251	0.113	T	0.19910	-1.0291	10	0.62326	D	0.03	-7.1773	5.1162	0.14834	0.4893:0.1542:0.3565:0.0	.	159	Q8NGD0	OR4M1_HUMAN	H	159	ENSP00000319654:Q159H	ENSP00000319654:Q159H	Q	+	3	2	OR4M1	19318798	0.000000	0.05858	0.992000	0.48379	0.973000	0.67179	-0.455000	0.06762	-0.268000	0.09312	-0.360000	0.07572	CAG	.		0.507	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			T	20248958	G	T	20248958	3	4	21	1	0	0	0	0	1	0	0	0	11114	991	35	3	479	3	OR4M1	14	20248958	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		20248958	87100582	58	2867											
CMA1	1215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24974805	24974805	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:24974805G>A	ENST00000250378.3	-	5	690	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.R110W	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	221	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)		GCATCCGACCGTCCATAGGAT	0.592																																					p.R221W		.											.	.	.	0			c.C661T						.						77	76	76					14																	24974805		2203	4300	6503	SO:0001583	missense	1215	exon5			CCGACCGTCCATA		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.661C>T	14.37:g.24974805G>A	ENSP00000250378:p.Arg221Trp	23	0		29	7	NM_001836	B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378488	0.42207	.	.	ENSG00000092009	ENST00000250378;ENST00000206446	D;D	0.89123	-2.47;-2.47	5.38	1.02	0.19986	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.700130	0.01047	N	0.004417	D	0.90448	0.7009	L	0.39467	1.215	0.09310	N	1	D	0.76494	0.999	P	0.54431	0.752	T	0.78239	-0.2281	10	0.46703	T	0.11	.	12.6318	0.56661	0.0:0.0:0.4459:0.5541	.	221	P23946	CMA1_HUMAN	W	221;110	ENSP00000250378:R221W;ENSP00000206446:R110W	ENSP00000206446:R110W	R	-	1	2	CMA1	24044645	0.001000	0.12720	0.000000	0.03702	0.395000	0.30598	-0.140000	0.10342	0.000000	0.14550	0.655000	0.94253	CGG	.		0.592	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			A	24974805	G	A	24974805	3	1	21	1	0	0	0	0	1	0	0	0	3581	1144	40	1	86	1	CMA1	14	24974805	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	4725847	24974805	82374735	59	2868											
C14orf104	55172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	50092315	50092315	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:50092315T>G	ENST00000298292.8	-	3	2539	c.2459A>C	c.(2458-2460)cAt>cCt	p.H820P	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Missense_Mutation_p.H772P	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	820					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						ATTGGTCACATGATCTTTAAT	0.313																																					p.H820P		.											.	.	.	0			c.A2459C						.						134	124	127					14																	50092315		2202	4300	6502	SO:0001583	missense	55172	exon3			GTCACATGATCTT	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.2459A>C	14.37:g.50092315T>G	ENSP00000298292:p.His820Pro	77	0		84	14	NM_018139	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422446	0.62622	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15952	2.38;2.38	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.68952	2.095	0.48236	D	0.999614	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.26121	-1.0112	10	0.87932	D	0	.	15.3571	0.74434	0.0:0.0:0.0:1.0	.	772;820	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	P	820;772	ENSP00000298292:H820P;ENSP00000384862:H772P	ENSP00000298292:H820P	H	-	2	0	DNAAF2	49162065	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	5.549000	0.67261	2.265000	0.75225	0.451000	0.29950	CAT	.		0.313	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			G	50092315	T	G	50092315	3	3	21	1	0	0	0	0	1	0	0	0	1741	1464	51	4	58	4	C14orf104	14	50092315	Missense_Mutation	SNP	T	TCGA-W5-AA33-01A-11D-A417-09	25117510	50092315	57257225	60	2869											
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619480	+	Missense_Mutation	SNP	T	T	C	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:53619480T>C	ENST00000323669.5	-	1	336	c.337A>G	c.(337-339)Agc>Ggc	p.S113G	DDHD1_ENST00000395606.1_Missense_Mutation_p.S113G|RP11-547D23.1_ENST00000554235.1_RNA|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.S113G	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	113					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCG	0.701																																					p.S113G		.											.,102	.	202	0			c.A337G						.						6	8	7					14																	53619480		1971	3847	5818	SO:0001583	missense	80821	exon1			AGGAGCTGCCGCC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.337A>G	14.37:g.53619480T>C	ENSP00000327104:p.Ser113Gly	11	2		10	0	NM_001160147	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006520	0.54361	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.77	2.61	0.31194	.	0.746995	0.12231	N	0.487421	T	0.35566	0.0936	N	0.22421	0.69	0.20975	N	0.999816	P;B;P	0.52577	0.954;0.0;0.954	D;B;D	0.66351	0.916;0.0;0.943	T	0.17167	-1.0378	9	0.18276	T	0.48	-5.0646	3.2899	0.06945	0.0:0.2878:0.2128:0.4994	.	113;113;113	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	G	113	.	ENSP00000327104:S113G	S	-	1	0	DDHD1	52689230	.	.	0.767000	0.31495	0.958000	0.62258	.	.	0.510000	0.28216	0.374000	0.22700	AGC	.		0.701	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			C	53619480	T	C	53619480	3	2	21	1	0	0	0	0	1	0	0	0	4335	1580	55	4	2442	4	DDHD1	14	53619480	Missense_Mutation	SNP	T	TCGA-W5-AA33-01A-11D-A417-09	3527165	53619480	53730060	61	2870											
SLC38A6	145389	ucsc.edu;bcgsc.ca	37	14	61504396	61504396	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:61504396C>A	ENST00000267488.4	+	8	735	c.619C>A	c.(619-621)Ctt>Att	p.L207I	SLC38A6_ENST00000354886.2_Missense_Mutation_p.L207I|SLC38A6_ENST00000456840.2_Missense_Mutation_p.L184I	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	207					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)		GTTCTTTGCTCTTGTGGTAAG	0.294																																					p.L207I													.	SLC38A6	87	0			c.C619A						.						136	130	132					14																	61504396		2195	4294	6489	SO:0001583	missense	145389	exon8			TTTGCTCTTGTGG	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	ENST00000267488.4:c.619C>A	14.37:g.61504396C>A	ENSP00000267488:p.Leu207Ile	53	0		34	4	NM_153811	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	C	2.398	-0.338374	0.05243	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840	T;T;T;T	0.02369	4.32;4.32;4.32;4.32	5.99	1.82	0.25136	.	0.331621	0.31936	N	0.006828	T	0.01124	0.0037	N	0.03967	-0.31	0.32009	N	0.60232	B;B;B	0.13145	0.007;0.005;0.001	B;B;B	0.13407	0.007;0.004;0.009	T	0.43589	-0.9382	10	0.02654	T	1	-2.7693	7.1188	0.25431	0.1164:0.4831:0.337:0.0635	.	184;207;207	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	I	207;207;202;184	ENSP00000346959:L207I;ENSP00000267488:L207I;ENSP00000395851:L202I;ENSP00000413863:L184I	ENSP00000267488:L207I	L	+	1	0	SLC38A6	60574149	0.894000	0.30519	0.996000	0.52242	0.994000	0.84299	0.113000	0.15499	0.832000	0.34804	0.655000	0.94253	CTT	.		0.294	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			A	61504396	C	A	61504396	3	1	21	1	0	0	0	0	1	0	0	0	14653	913	32	3	649	3	SLC38A6	14	61504396	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	7884916	61504396	45845144	62	2871											
CYP46A1	10858	hgsc.bcm.edu	37	14	100158142	100158142	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:100158142C>T	ENST00000261835.3	+	3	330	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	76					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|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)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ACCTGTTGTGCGGGTCAACGT	0.532																																					p.R76W		.											CYP46A1,NS,carcinoma,0,1	CYP46A1	0	0			c.C226T						.						209	181	191					14																	100158142		2203	4300	6503	SO:0001583	missense	10858	exon3			GTTGTGCGGGTCA	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.226C>T	14.37:g.100158142C>T	ENSP00000261835:p.Arg76Trp	63	0		51	3	NM_006668	B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820824|2.820824	0.50633|0.50633	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.70986	.|-0.53	4.32|4.32	3.4|3.4	0.38934|0.38934	.|.	.|0.056381	.|0.64402	.|D	.|0.000002	T|T	0.66247|0.66247	0.2770|0.2770	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D	.|0.53619	.|0.961	.|B	.|0.43623	.|0.425	T|T	0.67417|0.67417	-0.5676|-0.5676	5|10	.|0.51188	.|T	.|0.08	.|.	9.2366|9.2366	0.37470|0.37470	0.2256:0.7743:0.0:0.0|0.2256:0.7743:0.0:0.0	.|.	.|76	.|Q9Y6A2	.|CP46A_HUMAN	V|W	62|76	.|ENSP00000261835:R76W	.|ENSP00000261835:R76W	A|R	+|+	2|1	0|2	CYP46A1|CYP46A1	99227895|99227895	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.939000|0.939000	0.58152|0.58152	2.366000|2.366000	0.44204|0.44204	1.114000|1.114000	0.41781|0.41781	0.563000|0.563000	0.77884|0.77884	GCG|CGG	.		0.532	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			T	100158142	C	T	100158142	3	4	21	1	0	0	0	0	1	0	0	0	4191	759	27	1	236	1	CYP46A1	14	100158142	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	38653746	100158142	7191398	63	2872											
JMJD7	100137047	hgsc.bcm.edu	37	15	42129066	42129066	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr15:42129066C>T	ENST00000397299.4	+	7	830	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	JMJD7_ENST00000408047.1_Missense_Mutation_p.R165W|JMJD7-PLA2G4B_ENST00000476036.1_Intron|PLA2G4B_ENST00000458483.1_5'Flank|PLA2G4B_ENST00000542534.2_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_Intron	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	264	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CTGCACGGTGCGGGCCGGTGA	0.652																																					p.R264W		.											JMJD7-PLA2G4B_ENST00000542534,NS,carcinoma,0,2	JMJD7-PLA2G4B_ENST00000542534	0	0			c.C790T						.						30	30	30					15																	42129066		1568	3582	5150	SO:0001583	missense	100137047	exon7			ACGGTGCGGGCCG		CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.790C>T	15.37:g.42129066C>T	ENSP00000380467:p.Arg264Trp	44	0		40	2	NM_001114632	A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.434650	0.43224	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000405106;ENST00000542534;ENST00000335032	T;T;T	0.72167	-0.63;2.73;-0.63	4.98	2.94	0.34122	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.	.	.	.	T	0.75810	0.3900	M	0.75264	2.295	0.28046	N	0.933537	D	0.55605	0.972	P	0.49597	0.616	T	0.70204	-0.4936	9	0.72032	D	0.01	.	12.2254	0.54457	0.4471:0.5529:0.0:0.0	.	264	P0C870	JMJD7_HUMAN	W	264;165;165;264;184	ENSP00000380467:R264W;ENSP00000384174:R165W;ENSP00000441905:R264W	ENSP00000380467:R264W	R	+	1	2	JMJD7-PLA2G4B;JMJD7	39916358	0.997000	0.39634	0.931000	0.37212	0.061000	0.15899	1.930000	0.40124	1.202000	0.43218	-0.182000	0.12963	CGG	.		0.652	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		T	42129066	C	T	42129066	3	4	21	1	0	0	0	0	1	0	0	0	7981	759	27	1	816	1	JMJD7	15	42129066	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09		42129066	60402326	64	2873											
CDH13	1012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	83520260	83520260	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr16:83520260G>A	ENST00000566620.1	+	7	1250	c.960G>A	c.(958-960)gaG>gaA	p.E320E	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Splice_Site_p.E281E|CDH13_ENST00000268613.10_Splice_Site_p.E367E	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	320	Cadherin 2. {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)		TGGACCGAGAGGTGAGCTGAA	0.468																																					p.E367E		.											.	.	.	0			c.G1101A						.						75	71	73					16																	83520260		2024	4195	6219	SO:0001630	splice_region_variant	1012	exon8			CCGAGAGGTGAGC	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.960+1G>A	16.37:g.83520260G>A		22	0		25	7	NM_001220488	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148731	0.57151	.	.	ENSG00000140945	ENST00000540531	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH13	82077761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.054000	0.93866	2.664000	0.90586	0.655000	0.94253	.	.		0.468	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	Silent	A	83520260	G	A	83520260	5	1	21	1	0	0	0	0	0	0	1	0	3106	1014	35	3	986	3	CDH13	16	83520260	Splice_Site	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		83520260	6834493	65	2874											
SMG6	23293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	1972077	1972077	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:1972077A>C	ENST00000263073.6	-	16	3880	c.3830T>G	c.(3829-3831)cTc>cGc	p.L1277R	SMG6_ENST00000536871.2_Missense_Mutation_p.L369R|SMG6_ENST00000544865.1_Missense_Mutation_p.L1246R|SMG6_ENST00000354901.4_Missense_Mutation_p.L369R|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1277	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)|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						CTCACCGATGAGGGGCACCAC	0.652																																					p.L1277R	Melanoma(59;28 1088 11621 25887 46638 50814)	.											.	.	.	0			c.T3830G						.						71	61	64					17																	1972077		2203	4300	6503	SO:0001583	missense	23293	exon16			CCGATGAGGGGCA	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.3830T>G	17.37:g.1972077A>C	ENSP00000263073:p.Leu1277Arg	17	0		22	6	NM_017575	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061263	0.76187	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T;T	0.29397	2.6;2.6;1.57;1.79	6.08	6.08	0.98989	Nucleotide binding protein, PINc (1);	0.000000	0.64402	D	0.000004	T	0.51924	0.1703	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44483	-0.9325	10	0.41790	T	0.15	-6.1018	16.6438	0.85155	1.0:0.0:0.0:0.0	.	1277	Q86US8	EST1A_HUMAN	R	1277;1246;188;369	ENSP00000263073:L1277R;ENSP00000443920:L1246R;ENSP00000346977:L188R;ENSP00000440283:L369R	ENSP00000263073:L1277R	L	-	2	0	SMG6	1918827	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.603000	0.90871	2.333000	0.79357	0.533000	0.62120	CTC	.		0.652	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			C	1972077	A	C	1972077	3	2	21	1	0	0	0	0	1	0	0	0	14842	304	11	4	445	4	SMG6	17	1972077	Missense_Mutation	SNP	A	TCGA-W5-AA33-01A-11D-A417-09		1972077	79223133	66	2875											
GAS7	8522	hgsc.bcm.edu	37	17	9862568	9862568	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:9862568A>G	ENST00000432992.2	-	5	636	c.476T>C	c.(475-477)cTg>cCg	p.L159P	GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Missense_Mutation_p.L95P|GAS7_ENST00000542249.1_Missense_Mutation_p.L95P|GAS7_ENST00000437099.2_Missense_Mutation_p.L95P|GAS7_ENST00000580865.1_Missense_Mutation_p.L19P|GAS7_ENST00000585266.1_Missense_Mutation_p.L99P|GAS7_ENST00000323816.4_Missense_Mutation_p.L99P|GAS7_ENST00000583882.1_Missense_Mutation_p.L19P|GAS7_ENST00000396115.2_Missense_Mutation_p.L95P|GAS7_ENST00000579158.1_Missense_Mutation_p.L95P	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	159					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L159Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGAGGATCCCAGGTTCTGGGG	0.562			T	MLL	AML*						OREG0024172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L159P		.		Dom	yes		17	17p	8522	growth arrest-specific 7		L	GAS7,NS,carcinoma,0,1	GAS7	0	1	Substitution - Missense(1)	kidney(1)	c.T476C						.						138	108	118					17																	9862568		2203	4300	6503	SO:0001583	missense	8522	exon5			GATCCCAGGTTCT	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.476T>C	17.37:g.9862568A>G	ENSP00000407552:p.Leu159Pro	41	0	660	35	2	NM_201433	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794457	0.31777	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970	T;T;T	0.48522	1.47;2.12;0.81	4.96	3.84	0.44239	.	0.174895	0.37261	N	0.002176	T	0.15609	0.0376	N	0.01576	-0.805	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	0.13282	-1.0515	9	.	.	.	0.87	4.1957	0.10441	0.7404:0.0:0.2596:0.0	.	111;99;19;159	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	P	159;99;98;19;95;99	ENSP00000322608:L159P;ENSP00000379421:L99P;ENSP00000446214:L95P	.	L	-	2	0	GAS7	9803293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.129000	0.57957	2.112000	0.64535	0.529000	0.55759	CTG	.		0.562	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		G	9862568	A	G	9862568	3	3	21	1	0	0	0	0	1	0	0	0	6275	188	7	4	994	4	GAS7	17	9862568	Missense_Mutation	SNP	A	TCGA-W5-AA33-01A-11D-A417-09	7890491	9862568	71332642	67	2876											
PIGS	94005	hgsc.bcm.edu	37	17	26898495	26898495	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:26898495G>A	ENST00000308360.7	-	1	395	c.20C>T	c.(19-21)gCg>gTg	p.A7V	PIGS_ENST00000543734.1_5'UTR|PIGS_ENST00000395346.2_5'UTR|RP11-192H23.5_ENST00000585189.1_RNA	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	7					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GTGTGTAGCCGCAGCCCCGGC	0.672																																					p.A7V		.											.	.	.	0			c.C20T						.						7	10	9					17																	26898495		2114	4181	6295	SO:0001583	missense	94005	exon1			GTAGCCGCAGCCC		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.20C>T	17.37:g.26898495G>A	ENSP00000309430:p.Ala7Val	73	0		89	4	NM_033198	Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779686	0.31502	.	.	ENSG00000087111	ENST00000308360	T	0.46819	0.86	4.17	2.11	0.27256	.	0.735850	0.13461	N	0.386154	T	0.26448	0.0646	N	0.14661	0.345	0.21290	N	0.999736	B	0.23806	0.091	B	0.14023	0.01	T	0.15780	-1.0425	10	0.56958	D	0.05	-1.382	4.9766	0.14144	0.108:0.0:0.685:0.207	.	7	Q96S52	PIGS_HUMAN	V	7	ENSP00000309430:A7V	ENSP00000309430:A7V	A	-	2	0	PIGS	23922622	0.006000	0.16342	0.001000	0.08648	0.201000	0.24016	0.883000	0.28200	0.668000	0.31126	0.462000	0.41574	GCG	.		0.672	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		A	26898495	G	A	26898495	3	1	21	1	0	0	0	0	1	0	0	0	11937	1087	38	1	1695	1	PIGS	17	26898495	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	17035927	26898495	54296715	68	2877											
ABCA6	23460	hgsc.bcm.edu;bcgsc.ca	37	17	67080420	67080420	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:67080420G>A	ENST00000284425.2	-	34	4511	c.4337C>T	c.(4336-4338)aCa>aTa	p.T1446I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1446	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(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)					CTGCTGCCCTGTGGGGTCTAT	0.498																																					p.T1446I		.											.	.	.	0			c.C4337T						.						90	86	88					17																	67080420		2203	4300	6503	SO:0001583	missense	23460	exon34			TGCCCTGTGGGGT	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.4337C>T	17.37:g.67080420G>A	ENSP00000284425:p.Thr1446Ile	34	0		26	4	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	8.324	0.825053	0.16678	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.59906	0.23	5.04	1.72	0.24424	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.146790	0.06584	N	0.750833	T	0.25754	0.0627	N	0.00873	-1.125	0.21290	N	0.999735	B	0.17465	0.022	B	0.22880	0.042	T	0.18871	-1.0323	10	0.49607	T	0.09	.	3.1359	0.06438	0.0923:0.1227:0.4851:0.2999	.	1446	Q8N139	ABCA6_HUMAN	I	1446;306	ENSP00000284425:T1446I	ENSP00000284425:T1446I	T	-	2	0	ABCA6	64592015	0.008000	0.16893	0.002000	0.10522	0.383000	0.30230	1.776000	0.38594	0.705000	0.31890	-0.291000	0.09656	ACA	.		0.498	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		A	67080420	G	A	67080420	3	1	21	1	0	0	0	0	1	0	0	0	36	1377	48	3	540	3	ABCA6	17	67080420	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	40181925	67080420	14114790	69	2878											
CDH20	28316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	59174732	59174732	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr18:59174732C>A	ENST00000262717.4	+	6	1354	c.956C>A	c.(955-957)gCa>gAa	p.A319E	CDH20_ENST00000536675.2_Missense_Mutation_p.A319E|CDH20_ENST00000538374.1_Missense_Mutation_p.A319E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	319	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)				GGAGATGGTGCAGATGCCTTT	0.433																																					p.A319E		.											.	.	.	0			c.C956A						.						180	152	162					18																	59174732		2203	4300	6503	SO:0001583	missense	28316	exon5			ATGGTGCAGATGC	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.956C>A	18.37:g.59174732C>A	ENSP00000262717:p.Ala319Glu	39	0		37	9	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900675	0.33535	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.50813	0.73;0.73;0.73	5.76	4.78	0.61160	Cadherin (4);Cadherin-like (1);	0.289069	0.34507	N	0.003910	T	0.32315	0.0825	L	0.39566	1.225	0.31655	N	0.64631	B	0.16802	0.019	B	0.25759	0.063	T	0.25745	-1.0123	10	0.14252	T	0.57	.	3.7716	0.08643	0.0:0.6701:0.0:0.3299	.	319	Q9HBT6	CAD20_HUMAN	E	319	ENSP00000444767:A319E;ENSP00000442226:A319E;ENSP00000262717:A319E	ENSP00000262717:A319E	A	+	2	0	CDH20	57325712	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.742000	0.47434	2.719000	0.93026	0.555000	0.69702	GCA	.		0.433	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		A	59174732	C	A	59174732	3	1	21	1	0	0	0	0	1	0	0	0	3113	710	25	3	974	3	CDH20	18	59174732	Missense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09		59174732	18902516	70	2879											
CNDP1	84735	hgsc.bcm.edu	37	18	72251796	72251796	+	Nonstop_Mutation	SNP	T	T	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr18:72251796T>A	ENST00000358821.3	+	12	1750	c.1522T>A	c.(1522-1524)Taa>Aaa	p.*508K	CNDP1_ENST00000582365.1_Nonstop_Mutation_p.*465K	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	0						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)		CCAGCTCCATTAATCACAAGA	0.413																																					p.X508K	Melanoma(32;1029 1042 25286 38395 44237)	.											CNDP1,NS,carcinoma,0,1	CNDP1	0	0			c.T1522A						.						103	101	102					18																	72251796		2203	4300	6503	SO:0001578	stop_lost	84735	exon12			CTCCATTAATCAC		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.1522T>A	18.37:g.72251796T>A	ENSP00000351682:p.*508Lysext*9	27	0		30	2	NM_032649	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	T	3.519	-0.098175	0.07010	.	.	ENSG00000150656	ENST00000358821	.	.	.	4.59	-1.18	0.09617	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4971	0.04624	0.2384:0.0826:0.4213:0.2577	.	.	.	.	K	508	.	.	X	+	1	0	CNDP1	70402776	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.857000	0.04286	-0.511000	0.06514	-0.406000	0.06334	TAA	.		0.413	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		A	72251796	T	A	72251796	4	1	21	1	0	0	0	0	0	0	0	0	3600	1767	61	5	1568	5	CNDP1	18	72251796	Nonstop_Mutation	SNP	T	TCGA-W5-AA33-01A-11D-A417-09	13077064	72251796	5825452	71	2880											
GLTSCR1	29998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	48198732	48198732	+	Splice_Site	SNP	G	G	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr19:48198732G>C	ENST00000396720.3	+	10	3380		c.e10+1		CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1											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)		CGGGCTGCAGGTAAGGGGCCC	0.647																																					.		.											.	.	.	0			c.3186+1G>C						.						9	10	10					19																	48198732		2011	4171	6182	SO:0001630	splice_region_variant	29998	exon10			CTGCAGGTAAGGG	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.3186+1G>C	19.37:g.48198732G>C		37	0		59	22	NM_015711	A8MW01	Splice_Site	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684568	0.29872	.	.	ENSG00000063169	ENST00000396720	.	.	.	2.82	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3265	0.26557	0.0:0.2756:0.7244:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLTSCR1	52890544	1.000000	0.71417	0.361000	0.25849	0.209000	0.24338	3.184000	0.50926	0.464000	0.27142	0.313000	0.20887	.	.		0.647	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711	Intron	C	48198732	G	C	48198732	5	2	21	1	0	0	0	0	0	0	1	0	6500	1275	44	5	3217	5	GLTSCR1	19	48198732	Splice_Site	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		48198732	10930251	72	2881											
ZNF415	55786	hgsc.bcm.edu	37	19	53612346	53612346	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr19:53612346G>T	ENST00000500065.4	-	4	1285	c.952C>A	c.(952-954)Cat>Aat	p.H318N	ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.H305N|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.H88N|ZNF415_ENST00000455735.2_Missense_Mutation_p.H366N|ZNF415_ENST00000243643.4_Missense_Mutation_p.H318N|ZNF415_ENST00000448501.1_Missense_Mutation_p.H366N|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.H330N|ZNF415_ENST00000597503.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	366					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)	p.H318N(1)		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)		GTTTTCTGATGTAGTGCAAGG	0.418																																					p.H318N		.											ZNF415,NS,carcinoma,0,1	ZNF415	0	1	Substitution - Missense(1)	lung(1)	c.C952A						.						91	84	86					19																	53612346		2203	4300	6503	SO:0001583	missense	55786	exon4			TCTGATGTAGTGC	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.952C>A	19.37:g.53612346G>T	ENSP00000439435:p.His318Asn	36	0		37	2	NM_018355	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343594	0.41498	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95357	0.8493	H	0.96604	3.85	0.09310	N	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.96;0.998;0.999	P;D;D;D;D;D	0.91635	0.895;0.999;0.936;0.938;0.946;0.998	D	0.87421	0.2382	9	0.87932	D	0	.	12.3152	0.54951	0.0:0.0:1.0:0.0	.	318;366;366;318;305;330	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	N	318;318;366;330;366;305	ENSP00000243643:H318N;ENSP00000439435:H318N;ENSP00000396492:H366N;ENSP00000395055:H330N;ENSP00000388787:H366N;ENSP00000414601:H305N	ENSP00000243643:H318N	H	-	1	0	ZNF415	58304158	1.000000	0.71417	0.006000	0.13384	0.007000	0.05969	4.240000	0.58701	1.460000	0.47911	0.491000	0.48974	CAT	.		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		T	53612346	G	T	53612346	3	4	21	1	0	0	0	0	1	0	0	0	17940	1377	48	3	719	3	ZNF415	19	53612346	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	5413614	53612346	5516637	73	2882											
ZNF547	284306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	57888623	57888623	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr19:57888623C>T	ENST00000282282.3	+	4	429	c.279C>T	c.(277-279)agC>agT	p.S93S	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	93					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)		AGACATGTAGCTCACTTCTGA	0.537																																					p.S93S		.											.	.	.	0			c.C279T						.						129	102	111					19																	57888623		2203	4300	6503	SO:0001819	synonymous_variant	284306	exon4			ATGTAGCTCACTT	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.279C>T	19.37:g.57888623C>T		22	0		24	7	NM_173631	A8K5Z9|Q96NC4	Silent	SNP	ENST00000282282.3	37	CCDS33131.1																																																																																			.		0.537	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		T	57888623	C	T	57888623	2	4	21	1	0	0	0	0	0	0	0	1	18027	796	28	3		3	ZNF547	19	57888623	Silent	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	4276277	57888623	1240360	74	2883											
SLC32A1	140679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	37353459	37353459	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr20:37353459T>A	ENST00000217420.1	+	1	355	c.92T>A	c.(91-93)aTg>aAg	p.M31K		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.M31K		.											SLC32A1,lower_third,carcinoma,0,1	SLC32A1	0	0			c.T92A						.						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>A	20.37:g.37353459T>A	ENSP00000217420:p.Met31Lys	29	0		29	5	NM_080552	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805981	0.50421	.	.	ENSG00000101438	ENST00000217420	T	0.08282	3.11	4.85	3.73	0.42828	.	0.044040	0.85682	D	0.000000	T	0.05502	0.0145	N	0.19112	0.55	0.48185	D	0.999603	B	0.17038	0.02	B	0.12156	0.007	T	0.39961	-0.9588	10	0.21540	T	0.41	-34.28	9.8857	0.41260	0.0:0.0:0.1724:0.8276	.	31	Q9H598	VIAAT_HUMAN	K	31	ENSP00000217420:M31K	ENSP00000217420:M31K	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	.		0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		A	37353459	T	A	37353459	3	1	21	1	0	0	0	0	1	0	0	0	14610	1464	51	5	94	5	SLC32A1	20	37353459	Missense_Mutation	SNP	T	TCGA-W5-AA33-01A-11D-A417-09		37353459	25672061	75	2884											
TSHZ2	128553	bcgsc.ca	37	20	51872335	51872335	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr20:51872335G>T	ENST00000371497.5	+	2	3225	c.2338G>T	c.(2338-2340)Gca>Tca	p.A780S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A777S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A777S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	780					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)			GTCCTCGCAAGCACAATCTTG	0.562																																					p.A780S													TSHZ2,NS,carcinoma,-1,1	TSHZ2	209	0			c.G2338T						.						112	106	108					20																	51872335		2203	4300	6503	SO:0001583	missense	128553	exon2			TCGCAAGCACAAT	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.2338G>T	20.37:g.51872335G>T	ENSP00000360552:p.Ala780Ser	28	0		20	3	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297583	0.40694	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.15017	2.46;2.46	5.09	5.09	0.68999	.	0.122273	0.56097	D	0.000029	T	0.24392	0.0591	L	0.60455	1.87	0.44798	D	0.997801	D	0.53151	0.958	P	0.45276	0.475	T	0.02020	-1.1228	10	0.33940	T	0.23	-6.3838	18.4935	0.90855	0.0:0.0:1.0:0.0	.	780	Q9NRE2	TSH2_HUMAN	S	780;777;306	ENSP00000360552:A780S;ENSP00000333114:A777S	ENSP00000333114:A777S	A	+	1	0	TSHZ2	51305742	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.206000	0.51098	2.349000	0.79799	0.579000	0.79373	GCA	.		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51872335	G	T	51872335	3	4	21	1	0	0	0	0	1	0	0	0	16672	971	34	3	2344	3	TSHZ2	20	51872335	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	14518876	51872335	11153185	76	2885											
CCT8L2	150160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	17072592	17072592	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr22:17072592G>T	ENST00000359963.3	-	1	1108	c.849C>A	c.(847-849)ggC>ggA	p.G283G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	283					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)				CTGCTAGCTGGCCTACTTGCT	0.512																																					p.G283G		.											.	.	.	0			c.C849A						.						184	166	172					22																	17072592		2203	4300	6503	SO:0001819	synonymous_variant	150160	exon1			TAGCTGGCCTACT	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.849C>A	22.37:g.17072592G>T		42	0		30	7	NM_014406	A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	CCDS13738.1																																																																																			.		0.512	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072592	G	T	17072592	2	4	21	1	0	0	0	0	0	0	0	1	2968	1190	42	3		3	CCT8L2	22	17072592	Silent	SNP	G	TCGA-W5-AA33-01A-11D-A417-09		17072592	34231974	77	2886											
SLC5A1	6523	broad.mit.edu	37	22	32500775	32500775	+	Silent	SNP	C	C	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr22:32500775C>G	ENST00000266088.4	+	14	1918	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	SLC5A1_ENST00000543737.1_Silent_p.L429L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	556					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CTCTGCAGCTCTACCGTCTGT	0.507																																					p.L556L													.	SLC5A1	80	0			c.C1668G						.						80	69	72					22																	32500775		2203	4300	6503	SO:0001819	synonymous_variant	6523	exon14			GCAGCTCTACCGT		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1668C>G	22.37:g.32500775C>G		20	0		27	5	NM_000343	B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	CCDS13902.1																																																																																			.		0.507	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		G	32500775	C	G	32500775	2	3	21	1	0	0	0	0	0	0	0	1	14706	900	32	5		5	SLC5A1	22	32500775	Silent	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	15428183	32500775	18803791	78	2887											
NUP50	10762	hgsc.bcm.edu	37	22	45574136	45574136	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr22:45574136G>T	ENST00000347635.4	+	5	824	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C	CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.G92C|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.G92C	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	120	5 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)|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)		TGCTGCAAATGGCCCTACCAC	0.408																																					p.G120C		.											.	.	.	0			c.G358T						.						69	69	69					22																	45574136		2203	4300	6503	SO:0001583	missense	10762	exon5			GCAAATGGCCCTA	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.358G>T	22.37:g.45574136G>T	ENSP00000345895:p.Gly120Cys	110	0		72	4	NM_007172	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	CCDS14062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840930|2.840930	0.51057|0.51057	.|.	.|.	ENSG00000093000|ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000396096|ENST00000430547	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Nuclear pore complex, NUP2/50/61 (1);|.	0.153416|.	0.64402|.	D|.	0.000017|.	T|T	0.71126|0.71126	0.3303|0.3303	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.66512|0.66512	-0.5905|-0.5905	9|6	0.56958|0.26408	D|T	0.05|0.33	-21.1826|-21.1826	15.1946|15.1946	0.73078|0.73078	0.0:0.1403:0.8597:0.0|0.0:0.1403:0.8597:0.0	.|.	120|.	Q9UKX7|.	NUP50_HUMAN|.	C|I	120;92;92|57	.|.	ENSP00000345895:G120C|ENSP00000397960:M57I	G|M	+|+	1|3	0|0	NUP50|NUP50	43952800|43952800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.497000|0.497000	0.33675|0.33675	3.645000|3.645000	0.54389|0.54389	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GGC|ATG	.		0.408	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			T	45574136	G	T	45574136	3	4	21	1	0	0	0	0	1	0	0	0	10805	1348	47	3	372	3	NUP50	22	45574136	Missense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	13073361	45574136	5730430	79	2888											
USP9X	8239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	41043819	41043819	+	Missense_Mutation	SNP	A	A	G	rs377036436		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:41043819A>G	ENST00000324545.8	+	23	4082	c.3449A>G	c.(3448-3450)aAt>aGt	p.N1150S	USP9X_ENST00000378308.2_Missense_Mutation_p.N1150S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1150					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						GCCTACCTCAATGCTCTTAAA	0.468																																					p.N1150S	Ovarian(172;1807 2695 35459 49286)	.											.	.	.	0			c.A3449G						.	A	SER/ASN,SER/ASN	1,3774		0,1,1601,571	100	92	94		3449,3449	5.7	1	X		94	0,6698		0,0,2417,1864	no	missense,missense	USP9X	NM_001039591.2,NM_001039590.2	46,46	0,1,4018,2435	GG,GA,AA,A		0.0,0.0265,0.0095	benign,benign	1150/2555,1150/2571	41043819	1,10472	2173	4281	6454	SO:0001583	missense	8239	exon23			ACCTCAATGCTCT	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.3449A>G	X.37:g.41043819A>G	ENSP00000316357:p.Asn1150Ser	28	0		34	10	NM_001039591	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469914	0.26423	2.65E-4	0.0	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.16196	2.36;2.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	N	0.03608	-0.345	0.50467	D	0.999876	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15983	-1.0418	10	0.06365	T	0.9	.	14.8463	0.70261	1.0:0.0:0.0:0.0	.	1150;1150	Q93008-1;Q93008	.;USP9X_HUMAN	S	1150	ENSP00000367558:N1150S;ENSP00000316357:N1150S	ENSP00000316357:N1150S	N	+	2	0	USP9X	40928763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.032000	0.70918	1.887000	0.54652	0.417000	0.27973	AAT	.		0.468	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41043819	A	G	41043819	3	3	21	1	0	0	0	0	1	0	0	0	17139	101	4	4	3535	4	USP9X	23	41043819	Missense_Mutation	SNP	A	TCGA-W5-AA33-01A-11D-A417-09		41043819	114226741	80	2889											
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu	37	X	49079211	49079211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:49079211G>T	ENST00000376265.2	-	16	2266	c.2205C>A	c.(2203-2205)tgC>tgA	p.C735*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.C670*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.C724*|CACNA1F_ENST00000480889.1_5'UTR	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	735					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)	TGAAATAGATGCACACCAACA	0.527																																					p.C735X		.											.	.	.	0			c.C2205A						.						141	106	118					X																	49079211		2203	4300	6503	SO:0001587	stop_gained	778	exon16			ATAGATGCACACC	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.2205C>A	X.37:g.49079211G>T	ENSP00000365441:p.Cys735*	7	0		9	6	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	37	6.178486	0.97352	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	4.49	0.49	0.16861	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8715	0.29569	0.6162:0.0:0.3838:0.0	.	.	.	.	X	670;724;735	.	ENSP00000321618:C724X	C	-	3	2	CACNA1F	48966155	0.004000	0.15560	0.901000	0.35422	0.878000	0.50629	0.012000	0.13287	-0.082000	0.12640	0.411000	0.27672	TGC	.		0.527	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49079211	G	T	49079211	4	4	21	1	0	0	0	0	0	1	0	0	2550	1311	46	3	3860	3	CACNA1F	23	49079211	Nonsense_Mutation	SNP	G	TCGA-W5-AA33-01A-11D-A417-09	8035392	49079211	106191349	81	2890											
MAGED1	9500	bcgsc.ca	37	X	51640347	51640347	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:51640347A>G	ENST00000375722.1	+	5	1718	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	MAGED1_ENST00000375772.3_Missense_Mutation_p.K489R|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.K489R|MAGED1_ENST00000375695.2_Missense_Mutation_p.K545R			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	489	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|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 branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GACTACACAAAGGTGCCCATC	0.438										Multiple Myeloma(10;0.10)																											p.K545R													.	MAGED1	84	0			c.A1634G						.						103	74	84					X																	51640347		2203	4300	6503	SO:0001583	missense	9500	exon6			ACACAAAGGTGCC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1466A>G	X.37:g.51640347A>G	ENSP00000364874:p.Lys489Arg	33	0		22	3	NM_001005333	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.716015	0.48622	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	3.54	3.54	0.40534	.	0.000000	0.39687	N	0.001285	T	0.16811	0.0404	L	0.58583	1.82	0.41391	D	0.98761	D;D	0.67145	0.996;0.979	D;D	0.73708	0.981;0.973	T	0.00573	-1.1664	10	0.54805	T	0.06	.	7.7128	0.28688	1.0:0.0:0.0:0.0	.	545;489	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	R	489;489;489;545	ENSP00000364927:K489R;ENSP00000364874:K489R;ENSP00000325333:K489R;ENSP00000364847:K545R	ENSP00000325333:K489R	K	+	2	0	MAGED1	51657087	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.727000	0.61993	1.634000	0.50500	0.350000	0.21858	AAG	.		0.438	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		G	51640347	A	G	51640347	3	3	21	1	0	0	0	0	1	0	0	0	9221	72	3	4	1652	4	MAGED1	23	51640347	Missense_Mutation	SNP	A	TCGA-W5-AA33-01A-11D-A417-09	2561136	51640347	103630213	82	2891											
NONO	4841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70516449	70516449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:70516449C>T	ENST00000276079.8	+	6	890	c.685C>T	c.(685-687)Cag>Tag	p.Q229*	NONO_ENST00000535149.1_Nonsense_Mutation_p.Q140*|NONO_ENST00000373841.1_Nonsense_Mutation_p.Q229*|NONO_ENST00000373856.3_Nonsense_Mutation_p.Q229*|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	229	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCCCATGGACCAGTTAGATGA	0.423			T	TFE3	papillary renal cancer																																p.Q229X		.		Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	.	.	.	0			c.C685T						.						89	62	71					X																	70516449		2203	4300	6503	SO:0001587	stop_gained	4841	exon7			ATGGACCAGTTAG	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.685C>T	X.37:g.70516449C>T	ENSP00000276079:p.Gln229*	31	0		26	11	NM_001145408	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	37	6.471847	0.97594	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.3867	16.9552	0.86257	0.0:1.0:0.0:0.0	.	.	.	.	X	140;229;229;229	.	ENSP00000276079:Q229X	Q	+	1	0	NONO	70433174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.501000	0.81600	2.269000	0.75478	0.529000	0.55759	CAG	.		0.423	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		T	70516449	C	T	70516449	4	4	21	1	0	0	0	0	0	1	0	0	10573	595	21	3	699	3	NONO	23	70516449	Nonsense_Mutation	SNP	C	TCGA-W5-AA33-01A-11D-A417-09	18876102	70516449	84754111	83	2892											
ODZ1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	123839042	123839042	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:123839042T>C	ENST00000371130.3	-	5	899	c.836A>G	c.(835-837)aAc>aGc	p.N279S	TENM1_ENST00000422452.2_Missense_Mutation_p.N279S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	279	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)										CAGAGGGTAGTTCTGACTGGC	0.488																																					p.N279S		.											.	.	.	0			c.A836G						.						118	105	110					X																	123839042		2203	4300	6503	SO:0001583	missense	10178	exon5			GGGTAGTTCTGAC	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.836A>G	X.37:g.123839042T>C	ENSP00000360171:p.Asn279Ser	25	0		31	10	NM_001163278	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488352	0.64074	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.28069	1.63;1.63	5.69	5.69	0.88448	Teneurin intracellular, N-terminal (2);	0.124662	0.56097	D	0.000036	T	0.28599	0.0708	L	0.36672	1.1	0.40534	D	0.980956	P;P;P	0.45428	0.798;0.798;0.858	P;P;P	0.44673	0.457;0.457;0.45	T	0.10291	-1.0636	10	0.72032	D	0.01	.	9.4769	0.38878	0.0:0.0797:0.0:0.9203	.	279;279;279	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	279	ENSP00000360171:N279S;ENSP00000403954:N279S	ENSP00000360171:N279S	N	-	2	0	ODZ1	123666723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.379000	0.59575	1.905000	0.55150	0.425000	0.28330	AAC	.		0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		C	123839042	T	C	123839042	3	2	21	1	0	0	0	0	1	0	0	0	10873	1725	60	4	7474	4	ODZ1	23	123839042	Missense_Mutation	SNP	T	TCGA-W5-AA33-01A-11D-A417-09	53322593	123839042	31431518	84	2893											
PLEKHG5	57449	hgsc.bcm.edu	37	1	6529206	6529206	+	Silent	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr1:6529206C>T	ENST00000400915.3	-	20	2379	c.2313G>A	c.(2311-2313)gaG>gaA	p.E771E	PLEKHG5_ENST00000377737.2_Silent_p.E715E|PLEKHG5_ENST00000535355.1_Silent_p.E784E|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000544978.1_Silent_p.E715E|PLEKHG5_ENST00000340850.5_Silent_p.E715E|PLEKHG5_ENST00000377748.1_Silent_p.E792E|PLEKHG5_ENST00000400913.1_Silent_p.E715E|PLEKHG5_ENST00000377740.3_Silent_p.E792E|PLEKHG5_ENST00000377728.3_Silent_p.E715E|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000537245.1_Silent_p.E794E|PLEKHG5_ENST00000377725.1_Silent_p.E715E|PLEKHG5_ENST00000377732.1_Silent_p.E752E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	771	Glu-rich.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|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)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcctcctcttcctcct	0.637																																					p.E794E		.											PLEKHG5_ENST00000377748,colon,carcinoma,0,1	PLEKHG5_ENST00000377748	0	0			c.G2382A						.						75	76	76					1																	6529206		2203	4300	6503	SO:0001819	synonymous_variant	57449	exon20			CTCCTCCTCTTCC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2313G>A	1.37:g.6529206C>T		18	0		12	2	NM_001265592	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																			.		0.637	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		T	6529206	C	T	6529206	2	4	22	1	0	0	0	0	0	0	0	1	12112	680	24	3		3	PLEKHG5	1	6529206	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		6529206	242721415	1	2894											
TTC39A	22996	bcgsc.ca	37	1	51777814	51777814	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr1:51777814G>T	ENST00000447632.2	-	4	383	c.335C>A	c.(334-336)cCc>cAc	p.P112H	TTC39A_ENST00000262675.7_Missense_Mutation_p.P84H|TTC39A_ENST00000371747.3_Missense_Mutation_p.P111H|TTC39A_ENST00000371750.5_Missense_Mutation_p.P112H|TTC39A_ENST00000413473.2_Missense_Mutation_p.P115H|TTC39A_ENST00000262676.5_Missense_Mutation_p.P108H|TTC39A_ENST00000451380.1_Missense_Mutation_p.P111H			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	112								p.0?(2)|p.P84L(1)|p.P112L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GCCCAGCGTGGGGCGGTTCAC	0.567																																					p.P115H													C1orf34,NS,carcinoma,0,1	TTC39A	40	4	Substitution - Missense(2)|Whole gene deletion(2)	endometrium(2)|thyroid(1)|central_nervous_system(1)	c.C344A						.						40	43	42					1																	51777814		1904	4124	6028	SO:0001583	missense	22996	exon4			AGCGTGGGGCGGT	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.335C>A	1.37:g.51777814G>T	ENSP00000393952:p.Pro112His	39	0		59	4	NM_001144832	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37		.	.	.	.	.	.	.	.	.	.	G	7.657	0.684216	0.14907	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925;ENST00000380849;ENST00000401051;ENST00000532836;ENST00000527205	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	3.09	3.09	0.35607	.	0.778979	0.11529	N	0.554851	T	0.35068	0.0919	N	0.12182	0.205	0.09310	N	1	B;B;P;D;P;B;P	0.54047	0.003;0.003;0.586;0.964;0.783;0.007;0.531	B;B;B;P;P;B;P	0.54372	0.016;0.039;0.436;0.75;0.617;0.043;0.482	T	0.09271	-1.0682	10	0.42905	T	0.14	-0.8049	7.6124	0.28137	0.0:0.0:0.7462:0.2538	.	115;111;84;108;111;112;112	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	H	112;115;84;111;112;111;108;84;111;84;84;115;84;139	ENSP00000393952:P112H;ENSP00000406144:P115H;ENSP00000262675:P84H;ENSP00000397207:P111H;ENSP00000360815:P112H;ENSP00000360812:P111H;ENSP00000262676:P108H;ENSP00000408532:P84H;ENSP00000405803:P111H;ENSP00000388995:P84H;ENSP00000370230:P84H;ENSP00000383830:P115H;ENSP00000434483:P84H;ENSP00000432453:P139H	ENSP00000262675:P84H	P	-	2	0	TTC39A	51550402	1.000000	0.71417	0.518000	0.27811	0.840000	0.47671	2.163000	0.42377	1.729000	0.51567	0.313000	0.20887	CCC	.		0.567	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			T	51777814	G	T	51777814	3	4	22	1	0	0	0	0	1	0	0	0	16756	1232	43	3	1461	3	TTC39A	1	51777814	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	45248608	51777814	197472807	2	2895											
PPM1J	333926	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	113253388	113253388	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr1:113253388G>C	ENST00000309276.6	-	8	1371	c.1196C>G	c.(1195-1197)cCc>cGc	p.P399R	PPM1J_ENST00000359994.4_Missense_Mutation_p.P193R|RP11-426L16.10_ENST00000471038.2_5'UTR|PPM1J_ENST00000464951.1_Missense_Mutation_p.P193R|RP11-426L16.10_ENST00000606505.1_Silent_p.A80A	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	399	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	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)		GGAGAGAAAGGGCTTGATGGG	0.567																																					p.P399R		.											.	.	.	0			c.C1196G						.						117	113	114					1																	113253388		2203	4300	6503	SO:0001583	missense	333926	exon8			AGAAAGGGCTTGA	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1196C>G	1.37:g.113253388G>C	ENSP00000308926:p.Pro399Arg	37	0		96	7	NM_005167	B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	CCDS855.2	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858801	0.71834	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.11277	2.79;2.79	5.17	5.17	0.71159	Protein phosphatase 2C-like (5);	0.053622	0.85682	D	0.000000	T	0.27697	0.0681	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.913;1.0	T	0.03807	-1.1002	10	0.87932	D	0	-6.2262	18.3021	0.90167	0.0:0.0:1.0:0.0	.	399;193	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	R	399;193	ENSP00000308926:P399R;ENSP00000353088:P193R	ENSP00000308926:P399R	P	-	2	0	PPM1J	113054911	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.763000	0.98947	2.432000	0.82394	0.485000	0.47835	CCC	.		0.567	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		C	113253388	G	C	113253388	3	2	22	1	0	0	0	0	1	0	0	0	12384	1232	43	5	333	5	PPM1J	1	113253388	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	61475574	113253388	135997233	3	2896											
AMPD1	270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	115218557	115218557	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr1:115218557C>T	ENST00000520113.2	-	11	1570	c.1555G>A	c.(1555-1557)Gtg>Atg	p.V519M	AMPD1_ENST00000353928.6_Missense_Mutation_p.V486M|AMPD1_ENST00000369538.3_Missense_Mutation_p.V515M			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	519					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)	Adenosine monophosphate(DB00131)	GCCTCAAACACTGGCATGAAA	0.448																																					p.V519M		.											.	.	.	0			c.G1555A						.						143	143	143					1																	115218557		2203	4300	6503	SO:0001583	missense	270	exon11			CAAACACTGGCAT	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1555G>A	1.37:g.115218557C>T	ENSP00000430075:p.Val519Met	83	0		124	39	NM_000036	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919539	0.73098	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.83075	-1.68;-1.68;-1.68	5.58	3.32	0.38043	Adenosine/AMP deaminase (1);	0.120626	0.64402	D	0.000018	T	0.80491	0.4633	L	0.50333	1.59	0.58432	D	0.999998	D;P	0.52996	0.957;0.612	P;P	0.59056	0.851;0.723	T	0.81360	-0.0968	10	0.87932	D	0	-5.344	9.7366	0.40392	0.0:0.8006:0.0:0.1994	.	515;486	Q5TF02;P23109	.;AMPD1_HUMAN	M	519;515;486	ENSP00000430075:V519M;ENSP00000358551:V515M;ENSP00000316520:V486M	ENSP00000316520:V486M	V	-	1	0	AMPD1	115020080	0.116000	0.22171	0.989000	0.46669	0.996000	0.88848	0.704000	0.25661	0.436000	0.26393	0.561000	0.74099	GTG	.		0.448	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			T	115218557	C	T	115218557	3	4	22	1	0	0	0	0	1	0	0	0	585	565	20	3	811	3	AMPD1	1	115218557	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	1965169	115218557	134032064	4	2897											
BCL9	607	broad.mit.edu	37	1	147084715	147084715	+	Silent	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGGTCCGTCCCCCTACAG	0.502			T	"IGH@, IGL@"	B-ALL																																p.R29R				Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	BCL9_ENST00000234739,right_upper_lobe,carcinoma,0,1	BCL9	150	0			c.T87C						.						87	90	89					1																	147084715		2203	4300	6503	SO:0001819	synonymous_variant	607	exon5			GGTCCGTCCCCCT	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.87T>C	1.37:g.147084715T>C		64	0		116	5	NM_004326	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																			.		0.502	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		C	147084715	T	C	147084715	2	2	22	1	0	0	0	0	0	0	0	1	1382	1654	58	4		4	BCL9	1	147084715	Silent	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	31866158	147084715	102165906	5	2898											
OR10X1	128367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	158549641	158549641	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr1:158549641T>A	ENST00000368150.1	-	1	48	c.49A>T	c.(49-51)Acg>Tcg	p.T17S		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (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)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATCTTCATCGTTTGAATGTCT	0.333																																					p.T17S		.											.	.	.	0			c.A49T						.						107	105	106					1																	158549641		2203	4300	6503	SO:0001583	missense	128367	exon1			TCATCGTTTGAAT	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.49A>T	1.37:g.158549641T>A	ENSP00000357132:p.Thr17Ser	31	0		88	8	NM_001004477	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	8.729	0.916285	0.17907	.	.	ENSG00000186400	ENST00000368150	T	0.00245	8.45	4.56	2.15	0.27550	.	0.822976	0.10014	U	0.726818	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10636	-1.0621	10	0.52906	T	0.07	.	8.5585	0.33496	0.0:0.1676:0.0:0.8324	.	17	Q8NGY0	O10X1_HUMAN	S	17	ENSP00000357132:T17S	ENSP00000357132:T17S	T	-	1	0	OR10X1	156816265	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.145000	0.10265	0.319000	0.23209	-0.263000	0.10527	ACG	.		0.333	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		A	158549641	T	A	158549641	3	1	22	1	0	0	0	0	1	0	0	0	10961	1725	60	5	926	5	OR10X1	1	158549641	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	11464926	158549641	90700980	6	2899											
QPCT	25797	hgsc.bcm.edu	37	2	37586829	37586829	+	Missense_Mutation	SNP	G	G	T	rs372851223		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:37586829G>T	ENST00000338415.3	+	3	532	c.374G>T	c.(373-375)aGc>aTc	p.S125I	QPCT_ENST00000537448.1_Missense_Mutation_p.S76I	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	125					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)			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)				AATATCATCAGCACCCTCAAT	0.483																																					p.S125I		.											.	.	.	0			c.G374T						.						115	92	100					2																	37586829		2203	4300	6503	SO:0001583	missense	25797	exon3			TCATCAGCACCCT	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.374G>T	2.37:g.37586829G>T	ENSP00000344829:p.Ser125Ile	46	0		79	3	NM_012413	Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918469	0.52546	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.21191	2.02;2.02;2.02	5.53	4.59	0.56863	.	0.179421	0.64402	D	0.000009	T	0.41811	0.1175	L	0.61036	1.89	0.47737	D	0.9995	D;D	0.71674	0.998;0.996	D;P	0.63877	0.919;0.831	T	0.30880	-0.9963	10	0.72032	D	0.01	-10.198	15.8291	0.78739	0.0:0.1359:0.8641:0.0	.	76;125	Q16769-2;Q16769	.;QPCT_HUMAN	I	125;76;76	ENSP00000344829:S125I;ENSP00000385391:S76I;ENSP00000441606:S76I	ENSP00000344829:S125I	S	+	2	0	QPCT	37440333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.836000	0.69375	2.587000	0.87381	0.655000	0.94253	AGC	.		0.483	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			T	37586829	G	T	37586829	3	4	22	1	0	0	0	0	1	0	0	0	12919	971	34	3	384	3	QPCT	2	37586829	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		37586829	205612544	7	2900											
TET3	200424	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	74327840	74327840	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:74327840A>T	ENST00000409262.3	+	9	3520	c.3520A>T	c.(3520-3522)Agt>Tgt	p.S1174C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1174					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						CTGGGGGCACAGTGGCAGCAG	0.602																																					p.S1174C		.											.	.	.	0			c.A3520T						.						45	48	47					2																	74327840		2084	4199	6283	SO:0001583	missense	200424	exon9			GGGCACAGTGGCA		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.3520A>T	2.37:g.74327840A>T	ENSP00000386869:p.Ser1174Cys	24	0		33	8	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427815	0.43122	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.12465	2.68	5.44	-4.17	0.03857	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.722243	0.13950	N	0.351632	T	0.10852	0.0265	L	0.29908	0.895	0.09310	N	1	P	0.49783	0.928	P	0.46758	0.526	T	0.21861	-1.0233	10	0.54805	T	0.06	.	9.3813	0.38316	0.3425:0.1201:0.5375:0.0	.	1174	O43151	TET3_HUMAN	C	1174	ENSP00000386869:S1174C	ENSP00000233310:S1174C	S	+	1	0	TET3	74181348	0.000000	0.05858	0.405000	0.26409	0.964000	0.63967	-0.011000	0.12721	-0.276000	0.09206	0.533000	0.62120	AGT	.		0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74327840	A	T	74327840	3	4	22	1	0	0	0	0	1	0	0	0	15818	188	7	5	3554	5	TET3	2	74327840	Missense_Mutation	SNP	A	TCGA-W5-AA34-01A-11D-A417-09	36741011	74327840	168871533	8	2901											
IMP4	92856	hgsc.bcm.edu	37	2	131103674	131103674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:131103674C>A	ENST00000259239.3	+	7	1386	c.678C>A	c.(676-678)taC>taA	p.Y226*	IMP4_ENST00000409935.1_Nonsense_Mutation_p.Y226*	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	226	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)					AGGACGACTACATATCATTCC	0.587																																					p.Y226X		.											IMP4,colon,carcinoma,+2,2	IMP4	+2	0			c.C678A						.						116	113	114					2																	131103674		2203	4300	6503	SO:0001587	stop_gained	92856	exon7			CGACTACATATCA	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.678C>A	2.37:g.131103674C>A	ENSP00000259239:p.Tyr226*	31	0		42	2	NM_033416	Q3ZTT3	Nonsense_Mutation	SNP	ENST00000259239.3	37	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.647995|9.647995	0.99229|0.99229	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000452955|ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	.|.	.|.	.|.	5.74|5.74	1.11|1.11	0.20524|0.20524	.|.	.|0.109673	.|0.64402	.|D	.|0.000005	T|.	0.16896|.	0.0406|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38887|.	-0.9640|.	3|.	.|0.02654	.|T	.|1	-31.0834|-31.0834	8.0784|8.0784	0.30731|0.30731	0.0:0.4894:0.0:0.5106|0.0:0.4894:0.0:0.5106	.|.	.|.	.|.	.|.	K|X	215|226;226;141;171	.|.	.|ENSP00000259239:Y226X	T|Y	+|+	2|3	0|2	IMP4|IMP4	130820144|130820144	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	0.310000|0.310000	0.19356|0.19356	0.212000|0.212000	0.20703|0.20703	0.655000|0.655000	0.94253|0.94253	ACA|TAC	.		0.587	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		A	131103674	C	A	131103674	4	1	22	1	0	0	0	0	0	1	0	0	7747	489	17	3	704	3	IMP4	2	131103674	Nonsense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	56775834	131103674	112095699	9	2902											
ACVR1C	130399	hgsc.bcm.edu	37	2	158443750	158443750	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:158443750C>T	ENST00000243349.8	-	2	613	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ACVR1C_ENST00000335450.7_Missense_Mutation_p.E85K|ACVR1C_ENST00000348328.5_Missense_Mutation_p.E85K|ACVR1C_ENST00000409680.3_Missense_Mutation_p.E35K	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						AAGCAGCATTCGGTTTTGGTA	0.403																																					p.E85K		.											.	.	.	0			c.G253A						.						239	226	230					2																	158443750		2203	4300	6503	SO:0001583	missense	130399	exon2			AGCATTCGGTTTT	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.253G>A	2.37:g.158443750C>T	ENSP00000243349:p.Glu85Lys	54	0		94	4	NM_145259		Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904139	0.72754	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;D;D	0.90133	0.42;0.42;-2.62;-2.62	5.55	5.55	0.83447	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.56097	D	0.000038	D	0.88851	0.6549	M	0.76727	2.345	0.26600	N	0.973046	P;P;B	0.41313	0.745;0.745;0.057	B;B;B	0.28465	0.09;0.09;0.066	D	0.83937	0.0309	10	0.37606	T	0.19	.	19.5066	0.95118	0.0:1.0:0.0:0.0	.	85;85;85	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	K	85;35;85;85	ENSP00000243349:E85K;ENSP00000387168:E35K;ENSP00000335139:E85K;ENSP00000335178:E85K	ENSP00000243349:E85K	E	-	1	0	ACVR1C	158151996	0.997000	0.39634	0.954000	0.39281	0.788000	0.44548	3.425000	0.52771	2.628000	0.89032	0.650000	0.86243	GAA	.		0.403	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		T	158443750	C	T	158443750	3	4	22	1	0	0	0	0	1	0	0	0	222	893	31	1	1260	1	ACVR1C	2	158443750	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	27340076	158443750	84755623	10	2903											
HOXD9	3235	hgsc.bcm.edu	37	2	176988290	176988290	+	Missense_Mutation	SNP	C	C	A	rs200417886|rs529626130|rs397814627|rs56007470|rs559323002	byFrequency	TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:176988290C>A	ENST00000249499.6	+	1	1203	c.794C>A	c.(793-795)cCg>cAg	p.P265Q	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	265					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)		CATTCGCAGCCGCAGCAGCAG	0.557																																					p.P265Q	GBM(47;924 952 7959 9248 12176)	.											.,4	.	49	0			c.C794A						.						17	17	17					2																	176988290		2189	4254	6443	SO:0001583	missense	3235	exon1			CGCAGCCGCAGCA		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.794C>A	2.37:g.176988290C>A	ENSP00000249499:p.Pro265Gln	12	0		22	2	NM_014213	Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	4.351	0.064680	0.08388	.	.	ENSG00000128709	ENST00000249499	D	0.94457	-3.43	4.69	3.66	0.41972	Homeodomain-related (1);Homeodomain-like (1);	2.510250	0.01516	N	0.018178	D	0.93086	0.7799	M	0.64997	1.995	0.27793	N	0.942765	B	0.21381	0.055	B	0.10450	0.005	T	0.78687	-0.2107	10	0.25106	T	0.35	.	9.2906	0.37784	0.3607:0.6393:0.0:0.0	.	265	P28356	HXD9_HUMAN	Q	265	ENSP00000249499:P265Q	ENSP00000249499:P265Q	P	+	2	0	HOXD9	176696536	.	.	0.937000	0.37676	0.889000	0.51656	.	.	2.300000	0.77407	0.555000	0.69702	CCG	.		0.557	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			A	176988290	C	A	176988290	3	1	22	1	0	0	0	0	1	0	0	0	7353	652	23	2	796	2	HOXD9	2	176988290	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	18544540	176988290	66211083	11	2904											
TTN	7273	broad.mit.edu	37	2	179453444	179453444	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:179453444T>C	ENST00000591111.1	-	254	58309	c.58085A>G	c.(58084-58086)aAg>aGg	p.K19362R	TTN_ENST00000342992.6_Missense_Mutation_p.K18435R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K12063R|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K12130R|TTN_ENST00000460472.2_Missense_Mutation_p.K11938R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K21003R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19362	Fibronectin type-III 40. {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)			ATGCTTTTCCTTTTTCTCCAA	0.418																																					p.K21003R													.	TTN	18412	0			c.A63008G						.						141	132	135					2																	179453444		1896	4119	6015	SO:0001583	missense	7273	exon304			TTTTCCTTTTTCT	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.58085A>G	2.37:g.179453444T>C	ENSP00000465570:p.Lys19362Arg	45	0		66	3	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	14.60	2.583411	0.46006	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.1	6.1	0.99115	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51719	0.1691	N	0.03000	-0.44	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.67864	-0.5560	9	0.87932	D	0	.	16.686	0.85306	0.0:0.0:0.0:1.0	.	11938;12063;12130;19362	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	18435;11938;12130;12063;11936	ENSP00000343764:K18435R;ENSP00000434586:K11938R;ENSP00000340554:K12130R;ENSP00000352154:K12063R	ENSP00000340554:K12130R	K	-	2	0	TTN	179161690	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.186000	0.72026	2.340000	0.79590	0.528000	0.53228	AAG	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179453444	T	C	179453444	3	2	22	1	0	0	0	0	1	0	0	0	16784	1609	56	4	45207	4	TTN	2	179453444	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	2465154	179453444	63745929	12	2905											
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																p.R132C	Pancreas(158;264 1958 3300 35450 36047)	.		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	IDH1,NS,haematopoietic_neoplasm,0,788	IDH1	0	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	c.C394T						.						81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417	exon4			CATGACGACCTAT		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	40	0		54	25	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	.		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			A	209113113	G	A	209113113	3	1	22	1	0	0	0	0	1	0	0	0	7521	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	29659669	209113113	34086260	13	2906											
OR6B3	150681	hgsc.bcm.edu;broad.mit.edu	37	2	240984497	240984497	+	Silent	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr2:240984497G>T	ENST00000319423.4	-	1	992	c.993C>A	c.(991-993)ctC>ctA	p.L331L	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	331						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)		GGCCTCCTCAGAGAGGCTGGC	0.423																																					p.L331L		.											.	.	.	0			c.C993A						.						68	69	69					2																	240984497		1831	4091	5922	SO:0001819	synonymous_variant	150681	exon1			TCCTCAGAGAGGC		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.993C>A	2.37:g.240984497G>T		88	0		100	4	NM_173351	Q6IFH3	Silent	SNP	ENST00000319423.4	37	CCDS42837.1																																																																																			.		0.423	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			T	240984497	G	T	240984497	2	4	22	1	0	0	0	0	0	0	0	1	11228	929	33	3		3	OR6B3	2	240984497	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	31871384	240984497	2214876	14	2907											
HYAL3	8372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	50332983	50332983	+	Silent	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr3:50332983C>T	ENST00000336307.1	-	2	323	c.51G>A	c.(49-51)ctG>ctA	p.L17L	HYAL3_ENST00000450982.1_Silent_p.L17L|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000436390.1_5'Flank|HYAL3_ENST00000359051.3_Silent_p.L17L|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	17					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)		GGCCACAACCCAGGCACAGGG	0.627																																					p.L17L		.											.	.	.	0			c.G51A						.						28	29	29					3																	50332983		2152	4159	6311	SO:0001819	synonymous_variant	8372	exon2			ACAACCCAGGCAC	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.51G>A	3.37:g.50332983C>T		29	0		13	9	NM_001200030	O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	ENST00000336307.1	37	CCDS2815.1																																																																																			.		0.627	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		T	50332983	C	T	50332983	2	4	22	1	0	0	0	0	0	0	0	1	7492	581	21	3		3	HYAL3	3	50332983	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		50332983	147689447	15	2908											
RAD54L2	23132	hgsc.bcm.edu	37	3	51675865	51675865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr3:51675865C>T	ENST00000409535.2	+	14	2457	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.R472*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	778	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAAGTGGGTTCGAAACATCAG	0.493																																					p.R778X		.											RAD54L2,NS,carcinoma,0,1	RAD54L2	0	0			c.C2332T						.						198	143	162					3																	51675865		2203	4299	6502	SO:0001587	stop_gained	23132	exon14			TGGGTTCGAAACA	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2332C>T	3.37:g.51675865C>T	ENSP00000386520:p.Arg778*	36	0		48	2	NM_015106	Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	41|41	9.125044|9.125044	0.99073|0.99073	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	.|.	.|.	.|.	5.96|5.96	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71443	.|0.3340	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74309	.|-0.3707	.|3	0.02654|.	T|.	1|.	-6.082|-6.082	15.9017|15.9017	0.79384|0.79384	0.1363:0.8636:0.0:0.0|0.1363:0.8636:0.0:0.0	.|.	.|.	.|.	.|.	X|L	778;472|606	.|.	ENSP00000296477:R472X|.	R|S	+|+	1|2	2|0	RAD54L2|RAD54L2	51650905|51650905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	4.497000|4.497000	0.60367|0.60367	1.549000|1.549000	0.49425|0.49425	-0.121000|-0.121000	0.15023|0.15023	CGA|TCG	.		0.493	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51675865	C	T	51675865	4	4	22	1	0	0	0	0	0	1	0	0	13039	876	31	1	2382	1	RAD54L2	3	51675865	Nonsense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	1342882	51675865	146346565	16	2909											
SLC25A26	115286	hgsc.bcm.edu	37	3	66293723	66293723	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr3:66293723C>A	ENST00000413054.1	+	1	97	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	SLC25A26_ENST00000354883.6_Missense_Mutation_p.S96Y|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.S8Y			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	96					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.S96F(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)		TTGGCTGCCTCTGCTGGAGAA	0.318																																					p.S96Y		.											SLC25A26,bladder,carcinoma,0,1	SLC25A26	0	1	Substitution - Missense(1)	urinary_tract(1)	c.C287A						.						130	131	131					3																	66293723		2203	4300	6503	SO:0001583	missense	115286	exon4			CTGCCTCTGCTGG	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	ENST00000413054.1:c.23C>A	3.37:g.66293723C>A	ENSP00000415304:p.Ser8Tyr	19	0		27	2	NM_173471	A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	ENST00000413054.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.405184|4.405184	0.83230|0.83230	.|.	.|.	ENSG00000144741|ENSG00000144741	ENST00000413054|ENST00000354883;ENST00000336733	.|T;T	.|0.80033	.|-1.33;-1.33	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Mitochondrial carrier domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92747|0.92747	0.7694|0.7694	H|H	0.95679|0.95679	3.705|3.705	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58970	.|0.984;0.978	.|P;D	.|0.63033	.|0.88;0.91	D|D	0.93989|0.93989	0.7265|0.7265	5|10	.|0.66056	.|D	.|0.02	-18.1295|-18.1295	20.051|20.051	0.97627|0.97627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|96;96	.|F8WAB8;Q70HW3	.|.;SAMC_HUMAN	M|Y	33|96;8	.|ENSP00000346955:S96Y;ENSP00000336801:S8Y	.|ENSP00000336801:S8Y	L|S	+|+	1|2	2|0	SLC25A26|SLC25A26	66376414|66376414	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.920000|0.920000	0.55202|0.55202	5.949000|5.949000	0.70257|0.70257	2.740000|2.740000	0.93945|0.93945	0.650000|0.650000	0.86243|0.86243	CTG|TCT	.		0.318	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	NM_173471		A	66293723	C	A	66293723	3	1	22	1	0	0	0	0	1	0	0	0	14534	913	32	3	99	3	SLC25A26	3	66293723	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	14617858	66293723	131728707	17	2910											
FAM55C	91775	hgsc.bcm.edu	37	3	101535686	101535686	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr3:101535686G>T	ENST00000491511.2	+	7	1926	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W	NXPE3_ENST00000273347.5_Missense_Mutation_p.G324W|NXPE3_ENST00000422132.1_Missense_Mutation_p.G324W|NXPE3_ENST00000477909.1_Missense_Mutation_p.G324W	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	324						extracellular region (GO:0005576)											TTTTCCTTCTGGGTATTATTA	0.358																																					p.G324W		.											.	.	.	0			c.G970T						.						73	76	75					3																	101535686		2203	4300	6503	SO:0001583	missense	91775	exon7			CCTTCTGGGTATT	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.970G>T	3.37:g.101535686G>T	ENSP00000417485:p.Gly324Trp	57	0		92	4	NM_145037	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.007193	0.93287	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80892	-0.1179	10	0.87932	D	0	-15.5128	20.5632	0.99335	0.0:0.0:1.0:0.0	.	324	Q969Y0	FA55C_HUMAN	W	324	ENSP00000273347:G324W;ENSP00000417485:G324W;ENSP00000418369:G324W;ENSP00000396421:G324W	ENSP00000273347:G324W	G	+	1	0	FAM55C	103018376	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	9.772000	0.98984	2.937000	0.99478	0.650000	0.86243	GGG	.		0.358	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		T	101535686	G	T	101535686	3	4	22	1	0	0	0	0	1	0	0	0	5608	1348	47	3	984	3	FAM55C	3	101535686	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	35241963	101535686	96486744	18	2911											
MYNN	55892	hgsc.bcm.edu	37	3	169504301	169504301	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr3:169504301G>T	ENST00000349841.5	+	8	2331	c.1668G>T	c.(1666-1668)aaG>aaT	p.K556N	MYNN_ENST00000544106.1_Missense_Mutation_p.K527N|MYNN_ENST00000356716.4_Missense_Mutation_p.K556N	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	556					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(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGGATGTGAAGCCTTCTGATA	0.423																																					p.K556N		.											MYNN,upper_leg,malignant_melanoma,0,1	MYNN	0	0			c.G1668T						.						146	142	143					3																	169504301		2203	4300	6503	SO:0001583	missense	55892	exon9			TGTGAAGCCTTCT	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1668G>T	3.37:g.169504301G>T	ENSP00000326240:p.Lys556Asn	35	0		52	2	NM_001185118	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032630	0.54790	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000544106	T;T;T	0.10477	3.05;3.05;2.87	5.25	-6.46	0.01908	.	0.000000	0.64402	D	0.000001	T	0.16514	0.0397	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.981	D;D	0.85130	0.997;0.95	T	0.00405	-1.1760	10	0.87932	D	0	.	16.1493	0.81602	0.6681:0.0:0.3319:0.0	.	527;556	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	N	556;556;527	ENSP00000349150:K556N;ENSP00000326240:K556N;ENSP00000440637:K527N	ENSP00000326240:K556N	K	+	3	2	MYNN	170986995	0.948000	0.32251	0.791000	0.31998	0.840000	0.47671	-0.102000	0.10956	-1.327000	0.02264	-0.424000	0.05967	AAG	.		0.423	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		T	169504301	G	T	169504301	3	4	22	1	0	0	0	0	1	0	0	0	10099	962	34	3	1694	3	MYNN	3	169504301	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	67968615	169504301	28518129	19	2912											
DNAJC19	131118	hgsc.bcm.edu	37	3	180702477	180702477	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr3:180702477G>T	ENST00000382564.2	-	6	472	c.302C>A	c.(301-303)gCc>gAc	p.A101D	DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.A76D|DNAJC19_ENST00000491873.1_Missense_Mutation_p.A76D	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	101	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			ATTGATTTTGGCTGCTATATA	0.303																																					p.A101D		.											.	.	.	0			c.C302A						.						51	49	50					3																	180702477		2198	4289	6487	SO:0001583	missense	131118	exon6			ATTTTGGCTGCTA		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"Heat shock proteins / DNAJ (HSP40)"	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.302C>A	3.37:g.180702477G>T	ENSP00000372005:p.Ala101Asp	24	0		69	4	NM_145261	B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167213	0.94768	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	T;T;T	0.31247	1.5;1.5;1.5	5.97	5.97	0.96955	Heat shock protein DnaJ, N-terminal (5);	0.195142	0.53938	D	0.000048	T	0.51160	0.1658	L	0.56199	1.76	0.80722	D	1	D	0.60575	0.988	D	0.63283	0.913	T	0.46034	-0.9220	10	0.87932	D	0	-1.931	18.6193	0.91316	0.0:0.0:1.0:0.0	.	101	Q96DA6	TIM14_HUMAN	D	101;76;76	ENSP00000372005:A101D;ENSP00000420767:A76D;ENSP00000419191:A76D	ENSP00000372005:A101D	A	-	2	0	DNAJC19	182185171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.836000	0.97738	0.655000	0.94253	GCC	.		0.303	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		T	180702477	G	T	180702477	3	4	22	1	0	0	0	0	1	0	0	0	4652	1203	42	3	52	3	DNAJC19	3	180702477	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	11198176	180702477	17319953	20	2913											
LRCH3	84859	bcgsc.ca	37	3	197547212	197547212	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr3:197547212A>G	ENST00000425562.2	+	4	551	c.551A>G	c.(550-552)gAa>gGa	p.E184G	LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000438796.2_Missense_Mutation_p.E184G|LRCH3_ENST00000493726.1_3'UTR|LRCH3_ENST00000334859.4_Missense_Mutation_p.E184G|LRCH3_ENST00000414675.2_Missense_Mutation_p.E184G			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	184						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)		AGCTGCAATGAAATTCAAACT	0.333																																					p.E184G													.	LRCH3	96	0			c.A551G						.						103	103	103					3																	197547212		2203	4300	6503	SO:0001583	missense	84859	exon4			GCAATGAAATTCA	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.551A>G	3.37:g.197547212A>G	ENSP00000393579:p.Glu184Gly	74	2		156	60	NM_032773	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	A	12.27	1.887924	0.33348	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.994;0.999;0.979	T	0.70163	-0.4947	10	0.87932	D	0	-18.6597	15.5125	0.75795	1.0:0.0:0.0:0.0	.	184;184;184	B4E0T7;Q96II8-2;Q96II8-3	.;.;.	G	184	ENSP00000399751:E184G;ENSP00000394965:E184G;ENSP00000334375:E184G;ENSP00000393579:E184G	ENSP00000334375:E184G	E	+	2	0	LRCH3	199031609	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.683000	0.91236	2.137000	0.66172	0.454000	0.30748	GAA	.		0.333	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		G	197547212	A	G	197547212	3	3	22	1	0	0	0	0	1	0	0	0	8969	246	9	4	565	4	LRCH3	3	197547212	Missense_Mutation	SNP	A	TCGA-W5-AA34-01A-11D-A417-09	16844735	197547212	475218	21	2914											
HTT	3064	hgsc.bcm.edu	37	4	3076659	3076659	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:3076659A>C	ENST00000355072.5	+	1	252	c.107A>C	c.(106-108)cAg>cCg	p.Q36P	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				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)		cagcagcagcagcaacagccg	0.706																																					p.Q36P		.											.	.	.	0			c.A107C						.						1	2	2					4																	3076659		405	1354	1759	SO:0001583	missense	3064	exon1			AGCAGCAGCAACA	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.107A>C	4.37:g.3076659A>C	ENSP00000347184:p.Gln36Pro	7	0		16	4	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	-	0.013	-1.614452	0.00835	.	.	ENSG00000197386	ENST00000355072	T	0.20738	2.05	0.538	-0.648	0.11464	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	8	0.30078	T	0.28	.	.	.	.	.	36	P42858	HD_HUMAN	P	36	ENSP00000347184:Q36P	ENSP00000347184:Q36P	Q	+	2	0	HTT	3046457	0.992000	0.36948	0.001000	0.08648	0.032000	0.12392	0.173000	0.16724	-0.308000	0.08792	0.138000	0.15974	CAG	.		0.706	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		C	3076659	A	C	3076659	3	2	22	1	0	0	0	0	1	0	0	0	7484	188	7	4	109	4	HTT	4	3076659	Missense_Mutation	SNP	A	TCGA-W5-AA34-01A-11D-A417-09		3076659	188077617	22	2915											
OTOP1	133060	hgsc.bcm.edu	37	4	4204211	4204211	+	Missense_Mutation	SNP	G	G	A	rs200612216		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:4204211G>A	ENST00000296358.4	-	4	718	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	232					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)		p.R232W(2)		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)		GTGATGAGCCGTTCCTTGTGC	0.507																																					p.R232W		.											OTOP1,NS,carcinoma,0,3	OTOP1	0	2	Substitution - Missense(2)	prostate(1)|liver(1)	c.C694T						.						144	123	130					4																	4204211		2203	4300	6503	SO:0001583	missense	133060	exon4			TGAGCCGTTCCTT	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.694C>T	4.37:g.4204211G>A	ENSP00000296358:p.Arg232Trp	24	0		49	5	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781817	0.31502	.	.	ENSG00000163982	ENST00000296358	T	0.09817	2.94	5.28	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.14661	0.345	0.80722	D	1	P	0.35328	0.495	B	0.32583	0.148	T	0.26224	-1.0109	10	0.72032	D	0.01	.	10.6877	0.45852	0.0:0.0:0.5681:0.4319	.	232	Q7RTM1	OTOP1_HUMAN	W	232	ENSP00000296358:R232W	ENSP00000296358:R232W	R	-	1	2	OTOP1	4255112	1.000000	0.71417	0.547000	0.28179	0.267000	0.26476	2.487000	0.45268	2.462000	0.83206	0.603000	0.83216	CGG	.		0.507	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		A	4204211	G	A	4204211	3	1	22	1	0	0	0	0	1	0	0	0	11344	1144	40	1	1156	1	OTOP1	4	4204211	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	1127552	4204211	186950065	23	2916											
LRRC66	339977	hgsc.bcm.edu	37	4	52860592	52860592	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:52860592G>T	ENST00000343457.3	-	4	2602	c.2596C>A	c.(2596-2598)Cct>Act	p.P866T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	866						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						GCCTTATCAGGATCTGAGGGA	0.368																																					p.P866T		.											.	.	.	0			c.C2596A						.						87	81	83					4																	52860592		1865	4104	5969	SO:0001583	missense	339977	exon4			TATCAGGATCTGA	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.2596C>A	4.37:g.52860592G>T	ENSP00000341944:p.Pro866Thr	53	0		99	4	NM_001024611		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684109	0.14907	.	.	ENSG00000188993	ENST00000343457	T	0.35421	1.31	4.67	-0.515	0.11954	.	0.432066	0.20056	N	0.100195	T	0.21841	0.0526	L	0.36672	1.1	0.09310	N	1	B	0.27997	0.197	B	0.24269	0.052	T	0.14531	-1.0469	10	0.87932	D	0	-2.2637	3.9782	0.09484	0.1861:0.0:0.3346:0.4793	.	866	Q68CR7	LRC66_HUMAN	T	866	ENSP00000341944:P866T	ENSP00000341944:P866T	P	-	1	0	LRRC66	52555349	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	-0.129000	0.10515	0.018000	0.15052	0.655000	0.94253	CCT	.		0.368	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		T	52860592	G	T	52860592	3	4	22	1	0	0	0	0	1	0	0	0	9053	1174	41	3	50	3	LRRC66	4	52860592	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	48656381	52860592	138293684	24	2917											
IGJ	3512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	71522073	71522073	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:71522073T>G	ENST00000254801.4	-	4	622	c.453A>C	c.(451-453)ttA>ttC	p.L151F	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Missense_Mutation_p.L167F	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	151					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)			CATCTGGGGTTAAGGCTGTTT	0.438																																					p.L151F		.											.	.	.	0			c.A453C						.						138	116	124					4																	71522073		2203	4300	6503	SO:0001583	missense	3512	exon4			TGGGGTTAAGGCT	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.453A>C	4.37:g.71522073T>G	ENSP00000254801:p.Leu151Phe	49	0		71	18	NM_144646		Missense_Mutation	SNP	ENST00000254801.4	37	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730225	0.48939	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780	.	.	.	6.17	3.5	0.40072	.	0.000000	0.49916	D	0.000126	T	0.56396	0.1982	L	0.36672	1.1	0.36699	D	0.880026	D	0.89917	1.0	D	0.91635	0.999	T	0.61749	-0.6999	9	0.87932	D	0	.	3.6854	0.08326	0.1365:0.5854:0.1321:0.1461	.	151	P01591	IGJ_HUMAN	F	151;151;167	.	ENSP00000254801:L151F	L	-	3	2	IGJ	71740937	0.997000	0.39634	0.452000	0.26994	0.176000	0.22953	0.476000	0.22180	0.459000	0.27016	-0.242000	0.12053	TTA	.		0.438	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		G	71522073	T	G	71522073	3	3	22	1	0	0	0	0	1	0	0	0	7619	1751	61	4	30	4	IGJ	4	71522073	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	18661481	71522073	119632203	25	2918											
ANKRD17	26057	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	73962894	73962894	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:73962894G>T	ENST00000358602.4	-	27	5233	c.5117C>A	c.(5116-5118)aCa>aAa	p.T1706K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1455K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1593K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1706					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)			ACTTGCTACTGTTAACTTCCC	0.378																																					p.T1706K		.											.	.	.	0			c.C5117A						.						240	240	240					4																	73962894		2203	4300	6503	SO:0001583	missense	26057	exon27			GCTACTGTTAACT	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.5117C>A	4.37:g.73962894G>T	ENSP00000351416:p.Thr1706Lys	60	0		88	4	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611952	0.87258	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.21734	1.99;1.99;1.99	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000004	T	0.24928	0.0605	L	0.40543	1.245	0.40229	D	0.977827	P;P;P;P	0.42518	0.782;0.782;0.675;0.675	B;B;B;B	0.41174	0.349;0.349;0.19;0.19	T	0.01574	-1.1321	10	0.72032	D	0.01	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	1705;1455;1706;1593	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	1706;1113;1455;1593;90	ENSP00000351416:T1706K;ENSP00000332265:T1455K;ENSP00000427151:T1593K	ENSP00000332265:T1455K	T	-	2	0	ANKRD17	74181758	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.223000	0.65283	2.761000	0.94854	0.655000	0.94253	ACA	.		0.378	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73962894	G	T	73962894	3	4	22	1	0	0	0	0	1	0	0	0	646	1377	48	3	2726	3	ANKRD17	4	73962894	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	2440821	73962894	117191382	26	2919											
C4orf17	84103	hgsc.bcm.edu	37	4	100460497	100460497	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:100460497C>A	ENST00000326581.4	+	7	1168	c.806C>A	c.(805-807)aCc>aAc	p.T269N	C4orf17_ENST00000514652.1_Missense_Mutation_p.T269N	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	269										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)		AAAGTGCTGACCAGAGATACA	0.448																																					p.T269N		.											C4orf17,NS,carcinoma,0,1	C4orf17	0	0			c.C806A						.						80	82	81					4																	100460497		2203	4300	6503	SO:0001583	missense	84103	exon7			TGCTGACCAGAGA	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.806C>A	4.37:g.100460497C>A	ENSP00000322582:p.Thr269Asn	23	0		31	2	NM_032149	Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436123	0.25813	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18960	2.18;2.18	5.03	1.15	0.20763	.	0.945349	0.08836	N	0.886494	T	0.20455	0.0492	L	0.60455	1.87	0.09310	N	1	P	0.43701	0.815	B	0.43251	0.413	T	0.18366	-1.0339	10	0.22706	T	0.39	0.3243	3.848	0.08943	0.1572:0.4511:0.3051:0.0866	.	269	Q53FE4	CD017_HUMAN	N	269	ENSP00000322582:T269N;ENSP00000427663:T269N	ENSP00000322582:T269N	T	+	2	0	C4orf17	100679520	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.224000	0.17738	0.060000	0.16281	-0.165000	0.13383	ACC	.		0.448	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		A	100460497	C	A	100460497	3	1	22	1	0	0	0	0	1	0	0	0	2259	507	18	3	828	3	C4orf17	4	100460497	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	26497603	100460497	90693779	27	2920											
INTS12	57117	hgsc.bcm.edu	37	4	106614585	106614585	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:106614585G>T	ENST00000451321.2	-	4	847	c.368C>A	c.(367-369)cCa>cAa	p.P123Q	INTS12_ENST00000394735.1_Missense_Mutation_p.P123Q|INTS12_ENST00000340139.5_Missense_Mutation_p.P123Q	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	123					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)		CTGTGTTTCTGGTTTCTCCAA	0.393																																					p.P123Q		.											.	.	.	0			c.C368A						.						242	246	245					4																	106614585		2203	4300	6503	SO:0001583	missense	57117	exon5			GTTTCTGGTTTCT		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.368C>A	4.37:g.106614585G>T	ENSP00000415433:p.Pro123Gln	61	0		100	4	NM_020395	B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566145	0.27915	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746;ENST00000420368	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.93	5.02	0.67125	.	0.486270	0.24287	N	0.039851	T	0.19287	0.0463	N	0.01576	-0.805	0.28182	N	0.928115	B	0.10296	0.003	B	0.06405	0.002	T	0.03514	-1.1029	10	0.16420	T	0.52	-6.9692	18.0153	0.89238	0.0:0.0:0.8454:0.1546	.	123	Q96CB8	INT12_HUMAN	Q	123	ENSP00000378221:P123Q;ENSP00000340737:P123Q;ENSP00000415433:P123Q;ENSP00000423618:P123Q;ENSP00000412317:P123Q	ENSP00000340737:P123Q	P	-	2	0	INTS12	106834034	1.000000	0.71417	0.961000	0.40146	0.971000	0.66376	1.336000	0.33850	2.814000	0.96858	0.591000	0.81541	CCA	.		0.393	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		T	106614585	G	T	106614585	3	4	22	1	0	0	0	0	1	0	0	0	7804	1348	47	3	1036	3	INTS12	4	106614585	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	6154088	106614585	84539691	28	2921											
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	123274248	123274248	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:123274248T>C	ENST00000264501.4	+	81	14412	c.14039T>C	c.(14038-14040)cTt>cCt	p.L4680P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L4680P			Q2LD37	K1109_HUMAN	KIAA1109	4680					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						TCTTGGGCCCTTTTTCATTTA	0.373																																					p.L4680P		.											.	.	.	0			c.T14039C						.						90	83	85					4																	123274248		1832	4082	5914	SO:0001583	missense	84162	exon79			GGGCCCTTTTTCA	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.14039T>C	4.37:g.123274248T>C	ENSP00000264501:p.Leu4680Pro	33	0		73	4	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.966302|3.966302	0.74131|0.74131	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.57436	.|0.4;0.4;0.4	5.83|5.83	4.66|4.66	0.58398|0.58398	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52725|0.52725	0.1752|0.1752	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18013	.|0.015;0.025	.|B;B	.|0.20184	.|0.011;0.028	T|T	0.53358|0.53358	-0.8450|-0.8450	5|10	.|0.87932	.|D	.|0	.|.	11.6639|11.6639	0.51363|0.51363	0.0:0.069:0.0:0.931|0.0:0.069:0.0:0.931	.|.	.|4679;4680	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	L|P	1056|4680;4680;1349;281	.|ENSP00000264501:L4680P;ENSP00000373390:L4680P;ENSP00000410874:L1349P	.|ENSP00000264501:L4680P	F|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123493698|123493698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.295000|6.295000	0.72744|0.72744	1.053000|1.053000	0.40415|0.40415	0.477000|0.477000	0.44152|0.44152	TTT|CTT	.		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123274248	T	C	123274248	3	2	22	1	0	0	0	0	1	0	0	0	8235	1609	56	4	14353	4	KIAA1109	4	123274248	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	16659663	123274248	67880028	29	2922											
SMARCA5	8467	broad.mit.edu	37	4	144474311	144474311	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:144474311G>T	ENST00000283131.3	+	24	3595	c.3133G>T	c.(3133-3135)Gga>Tga	p.G1045*	RP11-481K16.2_ENST00000512366.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	1045					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)					TGATGGTCGAGGAAGAAAAAA	0.333																																					p.G1045X													.	SMARCA5	73	0			c.G3133T						.						140	146	144					4																	144474311		2203	4300	6503	SO:0001587	stop_gained	8467	exon24			GGTCGAGGAAGAA	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.3133G>T	4.37:g.144474311G>T	ENSP00000283131:p.Gly1045*	61	0		118	4	NM_003601		Nonsense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	45	11.499046	0.99568	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	.	.	.	5.68	5.68	0.88126	.	0.147419	0.45361	D	0.000378	.	.	.	.	.	.	0.51482	D	0.999929	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.6025	17.9608	0.89084	0.0:0.0:1.0:0.0	.	.	.	.	X	1045;988;988	.	ENSP00000283131:G1045X	G	+	1	0	SMARCA5	144693761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.588000	0.98232	2.686000	0.91538	0.555000	0.69702	GGA	.		0.333	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			T	144474311	G	T	144474311	4	4	22	1	0	0	0	0	0	1	0	0	14816	1001	35	3	3227	3	SMARCA5	4	144474311	Nonsense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	21200063	144474311	46679965	30	2923											
NAF1	92345	bcgsc.ca	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				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)				ggggagggggtgggggtaggg	0.522																																					p.P470P													.	NAF1	69	0			c.A1410C						.						10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345	exon8			AGGGGGTGGGGGT		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.1410A>C	4.37:g.164050124T>G		36	1		52	21	NM_138386	D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	CCDS3803.1																																																																																			.		0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		G	164050124	T	G	164050124	2	3	22	1	0	0	0	0	0	0	0	1	10178	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	19575813	164050124	27104152	31	2924											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu	37	4	187525601	187525601	+	Missense_Mutation	SNP	G	G	A	rs200357548		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr4:187525601G>A	ENST00000441802.2	-	18	10687	c.10478C>T	c.(10477-10479)cCg>cTg	p.P3493L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3493	Cadherin 32. {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						GACTCCTTGCGGGTTAACTTC	0.438										HNSCC(5;0.00058)																											p.P3493L	Colon(197;1040 2055 4143 4984 49344)	.											FAT1,bladder,carcinoma,+1,2	FAT1	+1	0			c.C10478T						.	G	LEU/PRO	1,3843		0,1,1921	105	102	103		10478	4	1	4		103	8,8254		0,8,4123	yes	missense	FAT1	NM_005245.3	98	0,9,6044	AA,AG,GG		0.0968,0.026,0.0743	benign	3493/4589	187525601	9,12097	1922	4131	6053	SO:0001583	missense	2195	exon18			CCTTGCGGGTTAA	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.10478C>T	4.37:g.187525601G>A	ENSP00000406229:p.Pro3493Leu	59	0		92	4	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102719	0.20632	2.6E-4	9.68E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01685	4.69	5.21	4.03	0.46877	Cadherin (4);Cadherin-like (1);	0.332899	0.32703	N	0.005751	T	0.03695	0.0105	M	0.86573	2.825	0.36855	D	0.8881	P	0.35507	0.506	B	0.27608	0.081	T	0.36286	-0.9754	10	0.29301	T	0.29	.	12.5639	0.56297	0.0:0.0:0.1394:0.8605	.	3493	Q14517	FAT1_HUMAN	L	3493;3495	ENSP00000406229:P3493L	ENSP00000260147:P3495L	P	-	2	0	FAT1	187762595	1.000000	0.71417	0.990000	0.47175	0.011000	0.07611	4.535000	0.60629	1.005000	0.39183	-0.375000	0.07067	CCG	.		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187525601	G	A	187525601	3	1	22	1	0	0	0	0	1	0	0	0	5711	1116	39	1	3328	1	FAT1	4	187525601	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	23475477	187525601	3628675	32	2925											
SEMA5A	9037	hgsc.bcm.edu	37	5	9202072	9202072	+	Silent	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr5:9202072G>T	ENST00000382496.5	-	9	1592	c.927C>A	c.(925-927)acC>acA	p.T309T		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	309	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						CATACACATTGGTGGTAAAGA	0.398																																					p.T309T		.											.	.	.	0			c.C927A						.						57	57	57					5																	9202072		2203	4300	6503	SO:0001819	synonymous_variant	9037	exon9			CACATTGGTGGTA	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.927C>A	5.37:g.9202072G>T		26	0		51	4	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			.		0.398	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9202072	G	T	9202072	2	4	22	1	0	0	0	0	0	0	0	1	14082	1335	47	3		3	SEMA5A	5	9202072	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		9202072	171713188	33	2926											
CDH6	1004	hgsc.bcm.edu	37	5	31317975	31317975	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr5:31317975C>T	ENST00000265071.2	+	11	2091	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M	CDH6_ENST00000514738.1_Missense_Mutation_p.T554M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	609					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						ATCCACCCCACGGGACTGAGC	0.597																																					p.T609M		.											CDH6,NS,carcinoma,0,1	CDH6	0	0			c.C1826T						.						66	64	64					5																	31317975		2203	4300	6503	SO:0001583	missense	1004	exon11			ACCCCACGGGACT	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.1826C>T	5.37:g.31317975C>T	ENSP00000265071:p.Thr609Met	30	0		40	2	NM_004932	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300231	0.40694	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58358	0.5;0.34	5.29	5.29	0.74685	Cadherin (1);	0.152106	0.64402	D	0.000018	T	0.56077	0.1961	N	0.16368	0.405	0.49687	D	0.999812	D;D	0.67145	0.994;0.996	P;P	0.61275	0.715;0.886	T	0.56360	-0.7992	10	0.35671	T	0.21	.	19.309	0.94177	0.0:1.0:0.0:0.0	.	609;609	P55285;P55285-2	CADH6_HUMAN;.	M	554;609	ENSP00000424843:T554M;ENSP00000265071:T609M	ENSP00000265071:T609M	T	+	2	0	CDH6	31353732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.944000	0.56629	2.625000	0.88918	0.655000	0.94253	ACG	.		0.597	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		T	31317975	C	T	31317975	3	4	22	1	0	0	0	0	1	0	0	0	3121	536	19	1	1864	1	CDH6	5	31317975	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	22115903	31317975	149597285	34	2927											
GIN1	54826	hgsc.bcm.edu	37	5	102440388	102440388	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr5:102440388C>A	ENST00000399004.2	-	4	590	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	GIN1_ENST00000508629.1_Missense_Mutation_p.D166Y|GIN1_ENST00000511400.1_5'Flank	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	166	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.D166N(1)		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)		GTGAACAAATCTGTCATGATT	0.358																																					p.D166Y		.											GIN1,mouth,carcinoma,0,1	GIN1	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G496T						.						111	102	105					5																	102440388		1863	4097	5960	SO:0001583	missense	54826	exon4			ACAAATCTGTCAT	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.496G>T	5.37:g.102440388C>A	ENSP00000381970:p.Asp166Tyr	25	0		32	2	NM_017676	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349346	0.41599	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.69685	-0.42;-0.42	5.88	5.02	0.67125	Integrase, catalytic core (2);Ribonuclease H-like (1);	0.000000	0.56097	D	0.000024	D	0.82697	0.5093	M	0.85859	2.78	0.51482	D	0.999928	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.909	D	0.85522	0.1204	10	0.87932	D	0	0.0188	13.0877	0.59151	0.0:0.9265:0.0:0.0735	.	166;166	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	Y	166	ENSP00000381970:D166Y;ENSP00000427162:D166Y	ENSP00000381970:D166Y	D	-	1	0	GIN1	102468287	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	3.264000	0.51553	1.499000	0.48617	0.555000	0.69702	GAT	.		0.358	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		A	102440388	C	A	102440388	3	1	22	1	0	0	0	0	1	0	0	0	6412	913	32	3	1092	3	GIN1	5	102440388	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	71122413	102440388	78474872	35	2928											
SGCD	6444	broad.mit.edu	37	5	155935643	155935643	+	Silent	SNP	A	A	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr5:155935643A>G	ENST00000435422.3	+	3	709	c.222A>G	c.(220-222)aaA>aaG	p.K74K	SGCD_ENST00000447401.1_Silent_p.K75K|SGCD_ENST00000517913.1_Silent_p.K75K|SGCD_ENST00000337851.4_Silent_p.K75K	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	74					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)			TCACAGAAAAAGGTCTAAAGC	0.413																																					p.K75K													.	SGCD	52	0			c.A225G						.						98	89	92					5																	155935643		1841	4098	5939	SO:0001819	synonymous_variant	6444	exon4			AGAAAAAGGTCTA	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.222A>G	5.37:g.155935643A>G		83	0		150	4	NM_000337	A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	CCDS47327.1																																																																																			.		0.413	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			G	155935643	A	G	155935643	2	3	22	1	0	0	0	0	0	0	0	1	14246	69	3	4		4	SGCD	5	155935643	Silent	SNP	A	TCGA-W5-AA34-01A-11D-A417-09	53495255	155935643	24979617	36	2929											
NSD1	64324	hgsc.bcm.edu	37	5	176709524	176709524	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr5:176709524G>T	ENST00000439151.2	+	19	5996	c.5951G>T	c.(5950-5952)cGa>cTa	p.R1984L	NSD1_ENST00000347982.4_Missense_Mutation_p.R1715L|NSD1_ENST00000354179.4_Missense_Mutation_p.R1715L|NSD1_ENST00000361032.4_Missense_Mutation_p.R1881L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		R -> Q (in SOTOS1; loss of enzyme activity). {ECO:0000269|PubMed:12807965}.		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)	p.R1984Q(1)		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)		TGCAGAGCTCGAATTCGCTAT	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R1984L		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	NSD1_ENST00000439151,bladder,carcinoma,0,3	NSD1_ENST00000439151	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G5951T	GRCh37	CM031304	NSD1	M		.						212	208	209					5																	176709524		2203	4300	6503	SO:0001583	missense	64324	exon19	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	GAGCTCGAATTCG	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.5951G>T	5.37:g.176709524G>T	ENSP00000395929:p.Arg1984Leu	35	0		49	2	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415715	0.96092	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.77	5.77	0.91146	SET domain (3);	0.000000	0.48767	D	0.000166	D	0.97885	0.9305	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.98593	1.0655	10	0.87932	D	0	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	1715;1984	Q96L73-2;Q96L73	.;NSD1_HUMAN	L	1715;1984;1715;1881	ENSP00000346111:R1715L;ENSP00000395929:R1984L;ENSP00000343209:R1715L;ENSP00000354310:R1881L	ENSP00000343209:R1715L	R	+	2	0	NSD1	176642130	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.021000	0.88750	2.884000	0.98904	0.655000	0.94253	CGA	.		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		T	176709524	G	T	176709524	3	4	22	1	0	0	0	0	1	0	0	0	10708	1058	37	2	6021	2	NSD1	5	176709524	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	20773881	176709524	4205736	37	2930											
CYP21A2	1590	broad.mit.edu	37	6	31973481	31973483	+	IGR	DEL	CTG	CTG	-	rs372987663		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr6:31973481_31973483delCTG	ENST00000594256.1	-	0	69				CYP21A1P_ENST00000342991.6_RNA|C4A-AS1_ENST00000458633.1_RNA																							gctcctgggcctgctgctgctgc	0.66																																					.													.	CYP21A2	42	0			.						.			59,3537		5,49,1744						0.7	0.9			4	127,6723		15,97,3313	no	intergenic				20,146,5057	A1A1,A1R,RR		1.854,1.6407,1.7806				186,10260				SO:0001628	intergenic_variant	0	.			CTGGGCCTGCTGC																													6.37:g.31973490_31973492delCTG		66	0		149	8	.		RNA	DEL	ENST00000594256.1	37																																																																																				.		0.66	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				-	31973483	CTG	-	31973481	6	5	22	0	1	1	0	1	0	0	0	0	4162	680	24	0		0	CYP21A2	6	31973481	IGR	DEL	CTG	TCGA-W5-AA34-01A-11D-A417-09		31973481	139141586	38	2931											
HLA-DOA	3111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	32975954	32975954	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr6:32975954T>A	ENST00000229829.5	-	2	242	c.167A>T	c.(166-168)cAg>cTg	p.Q56L	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.Q26L|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	56	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						AGAGAACAGCTGTTCCTCATC	0.597																																					p.Q56L		.											.	.	.	0			c.A167T						.						58	48	52					6																	32975954		1511	2709	4220	SO:0001583	missense	3111	exon2			AACAGCTGTTCCT	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.167A>T	6.37:g.32975954T>A	ENSP00000229829:p.Gln56Leu	32	0		61	21	NM_002119	Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	CCDS4763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.566240|4.566240	0.86439|0.86439	.|.	.|.	ENSG00000204252|ENSG00000204252	ENST00000229829;ENST00000450833|ENST00000432150	T;T|.	0.00760|.	5.73;5.73|.	4.49|4.49	4.49|4.49	0.54785|0.54785	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);|.	0.135690|.	0.47852|.	D|.	0.000207|.	T|T	0.47078|0.47078	0.1426|0.1426	L|L	0.60455|0.60455	1.87|1.87	0.32763|0.32763	N|N	0.50482|0.50482	D;D|.	0.61697|.	0.99;0.979|.	P;P|.	0.60173|.	0.87;0.87|.	T|T	0.54873|0.54873	-0.8228|-0.8228	10|6	0.87932|0.87932	D|D	0|0	.|.	10.4022|10.4022	0.44235|0.44235	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	26;56|.	B4DW77;P06340|.	.;DOA_HUMAN|.	L|C	56;26|56	ENSP00000229829:Q56L;ENSP00000403896:Q26L|.	ENSP00000229829:Q56L|ENSP00000412819:S56C	Q|S	-|-	2|1	0|0	HLA-DOA|HLA-DOA	33083932|33083932	0.951000|0.951000	0.32395|0.32395	0.988000|0.988000	0.46212|0.46212	0.996000|0.996000	0.88848|0.88848	1.365000|1.365000	0.34182|0.34182	2.017000|2.017000	0.59298|0.59298	0.454000|0.454000	0.30748|0.30748	CAG|AGC	.		0.597	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		A	32975954	T	A	32975954	3	1	22	1	0	0	0	0	1	0	0	0	7227	1580	55	5	601	5	HLA-DOA	6	32975954	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	1002473	32975954	138139113	39	2932											
EPHA7	2045	hgsc.bcm.edu	37	6	93953157	93953157	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr6:93953157C>T	ENST00000369303.4	-	17	3168	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	995					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)	p.G995D(1)		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)		CACTTGAATGCCAGTTCCATG	0.408																																					p.G995D		.											EPHA7,caecum,carcinoma,0,1	EPHA7	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2984A						.						261	216	231					6																	93953157		2203	4300	6503	SO:0001583	missense	2045	exon17			TGAATGCCAGTTC	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.2984G>A	6.37:g.93953157C>T	ENSP00000358309:p.Gly995Asp	42	0		50	3	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111595	0.77210	.	.	ENSG00000135333	ENST00000369303	T	0.06449	3.3	5.79	5.79	0.91817	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	L	0.55743	1.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	T	0.00812	-1.1556	10	0.42905	T	0.14	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	991;990;995	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	D	995	ENSP00000358309:G995D	ENSP00000358309:G995D	G	-	2	0	EPHA7	94009878	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.954000	0.70298	2.727000	0.93392	0.591000	0.81541	GGC	.		0.408	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			T	93953157	C	T	93953157	3	4	22	1	0	0	0	0	1	0	0	0	5188	739	26	3	16	3	EPHA7	6	93953157	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	60977203	93953157	77161910	40	2933											
REV3L	5980	hgsc.bcm.edu;bcgsc.ca	37	6	111697468	111697468	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr6:111697468G>T	ENST00000358835.3	-	14	2544	c.2090C>A	c.(2089-2091)cCt>cAt	p.P697H	REV3L_ENST00000435970.1_Missense_Mutation_p.P619H|REV3L_ENST00000368805.1_Missense_Mutation_p.P697H|REV3L_ENST00000368802.3_Missense_Mutation_p.P697H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	697					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)		ATTCTCGTTAGGGTGACGGTG	0.323								DNA polymerases (catalytic subunits)																													p.P697H		.											.	.	.	0			c.C2090A						.						61	66	64					6																	111697468		2203	4298	6501	SO:0001583	missense	5980	exon13			TCGTTAGGGTGAC	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.2090C>A	6.37:g.111697468G>T	ENSP00000351697:p.Pro697His	37	0		73	4	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	6.903	0.536152	0.13188	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01430	4.99;4.99;4.99;4.9	5.53	0.926	0.19430	Ribonuclease H-like (1);	0.683335	0.14403	N	0.321750	T	0.00271	0.0008	N	0.08118	0	0.09310	N	0.999997	B	0.20988	0.05	B	0.22386	0.039	T	0.44907	-0.9297	10	0.34782	T	0.22	-17.4562	0.2981	0.00269	0.3413:0.2155:0.2532:0.19	.	697	O60673	DPOLZ_HUMAN	H	697;697;697;619	ENSP00000357792:P697H;ENSP00000357795:P697H;ENSP00000351697:P697H;ENSP00000402003:P619H	ENSP00000351697:P697H	P	-	2	0	REV3L	111804161	0.975000	0.34042	0.447000	0.26932	0.876000	0.50452	1.168000	0.31859	0.244000	0.21351	0.563000	0.77884	CCT	.		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		T	111697468	G	T	111697468	3	4	22	1	0	0	0	0	1	0	0	0	13285	1000	35	3	7382	3	REV3L	6	111697468	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	17744311	111697468	59417599	41	2934											
CASD1	64921	hgsc.bcm.edu	37	7	94173762	94173762	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr7:94173762G>T	ENST00000297273.4	+	11	1683	c.1396G>T	c.(1396-1398)Gca>Tca	p.A466S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	466						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)			TCTGGTTGCTGCATATTTATT	0.358																																					p.A466S		.											.	.	.	0			c.G1396T						.						162	152	155					7																	94173762		2203	4300	6503	SO:0001583	missense	64921	exon11			GTTGCTGCATATT	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.1396G>T	7.37:g.94173762G>T	ENSP00000297273:p.Ala466Ser	27	0		95	4	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226893	0.58668	.	.	ENSG00000127995	ENST00000297273	T	0.44482	0.92	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	L	0.42008	1.315	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.53954	-0.8365	10	0.34782	T	0.22	.	18.1737	0.89754	0.0:0.0:1.0:0.0	.	466;466	Q8WZ77;Q96PB1	.;CASD1_HUMAN	S	466	ENSP00000297273:A466S	ENSP00000297273:A466S	A	+	1	0	CASD1	94011698	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	9.822000	0.99363	2.377000	0.81083	0.455000	0.32223	GCA	.		0.358	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		T	94173762	G	T	94173762	3	4	22	1	0	0	0	0	1	0	0	0	2671	1319	46	3	1438	3	CASD1	7	94173762	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		94173762	64964901	42	2935											
ZKSCAN5	23660	hgsc.bcm.edu;bcgsc.ca	37	7	99123689	99123689	+	Silent	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr7:99123689C>T	ENST00000394170.2	+	6	1277	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G	ZKSCAN5_ENST00000326775.5_Silent_p.G342G|ZKSCAN5_ENST00000451158.1_Silent_p.G342G	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	342					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)					GCACACATGGCGAGAGAGGGC	0.502																																					p.G342G		.											.	.	.	0			c.C1026T						.						76	63	67					7																	99123689		2203	4300	6503	SO:0001819	synonymous_variant	23660	exon6			ACATGGCGAGAGA	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.1026C>T	7.37:g.99123689C>T		47	0		69	5	NM_145102	A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	CCDS5667.1																																																																																			.		0.502	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		T	99123689	C	T	99123689	2	4	22	1	0	0	0	0	0	0	0	1	17738	755	27	1		1	ZKSCAN5	7	99123689	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	4949927	99123689	60014974	43	2936											
PPP1R3A	5506	hgsc.bcm.edu	37	7	113518127	113518127	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr7:113518127G>T	ENST00000284601.3	-	4	3088	c.3020C>A	c.(3019-3021)tCt>tAt	p.S1007Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1007					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						TGGCCCTAGAGATTTTTCCAC	0.378																																					p.S1007Y		.											.	.	.	0			c.C3020A						.						125	123	124					7																	113518127		2203	4298	6501	SO:0001583	missense	5506	exon4			CCTAGAGATTTTT	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.3020C>A	7.37:g.113518127G>T	ENSP00000284601:p.Ser1007Tyr	23	0		59	4	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294684	0.23564	.	.	ENSG00000154415	ENST00000284601	T	0.23348	1.91	5.71	2.89	0.33648	.	0.417563	0.23180	N	0.051040	T	0.39279	0.1072	M	0.66939	2.045	0.09310	N	1	D	0.61080	0.989	P	0.57283	0.817	T	0.19451	-1.0305	10	0.87932	D	0	-2.7386	8.1705	0.31252	0.1328:0.2444:0.6228:0.0	.	1007	Q16821	PPR3A_HUMAN	Y	1007	ENSP00000284601:S1007Y	ENSP00000284601:S1007Y	S	-	2	0	PPP1R3A	113305363	0.561000	0.26578	0.014000	0.15608	0.397000	0.30659	1.764000	0.38471	0.319000	0.23209	0.650000	0.86243	TCT	.		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113518127	G	T	113518127	3	4	22	1	0	0	0	0	1	0	0	0	12413	942	33	3	352	3	PPP1R3A	7	113518127	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	14394438	113518127	45620536	44	2937											
GRM8	2918	hgsc.bcm.edu	37	7	126086280	126086280	+	Silent	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr7:126086280C>A	ENST00000339582.2	-	10	3385	c.2577G>T	c.(2575-2577)gtG>gtT	p.V859V	GRM8_ENST00000358373.3_Silent_p.V859V|GRM8_ENST00000444921.2_Silent_p.V859V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	859					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)				CAGCTGTCACCACAGCCTTGA	0.423										HNSCC(24;0.065)																											p.V859V		.											GRM8,right_upper_lobe,carcinoma,0,1	GRM8	0	0			c.G2577T						.						179	161	167					7																	126086280		2203	4300	6503	SO:0001819	synonymous_variant	2918	exon9			TGTCACCACAGCC		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.2577G>T	7.37:g.126086280C>A		59	0		49	2	NM_000845	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																			.		0.423	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126086280	C	A	126086280	2	1	22	1	0	0	0	0	0	0	0	1	6830	581	21	3		3	GRM8	7	126086280	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	12568153	126086280	33052383	45	2938											
PAX4	5078	hgsc.bcm.edu	37	7	127253566	127253566	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr7:127253566G>T	ENST00000341640.2	-	5	764	c.559C>A	c.(559-561)Cct>Act	p.P187T	PAX4_ENST00000463946.1_Missense_Mutation_p.P185T|PAX4_ENST00000378740.2_Missense_Mutation_p.P187T|PAX4_ENST00000338516.3_Missense_Mutation_p.P195T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	195					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)	p.P187T(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTGAATCAGGATACTGCCCA	0.582																																					p.P187T	Ovarian(113;737 1605 7858 27720 34092)	.											PAX4,NS,carcinoma,0,1	PAX4	0	1	Substitution - Missense(1)	lung(1)	c.C559A						.						64	65	65					7																	127253566		2203	4300	6503	SO:0001583	missense	5078	exon5			AATCAGGATACTG		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.559C>A	7.37:g.127253566G>T	ENSP00000339906:p.Pro187Thr	29	0		46	2	NM_006193	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936995	0.73557	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.98666	-5.06;-5.06;-5.06	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.144455	0.46145	D	0.000314	D	0.99369	0.9778	H	0.94423	3.535	0.50467	D	0.999874	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	D	0.98595	1.0656	10	0.87932	D	0	.	16.3858	0.83504	0.0:0.0:1.0:0.0	.	187;185;195;185	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	T	187;195;195;185	ENSP00000339906:P187T;ENSP00000344297:P195T;ENSP00000451923:P185T	ENSP00000344297:P195T	P	-	1	0	PAX4	127040802	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.893000	0.56243	2.661000	0.90470	0.650000	0.86243	CCT	.		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			T	127253566	G	T	127253566	3	4	22	1	0	0	0	0	1	0	0	0	11520	1174	41	3	492	3	PAX4	7	127253566	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	1167286	127253566	31885097	46	2939											
KCNH2	3757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	150644044	150644044	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr7:150644044G>A	ENST00000262186.5	-	14	3652	c.3251C>T	c.(3250-3252)cCg>cTg	p.P1084L	KCNH2_ENST00000330883.4_Missense_Mutation_p.P744L|KCNH2_ENST00000392968.2_Missense_Mutation_p.P988L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1084					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)	GCCAGGCCCCGGGGTGGTCAC	0.662																																					p.P1084L	GBM(137;110 1844 13671 20123 45161)	.											.	.	.	0			c.C3251T						.						54	56	56					7																	150644044		2203	4300	6503	SO:0001583	missense	3757	exon14			GGCCCCGGGGTGG	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.3251C>T	7.37:g.150644044G>A	ENSP00000262186:p.Pro1084Leu	23	0		27	12	NM_000238	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764549	0.49574	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.86627	-2.15;-2.15;-2.15	4.89	3.98	0.46160	.	0.144412	0.46145	D	0.000311	D	0.85860	0.5795	L	0.38175	1.15	0.80722	D	1	D;D;D	0.64830	0.99;0.99;0.994	P;P;P	0.52481	0.505;0.505;0.7	D	0.85817	0.1383	10	0.52906	T	0.07	.	12.3675	0.55236	0.0:0.0:0.8299:0.1701	.	988;1084;744	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	L	744;988;1084	ENSP00000328531:P744L;ENSP00000376695:P988L;ENSP00000262186:P1084L	ENSP00000262186:P1084L	P	-	2	0	KCNH2	150274977	0.970000	0.33590	0.991000	0.47740	0.740000	0.42216	1.575000	0.36493	1.146000	0.42352	0.484000	0.47621	CCG	.		0.662	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		A	150644044	G	A	150644044	3	1	22	1	0	0	0	0	1	0	0	0	8059	1116	39	1	236	1	KCNH2	7	150644044	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	23390478	150644044	8494619	47	2940											
NCAPG2	54892	broad.mit.edu	37	7	158478886	158478886	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr7:158478886T>C	ENST00000409423.1	-	9	987	c.815A>G	c.(814-816)aAg>aGg	p.K272R	NCAPG2_ENST00000409339.3_Missense_Mutation_p.K272R|NCAPG2_ENST00000356309.3_Missense_Mutation_p.K272R|NCAPG2_ENST00000449727.2_Missense_Mutation_p.K272R|NCAPG2_ENST00000275830.10_Missense_Mutation_p.K64R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	272					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCCTGAAGCCTTTTTCCAAGC	0.244																																					p.K272R													.	NCAPG2	80	0			c.A815G						.						32	32	32					7																	158478886		1779	4041	5820	SO:0001583	missense	54892	exon8			GAAGCCTTTTTCC	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.815A>G	7.37:g.158478886T>C	ENSP00000386569:p.Lys272Arg	114	1		345	6	NM_017760	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.89|19.89	3.911524|3.911524	0.72983|0.72983	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727|ENST00000441982	T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71609|0.71609	0.3360|0.3360	M|M	0.68317|0.68317	2.08|2.08	0.51482|0.51482	D|D	0.999927|0.999927	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.998;1.0|.	T|T	0.71679|0.71679	-0.4520|-0.4520	10|5	0.46703|.	T|.	0.11|.	-32.5969|-32.5969	14.001|14.001	0.64433|0.64433	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	272;64;272|.	Q86XI2-2;E7EUH9;Q86XI2|.	.;.;CNDG2_HUMAN|.	R|G	272;272;64;272;272|74	ENSP00000348657:K272R;ENSP00000386569:K272R;ENSP00000275830:K64R;ENSP00000387007:K272R;ENSP00000388326:K272R|.	ENSP00000275830:K64R|.	K|R	-|-	2|1	0|2	NCAPG2|NCAPG2	158171647|158171647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.407000|5.407000	0.66363|0.66363	2.107000|2.107000	0.64212|0.64212	0.533000|0.533000	0.62120|0.62120	AAG|AGG	.		0.244	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		C	158478886	T	C	158478886	3	2	22	1	0	0	0	0	1	0	0	0	10247	1609	56	4	2700	4	NCAPG2	7	158478886	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	7834842	158478886	659777	48	2941											
DLGAP2	9228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	1616583	1616583	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr8:1616583C>A	ENST00000421627.2	+	6	1793	c.1659C>A	c.(1657-1659)agC>agA	p.S553R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	632					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)		CGGCGCAGAGCAGCACCGAAT	0.617																																					p.S553R		.											.	.	.	0			c.C1659A						.						13	18	16					8																	1616583		2029	4172	6201	SO:0001583	missense	9228	exon6			GCAGAGCAGCACC	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.1659C>A	8.37:g.1616583C>A	ENSP00000400258:p.Ser553Arg	70	0		103	52	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.772790|4.772790	0.90108|0.90108	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.18502	.|2.21	5.53|5.53	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46541|0.46541	0.1398|0.1398	M|M	0.84585|0.84585	2.705|2.705	0.49915|0.49915	D|D	0.999835|0.999835	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	T|T	0.55082|0.55082	-0.8196|-0.8196	5|10	.|0.87932	.|D	.|0	-13.446|-13.446	14.5123|14.5123	0.67797|0.67797	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|632;632	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	E|R	570|598;553	.|ENSP00000400258:S553R	.|ENSP00000348366:S598R	A|S	+|+	2|3	0|2	DLGAP2|DLGAP2	1603990|1603990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.040000|3.040000	0.49799|0.49799	1.329000|1.329000	0.45376|0.45376	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.617	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1616583	C	A	1616583	3	1	22	1	0	0	0	0	1	0	0	0	4574	709	25	3	1677	3	DLGAP2	8	1616583	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		1616583	144747439	49	2942											
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	35579781	35579781	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr8:35579781G>A	ENST00000404895.2	+	9	1499	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	UNC5D_ENST00000453357.2_Missense_Mutation_p.V386M|UNC5D_ENST00000287272.2_Missense_Mutation_p.V335M|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000416672.1_Missense_Mutation_p.V396M|UNC5D_ENST00000420357.1_Missense_Mutation_p.V324M	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	391					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)		TGCTGCCGTCGTGGCCGTTGC	0.522																																					p.V391M		.											.	.	.	0			c.G1171A						.						266	234	245					8																	35579781		2203	4300	6503	SO:0001583	missense	137970	exon9			GCCGTCGTGGCCG	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.1171G>A	8.37:g.35579781G>A	ENSP00000385143:p.Val391Met	32	0		47	5	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129393	0.56721	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.60040	0.25;0.86;0.66;0.29;0.22	5.71	4.72	0.59763	.	0.154756	0.56097	D	0.000026	T	0.44603	0.1301	N	0.17764	0.52	0.80722	D	1	D;D;D	0.56521	0.968;0.976;0.96	P;P;P	0.49421	0.565;0.61;0.483	T	0.47837	-0.9086	10	0.72032	D	0.01	-17.1098	3.9909	0.09537	0.3204:0.0:0.6796:0.0	.	396;386;391	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	M	391;324;335;396;386	ENSP00000385143:V391M;ENSP00000392739:V324M;ENSP00000287272:V335M;ENSP00000412652:V396M;ENSP00000394303:V386M	ENSP00000287272:V335M	V	+	1	0	UNC5D	35699323	0.956000	0.32656	0.931000	0.37212	0.583000	0.36354	1.871000	0.39539	2.694000	0.91930	0.650000	0.86243	GTG	.		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			A	35579781	G	A	35579781	3	1	22	1	0	0	0	0	1	0	0	0	17044	1145	40	1	1205	1	UNC5D	8	35579781	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	33963198	35579781	110784241	50	2943											
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	41525850	41525850	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr8:41525850G>A	ENST00000347528.4	-	39	5412	c.5329C>T	c.(5329-5331)Cgg>Tgg	p.R1777W	ANK1_ENST00000396942.1_Missense_Mutation_p.R1777W|ANK1_ENST00000352337.4_Missense_Mutation_p.R1777W|ANK1_ENST00000396945.1_Missense_Mutation_p.R1777W|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.R1777W|ANK1_ENST00000379758.2_Missense_Mutation_p.R1777W|ANK1_ENST00000265709.8_Missense_Mutation_p.R1818W	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1777	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)			TGCTGCCTCCGGTCCCTGTCG	0.627																																					p.R1818W		.											.	.	.	0			c.C5452T						.						115	91	99					8																	41525850		2203	4300	6503	SO:0001583	missense	286	exon40			GCCTCCGGTCCCT	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.5329C>T	8.37:g.41525850G>A	ENSP00000339620:p.Arg1777Trp	22	0		47	22	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.161302|2.161302	0.38119|0.38119	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	.|T;T;T;T;T;T;T	.|0.65549	.|-0.15;-0.16;-0.13;-0.15;-0.13;-0.11;-0.15	4.09|4.09	-0.114|-0.114	0.13564|0.13564	.|.	.|0.817374	.|0.10985	.|N	.|0.612232	T|T	0.46718|0.46718	0.1407|0.1407	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|D;B;P;D;D;B	.|0.58620	.|0.983;0.001;0.951;0.978;0.968;0.001	.|P;B;B;B;B;B	.|0.46362	.|0.514;0.0;0.394;0.436;0.335;0.0	T|T	0.38045|0.38045	-0.9679|-0.9679	5|10	.|0.66056	.|D	.|0.02	.|.	4.1683|4.1683	0.10317|0.10317	0.3069:0.3322:0.3609:0.0|0.3069:0.3322:0.3609:0.0	.|.	.|1818;1615;1777;1777;1777;931	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	L|W	936|1777;1777;1777;1777;1777;1777;1818	.|ENSP00000339620:R1777W;ENSP00000289734:R1777W;ENSP00000369082:R1777W;ENSP00000380149:R1777W;ENSP00000380147:R1777W;ENSP00000309131:R1777W;ENSP00000265709:R1818W	.|ENSP00000265709:R1818W	P|R	-|-	2|1	0|2	ANK1|ANK1	41645007|41645007	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.446000|0.446000	0.21694|0.21694	-0.115000|-0.115000	0.11915|0.11915	-0.671000|-0.671000	0.03813|0.03813	CCG|CGG	.		0.627	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41525850	G	A	41525850	3	1	22	1	0	0	0	0	1	0	0	0	620	1115	39	1	658	1	ANK1	8	41525850	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	5946069	41525850	104838172	51	2944											
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	61654449	61654449	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr8:61654449C>A	ENST00000423902.2	+	2	937	c.458C>A	c.(457-459)cCa>cAa	p.P153Q	CHD7_ENST00000525508.1_Missense_Mutation_p.P153Q|CHD7_ENST00000524602.1_Missense_Mutation_p.P153Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	153	Gln-rich.				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)			GTTCAGGTACCAGACCAGATA	0.657																																					p.P153Q		.											.	.	.	0			c.C458A						.						26	32	30					8																	61654449		2069	4236	6305	SO:0001583	missense	55636	exon2			AGGTACCAGACCA	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.458C>A	8.37:g.61654449C>A	ENSP00000392028:p.Pro153Gln	23	0		31	10	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220840	0.39201	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.81659	-1.52;1.85;-1.15	5.24	4.36	0.52297	.	0.000000	0.40302	N	0.001132	T	0.78304	0.4262	L	0.43152	1.355	0.49299	D	0.999775	D	0.55385	0.971	P	0.47299	0.543	T	0.80379	-0.1407	10	0.72032	D	0.01	-8.5422	13.5328	0.61631	0.0:0.9246:0.0:0.0754	.	153	Q9P2D1	CHD7_HUMAN	Q	153	ENSP00000392028:P153Q;ENSP00000437061:P153Q;ENSP00000436027:P153Q	ENSP00000307304:P153Q	P	+	2	0	CHD7	61817003	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	6.491000	0.73649	1.220000	0.43490	0.655000	0.94253	CCA	.		0.657	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61654449	C	A	61654449	3	1	22	1	0	0	0	0	1	0	0	0	3337	594	21	3	460	3	CHD7	8	61654449	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	20128599	61654449	84709573	52	2945											
RAD54B	25788	hgsc.bcm.edu	37	8	95479633	95479633	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr8:95479633C>T	ENST00000336148.5	-	2	259	c.135G>A	c.(133-135)gaG>gaA	p.E45E	RAD54B_ENST00000297592.5_Splice_Site_p.E45E	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	45					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)			TTTGCCTTACCTCAAATAATT	0.308								Direct reversal of damage;Homologous recombination																													p.E45E		.											.	.	.	0			c.G135A						.						91	92	92					8																	95479633		2203	4300	6503	SO:0001630	splice_region_variant	25788	exon2			CCTTACCTCAAAT	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.135+1G>A	8.37:g.95479633C>T		55	0		97	4	NM_001205262	F6WBS8	Silent	SNP	ENST00000336148.5	37	CCDS6262.1																																																																																			.		0.308	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	Silent	T	95479633	C	T	95479633	5	4	22	1	0	0	0	0	0	0	1	0	13037	695	24	3	2653	3	RAD54B	8	95479633	Splice_Site	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	33825184	95479633	50884389	53	2946											
IKBKAP	8518	hgsc.bcm.edu	37	9	111681574	111681574	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr9:111681574T>C	ENST00000374647.5	-	7	915	c.608A>G	c.(607-609)gAt>gGt	p.D203G	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	203					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						AAACTGTCCATCCCCCCGCCA	0.388																																					p.D203G		.											.	.	.	0			c.A608G						.						60	52	55					9																	111681574		2203	4300	6503	SO:0001583	missense	8518	exon7			TGTCCATCCCCCC	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.608A>G	9.37:g.111681574T>C	ENSP00000363779:p.Asp203Gly	105	0		86	4	NM_003640	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617338	0.87359	.	.	ENSG00000070061	ENST00000374647	T	0.70399	-0.48	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90869	0.4744	10	0.87932	D	0	-8.9712	13.1124	0.59281	0.0:0.0:0.0:1.0	.	203	O95163	ELP1_HUMAN	G	203	ENSP00000363779:D203G	ENSP00000363779:D203G	D	-	2	0	IKBKAP	110721395	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	1.999000	0.58509	0.533000	0.62120	GAT	.		0.388	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			C	111681574	T	C	111681574	3	2	22	1	0	0	0	0	1	0	0	0	7637	1435	50	4	3514	4	IKBKAP	9	111681574	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09		111681574	29531857	54	2947											
CUBN	8029	hgsc.bcm.edu	37	10	16990489	16990489	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:16990489C>T	ENST00000377833.4	-	35	5262	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1733	CUB 11. {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)	GACACTGATGCGGTGACCGTG	0.517																																					p.A1733T		.											CUBN,NS,carcinoma,0,1	CUBN	0	0			c.G5197A						.						77	66	70					10																	16990489		2203	4300	6503	SO:0001583	missense	8029	exon35			CTGATGCGGTGAC	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.5197G>A	10.37:g.16990489C>T	ENSP00000367064:p.Ala1733Thr	56	0		64	3	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206767	0.79127	.	.	ENSG00000107611	ENST00000377833	T	0.37411	1.2	5.55	5.55	0.83447	CUB (4);	0.362765	0.20187	N	0.097399	T	0.40398	0.1115	L	0.53617	1.68	0.80722	D	1	D	0.58620	0.983	B	0.43478	0.421	T	0.22800	-1.0206	10	0.34782	T	0.22	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	1733	O60494	CUBN_HUMAN	T	1733	ENSP00000367064:A1733T	ENSP00000367064:A1733T	A	-	1	0	CUBN	17030495	1.000000	0.71417	0.120000	0.21714	0.002000	0.02628	4.698000	0.61789	2.601000	0.87937	0.655000	0.94253	GCA	.		0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16990489	C	T	16990489	3	4	22	1	0	0	0	0	1	0	0	0	4060	768	27	1	5806	1	CUBN	10	16990489	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		16990489	118544258	55	2948											
ANK3	288	hgsc.bcm.edu	37	10	61959898	61959898	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:61959898C>T	ENST00000280772.2	-	13	1671	c.1480G>A	c.(1480-1482)Gct>Act	p.A494T	ANK3_ENST00000503366.1_Missense_Mutation_p.A477T|ANK3_ENST00000373827.2_Missense_Mutation_p.A488T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	494					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)	p.A494S(1)		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						TTAGCTTTAGCTTCTACCTGA	0.433																																					p.A494T		.											ANK3,colon,carcinoma,0,1	ANK3	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1480A						.						92	82	86					10																	61959898		2203	4300	6503	SO:0001583	missense	288	exon13			CTTTAGCTTCTAC	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.1480G>A	10.37:g.61959898C>T	ENSP00000280772:p.Ala494Thr	25	0		48	2	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167603	0.78339	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.66280	-0.2;-0.2;-0.2	5.81	5.81	0.92471	Ankyrin repeat-containing domain (4);	0.000000	0.39985	N	0.001209	T	0.66557	0.2801	M	0.62723	1.935	0.80722	D	1	B;P;B;B;B	0.46142	0.259;0.873;0.013;0.126;0.092	B;B;B;B;B	0.43360	0.068;0.417;0.045;0.078;0.05	T	0.69650	-0.5088	10	0.59425	D	0.04	.	20.1454	0.98074	0.0:1.0:0.0:0.0	.	477;155;38;488;494	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	T	494;488;477;456;155;155;38	ENSP00000280772:A494T;ENSP00000362933:A488T;ENSP00000425236:A477T	ENSP00000280772:A494T	A	-	1	0	ANK3	61629904	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.900000	0.56295	2.749000	0.94314	0.650000	0.86243	GCT	.		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61959898	C	T	61959898	3	4	22	1	0	0	0	0	1	0	0	0	622	797	28	3	12110	3	ANK3	10	61959898	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	44969409	61959898	73574849	56	2949											
HERC4	26091	broad.mit.edu	37	10	69750950	69750950	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:69750950T>C	ENST00000395198.3	-	12	1525	c.1278A>G	c.(1276-1278)atA>atG	p.I426M	HERC4_ENST00000412272.2_Missense_Mutation_p.I426M|HERC4_ENST00000277817.6_Missense_Mutation_p.I316M|HERC4_ENST00000373700.4_Missense_Mutation_p.I426M|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	426					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						ACGTTCCATCTATCTCACTAA	0.244																																					p.I426M													.	HERC4	78	0			c.A1278G						.						23	24	24					10																	69750950		2193	4272	6465	SO:0001583	missense	26091	exon12			TCCATCTATCTCA	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.1278A>G	10.37:g.69750950T>C	ENSP00000378624:p.Ile426Met	121	0		441	4	NM_022079	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083036	0.36758	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.54675	0.84;0.56;0.61;0.59	5.53	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.71581	2.175	0.80722	D	1	D;P;B;P;B	0.67145	0.996;0.813;0.212;0.57;0.435	D;P;B;B;B	0.65010	0.931;0.49;0.094;0.39;0.218	T	0.62469	-0.6848	10	0.45353	T	0.12	.	7.4865	0.27437	0.2861:0.0:0.1016:0.6123	.	426;426;276;426;426	Q5GLZ8-3;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	M	316;426;426;426	ENSP00000277817:I316M;ENSP00000416504:I426M;ENSP00000378624:I426M;ENSP00000362804:I426M	ENSP00000277817:I316M	I	-	3	3	HERC4	69420956	0.978000	0.34361	1.000000	0.80357	0.989000	0.77384	0.078000	0.14761	0.905000	0.36596	0.533000	0.62120	ATA	.		0.244	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		C	69750950	T	C	69750950	3	2	22	1	0	0	0	0	1	0	0	0	7087	1512	53	4	1955	4	HERC4	10	69750950	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09	7791052	69750950	65783797	57	2950											
LCOR	84458	hgsc.bcm.edu	37	10	98708964	98708964	+	Silent	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:98708964C>T	ENST00000371097.4	+	6	696	c.150C>T	c.(148-150)aaC>aaT	p.N50N	LCOR_ENST00000371103.3_Silent_p.N50N|LCOR_ENST00000356016.3_Silent_p.N50N|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000540664.1_Silent_p.N50N			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	50					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTACTCAGAACCCTGTGCTCA	0.522																																					p.N50N		.											.	.	.	0			c.C150T						.						163	147	153					10																	98708964		2203	4300	6503	SO:0001819	synonymous_variant	84458	exon6			TCAGAACCCTGTG		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.150C>T	10.37:g.98708964C>T		53	0		76	4	NM_001170766	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	ENST00000371097.4	37	CCDS7451.1																																																																																			.		0.522	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			T	98708964	C	T	98708964	2	4	22	1	0	0	0	0	0	0	0	1	8717	506	18	3		3	LCOR	10	98708964	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	28958014	98708964	36825783	58	2951											
ABCC2	1244	hgsc.bcm.edu	37	10	101567200	101567200	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:101567200G>T	ENST00000370449.4	+	12	1703	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	530	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	ACCTCCGGAAGAAAGAGCTCA	0.433																																					p.K530N		.											ABCC2,NS,carcinoma,0,1	ABCC2	0	0			c.G1590T						.						157	155	156					10																	101567200		2203	4300	6503	SO:0001583	missense	1244	exon12			CCGGAAGAAAGAG	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.1590G>T	10.37:g.101567200G>T	ENSP00000359478:p.Lys530Asn	48	0		51	3	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	7.116	0.577002	0.13686	.	.	ENSG00000023839	ENST00000370449	D	0.88975	-2.45	5.31	3.36	0.38483	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.270258	0.40728	N	0.001025	T	0.79137	0.4395	N	0.20807	0.61	0.80722	D	1	B	0.21381	0.055	B	0.28709	0.093	T	0.67518	-0.5650	10	0.22706	T	0.39	-13.2809	7.8024	0.29183	0.0774:0.0:0.5138:0.4087	.	530	Q92887	MRP2_HUMAN	N	530	ENSP00000359478:K530N	ENSP00000359478:K530N	K	+	3	2	ABCC2	101557190	0.809000	0.29036	1.000000	0.80357	0.180000	0.23129	0.347000	0.20014	0.655000	0.30866	0.561000	0.74099	AAG	.		0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		T	101567200	G	T	101567200	3	4	22	1	0	0	0	0	1	0	0	0	53	933	33	3	1636	3	ABCC2	10	101567200	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	2858236	101567200	33967547	59	2952											
GBF1	8729	hgsc.bcm.edu	37	10	104123466	104123466	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:104123466G>T	ENST00000369983.3	+	17	2274		c.e17-1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTACTCCTAGCTGACAAAAA	0.428																																					.		.											.	.	.	0			c.2015-1G>T						.						111	117	115					10																	104123466		2203	4300	6503	SO:0001630	splice_region_variant	8729	exon17			CTCCTAGCTGACA	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2015-1G>T	10.37:g.104123466G>T		71	0		82	4	NM_004193	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936616	0.92458	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7681	0.96350	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBF1	104113456	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.456000	0.73501	2.768000	0.95171	0.655000	0.94253	.	.		0.428	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		Intron	T	104123466	G	T	104123466	5	4	22	1	0	0	0	0	0	0	1	0	6296	985	34	3	2076	3	GBF1	10	104123466	Splice_Site	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	2556266	104123466	31411281	60	2953											
PSD	5662	hgsc.bcm.edu;bcgsc.ca	37	10	104172214	104172214	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:104172214C>T	ENST00000020673.5	-	6	2198	c.1672G>A	c.(1672-1674)Gcg>Acg	p.A558T	PSD_ENST00000406432.1_Missense_Mutation_p.A558T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	558	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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)		AGGCGCTGCGCAGCCTCCAGG	0.622																																					p.A558T		.											.	.	.	0			c.G1672A						.						57	47	51					10																	104172214		2203	4300	6503	SO:0001583	missense	5662	exon7			GCTGCGCAGCCTC	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.1672G>A	10.37:g.104172214C>T	ENSP00000020673:p.Ala558Thr	34	0		61	4	NM_001270965	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664742	0.88251	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.45276	0.9;0.9	5.77	5.77	0.91146	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	H	0.94542	3.55	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.82388	-0.0482	10	0.87932	D	0	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	558	A5PKW4	PSD1_HUMAN	T	558;461;558	ENSP00000020673:A558T;ENSP00000384830:A558T	ENSP00000020673:A558T	A	-	1	0	PSD	104162204	1.000000	0.71417	0.879000	0.34478	0.234000	0.25298	7.487000	0.81328	2.744000	0.94065	0.561000	0.74099	GCG	.		0.622	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			T	104172214	C	T	104172214	3	4	22	1	0	0	0	0	1	0	0	0	12688	710	25	3	1450	3	PSD	10	104172214	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	48748	104172214	31362533	61	2954											
FGFR2	2263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	123279605	123279605	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr10:123279605A>C	ENST00000358487.5	-	7	1099	c.827T>G	c.(826-828)tTt>tGt	p.F276C	FGFR2_ENST00000478859.1_Missense_Mutation_p.F48C|FGFR2_ENST00000457416.2_Missense_Mutation_p.F276C|FGFR2_ENST00000360144.3_Missense_Mutation_p.F187C|FGFR2_ENST00000369056.1_Missense_Mutation_p.F276C|FGFR2_ENST00000369060.4_Missense_Mutation_p.F276C|FGFR2_ENST00000356226.4_Missense_Mutation_p.F161C|FGFR2_ENST00000346997.2_Missense_Mutation_p.F276C|FGFR2_ENST00000357555.5_Missense_Mutation_p.F187C|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.F161C|FGFR2_ENST00000351936.6_Missense_Mutation_p.F276C|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	276	Ig-like C2-type 3.		F -> V (in CS). {ECO:0000269|PubMed:11173845, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:9521581}.		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)	CTTGCAGACAAACTCTACGTC	0.592		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																												p.F276C		.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	.	0			c.T827G						.						118	102	108					10																	123279605		2203	4300	6503	SO:0001583	missense	2263	exon7	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	CAGACAAACTCTA	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.827T>G	10.37:g.123279605A>C	ENSP00000351276:p.Phe276Cys	46	0		44	37	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	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723371	0.89298	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;D;T;T;T;T;T;T;T;T	0.96651	-0.87;-0.87;-0.87;-4.08;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.992;1.0;0.998;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.969;0.94;0.996;0.967;0.999;0.959;0.983	D	0.99659	1.0993	10	0.87932	D	0	.	16.1311	0.81442	1.0:0.0:0.0:0.0	.	295;161;276;295;276;187;161;295;187;276	D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;.;.	C	187;276;276;161;276;161;276;276;276;187;276;276;187	ENSP00000350166:F187C;ENSP00000351276:F276C;ENSP00000348559:F161C;ENSP00000358056:F276C;ENSP00000358055:F161C;ENSP00000263451:F276C;ENSP00000410294:F276C;ENSP00000309878:F276C;ENSP00000353262:F187C;ENSP00000358052:F276C;ENSP00000358054:F276C;ENSP00000337665:F187C	ENSP00000337665:F187C	F	-	2	0	FGFR2	123269595	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.332000	0.96446	2.208000	0.71279	0.460000	0.39030	TTT	.		0.592	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		C	123279605	A	C	123279605	3	2	22	1	0	0	0	0	1	0	0	0	5888	14	1	4	1942	4	FGFR2	10	123279605	Missense_Mutation	SNP	A	TCGA-W5-AA34-01A-11D-A417-09	19107391	123279605	12255142	62	2955											
CTSD	1509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1776236	1776236	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:1776236C>T	ENST00000236671.2	-	6	859	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	RP11-295K3.1_ENST00000427721.1_Silent_p.G113G	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	243					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)"	ATCAGCTCACCCCCAGGCTGC	0.592																																					p.G243S		.											.	.	.	0			c.G727A						.						97	89	91					11																	1776236		2202	4299	6501	SO:0001583	missense	1509	exon6			GCTCACCCCCAGG	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.727G>A	11.37:g.1776236C>T	ENSP00000236671:p.Gly243Ser	38	0		66	35	NM_001909	Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.076812	0.76415	.	.	ENSG00000117984	ENST00000236671;ENST00000438213	T;T	0.69175	-0.38;-0.38	4.25	4.25	0.50352	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.75615	2.305	0.80722	D	1	D	0.56287	0.975	P	0.51016	0.656	T	0.79396	-0.1821	10	0.54805	T	0.06	.	17.2115	0.86931	0.0:1.0:0.0:0.0	.	243	P07339	CATD_HUMAN	S	243;228	ENSP00000236671:G243S;ENSP00000415036:G228S	ENSP00000236671:G243S	G	-	1	0	CTSD	1732812	0.999000	0.42202	0.538000	0.28064	0.203000	0.24098	5.235000	0.65348	2.373000	0.80994	0.455000	0.32223	GGT	.		0.592	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		T	1776236	C	T	1776236	3	4	22	1	0	0	0	0	1	0	0	0	4041	623	22	3	527	3	CTSD	11	1776236	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		1776236	133230280	63	2956											
OR56A5	0	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	5989177	5989177	+	IGR	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:5989177G>A								OR56A3 (19586 upstream) : OR52L1 (17944 downstream)																							AGACACGTTAGTACAGATGCA	0.458																																					p.T183I		.											.	.	.	0			c.C548T						.						107	87	93					11																	5989177		692	1591	2283	SO:0001628	intergenic_variant	390084	exon1			ACGTTAGTACAGA																													11.37:g.5989177G>A		51	0		52	8	NM_001146033		Missense_Mutation	SNP		37																																																																																				.	0	0.458									A	5989177	G	A	5989177	1	1	22	0	1	0	0	0	0	0	0	0	11175	1029	36	3		3	OR56A5	11	5989177	IGR	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	4212941	5989177	129017339	64	2957											
NELL1	4745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	21135210	21135210	+	Missense_Mutation	SNP	G	G	T	rs368227389		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:21135210G>T	ENST00000357134.5	+	13	1528	c.1376G>T	c.(1375-1377)cGc>cTc	p.R459L	NELL1_ENST00000532434.1_Missense_Mutation_p.R459L|NELL1_ENST00000325319.5_Missense_Mutation_p.R402L|NELL1_ENST00000298925.5_Missense_Mutation_p.R487L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 1; 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						GGGTTATATCGCTGTGACTGT	0.398																																					p.R459L		.											.	.	.	0			c.G1376T						.						350	298	316					11																	21135210		2203	4300	6503	SO:0001583	missense	4745	exon13			TATATCGCTGTGA	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.1376G>T	11.37:g.21135210G>T	ENSP00000349654:p.Arg459Leu	78	0		81	16	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156326	0.57259	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03	5.29	5.29	0.74685	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.37800	1.135	0.80722	D	1	D;D;B;P	0.76494	0.996;0.999;0.042;0.704	D;D;B;B	0.85130	0.992;0.997;0.096;0.367	D	0.89277	0.3609	10	0.08381	T	0.77	-23.5568	17.1145	0.86685	0.0:0.0:1.0:0.0	.	402;487;459;459	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	L	487;459;402;459	ENSP00000298925:R487L;ENSP00000349654:R459L;ENSP00000317837:R402L;ENSP00000437170:R459L	ENSP00000298925:R487L	R	+	2	0	NELL1	21091786	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.264000	0.78432	2.470000	0.83445	0.591000	0.81541	CGC	.		0.398	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	21135210	G	T	21135210	3	4	22	1	0	0	0	0	1	0	0	0	10372	1087	38	2	1426	2	NELL1	11	21135210	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	15146033	21135210	113871306	65	2958											
SLC17A6	57084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	22381017	22381017	+	Missense_Mutation	SNP	G	G	A	rs201082803		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:22381017G>A	ENST00000263160.3	+	4	954	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	173					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						TCCATCAGCAGCCAGAGTGCA	0.403																																					p.A173T		.											.	.	.	0			c.G517A						.						150	136	141					11																	22381017		2203	4300	6503	SO:0001583	missense	57084	exon4			TCAGCAGCCAGAG	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.517G>A	11.37:g.22381017G>A	ENSP00000263160:p.Ala173Thr	57	0		76	27	NM_020346	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027283	0.93518	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61392	0.11	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.73217	2.22	0.80722	D	1	P	0.34522	0.455	P	0.44811	0.461	T	0.69053	-0.5247	10	0.51188	T	0.08	.	19.2877	0.94085	0.0:0.0:1.0:0.0	.	173	Q9P2U8	VGLU2_HUMAN	T	173;61	ENSP00000263160:A173T	ENSP00000263160:A173T	A	+	1	0	SLC17A6	22337593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.638000	0.89438	0.585000	0.79938	GCC	0.001		0.403	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		A	22381017	G	A	22381017	3	1	22	1	0	0	0	0	1	0	0	0	14466	971	34	3	531	3	SLC17A6	11	22381017	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	1245807	22381017	112625499	66	2959											
RAG1	5896	ucsc.edu	37	11	36597457	36597457	+	Missense_Mutation	SNP	C	C	T	rs193922462		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:36597457C>T	ENST00000299440.5	+	2	2715	c.2603C>T	c.(2602-2604)gCa>gTa	p.A868V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	868					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)				ACTGTGGATGCAGTTTGTGAG	0.483									Familial Hemophagocytic Lymphohistiocytosis																												p.A868V	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												.	RAG1	151	0			c.C2603T						.						124	119	121					11																	36597457		2202	4298	6500	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TGGATGCAGTTTG	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.2603C>T	11.37:g.36597457C>T	ENSP00000299440:p.Ala868Val	24	0		34	4	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523789	0.44866	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86030	-2.06;-2.06	5.94	5.94	0.96194	.	0.119116	0.56097	D	0.000035	D	0.90731	0.7091	L	0.48174	1.505	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90702	0.4621	10	0.87932	D	0	.	20.4384	0.99098	0.0:1.0:0.0:0.0	.	868	P15918	RAG1_HUMAN	V	868	ENSP00000434610:A868V;ENSP00000299440:A868V	ENSP00000299440:A868V	A	+	2	0	RAG1	36554033	1.000000	0.71417	0.330000	0.25442	0.185000	0.23345	4.465000	0.60141	2.831000	0.97527	0.644000	0.83932	GCA	.		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		T	36597457	C	T	36597457	3	4	22	1	0	0	0	0	1	0	0	0	13048	710	25	3	2605	3	RAG1	11	36597457	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	14216440	36597457	98409059	67	2960											
OSBP	5007	hgsc.bcm.edu	37	11	59376002	59376002	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:59376002G>T	ENST00000263847.1	-	3	1256	c.777C>A	c.(775-777)aaC>aaA	p.N259K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	259					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGCTCGTTCGTTGACCTGTT	0.458																																					p.N259K		.											OSBP,caecum,carcinoma,0,1	OSBP	0	0			c.C777A						.						195	172	180					11																	59376002		2201	4295	6496	SO:0001583	missense	5007	exon3			TCGTTCGTTGACC	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.777C>A	11.37:g.59376002G>T	ENSP00000263847:p.Asn259Lys	15	0		43	2	NM_002556	Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761429	0.49468	.	.	ENSG00000110048	ENST00000263847	D	0.91351	-2.83	5.89	0.178	0.15058	.	0.046113	0.85682	D	0.000000	D	0.93232	0.7844	M	0.84683	2.71	0.48975	D	0.999737	D	0.58268	0.982	P	0.61874	0.895	D	0.90310	0.4336	10	0.16896	T	0.51	-29.8529	10.9182	0.47148	0.4336:0.0:0.5664:0.0	.	259	P22059	OSBP1_HUMAN	K	259	ENSP00000263847:N259K	ENSP00000263847:N259K	N	-	3	2	OSBP	59132578	0.274000	0.24191	0.999000	0.59377	0.998000	0.95712	-0.310000	0.08135	0.110000	0.17919	0.655000	0.94253	AAC	.		0.458	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			T	59376002	G	T	59376002	3	4	22	1	0	0	0	0	1	0	0	0	11312	1136	40	2	1694	2	OSBP	11	59376002	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	22778545	59376002	75630514	68	2961											
AHNAK	79026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62289154	62289154	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:62289154G>C	ENST00000378024.4	-	5	13009	c.12735C>G	c.(12733-12735)ttC>ttG	p.F4245L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4245					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)				CAGGCATCTTGAATTTAGGGC	0.488																																					p.F4245L		.											.	.	.	0			c.C12735G						.						210	219	216					11																	62289154		2202	4299	6501	SO:0001583	missense	79026	exon5			CATCTTGAATTTA	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.12735C>G	11.37:g.62289154G>C	ENSP00000367263:p.Phe4245Leu	104	0		136	56	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	9.682	1.149460	0.21288	.	.	ENSG00000124942	ENST00000378024	T	0.11821	2.74	4.88	-0.47	0.12131	.	0.000000	0.42964	D	0.000639	T	0.26919	0.0659	M	0.77313	2.365	0.37360	D	0.911171	D	0.76494	0.999	D	0.71184	0.972	T	0.46596	-0.9180	10	0.07482	T	0.82	.	9.5772	0.39465	0.4355:0.0:0.5645:0.0	.	4245	Q09666	AHNK_HUMAN	L	4245	ENSP00000367263:F4245L	ENSP00000367263:F4245L	F	-	3	2	AHNAK	62045730	0.354000	0.24912	0.991000	0.47740	0.000000	0.00434	-2.739000	0.00800	-0.091000	0.12440	-1.049000	0.02347	TTC	.		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62289154	G	C	62289154	3	2	22	1	0	0	0	0	1	0	0	0	414	1281	45	5	5057	5	AHNAK	11	62289154	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	2913152	62289154	72717362	69	2962											
LRP5	4041	hgsc.bcm.edu	37	11	68115583	68115583	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:68115583G>T	ENST00000294304.7	+	2	466	c.360G>T	c.(358-360)aaG>aaT	p.K120N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	120	Beta-propeller 1.				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						GGGTGGGCAAGAAGCTGTACT	0.632																																					p.K120N		.											.	.	.	0			c.G360T						.						115	103	107					11																	68115583		2200	4294	6494	SO:0001583	missense	4041	exon2			GGGCAAGAAGCTG	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.360G>T	11.37:g.68115583G>T	ENSP00000294304:p.Lys120Asn	44	0		55	4	NM_002335	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	2.731	-0.264476	0.05754	.	.	ENSG00000162337	ENST00000294304	D	0.83992	-1.79	3.71	2.79	0.32731	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000110	T	0.57975	0.2090	N	0.02266	-0.62	0.41886	D	0.990342	B	0.12013	0.005	B	0.17979	0.02	T	0.47548	-0.9109	10	0.25751	T	0.34	.	6.7839	0.23662	0.283:0.0:0.717:0.0	.	120	O75197	LRP5_HUMAN	N	120	ENSP00000294304:K120N	ENSP00000294304:K120N	K	+	3	2	LRP5	67872159	0.748000	0.28294	1.000000	0.80357	0.494000	0.33585	0.053000	0.14184	0.900000	0.36469	0.561000	0.74099	AAG	.		0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		T	68115583	G	T	68115583	3	4	22	1	0	0	0	0	1	0	0	0	8995	933	33	3	366	3	LRP5	11	68115583	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	5826429	68115583	66890933	70	2963											
SHANK2	22941	hgsc.bcm.edu	37	11	70332552	70332552	+	Silent	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:70332552G>A	ENST00000423696.2	-	15	2745	c.2709C>T	c.(2707-2709)taC>taT	p.Y903Y	SHANK2_ENST00000409161.1_Silent_p.Y686Y|SHANK2_ENST00000338508.4_Silent_p.Y1283Y|SHANK2_ENST00000449833.2_Silent_p.Y687Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	903					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)			GGTCGGTCTCGTACTTGTTCT	0.607																																					p.Y694Y		.											.	.	.	0			c.C2082T						.						100	99	99					11																	70332552		2200	4294	6494	SO:0001819	synonymous_variant	22941	exon10			GGTCTCGTACTTG	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.2709C>T	11.37:g.70332552G>A		34	0		50	3	NM_133266	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37																																																																																				.		0.607	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		A	70332552	G	A	70332552	2	1	22	1	0	0	0	0	0	0	0	1	14310	1140	40	1		1	SHANK2	11	70332552	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	2216969	70332552	64673964	71	2964											
GRM5	2915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	88323786	88323786	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:88323786G>C	ENST00000305447.4	-	6	1822	c.1673C>G	c.(1672-1674)cCc>cGc	p.P558R	GRM5_ENST00000305432.5_Missense_Mutation_p.P558R|GRM5_ENST00000393297.1_Missense_Mutation_p.P558R|GRM5_ENST00000418177.2_Missense_Mutation_p.P558R|GRM5_ENST00000455756.2_Missense_Mutation_p.P558R	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	558					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)	ATCATCAGTGGGCCAAGACCC	0.468																																					p.P558R		.											.	.	.	0			c.C1673G						.						130	99	109					11																	88323786		2201	4299	6500	SO:0001583	missense	2915	exon7			TCAGTGGGCCAAG	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.1673C>G	11.37:g.88323786G>C	ENSP00000306138:p.Pro558Arg	48	0		63	23	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214082	0.79352	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86	5.06	5.06	0.68205	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98212	1.0473	9	.	.	.	.	18.4206	0.90588	0.0:0.0:1.0:0.0	.	558;558	P41594-2;P41594	.;GRM5_HUMAN	R	558	ENSP00000402912:P558R;ENSP00000405690:P558R;ENSP00000305905:P558R;ENSP00000306138:P558R;ENSP00000376975:P558R	.	P	-	2	0	GRM5	87963434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.437000	0.97535	2.363000	0.80096	0.655000	0.94253	CCC	.		0.468	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		C	88323786	G	C	88323786	3	2	22	1	0	0	0	0	1	0	0	0	6827	1232	43	5	1981	5	GRM5	11	88323786	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	17991234	88323786	46682730	72	2965											
MMP20	9313	hgsc.bcm.edu	37	11	102465448	102465448	+	Missense_Mutation	SNP	G	G	A	rs148721639		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:102465448G>A	ENST00000260228.2	-	7	1006	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	352					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)	p.R332G(1)		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)	GTGCTGGGCCGAATTCCTGTC	0.438																																					p.R332W		.											MMP20,mouth,carcinoma,0,1	MMP20	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C994T						.	G	TRP/ARG	0,4406		0,0,2203	86	79	81		994	4.5	1	11	dbSNP_134	81	1,8597	1.2+/-3.3	0,1,4298	no	missense	MMP20	NM_004771.3	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	332/484	102465448	1,13003	2203	4299	6502	SO:0001583	missense	9313	exon7			TGGGCCGAATTCC	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.994C>T	11.37:g.102465448G>A	ENSP00000260228:p.Arg332Trp	26	0		40	2	NM_004771	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284352	0.40394	0.0	1.16E-4	ENSG00000137674	ENST00000260228	T	0.14266	2.52	5.44	4.47	0.54385	Hemopexin/matrixin (2);	0.772354	0.12481	N	0.465166	T	0.07369	0.0186	N	0.04508	-0.205	0.32882	D	0.510663	B	0.14805	0.011	B	0.04013	0.001	T	0.04005	-1.0985	10	0.66056	D	0.02	.	10.6375	0.45573	0.0:0.132:0.7177:0.1503	.	332	O60882	MMP20_HUMAN	W	332	ENSP00000260228:R332W	ENSP00000260228:R332W	R	-	1	2	MMP20	101970658	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	1.506000	0.35747	2.857000	0.98124	0.644000	0.83932	CGG	0.000		0.438	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			A	102465448	G	A	102465448	3	1	22	1	0	0	0	0	1	0	0	0	9697	1057	37	1	473	1	MMP20	11	102465448	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	14141662	102465448	32541068	73	2966											
NCAM1	4684	hgsc.bcm.edu	37	11	113105856	113105856	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:113105856G>A	ENST00000533760.1	+	13	2010	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	NCAM1_ENST00000316851.7_Missense_Mutation_p.A589T|NCAM1_ENST00000401611.2_Missense_Mutation_p.A598T|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	599	Ig-like C2-type 5.				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)		TGAGATCAGCGCGGCCTCCGA	0.627																																					p.A625T		.											NCAM1_ENST00000433634,colon,carcinoma,0,4	NCAM1_ENST00000433634	0	0			c.G1873A						.						29	33	31					11																	113105856		2019	4154	6173	SO:0001583	missense	4684	exon16			ATCAGCGCGGCCT		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.1411G>A	11.37:g.113105856G>A	ENSP00000473281:p.Ala471Thr	41	0		45	2	NM_001242607	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	G	10.20	1.283918	0.23392	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.54479	1.05;0.57	5.84	0.714	0.18180	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.397140	0.24141	N	0.041176	T	0.23649	0.0572	.	.	.	0.21950	N	0.999452	P;P;B;B	0.38473	0.577;0.633;0.282;0.427	B;B;B;B	0.29176	0.077;0.072;0.033;0.099	T	0.12941	-1.0528	9	0.19590	T	0.45	-48.1	2.5037	0.04639	0.4333:0.1226:0.3306:0.1136	.	599;589;599;589	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	T	471;598;589;33	ENSP00000384055:A598T;ENSP00000318472:A589T	ENSP00000318472:A589T	A	+	1	0	NCAM1	112611066	0.000000	0.05858	0.137000	0.22149	0.878000	0.50629	-0.176000	0.09811	-0.108000	0.12066	-0.218000	0.12543	GCG	.		0.627	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		A	113105856	G	A	113105856	3	1	22	1	0	0	0	0	1	0	0	0	10241	1087	38	1	1850	1	NCAM1	11	113105856	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	10640408	113105856	21900660	74	2967											
ZBTB44	29068	hgsc.bcm.edu	37	11	130108461	130108461	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr11:130108461G>T	ENST00000357899.4	-	4	1417	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	ZBTB44_ENST00000397753.1_Missense_Mutation_p.P382H|ZBTB44_ENST00000530205.1_Missense_Mutation_p.P382H|ZBTB44_ENST00000525842.1_Missense_Mutation_p.P382H			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	382					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)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	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;0.0192)|Lung(977;0.235)		GCTGGTGGAAGGAGCAATGTA	0.448																																					p.P382H		.											.	.	.	0			c.C1145A						.						84	78	80					11																	130108461		1912	4138	6050	SO:0001583	missense	29068	exon4			GTGGAAGGAGCAA	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1145C>A	11.37:g.130108461G>T	ENSP00000350574:p.Pro382His	46	0		61	4	NM_014155	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.063006|5.063006	0.93898|0.93898	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|T;T;T;T;T	.|0.16743	.|2.32;2.66;2.38;2.66;2.32	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31575|0.31575	0.0801|0.0801	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.998;0.99;0.999	T|T	0.02184|0.02184	-1.1199|-1.1199	5|10	.|0.44086	.|T	.|0.13	.|.	20.2626|20.2626	0.98452|0.98452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;382;382	.|Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;ZBT44_HUMAN;.	I|H	236|382	.|ENSP00000433457:P382H;ENSP00000380861:P382H;ENSP00000408079:P382H;ENSP00000350574:P382H;ENSP00000434177:P382H	.|ENSP00000350574:P382H	L|P	-|-	1|2	0|0	ZBTB44|ZBTB44	129613671|129613671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.434000|9.434000	0.97515|0.97515	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	CTT|CCT	.		0.448	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		T	130108461	G	T	130108461	3	4	22	1	0	0	0	0	1	0	0	0	17593	1000	35	3	228	3	ZBTB44	11	130108461	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	17002605	130108461	4898055	75	2968											
WNK1	65125	hgsc.bcm.edu	37	12	989117	989117	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr12:989117G>A	ENST00000315939.6	+	11	3395	c.2752G>A	c.(2752-2754)Gca>Aca	p.A918T	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1416T|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.A511T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	918					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)			CCTACAACCAGCAGTTCAGTC	0.512																																					p.A918T	Colon(19;451 567 6672 12618 28860)	.											WNK1,bladder,carcinoma,0,1	WNK1	0	0			c.G2752A						.						118	104	109					12																	989117		2203	4300	6503	SO:0001583	missense	65125	exon11			CAACCAGCAGTTC	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.2752G>A	12.37:g.989117G>A	ENSP00000313059:p.Ala918Thr	36	0		44	2	NM_018979	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632831	0.29068	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.1	3.24	0.37175	.	0.310296	0.27577	N	0.018749	T	0.08044	0.0201	N	0.17082	0.46	0.27397	N	0.954958	B	0.06786	0.001	B	0.04013	0.001	T	0.35276	-0.9795	10	0.12766	T	0.61	-5.8702	5.1545	0.15027	0.0739:0.1248:0.5449:0.2564	.	918	Q9H4A3	WNK1_HUMAN	T	918;1416;511;188	ENSP00000313059:A918T;ENSP00000433548:A1416T;ENSP00000341292:A511T;ENSP00000439552:A188T	ENSP00000313059:A918T	A	+	1	0	WNK1	859378	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.019000	0.41001	0.695000	0.31675	-0.319000	0.08680	GCA	.		0.512	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		A	989117	G	A	989117	3	1	22	1	0	0	0	0	1	0	0	0	17426	971	34	3	4296	3	WNK1	12	989117	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		989117	132862778	76	2969											
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6153555	6153555	+	Missense_Mutation	SNP	G	G	A	rs61748471		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr12:6153555G>A	ENST00000261405.5	-	18	2598	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	782	Amino-terminal.|TIL 3.				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)	CCTTCAGCCCGCAGGTTGTCA	0.577																																					p.R782W		.											.	.	.	0			c.C2344T	GRCh37	CM910391	VWF	M	rs61748471	.	G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	89	74	79	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2344	0.9	0	12	dbSNP_129	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	VWF	NM_000552.3	101	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	782/2814	6153555	3,13003	2203	4300	6503	SO:0001583	missense	7450	exon18			CAGCCCGCAGGTT		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.2344C>T	12.37:g.6153555G>A	ENSP00000261405:p.Arg782Trp	46	0		93	32	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246859	0.39697	4.54E-4	1.16E-4	ENSG00000110799	ENST00000261405	T	0.79141	-1.24	4.19	0.939	0.19506	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.743551	0.10988	N	0.611961	D	0.84215	0.5423	M	0.74881	2.28	0.09310	N	0.999999	D	0.69078	0.997	P	0.57846	0.828	T	0.74309	-0.3707	10	0.45353	T	0.12	.	12.9082	0.58164	0.0:0.0:0.394:0.6059	rs61748471	782	P04275	VWF_HUMAN	W	782	ENSP00000261405:R782W	ENSP00000261405:R782W	R	-	1	2	VWF	6023816	0.730000	0.28100	0.020000	0.16555	0.477000	0.33069	0.967000	0.29344	-0.021000	0.14009	0.563000	0.77884	CGG	0.000		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6153555	G	A	6153555	3	1	22	1	0	0	0	0	1	0	0	0	17295	1086	38	1	6237	1	VWF	12	6153555	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	5164438	6153555	127698340	77	2970											
LRRK2	120892	hgsc.bcm.edu	37	12	40668732	40668732	+	Silent	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr12:40668732G>T	ENST00000298910.7	+	16	1936	c.1878G>T	c.(1876-1878)ctG>ctT	p.L626L	LRRK2_ENST00000343742.2_Silent_p.L626L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	626					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)				CTGGACATCTGCTGGCAAAAA	0.333																																					p.L626L		.											.	.	.	0			c.G1878T						.						102	106	105					12																	40668732		2203	4300	6503	SO:0001819	synonymous_variant	120892	exon16			ACATCTGCTGGCA	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.1878G>T	12.37:g.40668732G>T		33	0		97	4	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																			.		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40668732	G	T	40668732	2	4	22	1	0	0	0	0	0	0	0	1	9068	1306	46	3		3	LRRK2	12	40668732	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	34515177	40668732	93183163	78	2971											
KRT74	121391	hgsc.bcm.edu	37	12	52961454	52961454	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr12:52961454G>T	ENST00000305620.2	-	8	1426	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	KRT74_ENST00000549343.1_Missense_Mutation_p.S474Y	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	460	Tail.				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)		GATGCTCACAGAGGATGGATT	0.463																																					p.S460Y		.											.	.	.	0			c.C1379A						.						66	62	64					12																	52961454		2203	4300	6503	SO:0001583	missense	121391	exon8			CTCACAGAGGATG	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.1379C>A	12.37:g.52961454G>T	ENSP00000307240:p.Ser460Tyr	40	0		64	4	NM_175053	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698897	0.68501	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.83250	-1.7;-1.66	5.12	5.12	0.69794	.	0.000000	0.33309	N	0.005050	D	0.84642	0.5517	M	0.62723	1.935	0.80722	D	1	P	0.50943	0.94	P	0.48030	0.564	D	0.86934	0.2075	10	0.87932	D	0	.	15.8213	0.78648	0.0:0.0:1.0:0.0	.	460	Q7RTS7	K2C74_HUMAN	Y	474;460	ENSP00000447447:S474Y;ENSP00000307240:S460Y	ENSP00000307240:S460Y	S	-	2	0	KRT74	51247721	0.014000	0.17966	0.712000	0.30502	0.835000	0.47333	1.516000	0.35856	2.550000	0.86006	0.563000	0.77884	TCT	.		0.463	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		T	52961454	G	T	52961454	3	4	22	1	0	0	0	0	1	0	0	0	8514	942	33	3	218	3	KRT74	12	52961454	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	12292722	52961454	80890441	79	2972											
R3HDM2	22864	hgsc.bcm.edu	37	12	57663156	57663156	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr12:57663156G>A	ENST00000347140.3	-	16	2012	c.1622C>T	c.(1621-1623)gCc>gTc	p.A541V	R3HDM2_ENST00000402412.1_Missense_Mutation_p.A555V|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_Missense_Mutation_p.A236V|R3HDM2_ENST00000358907.2_Missense_Mutation_p.A541V|R3HDM2_ENST00000413953.2_Missense_Mutation_p.A268V|R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000403821.2_Missense_Mutation_p.A575V			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	541	Gln-rich.					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						GGGGCTATAGGCCACCGGGTG	0.527																																					p.A541V		.											.	.	.	0			c.C1622T						.						97	101	99					12																	57663156		2203	4300	6503	SO:0001583	missense	22864	exon14			CTATAGGCCACCG	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.1622C>T	12.37:g.57663156G>A	ENSP00000317903:p.Ala541Val	68	0		95	4	NM_014925	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	CCDS8937.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.366421|4.366421	0.82463|0.82463	.|.	.|.	ENSG00000179912|ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821|ENST00000466401	T;T;T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.059240|.	0.64402|.	D|.	0.000002|.	T|T	0.54615|0.54615	0.1869|0.1869	N|N	0.22421|0.22421	0.69|0.69	0.53005|0.53005	D|D	0.999961|0.999961	B;B;B;B;B|.	0.31548|.	0.328;0.191;0.191;0.061;0.328|.	B;B;B;B;B|.	0.31101|.	0.124;0.049;0.049;0.03;0.079|.	T|T	0.47394|0.47394	-0.9121|-0.9121	10|5	0.12766|.	T|.	0.61|.	-11.1643|-11.1643	17.9125|17.9125	0.88938|0.88938	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;575;555;541;268|.	B4DDZ2;B5MCG9;B5MCU0;Q9Y2K5;E9PAL1|.	.;.;.;R3HD2_HUMAN;.|.	V|S	268;268;541;555;541;236;306;575|139	ENSP00000409146:A268V;ENSP00000377400:A268V;ENSP00000317903:A541V;ENSP00000385839:A555V;ENSP00000351784:A541V;ENSP00000408536:A236V;ENSP00000394676:A306V;ENSP00000385169:A575V|.	ENSP00000317903:A541V|.	A|P	-|-	2|1	0|0	R3HDM2|R3HDM2	55949423|55949423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.855000|5.855000	0.69510|0.69510	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCC|CCT	.		0.527	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		A	57663156	G	A	57663156	3	1	22	1	0	0	0	0	1	0	0	0	12933	1203	42	3	1344	3	R3HDM2	12	57663156	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	4701702	57663156	76188739	80	2973											
MGAT4C	25834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	86373133	86373133	+	Silent	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr12:86373133C>T	ENST00000604798.1	-	8	2575	c.1371G>A	c.(1369-1371)agG>agA	p.R457R	MGAT4C_ENST00000393205.2_Silent_p.R486R|MGAT4C_ENST00000549405.2_Silent_p.R457R|MGAT4C_ENST00000332156.1_Silent_p.R457R|MGAT4C_ENST00000552808.2_Silent_p.R457R|MGAT4C_ENST00000548651.1_Silent_p.R457R			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	457					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						TGACATATATCCTCATACAAT	0.313																																					p.R457R		.											.	.	.	0			c.G1371A						.						82	82	82					12																	86373133		2203	4299	6502	SO:0001819	synonymous_variant	25834	exon7			ATATATCCTCATA		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.1371G>A	12.37:g.86373133C>T		39	0		96	30	NM_013244	B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	CCDS9030.1																																																																																			.		0.313	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		T	86373133	C	T	86373133	2	4	22	1	0	0	0	0	0	0	0	1	9585	854	30	3		3	MGAT4C	12	86373133	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	28709977	86373133	47478762	81	2974											
CHFR	55743	hgsc.bcm.edu	37	12	133428224	133428224	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr12:133428224G>T	ENST00000432561.2	-	12	1581	c.1508C>A	c.(1507-1509)cCg>cAg	p.P503Q	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.P491Q|CHFR_ENST00000315585.7_Missense_Mutation_p.P462Q|CHFR_ENST00000537522.1_Missense_Mutation_p.P125Q|CHFR_ENST00000266880.7_Missense_Mutation_p.P502Q|CHFR_ENST00000443047.2_Missense_Mutation_p.P411Q			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	503					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P462L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGCGACACGCGGGTCCTGCTC	0.657																																					p.P503Q		.											CHFR,NS,carcinoma,+1,1	CHFR	+1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C1508A						.						83	89	87					12																	133428224		2203	4299	6502	SO:0001583	missense	55743	exon12			ACACGCGGGTCCT	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1508C>A	12.37:g.133428224G>T	ENSP00000392395:p.Pro503Gln	31	0		43	2	NM_001161344	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832310	0.32421	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.93	5.93	0.95920	.	0.114783	0.64402	D	0.000013	T	0.49389	0.1554	L	0.42245	1.32	0.45066	D	0.998085	D;B;B;B;B	0.54601	0.967;0.076;0.046;0.076;0.42	D;B;B;B;B	0.63033	0.91;0.076;0.034;0.076;0.201	T	0.38222	-0.9671	10	0.66056	D	0.02	-16.0612	20.3409	0.98764	0.0:0.0:1.0:0.0	.	411;502;503;491;462	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	Q	462;411;491;502;125;303;503	ENSP00000320557:P462Q;ENSP00000416431:P411Q;ENSP00000398735:P491Q;ENSP00000266880:P502Q;ENSP00000442327:P125Q;ENSP00000392395:P503Q	ENSP00000266880:P502Q	P	-	2	0	CHFR	131938297	1.000000	0.71417	0.958000	0.39756	0.022000	0.10575	4.310000	0.59141	2.814000	0.96858	0.655000	0.94253	CCG	.		0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			T	133428224	G	T	133428224	3	4	22	1	0	0	0	0	1	0	0	0	3344	1116	39	2	514	2	CHFR	12	133428224	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	47055091	133428224	423671	82	2975											
FLT3	2322	hgsc.bcm.edu	37	13	28631553	28631553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr13:28631553C>A	ENST00000241453.7	-	4	496	c.415G>T	c.(415-417)Gga>Tga	p.G139*	FLT3_ENST00000380982.4_Nonsense_Mutation_p.G139*|FLT3_ENST00000537084.1_Nonsense_Mutation_p.G139*	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	139					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)	AGGTATTCTCCAGCTTGGGTT	0.363			"Mis, O"		"AML, ALL"																																p.G139X		.		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	.	.	0			c.G415T						.						123	124	124					13																	28631553		2203	4300	6503	SO:0001587	stop_gained	2322	exon4			ATTCTCCAGCTTG	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.415G>T	13.37:g.28631553C>A	ENSP00000241453:p.Gly139*	45	0		59	4	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	37	6.435022	0.97564	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.231	0.89934	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000241453:G139X	G	-	1	0	FLT3	27529553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.672000	0.61597	2.739000	0.93911	0.561000	0.74099	GGA	.		0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			A	28631553	C	A	28631553	4	1	22	1	0	0	0	0	0	1	0	0	5964	603	21	3	2650	3	FLT3	13	28631553	Nonsense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		28631553	86538325	83	2976											
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	29599613	29599613	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr13:29599613C>G	ENST00000431530.3	+	1	866	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	260						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						CTCAGAGACCCAAACAGTGGG	0.522																																					p.Q270E		.											.	.	.	0			c.C808G						.						42	44	43					13																	29599613		2179	4283	6462	SO:0001583	missense	23281	exon1			GAGACCCAAACAG	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.808C>G	13.37:g.29599613C>G	ENSP00000392057:p.Gln270Glu	15	0		15	5	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	10.35	1.324977	0.24080	.	.	ENSG00000132938	ENST00000431530	T	0.11169	2.8	5.49	3.7	0.42460	.	0.941231	0.08771	N	0.896271	T	0.09512	0.0234	L	0.36672	1.1	0.09310	N	0.999996	B	0.28291	0.206	B	0.28011	0.085	T	0.41251	-0.9519	9	.	.	.	.	6.4362	0.21825	0.3408:0.5746:0.0:0.0846	.	260	Q5JR59	MTUS2_HUMAN	E	270	ENSP00000392057:Q270E	.	Q	+	1	0	MTUS2	28497613	0.006000	0.16342	0.006000	0.13384	0.009000	0.06853	1.599000	0.36751	0.625000	0.30304	-0.310000	0.09108	CAA	.		0.522	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		G	29599613	C	G	29599613	3	3	22	1	0	0	0	0	1	0	0	0	10004	595	21	5	810	5	MTUS2	13	29599613	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	968060	29599613	85570265	84	2977											
FNDC3A	22862	hgsc.bcm.edu;broad.mit.edu	37	13	49688844	49688844	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr13:49688844G>T	ENST00000492622.2	+	4	534	c.229G>T	c.(229-231)Gtg>Ttg	p.V77L	FNDC3A_ENST00000398316.3_Missense_Mutation_p.V21L|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V77L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	77	Pro-rich.				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)		TCCTATCTATGTGCCTCCTGG	0.368																																					p.V77L		.											.	.	.	0			c.G229T						.						312	299	303					13																	49688844		2203	4300	6503	SO:0001583	missense	22862	exon4			ATCTATGTGCCTC	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.229G>T	13.37:g.49688844G>T	ENSP00000417257:p.Val77Leu	45	0		54	4	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759926	0.49468	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.80994	-1.44;-1.44;1.38	5.05	4.21	0.49690	.	0.371356	0.22147	N	0.063964	T	0.74405	0.3712	L	0.45352	1.415	0.48185	D	0.999605	B;B;B	0.16166	0.016;0.002;0.003	B;B;B	0.18263	0.021;0.011;0.009	T	0.71616	-0.4539	10	0.72032	D	0.01	-2.5122	12.2972	0.54854	0.083:0.0:0.917:0.0	.	21;77;77	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	L	77;13;77;21	ENSP00000417257:V77L;ENSP00000441831:V77L;ENSP00000381362:V21L	ENSP00000338579:V13L	V	+	1	0	FNDC3A	48586845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.151000	0.77411	1.152000	0.42452	0.551000	0.68910	GTG	.		0.368	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		T	49688844	G	T	49688844	3	4	22	1	0	0	0	0	1	0	0	0	5991	1377	48	3	250	3	FNDC3A	13	49688844	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	20089231	49688844	65481034	85	2978											
CAB39L	81617	bcgsc.ca	37	13	49951237	49951237	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr13:49951237C>T	ENST00000355854.4	-	3	639	c.142G>A	c.(142-144)Gca>Aca	p.A48T	CAB39L_ENST00000410043.1_Missense_Mutation_p.A48T|CAB39L_ENST00000347776.5_Missense_Mutation_p.A48T|CAB39L_ENST00000409308.1_Missense_Mutation_p.A48T	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	48					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|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;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TCTTTCATTGCTTGCAGTGAT	0.408																																					p.A48T													.	CAB39L	35	0			c.G142A						.						111	111	111					13																	49951237		2203	4300	6503	SO:0001583	missense	81617	exon3			TCATTGCTTGCAG	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.142G>A	13.37:g.49951237C>T	ENSP00000348113:p.Ala48Thr	54	0		24	3	NM_030925	Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631227	0.46944	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041;ENST00000413278;ENST00000409082	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	5.53	5.53	0.82687	Armadillo-type fold (1);	0.052374	0.85682	D	0.000000	T	0.32793	0.0841	L	0.50333	1.59	0.80722	D	1	P	0.34757	0.467	B	0.35931	0.214	T	0.03898	-1.0994	9	.	.	.	-6.818	18.4498	0.90699	0.0:1.0:0.0:0.0	.	48	Q9H9S4	CB39L_HUMAN	T	48;48;45;48;11;48;48;48;48	ENSP00000348113:A48T;ENSP00000261669:A48T;ENSP00000386375:A48T;ENSP00000416719:A11T;ENSP00000386328:A48T;ENSP00000409253:A48T;ENSP00000404028:A48T;ENSP00000386979:A48T	.	A	-	1	0	CAB39L	48849238	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.942000	0.63547	2.596000	0.87737	0.650000	0.86243	GCA	.		0.408	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		T	49951237	C	T	49951237	3	4	22	1	0	0	0	0	1	0	0	0	2533	797	28	3	899	3	CAB39L	13	49951237	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	262393	49951237	65218641	86	2979											
OR10G3	26533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	22038258	22038258	+	Silent	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr14:22038258C>A	ENST00000303532.1	-	1	617	c.618G>T	c.(616-618)gtG>gtT	p.V206V		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	206						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)		TGGCAACCACCACCCCAATGT	0.527																																					p.V206V		.											OR10G3,NS,carcinoma,0,1	OR10G3	0	0			c.G618T						.						188	181	183					14																	22038258		2203	4300	6503	SO:0001819	synonymous_variant	26533	exon1			AACCACCACCCCA		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.618G>T	14.37:g.22038258C>A		42	0		50	15	NM_001005465	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																			.		0.527	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			A	22038258	C	A	22038258	2	1	22	1	0	0	0	0	0	0	0	1	10939	581	21	3		3	OR10G3	14	22038258	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		22038258	85311282	87	2980											
ZFYVE26	23503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	68265039	68265039	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr14:68265039C>G	ENST00000347230.4	-	11	2078	c.1940G>C	c.(1939-1941)aGc>aCc	p.S647T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S647T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	647					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)		CTTCACATGGCTTGGCATTGT	0.498																																					p.S647T		.											.	.	.	0			c.G1940C						.						94	97	96					14																	68265039		2203	4300	6503	SO:0001583	missense	23503	exon11			ACATGGCTTGGCA	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.1940G>C	14.37:g.68265039C>G	ENSP00000251119:p.Ser647Thr	70	0		48	6	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	6.712	0.499987	0.12762	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29142	1.73;1.58	5.71	2.58	0.30949	.	0.501287	0.22387	N	0.060736	T	0.26882	0.0658	L	0.57536	1.79	0.09310	N	1	B;B;B	0.29301	0.241;0.241;0.01	B;B;B	0.30495	0.085;0.116;0.002	T	0.16867	-1.0388	10	0.29301	T	0.29	-1.0234	7.2639	0.26219	0.0:0.5293:0.0:0.4707	.	647;647;647	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	T	647;626;647	ENSP00000251119:S647T;ENSP00000450603:S647T	ENSP00000251119:S647T	S	-	2	0	ZFYVE26	67334792	0.000000	0.05858	0.002000	0.10522	0.399000	0.30720	0.213000	0.17521	0.221000	0.20879	0.655000	0.94253	AGC	.		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		G	68265039	C	G	68265039	3	3	22	1	0	0	0	0	1	0	0	0	17716	797	28	5	5807	5	ZFYVE26	14	68265039	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	46226781	68265039	39084501	88	2981											
NIPA1	123606	hgsc.bcm.edu	37	15	23049093	23049093	+	Silent	SNP	G	G	T	rs143840469		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr15:23049093G>T	ENST00000337435.4	-	5	750	c.726C>A	c.(724-726)atC>atA	p.I242I	NIPA1_ENST00000538684.1_Silent_p.I72I|NIPA1_ENST00000561183.1_Silent_p.I167I|NIPA1_ENST00000437912.2_Silent_p.I167I	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	242					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TGAACTGGACGATGATGCTGC	0.602																																					p.I242I		.											NIPA1,NS,carcinoma,0,1	NIPA1	0	0			c.C726A						.						116	86	96					15																	23049093		2203	4300	6503	SO:0001819	synonymous_variant	123606	exon5			CTGGACGATGATG	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.726C>A	15.37:g.23049093G>T		12	0		19	2	NM_144599	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Silent	SNP	ENST00000337435.4	37	CCDS10011.1																																																																																			.		0.602	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		T	23049093	G	T	23049093	2	4	22	1	0	0	0	0	0	0	0	1	10461	1048	37	2		2	NIPA1	15	23049093	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		23049093	79482299	89	2982											
ANXA2	302	ucsc.edu;bcgsc.ca	37	15	60644601	60644601	+	Silent	SNP	G	G	A	rs529527729		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr15:60644601G>A	ENST00000396024.3	-	10	822	c.663C>T	c.(661-663)agC>agT	p.S221S	ANXA2_ENST00000451270.2_Silent_p.S221S|ANXA2_ENST00000332680.4_Silent_p.S239S|ANXA2_ENST00000421017.2_Silent_p.S221S	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	221					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)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	GGTGGGGCACGCTCCGCTCGG	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		18487	0		0	False		,,,				2504	0				p.S239S													.	ANXA2	28	0			c.C717T						.						51	46	48					15																	60644601		2203	4300	6503	SO:0001819	synonymous_variant	302	exon9			GGGCACGCTCCGC	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.663C>T	15.37:g.60644601G>A		24	0		26	4	NM_001002858	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Silent	SNP	ENST00000396024.3	37	CCDS10175.1																																																																																			.		0.577	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		A	60644601	G	A	60644601	2	1	22	1	0	0	0	0	0	0	0	1	718	1078	38	1		1	ANXA2	15	60644601	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	37595508	60644601	41886791	90	2983											
CELF6	60677	hgsc.bcm.edu;bcgsc.ca	37	15	72582500	72582500	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr15:72582500G>A	ENST00000569547.1	-	4	562	c.491C>T	c.(490-492)aCg>aTg	p.T164M	CELF6_ENST00000287202.5_Missense_Mutation_p.T164M|CELF6_ENST00000567083.1_Missense_Mutation_p.T164M|CELF6_ENST00000539635.1_Missense_Mutation_p.T25M|CELF6_ENST00000543764.2_Missense_Mutation_p.T49M|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.T51M|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	164	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCGCAGGACCGTGCACTCCTC	0.607																																					p.T164M		.											CELF6,NS,carcinoma,0,1	CELF6	0	0			c.C491T						.						81	68	73					15																	72582500		2199	4297	6496	SO:0001583	missense	60677	exon4			AGGACCGTGCACT	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.491C>T	15.37:g.72582500G>A	ENSP00000454749:p.Thr164Met	64	0		61	4	NM_001172684	B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	CCDS10242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.081825|4.081825	0.76528|0.76528	.|.	.|.	ENSG00000140488|ENSG00000140488	ENST00000379915|ENST00000287202;ENST00000437872;ENST00000543764;ENST00000395258;ENST00000539635	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.33411|0.33411	0.0862|0.0862	L|L	0.34521|0.34521	1.04|1.04	0.53005|0.53005	D|D	0.999968|0.999968	.|D;P;D;D;D	.|0.89917	.|1.0;0.916;1.0;1.0;1.0	.|D;P;D;D;D	.|0.91635	.|0.947;0.727;0.938;0.989;0.999	T|T	0.06607|0.06607	-1.0817|-1.0817	6|10	0.72032|0.87932	D|D	0.01|0	-14.6692|-14.6692	17.8368|17.8368	0.88700|0.88700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|164;49;51;25;164	.|B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.|.;.;.;.;CELF6_HUMAN	W|M	42|164;164;49;51;25	.|ENSP00000287202:T164M;ENSP00000439956:T49M;ENSP00000378677:T51M;ENSP00000443162:T25M	ENSP00000369247:R42W|ENSP00000287202:T164M	R|T	-|-	1|2	2|0	CELF6|CELF6	70369554|70369554	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.993000|0.993000	0.82548|0.82548	9.476000|9.476000	0.97823|0.97823	2.469000|2.469000	0.83416|0.83416	0.561000|0.561000	0.74099|0.74099	CGG|ACG	.		0.607	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		A	72582500	G	A	72582500	3	1	22	1	0	0	0	0	1	0	0	0	3227	1145	40	1	990	1	CELF6	15	72582500	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	11937899	72582500	29948892	91	2984											
NEO1	4756	bcgsc.ca	37	15	73541487	73541487	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr15:73541487G>T	ENST00000339362.5	+	11	2140	c.1693G>T	c.(1693-1695)Ggc>Tgc	p.G565C	NEO1_ENST00000261908.6_Missense_Mutation_p.G565C|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.G565C|NEO1_ENST00000560262.1_Missense_Mutation_p.G565C			Q92859	NEO1_HUMAN	neogenin 1	565	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G565S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCAGTGTCTGGCAATGGGGA	0.433																																					p.G565C													.	NEO1	102	1	Substitution - Missense(1)	lung(1)	c.G1693T						.						101	101	101					15																	73541487		2198	4297	6495	SO:0001583	missense	4756	exon10			GTGTCTGGCAATG	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1693G>T	15.37:g.73541487G>T	ENSP00000341198:p.Gly565Cys	60	0		73	5	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853496	0.91355	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.61859	0.07;0.07	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.046152	0.85682	D	0.000000	T	0.73297	0.3569	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.988;0.998	D;D;D;D	0.79108	0.992;0.939;0.911;0.939	T	0.73711	-0.3897	10	0.56958	D	0.05	-15.5033	19.0691	0.93125	0.0:0.0:1.0:0.0	.	565;565;303;565	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	C	565;303;565	ENSP00000341198:G565C;ENSP00000261908:G565C	ENSP00000261908:G565C	G	+	1	0	NEO1	71328540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.484000	0.97940	2.601000	0.87937	0.650000	0.86243	GGC	.		0.433	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		T	73541487	G	T	73541487	3	4	22	1	0	0	0	0	1	0	0	0	10375	1348	47	3	1731	3	NEO1	15	73541487	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	958987	73541487	28989905	92	2985											
C16orf78	123970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	49412407	49412407	+	Silent	SNP	C	C	T	rs143423404		TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr16:49412407C>T	ENST00000299191.3	+	3	414	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	99						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCAGGAAGGACGCCGCCTCCT	0.572																																					p.D99D		.											.	.	.	0			c.C297T						.	C		0,4398		0,0,2199	42	37	39		297	-5.1	0	16	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C16orf78	NM_144602.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		99/266	49412407	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	123970	exon3			GAAGGACGCCGCC	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.297C>T	16.37:g.49412407C>T		65	0		46	7	NM_144602		Silent	SNP	ENST00000299191.3	37	CCDS10738.1																																																																																			0.000		0.572	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		T	49412407	C	T	49412407	2	4	22	1	0	0	0	0	0	0	0	1	1840	535	19	1		1	C16orf78	16	49412407	Silent	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		49412407	40942346	93	2986											
BCL6B	255877	hgsc.bcm.edu	37	17	6928019	6928019	+	Missense_Mutation	SNP	C	C	G	rs146207245|rs55799550	byFrequency	TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:6928019C>G	ENST00000293805.5	+	4	793	c.701C>G	c.(700-702)tCc>tGc	p.S234C		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	234	Ser-rich.				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						GACGAGGCCTCcagcagcagc	0.592																																					p.S234C		.											.,22	.	85	0			c.C701G						.						17	22	20					17																	6928019		2097	4186	6283	SO:0001583	missense	255877	exon4			AGGCCTCCAGCAG	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.701C>G	17.37:g.6928019C>G	ENSP00000293805:p.Ser234Cys	34	1		64	2	NM_181844	Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854566	0.32791	.	.	ENSG00000161940	ENST00000293805	T	0.08807	3.05	5.18	4.19	0.49359	.	0.565883	0.16303	N	0.220362	T	0.06872	0.0175	N	0.22421	0.69	0.23735	N	0.996983	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	10	0.49607	T	0.09	.	11.2513	0.49028	0.0:0.8073:0.1927:0.0	.	234	Q8N143	BCL6B_HUMAN	C	234	ENSP00000293805:S234C	ENSP00000293805:S234C	S	+	2	0	BCL6B	6868743	0.071000	0.21146	0.857000	0.33713	0.641000	0.38312	1.290000	0.33319	1.368000	0.46115	0.655000	0.94253	TCC	.		0.592	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		G	6928019	C	G	6928019	3	3	22	1	0	0	0	0	1	0	0	0	1378	855	30	5	711	5	BCL6B	17	6928019	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		6928019	74267191	94	2987											
PIGS	94005	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	26898172	26898174	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:26898172_26898174delGAA	ENST00000308360.7	-	2	442_444	c.67_69delTTC	c.(67-69)ttcdel	p.F23del	PIGS_ENST00000543734.1_Intron|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000395346.2_In_Frame_Del_p.F15del	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	23					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCACCGCAGCGAAGAAGAGGGCG	0.685																																					p.23_24del		.											.	.	.	0			c.68_70del						.																																			SO:0001651	inframe_deletion	94005	exon2			CGCAGCGAAGAAG		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.67_69delTTC	17.37:g.26898175_26898177delGAA	ENSP00000309430:p.Phe23del	52	0		58	16	NM_033198	Q6UVX6	In_Frame_Del	DEL	ENST00000308360.7	37	CCDS11235.1																																																																																			.		0.685	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		-	26898174	GAA	-	26898172	7	5	22	1	0	1	0	1	0	0	0	0	11937	1049	37	0	1642	0	PIGS	17	26898172	In_Frame_Del	DEL	GAA	TCGA-W5-AA34-01A-11D-A417-09	19970153	26898172	54297038	95	2988											
MED1	5469	bcgsc.ca	37	17	37565938	37565938	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:37565938C>T	ENST00000300651.6	-	17	2759	c.2536G>A	c.(2536-2538)Gct>Act	p.A846T	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGGCTTCCAGCAGCATCTGCA	0.413										HNSCC(31;0.082)																											p.A846T	Pancreas(21;279 768 2492 4877 24026)												.	MED1	123	0			c.G2536A						.						61	64	63					17																	37565938		2203	4300	6503	SO:0001583	missense	5469	exon17			TTCCAGCAGCATC	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2536G>A	17.37:g.37565938C>T	ENSP00000300651:p.Ala846Thr	36	0		46	4	NM_004774	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	9.548	1.115177	0.20795	.	.	ENSG00000125686	ENST00000300651	T	0.34275	1.37	6.03	2.19	0.27852	.	.	.	.	.	T	0.20941	0.0504	N	0.24115	0.695	0.37144	D	0.901847	B	0.06786	0.001	B	0.04013	0.001	T	0.09487	-1.0672	9	0.27785	T	0.31	-3.315	6.593	0.22658	0.0:0.5457:0.1268:0.3275	.	846	Q15648	MED1_HUMAN	T	846	ENSP00000300651:A846T	ENSP00000300651:A846T	A	-	1	0	MED1	34819464	0.663000	0.27448	1.000000	0.80357	0.998000	0.95712	0.462000	0.21956	0.687000	0.31509	0.655000	0.94253	GCT	.		0.413	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		T	37565938	C	T	37565938	3	4	22	1	0	0	0	0	1	0	0	0	9463	710	25	3	2213	3	MED1	17	37565938	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	10667766	37565938	43629272	96	2989											
EFTUD2	9343	hgsc.bcm.edu	37	17	42937901	42937901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:42937901C>A	ENST00000426333.2	-	17	1915	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	EFTUD2_ENST00000402521.3_Nonsense_Mutation_p.E505*|EFTUD2_ENST00000591382.1_Nonsense_Mutation_p.E540*|EFTUD2_ENST00000592576.1_Nonsense_Mutation_p.E530*	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	540					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.E540*(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CGGTTCACCTCGATGTGGTAC	0.433																																					p.E540X	Ovarian(10;65 485 10258 29980 30707)	.											EFTUD2,NS,carcinoma,0,1	EFTUD2	0	1	Substitution - Nonsense(1)	lung(1)	c.G1618T						.						128	105	113					17																	42937901		2203	4300	6503	SO:0001587	stop_gained	9343	exon17			TCACCTCGATGTG	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1618G>T	17.37:g.42937901C>A	ENSP00000392094:p.Glu540*	23	0		63	3	NM_004247	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Nonsense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	40	8.300126	0.98750	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-2.0E-4	18.8158	0.92076	0.0:1.0:0.0:0.0	.	.	.	.	X	540;530;505	.	ENSP00000262414:E530X	E	-	1	0	EFTUD2	40293427	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.583000	0.82559	2.776000	0.95493	0.650000	0.86243	GAG	.		0.433	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42937901	C	A	42937901	4	1	22	1	0	0	0	0	0	1	0	0	4975	893	31	2	1348	2	EFTUD2	17	42937901	Nonsense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	5371963	42937901	38257309	97	2990											
CDC27	996	hgsc.bcm.edu	37	17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000527547.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					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.L173S(1)		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						AAAGTTCTGTAAAGATGTGAA	0.383																																					p.L173S		.											CDC27,NS,malignant_melanoma,0,1	CDC27	0	1	Substitution - Missense(1)	NS(1)	c.T518C						.						77	77	77					17																	45234708		2203	4300	6503	SO:0001583	missense	996	exon6			TTCTGTAAAGATG	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.518T>C	17.37:g.45234708A>G	ENSP00000066544:p.Leu173Ser	43	0		76	4	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822437	0.50739	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69175	-0.37;-0.34;-0.17;-0.38;0.74	5.39	5.39	0.77823	.	0.250879	0.32328	N	0.006250	T	0.52980	0.1768	L	0.29908	0.895	0.50313	D	0.99986	P;B;B;B	0.38250	0.624;0.119;0.057;0.072	B;B;B;B	0.34590	0.186;0.143;0.083;0.062	T	0.54241	-0.8323	10	0.33141	T	0.24	-12.8267	13.3763	0.60741	1.0:0.0:0.0:0.0	.	112;173;173;173	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	173;173;112;173;173	ENSP00000066544:L173S;ENSP00000434614:L173S;ENSP00000392802:L112S;ENSP00000437339:L173S;ENSP00000432105:L173S	ENSP00000066544:L173S	L	-	2	0	CDC27	42589707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.315000	0.89983	2.053000	0.61076	0.528000	0.53228	TTA	.		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			G	45234708	A	G	45234708	3	3	22	1	0	0	0	0	1	0	0	0	3073	372	13	4	2030	4	CDC27	17	45234708	Missense_Mutation	SNP	A	TCGA-W5-AA34-01A-11D-A417-09	2296807	45234708	35960502	98	2991											
TTLL6	284076	hgsc.bcm.edu	37	17	46868791	46868791	+	Silent	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:46868791G>T	ENST00000393382.3	-	9	1314	c.1173C>A	c.(1171-1173)atC>atA	p.I391I	TTLL6_ENST00000433608.2_Silent_p.I84I	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						CAAAGCCCAGGATCTCAAAGC	0.542											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I391I		.											TTLL6_ENST00000393382,right_upper_lobe,carcinoma,0,2	TTLL6_ENST00000393382	0	0			c.C1173A						.						189	154	166					17																	46868791		2203	4300	6503	SO:0001819	synonymous_variant	284076	exon9			GCCCAGGATCTCA	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.1173C>A	17.37:g.46868791G>T		27	1	942	39	3	NM_001130918		Silent	SNP	ENST00000393382.3	37	CCDS45724.1																																																																																			.		0.542	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		T	46868791	G	T	46868791	2	4	22	1	0	0	0	0	0	0	0	1	16780	1164	41	3		3	TTLL6	17	46868791	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	1634083	46868791	34326419	99	2992											
OR4D2	124538	hgsc.bcm.edu	37	17	56247705	56247705	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:56247705G>T	ENST00000545221.1	+	1	689	c.689G>T	c.(688-690)gGg>gTg	p.G230V		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	230						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						TCACATCCAGGGGAGGCAAGA	0.527																																					p.G230V		.											OR4D2,colon,carcinoma,0,1	OR4D2	0	0			c.G689T						.						167	115	133					17																	56247705		2203	4300	6503	SO:0001583	missense	124538	exon1			ATCCAGGGGAGGC		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.689G>T	17.37:g.56247705G>T	ENSP00000441354:p.Gly230Val	31	0		44	2	NM_001004707	Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669446	0.29693	.	.	ENSG00000255713	ENST00000545221	T	0.00069	8.77	5.71	-2.85	0.05734	GPCR, rhodopsin-like superfamily (1);	0.509049	0.18052	N	0.153221	T	0.00178	0.0005	N	0.25825	0.765	0.09310	N	0.999991	D	0.59767	0.986	D	0.67103	0.949	T	0.52668	-0.8545	10	0.40728	T	0.16	-6.7572	6.283	0.21017	0.5366:0.1387:0.3247:0.0	.	230	P58180	OR4D2_HUMAN	V	230	ENSP00000441354:G230V	ENSP00000441354:G230V	G	+	2	0	OR4D2	53602704	0.000000	0.05858	0.001000	0.08648	0.441000	0.31987	-0.007000	0.12810	-0.386000	0.07821	-0.174000	0.13273	GGG	.		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			T	56247705	G	T	56247705	3	4	22	1	0	0	0	0	1	0	0	0	11095	1232	43	3	691	3	OR4D2	17	56247705	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	9378914	56247705	24947505	100	2993											
DCXR	51181	hgsc.bcm.edu	37	17	79994159	79994159	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr17:79994159G>T	ENST00000306869.2	-	7	588	c.539C>A	c.(538-540)aCa>aAa	p.T180K	RP13-650J16.1_ENST00000584705.1_RNA|DCXR_ENST00000584318.1_5'Flank|RP13-650J16.1_ENST00000582558.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	180					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)			CATCACCACTGTGGGGTTTAC	0.597																																					p.T180K		.											DCXR,NS,carcinoma,0,1	DCXR	0	0			c.C539A						.						78	72	74					17																	79994159		2203	4300	6503	SO:0001583	missense	51181	exon7			ACCACTGTGGGGT	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.539C>A	17.37:g.79994159G>T	ENSP00000303356:p.Thr180Lys	11	0		27	2	NM_016286	Q9BTZ3|Q9UHY9	Missense_Mutation	SNP	ENST00000306869.2	37	CCDS11799.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165039	0.21538	.	.	ENSG00000169738	ENST00000306869	T	0.44482	0.92	5.02	4.05	0.47172	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.74970	-0.3482	9	.	.	.	.	13.6938	0.62564	0.0754:0.0:0.9246:0.0	.	180	Q7Z4W1	DCXR_HUMAN	K	180	ENSP00000303356:T180K	.	T	-	2	0	DCXR	77587448	1.000000	0.71417	0.873000	0.34254	0.005000	0.04900	9.000000	0.93564	1.334000	0.45468	-0.163000	0.13421	ACA	.		0.597	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			T	79994159	G	T	79994159	3	4	22	1	0	0	0	0	1	0	0	0	4328	1377	48	3	203	3	DCXR	17	79994159	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	23746454	79994159	1201051	101	2994											
POTEC	388468	broad.mit.edu	37	18	14542812	14542812	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr18:14542812T>C	ENST00000358970.5	-	1	333	c.334A>G	c.(334-336)Agc>Ggc	p.S112G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTCTTGCCGCTCCCCCTGCAG	0.592																																					p.S112G													POTEC,NS,carcinoma,+2,1	POTEC	129	0			c.A334G						.						30	41	37					18																	14542812		692	1590	2282	SO:0001583	missense	388468	exon1			TGCCGCTCCCCCT	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.334A>G	18.37:g.14542812T>C	ENSP00000351856:p.Ser112Gly	151	1		275	5	NM_001137671		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	T	6.775	0.512008	0.12944	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31769	1.48	0.458	0.458	0.16670	.	.	.	.	.	T	0.22360	0.0539	L	0.42245	1.32	0.09310	N	1	B	0.28378	0.209	B	0.24394	0.053	T	0.18777	-1.0326	8	0.45353	T	0.12	.	.	.	.	.	112	B2RU33	POTEC_HUMAN	G	112	ENSP00000351856:S112G	ENSP00000351856:S112G	S	-	1	0	POTEC	14532812	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	0.508000	0.22692	0.388000	0.25054	0.166000	0.16787	AGC	.		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		C	14542812	T	C	14542812	3	2	22	1	0	0	0	0	1	0	0	0	12301	1551	54	4	1338	4	POTEC	18	14542812	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09		14542812	63534436	102	2995											
ZNF521	25925	broad.mit.edu	37	18	22805339	22805339	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr18:22805339G>A	ENST00000361524.3	-	4	2691	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.S628F|ZNF521_ENST00000538137.2_Missense_Mutation_p.S848F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	848					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)					CACTTGCTCGGAAGCTCCATT	0.483			T	PAX5	ALL																																p.S848F				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	0			c.C2543T						.						184	177	179					18																	22805339		2203	4300	6503	SO:0001583	missense	25925	exon4			TGCTCGGAAGCTC	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.2543C>T	18.37:g.22805339G>A	ENSP00000354794:p.Ser848Phe	19	0		51	4	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	3.598	-0.082082	0.07141	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.29917	2.97;1.55;2.99	5.93	5.93	0.95920	.	0.111713	0.64402	D	0.000007	T	0.18676	0.0448	N	0.08118	0	0.38061	D	0.936074	B	0.33073	0.396	B	0.32022	0.139	T	0.13710	-1.0499	10	0.41790	T	0.15	-18.2253	15.7911	0.78364	0.0:0.1353:0.8647:0.0	.	848	Q96K83	ZN521_HUMAN	F	848;882;848	ENSP00000354794:S848F;ENSP00000440768:S882F;ENSP00000382352:S848F	ENSP00000354794:S848F	S	-	2	0	ZNF521	21059337	0.966000	0.33281	0.341000	0.25589	0.156000	0.22039	3.907000	0.56348	2.826000	0.97356	0.655000	0.94253	TCC	.		0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		A	22805339	G	A	22805339	3	1	22	1	0	0	0	0	1	0	0	0	18013	1174	41	3	1412	3	ZNF521	18	22805339	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	8262527	22805339	55271909	103	2996											
NOL4	8715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	31803205	31803205	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr18:31803205G>C	ENST00000261592.5	-	1	310	c.13C>G	c.(13-15)Cgc>Ggc	p.R5G	NOL4_ENST00000535475.1_5'Flank|NOL4_ENST00000589544.1_Missense_Mutation_p.R5G|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000590846.1_5'Flank|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000538587.1_5'Flank	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	5						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						TACATGTCGCGCTCGCTCTCC	0.612																																					p.R5G		.											NOL4,NS,carcinoma,0,1	NOL4	0	0			c.C13G						.						81	85	83					18																	31803205		2057	4198	6255	SO:0001583	missense	8715	exon1			TGTCGCGCTCGCT	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.13C>G	18.37:g.31803205G>C	ENSP00000261592:p.Arg5Gly	20	0		24	7	NM_003787	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481633	0.63849	.	.	ENSG00000101746	ENST00000261592	D	0.83992	-1.79	5.7	5.7	0.88788	.	.	.	.	.	D	0.87103	0.6094	L	0.34521	1.04	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.70487	0.969;0.969	D	0.87633	0.2517	9	0.59425	D	0.04	-5.92	18.4166	0.90572	0.0:0.0:1.0:0.0	.	5;5	O94818;O94818-2	NOL4_HUMAN;.	G	5	ENSP00000261592:R5G	ENSP00000261592:R5G	R	-	1	0	NOL4	30057203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.889000	0.75627	2.690000	0.91761	0.655000	0.94253	CGC	.		0.612	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		C	31803205	G	C	31803205	3	2	22	1	0	0	0	0	1	0	0	0	10563	1087	38	5	1947	5	NOL4	18	31803205	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	8997866	31803205	46274043	104	2997											
THEG	51298	hgsc.bcm.edu	37	19	367205	367205	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:367205G>T	ENST00000342640.4	-	7	815	c.773C>A	c.(772-774)gCa>gAa	p.A258E	THEG_ENST00000346878.2_Missense_Mutation_p.A234E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	258					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)		CATTTGGGCTGCCCTGGATAC	0.592																																					p.A258E		.											THEG,NS,carcinoma,0,1	THEG	0	0			c.C773A						.						65	68	67					19																	367205		2203	4300	6503	SO:0001583	missense	51298	exon7			TGGGCTGCCCTGG	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.773C>A	19.37:g.367205G>T	ENSP00000340088:p.Ala258Glu	31	0		40	2	NM_016585	A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.71|15.71	2.914204|2.914204	0.52546|0.52546	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000342640;ENST00000346878|ENST00000530711	T;T|.	0.32988|.	1.43;1.43|.	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	1.282010|.	0.05316|.	N|.	0.525702|.	T|T	0.67031|0.67031	0.2850|0.2850	M|M	0.70275|0.70275	2.135|2.135	0.40234|0.40234	D|D	0.977882|0.977882	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.71899|0.71899	-0.4453|-0.4453	10|6	0.87932|0.87932	D|D	0|0	-18.7739|-18.7739	10.4202|10.4202	0.44346|0.44346	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	234;258|.	Q9P2T0-2;Q9P2T0|.	.;THEG_HUMAN|.	E|K	258;234|36	ENSP00000340088:A258E;ENSP00000264820:A234E|.	ENSP00000340088:A258E|ENSP00000431699:Q36K	A|Q	-|-	2|1	0|0	THEG|THEG	318205|318205	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.527000|0.527000	0.34593|0.34593	3.214000|3.214000	0.51161|0.51161	2.149000|2.149000	0.67028|0.67028	0.555000|0.555000	0.69702|0.69702	GCA|CAG	.		0.592	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			T	367205	G	T	367205	3	4	22	1	0	0	0	0	1	0	0	0	15904	1319	46	3	374	3	THEG	19	367205	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		367205	58761778	105	2998											
ATCAY	85300	hgsc.bcm.edu	37	19	3910859	3910859	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:3910859G>T	ENST00000450849.2	+	8	1305	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	ATCAY_ENST00000600960.1_Missense_Mutation_p.V280L|ATCAY_ENST00000398448.3_Missense_Mutation_p.V286L|ATCAY_ENST00000301260.6_Missense_Mutation_p.V280L	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	280	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CATTCGGACTGTGCTGGCCAT	0.582																																					p.V280L		.											.	.	.	0			c.G838T						.						115	123	120					19																	3910859		2146	4252	6398	SO:0001583	missense	85300	exon8			CGGACTGTGCTGG		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.838G>T	19.37:g.3910859G>T	ENSP00000390941:p.Val280Leu	13	0		43	4	NM_033064	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241720	0.22711	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.61274	0.12;0.12;0.12	4.35	4.35	0.52113	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.255981	0.37955	N	0.001879	T	0.31231	0.0790	N	0.02973	-0.45	0.51233	D	0.999911	B;B;B	0.21225	0.015;0.053;0.032	B;B;B	0.26614	0.071;0.043;0.071	T	0.30563	-0.9974	10	0.02654	T	1	-1.7376	15.9307	0.79656	0.0:0.0:1.0:0.0	.	286;280;280	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	L	280;280;280;286;258	ENSP00000390941:V280L;ENSP00000301260:V280L;ENSP00000381466:V286L	ENSP00000301260:V280L	V	+	1	0	ATCAY	3861859	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.363000	0.66104	1.970000	0.57323	0.456000	0.33151	GTG	.		0.582	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			T	3910859	G	T	3910859	3	4	22	1	0	0	0	0	1	0	0	0	1078	1377	48	3	864	3	ATCAY	19	3910859	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	3543654	3910859	55218124	106	2999											
SMARCA4	6597	hgsc.bcm.edu	37	19	11097625	11097625	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:11097625C>T	ENST00000429416.3	+	6	1086	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	SMARCA4_ENST00000450717.3_Missense_Mutation_p.P269S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P269S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P269S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P269S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P269S|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P269S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P269S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P269S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	269	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.P270fs*16(1)|p.M272fs*31(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)				CTCGGGCGTGCCCCCCGGGAT	0.632			"F, N, Mis"		NSCLC																																p.P269S		.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.,1	.	502	3	Deletion - Frameshift(2)|Unknown(1)	lung(3)	c.C805T						.						44	47	46					19																	11097625		2203	4299	6502	SO:0001583	missense	6597	exon5			GGCGTGCCCCCCG	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.805C>T	19.37:g.11097625C>T	ENSP00000395654:p.Pro269Ser	14	0		33	3	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.901060	0.72754	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	L	0.40543	1.245	0.54753	D	0.999986	P;P;P;D;P;P;P	0.63880	0.516;0.516;0.516;0.993;0.516;0.759;0.516	B;B;B;D;B;B;B	0.70227	0.245;0.245;0.245;0.968;0.245;0.245;0.245	D	0.88742	0.3244	10	0.35671	T	0.21	-29.135	15.5536	0.76173	0.0:1.0:0.0:0.0	.	269;269;269;269;269;269;269	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	S	269	ENSP00000395654:P269S;ENSP00000350720:P269S;ENSP00000343896:P269S;ENSP00000445036:P269S;ENSP00000392837:P269S;ENSP00000397783:P269S;ENSP00000414727:P269S	ENSP00000343896:P269S	P	+	1	0	SMARCA4	10958625	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.750000	0.55157	2.195000	0.70347	0.462000	0.41574	CCC	.		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11097625	C	T	11097625	3	4	22	1	0	0	0	0	1	0	0	0	14815	739	26	3	819	3	SMARCA4	19	11097625	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	7186766	11097625	48031358	107	3000											
UNC13A	23025	hgsc.bcm.edu	37	19	17756910	17756910	+	Silent	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:17756910G>T	ENST00000519716.2	-	18	2054	c.2055C>A	c.(2053-2055)gcC>gcA	p.A685A	UNC13A_ENST00000252773.7_Silent_p.A685A|UNC13A_ENST00000551649.1_Silent_p.A685A|UNC13A_ENST00000550896.1_Silent_p.A683A|UNC13A_ENST00000428389.2_Silent_p.A773A|UNC13A_ENST00000552293.1_Silent_p.A685A	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	685	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						GCAAGCCCTGGGCGCAGACCA	0.557																																					p.A685A		.											.	.	.	0			c.C2055A						.						68	66	67					19																	17756910		2075	4243	6318	SO:0001819	synonymous_variant	23025	exon17			GCCCTGGGCGCAG	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.2055C>A	19.37:g.17756910G>T		40	0		40	4	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																			.		0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17756910	G	T	17756910	2	4	22	1	0	0	0	0	0	0	0	1	17033	1219	43	3		3	UNC13A	19	17756910	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	6659285	17756910	41372073	108	3001											
ZNF14	7561	hgsc.bcm.edu;bcgsc.ca	37	19	19824917	19824917	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:19824917G>T	ENST00000344099.3	-	3	312	c.174C>A	c.(172-174)aaC>aaA	p.N58K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	58	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)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTTTCCCCTGGTTTCTGTGGT	0.368																																					p.N58K		.											.	.	.	0			c.C174A						.						116	108	111					19																	19824917		2203	4300	6503	SO:0001583	missense	7561	exon3			CCCCTGGTTTCTG	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.174C>A	19.37:g.19824917G>T	ENSP00000340514:p.Asn58Lys	51	0		80	4	NM_021030	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	6.710	0.499649	0.12762	.	.	ENSG00000105708	ENST00000344099	T	0.05513	3.43	1.47	-0.889	0.10580	Krueppel-associated box (3);	.	.	.	.	T	0.02156	0.0067	N	0.02721	-0.515	0.09310	N	1	B	0.28291	0.206	B	0.30105	0.111	T	0.47812	-0.9088	9	0.11794	T	0.64	.	3.9765	0.09476	0.4552:0.0:0.5448:0.0	.	58	P17017	ZNF14_HUMAN	K	58	ENSP00000340514:N58K	ENSP00000340514:N58K	N	-	3	2	ZNF14	19685917	0.137000	0.22531	0.000000	0.03702	0.108000	0.19459	1.261000	0.32980	-0.202000	0.10268	0.467000	0.42956	AAC	.		0.368	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		T	19824917	G	T	19824917	3	4	22	1	0	0	0	0	1	0	0	0	17776	1252	44	3	1762	3	ZNF14	19	19824917	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	2068007	19824917	39304066	109	3002											
ZNF676	163223	bcgsc.ca	37	19	22363736	22363737	+	Missense_Mutation	DNP	TC	TC	AG	rs559970266|rs572031376	byFrequency	TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:22363736_22363737TC>AG	ENST00000397121.2	-	3	1099_1100	c.782_783GA>CT	c.(781-783)gGA>gCT	p.G261A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				CGCTACTAAATCCTTTGCCACA	0.391																																					p.G261A													.	ZNF676	146	0			c.G782C						.																																			SO:0001583	missense	163223	exon3			CTAAATCCTTTGC	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.782_783delinsAG	19.37:g.22363736_22363737delinsAG	ENSP00000380310:p.Gly261Ala	60	2		76	5	NM_001001411	A8MVX5	Missense_Mutation	DNP	ENST00000397121.2	37	CCDS42539.1																																																																																			.		0.391	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		AG	22363737	TC	AG	22363736	3	1	22	1	0	0	0	0	1	0	0	0	18131	1422	50	5	987	5	ZNF676	19	22363736	Missense_Mutation	DNP	TC	TCGA-W5-AA34-01A-11D-A417-09	2538819	22363736	36765247	110	3003											
C19orf2	8725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	30476190	30476190	+	Silent	SNP	A	A	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:30476190A>G	ENST00000542441.2	+	3	510	c.213A>G	c.(211-213)aaA>aaG	p.K71K	URI1_ENST00000312051.6_Silent_p.K31K|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Silent_p.K53K			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	71					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)										TGCCTGATAAATTGTCTTATA	0.338																																					p.K71K		.											.	.	.	0			c.A213G						.						187	191	190					19																	30476190		2203	4300	6503	SO:0001819	synonymous_variant	8725	exon3			TGATAAATTGTCT	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.213A>G	19.37:g.30476190A>G		74	0		126	61	NM_003796	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	CCDS12420.1																																																																																			.		0.338	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		G	30476190	A	G	30476190	2	3	22	1	0	0	0	0	0	0	0	1	1918	98	4	4		4	C19orf2	19	30476190	Silent	SNP	A	TCGA-W5-AA34-01A-11D-A417-09	8112454	30476190	28652793	111	3004											
ZNF345	25850	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	37367799	37367799	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:37367799C>G	ENST00000529555.1	+	2	855	c.67C>G	c.(67-69)Cag>Gag	p.Q23E	ZNF345_ENST00000589046.1_Missense_Mutation_p.Q23E|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Q23E|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	23					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)			ATGTAAAAACCAGTTTGAGAG	0.373																																					p.Q23E		.											.	.	.	0			c.C67G						.						90	88	89					19																	37367799		2203	4300	6503	SO:0001583	missense	25850	exon4			AAAAACCAGTTTG	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.67C>G	19.37:g.37367799C>G	ENSP00000431202:p.Gln23Glu	44	0		93	5	NM_001242476		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180366	0.21787	.	.	ENSG00000251247	ENST00000532141;ENST00000420450;ENST00000529555;ENST00000331800	T;T;T;T	0.07114	5.76;3.34;3.34;3.22	4.32	3.29	0.37713	.	.	.	.	.	T	0.08537	0.0212	L	0.58101	1.795	0.21822	N	0.999527	B	0.22851	0.076	B	0.15870	0.014	T	0.35201	-0.9798	9	0.14252	T	0.57	.	7.9816	0.30188	0.0:0.8906:0.0:0.1094	.	23	Q14585	ZN345_HUMAN	E	23	ENSP00000431289:Q23E;ENSP00000431216:Q23E;ENSP00000431202:Q23E;ENSP00000331120:Q23E	ENSP00000331120:Q23E	Q	+	1	0	ZNF345	42059639	0.002000	0.14202	1.000000	0.80357	0.990000	0.78478	0.509000	0.22707	1.381000	0.46364	0.655000	0.94253	CAG	.		0.373	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			G	37367799	C	G	37367799	3	3	22	1	0	0	0	0	1	0	0	0	17907	595	21	5	69	5	ZNF345	19	37367799	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	6891609	37367799	21761184	112	3005											
ALDH16A1	126133	broad.mit.edu	37	19	49973687	49973687	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:49973687C>T	ENST00000293350.4	+	17	2535	c.2372C>T	c.(2371-2373)gCg>gTg	p.A791V	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.A628V|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.A626V|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.A740V	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	791						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)		CTGCGAGTGGCGCGGACCAAG	0.682																																					p.A791V													.	ALDH16A1	54	0			c.C2372T						.						18	22	21					19																	49973687		2199	4294	6493	SO:0001583	missense	126133	exon17			GAGTGGCGCGGAC	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.2372C>T	19.37:g.49973687C>T	ENSP00000293350:p.Ala791Val	33	0		36	3	NM_153329	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661802	0.29515	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.71579	-0.58;-0.32;-0.51;-0.51	5.02	5.02	0.67125	.	0.625587	0.15777	N	0.245154	T	0.63379	0.2506	N	0.02225	-0.63	0.33177	D	0.54911	P;D;P	0.89917	0.785;1.0;0.791	B;D;B	0.75484	0.127;0.986;0.167	T	0.64706	-0.6344	10	0.15499	T	0.54	-5.9073	14.2431	0.65971	0.0:1.0:0.0:0.0	.	628;740;791	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	V	791;740;628;626	ENSP00000293350:A791V;ENSP00000410142:A740V;ENSP00000445088:A628V;ENSP00000398675:A626V	ENSP00000293350:A791V	A	+	2	0	ALDH16A1	54665499	0.984000	0.35163	0.973000	0.42090	0.621000	0.37620	4.096000	0.57734	2.498000	0.84270	0.603000	0.83216	GCG	.		0.682	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		T	49973687	C	T	49973687	3	4	22	1	0	0	0	0	1	0	0	0	488	768	27	1	2438	1	ALDH16A1	19	49973687	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	12605888	49973687	9155296	113	3006											
LILRB4	11006	hgsc.bcm.edu	37	19	55179365	55179365	+	Silent	SNP	G	G	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr19:55179365G>A	ENST00000391736.1	+	14	1557	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	LILRB4_ENST00000391733.3_Silent_p.Q415Q|LILRB4_ENST00000430952.2_Silent_p.Q413Q|LILRB4_ENST00000391734.3_Silent_p.Q361Q|LILRB4_ENST00000270452.2_Silent_p.Q414Q	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)	p.Q414Q(1)		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)		CCTACGCCCAGCTGCACAGCT	0.647																																					p.Q414Q		.											LILRB4,NS,carcinoma,0,1	LILRB4	0	1	Substitution - coding silent(1)	lung(1)	c.G1242A						.						85	89	88					19																	55179365		2203	4300	6503	SO:0001819	synonymous_variant	11006	exon12			CGCCCAGCTGCAC	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.1242G>A	19.37:g.55179365G>A		61	0		93	3	NM_006847	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	CCDS12902.1																																																																																			.		0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			A	55179365	G	A	55179365	2	1	22	1	0	0	0	0	0	0	0	1	8822	962	34	3		3	LILRB4	19	55179365	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	5205678	55179365	3949618	114	3007											
PREX1	57580	hgsc.bcm.edu	37	20	47258999	47258999	+	Silent	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr20:47258999G>T	ENST00000371941.3	-	28	3652	c.3630C>A	c.(3628-3630)atC>atA	p.I1210I	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Silent_p.I1210I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1210					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)			TGTCAGATGGGATCCGCATGT	0.567																																					p.I1210I		.											PREX1_ENST00000396220,NS,carcinoma,0,2	PREX1_ENST00000396220	0	0			c.C3630A						.						76	70	72					20																	47258999		2203	4300	6503	SO:0001819	synonymous_variant	57580	exon28			AGATGGGATCCGC	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.3630C>A	20.37:g.47258999G>T		16	0		49	2	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																			.		0.567	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47258999	G	T	47258999	2	4	22	1	0	0	0	0	0	0	0	1	12518	1164	41	3		3	PREX1	20	47258999	Silent	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		47258999	15766521	115	3008											
SLC37A1	54020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	43959624	43959624	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr21:43959624G>T	ENST00000352133.2	+	6	1335	c.353G>T	c.(352-354)gGc>gTc	p.G118V	SLC37A1_ENST00000398341.3_Missense_Mutation_p.G118V			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	118					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						CACCTCAGTGGCATCATTGGG	0.512																																					p.G118V		.											.	.	.	0			c.G353T						.						104	96	99					21																	43959624		2203	4300	6503	SO:0001583	missense	54020	exon7			TCAGTGGCATCAT	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.353G>T	21.37:g.43959624G>T	ENSP00000344648:p.Gly118Val	48	0		38	4	NM_018964	D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121479	0.56613	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.73258	-0.73;-0.73	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	H	0.94542	3.55	0.80722	D	1	D	0.63046	0.992	D	0.72338	0.977	D	0.92156	0.5732	10	0.87932	D	0	-7.2059	17.8856	0.88852	0.0:0.0:1.0:0.0	.	118	P57057	GLPT_HUMAN	V	118	ENSP00000381383:G118V;ENSP00000344648:G118V	ENSP00000344648:G118V	G	+	2	0	SLC37A1	42832693	1.000000	0.71417	0.987000	0.45799	0.029000	0.11900	9.507000	0.97996	2.223000	0.72356	0.555000	0.69702	GGC	.		0.512	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			T	43959624	G	T	43959624	3	4	22	1	0	0	0	0	1	0	0	0	14642	1203	42	3	371	3	SLC37A1	21	43959624	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09		43959624	4170271	116	3009											
PTTG1IP	754	hgsc.bcm.edu	37	21	46271541	46271541	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr21:46271541G>T	ENST00000330938.3	-	6	718	c.498C>A	c.(496-498)ggC>ggA	p.G166G	PTTG1IP_ENST00000397887.3_Splice_Site_p.G93G|PTTG1IP_ENST00000397886.3_Splice_Site_p.G145G|PTTG1IP_ENST00000445724.2_Splice_Site_p.A57D	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	166					multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		CTTTAAACAGGCCTGAAACAA	0.408																																					p.G166G		.											PTTG1IP_ENST00000445724,NS,carcinoma,0,2	PTTG1IP_ENST00000445724	0	0			c.C498A						.						120	120	120					21																	46271541		2203	4300	6503	SO:0001630	splice_region_variant	754	exon6			AAACAGGCCTGAA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.497-1C>A	21.37:g.46271541G>T		59	0		31	2	NM_004339	B2RDP7|D3DSL9|Q9NS09	Silent	SNP	ENST00000330938.3	37	CCDS13715.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234006	0.22626	.	.	ENSG00000183255	ENST00000445724	T	0.41400	1.0	5.03	-1.86	0.07760	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.21416	N	0.999691	B	0.20052	0.041	B	0.20184	0.028	T	0.33599	-0.9862	8	0.87932	D	0	.	1.9347	0.03334	0.5221:0.1255:0.2301:0.1223	.	57	B4DPZ0	.	D	57	ENSP00000395374:A57D	ENSP00000395374:A57D	A	-	2	0	PTTG1IP	45095969	1.000000	0.71417	0.941000	0.38009	0.811000	0.45836	0.708000	0.25719	0.019000	0.15079	-0.768000	0.03414	GCC	.		0.408	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1		Silent	T	46271541	G	T	46271541	5	4	22	1	0	0	0	0	0	0	1	0	12865	1217	42	3	48	3	PTTG1IP	21	46271541	Splice_Site	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	2311917	46271541	1858354	117	3010											
SLC5A1	6523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	32482270	32482270	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr22:32482270C>G	ENST00000266088.4	+	10	1335	c.1085C>G	c.(1084-1086)aCc>aGc	p.T362S	SLC5A1_ENST00000543737.1_Missense_Mutation_p.T235S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	362					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GTTGGCTGTACCAACATCGCC	0.488																																					p.T362S		.											.	.	.	0			c.C1085G						.						199	167	178					22																	32482270		2203	4300	6503	SO:0001583	missense	6523	exon10			GCTGTACCAACAT		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1085C>G	22.37:g.32482270C>G	ENSP00000266088:p.Thr362Ser	67	0		98	34	NM_000343	B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356378	0.11239	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.86366	-2.11;-2.11	5.33	3.08	0.35506	.	0.242480	0.47852	N	0.000213	T	0.72399	0.3455	N	0.11560	0.145	0.47441	D	0.999426	B	0.12013	0.005	B	0.17979	0.02	T	0.66586	-0.5886	10	0.02654	T	1	.	15.4734	0.75458	0.0:0.74:0.26:0.0	.	362	P13866	SC5A1_HUMAN	S	362;235	ENSP00000266088:T362S;ENSP00000444898:T235S	ENSP00000266088:T362S	T	+	2	0	SLC5A1	30812270	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	1.540000	0.36115	1.359000	0.45940	0.585000	0.79938	ACC	.		0.488	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		G	32482270	C	G	32482270	3	3	22	1	0	0	0	0	1	0	0	0	14706	507	18	5	1123	5	SLC5A1	22	32482270	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09		32482270	18822296	118	3011											
TIMP3	7078	hgsc.bcm.edu;bcgsc.ca	37	22	33254019	33254019	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chr22:33254019G>T	ENST00000266085.6	+	4	633	c.332G>T	c.(331-333)gGc>gTc	p.G111V	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	111	Mediates interaction with EFEMP1.|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						GTCTATGATGGCAAGATGTAC	0.527																																					p.G111V		.											.	.	.	0			c.G332T						.						114	101	105					22																	33254019		2203	4300	6503	SO:0001583	missense	7078	exon4			ATGATGGCAAGAT		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.332G>T	22.37:g.33254019G>T	ENSP00000266085:p.Gly111Val	63	0		88	4	NM_000362	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	ENST00000266085.6	37	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381544	0.42207	.	.	ENSG00000100234	ENST00000266085;ENST00000538671;ENST00000382049	D	0.97209	-4.29	5.34	3.21	0.36854	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.219358	0.46758	N	0.000275	D	0.96540	0.8871	M	0.89095	3.005	0.80722	D	1	B	0.15141	0.012	B	0.19391	0.025	D	0.94157	0.7411	10	0.87932	D	0	-26.3324	10.0749	0.42355	0.0715:0.0:0.7906:0.1378	.	111	P35625	TIMP3_HUMAN	V	111;45;111	ENSP00000266085:G111V	ENSP00000266085:G111V	G	+	2	0	TIMP3	31584019	1.000000	0.71417	0.337000	0.25536	0.145000	0.21501	5.972000	0.70448	0.606000	0.29965	0.561000	0.74099	GGC	.		0.527	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		T	33254019	G	T	33254019	3	4	22	1	0	0	0	0	1	0	0	0	15966	1203	42	3	346	3	TIMP3	22	33254019	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	771749	33254019	18050547	119	3012											
GPR64	10149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	19021009	19021009	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chrX:19021009T>C	ENST00000379869.3	-	24	2348	c.2185A>G	c.(2185-2187)Act>Gct	p.T729A	GPR64_ENST00000356606.4_Missense_Mutation_p.T715A|GPR64_ENST00000354791.3_Missense_Mutation_p.T713A|GPR64_ENST00000340581.3_Missense_Mutation_p.T610A|GPR64_ENST00000379876.1_Missense_Mutation_p.T705A|GPR64_ENST00000379873.2_Missense_Mutation_p.T729A|GPR64_ENST00000357991.3_Missense_Mutation_p.T726A|GPR64_ENST00000360279.4_Missense_Mutation_p.T707A|GPR64_ENST00000357544.3_Missense_Mutation_p.T699A|GPR64_ENST00000379878.3_Missense_Mutation_p.T713A	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	729					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CGGATGTAAGTATTAAATACT	0.413																																					p.T729A		.											.	.	.	0			c.A2185G						.						103	100	101					X																	19021009		2203	4300	6503	SO:0001583	missense	10149	exon24			TGTAAGTATTAAA	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2185A>G	X.37:g.19021009T>C	ENSP00000369198:p.Thr729Ala	78	0		122	37	NM_001184834	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284301	0.80803	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.36	5.36	0.76844	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000048	T	0.50786	0.1636	L	0.39326	1.205	0.44359	D	0.997257	P;P;D;D;D;D;D;D;D;D;D	0.76494	0.869;0.508;0.999;0.968;0.968;0.999;0.999;0.994;0.994;0.987;0.999	P;B;D;D;D;D;D;D;D;D;D	0.76071	0.853;0.316;0.978;0.922;0.922;0.978;0.978;0.941;0.941;0.953;0.987	T	0.50381	-0.8835	10	0.51188	T	0.08	.	14.4356	0.67279	0.0:0.0:0.0:1.0	.	610;691;699;705;713;729;707;715;726;729;713	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	A	729;713;713;705;699;729;707;726;715;610	ENSP00000369202:T729A;ENSP00000369207:T713A;ENSP00000346845:T713A;ENSP00000369205:T705A;ENSP00000350152:T699A;ENSP00000369198:T729A;ENSP00000353421:T707A;ENSP00000350680:T726A;ENSP00000349015:T715A;ENSP00000344972:T610A	ENSP00000344972:T610A	T	-	1	0	GPR64	18930930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.755000	0.62198	1.788000	0.52465	0.441000	0.28932	ACT	.		0.413	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			C	19021009	T	C	19021009	3	2	22	1	0	0	0	0	1	0	0	0	6731	1638	57	4	892	4	GPR64	23	19021009	Missense_Mutation	SNP	T	TCGA-W5-AA34-01A-11D-A417-09		19021009	136249551	120	3013											
WDR13	64743	broad.mit.edu	37	X	48457849	48457849	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chrX:48457849A>G	ENST00000218056.5	+	3	896	c.391A>G	c.(391-393)Agg>Ggg	p.R131G	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Splice_Site_p.R131G	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	131						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTATGAGGACAGGTATGCACC	0.652																																					p.R131G													.	WDR13	96	0			c.A391G						.						31	25	27					X																	48457849		2203	4300	6503	SO:0001630	splice_region_variant	64743	exon3			GAGGACAGGTATG	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.392+1A>G	X.37:g.48457849A>G		60	0		114	3	NM_017883	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Splice_Site	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113315	0.56398	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.72051	-0.62;-0.62	5.05	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	L	0.54323	1.7	0.58432	D	0.999992	P;B	0.48764	0.915;0.422	B;B	0.38500	0.275;0.078	T	0.50767	-0.8789	10	0.17369	T	0.5	-12.5651	5.6624	0.17676	0.7374:0.1675:0.0951:0.0	.	9;131	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	G	131	ENSP00000365919:R131G;ENSP00000218056:R131G	ENSP00000218056:R131G	R	+	1	2	WDR13	48342793	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.147000	0.58078	0.599000	0.29845	0.381000	0.24937	AGG	.		0.652	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2		Missense_Mutation	G	48457849	A	G	48457849	5	3	22	1	0	0	0	0	0	0	1	0	17324	202	7	4	401	4	WDR13	23	48457849	Splice_Site	SNP	A	TCGA-W5-AA34-01A-11D-A417-09	29436840	48457849	106812711	121	3014											
TRPC5	7224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	111155791	111155791	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chrX:111155791C>A	ENST00000262839.2	-	3	1546	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	210					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						CTTGATAAGGCAATGAGTGAG	0.547																																					p.A210S		.											.	.	.	0			c.G628T						.						142	131	135					X																	111155791		2203	4300	6503	SO:0001583	missense	7224	exon3			ATAAGGCAATGAG	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.628G>T	X.37:g.111155791C>A	ENSP00000262839:p.Ala210Ser	12	0		30	18	NM_012471	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554132	0.86231	.	.	ENSG00000072315	ENST00000262839	T	0.74209	-0.82	5.79	5.79	0.91817	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	N	0.20530	0.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.983;0.995	T	0.71866	-0.4463	10	0.13470	T	0.59	-14.4456	19.0181	0.92902	0.0:1.0:0.0:0.0	.	211;210	Q59G51;Q9UL62	.;TRPC5_HUMAN	S	210	ENSP00000262839:A210S	ENSP00000262839:A210S	A	-	1	0	TRPC5	111042447	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.815000	0.86186	2.440000	0.82611	0.529000	0.55759	GCC	.		0.547	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		A	111155791	C	A	111155791	3	1	22	1	0	0	0	0	1	0	0	0	16630	710	25	3	2329	3	TRPC5	23	111155791	Missense_Mutation	SNP	C	TCGA-W5-AA34-01A-11D-A417-09	62697942	111155791	44114769	122	3015											
MTM1	4534	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	149818340	149818340	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA34-01A-11D-A417-09	TCGA-W5-AA34-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	302c8a32-f894-4f40-950b-07ce2146bd13	8a5426fa-9c13-470a-b1cf-31d9043405df	g.chrX:149818340G>T	ENST00000370396.2	+	10	1073	c.1019G>T	c.(1018-1020)aGt>aTt	p.S340I	MTM1_ENST00000543350.1_Missense_Mutation_p.S225I|MTM1_ENST00000542741.1_Missense_Mutation_p.S245I|MTM1_ENST00000413012.2_Missense_Mutation_p.S303I|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	340	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTGTCCAGTTTGGAGTCT	0.299																																					p.S340I		.											.	.	.	0			c.G1019T						.						90	93	92					X																	149818340		2203	4298	6501	SO:0001583	missense	4534	exon10			TGTCCAGTTTGGA	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1019G>T	X.37:g.149818340G>T	ENSP00000359423:p.Ser340Ile	71	0		190	17	NM_000252	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832293	0.50845	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.75	5.75	0.90469	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	M	0.80183	2.485	0.53688	D	0.999975	B;B	0.23591	0.088;0.088	B;B	0.20384	0.029;0.029	D	0.91150	0.4952	10	0.49607	T	0.09	.	18.9742	0.92728	0.0:0.0:1.0:0.0	.	303;340	B7Z491;Q13496	.;MTM1_HUMAN	I	340;245;225;303	ENSP00000359423:S340I;ENSP00000444015:S245I;ENSP00000439784:S225I;ENSP00000389157:S303I	ENSP00000359423:S340I	S	+	2	0	MTM1	149568998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.794000	0.62482	2.429000	0.82318	0.594000	0.82650	AGT	.		0.299	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		T	149818340	G	T	149818340	3	4	22	1	0	0	0	0	1	0	0	0	9975	1029	36	3	1053	3	MTM1	23	149818340	Missense_Mutation	SNP	G	TCGA-W5-AA34-01A-11D-A417-09	38662549	149818340	5452220	123	3016											
NOL9	79707	hgsc.bcm.edu	37	1	6609749	6609749	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:6609749C>T	ENST00000377705.5	-	3	658	c.626G>A	c.(625-627)cGt>cAt	p.R209H		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	209					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)		CATCGACCAACGCCTGTCATC	0.423																																					p.R209H		.											NOL9,NS,carcinoma,0,2	NOL9	0	0			c.G626A						.						116	109	112					1																	6609749		2203	4300	6503	SO:0001583	missense	79707	exon3			GACCAACGCCTGT	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.626G>A	1.37:g.6609749C>T	ENSP00000366934:p.Arg209His	38	0		30	2	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295477	0.05532	.	.	ENSG00000162408	ENST00000377705	T	0.18502	2.21	5.74	-5.24	0.02789	.	1.369990	0.04223	N	0.333918	T	0.05090	0.0136	N	0.14661	0.345	0.09310	N	1	P	0.48162	0.906	B	0.30572	0.117	T	0.39272	-0.9622	10	0.15499	T	0.54	-6.1423	1.5806	0.02633	0.128:0.1956:0.3267:0.3497	.	209	Q5SY16	NOL9_HUMAN	H	209	ENSP00000366934:R209H	ENSP00000366934:R209H	R	-	2	0	NOL9	6532336	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.227000	0.09126	-0.463000	0.06973	-0.192000	0.12808	CGT	.		0.423	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		T	6609749	C	T	6609749	3	4	23	1	0	0	0	0	1	0	0	0	10567	536	19	1	1522	1	NOL9	1	6609749	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		6609749	242640872	1	3017											
COL8A2	1296	hgsc.bcm.edu;bcgsc.ca	37	1	36565684	36565684	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:36565684G>T	ENST00000397799.1	-	3	384	c.160C>A	c.(160-162)Ccg>Acg	p.P54T	COL8A2_ENST00000303143.4_Missense_Mutation_p.P54T|COL8A2_ENST00000481785.1_Intron			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	54	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|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)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGAAGGGCGGTCCCACAGGT	0.682											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P54T		.											.	.	.	0			c.C160A						.						62	61	61					1																	36565684		2203	4300	6503	SO:0001583	missense	1296	exon1			AGGGCGGTCCCAC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.160C>A	1.37:g.36565684G>T	ENSP00000380901:p.Pro54Thr	54	0	863	49	4	NM_005202	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649381	0.67358	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000373172	D;D	0.91011	-2.77;-2.77	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	L	0.28740	0.885	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86637	0.1889	10	0.09843	T	0.71	.	14.8616	0.70387	0.0:0.0:1.0:0.0	.	54	P25067	CO8A2_HUMAN	T	54	ENSP00000305913:P54T;ENSP00000380901:P54T	ENSP00000305913:P54T	P	-	1	0	COL8A2	36338271	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.551000	0.90678	2.282000	0.76494	0.491000	0.48974	CCG	.		0.682	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		T	36565684	G	T	36565684	3	4	23	1	0	0	0	0	1	0	0	0	3713	1261	44	3	1959	3	COL8A2	1	36565684	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	29955935	36565684	212684937	2	3018											
PPCS	79717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	42925444	42925444	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:42925444G>C	ENST00000372561.3	+	3	790	c.783G>C	c.(781-783)gaG>gaC	p.E261D	PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000372562.1_Missense_Mutation_p.E88D|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Missense_Mutation_p.E88D	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	261					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)				ATATCCTTGAGTCACGACAGT	0.408																																					p.E261D		.											.	.	.	0			c.G783C						.						125	118	121					1																	42925444		1871	4105	5976	SO:0001583	missense	79717	exon3			CCTTGAGTCACGA	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.783G>C	1.37:g.42925444G>C	ENSP00000361642:p.Glu261Asp	90	0		92	16	NM_024664	Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651509	0.29336	.	.	ENSG00000127125	ENST00000372562;ENST00000455780;ENST00000372561	.	.	.	6.01	1.39	0.22231	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.140265	0.64402	N	0.000005	T	0.21347	0.0514	N	0.10945	0.07	0.33310	D	0.565991	B	0.09022	0.002	B	0.15870	0.014	T	0.10382	-1.0632	9	0.20046	T	0.44	-7.2022	4.0835	0.09937	0.1943:0.0:0.3015:0.5042	.	261	Q9HAB8	PPCS_HUMAN	D	88;88;261	.	ENSP00000361642:E261D	E	+	3	2	PPCS	42698031	0.890000	0.30428	0.999000	0.59377	0.993000	0.82548	-0.010000	0.12743	0.382000	0.24878	-0.157000	0.13467	GAG	.		0.408	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		C	42925444	G	C	42925444	3	2	23	1	0	0	0	0	1	0	0	0	12344	1020	36	5	793	5	PPCS	1	42925444	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	6359760	42925444	206325177	3	3019											
POMGNT1	55624	hgsc.bcm.edu	37	1	46662489	46662489	+	Missense_Mutation	SNP	G	G	T	rs144959783		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:46662489G>T	ENST00000371984.3	-	4	425	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	POMGNT1_ENST00000396420.3_Missense_Mutation_p.R90S|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R90S|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R68S|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R90S	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	90					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)					CTGCCTCTGCGCCGTGGGGGC	0.622																																					p.R90S		.											POMGNT1_ENST00000371992,caecum,carcinoma,0,2	POMGNT1_ENST00000371992	0	0			c.C268A						.						73	77	76					1																	46662489		2203	4300	6503	SO:0001583	missense	55624	exon4			CTCTGCGCCGTGG		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.268C>A	1.37:g.46662489G>T	ENSP00000361052:p.Arg90Ser	20	0		19	3	NM_017739	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072798	0.55646	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;1.51;-1.0	4.83	4.83	0.62350	.	0.230391	0.43416	D	0.000562	T	0.70211	0.3198	L	0.57536	1.79	0.46678	D	0.999153	B;P;B;B	0.37573	0.082;0.6;0.004;0.054	B;B;B;B	0.34991	0.041;0.193;0.007;0.011	T	0.69363	-0.5165	10	0.22706	T	0.39	-8.0675	17.9155	0.88948	0.0:0.0:1.0:0.0	.	68;90;90;90	F5H827;Q68CV6;Q5VST3;Q8WZA1	.;.;.;PMGT1_HUMAN	S	90;90;90;68;90	ENSP00000379698:R90S;ENSP00000361052:R90S;ENSP00000361060:R90S;ENSP00000443767:R68S;ENSP00000361054:R90S	ENSP00000361052:R90S	R	-	1	0	POMGNT1	46435076	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	5.346000	0.65992	2.203000	0.70933	0.462000	0.41574	CGC	.		0.622	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		T	46662489	G	T	46662489	3	4	23	1	0	0	0	0	1	0	0	0	12282	1087	38	2	1790	2	POMGNT1	1	46662489	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	3737045	46662489	202588132	4	3020											
AGL	178	bcgsc.ca	37	1	100366398	100366398	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:100366398C>T	ENST00000294724.4	+	26	4047	c.3569C>T	c.(3568-3570)cCt>cTt	p.P1190L	AGL_ENST00000361302.3_Missense_Mutation_p.P1174L|AGL_ENST00000370165.3_Missense_Mutation_p.P1190L|AGL_ENST00000361522.4_Missense_Mutation_p.P1173L|AGL_ENST00000370163.3_Missense_Mutation_p.P1190L|AGL_ENST00000370161.2_Missense_Mutation_p.P1174L|AGL_ENST00000361915.3_Missense_Mutation_p.P1190L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1190					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)		GATTCTGCTCCTTTGCCTGCT	0.338																																					p.P1190L													.	AGL	137	0			c.C3569T						.						151	144	146					1																	100366398		2203	4300	6503	SO:0001583	missense	178	exon26			CTGCTCCTTTGCC	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.3569C>T	1.37:g.100366398C>T	ENSP00000294724:p.Pro1190Leu	43	0		63	4	NM_000644	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810135	0.90707	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.61	5.61	0.85477	Six-hairpin glycosidase-like (1);	0.162027	0.56097	D	0.000027	T	0.65186	0.2667	L	0.56769	1.78	0.80722	D	1	P;P;P	0.38473	0.58;0.58;0.633	P;P;P	0.49421	0.476;0.476;0.61	T	0.65022	-0.6269	10	0.48119	T	0.1	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	1173;1174;1190	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	L	1190;1190;1190;1190;1174;1174;1173	ENSP00000355106:P1190L;ENSP00000359184:P1190L;ENSP00000359182:P1190L;ENSP00000294724:P1190L;ENSP00000354971:P1174L;ENSP00000359180:P1174L;ENSP00000354635:P1173L	ENSP00000294724:P1190L	P	+	2	0	AGL	100138986	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.044000	0.76578	2.629000	0.89072	0.650000	0.86243	CCT	.		0.338	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		T	100366398	C	T	100366398	3	4	23	1	0	0	0	0	1	0	0	0	384	681	24	3	3736	3	AGL	1	100366398	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	53703909	100366398	148884223	5	3021											
TRIM33	51592	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	114952824	114952824	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:114952824G>T	ENST00000358465.2	-	12	2259	c.2176C>A	c.(2176-2178)Ctt>Att	p.L726I	TRIM33_ENST00000450349.2_Missense_Mutation_p.L358I|TRIM33_ENST00000369543.2_Missense_Mutation_p.L726I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	726					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)		CCCGGAGAAAGGGCAGAGGGA	0.423			T	RET	papillary thyroid																																p.L726I		.		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	.	.	.	0			c.C2176A						.						124	124	124					1																	114952824		2203	4300	6503	SO:0001583	missense	51592	exon12			GAGAAAGGGCAGA	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.2176C>A	1.37:g.114952824G>T	ENSP00000351250:p.Leu726Ile	66	0		49	4	NM_033020	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773758	0.31411	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.75154	-0.82;-0.72;-0.91	4.82	2.46	0.29980	.	0.373016	0.27618	N	0.018577	T	0.27384	0.0672	N	0.14661	0.345	0.30302	N	0.789348	B;B;B;B	0.31680	0.335;0.335;0.253;0.164	B;B;B;B	0.25140	0.058;0.039;0.04;0.018	T	0.07770	-1.0755	10	0.22109	T	0.4	-8.3692	4.7916	0.13252	0.2109:0.0:0.6303:0.1588	.	358;358;726;726	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.;.;.;TRI33_HUMAN	I	726;726;358	ENSP00000351250:L726I;ENSP00000358556:L726I;ENSP00000412077:L358I	ENSP00000351250:L726I	L	-	1	0	TRIM33	114754347	1.000000	0.71417	0.975000	0.42487	0.962000	0.63368	4.611000	0.61162	0.319000	0.23209	0.460000	0.39030	CTT	.		0.423	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		T	114952824	G	T	114952824	3	4	23	1	0	0	0	0	1	0	0	0	16555	1000	35	3	1243	3	TRIM33	1	114952824	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	14586426	114952824	134297797	6	3022											
VANGL1	81839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	116206776	116206776	+	Silent	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:116206776C>A	ENST00000355485.2	+	4	970	c.699C>A	c.(697-699)atC>atA	p.I233I	VANGL1_ENST00000369510.4_Silent_p.I231I|VANGL1_ENST00000310260.3_Silent_p.I233I|VANGL1_ENST00000369509.1_Silent_p.I233I	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	233					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)		TCCTCTTCATCCATTACCTGG	0.577																																					p.I233I		.											.	.	.	0			c.C699A						.						106	105	105					1																	116206776		2203	4300	6503	SO:0001819	synonymous_variant	81839	exon4			CTTCATCCATTAC	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.699C>A	1.37:g.116206776C>A		29	0		31	9	NM_138959	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	37	CCDS883.1																																																																																			.		0.577	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			A	116206776	C	A	116206776	2	1	23	1	0	0	0	0	0	0	0	1	17168	845	30	3		3	VANGL1	1	116206776	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	1253952	116206776	133043845	7	3023											
ADAM30	11085	hgsc.bcm.edu;broad.mit.edu	37	1	120438863	120438863	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:120438863G>T	ENST00000369400.1	-	1	255	c.97C>A	c.(97-99)Cac>Aac	p.H33N		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	33					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)		CCTTCAGGGTGAAAAATTACA	0.512																																					p.H33N		.											ADAM30,NS,carcinoma,0,1	ADAM30	0	0			c.C97A						.						58	58	58					1																	120438863		2203	4300	6503	SO:0001583	missense	11085	exon1			CAGGGTGAAAAAT	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.97C>A	1.37:g.120438863G>T	ENSP00000358407:p.His33Asn	35	0		21	4	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	0.189	-1.055139	0.01965	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01126	5.3	4.6	2.5	0.30297	.	0.571105	0.14533	N	0.313714	T	0.00328	0.0010	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.16722	0.016	T	0.40021	-0.9585	10	0.16896	T	0.51	.	7.0697	0.25171	0.0:0.266:0.5609:0.173	.	33	Q9UKF2	ADA30_HUMAN	N	33	ENSP00000358407:H33N	ENSP00000358407:H33N	H	-	1	0	ADAM30	120240386	0.076000	0.21285	0.146000	0.22360	0.061000	0.15899	2.711000	0.47177	1.041000	0.40125	0.455000	0.32223	CAC	.		0.512	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		T	120438863	G	T	120438863	3	4	23	1	0	0	0	0	1	0	0	0	248	1290	45	3	2279	3	ADAM30	1	120438863	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	4232087	120438863	128811758	8	3024											
FLG2	388698	hgsc.bcm.edu	37	1	152323970	152323970	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:152323970C>T	ENST00000388718.5	-	3	6364	c.6292G>A	c.(6292-6294)Gct>Act	p.A2098T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2098					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)			CTTCTTCCAGCTGTCCTTGAC	0.522																																					p.A2098T		.											FLG2,NS,carcinoma,0,1	FLG2	0	0			c.G6292A						.						485	443	457					1																	152323970		2203	4300	6503	SO:0001583	missense	388698	exon3			TTCCAGCTGTCCT	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.6292G>A	1.37:g.152323970C>T	ENSP00000373370:p.Ala2098Thr	68	0		57	3	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.772	-0.255540	0.05829	.	.	ENSG00000143520	ENST00000388718	T	0.02216	4.39	4.32	-8.64	0.00874	.	.	.	.	.	T	0.00241	0.0007	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48547	-0.9026	9	0.13108	T	0.6	2.5472	6.7246	0.23348	0.2382:0.5153:0.0:0.2464	.	2098	Q5D862	FILA2_HUMAN	T	2098	ENSP00000373370:A2098T	ENSP00000373370:A2098T	A	-	1	0	FLG2	150590594	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.001000	0.00161	-1.903000	0.01093	-1.085000	0.02201	GCT	.		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152323970	C	T	152323970	3	4	23	1	0	0	0	0	1	0	0	0	5945	797	28	3	887	3	FLG2	1	152323970	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	31885107	152323970	96926651	9	3025											
NUP210L	91181	hgsc.bcm.edu	37	1	153965494	153965494	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:153965494G>T	ENST00000368559.3	-	39	5634	c.5563C>A	c.(5563-5565)Cca>Aca	p.P1855T	NUP210L_ENST00000271854.3_Missense_Mutation_p.P1703T|NUP210L_ENST00000368553.1_Missense_Mutation_p.P636T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1855					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTTTACCTGGCTGTGGTGTT	0.398																																					p.P1855T		.											.	.	.	0			c.C5563A						.						170	155	160					1																	153965494		1892	4119	6011	SO:0001583	missense	91181	exon39			TACCTGGCTGTGG	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5563C>A	1.37:g.153965494G>T	ENSP00000357547:p.Pro1855Thr	84	0		59	4	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393435	0.25205	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23147	3.59;1.92;3.25	4.75	2.86	0.33363	.	0.355612	0.24126	N	0.041308	T	0.04815	0.0130	L	0.34521	1.04	0.22737	N	0.998799	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.42766	-0.9432	10	0.13108	T	0.6	.	5.7802	0.18301	0.0921:0.0:0.5669:0.341	.	1703;1855	E7EP56;Q5VU65	.;P210L_HUMAN	T	1855;636;1703	ENSP00000357547:P1855T;ENSP00000357541:P636T;ENSP00000271854:P1703T	ENSP00000271854:P1703T	P	-	1	0	NUP210L	152232118	0.001000	0.12720	0.806000	0.32338	0.878000	0.50629	-0.545000	0.06069	0.416000	0.25844	0.484000	0.47621	CCA	.		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	153965494	G	T	153965494	3	4	23	1	0	0	0	0	1	0	0	0	10800	1203	42	3	111	3	NUP210L	1	153965494	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	1641524	153965494	95285127	10	3026											
PKLR	5313	ucsc.edu	37	1	155261558	155261558	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:155261558C>T	ENST00000342741.4	-	10	1645	c.1607G>A	c.(1606-1608)gGc>gAc	p.G536D	PKLR_ENST00000392414.3_Missense_Mutation_p.G505D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	536					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ACTTTCAATGCCAAATTGCAC	0.562																																					p.G536D													.	PKLR	70	0			c.G1607A						.						83	84	84					1																	155261558		2203	4300	6503	SO:0001583	missense	5313	exon10			TCAATGCCAAATT	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1607G>A	1.37:g.155261558C>T	ENSP00000339933:p.Gly536Asp	16	0		31	4	NM_000298	O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.162003	0.78226	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99051	-5.37;-5.37	4.85	4.85	0.62838	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.055968	0.64402	D	0.000001	D	0.99299	0.9755	M	0.90082	3.085	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.63192	0.912;0.912	D	0.99010	1.0814	10	0.87932	D	0	-31.4973	15.8449	0.78879	0.0:1.0:0.0:0.0	.	536;527	P30613;B1AVT1	KPYR_HUMAN;.	D	561;505;536;450	ENSP00000376214:G505D;ENSP00000339933:G536D	ENSP00000271946:G450D	G	-	2	0	PKLR	153528182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.979000	0.63806	2.673000	0.90976	0.558000	0.71614	GGC	.		0.562	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		T	155261558	C	T	155261558	3	4	23	1	0	0	0	0	1	0	0	0	12015	739	26	3	125	3	PKLR	1	155261558	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	1296064	155261558	93989063	11	3027											
FAM20B	9917	bcgsc.ca	37	1	179041172	179041172	+	Missense_Mutation	SNP	G	G	A	rs200757870		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:179041172G>A	ENST00000263733.4	+	8	1459	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	375						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TCTGGACGCCGTGGACCAGCG	0.552																																					p.V375M													.	FAM20B	38	0			c.G1123A						.						94	88	90					1																	179041172		2203	4300	6503	SO:0001583	missense	9917	exon8			GACGCCGTGGACC	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.1123G>A	1.37:g.179041172G>A	ENSP00000263733:p.Val375Met	34	0		24	3	NM_014864	Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	2.027	-0.423308	0.04734	.	.	ENSG00000116199	ENST00000263733	T	0.77358	-1.09	5.48	-1.56	0.08532	.	0.358973	0.29328	N	0.012461	T	0.43875	0.1267	N	0.03224	-0.385	0.26554	N	0.973852	B	0.06786	0.001	B	0.06405	0.002	T	0.21586	-1.0241	10	0.20519	T	0.43	-51.8311	1.6064	0.02684	0.3414:0.3142:0.2258:0.1186	.	375	O75063	XYLK_HUMAN	M	375	ENSP00000263733:V375M	ENSP00000263733:V375M	V	+	1	0	FAM20B	177307795	0.001000	0.12720	0.137000	0.22149	0.225000	0.24961	0.017000	0.13399	0.031000	0.15407	-0.136000	0.14681	GTG	G|0.999;A|0.001		0.552	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		A	179041172	G	A	179041172	3	1	23	1	0	0	0	0	1	0	0	0	5557	1145	40	1	1149	1	FAM20B	1	179041172	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	23779614	179041172	70209449	12	3028											
GLT25D2	23127	hgsc.bcm.edu	37	1	183908097	183908097	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:183908097G>A	ENST00000361927.4	-	12	2050	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	COLGALT2_ENST00000367521.1_Missense_Mutation_p.T168M|COLGALT2_ENST00000367520.3_Missense_Mutation_p.T297M|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000486375.1_Intron	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	560					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.T560M(1)									TGTGTAGTGCGTAGGGTAGAT	0.557																																					p.T560M		.											GLT25D2,colon,carcinoma,0,2	GLT25D2	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1679T						.						124	117	119					1																	183908097		2203	4300	6503	SO:0001583	missense	23127	exon12			TAGTGCGTAGGGT	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1679C>T	1.37:g.183908097G>A	ENSP00000354960:p.Thr560Met	35	0		26	2	NM_015101	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704101	0.88924	.	.	ENSG00000198756	ENST00000361927;ENST00000367521;ENST00000367520	T	0.79940	-1.32	5.21	5.21	0.72293	.	0.049946	0.85682	D	0.000000	D	0.90707	0.7084	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92015	0.5621	10	0.87932	D	0	.	18.7471	0.91797	0.0:0.0:1.0:0.0	.	560;297	Q8IYK4;Q5SXQ3	GT252_HUMAN;.	M	560;168;297	ENSP00000354960:T560M	ENSP00000354960:T560M	T	-	2	0	GLT25D2	182174720	1.000000	0.71417	0.919000	0.36401	0.853000	0.48598	7.694000	0.84235	2.411000	0.81874	0.563000	0.77884	ACG	.		0.557	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		A	183908097	G	A	183908097	3	1	23	1	0	0	0	0	1	0	0	0	6493	1145	40	1	205	1	GLT25D2	1	183908097	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	4866925	183908097	65342524	13	3029											
TPR	7175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	186312595	186312595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:186312595G>A	ENST00000367478.4	-	27	3909	c.3613C>T	c.(3613-3615)Cga>Tga	p.R1205*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1205					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)		TCTTTTTCTCGTCGTATAAAT	0.333			T	NTRK1	papillary thyroid																																p.R1205X		.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	.	0			c.C3613T						.						69	65	66					1																	186312595		1860	4096	5956	SO:0001587	stop_gained	7175	exon27			TTTCTCGTCGTAT	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.3613C>T	1.37:g.186312595G>A	ENSP00000356448:p.Arg1205*	105	0		81	35	NM_003292	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	44	10.551549	0.99426	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.07	-0.788	0.10939	.	0.219734	0.40144	N	0.001175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6392	0.76981	0.0:0.0:0.4097:0.5903	.	.	.	.	X	1205	.	ENSP00000356448:R1205X	R	-	1	2	TPR	184579218	0.991000	0.36638	0.994000	0.49952	0.799000	0.45148	1.968000	0.40500	-0.101000	0.12219	-0.314000	0.08810	CGA	.		0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		A	186312595	G	A	186312595	4	1	23	1	0	0	0	0	0	1	0	0	16464	1153	40	1	3578	1	TPR	1	186312595	Nonsense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	2404498	186312595	62938026	14	3030											
ASPM	259266	bcgsc.ca	37	1	197094085	197094085	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:197094085C>A	ENST00000367409.4	-	12	3339	c.3083G>T	c.(3082-3084)gGa>gTa	p.G1028V	ASPM_ENST00000367408.1_Splice_Site_p.G278V|ASPM_ENST00000294732.7_Splice_Site_p.G1028V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1028	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						AATTGTATTTCCTATAAAAGA	0.343																																					p.G1028V													.	ASPM	444	0			c.G3083T						.						117	122	121					1																	197094085		2203	4298	6501	SO:0001630	splice_region_variant	259266	exon12			GTATTTCCTATAA	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.3083-1G>T	1.37:g.197094085C>A		59	0		63	4	NM_001206846	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	36	5.901703	0.97087	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61627	0.09;1.36;1.22	5.55	5.55	0.83447	Calponin homology domain (4);	0.000000	0.64402	D	0.000001	T	0.72930	0.3522	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71437	-0.4593	10	0.49607	T	0.09	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	1028;1028	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	1028;1028;278	ENSP00000356379:G1028V;ENSP00000294732:G1028V;ENSP00000356378:G278V	ENSP00000294732:G1028V	G	-	2	0	ASPM	195360708	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	7.043000	0.76572	2.767000	0.95098	0.563000	0.77884	GGA	.		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	Missense_Mutation	A	197094085	C	A	197094085	5	1	23	1	0	0	0	0	0	0	1	0	1057	869	30	3	7418	3	ASPM	1	197094085	Splice_Site	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	10781490	197094085	52156536	15	3031											
YOD1	55432	hgsc.bcm.edu;bcgsc.ca	37	1	207223000	207223000	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:207223000C>A	ENST00000315927.4	-	2	458	c.412G>T	c.(412-414)Gct>Tct	p.A138S	PFKFB2_ENST00000411990.2_Intron|YOD1_ENST00000391927.1_Missense_Mutation_p.A94S|YOD1_ENST00000367084.1_Missense_Mutation_p.A94S	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	138					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)					TAACTAGAAGCACCACGTTTA	0.453																																					p.A138S		.											.	.	.	0			c.G412T						.						63	54	57					1																	207223000		2203	4300	6503	SO:0001583	missense	55432	exon2			TAGAAGCACCACG		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.412G>T	1.37:g.207223000C>A	ENSP00000326813:p.Ala138Ser	81	0		94	5	NM_018566	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	C	6.237	0.411921	0.11812	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	5.83	5.83	0.93111	.	0.343097	0.30611	N	0.009257	T	0.30479	0.0766	L	0.44542	1.39	0.80722	D	1	P;P	0.44734	0.763;0.842	B;B	0.33392	0.163;0.13	T	0.09400	-1.0676	9	0.14252	T	0.57	-4.1157	8.0002	0.30293	0.0:0.7506:0.163:0.0864	.	94;138	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	S	94;138;94	.	ENSP00000326813:A138S	A	-	1	0	YOD1	205289623	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.428000	0.52792	2.756000	0.94617	0.655000	0.94253	GCT	.		0.453	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		A	207223000	C	A	207223000	3	1	23	1	0	0	0	0	1	0	0	0	17537	710	25	3	638	3	YOD1	1	207223000	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	10128915	207223000	42027621	16	3032											
RAB3GAP2	25782	broad.mit.edu	37	1	220379290	220379290	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:220379290A>G	ENST00000358951.2	-	8	787	c.671T>C	c.(670-672)cTt>cCt	p.L224P		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	224					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)		AGATTGAAAAAGGCTAAATCC	0.289																																					p.L224P													.	RAB3GAP2	120	0			c.T671C						.						60	59	59					1																	220379290		2203	4299	6502	SO:0001583	missense	25782	exon8			TGAAAAAGGCTAA	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.671T>C	1.37:g.220379290A>G	ENSP00000351832:p.Leu224Pro	77	0		93	4	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496793	0.85069	.	.	ENSG00000118873	ENST00000358951	T	0.60040	0.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75172	-0.3411	10	0.87932	D	0	.	15.7371	0.77853	1.0:0.0:0.0:0.0	.	224	Q9H2M9	RBGPR_HUMAN	P	224	ENSP00000351832:L224P	ENSP00000351832:L224P	L	-	2	0	RAB3GAP2	218445913	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.251000	0.89838	2.177000	0.69029	0.460000	0.39030	CTT	.		0.289	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		G	220379290	A	G	220379290	3	3	23	1	0	0	0	0	1	0	0	0	12981	72	3	4	3622	4	RAB3GAP2	1	220379290	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09	13156290	220379290	28871331	17	3033											
OBSCN	84033	broad.mit.edu	37	1	228433225	228433225	+	Missense_Mutation	SNP	C	C	T	rs545938369		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:228433225C>T	ENST00000422127.1	+	12	3637	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M	OBSCN_ENST00000570156.2_Missense_Mutation_p.T1290M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1198M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1198	Ig-like 12.				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)				ACAGAGGTGACGTGGTACAAG	0.592													C|||	1	0.000199681	0	0	5008	,	,		17665	0.001		0	False		,,,				2504	0				p.T1290M													.	OBSCN	2142	0			c.C3869T						.						91	89	90					1																	228433225		2081	4203	6284	SO:0001583	missense	84033	exon13			AGGTGACGTGGTA	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.3593C>T	1.37:g.228433225C>T	ENSP00000409493:p.Thr1198Met	75	0		47	3	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	.	.	.	.	.	.	.	.	.	.	.	6.709	0.499436	0.12762	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.68765	-0.35;-0.35	4.38	-1.36	0.09085	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.383922	0.25484	N	0.030341	T	0.72803	0.3506	M	0.72118	2.19	0.58432	D	0.999991	D;P	0.89917	1.0;0.937	D;P	0.76071	0.987;0.49	T	0.68164	-0.5481	10	0.49607	T	0.09	.	4.1871	0.10404	0.2807:0.3531:0.0:0.3662	.	1198;1198	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1198	ENSP00000284548:T1198M;ENSP00000409493:T1198M	ENSP00000284548:T1198M	T	+	2	0	OBSCN	226499848	0.774000	0.28592	0.021000	0.16686	0.012000	0.07955	1.648000	0.37271	-0.231000	0.09825	-0.667000	0.03836	ACG	.		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228433225	C	T	228433225	3	4	23	1	0	0	0	0	1	0	0	0	10851	536	19	1	3635	1	OBSCN	1	228433225	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	8053935	228433225	20817396	18	3034											
OBSCN	84033	hgsc.bcm.edu	37	1	228480450	228480450	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:228480450C>T	ENST00000422127.1	+	40	10874	c.10830C>T	c.(10828-10830)tgC>tgT	p.C3610C	OBSCN_ENST00000359599.6_Silent_p.C2457C|OBSCN_ENST00000284548.11_Silent_p.C3610C|OBSCN_ENST00000570156.2_Silent_p.C4039C|OBSCN_ENST00000366709.4_Silent_p.C729C|OBSCN_ENST00000366707.4_Silent_p.C729C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3610	Ig-like 36.				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)				CGTGCGTGTGCGGGCAGGAGA	0.587																																					p.C4039C		.											OBSCN_ENST00000570156,colon,carcinoma,0,4	OBSCN_ENST00000570156	0	0			c.C12117T						.						118	119	118					1																	228480450		2141	4240	6381	SO:0001819	synonymous_variant	84033	exon45			CGTGTGCGGGCAG	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.10830C>T	1.37:g.228480450C>T		36	0		43	2	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																																																																																			.		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228480450	C	T	228480450	2	4	23	1	0	0	0	0	0	0	0	1	10851	776	27	1		1	OBSCN	1	228480450	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	47225	228480450	20770171	19	3035											
NLRP3	114548	hgsc.bcm.edu	37	1	247588563	247588563	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:247588563G>T	ENST00000336119.3	+	3	2564	c.1818G>T	c.(1816-1818)ctG>ctT	p.L606L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L606L|NLRP3_ENST00000391828.3_Silent_p.L606L|NLRP3_ENST00000391827.2_Silent_p.L606L|NLRP3_ENST00000348069.2_Silent_p.L606L|NLRP3_ENST00000366497.2_Silent_p.L606L	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	606					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)	p.L606L(1)		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)			AAATCAGGCTGGAGCTGCTGA	0.458																																					p.L606L		.											NLRP3,NS,carcinoma,0,1	NLRP3	0	1	Substitution - coding silent(1)	lung(1)	c.G1818T						.						52	53	52					1																	247588563		2203	4300	6503	SO:0001819	synonymous_variant	114548	exon3			CAGGCTGGAGCTG	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.1818G>T	1.37:g.247588563G>T		35	0		27	2	NM_183395	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	CCDS1632.1																																																																																			.		0.458	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247588563	G	T	247588563	2	4	23	1	0	0	0	0	0	0	0	1	10517	1335	47	3		3	NLRP3	1	247588563	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	19108113	247588563	1662058	20	3036											
OR2T33	391195	hgsc.bcm.edu	37	1	248436878	248436878	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:248436878G>A	ENST00000318021.2	-	1	260	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	80						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)			GTAGTCAGCCGCCATTTTGGG	0.567																																					p.A80V		.											OR2T33,bladder,carcinoma,0,1	OR2T33	0	0			c.C239T						.						65	62	63					1																	248436878		2087	4077	6164	SO:0001583	missense	391195	exon1			TCAGCCGCCATTT		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.239C>T	1.37:g.248436878G>A	ENSP00000324687:p.Ala80Val	86	0		90	4	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.792	0.147207	0.09134	.	.	ENSG00000177212	ENST00000318021	T	0.00441	7.41	2.7	0.695	0.18070	GPCR, rhodopsin-like superfamily (1);	0.224332	0.22373	U	0.060913	T	0.00210	0.0006	L	0.33137	0.985	0.09310	N	1	P	0.43885	0.82	B	0.34652	0.187	T	0.34527	-0.9825	10	0.09084	T	0.74	.	5.7703	0.18249	0.4414:0.0:0.5586:0.0	.	80	Q8NG76	O2T33_HUMAN	V	80	ENSP00000324687:A80V	ENSP00000324687:A80V	A	-	2	0	OR2T33	246503501	0.484000	0.25964	0.379000	0.26080	0.203000	0.24098	3.948000	0.56660	0.408000	0.25621	0.494000	0.49563	GCG	.		0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		A	248436878	G	A	248436878	3	1	23	1	0	0	0	0	1	0	0	0	11063	1087	38	1	726	1	OR2T33	1	248436878	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	848315	248436878	813743	21	3037											
EHD3	30845	hgsc.bcm.edu	37	2	31457587	31457587	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:31457587C>T	ENST00000322054.5	+	1	385	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	EHD3_ENST00000541626.1_Silent_p.L34L	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	34					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|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)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGCAAGCTGCTGCCCTTGGA	0.597																																					p.L34L		.											EHD3,NS,carcinoma,0,1	EHD3	0	0			c.C100T						.						102	98	99					2																	31457587		2203	4300	6503	SO:0001819	synonymous_variant	30845	exon1			AAGCTGCTGCCCT	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.100C>T	2.37:g.31457587C>T		76	0		75	3	NM_014600	B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	CCDS1774.1																																																																																			.		0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		T	31457587	C	T	31457587	2	4	23	1	0	0	0	0	0	0	0	1	4993	796	28	3		3	EHD3	2	31457587	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		31457587	211741786	22	3038											
TMEM150A	129303	hgsc.bcm.edu	37	2	85826690	85826690	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:85826690G>T	ENST00000409668.1	-	6	999	c.532C>A	c.(532-534)Cga>Aga	p.R178R	TMEM150A_ENST00000334462.5_Silent_p.R178R|TMEM150A_ENST00000306353.3_Silent_p.R125R			Q86TG1	T150A_HUMAN	transmembrane protein 150A	178					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R178*(1)		breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						AGCACACTTCGCAGATAGGCC	0.607																																					p.R178R		.											TMEM150A,NS,carcinoma,0,1	TMEM150A	0	1	Substitution - Nonsense(1)	endometrium(1)	c.C532A						.						77	76	76					2																	85826690		2203	4300	6503	SO:0001819	synonymous_variant	129303	exon7			CACTTCGCAGATA	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.532C>A	2.37:g.85826690G>T		30	0		35	2	NM_001031738	A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	ENST00000409668.1	37	CCDS33233.1																																																																																			.		0.607	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		T	85826690	G	T	85826690	2	4	23	1	0	0	0	0	0	0	0	1	16114	1095	38	2		2	TMEM150A	2	85826690	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	54369103	85826690	157372683	23	3039											
CCDC138	165055	hgsc.bcm.edu	37	2	109405307	109405307	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:109405307G>T	ENST00000295124.4	+	3	211		c.e3-1		CCDC138_ENST00000470608.1_Splice_Site|CCDC138_ENST00000412964.2_Splice_Site	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138									p.?(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTCGTTGACAGGTGATTTGGA	0.338																																					.		.											CCDC138,NS,carcinoma,0,1	CCDC138	0	1	Unknown(1)	endometrium(1)	c.152-1G>T						.						148	138	142					2																	109405307		2203	4300	6503	SO:0001630	splice_region_variant	165055	exon3			TTGACAGGTGATT	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.152-1G>T	2.37:g.109405307G>T		50	0		27	2	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Splice_Site	SNP	ENST00000295124.4	37	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921831	0.17982	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9993	0.53222	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC138	108771739	1.000000	0.71417	0.749000	0.31150	0.143000	0.21401	4.191000	0.58372	2.540000	0.85666	0.655000	0.94253	.	.		0.338	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978	Intron	T	109405307	G	T	109405307	5	4	23	1	0	0	0	0	0	0	1	0	2779	1014	35	3	161	3	CCDC138	2	109405307	Splice_Site	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	23578617	109405307	133794066	24	3040											
WDR33	55339	hgsc.bcm.edu	37	2	128520647	128520647	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:128520647C>T	ENST00000322313.4	-	7	871	c.713G>A	c.(712-714)aGa>aAa	p.R238K	WDR33_ENST00000393006.1_Missense_Mutation_p.R238K|WDR33_ENST00000409658.3_3'UTR	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	238					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)		TCGGAGAATTCTTTCCTCATG	0.393																																					p.R238K		.											WDR33,NS,carcinoma,0,1	WDR33	0	0			c.G713A						.						111	105	107					2																	128520647		2203	4300	6503	SO:0001583	missense	55339	exon7			AGAATTCTTTCCT		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.713G>A	2.37:g.128520647C>T	ENSP00000325377:p.Arg238Lys	56	0		45	2	NM_001006623	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260727	0.59431	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006	T;T;T	0.60171	0.21;0.21;5.0	5.91	5.91	0.95273	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	0.70587	0.3241	L	0.39566	1.225	0.80722	D	1	B;D	0.57257	0.011;0.979	B;D	0.74023	0.009;0.982	T	0.67558	-0.5640	10	0.45353	T	0.12	-15.965	20.3552	0.98837	0.0:1.0:0.0:0.0	.	238;238	Q6NUQ0;Q9C0J8	.;WDR33_HUMAN	K	238;160;238	ENSP00000325377:R238K;ENSP00000397547:R160K;ENSP00000376730:R238K	ENSP00000325377:R238K	R	-	2	0	WDR33	128237117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.812000	0.96745	0.558000	0.71614	AGA	.		0.393	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		T	128520647	C	T	128520647	3	4	23	1	0	0	0	0	1	0	0	0	17336	913	32	3	3415	3	WDR33	2	128520647	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	19115340	128520647	114678726	25	3041											
TUBA3D	113457	broad.mit.edu	37	2	132236997	132236997	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:132236997G>T	ENST00000321253.6	+	3	450	c.343G>T	c.(343-345)Gtt>Ttt	p.V115F	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	115					'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)		CAAGGAGATTGTTGACCTAGT	0.527																																					p.V115F	Ovarian(137;2059 2432 35543 39401)												.	TUBA3D	60	0			c.G343T						.						166	149	155					2																	132236997		2203	4300	6503	SO:0001583	missense	113457	exon3			GAGATTGTTGACC	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.343G>T	2.37:g.132236997G>T	ENSP00000326042:p.Val115Phe	80	0		59	3	NM_080386	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	5.825	0.336532	0.11013	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68765	-0.35	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.41294	U	0.000915	T	0.57388	0.2050	L	0.56769	1.78	0.41849	D	0.990168	B	0.09022	0.002	B	0.20577	0.03	T	0.59989	-0.7350	10	0.87932	D	0	.	4.9298	0.13912	0.1848:0.0:0.8152:0.0	.	115	Q13748	TBA3C_HUMAN	F	115	ENSP00000326042:V115F	ENSP00000326042:V115F	V	+	1	0	TUBA3D	131953467	1.000000	0.71417	0.998000	0.56505	0.745000	0.42441	3.304000	0.51866	1.243000	0.43853	0.194000	0.17425	GTT	.		0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		T	132236997	G	T	132236997	3	4	23	1	0	0	0	0	1	0	0	0	16796	1377	48	3	353	3	TUBA3D	2	132236997	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	3716350	132236997	110962376	26	3042											
FSIP2	401024	hgsc.bcm.edu;bcgsc.ca	37	2	186666462	186666462	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:186666462A>T	ENST00000424728.1	+	17	12429	c.12429A>T	c.(12427-12429)ttA>ttT	p.L4143F	FSIP2_ENST00000343098.5_Missense_Mutation_p.L4232F|AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4143										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTCATTTTTAGAAGATGTCA	0.313																																					p.L4232F		.											.	.	.	0			c.A12696T						.																																			SO:0001583	missense	401024	exon17			ATTTTTAGAAGAT	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.12429A>T	2.37:g.186666462A>T	ENSP00000401306:p.Leu4143Phe	53	0		31	12	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	A	14.90	2.672313	0.47781	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.64085	-0.08;-0.07	4.92	4.92	0.64577	.	.	.	.	.	T	0.57844	0.2081	L	0.29908	0.895	0.31093	N	0.710622	.	.	.	.	.	.	T	0.65005	-0.6273	7	0.87932	D	0	.	10.8807	0.46937	1.0:0.0:0.0:0.0	.	.	.	.	F	4232;4143	ENSP00000344403:L4232F;ENSP00000401306:L4143F	ENSP00000344403:L4232F	L	+	3	2	FSIP2	186374707	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.969000	0.29370	2.047000	0.60756	0.455000	0.32223	TTA	.		0.313	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		T	186666462	A	T	186666462	3	4	23	1	0	0	0	0	1	0	0	0	6099	417	15	5	12762	5	FSIP2	2	186666462	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09	54429465	186666462	56532911	27	3043											
ALS2CR12	130540	hgsc.bcm.edu	37	2	202216087	202216087	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:202216087G>T	ENST00000286190.5	-	1	87	c.41C>A	c.(40-42)cCc>cAc	p.P14H	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.P14H|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.P14H|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.P14H			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	14					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						CAAGTTCCAGGGGTCCCAGCA	0.527																																					p.P14H		.											ALS2CR12,NS,carcinoma,0,1	ALS2CR12	0	0			c.C41A						.						92	89	90					2																	202216087		2203	4300	6503	SO:0001583	missense	130540	exon2			TTCCAGGGGTCCC	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.41C>A	2.37:g.202216087G>T	ENSP00000286190:p.Pro14His	32	0		46	3	NM_001127391	G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253635	0.59212	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.67171	0.91;0.91;0.91;0.91;-0.25	5.06	4.17	0.49024	.	0.241551	0.29752	N	0.011298	T	0.77130	0.4085	M	0.62723	1.935	0.25882	N	0.983577	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.68754	-0.5325	10	0.59425	D	0.04	-5.1099	11.2233	0.48869	0.0:0.0:0.8182:0.1818	.	14;14	Q96Q35;G5E9S3	AL2SB_HUMAN;.	H	14	ENSP00000286190:P14H;ENSP00000385098:P14H;ENSP00000376086:P14H;ENSP00000412073:P14H;ENSP00000407585:P14H	ENSP00000286190:P14H	P	-	2	0	ALS2CR12	201924332	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.882000	0.48546	1.457000	0.47850	0.655000	0.94253	CCC	.		0.527	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		T	202216087	G	T	202216087	3	4	23	1	0	0	0	0	1	0	0	0	553	1232	43	3	1352	3	ALS2CR12	2	202216087	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	15549625	202216087	40983286	28	3044											
UGT1A9	54600	hgsc.bcm.edu	37	2	234581157	234581157	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:234581157A>C	ENST00000354728.4	+	1	659	c.577A>C	c.(577-579)Att>Ctt	p.I193L	UGT1A1_ENST00000609637.1_Missense_Mutation_p.I193L|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	193					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)	TGTCCCCAGAATTCTCTTAGG	0.468																																					p.I193L		.											UGT1A9,NS,carcinoma,0,2	UGT1A9	0	0			c.A577C						.						156	165	162					2																	234581157		2203	4297	6500	SO:0001583	missense	54600	exon1			CCCAGAATTCTCT	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.577A>C	2.37:g.234581157A>C	ENSP00000346768:p.Ile193Leu	74	1		67	3	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.771680	0.00645	.	.	ENSG00000241119	ENST00000354728	T	0.59224	0.28	3.41	-6.83	0.01693	.	.	.	.	.	T	0.22936	0.0554	N	0.02960	-0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13629	-1.0502	9	0.13470	T	0.59	.	5.5972	0.17333	0.4182:0.4051:0.0932:0.0834	.	193;193	Q5DSZ5;O60656	.;UD19_HUMAN	L	193	ENSP00000346768:I193L	ENSP00000346768:I193L	I	+	1	0	UGT1A9	234245896	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-10.910000	0.00005	-3.181000	0.00222	-0.690000	0.03725	ATT	.		0.468	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		C	234581157	A	C	234581157	3	2	23	1	0	0	0	0	1	0	0	0	17001	101	4	4	579	4	UGT1A9	2	234581157	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09	32365070	234581157	8618216	29	3045											
VHL	7428	hgsc.bcm.edu	37	3	10191635	10191635	+	Silent	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:10191635C>A	ENST00000256474.2	+	3	1468	c.628C>A	c.(628-630)Cgg>Agg	p.R210R	VHL_ENST00000345392.2_Silent_p.R169R|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	210					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R210fs*>3(1)|p.R210fs*6(1)|p.Q209fs*>3(1)|p.R210W(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCACATCAACGGATGGGAGA	0.478		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																												p.R210R		.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	VHL,NS,carcinoma,-2,1	VHL	-2	4	Deletion - Frameshift(2)|Substitution - Missense(1)|Insertion - Frameshift(1)	kidney(3)|central_nervous_system(1)	c.C628A						.						61	52	55					3																	10191635		2203	4300	6503	SO:0001819	synonymous_variant	7428	exon3	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	CATCAACGGATGG	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.628C>A	3.37:g.10191635C>A		26	0		23	2	NM_000551	B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																			.		0.478	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10191635	C	A	10191635	2	1	23	1	0	0	0	0	0	0	0	1	17211	527	19	2		2	VHL	3	10191635	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		10191635	187830795	30	3046											
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52661362	52661362	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:52661362T>A	ENST00000296302.7	-	13	1469	c.1468A>T	c.(1468-1470)Aga>Tga	p.R490*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R490*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R490*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R490*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R490*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R458*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R490*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R490*			Q86U86	PB1_HUMAN	polybromo 1	490					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)		ATATCGTCTCTCCTGGCAAGC	0.443			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.R490X		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	.	.	0			c.A1468T						.						126	112	117					3																	52661362		2203	4300	6503	SO:0001587	stop_gained	55193	exon14			CGTCTCTCCTGGC	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.1468A>T	3.37:g.52661362T>A	ENSP00000296302:p.Arg490*	51	0		47	23	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	39	7.500951	0.98322	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.93	4.75	0.60458	.	0.047676	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-38.2216	13.1802	0.59649	0.0:0.0:0.1332:0.8668	.	.	.	.	X	458;490;490;490;490;490;490;490;490;434	.	ENSP00000296302:R490X	R	-	1	2	PBRM1	52636402	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.745000	0.68672	1.046000	0.40249	0.533000	0.62120	AGA	.		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52661362	T	A	52661362	4	1	23	1	0	0	0	0	0	1	0	0	11530	1559	54	5	3504	5	PBRM1	3	52661362	Nonsense_Mutation	SNP	T	TCGA-W5-AA38-01A-11D-A417-09	42469727	52661362	145361068	31	3047											
C3orf67	200844	hgsc.bcm.edu	37	3	58870322	58870322	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:58870322G>T	ENST00000482387.1	-	3	385	c.289C>A	c.(289-291)Cgc>Agc	p.R97S	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R97S|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R17S|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408																																					p.R97S		.											C3orf67,NS,carcinoma,0,1	C3orf67	0	0			c.C289A						.						211	202	205					3																	58870322		2203	4300	6503	SO:0001583	missense	200844	exon7			TTTGGCGAAGTTT	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.289C>A	3.37:g.58870322G>T	ENSP00000417122:p.Arg97Ser	64	0		44	2	NM_198463	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.057796	0.76074	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.48836	0.8;0.8;0.8	5.61	5.61	0.85477	.	0.410282	0.27906	N	0.017375	T	0.56992	0.2023	L	0.52573	1.65	0.80722	D	1	D;D	0.56746	0.977;0.96	P;P	0.55303	0.773;0.756	T	0.52726	-0.8537	9	.	.	.	-1.7255	16.5603	0.84551	0.0:0.0:1.0:0.0	.	17;97	C9J3M8;Q6ZVT6-2	.;.	S	97;97;17	ENSP00000295966:R97S;ENSP00000417122:R97S;ENSP00000417271:R17S	.	R	-	1	0	C3orf67	58845362	0.998000	0.40836	0.987000	0.45799	0.588000	0.36517	3.374000	0.52402	2.638000	0.89438	0.655000	0.94253	CGC	.		0.408	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		T	58870322	G	T	58870322	3	4	23	1	0	0	0	0	1	0	0	0	2248	1058	37	2	1442	2	C3orf67	3	58870322	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	6208960	58870322	139152108	32	3048											
CCDC80	151887	hgsc.bcm.edu	37	3	112357186	112357186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:112357186C>A	ENST00000206423.3	-	2	2520	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E523*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	523	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.E523*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACCTGCAGCTCGTCCTCCAGC	0.448																																					p.E523X		.											CCDC80,NS,carcinoma,0,1	CCDC80	0	1	Substitution - Nonsense(1)	lung(1)	c.G1567T						.						60	61	61					3																	112357186		2203	4300	6503	SO:0001587	stop_gained	151887	exon2			GCAGCTCGTCCTC	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1567G>T	3.37:g.112357186C>A	ENSP00000206423:p.Glu523*	32	0		37	2	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Nonsense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	48	14.301043	0.99789	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	.	.	.	5.46	5.46	0.80206	.	0.218238	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-35.6478	10.1358	0.42706	0.0:0.7899:0.1376:0.0725	.	.	.	.	X	523;523;151	.	ENSP00000206423:E523X	E	-	1	0	CCDC80	113839876	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	2.468000	0.45102	2.741000	0.93983	0.555000	0.69702	GAG	.		0.448	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		A	112357186	C	A	112357186	4	1	23	1	0	0	0	0	0	1	0	0	2861	893	31	2	1313	2	CCDC80	3	112357186	Nonsense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	53486864	112357186	85665244	33	3049											
CLSTN2	64084	hgsc.bcm.edu	37	3	140178551	140178551	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:140178551G>T	ENST00000458420.3	+	7	1352	c.1162G>T	c.(1162-1164)Ggc>Tgc	p.G388C	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	388					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.G388S(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						GATGAAACACGGCCCCAGCCC	0.572										HNSCC(16;0.037)																											p.G388C	GBM(45;858 913 3709 36904 37282)	.											CLSTN2,NS,carcinoma,0,1	CLSTN2	0	1	Substitution - Missense(1)	lung(1)	c.G1162T						.						85	73	77					3																	140178551		2203	4300	6503	SO:0001583	missense	64084	exon7			AAACACGGCCCCA	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.1162G>T	3.37:g.140178551G>T	ENSP00000402460:p.Gly388Cys	48	0		38	2	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778322	0.90195	.	.	ENSG00000158258	ENST00000458420	T	0.73789	-0.78	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87928	0.2708	10	0.87932	D	0	-18.1927	16.6974	0.85339	0.0:0.0:1.0:0.0	.	388	Q9H4D0	CSTN2_HUMAN	C	388	ENSP00000402460:G388C	ENSP00000402460:G388C	G	+	1	0	CLSTN2	141661241	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.869000	0.99810	2.552000	0.86080	0.655000	0.94253	GGC	.		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		T	140178551	G	T	140178551	3	4	23	1	0	0	0	0	1	0	0	0	3569	1116	39	2	1188	2	CLSTN2	3	140178551	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	27821365	140178551	57843879	34	3050											
BCHE	590	broad.mit.edu;bcgsc.ca	37	3	165547680	165547680	+	Frame_Shift_Del	DEL	C	C	-	rs373114728		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:165547680delC	ENST00000264381.3	-	2	1308	c.1142delG	c.(1141-1143)ggtfs	p.G381fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	381					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)	TATTTTTAAACCTTCCTGAAA	0.368																																					p.G381fs													.	BCHE	136	0			c.1142delG						.						32	35	34					3																	165547680		2200	4297	6497	SO:0001589	frameshift_variant	590	exon2			TTTAAACCTTCCT	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.1142delG	3.37:g.165547680delC	ENSP00000264381:p.Gly381fs	89	0		50	7	NM_000055	A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	CCDS3198.1																																																																																			.		0.368	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			-	165547680	C	-	165547680	7	5	23	1	0	1	0	1	0	0	0	0	1359	507	18	0	678	0	BCHE	3	165547680	Frame_Shift_Del	DEL	C	TCGA-W5-AA38-01A-11D-A417-09	25369129	165547680	32474750	35	3051											
FYTTD1	84248	hgsc.bcm.edu	37	3	197500335	197500335	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:197500335C>T	ENST00000241502.4	+	5	781	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	FYTTD1_ENST00000424384.2_Missense_Mutation_p.R120C|FYTTD1_ENST00000428395.2_Missense_Mutation_p.R96C|FYTTD1_ENST00000415708.2_Missense_Mutation_p.R161C	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	187					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	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;0.175)		GAAAGATACTCGTCAGGCAAC	0.358																																					p.R187C		.											FYTTD1,NS,carcinoma,0,1	FYTTD1	0	0			c.C559T						.						48	48	48					3																	197500335		2203	4298	6501	SO:0001583	missense	84248	exon5			GATACTCGTCAGG	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"UAP56-interacting factor"					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.559C>T	3.37:g.197500335C>T	ENSP00000241502:p.Arg187Cys	97	1		76	4	NM_032288	A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451649	0.84209	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.06	5.06	0.68205	.	0.099859	0.64402	D	0.000002	T	0.68769	0.3037	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.83275	0.996;0.739	T	0.70487	-0.4858	10	0.87932	D	0	-6.5174	16.7901	0.85586	0.0:1.0:0.0:0.0	.	161;187	Q96QD9-2;Q96QD9	.;UIF_HUMAN	C	120;161;96;187;120	ENSP00000399896:R120C;ENSP00000393746:R161C;ENSP00000391157:R96C;ENSP00000241502:R187C;ENSP00000394631:R120C	ENSP00000241502:R187C	R	+	1	0	FYTTD1	198984732	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.986000	0.49370	2.806000	0.96561	0.644000	0.83932	CGT	.		0.358	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		T	197500335	C	T	197500335	3	4	23	1	0	0	0	0	1	0	0	0	6151	884	31	1	606	1	FYTTD1	3	197500335	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	31952655	197500335	522095	36	3052											
GABRA2	2555	bcgsc.ca	37	4	46263983	46263983	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:46263983C>A	ENST00000510861.1	-	9	1192	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	GABRA2_ENST00000507069.1_Missense_Mutation_p.R340I|GABRA2_ENST00000515082.1_Missense_Mutation_p.R340I|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340I|GABRA2_ENST00000540012.1_Missense_Mutation_p.R285I|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340I|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					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)	AGCCCATCCTCTTTTGGTGAA	0.393																																					p.R340I													.	GABRA2	134	0			c.G1019T						.						115	108	110					4																	46263983		2203	4300	6503	SO:0001583	missense	2555	exon9			CATCCTCTTTTGG		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.1019G>T	4.37:g.46263983C>A	ENSP00000421828:p.Arg340Ile	68	0		22	3	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216235	0.95104	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;T;D	0.86497	-2.13;-2.13;-2.13;-2.13;-1.85;-0.87;-1.85	5.44	5.44	0.79542	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.91635	0.995;0.956;0.999	D	0.92131	0.5712	10	0.59425	D	0.04	.	18.609	0.91277	0.0:1.0:0.0:0.0	.	285;340;340	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	I	340;340;340;340;285;340;340	ENSP00000421828:R340I;ENSP00000421300:R340I;ENSP00000371033:R340I;ENSP00000348897:R340I;ENSP00000444409:R285I;ENSP00000427603:R340I;ENSP00000423840:R340I	ENSP00000348897:R340I	R	-	2	0	GABRA2	45958740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.949000	0.70257	2.723000	0.93209	0.655000	0.94253	AGA	.		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			A	46263983	C	A	46263983	3	1	23	1	0	0	0	0	1	0	0	0	6185	913	32	3	344	3	GABRA2	4	46263983	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		46263983	144890293	37	3053											
CFI	3426	hgsc.bcm.edu	37	4	110663684	110663684	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:110663684G>A	ENST00000394634.2	-	12	1704	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y	CFI_ENST00000394635.3_Silent_p.Y507Y|CFI_ENST00000512148.1_Silent_p.Y492Y	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	499	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	p.Y499Y(1)		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)		AACGATTTCCGTAAAACTTAG	0.358																																					p.Y499Y		.											CFI,colon,NS,0,1	CFI	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C1497T						.						122	115	118					4																	110663684		2202	4299	6501	SO:0001819	synonymous_variant	3426	exon12			ATTTCCGTAAAAC	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.1497C>T	4.37:g.110663684G>A		63	0		34	2	NM_000204	O60442	Silent	SNP	ENST00000394634.2	37	CCDS34049.1																																																																																			.		0.358	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		A	110663684	G	A	110663684	2	1	23	1	0	0	0	0	0	0	0	1	3296	1140	40	1		1	CFI	4	110663684	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	64399701	110663684	80490592	38	3054											
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	134071413	134071413	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:134071413G>C	ENST00000264360.5	+	1	944	c.118G>C	c.(118-120)Gat>Cat	p.D40H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	40	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(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TATCGCTGAAGATCTGGGTCT	0.532																																					p.D40H		.											.	.	.	0			c.G118C						.						127	122	124					4																	134071413		2203	4300	6503	SO:0001583	missense	57575	exon1			GCTGAAGATCTGG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.118G>C	4.37:g.134071413G>C	ENSP00000264360:p.Asp40His	79	0		32	6	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764700	0.69878	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.62105	0.05	4.77	4.77	0.60923	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.46758	D	0.000263	D	0.82582	0.5068	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86438	0.1765	10	0.87932	D	0	.	17.5654	0.87918	0.0:0.0:1.0:0.0	.	40;40	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	40	ENSP00000264360:D40H	ENSP00000264360:D40H	D	+	1	0	PCDH10	134290863	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.462000	0.83206	0.555000	0.69702	GAT	.		0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		C	134071413	G	C	134071413	3	2	23	1	0	0	0	0	1	0	0	0	11546	942	33	5	120	5	PCDH10	4	134071413	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	23407729	134071413	57082863	39	3055											
GALNTL6	442117	hgsc.bcm.edu	37	4	173804049	173804049	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:173804049C>T	ENST00000506823.1	+	8	1689	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	GALNTL6_ENST00000508122.1_Silent_p.I327I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	344	Catalytic subdomain B.				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)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGTATGAAATCTCTTTTAAGG	0.423																																					p.I344I		.											GALNTL6,NS,carcinoma,0,1	GALNTL6	0	0			c.C1032T						.						122	126	125					4																	173804049		2203	4300	6503	SO:0001819	synonymous_variant	442117	exon8			TGAAATCTCTTTT		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1032C>T	4.37:g.173804049C>T		66	0		38	2	NM_001034845	Q2L4S6	Silent	SNP	ENST00000506823.1	37	CCDS34104.1																																																																																			.		0.423	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		T	173804049	C	T	173804049	2	4	23	1	0	0	0	0	0	0	0	1	6250	903	32	3		3	GALNTL6	4	173804049	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	39732636	173804049	17350227	40	3056											
F11	2160	bcgsc.ca	37	4	187194273	187194273	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:187194273G>T	ENST00000403665.2	+	4	619	c.267G>T	c.(265-267)gtG>gtT	p.V89V	F11_ENST00000264692.4_Silent_p.V89V|F11_ENST00000492972.2_Silent_p.V89V	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	89	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)	TGCCAAGAGTGAATAGGACAG	0.338																																					p.V89V													.	F11	65	0			c.G267T						.						99	92	94					4																	187194273		2203	4300	6503	SO:0001819	synonymous_variant	2160	exon4			AAGAGTGAATAGG	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.267G>T	4.37:g.187194273G>T		36	0		21	3	NM_000128	D3DP64|Q4W5C2|Q9Y495	Silent	SNP	ENST00000403665.2	37	CCDS3847.1																																																																																			.		0.338	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			T	187194273	G	T	187194273	2	4	23	1	0	0	0	0	0	0	0	1	5353	1277	45	3		3	F11	4	187194273	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	13390224	187194273	3960003	41	3057											
FASTKD3	79072	hgsc.bcm.edu	37	5	7867809	7867809	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:7867809C>T	ENST00000264669.5	-	2	524	c.388G>A	c.(388-390)Gca>Aca	p.A130T	MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	130					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A130T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTCCTGCTGCCATAGTGTCA	0.418																																					p.A130T		.											FASTKD3,bladder,carcinoma,0,1	FASTKD3	0	1	Substitution - Missense(1)	urinary_tract(1)	c.G388A						.						51	49	50					5																	7867809		2203	4300	6503	SO:0001583	missense	79072	exon2			CTGCTGCCATAGT	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.388G>A	5.37:g.7867809C>T	ENSP00000264669:p.Ala130Thr	37	0		16	2	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138330	0.77775	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.26067	1.76;1.76;1.76	4.43	3.57	0.40892	.	0.369401	0.29438	N	0.012144	T	0.36663	0.0975	M	0.68593	2.085	0.58432	D	0.999999	D	0.61080	0.989	P	0.53146	0.719	T	0.13202	-1.0518	10	0.23302	T	0.38	-6.3781	12.4391	0.55615	0.0:0.9187:0.0:0.0813	.	130	Q14CZ7	FAKD3_HUMAN	T	130;130;113	ENSP00000264669:A130T;ENSP00000426008:A130T;ENSP00000422443:A113T	ENSP00000264669:A130T	A	-	1	0	FASTKD3	7920809	1.000000	0.71417	0.279000	0.24732	0.716000	0.41182	4.732000	0.62029	1.095000	0.41419	0.655000	0.94253	GCA	.		0.418	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		T	7867809	C	T	7867809	3	4	23	1	0	0	0	0	1	0	0	0	5709	739	26	3	1624	3	FASTKD3	5	7867809	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		7867809	173047451	42	3058											
APC	324	hgsc.bcm.edu	37	5	112155042	112155042	+	Splice_Site	SNP	G	G	T	rs397514030		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:112155042G>T	ENST00000457016.1	+	10	1692		c.e10+1		APC_ENST00000257430.4_Splice_Site|APC_ENST00000508376.2_Splice_Site			P25054	APC_HUMAN	adenomatous polyposis coli						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)			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)		AAAAATCCAAGTATGTTCTCT	0.393		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)																											.	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	APC,colon,carcinoma,0,1	APC	0	0			c.1258+1G>T	GRCh37	CS021159	APC	S		.						54	52	53					5																	112155042		2202	4300	6502	SO:0001630	splice_region_variant	324	exon8	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ATCCAAGTATGTT	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.1312+1G>T	5.37:g.112155042G>T		33	0		34	2	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Splice_Site	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167836	0.78339	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APC	112182941	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.755000	0.94549	0.650000	0.86243	.	.		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	Intron	T	112155042	G	T	112155042	5	4	23	1	0	0	0	0	0	0	1	0	763	1043	36	3	1347	3	APC	5	112155042	Splice_Site	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	104287233	112155042	68760218	43	3059											
AFF4	27125	ucsc.edu	37	5	132219204	132219204	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:132219204G>A	ENST00000265343.5	-	20	3571	c.3192C>T	c.(3190-3192)ggC>ggT	p.G1064G		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1064					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)			TTCCTGAATTGCCTGGTGACA	0.463																																					p.G1064G	Ovarian(126;889 1733 2942 10745 11605)												.	AFF4	120	0			c.C3192T						.						79	80	80					5																	132219204		2203	4300	6503	SO:0001819	synonymous_variant	27125	exon20			TGAATTGCCTGGT	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.3192C>T	5.37:g.132219204G>A		27	0		36	4	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																			.		0.463	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		A	132219204	G	A	132219204	2	1	23	1	0	0	0	0	0	0	0	1	359	1306	46	3		3	AFF4	5	132219204	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	20064162	132219204	48696056	44	3060											
TRPC7	57113	hgsc.bcm.edu	37	5	135561813	135561813	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:135561813C>A	ENST00000513104.1	-	9	2453	c.2171G>T	c.(2170-2172)aGa>aTa	p.R724I	TRPC7_ENST00000355180.3_Missense_Mutation_p.R663I|TRPC7_ENST00000426057.2_Missense_Mutation_p.R608I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	724					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)			CATCTTGATTCTCATTATGAG	0.388																																					p.R724I		.											TRPC7,NS,carcinoma,0,2	TRPC7	0	0			c.G2171T						.						73	67	69					5																	135561813		1868	4096	5964	SO:0001583	missense	57113	exon9			TTGATTCTCATTA	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.2171G>T	5.37:g.135561813C>A	ENSP00000426070:p.Arg724Ile	33	0		47	2	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007076|2.007076	0.35415|0.35415	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|D;D;D	.|0.82255	.|-1.59;-1.59;-1.59	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80849|0.80849	0.4702|0.4702	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B;B;B	.|0.22541	.|0.071;0.061;0.01;0.006	.|B;B;B;B	.|0.26864	.|0.065;0.074;0.035;0.025	T|T	0.74962|0.74962	-0.3485|-0.3485	5|10	.|0.22706	.|T	.|0.39	-14.9511|-14.9511	11.8714|11.8714	0.52523|0.52523	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	.|608;663;669;724	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	D|I	607;662;668|663;608;724;724	.|ENSP00000347312:R663I;ENSP00000441628:R608I;ENSP00000426070:R724I	.|ENSP00000265193:R724I	E|R	-|-	3|2	2|0	TRPC7|TRPC7	135589712|135589712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.189000|3.189000	0.50965|0.50965	2.590000|2.590000	0.87494|0.87494	0.591000|0.591000	0.81541|0.81541	GAG|AGA	.		0.388	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135561813	C	A	135561813	3	1	23	1	0	0	0	0	1	0	0	0	16632	913	32	3	433	3	TRPC7	5	135561813	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	3342609	135561813	45353447	45	3061											
FAM71B	153745	hgsc.bcm.edu	37	5	156590510	156590510	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:156590510C>A	ENST00000302938.4	-	2	861	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	256	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGCAGCCCCTGGAGTGCTC	0.582																																					p.G256W		.											FAM71B,colon,carcinoma,0,1	FAM71B	0	0			c.G766T						.						89	77	81					5																	156590510		2203	4300	6503	SO:0001583	missense	153745	exon2			CAGCCCCTGGAGT		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.766G>T	5.37:g.156590510C>A	ENSP00000305596:p.Gly256Trp	24	0		29	2	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058990	0.36373	.	.	ENSG00000170613	ENST00000302938	T	0.03982	3.74	3.8	-0.169	0.13339	.	0.834058	0.09777	N	0.757166	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.51791	0.948	B	0.39185	0.293	T	0.44421	-0.9329	10	0.51188	T	0.08	-3.6394	4.4637	0.11678	0.0:0.387:0.3864:0.2266	.	256	Q8TC56	FA71B_HUMAN	W	256	ENSP00000305596:G256W	ENSP00000305596:G256W	G	-	1	0	FAM71B	156523088	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.012000	0.12699	-0.056000	0.13221	0.543000	0.68304	GGG	.		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156590510	C	A	156590510	3	1	23	1	0	0	0	0	1	0	0	0	5630	681	24	3	1055	3	FAM71B	5	156590510	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	21028697	156590510	24324750	46	3062											
BPHL	670	hgsc.bcm.edu;bcgsc.ca	37	6	3127475	3127475	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:3127475G>T	ENST00000380379.5	+	3	260		c.e3-1		BPHL_ENST00000380375.3_Splice_Site|BPHL_ENST00000434640.1_Splice_Site|BPHL_ENST00000380368.2_Splice_Site	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)						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)				GCTGTTTTTAGGAAGTGGAGA	0.448																																					.		.											.	.	.	0			c.212-1G>T						.						104	101	102					6																	3127475		2203	4300	6503	SO:0001630	splice_region_variant	670	exon3			TTTTTAGGAAGTG	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.212-1G>T	6.37:g.3127475G>T		35	0		48	4	NM_004332	Q00306|Q13855|Q3KP51	Splice_Site	SNP	ENST00000380379.5	37	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114082	0.77210	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6069	0.95585	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPHL	3072474	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.873000	0.92357	2.706000	0.92434	0.655000	0.94253	.	.		0.448	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5		Intron	T	3127475	G	T	3127475	5	4	23	1	0	0	0	0	0	0	1	0	1493	1014	35	3	221	3	BPHL	6	3127475	Splice_Site	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		3127475	167987592	47	3063											
TAP1	6890	hgsc.bcm.edu	37	6	32815404	32815404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:32815404C>A	ENST00000354258.4	-	9	2130	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.E396*|PSMB8_ENST00000374881.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	657	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.E657*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCAATATTTTCTTGAAGACTT	0.473																																					p.E657X		.											TAP1,rectum,carcinoma,0,1	TAP1	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1969T						.						103	99	100					6																	32815404		2203	4300	6503	SO:0001587	stop_gained	6890	exon9			TATTTTCTTGAAG		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1969G>T	6.37:g.32815404C>A	ENSP00000346206:p.Glu657*	21	0		17	2	NM_000593	Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	42	9.367215	0.99150	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.315	15.3873	0.74711	0.0:1.0:0.0:0.0	.	.	.	.	X	657;396	.	ENSP00000346206:E657X	E	-	1	0	TAP1	32923382	0.995000	0.38212	0.964000	0.40570	0.973000	0.67179	3.384000	0.52478	2.706000	0.92434	0.643000	0.83706	GAA	.		0.473	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		A	32815404	C	A	32815404	4	1	23	1	0	0	0	0	0	1	0	0	15597	922	32	3	469	3	TAP1	6	32815404	Nonsense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	29687929	32815404	138299663	48	3064											
VPS52	6293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	33236870	33236870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:33236870G>A	ENST00000445902.2	-	6	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000474973.1_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					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						TTTCGAAGTCGAATGTTCATG	0.537																																					p.R157X		.											.	.	.	0			c.C469T						.						228	217	221					6																	33236870		1511	2709	4220	SO:0001587	stop_gained	6293	exon6			GAAGTCGAATGTT	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.469C>T	6.37:g.33236870G>A	ENSP00000409952:p.Arg157*	39	0		39	13	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	38	6.959857	0.97964	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	5.0	0.66597	.	0.056566	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-11.008	11.1191	0.48277	0.0:0.0:0.8157:0.1843	.	.	.	.	X	157;135;32	.	ENSP00000414785:R135X	R	-	1	2	VPS52	33344848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.760000	0.38430	2.776000	0.95493	0.573000	0.79308	CGA	.		0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		A	33236870	G	A	33236870	4	1	23	1	0	0	0	0	0	1	0	0	17263	1066	37	1	1762	1	VPS52	6	33236870	Nonsense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	421466	33236870	137878197	49	3065											
PPARD	5467	hgsc.bcm.edu	37	6	35392430	35392430	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:35392430C>A	ENST00000311565.4	+	8	1301	c.952C>A	c.(952-954)Cgc>Agc	p.R318S	PPARD_ENST00000448077.2_Missense_Mutation_p.R279S|PPARD_ENST00000444397.1_Missense_Mutation_p.R318S|PPARD_ENST00000540939.1_Missense_Mutation_p.R215S|PPARD_ENST00000337400.2_Missense_Mutation_p.R318S|PPARD_ENST00000360694.3_Missense_Mutation_p.R318S|PPARD_ENST00000418635.2_Missense_Mutation_p.R220S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	318	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|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)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|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)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGAGTTCCTGCGCAGCCTCCG	0.547																																					p.R318S		.											PPARD,caecum,carcinoma,0,1	PPARD	0	0			c.C952A						.						65	59	61					6																	35392430		2203	4300	6503	SO:0001583	missense	5467	exon8			TTCCTGCGCAGCC	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.952C>A	6.37:g.35392430C>A	ENSP00000310928:p.Arg318Ser	27	0		18	2	NM_001171818	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224492	0.79576	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.047832	0.85682	D	0.000000	D	0.97328	0.9126	L	0.52759	1.655	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.994	D;D;D;P	0.91635	0.971;0.999;0.999;0.884	D	0.97660	1.0160	10	0.66056	D	0.02	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	220;279;318;318	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	S	279;318;220;318;318;318;215	ENSP00000414372:R279S;ENSP00000353916:R318S;ENSP00000413314:R220S;ENSP00000410837:R318S;ENSP00000310928:R318S;ENSP00000337063:R318S;ENSP00000443759:R215S	ENSP00000310928:R318S	R	+	1	0	PPARD	35500408	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.790000	0.55461	2.711000	0.92665	0.655000	0.94253	CGC	.		0.547	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		A	35392430	C	A	35392430	3	1	23	1	0	0	0	0	1	0	0	0	12337	768	27	2	987	2	PPARD	6	35392430	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	2155560	35392430	135722637	50	3066											
TTBK1	84630	hgsc.bcm.edu	37	6	43222295	43222295	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:43222295C>T	ENST00000259750.4	+	6	565	c.482C>T	c.(481-483)gCc>gTc	p.A161V	TTBK1_ENST00000304139.5_Missense_Mutation_p.A110V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			TCAAACTTTGCCATGGGCAGG	0.632																																					p.A161V		.											TTBK1,NS,carcinoma,0,1	TTBK1	0	0			c.C482T						.						51	51	51					6																	43222295		2203	4300	6503	SO:0001583	missense	84630	exon6			ACTTTGCCATGGG	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.482C>T	6.37:g.43222295C>T	ENSP00000259750:p.Ala161Val	49	0		24	2	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822434	0.71028	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.63580	-0.05	5.2	4.33	0.51752	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171092	0.51477	D	0.000099	T	0.60483	0.2272	L	0.33245	0.995	0.50813	D	0.999897	D	0.71674	0.998	D	0.70487	0.969	T	0.67130	-0.5748	10	0.66056	D	0.02	.	14.0992	0.65044	0.1518:0.8482:0.0:0.0	.	161	Q5TCY1	TTBK1_HUMAN	V	110;161;110	ENSP00000259750:A161V	ENSP00000259750:A161V	A	+	2	0	TTBK1	43330273	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.423000	0.80229	1.182000	0.42928	0.655000	0.94253	GCC	.		0.632	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43222295	C	T	43222295	3	4	23	1	0	0	0	0	1	0	0	0	16725	739	26	3	500	3	TTBK1	6	43222295	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	7829865	43222295	127892772	51	3067											
FOXK1	221937	bcgsc.ca	37	7	4796694	4796694	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:4796694G>T	ENST00000328914.4	+	5	1120	c.1120G>T	c.(1120-1122)Ggg>Tgg	p.G374W	FOXK1_ENST00000446823.1_Missense_Mutation_p.G211W	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)		GGAGGAGCCTGGGAAGGGGTC	0.547																																					p.G374W													KIAA0415_ENST00000450194,NS,carcinoma,-2,2	FOXK1	64	0			c.G1120T						.						76	83	81					7																	4796694		2203	4300	6503	SO:0001583	missense	221937	exon5			GAGCCTGGGAAGG	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.1120G>T	7.37:g.4796694G>T	ENSP00000328720:p.Gly374Trp	91	0		76	4	NM_001037165		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003354	0.93287	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.98633	-5.04;-5.04	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97905	1.0305	10	0.87932	D	0	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	374;211	P85037;P85037-2	FOXK1_HUMAN;.	W	211;138;374;257	ENSP00000394442:G211W;ENSP00000328720:G374W	ENSP00000328720:G374W	G	+	1	0	FOXK1	4763220	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.826000	0.99387	2.735000	0.93741	0.655000	0.94253	GGG	.		0.547	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			T	4796694	G	T	4796694	3	4	23	1	0	0	0	0	1	0	0	0	6038	1348	47	3	1138	3	FOXK1	7	4796694	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		4796694	154341969	52	3068											
OGDH	4967	hgsc.bcm.edu	37	7	44737336	44737336	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:44737336G>A	ENST00000222673.5	+	17	2355	c.2313G>A	c.(2311-2313)cgG>cgA	p.R771R	OGDH_ENST00000543843.1_Silent_p.R722R|OGDH_ENST00000439616.2_Silent_p.R621R|OGDH_ENST00000449767.1_Silent_p.R767R|OGDH_ENST00000444676.1_Silent_p.R786R|OGDH_ENST00000447398.1_Silent_p.R782R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	771					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)	AGTGGGTGCGGCAGAATGGCA	0.602																																					p.R771R		.											OGDH,colon,carcinoma,0,1	OGDH	0	0			c.G2313A						.						111	97	102					7																	44737336		2203	4300	6503	SO:0001819	synonymous_variant	4967	exon17			GGTGCGGCAGAAT	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.2313G>A	7.37:g.44737336G>A		23	0		18	2	NM_002541	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																			.		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44737336	G	A	44737336	2	1	23	1	0	0	0	0	0	0	0	1	10878	1190	42	3		3	OGDH	7	44737336	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	39940642	44737336	114401327	53	3069											
WBSCR22	114049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	73098119	73098119	+	Missense_Mutation	SNP	G	G	C	rs148529785		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:73098119G>C	ENST00000265758.2	+	2	129	c.71G>C	c.(70-72)cGg>cCg	p.R24P	WBSCR22_ENST00000423497.1_Missense_Mutation_p.R24P|WBSCR22_ENST00000423166.2_Missense_Mutation_p.G15R|WBSCR22_ENST00000464615.1_Intron|DNAJC30_ENST00000395176.2_5'Flank	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	24					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACAGAAGCCCGGAAATACGTT	0.592																																					p.R24P		.											.	.	.	0			c.G71C						.						72	83	79					7																	73098119		2203	4300	6503	SO:0001583	missense	114049	exon2			AAGCCCGGAAATA	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"metastasis-related methyltransferase 1"	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.71G>C	7.37:g.73098119G>C	ENSP00000265758:p.Arg24Pro	86	0		85	24	NM_001202560	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	CCDS5557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.994441|3.994441	0.74703|0.74703	.|.	.|.	ENSG00000071462|ENSG00000071462	ENST00000423166|ENST00000265758;ENST00000423497	.|T;T	.|0.68025	.|-0.3;-0.3	5.3|5.3	2.52|2.52	0.30459|0.30459	.|.	.|0.185131	.|0.44902	.|D	.|0.000407	T|T	0.76723|0.76723	0.4027|0.4027	M|M	0.86028|0.86028	2.79|2.79	0.26101|0.26101	N|N	0.980828|0.980828	.|D;D	.|0.64830	.|0.994;0.966	.|P;P	.|0.58454	.|0.839;0.749	T|T	0.68265|0.68265	-0.5454|-0.5454	6|10	0.87932|0.66056	D|D	0|0.02	-0.1329|-0.1329	7.0123|7.0123	0.24869|0.24869	0.2784:0.0:0.7216:0.0|0.2784:0.0:0.7216:0.0	.|.	.|24;24	.|C9K060;O43709	.|.;WBS22_HUMAN	R|P	15|24	.|ENSP00000265758:R24P;ENSP00000401191:R24P	ENSP00000397056:G15R|ENSP00000265758:R24P	G|R	+|+	1|2	0|0	WBSCR22|WBSCR22	72736055|72736055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.842000|0.842000	0.47809|0.47809	1.748000|1.748000	0.38308|0.38308	0.377000|0.377000	0.24735|0.24735	0.563000|0.563000	0.77884|0.77884	GGA|CGG	.		0.592	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			C	73098119	G	C	73098119	3	2	23	1	0	0	0	0	1	0	0	0	17314	1116	39	5	77	5	WBSCR22	7	73098119	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	28360783	73098119	86040544	54	3070											
LRRC4	64101	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	127669004	127669004	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:127669004G>T	ENST00000249363.3	-	2	1947	c.1690C>A	c.(1690-1692)Cgg>Agg	p.R564R	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	564					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)		TCAACAGTCCGGGCGGCTGTG	0.562																																					p.R564R		.											.	.	.	0			c.C1690A						.						72	57	62					7																	127669004		2200	4300	6500	SO:0001819	synonymous_variant	64101	exon2			CAGTCCGGGCGGC	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.1690C>A	7.37:g.127669004G>T		28	0		34	4	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	CCDS5799.1																																																																																			.		0.562	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		T	127669004	G	T	127669004	2	4	23	1	0	0	0	0	0	0	0	1	9032	1115	39	2		2	LRRC4	7	127669004	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	54570885	127669004	31469659	55	3071											
MGAM	8972	hgsc.bcm.edu	37	7	141719015	141719015	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:141719015G>T	ENST00000549489.2	+	4	439	c.344G>T	c.(343-345)cGt>cTt	p.R115L	MGAM_ENST00000475668.2_Missense_Mutation_p.R115L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	115	P-type 1. {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.R115H(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGACCAACGTGGCTGTTGC	0.428																																					p.R115L		.											MGAM_ENST00000549489,colon,carcinoma,0,3	MGAM_ENST00000549489	0	3	Substitution - Missense(3)	large_intestine(3)	c.G344T						.						124	125	125					7																	141719015		1906	4128	6034	SO:0001583	missense	8972	exon4			ACCAACGTGGCTG	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.344G>T	7.37:g.141719015G>T	ENSP00000447378:p.Arg115Leu	38	0		41	2	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615780	0.87359	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;T;T	0.58940	0.3;0.3;0.3	4.85	4.85	0.62838	P-type trefoil, conserved site (1);Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.000000	0.48286	D	0.000198	T	0.72558	0.3475	M	0.71871	2.18	0.45791	D	0.998678	D	0.67145	0.996	P	0.61940	0.896	T	0.76011	-0.3115	10	0.87932	D	0	.	15.847	0.78901	0.0:0.0:1.0:0.0	.	115	O43451	MGA_HUMAN	L	115	ENSP00000419372:R115L;ENSP00000447378:R115L;ENSP00000417103:R115L	ENSP00000373973:R115L	R	+	2	0	MGAM	141365484	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.635000	0.91006	2.682000	0.91365	0.514000	0.50259	CGT	.		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141719015	G	T	141719015	3	4	23	1	0	0	0	0	1	0	0	0	9579	1145	40	2	354	2	MGAM	7	141719015	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	14050011	141719015	17419648	56	3072											
RP1	6101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	55537426	55537426	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:55537426C>T	ENST00000220676.1	+	4	1132	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	328					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)			TTAATCAAGACGGCACTATGA	0.323																																					p.D328D	Colon(91;1014 1389 7634 14542 40420)	.											.	.	.	0			c.C984T						.						64	65	65					8																	55537426		2203	4299	6502	SO:0001819	synonymous_variant	6101	exon4			TCAAGACGGCACT	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.984C>T	8.37:g.55537426C>T		51	0		39	5	NM_006269		Silent	SNP	ENST00000220676.1	37	CCDS6160.1																																																																																			.		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55537426	C	T	55537426	2	4	23	1	0	0	0	0	0	0	0	1	13577	535	19	1		1	RP1	8	55537426	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		55537426	90826596	57	3073											
SLCO5A1	81796	hgsc.bcm.edu	37	8	70744391	70744391	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:70744391C>T	ENST00000260126.4	-	2	1224	c.518G>A	c.(517-519)tGc>tAc	p.C173Y	RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C173Y|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C173Y	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	173						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)			GATGTCAAAGCAGCTGACCAG	0.612																																					p.C173Y		.											SLCO5A1,middle_lobe,carcinoma,0,1	SLCO5A1	0	0			c.G518A						.						51	57	55					8																	70744391		2203	4300	6503	SO:0001583	missense	81796	exon2			TCAAAGCAGCTGA	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.518G>A	8.37:g.70744391C>T	ENSP00000260126:p.Cys173Tyr	63	0		41	2	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634910	0.87760	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.58652	0.32;0.32;0.32	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.997	D;D;D;D	0.80764	0.981;0.994;0.982;0.953	T	0.65294	-0.6203	10	0.15066	T	0.55	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	173;173;173;173	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Y	173	ENSP00000260126:C173Y;ENSP00000434422:C173Y;ENSP00000431611:C173Y	ENSP00000260126:C173Y	C	-	2	0	SLCO5A1	70906945	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.814000	0.86154	2.704000	0.92352	0.561000	0.74099	TGC	.		0.612	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		T	70744391	C	T	70744391	3	4	23	1	0	0	0	0	1	0	0	0	14776	710	25	3	2064	3	SLCO5A1	8	70744391	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	15206965	70744391	75619631	58	3074											
SNX31	169166	hgsc.bcm.edu	37	8	101601166	101601166	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:101601166G>T	ENST00000311812.2	-	11	1170	c.1020C>A	c.(1018-1020)aaC>aaA	p.N340K	SNX31_ENST00000428383.2_Missense_Mutation_p.N241K|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	340					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)			CTAAGTTCTGGTTGAGAGTTC	0.418																																					p.N340K		.											SNX31,NS,carcinoma,0,1	SNX31	0	0			c.C1020A						.						111	104	106					8																	101601166		2203	4300	6503	SO:0001583	missense	169166	exon11			GTTCTGGTTGAGA		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.1020C>A	8.37:g.101601166G>T	ENSP00000312368:p.Asn340Lys	63	0		40	2	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047335	0.55110	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22539	2.3;1.95	5.79	4.02	0.46733	.	0.229286	0.37857	N	0.001908	T	0.18045	0.0433	L	0.54323	1.7	0.40829	D	0.983571	B;P	0.39665	0.372;0.682	B;B	0.32980	0.114;0.156	T	0.03875	-1.0996	10	0.27785	T	0.31	-16.7112	11.496	0.50408	0.1468:0.0:0.8532:0.0	.	241;340	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	K	340;241	ENSP00000312368:N340K;ENSP00000405024:N241K	ENSP00000312368:N340K	N	-	3	2	SNX31	101670342	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.748000	0.47483	0.799000	0.34018	0.655000	0.94253	AAC	.		0.418	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		T	101601166	G	T	101601166	3	4	23	1	0	0	0	0	1	0	0	0	14946	1252	44	3	318	3	SNX31	8	101601166	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	30856775	101601166	44762856	59	3075											
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	104897649	104897649	+	Silent	SNP	T	T	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:104897649T>G	ENST00000436393.2	+	2	397	c.156T>G	c.(154-156)gcT>gcG	p.A52A	RIMS2_ENST00000507740.1_Silent_p.A82A|RIMS2_ENST00000406091.3_Silent_p.A274A|RIMS2_ENST00000262231.10_Silent_p.A82A|RIMS2_ENST00000522174.1_3'UTR			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	305	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)			CAGATTATGCTGATAGGCGAT	0.398										HNSCC(12;0.0054)																											p.A274A		.											.	.	.	0			c.T822G						.						106	97	100					8																	104897649		1890	4117	6007	SO:0001819	synonymous_variant	9699	exon4			TTATGCTGATAGG	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.156T>G	8.37:g.104897649T>G		40	0		30	8	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																				.		0.398	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		G	104897649	T	G	104897649	2	3	23	1	0	0	0	0	0	0	0	1	13413	1567	55	4		4	RIMS2	8	104897649	Silent	SNP	T	TCGA-W5-AA38-01A-11D-A417-09	3296483	104897649	41466373	60	3076											
PKN3	29941	ucsc.edu;bcgsc.ca	37	9	131475475	131475475	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr9:131475475C>T	ENST00000291906.4	+	7	1373	c.980C>T	c.(979-981)gCc>gTc	p.A327V		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	327					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						GGCGAGCTTGCCAGTGAGTAG	0.711																																					p.A327V													.	PKN3	62	0			c.C980T						.						28	32	30					9																	131475475		2203	4300	6503	SO:0001583	missense	29941	exon7			AGCTTGCCAGTGA	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.980C>T	9.37:g.131475475C>T	ENSP00000291906:p.Ala327Val	40	0		24	4	NM_013355	Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614720	0.28712	.	.	ENSG00000160447	ENST00000291906	T	0.20463	2.07	5.24	3.37	0.38596	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.16385	0.0394	L	0.47716	1.5	0.40342	D	0.979046	B	0.32573	0.376	B	0.26770	0.073	T	0.04840	-1.0923	9	0.56958	D	0.05	.	7.3602	0.26742	0.0:0.7399:0.1684:0.0916	.	327	Q6P5Z2	PKN3_HUMAN	V	327	ENSP00000291906:A327V	ENSP00000291906:A327V	A	+	2	0	PKN3	130515296	0.690000	0.27699	0.984000	0.44739	0.243000	0.25628	2.496000	0.45346	0.570000	0.29347	-0.448000	0.05591	GCC	.		0.711	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		T	131475475	C	T	131475475	3	4	23	1	0	0	0	0	1	0	0	0	12020	739	26	3	1006	3	PKN3	9	131475475	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		131475475	9737956	61	3077											
MPP7	143098	bcgsc.ca	37	10	28413008	28413008	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:28413008G>A	ENST00000375732.1	-	8	826	c.567C>T	c.(565-567)aaC>aaT	p.N189N	MPP7_ENST00000337532.5_Silent_p.N189N|MPP7_ENST00000375719.3_Silent_p.N189N|MPP7_ENST00000540098.1_Silent_p.N189N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_Silent_p.N64N			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	189	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						CTGGTATCCCGTTGACTTCCC	0.358																																					p.N189N													.	MPP7	60	0			c.C567T						.						108	107	107					10																	28413008		2203	4300	6503	SO:0001819	synonymous_variant	143098	exon10			TATCCCGTTGACT	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.567C>T	10.37:g.28413008G>A		53	0		59	4	NM_173496	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	CCDS7158.1																																																																																			.		0.358	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		A	28413008	G	A	28413008	2	1	23	1	0	0	0	0	0	0	0	1	9777	1136	40	1		1	MPP7	10	28413008	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		28413008	107121739	62	3078											
CSGALNACT2	55454	hgsc.bcm.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs79064394		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	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		.											CSGALNACT2,NS,carcinoma,0,5	CSGALNACT2	0	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T						.						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	57	0		78	4	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	.		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43659419	G	T	43659419	3	4	23	1	0	0	0	0	1	0	0	0	3948	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	15246411	43659419	91875328	63	3079											
NCOA4	8031	hgsc.bcm.edu;bcgsc.ca	37	10	51580885	51580885	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:51580885G>T	ENST00000443446.1	+	4	517	c.288G>T	c.(286-288)ttG>ttT	p.L96F	NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000374087.4_Missense_Mutation_p.L96F|NCOA4_ENST00000438493.1_Missense_Mutation_p.L112F|NCOA4_ENST00000452682.1_Missense_Mutation_p.L112F|NCOA4_ENST00000344348.6_Missense_Mutation_p.L96F|NCOA4_ENST00000374082.1_Missense_Mutation_p.L96F|NCOA4_ENST00000414907.2_Intron	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	96					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTAGTTATTGGGCCAGTTCA	0.398			T	RET	papillary thyroid																																p.L112F		.		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	.	.	0			c.G336T						.						134	130	131					10																	51580885		2203	4300	6503	SO:0001583	missense	8031	exon5			GTTATTGGGCCAG	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.288G>T	10.37:g.51580885G>T	ENSP00000390713:p.Leu96Phe	69	0		77	4	NM_001145261	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384302	0.61845	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.51	5.51	0.81932	.	0.275088	0.32120	N	0.006554	T	0.46464	0.1394	L	0.41236	1.265	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.967	P;D;P	0.63877	0.885;0.919;0.771	T	0.34403	-0.9830	10	0.56958	D	0.05	-2.9921	17.6674	0.88207	0.0:0.0:1.0:0.0	.	112;112;96	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	F	112;112;96;96;96;96;96	ENSP00000405146:L112F;ENSP00000395465:L112F;ENSP00000363200:L96F;ENSP00000344552:L96F;ENSP00000363195:L96F;ENSP00000390713:L96F	ENSP00000332421:L96F	L	+	3	2	NCOA4	51250891	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.549000	0.53681	2.608000	0.88229	0.461000	0.40582	TTG	.		0.398	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		T	51580885	G	T	51580885	3	4	23	1	0	0	0	0	1	0	0	0	10270	1339	47	3	350	3	NCOA4	10	51580885	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	7921466	51580885	83953862	64	3080											
CTNNA3	29119	hgsc.bcm.edu	37	10	69281681	69281681	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:69281681G>T	ENST00000433211.2	-	5	672	c.498C>A	c.(496-498)aaC>aaA	p.N166K	CTNNA3_ENST00000545309.1_Missense_Mutation_p.N166K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.N166K	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						GGTCAGATTTGTTGGCAACAT	0.393																																					p.N166K		.											.	.	.	0			c.C498A						.						104	102	103					10																	69281681		2203	4300	6503	SO:0001583	missense	29119	exon5			AGATTTGTTGGCA	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.498C>A	10.37:g.69281681G>T	ENSP00000389714:p.Asn166Lys	57	0		45	3	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885073	0.33255	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.19	3.27	0.37495	.	0.103397	0.42172	D	0.000752	T	0.40272	0.1110	L	0.46157	1.445	0.31409	N	0.675758	B;B;P;B	0.35821	0.099;0.284;0.523;0.336	B;B;B;B	0.38985	0.078;0.078;0.287;0.085	T	0.51694	-0.8673	10	0.72032	D	0.01	-11.2261	6.6107	0.22749	0.2234:0.0:0.7766:0.0	.	166;166;166;166	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	K	166	ENSP00000389714:N166K;ENSP00000362849:N166K;ENSP00000441444:N166K;ENSP00000330570:N166K	ENSP00000330570:N166K	N	-	3	2	CTNNA3	68951687	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.779000	0.38624	1.127000	0.42034	0.467000	0.42956	AAC	.		0.393	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	69281681	G	T	69281681	3	4	23	1	0	0	0	0	1	0	0	0	4023	1368	48	3	2245	3	CTNNA3	10	69281681	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	17700796	69281681	66253066	65	3081											
NPM3	10360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	103542240	103542240	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:103542240G>A	ENST00000370110.5	-	3	341	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	107					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CTCACCATGGGTTGGCAGGAC	0.577																																					p.P107S		.											.	.	.	0			c.C319T						.						137	121	126					10																	103542240		2203	4300	6503	SO:0001583	missense	10360	exon3			CCATGGGTTGGCA	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.319C>T	10.37:g.103542240G>A	ENSP00000359128:p.Pro107Ser	22	0		12	7	NM_006993	Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220163	0.95139	.	.	ENSG00000107833	ENST00000370110	T	0.52754	0.65	5.45	5.45	0.79879	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.66689	-0.5860	10	0.62326	D	0.03	-27.2961	17.4687	0.87639	0.0:0.0:1.0:0.0	.	107	O75607	NPM3_HUMAN	S	107	ENSP00000359128:P107S	ENSP00000359128:P107S	P	-	1	0	NPM3	103532230	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	8.433000	0.90291	2.556000	0.86216	0.650000	0.86243	CCC	.		0.577	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		A	103542240	G	A	103542240	3	1	23	1	0	0	0	0	1	0	0	0	10628	1261	44	3	229	3	NPM3	10	103542240	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	34260559	103542240	31992507	66	3082											
PSD	5662	hgsc.bcm.edu	37	10	104173619	104173619	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:104173619G>A	ENST00000020673.5	-	5	1986	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	PSD_ENST00000406432.1_Missense_Mutation_p.A487V|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	487	Poly-Glu.				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)	p.A272V(1)|p.A487V(1)		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)		TCTGGCCTCTGCCTCCTCCTC	0.652																																					p.A487V		.											PSD_ENST00000020673,NS,carcinoma,0,2	PSD_ENST00000020673	0	2	Substitution - Missense(2)	ovary(2)	c.C1460T						.						29	33	32					10																	104173619		2203	4300	6503	SO:0001583	missense	5662	exon6			GCCTCTGCCTCCT	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.1460C>T	10.37:g.104173619G>A	ENSP00000020673:p.Ala487Val	30	0		31	2	NM_001270965	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679983	0.29783	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.18174	2.23;2.23	4.65	1.9	0.25705	.	0.725124	0.11916	N	0.517188	T	0.06142	0.0159	N	0.03608	-0.345	0.20563	N	0.999888	B	0.13594	0.008	B	0.12156	0.007	T	0.26121	-1.0112	10	0.39692	T	0.17	.	2.2854	0.04124	0.1591:0.1315:0.472:0.2374	.	487	A5PKW4	PSD1_HUMAN	V	487;390;487	ENSP00000020673:A487V;ENSP00000384830:A487V	ENSP00000020673:A487V	A	-	2	0	PSD	104163609	0.789000	0.28775	0.962000	0.40283	0.974000	0.67602	0.874000	0.28065	2.154000	0.67381	0.456000	0.33151	GCA	.		0.652	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			A	104173619	G	A	104173619	3	1	23	1	0	0	0	0	1	0	0	0	12688	1319	46	3	1666	3	PSD	10	104173619	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	631379	104173619	31361128	67	3083											
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	106959842	106959842	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:106959842G>A	ENST00000369701.3	+	15	2322	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	699					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)		TTGCACCAAGGAGGACTATCA	0.532																																					p.E699K	NSCLC(116;1497 1690 7108 13108 14106)	.											.	.	.	0			c.G2095A						.						124	113	117					10																	106959842		2203	4300	6503	SO:0001583	missense	22986	exon15			ACCAAGGAGGACT	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.2095G>A	10.37:g.106959842G>A	ENSP00000358715:p.Glu699Lys	54	0		39	11	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869481	0.72065	.	.	ENSG00000156395	ENST00000369701	T	0.29397	1.57	6.07	6.07	0.98685	VPS10 (1);	0.179150	0.49916	D	0.000124	T	0.22126	0.0533	L	0.28274	0.84	0.40529	D	0.980913	B	0.33549	0.417	B	0.32149	0.141	T	0.05852	-1.0860	9	.	.	.	.	13.793	0.63152	0.0696:0.0:0.9304:0.0	.	699	Q9UPU3	SORC3_HUMAN	K	699	ENSP00000358715:E699K	.	E	+	1	0	SORCS3	106949832	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.261000	0.72509	2.890000	0.99128	0.650000	0.86243	GAG	.		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		A	106959842	G	A	106959842	3	1	23	1	0	0	0	0	1	0	0	0	14977	1175	41	3	2153	3	SORCS3	10	106959842	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	2786223	106959842	28574905	68	3084											
CLRN3	119467	hgsc.bcm.edu	37	10	129676685	129676685	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:129676685C>T	ENST00000368671.3	-	3	572		c.e3-1			NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)		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)				ACGAAGGATGCTGAAAGGAAG	0.418																																					.		.											CLRN3,NS,carcinoma,0,2	CLRN3	0	1	Unknown(1)	endometrium(1)	c.410-1G>A						.						97	74	82					10																	129676685		2203	4300	6503	SO:0001630	splice_region_variant	119467	exon4			AGGATGCTGAAAG	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.410-1G>A	10.37:g.129676685C>T		39	0		46	3	NM_152311	Q6MZX8	Splice_Site	SNP	ENST00000368671.3	37	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388424	0.42308	.	.	ENSG00000180745	ENST00000368671	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1318	0.81446	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLRN3	129566675	0.998000	0.40836	0.730000	0.30809	0.004000	0.04260	4.566000	0.60843	2.324000	0.78689	0.650000	0.86243	.	.		0.418	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311	Intron	T	129676685	C	T	129676685	5	4	23	1	0	0	0	0	0	0	1	0	3566	811	28	3	275	3	CLRN3	10	129676685	Splice_Site	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	22716843	129676685	5858062	69	3085											
FIBIN	387758	hgsc.bcm.edu	37	11	27016617	27016617	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:27016617G>T	ENST00000318627.2	+	1	990	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	182						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)		p.G182W(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CATCTCTGTGGGGCTCAGGGA	0.552																																					p.G182W		.											FIBIN,NS,carcinoma,0,1	FIBIN	0	1	Substitution - Missense(1)	endometrium(1)	c.G544T						.						66	72	70					11																	27016617		2202	4299	6501	SO:0001583	missense	387758	exon1			TCTGTGGGGCTCA	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.544G>T	11.37:g.27016617G>T	ENSP00000321962:p.Gly182Trp	29	0		26	3	NM_203371		Missense_Mutation	SNP	ENST00000318627.2	37	CCDS7861.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390251	0.82902	.	.	ENSG00000176971	ENST00000318627	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70726	-0.4793	9	0.87932	D	0	-8.2407	18.4119	0.90554	0.0:0.0:1.0:0.0	.	182	Q8TAL6	FIBIN_HUMAN	W	182	.	ENSP00000321962:G182W	G	+	1	0	FIBIN	26973193	1.000000	0.71417	0.913000	0.36048	0.946000	0.59487	9.366000	0.97143	2.705000	0.92388	0.650000	0.86243	GGG	.		0.552	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		T	27016617	G	T	27016617	3	4	23	1	0	0	0	0	1	0	0	0	5907	1232	43	3	546	3	FIBIN	11	27016617	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		27016617	107989899	70	3086											
OR5AN1	390195	hgsc.bcm.edu	37	11	59132147	59132147	+	Silent	SNP	C	C	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:59132147C>G	ENST00000313940.2	+	1	263	c.216C>G	c.(214-216)gtC>gtG	p.V72V		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	72						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						TCATAGATGTCTGCTATATCA	0.423																																					p.V72V		.											OR5AN1,NS,carcinoma,0,1	OR5AN1	0	0			c.C216G						.						186	177	180					11																	59132147		2201	4295	6496	SO:0001819	synonymous_variant	390195	exon1			AGATGTCTGCTAT	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.216C>G	11.37:g.59132147C>G		34	0		35	2	NM_001004729	B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	CCDS31559.1																																																																																			.		0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		G	59132147	C	G	59132147	2	3	23	1	0	0	0	0	0	0	0	1	11182	900	32	5		5	OR5AN1	11	59132147	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	32115530	59132147	75874369	71	3087											
TRPT1	83707	hgsc.bcm.edu	37	11	63991664	63991664	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:63991664C>T	ENST00000317459.6	-	7	746	c.578G>A	c.(577-579)cGc>cAc	p.R193H	TRPT1_ENST00000546133.1_Intron|TRPT1_ENST00000546089.1_Intron|TRPT1_ENST00000394546.2_Missense_Mutation_p.R195H|TRPT1_ENST00000394547.3_Missense_Mutation_p.R144H|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000541278.1_Intron|TRPT1_ENST00000540472.1_5'Flank|NUDT22_ENST00000441250.2_5'Flank			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	193					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)	p.R193P(1)		lung(2)|skin(1)	3						ATTGGCAGAGCGGAAGAAGGG	0.567																																					p.R195H		.											TRPT1,NS,carcinoma,0,1	TRPT1	0	1	Substitution - Missense(1)	lung(1)	c.G584A						.						84	82	83					11																	63991664		2201	4297	6498	SO:0001583	missense	83707	exon7			GCAGAGCGGAAGA		CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"tRNA splicing 2' phosphotransferase 1"	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.578G>A	11.37:g.63991664C>T	ENSP00000314073:p.Arg193His	6	0		16	2	NM_001160389	A8MU17|A8MYC9|F5H2B2|Q9BSB9	Missense_Mutation	SNP	ENST00000317459.6	37	CCDS31595.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935664	0.52972	.	.	ENSG00000149743	ENST00000394547;ENST00000394546;ENST00000317459	T;T;T	0.46819	0.86;0.86;0.86	5.1	3.09	0.35607	.	0.324362	0.36002	N	0.002859	T	0.56702	0.2003	M	0.73962	2.25	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.983	P;P;P	0.58970	0.696;0.719;0.849	T	0.56220	-0.8015	10	0.15499	T	0.54	-1.7224	8.8332	0.35096	0.1489:0.77:0.0:0.0811	.	195;144;193	A8MU17;Q86TN4-2;Q86TN4	.;.;TRPT1_HUMAN	H	144;195;193	ENSP00000378051:R144H;ENSP00000378050:R195H;ENSP00000314073:R193H	ENSP00000314073:R193H	R	-	2	0	TRPT1	63748240	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.630000	0.54273	1.312000	0.45043	-0.266000	0.10368	CGC	.		0.567	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396579.1	NM_031472		T	63991664	C	T	63991664	3	4	23	1	0	0	0	0	1	0	0	0	16642	768	27	1	191	1	TRPT1	11	63991664	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	4859517	63991664	71014852	72	3088											
DLG2	1740	hgsc.bcm.edu	37	11	84865696	84865696	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:84865696C>A	ENST00000376104.2	-	5	498		c.e5-1		DLG2_ENST00000543673.1_Splice_Site	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.?(1)		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)				AATCTGTAAGCTAAAATAAAA	0.274																																					.		.											DLG2_ENST00000376104,NS,carcinoma,0,1	DLG2_ENST00000376104	0	1	Unknown(1)	endometrium(1)	c.187-1G>T						.						73	61	65					11																	84865696		1354	3052	4406	SO:0001630	splice_region_variant	1740	exon6			TGTAAGCTAAAAT	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	ENST00000376104.2:c.187-1G>T	11.37:g.84865696C>A		20	0		19	2	NM_001142699	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Splice_Site	SNP	ENST00000376104.2	37	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039525	0.35989	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6096	0.62068	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG2	84543344	0.985000	0.35326	0.921000	0.36526	0.395000	0.30598	3.296000	0.51802	2.601000	0.87937	0.563000	0.77884	.	.		0.274	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364	Intron	A	84865696	C	A	84865696	5	1	23	1	0	0	0	0	0	0	1	0	4569	811	28	3	3042	3	DLG2	11	84865696	Splice_Site	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	20874032	84865696	50140820	73	3089											
MAML2	84441	ucsc.edu	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	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				Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,rectum,carcinoma,0,2	MAML2	94	1	Substitution - coding silent(1)	kidney(1)	c.G1788A						.						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		34	0		39	5	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			C|0.250;T|0.750		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825407	C	T	95825407	2	4	23	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825407	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	10959711	95825407	39181109	74	3090											
PHLDB1	23187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118499246	118499246	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:118499246G>T	ENST00000361417.2	+	7	2118	c.1707G>T	c.(1705-1707)gtG>gtT	p.V569V	PHLDB1_ENST00000356063.5_Silent_p.V569V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	569										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)		ACTTGCGGGTGCCTGTCACAA	0.617																																					p.V569V		.											.	.	.	0			c.G1707T						.						24	24	24					11																	118499246		2176	4252	6428	SO:0001819	synonymous_variant	23187	exon6			GCGGGTGCCTGTC		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.1707G>T	11.37:g.118499246G>T		73	0		50	13	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	CCDS8401.1																																																																																			.		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		T	118499246	G	T	118499246	2	4	23	1	0	0	0	0	0	0	0	1	11890	1306	46	3		3	PHLDB1	11	118499246	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	22673839	118499246	16507270	75	3091											
ETS1	2113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:128354828G>A	ENST00000319397.6	-	5	929	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ETS1_ENST00000392668.4_Missense_Mutation_p.S251L|ETS1_ENST00000345075.4_Missense_Mutation_p.S207L|ETS1_ENST00000531611.1_Missense_Mutation_p.S207L|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Missense_Mutation_p.S207L	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	207	Activation domain; required for transcription activation.				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)	p.S207L(1)|p.S251L(1)		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)		GAGAATGACCGAGGGGTAGTC	0.522																																					p.S251L		.											ETS1_ENST00000392668,NS,carcinoma,0,2	ETS1_ENST00000392668	0	2	Substitution - Missense(2)	lung(2)	c.C752T						.						144	129	134					11																	128354828		2201	4297	6498	SO:0001583	missense	2113	exon7			ATGACCGAGGGGT		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.620C>T	11.37:g.128354828G>A	ENSP00000324578:p.Ser207Leu	36	0		25	9	NM_001143820	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765361	0.31228	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.47177	3.07;2.69;0.85;2.72;3.07	5.67	5.67	0.87782	.	0.505280	0.19302	N	0.117612	T	0.31167	0.0788	N	0.12182	0.205	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.08086	-1.0739	10	0.39692	T	0.17	.	13.0358	0.58870	0.0736:0.0:0.9264:0.0	.	207;207;251	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	L	207;251;207;207;207	ENSP00000340485:S207L;ENSP00000376436:S251L;ENSP00000435666:S207L;ENSP00000324578:S207L;ENSP00000433500:S207L	ENSP00000324578:S207L	S	-	2	0	ETS1	127860038	0.998000	0.40836	0.943000	0.38184	0.742000	0.42306	3.738000	0.55067	2.673000	0.90976	0.561000	0.74099	TCG	.		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		A	128354828	G	A	128354828	3	1	23	1	0	0	0	0	1	0	0	0	5291	1059	37	1	721	1	ETS1	11	128354828	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	9855582	128354828	6651688	76	3092											
APLP2	334	ucsc.edu;bcgsc.ca	37	11	129992294	129992294	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:129992294G>T	ENST00000263574.5	+	6	880	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	APLP2_ENST00000528499.1_Missense_Mutation_p.D270Y|APLP2_ENST00000278756.7_Missense_Mutation_p.D280Y|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.D270Y|APLP2_ENST00000539648.1_Missense_Mutation_p.D114Y|APLP2_ENST00000543137.1_Missense_Mutation_p.D177Y	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	270	Asp/Glu-rich (highly acidic).				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)		agtggtggaggaCCGAGATTA	0.483																																					p.D280Y													.	APLP2	71	0			c.G838T						.						208	181	190					11																	129992294		2201	4297	6498	SO:0001583	missense	334	exon6			GTGGAGGACCGAG	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.808G>T	11.37:g.129992294G>T	ENSP00000263574:p.Asp270Tyr	48	0		40	4	NM_001243299	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296106	0.81025	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D	0.94723	-3.5;-3.4;-1.89;-2.03;-2.04;-2.02	5.49	5.49	0.81192	.	0.186785	0.43579	D	0.000557	D	0.95046	0.8396	L	0.29908	0.895	0.42665	D	0.993497	D;D;D;P;D;D	0.76494	0.999;0.999;0.999;0.95;0.999;0.999	D;P;D;B;D;D	0.66351	0.943;0.873;0.943;0.429;0.943;0.912	D	0.95495	0.8572	10	0.54805	T	0.06	-20.2311	17.9692	0.89108	0.0:0.0:1.0:0.0	.	114;270;270;264;270;270	F5H845;Q06481;Q06481-2;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.	Y	270;114;270;270;280;177	ENSP00000435914:D270Y;ENSP00000443728:D114Y;ENSP00000263574:D270Y;ENSP00000345444:D270Y;ENSP00000278756:D280Y;ENSP00000444122:D177Y	ENSP00000263574:D270Y	D	+	1	0	APLP2	129497504	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.767000	0.74975	2.575000	0.86900	0.462000	0.41574	GAC	.		0.483	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		T	129992294	G	T	129992294	3	4	23	1	0	0	0	0	1	0	0	0	779	1174	41	3	830	3	APLP2	11	129992294	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	1637466	129992294	5014222	77	3093											
DCP1B	196513	hgsc.bcm.edu	37	12	2062323	2062323	+	Silent	SNP	T	T	C	rs149912567|rs71057810|rs111543431|rs373461041		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:2062323T>C	ENST00000280665.6	-	7	862	c.783A>G	c.(781-783)caA>caG	p.Q261Q	DCP1B_ENST00000540622.1_Silent_p.Q135Q|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Silent_p.Q159Q	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	261	Poly-Gln.				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)	p.Q261_E262insQ(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGCTTCTCTtgctgctgct	0.557																																					p.Q261Q		.											.,4	.	63	2	Insertion - In frame(2)	breast(1)|kidney(1)	c.A783G						.						38	43	42					12																	2062323		2203	4300	6503	SO:0001819	synonymous_variant	196513	exon7			CTTCTCTTGCTGC	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.783A>G	12.37:g.2062323T>C		27	1		27	2	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																			.		0.557	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2062323	T	C	2062323	2	2	23	1	0	0	0	0	0	0	0	1	4308	1606	56	4		4	DCP1B	12	2062323	Silent	SNP	T	TCGA-W5-AA38-01A-11D-A417-09		2062323	131789572	78	3094											
DCP1B	196513	hgsc.bcm.edu	37	12	2062353	2062353	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:2062353G>C	ENST00000280665.6	-	7	832	c.753C>G	c.(751-753)caC>caG	p.H251Q	DCP1B_ENST00000540622.1_Missense_Mutation_p.H125Q|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.H149Q	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251				H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	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)			gctgctgctgGTGGAGAGTCT	0.552																																					p.H251Q		.											DCP1B,rectum,carcinoma,0,1	DCP1B	0	0			c.C753G						.						36	42	40					12																	2062353		2203	4300	6503	SO:0001583	missense	196513	exon7			CTGCTGGTGGAGA	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.753C>G	12.37:g.2062353G>C	ENSP00000280665:p.His251Gln	35	2		41	3	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.346987	0.01266	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.17054	2.32;2.31;2.3	4.5	0.369	0.16151	.	1.548950	0.03620	N	0.236163	T	0.16769	0.0403	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.41822	-0.9487	10	0.12766	T	0.61	0.002	15.1763	0.72913	0.0:0.5449:0.4551:0.0	.	149;251	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	Q	251;149;125	ENSP00000280665:H251Q;ENSP00000380358:H149Q;ENSP00000444374:H125Q	ENSP00000280665:H251Q	H	-	3	2	DCP1B	1932614	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.086000	0.11233	-0.095000	0.12351	-0.835000	0.03068	CAC	.		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2062353	G	C	2062353	3	2	23	1	0	0	0	0	1	0	0	0	4308	1252	44	5	1112	5	DCP1B	12	2062353	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	30	2062353	131789542	79	3095	12	2									
DCP1B	196513	hgsc.bcm.edu	37	12	2062357	2062357	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:2062357A>T	ENST00000280665.6	-	7	828	c.749T>A	c.(748-750)cTc>cAc	p.L250H	DCP1B_ENST00000540622.1_Missense_Mutation_p.L124H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.L148H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	250					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)			ctgctgGTGGAGAGTCTGCGG	0.542																																					p.L250H		.											DCP1B,NS,haematopoietic_neoplasm,0,1	DCP1B	0	0			c.T749A						.						37	43	41					12																	2062357		2203	4300	6503	SO:0001583	missense	196513	exon7			TGGTGGAGAGTCT	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.749T>A	12.37:g.2062357A>T	ENSP00000280665:p.Leu250His	38	2		44	4	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366372	0.24771	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.20332	2.1;2.09;2.08	4.46	0.638	0.17742	.	1.966910	0.01874	N	0.037412	T	0.28366	0.0701	L	0.47716	1.5	0.09310	N	1	D;D	0.60575	0.986;0.988	P;P	0.51487	0.671;0.533	T	0.11036	-1.0604	10	0.59425	D	0.04	0.3117	4.2956	0.10899	0.5008:0.2856:0.2136:0.0	.	148;250	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	250;148;124	ENSP00000280665:L250H;ENSP00000380358:L148H;ENSP00000444374:L124H	ENSP00000280665:L250H	L	-	2	0	DCP1B	1932618	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.063000	0.14410	0.254000	0.21573	0.528000	0.53228	CTC	.		0.542	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		T	2062357	A	T	2062357	3	4	23	1	0	0	0	0	1	0	0	0	4308	304	11	5	1116	5	DCP1B	12	2062357	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09	4	2062357	131789538	80	3096	12	2									
ANO6	196527	hgsc.bcm.edu	37	12	45803228	45803228	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:45803228C>T	ENST00000320560.8	+	16	2171	c.1969C>T	c.(1969-1971)Cct>Tct	p.P657S	ANO6_ENST00000425752.2_Missense_Mutation_p.P657S|ANO6_ENST00000423947.3_Missense_Mutation_p.P678S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.P657S|ANO6_ENST00000441606.2_Missense_Mutation_p.P639S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	657					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCATCTGCAGCCTATGGGCAA	0.378																																					p.P678S		.											.	.	.	0			c.C2032T						.						122	122	122					12																	45803228		2203	4300	6503	SO:0001583	missense	196527	exon17			CTGCAGCCTATGG	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1969C>T	12.37:g.45803228C>T	ENSP00000320087:p.Pro657Ser	108	0		80	4	NM_001204803	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418743	0.25552	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.23	4.32	0.51571	.	0.293170	0.38436	N	0.001689	T	0.52996	0.1769	L	0.57536	1.79	0.46542	D	0.999094	B;B;B;B	0.26635	0.001;0.006;0.155;0.141	B;B;B;B	0.26310	0.004;0.023;0.064;0.068	T	0.51764	-0.8664	10	0.34782	T	0.22	.	5.675	0.17743	0.1383:0.6332:0.1529:0.0755	.	639;678;657;657	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	657;678;657;657;639	ENSP00000391417:P657S;ENSP00000409126:P678S;ENSP00000413840:P657S;ENSP00000320087:P657S;ENSP00000413137:P639S	ENSP00000320087:P657S	P	+	1	0	ANO6	44089495	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.942000	0.40243	1.494000	0.48533	0.655000	0.94253	CCT	.		0.378	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		T	45803228	C	T	45803228	3	4	23	1	0	0	0	0	1	0	0	0	701	739	26	3	2051	3	ANO6	12	45803228	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	43740871	45803228	88048667	81	3097											
MLL2	8085	hgsc.bcm.edu	37	12	49420526	49420526	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:49420526C>T	ENST00000301067.7	-	48	15222	c.15223G>A	c.(15223-15225)Ggg>Agg	p.G5075R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5075					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.G5075R(1)|p.G4805R(1)									ATCAGTGCCCCGCCCTGGGTC	0.627																																					p.G5075R		.											MLL2_ENST00000301067,colon,carcinoma,0,2	MLL2_ENST00000301067	0	2	Substitution - Missense(2)	large_intestine(2)	c.G15223A						.						44	49	47					12																	49420526		2079	4201	6280	SO:0001583	missense	8085	exon48			GTGCCCCGCCCTG	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.15223G>A	12.37:g.49420526C>T	ENSP00000301067:p.Gly5075Arg	25	0		15	2	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329952	0.41297	.	.	ENSG00000167548	ENST00000301067	T	0.70399	-0.48	4.48	4.48	0.54585	.	0.000000	0.37304	N	0.002158	D	0.86732	0.6003	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89979	0.4099	10	0.87932	D	0	.	16.3049	0.82844	0.0:1.0:0.0:0.0	.	5075	O14686	MLL2_HUMAN	R	5075	ENSP00000301067:G5075R	ENSP00000301067:G5075R	G	-	1	0	MLL2	47706793	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.818000	0.86416	2.226000	0.72624	0.655000	0.94253	GGG	.		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49420526	C	T	49420526	3	4	23	1	0	0	0	0	1	0	0	0	9659	652	23	1	1418	1	MLL2	12	49420526	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	3617298	49420526	84431369	82	3098											
OR6C2	341416	hgsc.bcm.edu	37	12	55846882	55846882	+	Silent	SNP	G	G	T	rs142733366		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:55846882G>T	ENST00000322678.1	+	1	885	c.885G>T	c.(883-885)gtG>gtT	p.V295V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	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)	p.V295V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ACAAGCAAGTGAAACAAGCTT	0.398																																					p.V295V		.											OR6C2,shoulder,malignant_melanoma,0,1	OR6C2	0	1	Substitution - coding silent(1)	skin(1)	c.G885T						.						90	88	89					12																	55846882		2203	4300	6503	SO:0001819	synonymous_variant	341416	exon1			GCAAGTGAAACAA	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.885G>T	12.37:g.55846882G>T		25	0		35	2	NM_054105		Silent	SNP	ENST00000322678.1	37	CCDS31824.1																																																																																			.		0.398	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		T	55846882	G	T	55846882	2	4	23	1	0	0	0	0	0	0	0	1	11230	1277	45	3		3	OR6C2	12	55846882	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	6426356	55846882	78005013	83	3099											
XPOT	11260	hgsc.bcm.edu	37	12	64824051	64824051	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:64824051G>T	ENST00000332707.5	+	17	2489	c.1960G>T	c.(1960-1962)Gct>Tct	p.A654S		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	654	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.A654T(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TCTTAACCATGCTGTTGGATT	0.398																																					p.A654S		.											XPOT,NS,carcinoma,0,1	XPOT	0	1	Substitution - Missense(1)	ovary(1)	c.G1960T						.						63	59	60					12																	64824051		2203	4300	6503	SO:0001583	missense	11260	exon17			AACCATGCTGTTG	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1960G>T	12.37:g.64824051G>T	ENSP00000327821:p.Ala654Ser	59	0		47	2	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534292	0.64972	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.67523	-0.27;-0.27	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	L	0.47716	1.5	0.80722	D	1	B	0.30193	0.272	B	0.20767	0.031	T	0.56208	-0.8017	9	.	.	.	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	654	O43592	XPOT_HUMAN	S	654;176	ENSP00000327821:A654S;ENSP00000444345:A176S	.	A	+	1	0	XPOT	63110318	1.000000	0.71417	0.996000	0.52242	0.043000	0.13939	9.331000	0.96430	2.752000	0.94435	0.650000	0.86243	GCT	.		0.398	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		T	64824051	G	T	64824051	3	4	23	1	0	0	0	0	1	0	0	0	17499	1319	46	3	2022	3	XPOT	12	64824051	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	8977169	64824051	69027844	84	3100											
BEST3	144453	bcgsc.ca	37	12	70091527	70091527	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:70091527G>T	ENST00000330891.5	-	2	278	c.52C>A	c.(52-54)Cat>Aat	p.H18N	BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.H18N|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000266661.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	18					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)			AGTAACCTATGAAATCCAAAA	0.348																																					p.H18N													.	BEST3	129	0			c.C52A						.						116	113	114					12																	70091527		1830	4090	5920	SO:0001583	missense	144453	exon2			ACCTATGAAATCC	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.52C>A	12.37:g.70091527G>T	ENSP00000332413:p.His18Asn	72	0		58	4	NM_032735	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154318	0.38021	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98419	-4.92;-4.92;-4.92	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	L	0.36672	1.1	0.80722	D	1	D;B	0.55385	0.971;0.244	P;B	0.55871	0.786;0.038	D	0.96900	0.9659	10	0.28530	T	0.3	-17.9728	20.1535	0.98095	0.0:0.0:1.0:0.0	.	18;18	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	N	18	ENSP00000329064:H18N;ENSP00000332413:H18N;ENSP00000446575:H18N	ENSP00000332413:H18N	H	-	1	0	BEST3	68377794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.912000	0.63335	2.764000	0.94973	0.650000	0.86243	CAT	.		0.348	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		T	70091527	G	T	70091527	3	4	23	1	0	0	0	0	1	0	0	0	1407	1290	45	3	1990	3	BEST3	12	70091527	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	5267476	70091527	63760368	85	3101											
TDG	6996	hgsc.bcm.edu	37	12	104374675	104374675	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:104374675G>A	ENST00000392872.3	+	4	647	c.413G>A	c.(412-414)gGc>gAc	p.G138D	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.G134D	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	138					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)		TTATAGATTGGCATAAACCCG	0.358								Base excision repair (BER), DNA glycosylases																													p.G138D		.											.	.	.	0			c.G413A						.						153	149	151					12																	104374675		2203	4300	6503	SO:0001583	missense	6996	exon4			AGATTGGCATAAA	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.413G>A	12.37:g.104374675G>A	ENSP00000376611:p.Gly138Asp	98	0		79	4	NM_003211	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836676	0.91117	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.71	4.71	0.59529	Uracil-DNA glycosylase-like (3);	0.050714	0.85682	D	0.000000	D	0.95373	0.8498	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96304	0.9223	10	0.87932	D	0	-15.1194	18.0272	0.89272	0.0:0.0:1.0:0.0	.	138;138	B2R848;Q13569	.;TDG_HUMAN	D	138;113;134;138	ENSP00000376611:G138D;ENSP00000390167:G113D;ENSP00000266775:G134D;ENSP00000439825:G138D	ENSP00000266775:G134D	G	+	2	0	TDG	102898805	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.657000	0.83745	2.328000	0.79073	0.557000	0.71058	GGC	.		0.358	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			A	104374675	G	A	104374675	3	1	23	1	0	0	0	0	1	0	0	0	15772	1203	42	3	427	3	TDG	12	104374675	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	34283148	104374675	29477220	86	3102											
PRDM4	11108	hgsc.bcm.edu	37	12	108145794	108145794	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:108145794G>T	ENST00000228437.5	-	5	983	c.524C>A	c.(523-525)gCc>gAc	p.A175D	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	175					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						AAGACTTTGGGCACCATGTGT	0.468																																					p.A175D		.											PRDM4,NS,carcinoma,0,1	PRDM4	0	0			c.C524A						.						149	132	138					12																	108145794		2203	4300	6503	SO:0001583	missense	11108	exon5			CTTTGGGCACCAT	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.524C>A	12.37:g.108145794G>T	ENSP00000228437:p.Ala175Asp	56	0		50	2	NM_012406	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407553	0.62399	.	.	ENSG00000110851	ENST00000228437	D	0.82893	-1.66	5.66	5.66	0.87406	.	0.569957	0.18565	N	0.137520	T	0.73753	0.3627	N	0.14661	0.345	0.43959	D	0.996632	B	0.23058	0.079	B	0.18871	0.023	T	0.70392	-0.4884	10	0.72032	D	0.01	-3.9551	17.9364	0.89013	0.0:0.0:1.0:0.0	.	175	Q9UKN5	PRDM4_HUMAN	D	175	ENSP00000228437:A175D	ENSP00000228437:A175D	A	-	2	0	PRDM4	106669924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.780000	0.75063	2.656000	0.90262	0.655000	0.94253	GCC	.		0.468	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		T	108145794	G	T	108145794	3	4	23	1	0	0	0	0	1	0	0	0	12501	1203	42	3	1913	3	PRDM4	12	108145794	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	3771119	108145794	25706101	87	3103											
TUBA3C	7278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	19751499	19751499	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:19751499G>T	ENST00000400113.3	-	4	728	c.624C>A	c.(622-624)gcC>gcA	p.A208A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	208					'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)		TGTCATAGATGGCTTCATTGT	0.582																																					p.A208A		.											.	.	.	0			c.C624A						.						173	154	160					13																	19751499		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			ATAGATGGCTTCA	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.624C>A	13.37:g.19751499G>T		58	0		45	8	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			.		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751499	G	T	19751499	2	4	23	1	0	0	0	0	0	0	0	1	16795	1335	47	3		3	TUBA3C	13	19751499	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		19751499	95418379	88	3104											
MPHOSPH8	54737	hgsc.bcm.edu	37	13	20233249	20233249	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:20233249C>T	ENST00000361479.5	+	6	1759	c.1691C>T	c.(1690-1692)gCa>gTa	p.A564V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A564V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	564					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)		GCAACAGATGCAATTCCAAGT	0.338																																					p.A564V		.											MPHOSPH8,NS,carcinoma,0,1	MPHOSPH8	0	0			c.C1691T						.						114	113	113					13																	20233249		2203	4300	6503	SO:0001583	missense	54737	exon6			CAGATGCAATTCC	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.1691C>T	13.37:g.20233249C>T	ENSP00000355388:p.Ala564Val	92	0		47	2	NM_017520	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526291	0.27299	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.70631	-0.5;-0.5	5.61	-0.489	0.12052	Ankyrin repeat-containing domain (2);	0.880184	0.10296	N	0.691737	T	0.53094	0.1775	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.30937	-0.9961	10	0.30078	T	0.28	.	7.6964	0.28598	0.0:0.4778:0.3342:0.1879	.	564;564	Q99549;Q99549-2	MPP8_HUMAN;.	V	564	ENSP00000414663:A564V;ENSP00000355388:A564V	ENSP00000355388:A564V	A	+	2	0	MPHOSPH8	19131249	0.654000	0.27367	0.000000	0.03702	0.954000	0.61252	2.088000	0.41663	-0.481000	0.06792	-0.264000	0.10439	GCA	.		0.338	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		T	20233249	C	T	20233249	3	4	23	1	0	0	0	0	1	0	0	0	9765	710	25	3	1713	3	MPHOSPH8	13	20233249	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	481750	20233249	94936629	89	3105											
F7	2155	hgsc.bcm.edu	37	13	113770013	113770013	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:113770013G>T	ENST00000375581.3	+	6	505	c.470G>T	c.(469-471)gGc>gTc	p.G157V	F7_ENST00000541084.1_Missense_Mutation_p.G88V|F7_ENST00000346342.3_Missense_Mutation_p.G135V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	157	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> C (in FA7D).|G -> S (in FA7D). {ECO:0000269|PubMed:10862079, ECO:0000269|PubMed:18976247}.|G -> V (in FA7D). {ECO:0000269|PubMed:11129332}.		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)	GAGAACGGCGGCTGTGAGCAG	0.642																																					p.G157V		.											F7,NS,carcinoma,0,1	F7	0	0			c.G470T	GRCh37	CM002763	F7	M		.						55	44	48					13																	113770013		2203	4300	6503	SO:0001583	missense	2155	exon6			ACGGCGGCTGTGA		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.470G>T	13.37:g.113770013G>T	ENSP00000364731:p.Gly157Val	34	0		21	2	NM_000131	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254557	0.39896	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.99766	-6.69;-2.81;-6.69	4.3	2.54	0.30619	Epidermal growth factor-like (1);	0.379201	0.26262	N	0.025394	D	0.99743	0.9898	M	0.94142	3.5	0.80722	D	1	D;D;D;D	0.69078	0.995;0.992;0.997;0.994	D;D;D;D	0.69479	0.964;0.941;0.959;0.911	D	0.98991	1.0808	10	0.87932	D	0	.	6.9395	0.24484	0.2933:0.0:0.7067:0.0	.	88;88;135;157	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	V	135;88;157	ENSP00000329546:G135V;ENSP00000442051:G88V;ENSP00000364731:G157V	ENSP00000329546:G135V	G	+	2	0	F7	112818014	1.000000	0.71417	0.934000	0.37439	0.208000	0.24298	2.668000	0.46816	0.431000	0.26258	0.563000	0.77884	GGC	.		0.642	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		T	113770013	G	T	113770013	3	4	23	1	0	0	0	0	1	0	0	0	5365	1203	42	3	492	3	F7	13	113770013	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	93536764	113770013	1399865	90	3106											
CLEC14A	161198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	38724339	38724339	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr14:38724339C>T	ENST00000342213.2	-	1	1235	c.889G>A	c.(889-891)Ggg>Agg	p.G297R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	297						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)		CCGGTCCCCCCAAGGGTCGGC	0.667																																					p.G297R		.											.	.	.	0			c.G889A						.						39	45	43					14																	38724339		2200	4296	6496	SO:0001583	missense	161198	exon1			TCCCCCCAAGGGT		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.889G>A	14.37:g.38724339C>T	ENSP00000353013:p.Gly297Arg	27	0		12	6	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919848	0.33908	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.77620	-1.11	3.84	2.89	0.33648	.	0.341025	0.20056	N	0.100186	T	0.62319	0.2418	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.18561	0.022	T	0.52917	-0.8511	10	0.45353	T	0.12	-0.583	6.2412	0.20791	0.0:0.8508:0.0:0.1492	.	297	Q86T13	CLC14_HUMAN	R	297;62	ENSP00000353013:G297R	ENSP00000353013:G297R	G	-	1	0	CLEC14A	37794090	0.010000	0.17322	0.002000	0.10522	0.002000	0.02628	2.353000	0.44089	1.120000	0.41904	0.491000	0.48974	GGG	.		0.667	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		T	38724339	C	T	38724339	3	4	23	1	0	0	0	0	1	0	0	0	3506	594	21	3	587	3	CLEC14A	14	38724339	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		38724339	68625201	91	3107											
GPHN	10243	hgsc.bcm.edu	37	14	67635650	67635650	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr14:67635650G>T	ENST00000315266.5	+	20	2998	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	GPHN_ENST00000305960.9_Splice_Site_p.G595V|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Splice_Site_p.G672V|GPHN_ENST00000478722.1_Splice_Site_p.G659V	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	626	MPT adenylyltransferase.				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)		TGACTTTCAGGGAATCCTGTA	0.428			T	MLL	AL																																p.G659V		.		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	GPHN_ENST00000478722,colon,carcinoma,0,1	GPHN_ENST00000478722	0	0			c.G1976T						.						97	94	95					14																	67635650		2203	4300	6503	SO:0001630	splice_region_variant	10243	exon21			TTTCAGGGAATCC	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.1877-1G>T	14.37:g.67635650G>T		28	0		30	3	NM_020806	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797611	0.90538	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94	5.32	5.32	0.75619	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.051439	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99090	4.425	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.994;0.997;0.992	D	0.99187	1.0869	9	.	.	.	.	18.781	0.91932	0.0:0.0:1.0:0.0	.	595;672;626;659	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	V	626;659;672;595;151	ENSP00000312771:G626V;ENSP00000417901:G659V;ENSP00000438404:G672V;ENSP00000303019:G595V;ENSP00000452009:G151V	.	G	+	2	0	GPHN	66705403	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.991000	0.93514	2.764000	0.94973	0.650000	0.86243	GGG	.		0.428	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	Missense_Mutation	T	67635650	G	T	67635650	5	4	23	1	0	0	0	0	0	0	1	0	6636	1246	43	3	2058	3	GPHN	14	67635650	Splice_Site	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	28911311	67635650	39713890	92	3108											
UBE3A	7337	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	25599825	25599825	+	Frame_Shift_Del	DEL	A	A	-			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:25599825delA	ENST00000397954.2	-	8	2138	c.2139delT	c.(2137-2139)tttfs	p.F713fs	UBE3A_ENST00000428984.2_Frame_Shift_Del_p.F690fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Frame_Shift_Del_p.F690fs|UBE3A_ENST00000232165.3_Frame_Shift_Del_p.F710fs|UBE3A_ENST00000438097.1_Frame_Shift_Del_p.F690fs			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	713					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)		AAAGATTGACAAATTCCTGTA	0.318																																					p.V714fs		.											.	.	.	0			c.2140delG						.						34	35	34					15																	25599825		2200	4294	6494	SO:0001589	frameshift_variant	7337	exon11			ATTGACAAATTCC	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.2139delT	15.37:g.25599825delA	ENSP00000381045:p.Phe713fs	115	0		70	17	NM_000462	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Frame_Shift_Del	DEL	ENST00000397954.2	37	CCDS45192.1																																																																																			.		0.318	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		-	25599825	A	-	25599825	7	5	23	1	0	1	0	1	0	0	0	0	16928	127	5	0	504	0	UBE3A	15	25599825	Frame_Shift_Del	DEL	A	TCGA-W5-AA38-01A-11D-A417-09		25599825	76931567	93	3109											
FAM98B	283742	hgsc.bcm.edu	37	15	38776827	38776827	+	IGR	SNP	T	T	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:38776827T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G423G	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)			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)		gtggtggtggtggtggtggag	0.443																																					p.G423G		.											FAM98B_ENST00000397609,NS,carcinoma,0,1	FAM98B_ENST00000397609	0	0			c.T1269A						.						19	18	18					15																	38776827		1515	3413	4928	SO:0001628	intergenic_variant	283742	exon8			TGGTGGTGGTGGT		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.38776827T>A		9	0		10	2	NM_173611	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																			.		0.443	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38776827	T	A	38776827	1	1	23	0	1	0	0	0	0	0	0	0	5679	1683	59	5		5	FAM98B	15	38776827	IGR	SNP	T	TCGA-W5-AA38-01A-11D-A417-09	13177002	38776827	63754565	94	3110											
ZNF609	23060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	64968453	64968453	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:64968453C>A	ENST00000326648.3	+	4	3528	c.3400C>A	c.(3400-3402)Cag>Aag	p.Q1134K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1134						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						CTGGTACCGACAGGTAACTGT	0.517																																					p.Q1134K		.											.	.	.	0			c.C3400A						.						49	54	53					15																	64968453		2121	4238	6359	SO:0001583	missense	23060	exon4			TACCGACAGGTAA	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.3400C>A	15.37:g.64968453C>A	ENSP00000316527:p.Gln1134Lys	45	0		35	12	NM_015042	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305652	0.95601	.	.	ENSG00000180357	ENST00000326648	T	0.55760	0.5	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.64404	1.975	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	T	0.68864	-0.5296	10	0.41790	T	0.15	-13.1949	19.1573	0.93516	0.0:1.0:0.0:0.0	.	1134	O15014	ZN609_HUMAN	K	1134	ENSP00000316527:Q1134K	ENSP00000316527:Q1134K	Q	+	1	0	ZNF609	62755506	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.453000	0.80700	2.520000	0.84964	0.655000	0.94253	CAG	.		0.517	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64968453	C	A	64968453	3	1	23	1	0	0	0	0	1	0	0	0	18083	479	17	3	3414	3	ZNF609	15	64968453	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	26191626	64968453	37562939	95	3111	13	2									
ZNF609	23060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	64968457	64968457	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:64968457T>G	ENST00000326648.3	+	4	3530		c.e4+2			NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609							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						TACCGACAGGTAACTGTTGCC	0.507																																					.		.											.	.	.	0			c.3402+2T>G						.						49	54	52					15																	64968457		2116	4232	6348	SO:0001630	splice_region_variant	23060	exon4			GACAGGTAACTGT	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.3402+2T>G	15.37:g.64968457T>G		44	0		36	12	NM_015042	Q0D2I2	Splice_Site	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706261	0.89018	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4104	0.74914	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF609	62755510	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.662000	0.83803	2.038000	0.60285	0.533000	0.62120	.	.		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	Intron	G	64968457	T	G	64968457	5	3	23	1	0	0	0	0	0	0	1	0	18083	1652	57	4	3418	4	ZNF609	15	64968457	Splice_Site	SNP	T	TCGA-W5-AA38-01A-11D-A417-09	4	64968457	37562935	96	3112	13	2									
IQGAP1	8826	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	90972899	90972899	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:90972899G>T	ENST00000268182.5	+	4	514		c.e4+1		IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1						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)			ATTGCCTAAGGTAACTTACCT	0.383																																					.		.											.	.	.	0			c.390+1G>T						.						155	142	147					15																	90972899		2198	4298	6496	SO:0001630	splice_region_variant	8826	exon4			CCTAAGGTAACTT	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.390+1G>T	15.37:g.90972899G>T		34	0		41	4	NM_003870	A7MBM3	Splice_Site	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618092	0.87359	.	.	ENSG00000140575	ENST00000268182	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQGAP1	88773903	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.563000	0.98148	2.776000	0.95493	0.650000	0.86243	.	.		0.383	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	Intron	T	90972899	G	T	90972899	5	4	23	1	0	0	0	0	0	0	1	0	7841	1275	44	3	405	3	IQGAP1	15	90972899	Splice_Site	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	26004442	90972899	11558493	97	3113											
DNASE1L2	1775	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	2287818	2287818	+	Silent	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:2287818G>C	ENST00000564065.1	+	5	1643	c.642G>C	c.(640-642)gcG>gcC	p.A214A	DNASE1L2_ENST00000567494.1_Silent_p.A214A|RP11-304L19.11_ENST00000565709.1_RNA|DNASE1L2_ENST00000382437.4_Silent_p.A193A|DNASE1L2_ENST00000320700.5_Silent_p.A214A|RP11-304L19.12_ENST00000564055.1_lincRNA			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	214					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						ATGTGCGGGCGCAGGACTGGG	0.672																																					p.A214A		.											.	.	.	0			c.G642C						.						18	24	22					16																	2287818		2090	4199	6289	SO:0001819	synonymous_variant	1775	exon6			GCGGGCGCAGGAC	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.642G>C	16.37:g.2287818G>C		32	0		19	4	NM_001374	E9PBY4|Q6JVM2|Q6JVM3	Silent	SNP	ENST00000564065.1	37	CCDS42105.1																																																																																			.		0.672	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435236.1	NM_001374		C	2287818	G	C	2287818	2	2	23	1	0	0	0	0	0	0	0	1	4676	1074	38	5		5	DNASE1L2	16	2287818	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		2287818	88066935	98	3114											
PPL	5493	bcgsc.ca	37	16	4938984	4938984	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:4938984C>T	ENST00000345988.2	-	19	2481	c.2392G>A	c.(2392-2394)Gta>Ata	p.V798I	PPL_ENST00000590782.2_Missense_Mutation_p.V796I	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	798					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						CTCACCTTTACAGCTTGCTGG	0.512																																					p.V798I													.	PPL	168	0			c.G2392A						.						347	341	343					16																	4938984		2197	4300	6497	SO:0001583	missense	5493	exon19			CCTTTACAGCTTG	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.2392G>A	16.37:g.4938984C>T	ENSP00000340510:p.Val798Ile	50	0		57	4	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618985	0.46736	.	.	ENSG00000118898	ENST00000345988	T	0.52526	0.66	5.48	5.48	0.80851	.	0.073236	0.53938	D	0.000050	T	0.62270	0.2414	L	0.54323	1.7	0.46376	D	0.999011	D	0.64830	0.994	D	0.72625	0.978	T	0.53865	-0.8378	10	0.11485	T	0.65	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	798	O60437	PEPL_HUMAN	I	798	ENSP00000340510:V798I	ENSP00000340510:V798I	V	-	1	0	PPL	4878985	0.999000	0.42202	0.444000	0.26895	0.095000	0.18619	4.200000	0.58433	2.569000	0.86673	0.555000	0.69702	GTA	.		0.512	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4938984	C	T	4938984	3	4	23	1	0	0	0	0	1	0	0	0	12376	478	17	3	2894	3	PPL	16	4938984	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	2651166	4938984	85415769	99	3115											
HS3ST4	9951	hgsc.bcm.edu	37	16	26147094	26147094	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:26147094C>T	ENST00000331351.5	+	2	1288	c.896C>T	c.(895-897)aCg>aTg	p.T299M	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	299					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCTGACTACACGCAGACACTG	0.547																																					p.T299M		.											HS3ST4_ENST00000331351,NS,carcinoma,0,4	HS3ST4_ENST00000331351	0	0			c.C896T						.						150	140	143					16																	26147094		1568	3582	5150	SO:0001583	missense	9951	exon2			ACTACACGCAGAC	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.896C>T	16.37:g.26147094C>T	ENSP00000330606:p.Thr299Met	26	0		28	2	NM_006040	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512321	0.85389	.	.	ENSG00000182601	ENST00000331351	D	0.82893	-1.66	5.11	5.11	0.69529	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.92018	0.7471	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93296	0.6672	10	0.87932	D	0	.	17.5178	0.87779	0.0:1.0:0.0:0.0	.	299	Q9Y661	HS3S4_HUMAN	M	299	ENSP00000330606:T299M	ENSP00000330606:T299M	T	+	2	0	HS3ST4	26054595	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.783000	0.85696	2.375000	0.81037	0.655000	0.94253	ACG	.		0.547	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		T	26147094	C	T	26147094	3	4	23	1	0	0	0	0	1	0	0	0	7394	536	19	1	902	1	HS3ST4	16	26147094	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	21208110	26147094	64207659	100	3116											
AMFR	267	ucsc.edu;bcgsc.ca	37	16	56442015	56442015	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:56442015G>T	ENST00000290649.5	-	4	737	c.527C>A	c.(526-528)cCc>cAc	p.P176H	RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	176					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGGCGTGGTGGGCGAGAAGGA	0.527																																					p.P176H	Pancreas(2;144 323 39528)												.	AMFR	40	0			c.C527A						.						78	67	71					16																	56442015		2198	4300	6498	SO:0001583	missense	267	exon4			GTGGTGGGCGAGA	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.527C>A	16.37:g.56442015G>T	ENSP00000290649:p.Pro176His	25	0		28	4	NM_001144	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122345	0.94429	.	.	ENSG00000159461	ENST00000290649	T	0.43688	0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66093	-0.6009	10	0.44086	T	0.13	-28.5069	20.8794	0.99867	0.0:0.0:1.0:0.0	.	176	Q9UKV5	AMFR2_HUMAN	H	176	ENSP00000290649:P176H	ENSP00000290649:P176H	P	-	2	0	AMFR	54999516	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	CCC	.		0.527	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			T	56442015	G	T	56442015	3	4	23	1	0	0	0	0	1	0	0	0	571	1232	43	3	1448	3	AMFR	16	56442015	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	30294921	56442015	33912738	101	3117											
GLG1	2734	hgsc.bcm.edu;bcgsc.ca	37	16	74526937	74526937	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:74526937C>T	ENST00000422840.2	-	7	1151	c.1152G>A	c.(1150-1152)cgG>cgA	p.R384R	GLG1_ENST00000447066.2_Silent_p.R373R|GLG1_ENST00000205061.5_Silent_p.R384R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	384					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						CCACATTGCACCGGTATTTCT	0.448																																					p.R384R		.											.	.	.	0			c.G1152A						.						139	121	127					16																	74526937		2198	4300	6498	SO:0001819	synonymous_variant	2734	exon7			ATTGCACCGGTAT		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.1152G>A	16.37:g.74526937C>T		63	0		51	4	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	CCDS45527.1																																																																																			.		0.448	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		T	74526937	C	T	74526937	2	4	23	1	0	0	0	0	0	0	0	1	6462	494	18	3		3	GLG1	16	74526937	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	18084922	74526937	15827816	102	3118											
MYH1	4619	hgsc.bcm.edu	37	17	10398547	10398547	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:10398547G>A	ENST00000226207.5	-	36	5351	c.5257C>T	c.(5257-5259)Cgc>Tgc	p.R1753C	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	1753					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						TCTGCATTGCGGGCTTCCTGG	0.458																																					p.R1753C		.											MYH1,NS,carcinoma,0,1	MYH1	0	0			c.C5257T						.						267	226	240					17																	10398547		2203	4300	6503	SO:0001583	missense	4619	exon36			CATTGCGGGCTTC		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.5257C>T	17.37:g.10398547G>A	ENSP00000226207:p.Arg1753Cys	74	0		47	2	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169889	0.78452	.	.	ENSG00000109061	ENST00000226207	T	0.78924	-1.22	5.28	5.28	0.74379	Myosin tail (1);	0.159602	0.29335	U	0.012454	D	0.91355	0.7273	H	0.97186	3.955	0.58432	D	0.999999	D	0.69078	0.997	D	0.67548	0.952	D	0.93655	0.6976	10	0.87932	D	0	.	14.1553	0.65413	0.0:0.0:0.85:0.15	.	1753	P12882	MYH1_HUMAN	C	1753	ENSP00000226207:R1753C	ENSP00000226207:R1753C	R	-	1	0	MYH1	10339272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.883000	0.63128	2.618000	0.88619	0.561000	0.74099	CGC	.		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10398547	G	A	10398547	3	1	23	1	0	0	0	0	1	0	0	0	10067	1116	39	1	582	1	MYH1	17	10398547	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		10398547	70796663	103	3119											
GPR179	440435	broad.mit.edu	37	17	36491145	36491145	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:36491145C>T	ENST00000342292.4	-	7	1436	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	472					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)				ACAGAAACAGCTGCAGCACTC	0.652																																					p.Q472Q													.	GPR179	170	0			c.G1416A						.						4	6	6					17																	36491145		1995	4015	6010	SO:0001819	synonymous_variant	440435	exon7			AAACAGCTGCAGC		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.1416G>A	17.37:g.36491145C>T		12	0		5	2	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			.		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36491145	C	T	36491145	2	4	23	1	0	0	0	0	0	0	0	1	6700	796	28	3		3	GPR179	17	36491145	Silent	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	26092598	36491145	44704065	104	3120											
ZPBP2	124626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38028702	38028702	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:38028702G>C	ENST00000348931.4	+	5	777	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000377940.3_Missense_Mutation_p.E174Q	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	196					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)			TGAAATTCCAGAACATGGCCT	0.299																																					p.E196Q		.											.	.	.	0			c.G586C						.						66	59	62					17																	38028702		2202	4299	6501	SO:0001583	missense	124626	exon5			ATTCCAGAACATG	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.586G>C	17.37:g.38028702G>C	ENSP00000335384:p.Glu196Gln	34	0		43	6	NM_199321	A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	G	5.251	0.231709	0.09969	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.53423	0.62;0.62	5.48	1.97	0.26223	.	0.495381	0.20223	N	0.096651	T	0.32010	0.0815	L	0.44542	1.39	0.21325	N	0.999727	B;B	0.29037	0.231;0.001	B;B	0.22601	0.04;0.005	T	0.19353	-1.0308	10	0.48119	T	0.1	-4.2489	3.4872	0.07624	0.6568:0.0:0.1479:0.1953	.	174;196	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	Q	196;174	ENSP00000335384:E196Q;ENSP00000367174:E174Q	ENSP00000335384:E196Q	E	+	1	0	ZPBP2	35282228	0.990000	0.36364	0.781000	0.31783	0.348000	0.29142	1.655000	0.37345	0.487000	0.27698	-0.384000	0.06662	GAA	.		0.299	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		C	38028702	G	C	38028702	3	2	23	1	0	0	0	0	1	0	0	0	18268	943	33	5	604	5	ZPBP2	17	38028702	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	1537557	38028702	43166508	105	3121											
GSDMA	284110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38128427	38128427	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:38128427G>A	ENST00000301659.4	+	6	819	c.701G>A	c.(700-702)gGa>gAa	p.G234E		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	234					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TTCCCTCCTGGAGGTAAGTGA	0.502																																					p.G234E		.											.	.	.	0			c.G701A						.						44	42	43					17																	38128427		1839	4081	5920	SO:0001583	missense	284110	exon6			CTCCTGGAGGTAA	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.701G>A	17.37:g.38128427G>A	ENSP00000301659:p.Gly234Glu	43	0		40	8	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	G	4.600	0.111423	0.08831	.	.	ENSG00000167914	ENST00000301659	T	0.21031	2.03	5.87	1.31	0.21738	.	0.577092	0.15791	N	0.244422	T	0.06416	0.0165	N	0.03948	-0.315	0.33511	D	0.591197	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.02654	T	1	-2.373	6.272	0.20959	0.4524:0.0:0.5476:0.0	.	234	Q96QA5	GSDMA_HUMAN	E	234	ENSP00000301659:G234E	ENSP00000301659:G234E	G	+	2	0	GSDMA	35381953	0.984000	0.35163	0.879000	0.34478	0.935000	0.57460	0.579000	0.23788	0.417000	0.25871	0.655000	0.94253	GGA	.		0.502	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		A	38128427	G	A	38128427	3	1	23	1	0	0	0	0	1	0	0	0	6843	1174	41	3	719	3	GSDMA	17	38128427	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	99725	38128427	43066783	106	3122											
WIPF2	147179	hgsc.bcm.edu	37	17	38421061	38421061	+	Silent	SNP	G	G	A	rs534941527		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:38421061G>A	ENST00000323571.4	+	5	873	c.633G>A	c.(631-633)ccG>ccA	p.P211P	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Silent_p.P211P|WIPF2_ENST00000585043.1_Silent_p.P211P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	211					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCTTGCCACCGACGCCTGGAC	0.627										HNSCC(43;0.11)																											p.P211P		.											.	.	.	0			c.G633A						.						111	101	105					17																	38421061		2203	4300	6503	SO:0001819	synonymous_variant	147179	exon5			GCCACCGACGCCT	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.633G>A	17.37:g.38421061G>A		60	0		45	4	NM_133264	A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	CCDS11364.1																																																																																			.		0.627	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		A	38421061	G	A	38421061	2	1	23	1	0	0	0	0	0	0	0	1	17417	1045	37	1		1	WIPF2	17	38421061	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	292634	38421061	42774149	107	3123											
PLEKHH3	79990	broad.mit.edu	37	17	40823370	40823370	+	Splice_Site	SNP	T	T	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:40823370T>C	ENST00000591022.1	-	8	1670	c.1283A>G	c.(1282-1284)gAg>gGg	p.E428G	PLEKHH3_ENST00000412503.1_Splice_Site_p.E428G|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Splice_Site_p.E428G	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	428	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGCCTCACCTCCCCCGCCGT	0.642																																					p.E428G													.	PLEKHH3	49	0			c.A1283G						.						25	20	21					17																	40823370		2187	4266	6453	SO:0001630	splice_region_variant	79990	exon8			CTCACCTCCCCCG	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1284+1A>G	17.37:g.40823370T>C		88	12		81	13	NM_024927	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Splice_Site	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050924	0.93740	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	T;T	0.78364	-1.17;-1.17	4.99	4.99	0.66335	Band 4.1 domain (1);FERM domain (1);Ras-association (1);	0.000000	0.47093	D	0.000242	D	0.86838	0.6029	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88480	0.3068	10	0.87932	D	0	-18.4892	14.3907	0.66975	0.0:0.0:0.0:1.0	.	428;428	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	G	90;428;428	ENSP00000293349:E428G;ENSP00000411885:E428G	ENSP00000293349:E428G	E	-	2	0	PLEKHH3	38076896	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	6.156000	0.71840	1.895000	0.54865	0.459000	0.35465	GAG	.		0.642	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927	Missense_Mutation	C	40823370	T	C	40823370	5	2	23	1	0	0	0	0	0	0	1	0	12117	1565	54	4	1122	4	PLEKHH3	17	40823370	Splice_Site	SNP	T	TCGA-W5-AA38-01A-11D-A417-09	2402309	40823370	40371840	108	3124											
ENOSF1	55556	hgsc.bcm.edu	37	18	674365	674365	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:674365C>A	ENST00000251101.7	-	16	1360	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	ENOSF1_ENST00000319815.6_Missense_Mutation_p.K194N|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.K431N|ENOSF1_ENST00000580982.1_Missense_Mutation_p.K348N|ENOSF1_ENST00000383578.3_Missense_Mutation_p.K342N	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	424					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						ACTGGTGTTTCTTTACAGATT	0.393																																					p.K431N		.											.	.	.	0			c.G1293T						.						209	216	214					18																	674365		2203	4300	6503	SO:0001583	missense	55556	exon15			GTGTTTCTTTACA	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.1272G>T	18.37:g.674365C>A	ENSP00000251101:p.Lys424Asn	54	0		62	3	NM_202758	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804433	0.31869	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.3	4.42	0.53409	.	0.304968	0.35320	N	0.003287	T	0.34193	0.0889	L	0.41710	1.295	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.0;0.002	T	0.08889	-1.0700	10	0.19147	T	0.46	.	14.945	0.71023	0.0:0.856:0.144:0.0	.	431;243;455;424;342	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	N	342;194;424;431	ENSP00000373072:K342N;ENSP00000313346:K194N;ENSP00000251101:K424N;ENSP00000345974:K431N	ENSP00000251101:K424N	K	-	3	2	ENOSF1	664365	1.000000	0.71417	0.818000	0.32626	0.996000	0.88848	2.040000	0.41203	1.214000	0.43395	0.655000	0.94253	AAG	.		0.393	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		A	674365	C	A	674365	3	1	23	1	0	0	0	0	1	0	0	0	5141	912	32	3	63	3	ENOSF1	18	674365	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		674365	77402883	109	3125											
SLC39A6	25800	ucsc.edu	37	18	33702188	33702188	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:33702188T>C	ENST00000590986.1	-	5	1475	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V	SLC39A6_ENST00000440549.2_Missense_Mutation_p.M121V|SLC39A6_ENST00000269187.5_Missense_Mutation_p.M396V			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	396					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTCATTTCCATTGCTGGTTCT	0.393																																					p.M396V													.	SLC39A6	81	0			c.A1186G						.						185	173	177					18																	33702188		1911	4141	6052	SO:0001583	missense	25800	exon5			TTTCCATTGCTGG	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1186A>G	18.37:g.33702188T>C	ENSP00000465915:p.Met396Val	14	0		24	4	NM_012319	B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	T	7.763	0.705710	0.15172	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.45276	0.9;0.9	5.17	-0.0785	0.13714	.	1.832600	0.02444	N	0.084846	T	0.18173	0.0436	N	0.03608	-0.345	0.09310	N	1	B;B	0.16802	0.019;0.0	B;B	0.18871	0.023;0.002	T	0.14035	-1.0487	10	0.16896	T	0.51	-1.6836	1.6321	0.02734	0.1375:0.1734:0.141:0.5482	.	396;121	Q13433;Q13433-2	S39A6_HUMAN;.	V	396;121;121	ENSP00000269187:M396V;ENSP00000401139:M121V	ENSP00000269187:M396V	M	-	1	0	SLC39A6	31956186	0.003000	0.15002	0.900000	0.35374	0.991000	0.79684	-0.053000	0.11846	0.385000	0.24970	0.533000	0.62120	ATG	.		0.393	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			C	33702188	T	C	33702188	3	2	23	1	0	0	0	0	1	0	0	0	14667	1493	52	4	1117	4	SLC39A6	18	33702188	Missense_Mutation	SNP	T	TCGA-W5-AA38-01A-11D-A417-09	33027823	33702188	44375060	110	3126											
MOCOS	55034	broad.mit.edu	37	18	33767560	33767560	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:33767560G>A	ENST00000261326.5	+	1	79	c.58G>A	c.(58-60)Gac>Aac	p.D20N	RP11-49I11.1_ENST00000568654.1_RNA	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						GGGTTCCCGGGACCCGAGCGC	0.781																																					p.D20N													.	MOCOS	84	0			c.G58A						.						3	5	4					18																	33767560		1773	3550	5323	SO:0001583	missense	55034	exon1			TCCCGGGACCCGA	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.58G>A	18.37:g.33767560G>A	ENSP00000261326:p.Asp20Asn	31	0		31	8	NM_017947		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253167	0.59212	.	.	ENSG00000075643	ENST00000261326	T	0.16073	2.37	4.1	4.1	0.47936	.	0.816112	0.10986	N	0.612193	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.30482	0.281	B	0.24848	0.056	T	0.15492	-1.0435	10	0.30854	T	0.27	-9.0465	12.1061	0.53813	0.0:0.0:1.0:0.0	.	20	Q96EN8	MOCOS_HUMAN	N	20	ENSP00000261326:D20N	ENSP00000261326:D20N	D	+	1	0	MOCOS	32021558	0.090000	0.21635	0.006000	0.13384	0.009000	0.06853	3.962000	0.56766	2.559000	0.86315	0.491000	0.48974	GAC	.		0.781	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			A	33767560	G	A	33767560	3	1	23	1	0	0	0	0	1	0	0	0	9727	1174	41	3	60	3	MOCOS	18	33767560	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	65372	33767560	44309688	111	3127											
PSTPIP2	9050	hgsc.bcm.edu	37	18	43578790	43578790	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:43578790C>T	ENST00000409746.5	-	8	603	c.532G>A	c.(532-534)Gca>Aca	p.A178T	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.A178T	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	178						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A178T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTGAAGTTGCCAGTTTCACA	0.478																																					p.A178T		.											PSTPIP2,NS,carcinoma,0,1	PSTPIP2	0	1	Substitution - Missense(1)	ovary(1)	c.G532A						.						103	103	103					18																	43578790		2203	4300	6503	SO:0001583	missense	9050	exon8			AAGTTGCCAGTTT		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.532G>A	18.37:g.43578790C>T	ENSP00000387261:p.Ala178Thr	67	0		55	3	NM_024430		Missense_Mutation	SNP	ENST00000409746.5	37	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566606	0.86439	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.42900	0.96	5.36	5.36	0.76844	.	0.204155	0.43919	D	0.000508	T	0.58395	0.2119	M	0.79475	2.455	0.45261	D	0.99826	D;D	0.65815	0.981;0.995	P;P	0.55923	0.761;0.787	T	0.55842	-0.8077	10	0.15066	T	0.55	.	17.8464	0.88731	0.0:1.0:0.0:0.0	.	178;178	Q9H939-2;Q9H939	.;PPIP2_HUMAN	T	178	ENSP00000387261:A178T	ENSP00000353189:A178T	A	-	1	0	PSTPIP2	41832788	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.326000	0.59241	2.500000	0.84329	0.555000	0.69702	GCA	.		0.478	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			T	43578790	C	T	43578790	3	4	23	1	0	0	0	0	1	0	0	0	12764	739	26	3	500	3	PSTPIP2	18	43578790	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	9811230	43578790	34498458	112	3128											
PHLPP1	23239	hgsc.bcm.edu	37	18	60562374	60562374	+	Missense_Mutation	SNP	G	G	A	rs376292612		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:60562374G>A	ENST00000262719.5	+	5	2431	c.2197G>A	c.(2197-2199)Gtt>Att	p.V733I	PHLPP1_ENST00000400316.4_Missense_Mutation_p.V221I			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	733					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						CCCGGCAGCCGTTGGAGTGAT	0.537																																					p.V733I		.											PHLPP1_ENST00000262719,NS,carcinoma,0,6	PHLPP1_ENST00000262719	0	0			c.G2197A						.	G	ILE/VAL	1,3825		0,1,1912	51	50	50		2197	5.8	0.9	18		50	0,8244		0,0,4122	no	missense	PHLPP1	NM_194449.2	29	0,1,6034	AA,AG,GG		0.0,0.0261,0.0083	benign	733/1718	60562374	1,12069	1913	4122	6035	SO:0001583	missense	23239	exon5			GCAGCCGTTGGAG	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.2197G>A	18.37:g.60562374G>A	ENSP00000262719:p.Val733Ile	58	0		40	2	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297763	0.23650	2.61E-4	0.0	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.56444	0.46;0.46	5.81	5.81	0.92471	.	.	.	.	.	T	0.26629	0.0651	N	0.04746	-0.17	0.51767	D	0.999931	P	0.38992	0.653	B	0.26614	0.071	T	0.39014	-0.9634	9	0.02654	T	1	-18.3762	20.0831	0.97789	0.0:0.0:1.0:0.0	.	733	O60346	PHLP1_HUMAN	I	221;733	ENSP00000383170:V221I;ENSP00000262719:V733I	ENSP00000262719:V733I	V	+	1	0	PHLPP1	58713354	1.000000	0.71417	0.856000	0.33681	0.525000	0.34531	5.757000	0.68766	2.765000	0.95021	0.655000	0.94253	GTT	.		0.537	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		A	60562374	G	A	60562374	3	1	23	1	0	0	0	0	1	0	0	0	11893	1145	40	1	2215	1	PHLPP1	18	60562374	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	16983584	60562374	17514874	113	3129											
SERPINB13	5275	hgsc.bcm.edu	37	18	61260205	61260205	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:61260205G>T	ENST00000344731.5	+	5	574	c.472G>T	c.(472-474)Gaa>Taa	p.E158*	SERPINB13_ENST00000269489.5_Splice_Site_p.E158*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	158					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)	p.E158*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAAACAAATGGTAGAGTATG	0.363																																					p.E158X		.											SERPINB13,NS,carcinoma,0,1	SERPINB13	0	1	Substitution - Nonsense(1)	lung(1)	c.G472T						.						93	102	99					18																	61260205		2202	4300	6502	SO:0001630	splice_region_variant	5275	exon5			ACAAATGGTAGAG	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.472+1G>T	18.37:g.61260205G>T		49	0		40	2	NM_012397	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222472	0.95139	.	.	ENSG00000197641	ENST00000269489;ENST00000344731	.	.	.	5.63	5.63	0.86233	.	2.041630	0.01921	N	0.040503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0307	0.92955	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	.	E	+	1	0	SERPINB13	59411185	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.279000	0.65597	2.812000	0.96745	0.555000	0.69702	GAA	.		0.363	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	Nonsense_Mutation	T	61260205	G	T	61260205	5	4	23	1	0	0	0	0	0	0	1	0	14145	1362	47	3	486	3	SERPINB13	18	61260205	Splice_Site	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	697831	61260205	16817043	114	3130											
C18orf22	79863	hgsc.bcm.edu	37	18	77805954	77805954	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:77805954G>T	ENST00000306735.5	+	7	969	c.831G>T	c.(829-831)aaG>aaT	p.K277N	RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	277					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGATGAAAAAGGGAAGGAAGA	0.572																																					p.K277N		.											RBFA,colon,carcinoma,0,1	RBFA	0	0			c.G831T						.						74	76	75					18																	77805954		2203	4300	6503	SO:0001583	missense	79863	exon7			GAAAAAGGGAAGG	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.831G>T	18.37:g.77805954G>T	ENSP00000305696:p.Lys277Asn	23	0		19	2	NM_024805	Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907054	0.33628	.	.	ENSG00000101546	ENST00000306735	T	0.26067	1.76	4.66	3.78	0.43462	.	0.826906	0.10620	N	0.653493	T	0.25344	0.0616	L	0.54323	1.7	0.25760	N	0.984951	B	0.33073	0.396	B	0.29785	0.107	T	0.13045	-1.0524	10	0.48119	T	0.1	-8.2465	10.2915	0.43599	0.0958:0.0:0.9042:0.0	.	277	Q8N0V3	RBFA_HUMAN	N	277	ENSP00000305696:K277N	ENSP00000305696:K277N	K	+	3	2	RBFA	75906942	0.672000	0.27530	0.006000	0.13384	0.094000	0.18550	1.341000	0.33907	1.087000	0.41251	-0.253000	0.11424	AAG	.		0.572	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		T	77805954	G	T	77805954	3	4	23	1	0	0	0	0	1	0	0	0	1905	991	35	3	857	3	C18orf22	18	77805954	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	16545749	77805954	271294	115	3131											
TLE2	7089	hgsc.bcm.edu	37	19	3011031	3011031	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:3011031G>A	ENST00000262953.6	-	12	1263	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TLE2_ENST00000447365.2_Missense_Mutation_p.R43W|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.T335M|TLE2_ENST00000426948.2_Missense_Mutation_p.T348M|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000591529.1_Missense_Mutation_p.T348M|TLE2_ENST00000443826.3_Missense_Mutation_p.T212M|TLE2_ENST00000455444.2_Missense_Mutation_p.T212M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	334	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCTGTCCGTGGAAGGTGC	0.647																																					p.T348M		.											TLE2,colon,carcinoma,0,1	TLE2	0	0			c.C1043T						.						14	18	16					19																	3011031		2070	4207	6277	SO:0001583	missense	7089	exon13			CTGTCCGTGGAAG	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1001C>T	19.37:g.3011031G>A	ENSP00000262953:p.Thr334Met	59	0		42	2	NM_001144761	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	CCDS45911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944236|0.944236	0.18356|0.18356	.|.	.|.	ENSG00000065717|ENSG00000065717	ENST00000447365|ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T|T;T;T;T	0.58358|0.55413	0.34|0.64;0.52;0.52;0.87	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.231395	.|0.40554	.|N	.|0.001076	T|T	0.51278|0.51278	0.1665|0.1665	N|N	0.08118|0.08118	0|0	0.27957|0.27957	N|N	0.936925|0.936925	P|D;D;B;D;D	0.46987|0.89917	0.888|1.0;0.995;0.257;0.995;0.995	B|D;P;B;P;P	0.19391|0.80764	0.025|0.994;0.63;0.019;0.63;0.63	T|T	0.50215|0.50215	-0.8854|-0.8854	9|10	0.87932|0.44086	D|T	0|0.13	-11.1077|-11.1077	13.2567|13.2567	0.60083|0.60083	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	43|242;212;348;212;334	B4DE62|B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.|.;.;.;.;TLE2_HUMAN	W|M	43|334;212;328;212;348;242	ENSP00000406523:R43W|ENSP00000262953:T334M;ENSP00000413107:T212M;ENSP00000392427:T212M;ENSP00000392869:T348M	ENSP00000406523:R43W|ENSP00000262953:T334M	R|T	-|-	1|2	2|0	TLE2|TLE2	2962031|2962031	0.995000|0.995000	0.38212|0.38212	0.433000|0.433000	0.26760|0.26760	0.086000|0.086000	0.17979|0.17979	3.696000|3.696000	0.54757|0.54757	2.260000|2.260000	0.74910|0.74910	0.561000|0.561000	0.74099|0.74099	CGG|ACG	.		0.647	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		A	3011031	G	A	3011031	3	1	23	1	0	0	0	0	1	0	0	0	15986	1145	40	1	1266	1	TLE2	19	3011031	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		3011031	56117952	116	3132											
DNM2	1785	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	10941703	10941703	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:10941703G>A	ENST00000355667.6	+	21	2673	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K	DNM2_ENST00000389253.4_Missense_Mutation_p.E865K|DNM2_ENST00000359692.6_Missense_Mutation_p.E861K|DNM2_ENST00000585892.1_Missense_Mutation_p.E864K|DNM2_ENST00000314646.5_Missense_Mutation_p.E865K|DNM2_ENST00000408974.4_Missense_Mutation_p.E861K	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	865	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCGCCCAGCCGAGCCATCCCT	0.706			"F, N, Splice, Mis, O"		ETP ALL																																p.E865K		.		Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	.	0			c.G2593A						.						15	16	16					19																	10941703		2200	4293	6493	SO:0001583	missense	1785	exon21			CCAGCCGAGCCAT		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2593G>A	19.37:g.10941703G>A	ENSP00000347890:p.Glu865Lys	28	0		27	8	NM_001005361	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671525	0.88348	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.51817	0.69;0.69;0.69	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.66939	2.045	0.47123	D	0.999325	D;D;D;D;D	0.65815	0.992;0.992;0.995;0.992;0.992	P;P;D;P;P	0.68192	0.905;0.905;0.956;0.905;0.905	T	0.71083	-0.4695	10	0.87932	D	0	.	16.8243	0.85926	0.0:0.0:1.0:0.0	.	593;861;861;865;865	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	K	861;861;865;865;865	ENSP00000386192:E861K;ENSP00000373905:E865K;ENSP00000313164:E865K	ENSP00000313164:E865K	E	+	1	0	DNM2	10802703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.025000	0.93694	2.329000	0.79093	0.491000	0.48974	GAG	.		0.706	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		A	10941703	G	A	10941703	3	1	23	1	0	0	0	0	1	0	0	0	4686	1059	37	1	2818	1	DNM2	19	10941703	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	7930672	10941703	48187280	117	3133											
ZNF99	7652	hgsc.bcm.edu	37	19	22940945	22940945	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:22940945C>A	ENST00000596209.1	-	4	1856	c.1766G>T	c.(1765-1767)gGg>gTg	p.G589V	ZNF99_ENST00000397104.3_Missense_Mutation_p.G498V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	589					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)				GGGTTTCTCCCCAGTATGAAT	0.358																																					p.G589V		.											ZNF99,right_upper_lobe,carcinoma,0,2	ZNF99	0	0			c.G1766T						.						49	53	51					19																	22940945		2077	4237	6314	SO:0001583	missense	7652	exon4			TTCTCCCCAGTAT	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.1766G>T	19.37:g.22940945C>A	ENSP00000472969:p.Gly589Val	55	0		54	3	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	12.82	2.053589	0.36277	.	.	ENSG00000213973	ENST00000397104	T	0.01599	4.74	1.16	1.16	0.20824	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04679	0.0127	L	0.54908	1.71	0.58432	D	0.999997	D	0.62365	0.991	P	0.60345	0.873	T	0.48387	-0.9040	9	0.59425	D	0.04	.	6.2009	0.20575	0.2962:0.7038:0.0:0.0	.	498	A8MXY4	ZNF99_HUMAN	V	498	ENSP00000380293:G498V	ENSP00000380293:G498V	G	-	2	0	ZNF99	22732785	0.188000	0.23250	0.026000	0.17262	0.060000	0.15804	1.705000	0.37867	0.597000	0.29811	0.194000	0.17425	GGG	.		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		A	22940945	C	A	22940945	3	1	23	1	0	0	0	0	1	0	0	0	18252	623	22	3	1631	3	ZNF99	19	22940945	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	11999242	22940945	36188038	118	3134	14	2									
ZNF99	7652	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	22940952	22940952	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:22940952G>T	ENST00000596209.1	-	4	1849	c.1759C>A	c.(1759-1761)Cat>Aat	p.H587N	ZNF99_ENST00000397104.3_Missense_Mutation_p.H496N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	587					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)				TCCCCAGTATGAATTGCTTTA	0.358																																					p.H587N		.											.	.	.	0			c.C1759A						.						50	53	52					19																	22940952		2075	4234	6309	SO:0001583	missense	7652	exon4			CAGTATGAATTGC	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.1759C>A	19.37:g.22940952G>T	ENSP00000472969:p.His587Asn	52	0		53	5	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.725876	0.30593	.	.	ENSG00000213973	ENST00000397104	T	0.67345	-0.26	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83418	0.5250	M	0.93808	3.46	0.37450	D	0.914772	D	0.89917	1.0	D	0.91635	0.999	D	0.85527	0.1207	9	0.87932	D	0	.	9.2264	0.37410	0.0:0.0:1.0:0.0	.	496	A8MXY4	ZNF99_HUMAN	N	496	ENSP00000380293:H496N	ENSP00000380293:H496N	H	-	1	0	ZNF99	22732792	0.997000	0.39634	0.011000	0.14972	0.045000	0.14185	4.231000	0.58639	0.597000	0.29811	0.194000	0.17425	CAT	.		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		T	22940952	G	T	22940952	3	4	23	1	0	0	0	0	1	0	0	0	18252	1290	45	3	1638	3	ZNF99	19	22940952	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	7	22940952	36188031	119	3135	14	2									
ZNF527	84503	bcgsc.ca	37	19	37879999	37879999	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:37879999A>G	ENST00000436120.2	+	5	1155	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	350					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(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAACATCAGAGGATCCACAC	0.438																																					p.R350G													.	ZNF527	78	0			c.A1048G						.						80	85	84					19																	37879999		2196	4297	6493	SO:0001583	missense	84503	exon5			CATCAGAGGATCC	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1048A>G	19.37:g.37879999A>G	ENSP00000390179:p.Arg350Gly	27	0		14	3	NM_032453	B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094078	0.56075	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.97	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.246452	0.21061	N	0.080825	T	0.68851	0.3046	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.955	T	0.70004	-0.4991	9	0.72032	D	0.01	.	4.8171	0.13372	0.5307:0.365:0.1043:0.0	.	350;318	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	G	350;318;298	.	ENSP00000325231:R318G	R	+	1	2	ZNF527	42571839	0.000000	0.05858	0.997000	0.53966	0.993000	0.82548	-0.078000	0.11375	1.673000	0.50895	0.533000	0.62120	AGG	.		0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		G	37879999	A	G	37879999	3	3	23	1	0	0	0	0	1	0	0	0	18016	295	11	4	1062	4	ZNF527	19	37879999	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09	14939047	37879999	21248984	120	3136											
PSG5	5673	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	43674291	43674291	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:43674291C>T	ENST00000366175.3	-	5	1095		c.e5-1		PSG5_ENST00000342951.6_Splice_Site|PSG5_ENST00000407356.1_Splice_Site|PSG5_ENST00000407568.1_Splice_Site|PSG5_ENST00000599812.1_Splice_Site			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						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)				CCTGAAGGAGCTGTCATGGAA	0.423																																					.		.											.	.	.	0			c.965-1G>A						.						126	122	123					19																	43674291		2202	4295	6497	SO:0001630	splice_region_variant	5673	exon6			AAGGAGCTGTCAT		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.965-1G>A	19.37:g.43674291C>T		60	0		62	5	NM_002781	Q15239|Q96QJ1|Q9UQ75	Splice_Site	SNP	ENST00000366175.3	37	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	c	3.216	-0.160506	0.06502	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951	.	.	.	1.63	0.527	0.17084	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0084	0.09611	0.0:0.7639:0.0:0.2361	.	.	.	.	.	-1	.	.	.	-	.	.	PSG5	48366131	0.044000	0.20184	0.010000	0.14722	0.040000	0.13550	0.266000	0.18534	0.247000	0.21414	0.184000	0.17185	.	.		0.423	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	Intron	T	43674291	C	T	43674291	5	4	23	1	0	0	0	0	0	0	1	0	12700	811	28	3	47	3	PSG5	19	43674291	Splice_Site	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	5794292	43674291	15454692	121	3137											
ZNF480	147657	hgsc.bcm.edu	37	19	52825571	52825571	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:52825571G>T	ENST00000595962.1	+	5	1134	c.1068G>T	c.(1066-1068)gcG>gcT	p.A356A	ZNF480_ENST00000335090.6_Silent_p.A279A|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.A313A|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	356					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)		ATAGGATTGCGCTCCTTGTAC	0.383																																					p.A356A		.											ZNF480_ENST00000468240,NS,carcinoma,0,2	ZNF480_ENST00000468240	0	0			c.G1068T						.						57	61	60					19																	52825571		2203	4300	6503	SO:0001819	synonymous_variant	147657	exon5			GATTGCGCTCCTT	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.1068G>T	19.37:g.52825571G>T		39	0		41	2	NM_144684	Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	CCDS12850.2																																																																																			.		0.383	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		T	52825571	G	T	52825571	2	4	23	1	0	0	0	0	0	0	0	1	17983	1074	38	2		2	ZNF480	19	52825571	Silent	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	9151280	52825571	6303412	122	3138											
ZNF135	7694	hgsc.bcm.edu	37	19	58578438	58578438	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:58578438A>G	ENST00000313434.5	+	5	687	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	ZNF135_ENST00000506786.1_Missense_Mutation_p.R154G|ZNF135_ENST00000359978.6_Missense_Mutation_p.R208G|ZNF135_ENST00000439855.2_Missense_Mutation_p.R196G|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000401053.4_Missense_Mutation_p.R220G|ZNF135_ENST00000511556.1_Missense_Mutation_p.R208G	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	196					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)		ACGTGGAAAAAGGGAGAAGCC	0.458																																					p.R220G		.											ZNF135_ENST00000401053,right_upper_lobe,carcinoma,0,2	ZNF135_ENST00000401053	0	0			c.A658G						.						65	64	65					19																	58578438		2203	4300	6503	SO:0001583	missense	7694	exon4			GGAAAAAGGGAGA	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.586A>G	19.37:g.58578438A>G	ENSP00000321406:p.Arg196Gly	79	0		54	3	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	A	8.387	0.838946	0.16891	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.06294	3.42;3.49;3.43;3.43;3.43;3.32	2.94	2.94	0.34122	.	.	.	.	.	T	0.05960	0.0155	L	0.42245	1.32	0.09310	N	0.999991	B;B;B	0.23185	0.004;0.081;0.01	B;B;B	0.18263	0.003;0.021;0.004	T	0.28038	-1.0056	9	0.44086	T	0.13	.	4.798	0.13282	0.8599:0.0:0.1401:0.0	.	208;196;208	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	G	208;220;208;196;196;208;154	ENSP00000441410:R220G;ENSP00000369437:R208G;ENSP00000444828:R196G;ENSP00000321406:R196G;ENSP00000422074:R208G;ENSP00000427691:R154G	ENSP00000321406:R196G	R	+	1	2	ZNF135	63270250	.	.	0.003000	0.11579	0.052000	0.14988	.	.	1.609000	0.50190	0.374000	0.22700	AGG	.		0.458	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		G	58578438	A	G	58578438	3	3	23	1	0	0	0	0	1	0	0	0	17773	63	3	4	789	4	ZNF135	19	58578438	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09	5752867	58578438	550545	123	3139											
PSMF1	9491	hgsc.bcm.edu	37	20	1108090	1108090	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr20:1108090G>A	ENST00000335877.6	+	3	480	c.304G>A	c.(304-306)Gca>Aca	p.A102T	PSMF1_ENST00000381898.4_Missense_Mutation_p.A14T|PSMF1_ENST00000438768.2_Missense_Mutation_p.A102T|PSMF1_ENST00000333082.3_Missense_Mutation_p.A102T|PSMF1_ENST00000246015.4_Missense_Mutation_p.A102T	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	102	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						ACAGCAAGTGGCAGACTTGAC	0.448																																					p.A102T		.											PSMF1,caecum,carcinoma,0,1	PSMF1	0	0			c.G304A						.						133	135	135					20																	1108090		2203	4300	6503	SO:0001583	missense	9491	exon3			CAAGTGGCAGACT	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.304G>A	20.37:g.1108090G>A	ENSP00000338039:p.Ala102Thr	46	0		46	2	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743730	0.49151	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.64	2.47	0.30058	.	0.540417	0.19004	N	0.125249	T	0.17450	0.0419	N	0.11560	0.145	0.26849	N	0.968215	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.08055	0.002;0.001;0.003;0.002	T	0.24835	-1.0149	10	0.08599	T	0.76	-1.6252	4.6091	0.12392	0.2073:0.0:0.5546:0.2382	.	102;14;102;102	E7ER20;F5H4Z3;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	T	102;14;102;14;102;102;102	ENSP00000327704:A102T;ENSP00000371323:A14T;ENSP00000371324:A102T;ENSP00000246015:A102T;ENSP00000338039:A102T;ENSP00000401404:A102T	ENSP00000246015:A102T	A	+	1	0	PSMF1	1056090	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.827000	0.39102	0.340000	0.23745	0.650000	0.86243	GCA	.		0.448	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		A	1108090	G	A	1108090	3	1	23	1	0	0	0	0	1	0	0	0	12752	1203	42	3	314	3	PSMF1	20	1108090	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09		1108090	61917430	124	3140											
PLCG1	5335	broad.mit.edu	37	20	39793975	39793975	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr20:39793975G>A	ENST00000373271.1	+	14	1882	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	PLCG1_ENST00000373272.2_Missense_Mutation_p.G493S|PLCG1_ENST00000244007.3_Missense_Mutation_p.G493S	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	493	PH 2; first part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TATCAAGAATGGCATCCTCTA	0.582																																					p.G493S													.	PLCG1	111	0			c.G1477A						.						106	96	99					20																	39793975		2203	4300	6503	SO:0001583	missense	5335	exon14			AAGAATGGCATCC	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1477G>A	20.37:g.39793975G>A	ENSP00000362368:p.Gly493Ser	18	0		29	3	NM_182811	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589837	0.96590	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.75260	-0.92;-0.92;-0.92	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.79011	2.435	0.80722	D	1	D;D;D	0.63880	0.993;0.987;0.987	P;P;P	0.58873	0.84;0.847;0.696	D	0.86697	0.1927	10	0.72032	D	0.01	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	493;493;493	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	S	493	ENSP00000244007:G493S;ENSP00000362368:G493S;ENSP00000362369:G493S	ENSP00000244007:G493S	G	+	1	0	PLCG1	39227389	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.016000	0.93645	2.672000	0.90937	0.655000	0.94253	GGC	.		0.582	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39793975	G	A	39793975	3	1	23	1	0	0	0	0	1	0	0	0	12074	1348	47	3	1531	3	PLCG1	20	39793975	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	38685885	39793975	23231545	125	3141											
TTC3	7267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	38460547	38460547	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr21:38460547A>G	ENST00000399017.2	+	4	2986	c.239A>G	c.(238-240)gAt>gGt	p.D80G	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.D80G|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.D80G|TTC3_ENST00000354749.2_Missense_Mutation_p.D80G	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	80					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)				GTCCTGCAAGATTATTGCGAT	0.338																																					p.D80G	Ovarian(38;194 1649 35661)	.											.	.	.	0			c.A239G						.						84	75	78					21																	38460547		2203	4300	6503	SO:0001583	missense	7267	exon4			TGCAAGATTATTG	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.239A>G	21.37:g.38460547A>G	ENSP00000381981:p.Asp80Gly	27	0		32	10	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878199	0.51801	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.52295	2.5;0.67;2.5;2.81;2.81;2.81	4.82	4.82	0.62117	.	0.233723	0.29300	N	0.012558	T	0.45357	0.1338	L	0.56769	1.78	0.80722	D	1	B	0.18741	0.03	B	0.18561	0.022	T	0.47611	-0.9104	10	0.87932	D	0	-8.7404	12.1989	0.54313	1.0:0.0:0.0:0.0	.	80	P53804	TTC3_HUMAN	G	80	ENSP00000403943:D80G;ENSP00000408456:D80G;ENSP00000391891:D80G;ENSP00000347889:D80G;ENSP00000381981:D80G;ENSP00000346791:D80G	ENSP00000346791:D80G	D	+	2	0	TTC3	37382417	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.023000	0.64084	1.911000	0.55334	0.455000	0.32223	GAT	.		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			G	38460547	A	G	38460547	3	3	23	1	0	0	0	0	1	0	0	0	16746	333	12	4	249	4	TTC3	21	38460547	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09		38460547	9669348	126	3142											
CECR2	27443	hgsc.bcm.edu	37	22	18016909	18016909	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr22:18016909A>G	ENST00000400585.2	+	10	1175	c.737A>G	c.(736-738)aAg>aGg	p.K246R	CECR2_ENST00000342247.5_Missense_Mutation_p.K359R|CECR2_ENST00000400573.5_Missense_Mutation_p.K387R|CECR2_ENST00000262608.8_Missense_Mutation_p.K388R			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	429					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.K387R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGGAAAAAAAGACTAAAGAC	0.473																																					.		.											CECR2,NS,carcinoma,0,1	CECR2	0	1	Substitution - Missense(1)	ovary(1)	.						.						95	97	97					22																	18016909		1886	4106	5992	SO:0001583	missense	27443	p.K388R			AAAAAAAGACTAA	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.737A>G	22.37:g.18016909A>G	ENSP00000383428:p.Lys246Arg	81	0		54	3	.	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	A	6.439	0.449086	0.12223	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.33	3.16	0.36331	Bromodomain (1);	0.338021	0.25130	N	0.032905	T	0.04543	0.0124	N	0.00926	-1.1	0.28032	N	0.934099	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.39583	-0.9607	10	0.10636	T	0.68	-21.2464	7.936	0.29931	0.6602:0.0:0.3398:0.0	.	429;246;387	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	R	359;246;387;388	ENSP00000341219:K359R;ENSP00000383428:K246R;ENSP00000383417:K387R;ENSP00000262608:K388R	ENSP00000262608:K388R	K	+	2	0	CECR2	16396909	0.991000	0.36638	0.776000	0.31678	0.675000	0.39556	0.421000	0.21280	0.453000	0.26858	0.482000	0.46254	AAG	.		0.473	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		G	18016909	A	G	18016909	3	3	23	1	0	0	0	0	1	0	0	0	3213	72	3	4	1196	4	CECR2	22	18016909	Missense_Mutation	SNP	A	TCGA-W5-AA38-01A-11D-A417-09		18016909	33287657	127	3143											
EIF4ENIF1	56478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	31854517	31854517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr22:31854517C>A	ENST00000397525.1	-	7	1130	c.907G>T	c.(907-909)Gga>Tga	p.G303*	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Nonsense_Mutation_p.G140*|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.G303*|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.G303*|EIF4ENIF1_ENST00000382180.2_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	303						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						TCAAAGTCTCCTGGGGACTGC	0.493																																					p.G303X		.											.	.	.	0			c.G907T						.						85	75	78					22																	31854517		2203	4300	6503	SO:0001587	stop_gained	56478	exon7			AGTCTCCTGGGGA	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.907G>T	22.37:g.31854517C>A	ENSP00000380659:p.Gly303*	119	0		112	13	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Nonsense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	38	6.640339	0.97726	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.74	5.74	0.90152	.	0.051336	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-16.3918	18.906	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	X	140;303;303;303;303	.	ENSP00000328103:G303X	G	-	1	0	EIF4ENIF1	30184517	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.434000	0.66526	2.723000	0.93209	0.655000	0.94253	GGA	.		0.493	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		A	31854517	C	A	31854517	4	1	23	1	0	0	0	0	0	1	0	0	5051	690	24	3	2105	3	EIF4ENIF1	22	31854517	Nonsense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09	13837608	31854517	19450049	128	3144											
HUWE1	10075	hgsc.bcm.edu	37	X	53570921	53570921	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrX:53570921C>A	ENST00000342160.3	-	72	11717	c.11260G>T	c.(11260-11262)Ggt>Tgt	p.G3754C	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.G3754C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3754					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCCTAAACCGGAGGAACCT	0.527																																					p.G3754C		.											.	.	.	0			c.G11260T						.						36	26	29					X																	53570921		2203	4298	6501	SO:0001583	missense	10075	exon73			CTAAACCGGAGGA	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11260G>T	X.37:g.53570921C>A	ENSP00000340648:p.Gly3754Cys	68	0		73	3	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.976|8.976	0.974078|0.974078	0.18736|0.18736	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.39056|.	1.1;1.1|.	4.92|4.92	3.91|3.91	0.45181|0.45181	.|.	0.190771|.	0.43110|.	D|.	0.000619|.	T|T	0.37999|0.37999	0.1024|0.1024	N|N	0.19112|0.19112	0.55|0.55	0.43152|0.43152	D|D	0.994925|0.994925	D;P;P|.	0.65815|.	0.995;0.926;0.956|.	P;P;P|.	0.49708|.	0.62;0.453;0.531|.	T|T	0.16453|0.16453	-1.0402|-1.0402	10|5	0.54805|.	T|.	0.06|.	.|.	6.112|6.112	0.20106|0.20106	0.0:0.7152:0.0:0.2848|0.0:0.7152:0.0:0.2848	.|.	591;3754;3738|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	C|L	3754|2787;591	ENSP00000340648:G3754C;ENSP00000262854:G3754C|.	ENSP00000262854:G3754C|.	G|R	-|-	1|2	0|0	HUWE1|HUWE1	53587646|53587646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.841000|1.841000	0.39240|0.39240	2.046000|2.046000	0.60703|0.60703	0.411000|0.411000	0.27672|0.27672	GGT|CGG	.		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53570921	C	A	53570921	3	1	23	1	0	0	0	0	1	0	0	0	7488	652	23	2	1912	2	HUWE1	23	53570921	Missense_Mutation	SNP	C	TCGA-W5-AA38-01A-11D-A417-09		53570921	101699639	129	3145											
TCEAL2	140597	broad.mit.edu	37	X	101382096	101382096	+	Silent	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrX:101382096A>G	ENST00000372780.1	+	3	513	c.294A>G	c.(292-294)ggA>ggG	p.G98G	TCEAL2_ENST00000329035.2_Silent_p.G98G	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						agagagggggaagggcagagg	0.552																																					p.G98G													.	TCEAL2	27	0			c.A294G						.						56	67	63					X																	101382096		2201	4298	6499	SO:0001819	synonymous_variant	140597	exon3			AGGGGGAAGGGCA	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.294A>G	X.37:g.101382096A>G		41	0		50	3	NM_080390	B2R5C7	Silent	SNP	ENST00000372780.1	37	CCDS14496.1																																																																																			.		0.552	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		G	101382096	A	G	101382096	2	3	23	1	0	0	0	0	0	0	0	1	15718	233	9	4		4	TCEAL2	23	101382096	Silent	SNP	A	TCGA-W5-AA38-01A-11D-A417-09	47811175	101382096	53888464	130	3146											
MTM1	4534	hgsc.bcm.edu	37	X	149814336	149814336	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrX:149814336G>A	ENST00000370396.2	+	9	913	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	MTM1_ENST00000542741.1_Missense_Mutation_p.A192T|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.A172T|MTM1_ENST00000413012.2_Missense_Mutation_p.A250T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	287	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGTGGCCAACAAGGT	0.378																																					p.A287T		.											.	.	.	0			c.G859A						.						95	81	86					X																	149814336		2203	4300	6503	SO:0001583	missense	4534	exon9			GCAGTGGCCAACA	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.859G>A	X.37:g.149814336G>A	ENSP00000359423:p.Ala287Thr	49	0		45	3	NM_000252	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041720	0.75732	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.049572	0.85682	D	0.000000	D	0.93400	0.7895	M	0.64676	1.99	0.80722	D	1	P;B	0.41214	0.742;0.092	P;B	0.53689	0.732;0.191	D	0.91797	0.5448	10	0.33141	T	0.24	.	19.0341	0.92970	0.0:0.0:1.0:0.0	.	250;287	B7Z491;Q13496	.;MTM1_HUMAN	T	287;192;172;250	ENSP00000359423:A287T;ENSP00000444015:A192T;ENSP00000439784:A172T;ENSP00000389157:A250T	ENSP00000359423:A287T	A	+	1	0	MTM1	149564994	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.822000	0.99363	2.444000	0.82710	0.594000	0.82650	GCC	.		0.378	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		A	149814336	G	A	149814336	3	1	23	1	0	0	0	0	1	0	0	0	9975	1203	42	3	889	3	MTM1	23	149814336	Missense_Mutation	SNP	G	TCGA-W5-AA38-01A-11D-A417-09	48432240	149814336	5456224	131	3147											
ATAD3C	219293	broad.mit.edu	37	1	1389795	1389795	+	Missense_Mutation	SNP	A	A	T	rs1610766	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:1389795A>T	ENST00000378785.2	+	4	1288	c.293A>T	c.(292-294)tAc>tTc	p.Y98F		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	98							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)		ACTGGCCGCTACATCGAGGCT	0.682													N|||	4	0.000798722	0.003	0	5008	,	,		15291	0		0	False		,,,				2504	0				p.Y98F													.	ATAD3C	23	0			c.A293T						.						25	46	40					1																	1389795		692	1591	2283	SO:0001583	missense	219293	exon4			GCCGCTACATCGA	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.293A>T	1.37:g.1389795A>T	ENSP00000368062:p.Tyr98Phe	57	0		43	9	NM_001039211	Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	3.552	-0.091432	0.07053	.	.	ENSG00000215915	ENST00000378785	D	0.94758	-3.51	2.47	1.27	0.21489	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.355383	0.30193	N	0.010200	D	0.87684	0.6239	L	0.28115	0.83	0.40679	D	0.982285	B	0.17667	0.023	B	0.22880	0.042	T	0.74548	-0.3629	10	0.26408	T	0.33	.	7.4476	0.27219	0.8022:0.0:0.0:0.1978	rs1610766	98	Q5T2N8	ATD3C_HUMAN	F	98	ENSP00000368062:Y98F	ENSP00000368062:Y98F	Y	+	2	0	ATAD3C	1379658	1.000000	0.71417	0.016000	0.15963	0.003000	0.03518	4.072000	0.57563	-0.303000	0.08856	-1.645000	0.00762	TAC	.		0.682	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1389795	A	T	1389795	3	4	24	1	0	0	0	0	1	0	0	0	1076	391	14	5	307	5	ATAD3C	1	1389795	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09		1389795	247860826	1	3148											
ATAD3C	219293	hgsc.bcm.edu	37	1	1398007	1398007	+	Silent	SNP	C	C	T	rs373872196		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:1398007C>T	ENST00000378785.2	+	11	2003	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	336							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)		AGTTTGACTACGGGAGGAAGT	0.637																																					p.Y336Y		.											ATAD3C,colon,carcinoma,0,1	ATAD3C	0	0			c.C1008T						.	C		0,4402		0,0,2201	54	53	53		1008	-4.9	0.1	1		53	1,8577		0,1,4288	no	coding-synonymous	ATAD3C	NM_001039211.2		0,1,6489	TT,TC,CC		0.0117,0.0,0.0077		336/412	1398007	1,12979	2201	4289	6490	SO:0001819	synonymous_variant	219293	exon11			TGACTACGGGAGG	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.1008C>T	1.37:g.1398007C>T		88	0		48	2	NM_001039211	Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																			.		0.637	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1398007	C	T	1398007	2	4	24	1	0	0	0	0	0	0	0	1	1076	547	19	1		1	ATAD3C	1	1398007	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	8212	1398007	247852614	2	3149											
ATAD3B	83858	hgsc.bcm.edu	37	1	1417592	1417592	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:1417592G>A	ENST00000308647.7	+	6	705	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ATAD3B_ENST00000378741.3_Missense_Mutation_p.A29T|ATAD3B_ENST00000378736.3_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	197						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)		CCGGGCGCGCGCCAAGGCCGA	0.657																																					p.A197T		.											ATAD3B_ENST00000378741,NS,carcinoma,0,2	ATAD3B_ENST00000378741	0	0			c.G589A						.						30	34	33					1																	1417592		2202	4295	6497	SO:0001583	missense	83858	exon6			GCGCGCGCCAAGG	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.589G>A	1.37:g.1417592G>A	ENSP00000311766:p.Ala197Thr	68	0		53	3	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	11.43	1.635807	0.29068	.	.	ENSG00000160072	ENST00000378741;ENST00000378737;ENST00000308647;ENST00000378736	T	0.17370	2.28	2.38	1.45	0.22620	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.113072	0.64402	N	0.000016	T	0.26593	0.0650	M	0.85777	2.775	0.53005	D	0.999965	B;B;P	0.35411	0.087;0.208;0.5	B;B;B	0.41466	0.044;0.11;0.358	T	0.03112	-1.1071	10	0.46703	T	0.11	.	8.5026	0.33168	0.1237:0.0:0.8763:0.0	.	151;118;197	Q5T9A4-3;G3V1I6;Q5T9A4	.;.;ATD3B_HUMAN	T	29;12;197;29	ENSP00000311766:A197T	ENSP00000311766:A197T	A	+	1	0	ATAD3B	1407455	1.000000	0.71417	0.944000	0.38274	0.024000	0.10985	7.271000	0.78506	0.343000	0.23821	-1.111000	0.02071	GCC	.		0.657	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		A	1417592	G	A	1417592	3	1	24	1	0	0	0	0	1	0	0	0	1075	1087	38	1	611	1	ATAD3B	1	1417592	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	19585	1417592	247833029	3	3150											
C1orf174	339448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	3807598	3807598	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:3807598T>G	ENST00000361605.3	-	3	251	c.153A>C	c.(151-153)acA>acC	p.T51T	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	51						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)		TTCGCGTGTCTGTGGCTTTGT	0.423																																					p.T51T		.											.	.	.	0			c.A153C						.						88	100	96					1																	3807598		2201	4295	6496	SO:0001819	synonymous_variant	339448	exon3			CGTGTCTGTGGCT	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.153A>C	1.37:g.3807598T>G		73	0		42	17	NM_207356	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	CCDS53.1																																																																																			.		0.423	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		G	3807598	T	G	3807598	2	3	24	1	0	0	0	0	0	0	0	1	2022	1567	55	4		4	C1orf174	1	3807598	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2390006	3807598	245443023	4	3151											
KCNAB2	8514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	6101927	6101927	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:6101927T>G	ENST00000164247.1	+	3	678	c.114T>G	c.(112-114)ttT>ttG	p.F38L	AL035406.1_ENST00000594544.1_5'Flank|KCNAB2_ENST00000378087.3_Missense_Mutation_p.F38L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.F38L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.F38L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.F38L|KCNAB2_ENST00000378092.1_Intron|KCNAB2_ENST00000378111.1_Missense_Mutation_p.F38L|KCNAB2_ENST00000352527.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	38					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCCAGTTTTACAGGTAAT	0.527											OREG0013028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F38L		.											.	.	.	0			c.T114G						.						97	98	98					1																	6101927		2203	4300	6503	SO:0001583	missense	8514	exon3			CCAGTTTTACAGG	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.114T>G	1.37:g.6101927T>G	ENSP00000164247:p.Phe38Leu	158	0	631	35	24	NM_001199860	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	CCDS55.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742997	0.30865	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000445501;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000164247	T;T;T;T;T;T	0.42513	1.02;3.62;3.2;0.97;3.62;3.62	4.84	4.84	0.62591	.	.	.	.	.	T	0.20780	0.0500	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08994	-1.0695	9	0.20046	T	0.44	.	8.2645	0.31806	0.0:0.1002:0.0:0.8998	.	38;38	Q13303;Q2YD85	KCAB2_HUMAN;.	L	38	ENSP00000367351:F38L;ENSP00000367337:F38L;ENSP00000374283:F38L;ENSP00000367327:F38L;ENSP00000340824:F38L;ENSP00000164247:F38L	ENSP00000164247:F38L	F	+	3	2	KCNAB2	6024514	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.347000	0.44036	1.824000	0.53156	0.383000	0.25322	TTT	.		0.527	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		G	6101927	T	G	6101927	3	3	24	1	0	0	0	0	1	0	0	0	8037	1838	64	4	120	4	KCNAB2	1	6101927	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2294329	6101927	243148694	5	3152											
ESPN	83715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	6511978	6511978	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:6511978T>G	ENST00000377828.1	+	10	2315	c.2147T>G	c.(2146-2148)cTc>cGc	p.L716R	ESPN_ENST00000416731.1_Missense_Mutation_p.L150R|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.L150R	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	716	Pro-rich.				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)		CAGCCGCTGCTCAATGGAAGC	0.677																																					p.L716R		.											.	.	.	0			c.T2147G						.						19	21	20					1																	6511978		2200	4300	6500	SO:0001583	missense	83715	exon10			CGCTGCTCAATGG	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.2147T>G	1.37:g.6511978T>G	ENSP00000367059:p.Leu716Arg	78	0		23	18	NM_031475	Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842223	0.32513	.	.	ENSG00000187017	ENST00000377828;ENST00000416731	T;D	0.84442	-0.38;-1.85	5.14	5.14	0.70334	.	0.378748	0.27151	N	0.020688	D	0.88396	0.6425	L	0.40543	1.245	0.32805	D	0.500669	D;D	0.89917	1.0;0.973	D;P	0.91635	0.999;0.8	D	0.89717	0.3916	10	0.37606	T	0.19	-24.8726	13.774	0.63041	0.0:0.0:0.0:1.0	.	150;716	B1AK53-2;B1AK53	.;ESPN_HUMAN	R	716;150	ENSP00000367059:L716R;ENSP00000399239:L150R	ENSP00000367059:L716R	L	+	2	0	ESPN	6434565	0.197000	0.23362	1.000000	0.80357	0.240000	0.25518	1.584000	0.36589	1.943000	0.56356	0.402000	0.26972	CTC	.		0.677	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		G	6511978	T	G	6511978	3	3	24	1	0	0	0	0	1	0	0	0	5270	1551	54	4	2185	4	ESPN	1	6511978	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	410051	6511978	242738643	6	3153											
KIF1B	23095	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	10327609	10327609	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:10327609A>G	ENST00000377086.1	+	6	803	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	KIF1B_ENST00000377083.1_Missense_Mutation_p.K201E|KIF1B_ENST00000263934.6_Missense_Mutation_p.K201E|KIF1B_ENST00000377093.4_Missense_Mutation_p.K201E|KIF1B_ENST00000377081.1_Missense_Mutation_p.K201E			O60333	KIF1B_HUMAN	kinesin family member 1B	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		TGCTGGGAACAAAGCCAGGTA	0.463																																					p.K201E		.											.	.	.	0			c.A601G						.						90	71	78					1																	10327609		2203	4300	6503	SO:0001583	missense	23095	exon6			GGGAACAAAGCCA	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.601A>G	1.37:g.10327609A>G	ENSP00000366290:p.Lys201Glu	63	0		19	12	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	A	28.2	4.903607	0.92035	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.2	5.2	0.72013	Kinesin, motor domain (4);	0.105145	0.64402	D	0.000004	D	0.85647	0.5745	M	0.75777	2.31	0.80722	D	1	D;D;D;D;P;P;P	0.76494	0.999;0.999;0.997;0.998;0.553;0.939;0.92	D;D;D;D;B;P;P	0.91635	0.998;0.999;0.978;0.998;0.405;0.751;0.866	D	0.87587	0.2488	10	0.87932	D	0	.	15.3528	0.74402	1.0:0.0:0.0:0.0	.	201;201;201;201;201;201;201	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	E	201	ENSP00000263934:K201E;ENSP00000366297:K201E;ENSP00000366290:K201E;ENSP00000366287:K201E;ENSP00000366284:K201E	ENSP00000263934:K201E	K	+	1	0	KIF1B	10250196	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.098000	0.63641	0.477000	0.44152	AAA	.		0.463	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			G	10327609	A	G	10327609	3	3	24	1	0	0	0	0	1	0	0	0	8311	131	5	4	619	4	KIF1B	1	10327609	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3815631	10327609	238923012	7	3154	15	2									
KIF1B	23095	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	10327615	10327615	+	Splice_Site	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:10327615A>T	ENST00000377086.1	+	6	809	c.607A>T	c.(607-609)Agg>Tgg	p.R203W	KIF1B_ENST00000377083.1_Splice_Site_p.R203W|KIF1B_ENST00000263934.6_Splice_Site_p.R203W|KIF1B_ENST00000377093.4_Splice_Site_p.R203W|KIF1B_ENST00000377081.1_Splice_Site_p.R203W			O60333	KIF1B_HUMAN	kinesin family member 1B	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		GAACAAAGCCAGGTATGGTAG	0.453																																					p.R203W		.											.	.	.	0			c.A607T						.						85	67	73					1																	10327615		2203	4300	6503	SO:0001630	splice_region_variant	23095	exon6			AAAGCCAGGTATG	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.608+1A>T	1.37:g.10327615A>T		54	0		20	12	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	A	31	5.069790	0.93950	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.44	5.44	0.79542	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	H	0.99951	5.03	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98281	1.0508	10	0.87932	D	0	.	15.7836	0.78286	1.0:0.0:0.0:0.0	.	203;203;203;203;203;203;203	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	W	203	ENSP00000263934:R203W;ENSP00000366297:R203W;ENSP00000366290:R203W;ENSP00000366287:R203W;ENSP00000366284:R203W	ENSP00000263934:R203W	R	+	1	2	KIF1B	10250202	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.459000	0.80802	2.190000	0.69967	0.477000	0.44152	AGG	.		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		Missense_Mutation	T	10327615	A	T	10327615	5	4	24	1	0	0	0	0	0	0	1	0	8311	202	7	5	625	5	KIF1B	1	10327615	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6	10327615	238923006	8	3155	15	2									
FBXO6	26270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	11733376	11733376	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:11733376A>C	ENST00000376753.4	+	5	687	c.552A>C	c.(550-552)aaA>aaC	p.K184N		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	184	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	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;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAACTCAAAGTGCAGCTGG	0.622																																					p.K184N	NSCLC(54;506 1562 46490 51389)	.											.	.	.	0			c.A552C						.						70	60	64					1																	11733376		2203	4300	6503	SO:0001583	missense	26270	exon5			ACTCAAAGTGCAG	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.552A>C	1.37:g.11733376A>C	ENSP00000365944:p.Lys184Asn	43	0		17	11	NM_018438	B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	CCDS133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.971|0.971	-0.700314|-0.700314	0.03279|0.03279	.|.	.|.	ENSG00000116663|ENSG00000116663	ENST00000376753|ENST00000449067	T|T	0.28666|0.27890	1.6|1.64	5.69|5.69	-11.4|-11.4	0.00090|0.00090	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);|.	1.040950|1.040950	0.07480|0.07480	N|N	0.903676|0.903676	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	0.999991|0.999991	P|.	0.38195|.	0.622|.	B|.	0.42245|.	0.381|.	T|T	0.13202|0.13202	-1.0518|-1.0518	10|8	0.15499|0.13108	T|T	0.54|0.6	.|.	0.4713|0.4713	0.00532|0.00532	0.3536:0.2149:0.2155:0.216|0.3536:0.2149:0.2155:0.216	.|.	184|.	Q9NRD1|.	FBX6_HUMAN|.	N|T	184|140	ENSP00000365944:K184N|ENSP00000388781:K140T	ENSP00000365944:K184N|ENSP00000388781:K140T	K|K	+|+	3|2	2|0	FBXO6|FBXO6	11655963|11655963	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-3.614000|-3.614000	0.00414|0.00414	-2.980000|-2.980000	0.00283|0.00283	-1.342000|-1.342000	0.01247|0.01247	AAA|AAG	.		0.622	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		C	11733376	A	C	11733376	3	2	24	1	0	0	0	0	1	0	0	0	5781	69	3	4	566	4	FBXO6	1	11733376	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1405761	11733376	237517245	9	3156											
DNAJC16	23341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	15855658	15855658	+	Silent	SNP	C	C	T	rs370972086	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:15855658C>T	ENST00000375847.3	+	2	222	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	DNAJC16_ENST00000375849.1_Silent_p.L20L|DNAJC16_ENST00000375838.1_Silent_p.L20L|CASP9_ENST00000469637.1_5'Flank	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	20					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		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)		GGTTCTGATCCTGCAAATTCT	0.448													C|||	2	0.000399361	0	0	5008	,	,		17330	0.002		0	False		,,,				2504	0				p.L20L		.											.	.	.	0			c.C58T						.						160	151	154					1																	15855658		2203	4300	6503	SO:0001819	synonymous_variant	23341	exon2			CTGATCCTGCAAA	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.58C>T	1.37:g.15855658C>T		106	0		81	34	NM_015291	Q68D57|Q86X32|Q8N5P4	Silent	SNP	ENST00000375847.3	37	CCDS30606.1																																																																																			.		0.448	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		T	15855658	C	T	15855658	2	4	24	1	0	0	0	0	0	0	0	1	4649	680	24	3		3	DNAJC16	1	15855658	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4122282	15855658	233394963	10	3157											
TAS1R2	80834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	19166611	19166611	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:19166611C>T	ENST00000375371.3	-	6	2023	c.2002G>A	c.(2002-2004)Gcc>Acc	p.A668T		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	668					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)	TAGCTGTAGGCGCGTGGGAAG	0.567																																					p.A668T		.											TAS1R2,caecum,carcinoma,0,1	TAS1R2	0	0			c.G2002A						.						132	141	138					1																	19166611		2203	4300	6503	SO:0001583	missense	80834	exon6			TGTAGGCGCGTGG		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.2002G>A	1.37:g.19166611C>T	ENSP00000364520:p.Ala668Thr	35	0		42	19	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856063	0.51376	.	.	ENSG00000179002	ENST00000375371	D	0.88046	-2.33	5.22	5.22	0.72569	GPCR, family 3, C-terminal (2);	0.138235	0.32687	N	0.005767	D	0.92688	0.7676	M	0.83953	2.67	0.41111	D	0.985741	D	0.76494	0.999	D	0.71870	0.975	D	0.91194	0.4986	10	0.22109	T	0.4	.	14.2737	0.66166	0.0:1.0:0.0:0.0	.	668	Q8TE23	TS1R2_HUMAN	T	668	ENSP00000364520:A668T	ENSP00000364520:A668T	A	-	1	0	TAS1R2	19039198	0.084000	0.21492	0.745000	0.31077	0.640000	0.38277	0.904000	0.28491	2.438000	0.82558	0.561000	0.74099	GCC	.		0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19166611	C	T	19166611	3	4	24	1	0	0	0	0	1	0	0	0	15610	768	27	1	521	1	TAS1R2	1	19166611	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3310953	19166611	230084010	11	3158											
MRTO4	51154	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	19584345	19584345	+	Silent	SNP	A	A	G	rs140351482		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:19584345A>G	ENST00000330263.4	+	6	657	c.360A>G	c.(358-360)acA>acG	p.T120T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	120					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)		CGAAATACACAGAAATGGACT	0.577																																					p.T120T	GBM(192;2418 3032 7540 48714)	.											.	.	.	0			c.A360G						.						78	79	79					1																	19584345		2203	4300	6503	SO:0001819	synonymous_variant	51154	exon6			ATACACAGAAATG	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.360A>G	1.37:g.19584345A>G		55	0		28	7	NM_016183	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	ENST00000330263.4	37	CCDS191.1																																																																																			.		0.577	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		G	19584345	A	G	19584345	2	3	24	1	0	0	0	0	0	0	0	1	9890	175	7	4		4	MRTO4	1	19584345	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	417734	19584345	229666276	12	3159											
AKR7L	246181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	19597309	19597309	+	RNA	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:19597309A>G	ENST00000429712.1	-	0	454				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						AGGTGCATGTAGATAGAAGAG	0.612																																					.		.											.	.	.	0			.						.						59	55	56					1																	19597309		2203	4300	6503			246181	.			GCATGTAGATAGA			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597309A>G		47	0		27	10	.	Q5U614	RNA	SNP	ENST00000429712.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.15|15.15	2.747611|2.747611	0.49257|0.49257	.|.	.|.	ENSG00000211454|ENSG00000211454	ENST00000429712;ENST00000388886|ENST00000457194	.|.	.|.	.|.	4.1|4.1	4.1|4.1	0.47936|0.47936	NADP-dependent oxidoreductase domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63438|0.63438	0.2511|0.2511	.|.	.|.	.|.	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	0.62562|0.62562	-0.6828|-0.6828	8|4	0.87932|.	D|.	0|.	.|.	12.3303|12.3303	0.55035|0.55035	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	112;112|.	F8W7D9;Q8NHP1|.	.;ARK74_HUMAN|.	P|H	112|68	.|.	ENSP00000373538:L112P|.	L|Y	-|-	2|1	0|0	AKR7L|AKR7L	19469896|19469896	1.000000|1.000000	0.71417|0.71417	0.160000|0.160000	0.22671|0.22671	0.176000|0.176000	0.22953|0.22953	8.431000|8.431000	0.90285|0.90285	1.855000|1.855000	0.53841|0.53841	0.455000|0.455000	0.32223|0.32223	CTA|TAC	.		0.612	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		G	19597309	A	G	19597309	1	3	24	0	1	0	0	0	0	0	0	0	477	420	15	4		4	AKR7L	1	19597309	RNA	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	12964	19597309	229653312	13	3160											
PDIK1L	149420	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	26448622	26448622	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:26448622A>C	ENST00000374271.4	+	4	867	c.580A>C	c.(580-582)Agt>Cgt	p.S194R	PDIK1L_ENST00000374269.1_Missense_Mutation_p.S194R	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGGTCTAAGTAAAGTTTG	0.448																																					p.S194R		.											.	.	.	0			c.A580C						.						112	109	110					1																	26448622		2203	4300	6503	SO:0001583	missense	149420	exon3			GGTCTAAGTAAAG	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.580A>C	1.37:g.26448622A>C	ENSP00000363389:p.Ser194Arg	43	0		22	14	NM_001243532	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	CCDS274.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902196	0.72754	.	.	ENSG00000175087	ENST00000374271;ENST00000374269	T;T	0.28454	1.61;1.61	5.81	5.81	0.92471	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	0.63534	0.2519	M	0.90425	3.115	0.44462	D	0.99739	D	0.76494	0.999	D	0.81914	0.995	T	0.71258	-0.4646	9	.	.	.	-15.5587	15.8235	0.78678	1.0:0.0:0.0:0.0	.	194	Q8N165	PDK1L_HUMAN	R	194	ENSP00000363389:S194R;ENSP00000363387:S194R	.	S	+	1	0	PDIK1L	26321209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.219000	0.72066	0.533000	0.62120	AGT	.		0.448	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		C	26448622	A	C	26448622	3	2	24	1	0	0	0	0	1	0	0	0	11712	72	3	4	586	4	PDIK1L	1	26448622	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6851313	26448622	222801999	14	3161											
PUM1	9698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	31437697	31437697	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:31437697A>C	ENST00000257075.5	-	14	2240	c.2147T>G	c.(2146-2148)cTt>cGt	p.L716R	PUM1_ENST00000440538.2_Missense_Mutation_p.L690R|PUM1_ENST00000423018.2_Missense_Mutation_p.L572R|PUM1_ENST00000424085.2_Missense_Mutation_p.L474R|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000373742.2_Missense_Mutation_p.L657R|PUM1_ENST00000373747.3_Missense_Mutation_p.L717R|PUM1_ENST00000426105.2_Missense_Mutation_p.L716R|PUM1_ENST00000373741.4_Missense_Mutation_p.L752R	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	716	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCTCTTATAAAGGTCACTGCT	0.512																																					p.L716R		.											.	.	.	0			c.T2147G						.						83	85	84					1																	31437697		2203	4300	6503	SO:0001583	missense	9698	exon14			TTATAAAGGTCAC	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2147T>G	1.37:g.31437697A>C	ENSP00000257075:p.Leu716Arg	68	0		66	32	NM_014676	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362747	0.61403	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	T;T;T;T;T;T;T;T	0.20463	2.14;2.07;2.34;2.34;2.42;2.33;2.46;2.08	5.54	4.38	0.52667	.	0.122285	0.64402	D	0.000020	T	0.33933	0.0880	L	0.48642	1.525	0.58432	D	0.999992	D;D;P;D;P;B;P	0.69078	0.985;0.995;0.865;0.997;0.716;0.159;0.716	P;D;B;D;P;B;P	0.69479	0.783;0.922;0.397;0.964;0.602;0.224;0.501	T	0.03503	-1.1030	10	0.18710	T	0.47	-3.1937	11.7192	0.51672	0.8675:0.0:0.0:0.1324	.	657;572;752;690;716;716;716	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.	R	474;716;717;454;716;690;752;572;657	ENSP00000400141:L474R;ENSP00000257075:L716R;ENSP00000362852:L717R;ENSP00000391723:L716R;ENSP00000401777:L690R;ENSP00000362846:L752R;ENSP00000399440:L572R;ENSP00000362847:L657R	ENSP00000257075:L716R	L	-	2	0	PUM1	31210284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.880000	0.63107	0.900000	0.36469	0.533000	0.62120	CTT	.		0.512	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			C	31437697	A	C	31437697	3	2	24	1	0	0	0	0	1	0	0	0	12870	72	3	4	1455	4	PUM1	1	31437697	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4989075	31437697	217812924	15	3162	16	2									
PUM1	9698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	31437700	31437700	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:31437700T>C	ENST00000257075.5	-	14	2237	c.2144A>G	c.(2143-2145)gAc>gGc	p.D715G	PUM1_ENST00000440538.2_Missense_Mutation_p.D689G|PUM1_ENST00000423018.2_Missense_Mutation_p.D571G|PUM1_ENST00000424085.2_Missense_Mutation_p.D473G|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000373742.2_Missense_Mutation_p.D656G|PUM1_ENST00000373747.3_Missense_Mutation_p.D716G|PUM1_ENST00000426105.2_Missense_Mutation_p.D715G|PUM1_ENST00000373741.4_Missense_Mutation_p.D751G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	715	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CTTATAAAGGTCACTGCTGCC	0.507																																					p.D715G		.											.	.	.	0			c.A2144G						.						80	83	82					1																	31437700		2203	4300	6503	SO:0001583	missense	9698	exon14			TAAAGGTCACTGC	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2144A>G	1.37:g.31437700T>C	ENSP00000257075:p.Asp715Gly	69	0		65	34	NM_014676	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.012615|4.012615	0.75161|0.75161	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000498419	T;T;T;T;T;T;T;T|.	0.20738|.	2.11;2.05;2.32;2.31;2.4;2.31;2.4;2.05|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.085177|.	0.85682|.	D|.	0.000000|.	T|.	0.62998|.	0.2474|.	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;P;P;D;D;B;D|.	0.60160|.	0.987;0.949;0.935;0.97;0.987;0.264;0.987|.	P;P;P;P;P;B;P|.	0.55345|.	0.759;0.599;0.599;0.774;0.759;0.074;0.759|.	T|.	0.60362|.	-0.7278|.	10|.	0.33141|.	T|.	0.24|.	-5.2391|-5.2391	15.6674|15.6674	0.77242|0.77242	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	656;571;751;689;715;715;715|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.|.	G|W	473;715;716;453;715;689;751;571;656|426	ENSP00000400141:D473G;ENSP00000257075:D715G;ENSP00000362852:D716G;ENSP00000391723:D715G;ENSP00000401777:D689G;ENSP00000362846:D751G;ENSP00000399440:D571G;ENSP00000362847:D656G|.	ENSP00000257075:D715G|.	D|X	-|-	2|3	0|0	PUM1|PUM1	31210287|31210287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.035000|8.035000	0.88872|0.88872	2.116000|2.116000	0.64780|0.64780	0.533000|0.533000	0.62120|0.62120	GAC|TGA	.		0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			C	31437700	T	C	31437700	3	2	24	1	0	0	0	0	1	0	0	0	12870	1667	58	4	1458	4	PUM1	1	31437700	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3	31437700	217812921	16	3163	16	2									
TMEM39B	55116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	32560448	32560448	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:32560448T>G	ENST00000336294.5	+	7	1137	c.991T>G	c.(991-993)Tcc>Gcc	p.S331A	TMEM39B_ENST00000427288.1_Missense_Mutation_p.S216A|TMEM39B_ENST00000373634.4_Missense_Mutation_p.S132A|TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	331						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)				CATCAGCACCTCCGTGATCCT	0.607																																					p.S331A		.											.	.	.	0			c.T991G						.						106	92	97					1																	32560448		2203	4300	6503	SO:0001583	missense	55116	exon7			AGCACCTCCGTGA	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.991T>G	1.37:g.32560448T>G	ENSP00000338165:p.Ser331Ala	13	0		22	8	NM_018056	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	T	16.65	3.181629	0.57800	.	.	ENSG00000121775	ENST00000336294;ENST00000373634;ENST00000427288	.	.	.	4.59	4.59	0.56863	.	0.181218	0.49916	D	0.000123	T	0.68165	0.2971	L	0.57536	1.79	0.54753	D	0.999986	P;D;P	0.60160	0.737;0.987;0.737	B;P;B	0.61592	0.396;0.891;0.396	T	0.66826	-0.5825	9	0.33141	T	0.24	-1.6818	14.4184	0.67165	0.0:0.0:0.0:1.0	.	331;216;204	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	A	331;132;216	.	ENSP00000338165:S331A	S	+	1	0	TMEM39B	32333035	1.000000	0.71417	0.665000	0.29768	0.849000	0.48306	7.382000	0.79729	2.048000	0.60808	0.533000	0.62120	TCC	.		0.607	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		G	32560448	T	G	32560448	3	3	24	1	0	0	0	0	1	0	0	0	16209	1551	54	4	1017	4	TMEM39B	1	32560448	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1122748	32560448	216690173	17	3164											
RNF19B	127544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	33409664	33409664	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:33409664T>G	ENST00000373456.7	-	6	1360	c.1361A>C	c.(1360-1362)aAa>aCa	p.K454T	RNF19B_ENST00000356990.5_Missense_Mutation_p.K453T|RNF19B_ENST00000235150.4_Missense_Mutation_p.K453T	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	454					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTCACTCCTTTTCCGTTGGC	0.403																																					p.K454T		.											.	.	.	0			c.A1361C						.						103	93	96					1																	33409664		2203	4300	6503	SO:0001583	missense	127544	exon6			ACTCCTTTTCCGT	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1361A>C	1.37:g.33409664T>G	ENSP00000362555:p.Lys454Thr	62	0		46	22	NM_153341	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	CCDS372.2	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751549	0.49257	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.33438	1.41;1.45;1.41	5.5	5.5	0.81552	.	0.048336	0.85682	D	0.000000	T	0.43456	0.1248	L	0.35854	1.095	0.36642	D	0.876918	D;D;P	0.59767	0.986;0.958;0.82	D;P;B	0.63703	0.917;0.613;0.328	T	0.49899	-0.8890	10	0.51188	T	0.08	.	14.4879	0.67629	0.0:0.0:0.0:1.0	.	453;454;453	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	T	454;453;453;352	ENSP00000362555:K454T;ENSP00000349482:K453T;ENSP00000235150:K453T	ENSP00000235150:K453T	K	-	2	0	RNF19B	33182251	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	3.062000	0.49971	2.216000	0.71823	0.533000	0.62120	AAA	.		0.403	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		G	33409664	T	G	33409664	3	3	24	1	0	0	0	0	1	0	0	0	13516	1841	64	4	879	4	RNF19B	1	33409664	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	849216	33409664	215840957	18	3165											
CSMD2	114784	hgsc.bcm.edu	37	1	34285407	34285407	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:34285407C>T	ENST00000373381.4	-	9	1407	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	371	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)				TCATAGCCCTCGTTGCAGGTG	0.607																																					p.E371K		.											CSMD2_ENST00000373381,NS,malignant_melanoma,0,4	CSMD2_ENST00000373381	0	0			c.G1111A						.						92	84	87					1																	34285407		2203	4300	6503	SO:0001583	missense	114784	exon9			AGCCCTCGTTGCA	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	ENST00000373381.4:c.1231G>A	1.37:g.34285407C>T	ENSP00000362479:p.Glu411Lys	60	0		43	2	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	34	5.312322	0.95655	.	.	ENSG00000121904	ENST00000373381	T	0.66815	-0.23	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	L	0.56124	1.755	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.61328	0.887;0.709	T	0.74355	-0.3692	10	0.37606	T	0.19	.	18.8196	0.92090	0.0:1.0:0.0:0.0	.	371;411	Q7Z408;E7EUA6	CSMD2_HUMAN;.	K	411	ENSP00000362479:E411K	ENSP00000241312:E371K	E	-	1	0	CSMD2	34057994	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.793000	0.85851	2.675000	0.91044	0.655000	0.94253	GAG	.		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34285407	C	T	34285407	3	4	24	1	0	0	0	0	1	0	0	0	3954	893	31	1	9596	1	CSMD2	1	34285407	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	875743	34285407	214965214	19	3166											
KIAA0319L	79932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	36020083	36020083	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:36020083T>C	ENST00000325722.3	-	2	244	c.10A>G	c.(10-12)Agg>Ggg	p.R4G	NCDN_ENST00000373253.3_5'Flank	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	4						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)				ACTCCCAGCCTCTTCTCCATG	0.428																																					p.R4G		.											.	.	.	0			c.A10G						.						70	70	70					1																	36020083		2203	4300	6503	SO:0001583	missense	79932	exon2			CCAGCCTCTTCTC	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.10A>G	1.37:g.36020083T>C	ENSP00000318406:p.Arg4Gly	76	0		47	21	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542869	0.45280	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892;ENST00000494948	T;T;T;T;T	0.56103	3.01;3.0;2.43;1.11;0.48	5.32	1.54	0.23209	.	0.391150	0.24220	N	0.040450	T	0.32164	0.0820	N	0.14661	0.345	0.21579	N	0.999639	B;B;B	0.30068	0.253;0.267;0.02	B;B;B	0.31337	0.128;0.04;0.027	T	0.19192	-1.0313	10	0.54805	T	0.06	0.0276	7.6546	0.28369	0.0:0.0748:0.2631:0.6622	.	4;4;4	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	G	4	ENSP00000318406:R4G;ENSP00000395883:R4G;ENSP00000407576:R4G;ENSP00000362355:R4G;ENSP00000419396:R4G	ENSP00000318406:R4G	R	-	1	2	KIAA0319L	35792670	0.994000	0.37717	0.158000	0.22627	0.836000	0.47400	1.416000	0.34759	0.038000	0.15604	-1.871000	0.00553	AGG	.		0.428	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		C	36020083	T	C	36020083	3	2	24	1	0	0	0	0	1	0	0	0	8196	1550	54	4	3219	4	KIAA0319L	1	36020083	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1734676	36020083	213230538	20	3167											
EIF2C3	192669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	36506015	36506015	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:36506015A>C	ENST00000373191.4	+	16	2494	c.2145A>C	c.(2143-2145)cgA>cgC	p.R715R	AGO3_ENST00000246314.6_Silent_p.R481R	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	715	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)										ATCACACTCGATTATTTTGTG	0.378																																					p.R715R		.											.	.	.	0			c.A2145C						.						136	127	130					1																	36506015		2202	4300	6502	SO:0001819	synonymous_variant	192669	exon16			CACTCGATTATTT	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.2145A>C	1.37:g.36506015A>C		59	0		45	17	NM_024852	B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	CCDS399.1																																																																																			.		0.378	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		C	36506015	A	C	36506015	2	2	24	1	0	0	0	0	0	0	0	1	5021	320	12	4		4	EIF2C3	1	36506015	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	485932	36506015	212744606	21	3168											
COL8A2	1296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	36565701	36565701	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:36565701T>C	ENST00000397799.1	-	3	367	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	COL8A2_ENST00000481785.1_Intron|COL8A2_ENST00000303143.4_Missense_Mutation_p.Q48R			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	48	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|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)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGTCCTTTCTGCATGGGCTG	0.672											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q48R		.											.	.	.	0			c.A143G						.						67	64	65					1																	36565701		2203	4300	6503	SO:0001583	missense	1296	exon1			CCTTTCTGCATGG	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.143A>G	1.37:g.36565701T>C	ENSP00000380901:p.Gln48Arg	70	0	863	55	17	NM_005202	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169481	0.38315	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000373172	D;D	0.90844	-2.74;-2.74	4.37	1.73	0.24493	.	0.258372	0.36519	N	0.002552	T	0.78717	0.4327	N	0.20845	0.615	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.64769	-0.6329	10	0.10902	T	0.67	.	7.2843	0.26328	0.5291:0.0:0.0:0.4709	.	48	P25067	CO8A2_HUMAN	R	48	ENSP00000305913:Q48R;ENSP00000380901:Q48R	ENSP00000305913:Q48R	Q	-	2	0	COL8A2	36338288	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.659000	0.54489	0.674000	0.31244	0.402000	0.26972	CAG	.		0.672	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		C	36565701	T	C	36565701	3	2	24	1	0	0	0	0	1	0	0	0	3713	1580	55	4	1976	4	COL8A2	1	36565701	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	59686	36565701	212684920	22	3169											
THRAP3	9967	broad.mit.edu;bcgsc.ca	37	1	36759444	36759456	+	Splice_Site	DEL	AATTTTAGGAGAA	AATTTTAGGAGAA	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:36759444_36759456delAATTTTAGGAGAA	ENST00000354618.5	+	8	2254_2259	c.2030_2035delAATTTTAGGAGAA	c.(2029-2037)aaattttag>aag	p.F*678fs	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Splice_Site_p.F*678fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	678	Required for mRNA decay activity.				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)				TTGTATTTTCAATTTTAGGAGAATAGACATTTC	0.357			T	USP6	aneurysmal bone cysts																																p.677_679del	Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	THRAP3	93	0			c.2031_2035del						.																																			SO:0001630	splice_region_variant	9967	exon8			ATTTTCAATTTTA	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.2031-1AATTTTAGGAGAA>-	1.37:g.36759444_36759456delAATTTTAGGAGAA		101	0		39	7	NM_005119	D3DPS5|Q5VTK6	Splice_Site	DEL	ENST00000354618.5	37	CCDS405.1																																																																																			.		0.357	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	Frame_Shift_Del	-	36759456	AATTTTAGGAGAA	-	36759444	8	5	24	1	0	1	0	1	0	0	1	0	15921	145	5	0		0	THRAP3	1	36759444	Splice_Site	DEL	AATTTTAGGAGAA	TCGA-W5-AA39-01A-11D-A417-09	193743	36759444	212491177	23	3170											
SF3A3	10946	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	38444662	38444662	+	Silent	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:38444662G>C	ENST00000373019.4	-	10	1780	c.825C>G	c.(823-825)ggC>ggG	p.G275G	SF3A3_ENST00000448721.2_Silent_p.G222G|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	275					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)				TTCCTTACCCGCCACATTTCA	0.368																																					p.G275G		.											.	.	.	0			c.C825G						.						57	64	62					1																	38444662		2203	4300	6503	SO:0001819	synonymous_variant	10946	exon10			TTACCCGCCACAT	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.825C>G	1.37:g.38444662G>C		104	0		63	28	NM_006802	D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	CCDS428.1																																																																																			.		0.368	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		C	38444662	G	C	38444662	2	2	24	1	0	0	0	0	0	0	0	1	14193	1074	38	5		5	SF3A3	1	38444662	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1685218	38444662	210805959	24	3171											
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	39879568	39879568	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:39879568A>T	ENST00000530275.1	+	1	3418	c.3223A>T	c.(3223-3225)Acc>Tcc	p.T1075S	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1075	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)			TATGGTGGCCACCCTAGAGGA	0.642																																					p.T1211S		.											.	.	.	0			c.A3631T						.						14	17	16					1																	39879568		1938	4145	6083	SO:0001583	missense	643314	exon1			GTGGCCACCCTAG			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.3223A>T	1.37:g.39879568A>T	ENSP00000431179:p.Thr1075Ser	45	0		42	10	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	A	10.91	1.483824	0.26598	.	.	ENSG00000255103	ENST00000530275	T	0.25749	1.78	3.36	0.609	0.17575	.	.	.	.	.	T	0.09949	0.0244	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.36768	-0.9734	9	0.02654	T	1	.	3.1095	0.06353	0.6091:0.0:0.1248:0.2661	.	1075	O94854	K0754_HUMAN	S	1075	ENSP00000431179:T1075S	ENSP00000431179:T1075S	T	+	1	0	RP4-562N20.1	39652155	0.000000	0.05858	0.019000	0.16419	0.059000	0.15707	-0.580000	0.05827	0.068000	0.16574	0.155000	0.16302	ACC	.		0.642	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39879568	A	T	39879568	3	4	24	1	0	0	0	0	1	0	0	0	8219	159	6	5	3633	5	KIAA0754	1	39879568	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1434906	39879568	209371053	25	3172	17	2									
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	39879575	39879575	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:39879575A>T	ENST00000530275.1	+	1	3425	c.3230A>T	c.(3229-3231)gAg>gTg	p.E1077V	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1077	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)			GCCACCCTAGAGGAATTCACT	0.637																																					p.E1213V		.											.	.	.	0			c.A3638T						.						14	16	16					1																	39879575		1945	4154	6099	SO:0001583	missense	643314	exon1			CCCTAGAGGAATT			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.3230A>T	1.37:g.39879575A>T	ENSP00000431179:p.Glu1077Val	46	0		40	9	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	A	11.81	1.750148	0.30955	.	.	ENSG00000255103	ENST00000530275	T	0.25749	1.78	3.21	-6.41	0.01938	.	.	.	.	.	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.25847	-1.0120	9	0.44086	T	0.13	.	4.168	0.10315	0.2864:0.0:0.4162:0.2973	.	1077	O94854	K0754_HUMAN	V	1077	ENSP00000431179:E1077V	ENSP00000431179:E1077V	E	+	2	0	RP4-562N20.1	39652162	0.011000	0.17503	0.000000	0.03702	0.053000	0.15095	-0.160000	0.10041	-1.407000	0.02043	0.155000	0.16302	GAG	.		0.637	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39879575	A	T	39879575	3	4	24	1	0	0	0	0	1	0	0	0	8219	304	11	5	3640	5	KIAA0754	1	39879575	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7	39879575	209371046	26	3173	17	2									
MFSD2A	84879	broad.mit.edu	37	1	40431616	40431616	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:40431616A>G	ENST00000372809.5	+	6	826	c.683A>G	c.(682-684)gAc>gGc	p.D228G	MFSD2A_ENST00000420632.2_Missense_Mutation_p.D59G|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.D215G	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	228					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTTTCCAGGACCTCAATAGC	0.577																																					p.D228G													.	MFSD2A	53	0			c.A683G						.						126	99	108					1																	40431616		2203	4300	6503	SO:0001583	missense	84879	exon6			TCCAGGACCTCAA	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.683A>G	1.37:g.40431616A>G	ENSP00000361895:p.Asp228Gly	25	0		16	3	NM_001136493	A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	A	8.021	0.759723	0.15846	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000434861;ENST00000372809	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.94	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);	0.895788	0.10030	N	0.724829	T	0.70202	0.3197	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.005;0.006;0.003	T	0.56974	-0.7890	10	0.23891	T	0.37	-1.4567	6.1585	0.20350	0.7434:0.0:0.1354:0.1212	.	178;228;215	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	G	215;59;213;228	ENSP00000361898:D215G;ENSP00000391261:D59G;ENSP00000407606:D213G;ENSP00000361895:D228G	ENSP00000361895:D228G	D	+	2	0	MFSD2A	40204203	0.343000	0.24818	0.067000	0.19924	0.692000	0.40212	0.751000	0.26348	0.476000	0.27440	0.460000	0.39030	GAC	.		0.577	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		G	40431616	A	G	40431616	3	3	24	1	0	0	0	0	1	0	0	0	9568	275	10	4	705	4	MFSD2A	1	40431616	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	552041	40431616	208819005	27	3174											
IPO13	9670	hgsc.bcm.edu	37	1	44423802	44423803	+	In_Frame_Ins	INS	-	-	TGC			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:44423802_44423803insTGC	ENST00000372343.3	+	8	2356_2357	c.1694_1695insTGC	c.(1693-1698)tatgct>taTGCtgct	p.567_568insA		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	567					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)				CTGCCTCCCTATGCTGCCAACA	0.55																																					p.Y565delinsYA		.											.	.	.	0			c.1694_1695insTGC						.																																			SO:0001652	inframe_insertion	9670	exon8			CTCCCTATGCTGC	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.1698_1700dupTGC	1.37:g.44423806_44423808dupTGC	ENSP00000361418:p.Ala567_Ala567dup	27	0		30	10	NM_014652	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	In_Frame_Ins	INS	ENST00000372343.3	37	CCDS503.1																																																																																			.		0.55	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		TGC	44423803	-	TGC	44423802	7	5	24	1	0	1	1	0	0	0	0	0	7821	449	16	0	1724	0	IPO13	1	44423802	In_Frame_Ins	INS	-	TCGA-W5-AA39-01A-11D-A417-09	3992186	44423802	204826819	28	3175											
UROD	7389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	45478646	45478646	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:45478646T>G	ENST00000246337.4	+	2	207	c.88T>G	c.(88-90)Tac>Gac	p.Y30D	HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	30					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGAAACAGACTACACTCCCGT	0.547									Porphyria Cutanea Tarda, Type II																												p.Y30D		.											.	.	.	0			c.T88G						.						54	50	52					1																	45478646		2203	4300	6503	SO:0001583	missense	7389	exon2	Familial Cancer Database	PCT-II	ACAGACTACACTC	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.88T>G	1.37:g.45478646T>G	ENSP00000246337:p.Tyr30Asp	72	0		26	11	NM_000374	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	CCDS518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.90|15.90	2.968361|2.968361	0.53614|0.53614	.|.	.|.	ENSG00000126088|ENSG00000126088	ENST00000428106|ENST00000246337;ENST00000434478;ENST00000372135;ENST00000372139	.|D;D	.|0.94376	.|-3.34;-3.41	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Uroporphyrinogen decarboxylase (URO-D) (1);	.|0.100341	.|0.64402	.|D	.|0.000002	D|D	0.95427|0.95427	0.8515|0.8515	M|M	0.78285|0.78285	2.405|2.405	0.40573|0.40573	D|D	0.981325|0.981325	.|D;P	.|0.58970	.|0.984;0.853	.|P;P	.|0.62184	.|0.899;0.791	D|D	0.95294|0.95294	0.8397|0.8397	5|10	.|0.52906	.|T	.|0.07	-10.9656|-10.9656	8.5313|8.5313	0.33335|0.33335	0.0:0.1458:0.0:0.8542|0.0:0.1458:0.0:0.8542	.|.	.|30;30	.|B4DHV6;P06132	.|.;DCUP_HUMAN	R|D	23|30;30;30;23	.|ENSP00000246337:Y30D;ENSP00000404489:Y30D	.|ENSP00000246337:Y30D	L|Y	+|+	2|1	0|0	UROD|UROD	45251233|45251233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.597000|2.597000	0.46214|0.46214	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CTA|TAC	.		0.547	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		G	45478646	T	G	45478646	3	3	24	1	0	0	0	0	1	0	0	0	17078	1522	53	4	94	4	UROD	1	45478646	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1054844	45478646	203771975	29	3176											
PRDX1	5052	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	45984678	45984687	+	Frame_Shift_Del	DEL	GGGGCAGGGT	GGGGCAGGGT	-	rs11544934		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GGGGCAGGGT	GGGGCAGGGT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:45984678_45984687delGGGGCAGGGT	ENST00000262746.1	-	2	368_377	c.29_38delACCCTGCCCC	c.(28-39)caccctgcccccfs	p.HPAP10fs	PRDX1_ENST00000372079.1_Frame_Shift_Del_p.HPAP10fs|PRDX1_ENST00000319248.8_Frame_Shift_Del_p.HPAP10fs|PRDX1_ENST00000483583.1_5'UTR	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	10	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TTTGAAGTTGGGGGCAGGGTGCCCAATTTT	0.414																																					p.10_13del		.											.	.	.	0			c.30_39del						.																																			SO:0001589	frameshift_variant	5052	exon2			AAGTTGGGGGCAG	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.29_38delACCCTGCCCC	1.37:g.45984678_45984687delGGGGCAGGGT	ENSP00000262746:p.His10fs	100	0		49	10	NM_181696	B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Frame_Shift_Del	DEL	ENST00000262746.1	37	CCDS522.1																																																																																			.		0.414	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		-	45984687	GGGGCAGGGT	-	45984678	7	5	24	1	0	1	0	1	0	0	0	0	12506	1232	43	0	581	0	PRDX1	1	45984678	Frame_Shift_Del	DEL	GGGGCAGGGT	TCGA-W5-AA39-01A-11D-A417-09	506032	45984678	203265943	30	3177											
TTC39A	22996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	51754561	51754561	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:51754561A>G	ENST00000447632.2	-	17	1716	c.1668T>C	c.(1666-1668)ctT>ctC	p.L556L	TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000530004.1_Silent_p.L164L|TTC39A_ENST00000451380.1_Silent_p.L520L|TTC39A_ENST00000413473.2_Silent_p.L524L|TTC39A_ENST00000262675.7_Silent_p.L493L|TTC39A_ENST00000371750.5_Silent_p.L521L			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	556								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						CTTGCTCCATAAGCAGCAGGG	0.493																																					p.L524L		.											.	.	.	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)	c.T1572C						.						61	62	62					1																	51754561		1910	4127	6037	SO:0001819	synonymous_variant	22996	exon17			CTCCATAAGCAGC	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.1668T>C	1.37:g.51754561A>G		54	0		21	10	NM_001144832	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	ENST00000447632.2	37																																																																																				.		0.493	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			G	51754561	A	G	51754561	2	3	24	1	0	0	0	0	0	0	0	1	16756	349	13	4		4	TTC39A	1	51754561	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5769883	51754561	197496060	31	3178											
ZFYVE9	9372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	52732339	52732339	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:52732339A>G	ENST00000371591.1	+	5	2422	c.2291A>G	c.(2290-2292)gAg>gGg	p.E764G	ZFYVE9_ENST00000357206.2_Intron|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E764G	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	764					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						CAAGCCTGGGAGAACATGATG	0.448																																					p.E764G		.											.	.	.	0			c.A2291G						.						158	144	149					1																	52732339		2203	4300	6503	SO:0001583	missense	9372	exon6			CCTGGGAGAACAT	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.2291A>G	1.37:g.52732339A>G	ENSP00000360647:p.Glu764Gly	61	0		60	18	NM_004799	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803913	0.70682	.	.	ENSG00000157077	ENST00000287727;ENST00000371591	T;T	0.42900	0.96;0.96	5.45	5.45	0.79879	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	T	0.54351	0.1853	L	0.33485	1.01	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.58405	-0.7642	10	0.87932	D	0	.	15.5095	0.75769	1.0:0.0:0.0:0.0	.	764	O95405	ZFYV9_HUMAN	G	764	ENSP00000287727:E764G;ENSP00000360647:E764G	ENSP00000287727:E764G	E	+	2	0	ZFYVE9	52504927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.830000	0.92063	2.065000	0.61736	0.496000	0.49642	GAG	.		0.448	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		G	52732339	A	G	52732339	3	3	24	1	0	0	0	0	1	0	0	0	17719	304	11	4	2316	4	ZFYVE9	1	52732339	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	977778	52732339	196518282	32	3179											
ZFYVE9	9372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	52732359	52732359	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:52732359A>C	ENST00000371591.1	+	5	2442	c.2311A>C	c.(2311-2313)Agc>Cgc	p.S771R	ZFYVE9_ENST00000357206.2_Intron|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S771R	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	771	SBD.				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						GAGTGCCTCAAGCCAGAGCCC	0.483																																					p.S771R		.											.	.	.	0			c.A2311C						.						171	155	160					1																	52732359		2203	4300	6503	SO:0001583	missense	9372	exon6			GCCTCAAGCCAGA	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.2311A>C	1.37:g.52732359A>C	ENSP00000360647:p.Ser771Arg	69	0		57	19	NM_004799	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092358	0.55968	.	.	ENSG00000157077	ENST00000287727;ENST00000371591	T;T	0.39787	1.06;1.06	5.25	5.25	0.73442	Smad anchor for receptor activation, Smad-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.178892	0.47455	D	0.000232	T	0.34919	0.0914	N	0.03608	-0.345	0.39922	D	0.974163	D	0.58970	0.984	D	0.63192	0.912	T	0.39231	-0.9624	10	0.33940	T	0.23	.	9.6481	0.39881	0.9222:0.0:0.0778:0.0	.	771	O95405	ZFYV9_HUMAN	R	771	ENSP00000287727:S771R;ENSP00000360647:S771R	ENSP00000287727:S771R	S	+	1	0	ZFYVE9	52504947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.122000	0.71608	1.975000	0.57531	0.533000	0.62120	AGC	.		0.483	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		C	52732359	A	C	52732359	3	2	24	1	0	0	0	0	1	0	0	0	17719	72	3	4	2336	4	ZFYVE9	1	52732359	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	20	52732359	196518262	33	3180											
C1orf175	374977	hgsc.bcm.edu	37	1	55168304	55168304	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:55168304G>A	ENST00000421030.2	+	21	3735	c.3450G>A	c.(3448-3450)gtG>gtA	p.V1150V	MROH7_ENST00000454855.2_Silent_p.V668V|MROH7_ENST00000409996.1_Silent_p.V718V|MROH7-TTC4_ENST00000414150.2_Silent_p.V1150V	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1150						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGAAGTGTGTGAAGACCCTGT	0.443																																					p.V1150V		.											.	.	.	0			c.G3450A						.						109	105	106					1																	55168304		1893	4125	6018	SO:0001819	synonymous_variant	374977	exon21			GTGTGTGAAGACC	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.3450G>A	1.37:g.55168304G>A		71	0		50	4	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																			.		0.443	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		A	55168304	G	A	55168304	2	1	24	1	0	0	0	0	0	0	0	1	2023	1277	45	3		3	C1orf175	1	55168304	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2435945	55168304	194082317	34	3181											
HOOK1	51361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	60330334	60330334	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:60330334C>T	ENST00000371208.3	+	17	1914	c.1657C>T	c.(1657-1659)Cat>Tat	p.H553Y	HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Missense_Mutation_p.H511Y	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	553	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)	p.H553N(1)		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)					GTTGGAAGCTCATATGTAAGT	0.318																																					p.H553Y		.											.	.	.	1	Substitution - Missense(1)	lung(1)	c.C1657T						.						63	74	70					1																	60330334		2203	4299	6502	SO:0001583	missense	51361	exon17			GAAGCTCATATGT	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.1657C>T	1.37:g.60330334C>T	ENSP00000360252:p.His553Tyr	144	0		97	38	NM_015888	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081949	0.76528	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.20463	2.07;2.07	5.83	5.83	0.93111	.	0.045329	0.85682	D	0.000000	T	0.45256	0.1333	M	0.79123	2.44	0.54753	D	0.999988	D	0.76494	0.999	D	0.74023	0.982	T	0.41787	-0.9489	10	0.02654	T	1	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	553	Q9UJC3	HOOK1_HUMAN	Y	553;511	ENSP00000360252:H553Y;ENSP00000378928:H511Y	ENSP00000360252:H553Y	H	+	1	0	HOOK1	60102922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.077000	0.71275	2.770000	0.95276	0.655000	0.94253	CAT	.		0.318	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		T	60330334	C	T	60330334	3	4	24	1	0	0	0	0	1	0	0	0	7309	826	29	3	1723	3	HOOK1	1	60330334	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5162030	60330334	188920287	35	3182											
ANKRD13C	81573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	70779446	70779446	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:70779446A>T	ENST00000370944.4	-	5	1004	c.691T>A	c.(691-693)Tgg>Agg	p.W231R	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.W196R	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	231					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						TGAAAATCCCAGTGAAGTTCT	0.284																																					p.W231R		.											.	.	.	0			c.T691A						.						74	83	80					1																	70779446		2202	4289	6491	SO:0001583	missense	81573	exon5			AATCCCAGTGAAG		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.691T>A	1.37:g.70779446A>T	ENSP00000359982:p.Trp231Arg	99	0		55	24	NM_030816	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	CCDS648.2	.	.	.	.	.	.	.	.	.	.	A	19.66	3.869372	0.72065	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.60920	0.27;0.15	5.43	5.43	0.79202	Ankyrin repeat-containing domain (1);	0.115026	0.64402	D	0.000005	T	0.73110	0.3545	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.79082	-0.1949	10	0.87932	D	0	.	13.7018	0.62613	1.0:0.0:0.0:0.0	.	196;231	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	R	231;196	ENSP00000359982:W231R;ENSP00000262346:W196R	ENSP00000262346:W196R	W	-	1	0	ANKRD13C	70552034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.251000	0.78297	2.056000	0.61249	0.482000	0.46254	TGG	.		0.284	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		T	70779446	A	T	70779446	3	4	24	1	0	0	0	0	1	0	0	0	643	188	7	5	970	5	ANKRD13C	1	70779446	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	10449112	70779446	178471175	36	3183											
COL24A1	255631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	86591498	86591498	+	Missense_Mutation	SNP	C	C	G	rs368053899|rs36031173		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:86591498C>G	ENST00000370571.2	-	3	887	c.521G>C	c.(520-522)aGt>aCt	p.S174T	COL24A1_ENST00000436319.1_Missense_Mutation_p.S174T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	174	Laminin G-like.				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)		CATTGAGACACTTTGGTTTCT	0.358																																					p.S174T		.											.	.	.	0			c.G521C						.						58	53	55					1																	86591498		1846	4086	5932	SO:0001583	missense	255631	exon3			GAGACACTTTGGT	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.521G>C	1.37:g.86591498C>G	ENSP00000359603:p.Ser174Thr	33	0		12	12	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.436689	0.01108	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.19250	2.16;2.16	5.82	-2.09	0.07232	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	2.008790	0.02887	N	0.133601	T	0.01387	0.0045	N	0.02830	-0.485	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.002	T	0.20907	-1.0261	10	0.02654	T	1	.	1.8197	0.03108	0.2369:0.2915:0.3347:0.1369	.	174;174	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	174	ENSP00000359603:S174T;ENSP00000392531:S174T	ENSP00000359603:S174T	S	-	2	0	COL24A1	86364086	0.000000	0.05858	0.005000	0.12908	0.022000	0.10575	-0.078000	0.11375	-0.371000	0.08004	-1.041000	0.02371	AGT	.		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		G	86591498	C	G	86591498	3	3	24	1	0	0	0	0	1	0	0	0	3690	565	20	5	4855	5	COL24A1	1	86591498	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	15812052	86591498	162659123	37	3184											
LRRC8B	23507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	90049514	90049514	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:90049514T>C	ENST00000330947.2	+	5	1665	c.1305T>C	c.(1303-1305)aaT>aaC	p.N435N	LRRC8B_ENST00000358200.4_Silent_p.N435N|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.N435N	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	435					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)		TTCCAGACAATGTCTTTGAGT	0.443																																					p.N435N		.											.	.	.	0			c.T1305C						.						65	68	67					1																	90049514		2203	4300	6503	SO:0001819	synonymous_variant	23507	exon5			AGACAATGTCTTT	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.1305T>C	1.37:g.90049514T>C		38	0		13	11	NM_015350	D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																			.		0.443	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		C	90049514	T	C	90049514	2	2	24	1	0	0	0	0	0	0	0	1	9057	1461	51	4		4	LRRC8B	1	90049514	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3458016	90049514	159201107	38	3185											
BARHL2	343472	hgsc.bcm.edu	37	1	91182194	91182194	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:91182194C>G	ENST00000370445.4	-	1	600	c.559G>C	c.(559-561)Gag>Cag	p.E187Q		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	187					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)		TCCTCCTGCTCGAGCTTTGGC	0.622																																					p.E187Q	GBM(199;3561 4100 22440)	.											BARHL2,colon,carcinoma,0,1	BARHL2	0	0			c.G559C						.						77	64	68					1																	91182194		2203	4300	6503	SO:0001583	missense	343472	exon1			CCTGCTCGAGCTT	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.559G>C	1.37:g.91182194C>G	ENSP00000359474:p.Glu187Gln	44	0		12	2	NM_020063	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	CCDS730.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032423	0.75504	.	.	ENSG00000143032	ENST00000370445	D	0.90444	-2.67	5.71	5.71	0.89125	.	0.046677	0.85682	D	0.000000	D	0.87617	0.6222	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.88078	0.2805	10	0.30078	T	0.28	.	18.4286	0.90617	0.0:1.0:0.0:0.0	.	187	Q9NY43	BARH2_HUMAN	Q	187	ENSP00000359474:E187Q	ENSP00000359474:E187Q	E	-	1	0	BARHL2	90954782	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.263000	0.78421	2.688000	0.91661	0.655000	0.94253	GAG	.		0.622	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			G	91182194	C	G	91182194	3	3	24	1	0	0	0	0	1	0	0	0	1315	893	31	5	616	5	BARHL2	1	91182194	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1132680	91182194	158068427	39	3186											
BTBD8	284697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	92573559	92573559	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:92573559G>T	ENST00000342818.3	+	4	898		c.e4+1		BTBD8_ENST00000370382.3_Splice_Site|BTBD8_ENST00000540648.1_Splice_Site	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8							nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AAGCTCACAGGTAAATAGACA	0.408																																					.		.											.	.	.	0			c.662+1G>T						.						165	163	163					1																	92573559		2203	4300	6503	SO:0001630	splice_region_variant	284697	exon4			TCACAGGTAAATA	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.662+1G>T	1.37:g.92573559G>T		88	0		28	20	NM_183242	Q6V9S5	Splice_Site	SNP	ENST00000342818.3	37	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923407	0.73213	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8871	0.79258	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTBD8	92346147	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.535000	0.67173	2.480000	0.83734	0.591000	0.81541	.	.		0.408	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242	Intron	T	92573559	G	T	92573559	5	4	24	1	0	0	0	0	0	0	1	0	1551	1275	44	3	677	3	BTBD8	1	92573559	Splice_Site	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1391365	92573559	156677062	40	3187											
CNN3	1266	bcgsc.ca	37	1	95368702	95368706	+	Frame_Shift_Del	DEL	GTTGA	GTTGA	-	rs374270794		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GTTGA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:95368702_95368706delGTTGA	ENST00000370206.4	-	3	601_605	c.218_222delTCAAC	c.(217-222)gtcaacfs	p.VN73fs	CNN3_ENST00000545882.1_Frame_Shift_Del_p.VN32fs|CNN3_ENST00000538964.1_Frame_Shift_Del_p.VN73fs|CNN3_ENST00000394202.4_Frame_Shift_Del_p.VN73fs|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	73	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTGAGGACTCGTTGACCTTCTTCAC	0.395																																					p.73_74del													.	CNN3	23	0			c.218_222del						.																																			SO:0001589	frameshift_variant	1266	exon3			GGACTCGTTGACC	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.218_222delTCAAC	1.37:g.95368702_95368706delGTTGA	ENSP00000359225:p.Val73fs	119	0		25	0	NM_001839	B4DFK6|B4DP09|F8WA86|Q6FHA7	Frame_Shift_Del	DEL	ENST00000370206.4	37	CCDS30775.1																																																																																			.		0.395	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		-	95368706	GTTGA	-	95368702	7	5	24	1	0	1	0	1	0	0	0	0	3618	1136	40	0	787	0	CNN3	1	95368702	Frame_Shift_Del	DEL	GTTGA	TCGA-W5-AA39-01A-11D-A417-09	2795143	95368702	153881919	41	3188	18	2									
CNN3	1266	bcgsc.ca	37	1	95368708	95368712	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-	rs201766980		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CTTCT	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:95368708_95368712delCTTCT	ENST00000370206.4	-	3	595_599	c.212_216delAGAAG	c.(211-216)aagaagfs	p.KK71fs	CNN3_ENST00000545882.1_Frame_Shift_Del_p.KK30fs|CNN3_ENST00000538964.1_Frame_Shift_Del_p.KK71fs|CNN3_ENST00000394202.4_Frame_Shift_Del_p.KK71fs|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	71	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ACTCGTTGACCTTCTTCACTGAGCC	0.395																																					p.71_72del													.	CNN3	23	0			c.212_216del						.																																			SO:0001589	frameshift_variant	1266	exon3			GTTGACCTTCTTC	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.212_216delAGAAG	1.37:g.95368708_95368712delCTTCT	ENSP00000359225:p.Lys71fs	120	0		20	5	NM_001839	B4DFK6|B4DP09|F8WA86|Q6FHA7	Frame_Shift_Del	DEL	ENST00000370206.4	37	CCDS30775.1																																																																																			.		0.395	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		-	95368712	CTTCT	-	95368708	7	5	24	1	0	1	0	1	0	0	0	0	3618	680	24	0	793	0	CNN3	1	95368708	Frame_Shift_Del	DEL	CTTCT	TCGA-W5-AA39-01A-11D-A417-09	6	95368708	153881913	42	3189	18	2									
CNN3	1266	broad.mit.edu;bcgsc.ca	37	1	95368720	95368720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:95368720delG	ENST00000370206.4	-	3	587	c.204delC	c.(202-204)ggcfs	p.G68fs	CNN3_ENST00000545882.1_Frame_Shift_Del_p.G27fs|CNN3_ENST00000538964.1_Frame_Shift_Del_p.G68fs|CNN3_ENST00000394202.4_Frame_Shift_Del_p.G68fs|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	68	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TCTTCACTGAGCCTGGCTGTA	0.408																																					p.G68fs													.	CNN3	23	0			c.204delC						.						93	90	91					1																	95368720		2203	4300	6503	SO:0001589	frameshift_variant	1266	exon3			CACTGAGCCTGGC	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.204delC	1.37:g.95368720delG	ENSP00000359225:p.Gly68fs	116	0		23	8	NM_001839	B4DFK6|B4DP09|F8WA86|Q6FHA7	Frame_Shift_Del	DEL	ENST00000370206.4	37	CCDS30775.1																																																																																			.		0.408	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		-	95368720	G	-	95368720	7	5	24	1	0	1	0	1	0	0	0	0	3618	958	34	0	805	0	CNN3	1	95368720	Frame_Shift_Del	DEL	G	TCGA-W5-AA39-01A-11D-A417-09	12	95368720	153881901	43	3190	19	2									
CNN3	1266	hgsc.bcm.edu	37	1	95368727	95368727	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:95368727T>C	ENST00000370206.4	-	3	580	c.197A>G	c.(196-198)cAg>cGg	p.Q66R	CNN3_ENST00000545882.1_Missense_Mutation_p.Q25R|CNN3_ENST00000538964.1_Missense_Mutation_p.Q66R|CNN3_ENST00000394202.4_Missense_Mutation_p.Q66R|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	66	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TGAGCCTGGCTGTAGCTTGTT	0.413																																					p.Q66R		.											.	.	.	0			c.A197G						.						89	86	87					1																	95368727		2203	4300	6503	SO:0001583	missense	1266	exon3			CCTGGCTGTAGCT	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.197A>G	1.37:g.95368727T>C	ENSP00000359225:p.Gln66Arg	121	0		22	10	NM_001839	B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.877036	0.51801	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882;ENST00000415017	D;D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55;-3.55	5.61	5.61	0.85477	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	L	0.48362	1.52	0.44221	D	0.997059	B;D	0.55800	0.096;0.973	B;D	0.79784	0.072;0.993	D	0.93849	0.7143	10	0.29301	T	0.29	-10.9227	15.8096	0.78547	0.0:0.0:0.0:1.0	.	66;66	F8WA86;Q15417	.;CNN3_HUMAN	R	66;66;66;25;25	ENSP00000359225:Q66R;ENSP00000437665:Q66R;ENSP00000377752:Q66R;ENSP00000440081:Q25R;ENSP00000401452:Q25R	ENSP00000359225:Q66R	Q	-	2	0	CNN3	95141315	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.782000	0.62396	2.132000	0.65825	0.533000	0.62120	CAG	.		0.413	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		C	95368727	T	C	95368727	3	2	24	1	0	0	0	0	1	0	0	0	3618	1580	55	4	812	4	CNN3	1	95368727	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7	95368727	153881894	44	3191	19	2									
CDC14A	8556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	100983832	100983832	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:100983832A>G	ENST00000336454.3	+	16	2136	c.1781A>G	c.(1780-1782)tAc>tGc	p.Y594C	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	594					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)		TATGTTCATTACTAAGGCCTT	0.438																																					p.Y594C		.											.	.	.	0			c.A1781G						.						267	245	252					1																	100983832		2203	4300	6503	SO:0001583	missense	8556	exon16			TTCATTACTAAGG	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.1781A>G	1.37:g.100983832A>G	ENSP00000336739:p.Tyr594Cys	72	0		33	22	NM_003672	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459480	0.63401	.	.	ENSG00000079335	ENST00000336454	T	0.11930	2.73	5.62	5.62	0.85841	.	.	.	.	.	T	0.13586	0.0329	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.16129	-1.0413	9	0.72032	D	0.01	.	14.3917	0.66983	1.0:0.0:0.0:0.0	.	594	Q9UNH5	CC14A_HUMAN	C	594	ENSP00000336739:Y594C	ENSP00000336739:Y594C	Y	+	2	0	CDC14A	100756420	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.307000	0.59123	2.139000	0.66308	0.528000	0.53228	TAC	.		0.438	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		G	100983832	A	G	100983832	3	3	24	1	0	0	0	0	1	0	0	0	3063	391	14	4	1975	4	CDC14A	1	100983832	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5615105	100983832	148266789	45	3192											
AHCYL1	10768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	110555049	110555049	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:110555049A>C	ENST00000369799.5	+	4	809	c.442A>C	c.(442-444)Ata>Cta	p.I148L	AHCYL1_ENST00000359172.3_Missense_Mutation_p.I101L|AHCYL1_ENST00000393614.4_Missense_Mutation_p.I101L|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	148					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)		TGGTGCTAAAATAGTGGGCTG	0.453																																					p.I148L		.											.	.	.	0			c.A442C						.						79	81	80					1																	110555049		2203	4300	6503	SO:0001583	missense	10768	exon4			GCTAAAATAGTGG	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.442A>C	1.37:g.110555049A>C	ENSP00000358814:p.Ile148Leu	15	0		7	7	NM_006621	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	34	5.315335	0.95655	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82433	-1.61;-1.61;-1.61	5.71	5.71	0.89125	.	0.042806	0.85682	D	0.000000	D	0.88489	0.6450	M	0.85777	2.775	0.80722	D	1	B	0.21309	0.054	P	0.46275	0.51	D	0.88296	0.2946	10	0.87932	D	0	-24.3066	16.0042	0.80349	1.0:0.0:0.0:0.0	.	148	O43865	SAHH2_HUMAN	L	148;101;101	ENSP00000358814:I148L;ENSP00000352092:I101L;ENSP00000377238:I101L	ENSP00000352092:I101L	I	+	1	0	AHCYL1	110356572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.474000	0.81024	2.171000	0.68590	0.528000	0.53228	ATA	.		0.453	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			C	110555049	A	C	110555049	3	2	24	1	0	0	0	0	1	0	0	0	410	101	4	4	456	4	AHCYL1	1	110555049	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	9571217	110555049	138695572	46	3193											
CTTNBP2NL	55917	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	112999663	112999663	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:112999663G>T	ENST00000271277.6	+	6	1774	c.1549G>T	c.(1549-1551)Ggg>Tgg	p.G517W	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	517					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)			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)		TAGCCAACAAGGGCCAATCAA	0.532																																					p.G517W		.											.	.	.	0			c.G1549T						.						106	98	101					1																	112999663		2203	4300	6503	SO:0001583	missense	55917	exon6			CAACAAGGGCCAA	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.1549G>T	1.37:g.112999663G>T	ENSP00000271277:p.Gly517Trp	46	0		9	6	NM_018704	B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919392	0.52653	.	.	ENSG00000143079	ENST00000271277	T	0.26957	1.7	5.35	5.35	0.76521	.	0.163747	0.53938	D	0.000047	T	0.29190	0.0726	L	0.47716	1.5	0.45580	D	0.998529	D	0.62365	0.991	P	0.60415	0.874	T	0.02950	-1.1090	10	0.72032	D	0.01	-23.8138	12.0776	0.53653	0.0799:0.0:0.9201:0.0	.	517	Q9P2B4	CT2NL_HUMAN	W	517	ENSP00000271277:G517W	ENSP00000271277:G517W	G	+	1	0	CTTNBP2NL	112801186	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.021000	0.49651	2.502000	0.84385	0.462000	0.41574	GGG	.		0.532	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		T	112999663	G	T	112999663	3	4	24	1	0	0	0	0	1	0	0	0	4055	1000	35	3	1563	3	CTTNBP2NL	1	112999663	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2444614	112999663	136250958	47	3194											
ST7L	54879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	113140706	113140706	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:113140706T>C	ENST00000358039.4	-	5	813	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	ST7L_ENST00000369668.2_Missense_Mutation_p.Y170C|ST7L_ENST00000343210.7_Missense_Mutation_p.Y170C|ST7L_ENST00000369669.1_De_novo_Start_OutOfFrame|ST7L_ENST00000369666.1_Missense_Mutation_p.Y153C|ST7L_ENST00000490067.1_Missense_Mutation_p.Y153C|ST7L_ENST00000538187.1_Missense_Mutation_p.Y114C|ST7L_ENST00000360743.4_Missense_Mutation_p.Y170C|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000544629.1_Intron|ST7L_ENST00000543570.1_Missense_Mutation_p.Y153C	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	170					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)		CACCCAAGTGTATCTTTACCA	0.363																																					p.Y170C		.											.	.	.	0			c.A509G						.						155	148	150					1																	113140706		2203	4300	6503	SO:0001583	missense	54879	exon5			CAAGTGTATCTTT	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.509A>G	1.37:g.113140706T>C	ENSP00000350734:p.Tyr170Cys	98	0		38	28	NM_138729	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.967928|3.967928	0.74131|0.74131	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000418497|ENST00000358039;ENST00000360743;ENST00000369673;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665;ENST00000369664	.|T;T;T;T;T;T;T;T;T	.|0.25912	.|1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.56|5.56	4.41|4.41	0.53225|0.53225	.|.	.|0.111778	.|0.64402	.|D	.|0.000006	T|T	0.39733|0.39733	0.1089|0.1089	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.76494	.|0.999;0.996;0.996;0.998;0.998;0.999;0.998	.|D;D;D;D;D;D;D	.|0.76575	.|0.988;0.94;0.952;0.952;0.952;0.967;0.981	T|T	0.43621|0.43621	-0.9380|-0.9380	5|10	.|0.87932	.|D	.|0	-1.3983|-1.3983	11.6068|11.6068	0.51037|0.51037	0.1337:0.0:0.0:0.8663|0.1337:0.0:0.0:0.8663	.|.	.|153;114;170;153;153;170;170	.|B7Z8V6;B7Z7D4;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.|.;.;.;.;.;.;ST7L_HUMAN	A|C	42|170;170;48;153;170;170;153;114;153;48;114	.|ENSP00000350734:Y170C;ENSP00000353972:Y170C;ENSP00000417140:Y153C;ENSP00000358682:Y170C;ENSP00000345312:Y170C;ENSP00000358680:Y153C;ENSP00000444021:Y114C;ENSP00000444088:Y153C;ENSP00000358678:Y114C	.|ENSP00000345312:Y170C	T|Y	-|-	1|2	0|0	ST7L|ST7L	112942229|112942229	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.970000|0.970000	0.65996|0.65996	6.290000|6.290000	0.72712|0.72712	0.906000|0.906000	0.36621|0.36621	0.383000|0.383000	0.25322|0.25322	ACA|TAC	.		0.363	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			C	113140706	T	C	113140706	3	2	24	1	0	0	0	0	1	0	0	0	15277	1638	57	4	1301	4	ST7L	1	113140706	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	141043	113140706	136109915	48	3195											
HMGCS2	3158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	120302536	120302536	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:120302536T>A	ENST00000369406.3	-	3	685	c.636A>T	c.(634-636)ggA>ggT	p.G212G	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	212			G -> R (in HMGCS deficiency). {ECO:0000269|PubMed:11479731}.		cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TAGCCACAGCTCCGGCCCCAC	0.527																																					p.G212G		.											.	.	.	0			c.A636T						.						61	59	60					1																	120302536		2203	4300	6503	SO:0001819	synonymous_variant	3158	exon3			CACAGCTCCGGCC	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.636A>T	1.37:g.120302536T>A		25	0		14	6	NM_005518	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	CCDS905.1																																																																																			.		0.527	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		A	120302536	T	A	120302536	2	1	24	1	0	0	0	0	0	0	0	1	7260	1538	54	5		5	HMGCS2	1	120302536	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7161830	120302536	128948085	49	3196											
ADAM30	11085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	120436670	120436670	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:120436670C>A	ENST00000369400.1	-	1	2448	c.2290G>T	c.(2290-2292)Gca>Tca	p.A764S		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	764	5 X 9 AA approximate repeats.				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)		CCAGTTTTTGCTTTAGATTCT	0.363																																					p.A764S		.											.	.	.	0			c.G2290T						.						302	314	310					1																	120436670		2203	4300	6503	SO:0001583	missense	11085	exon1			TTTTTGCTTTAGA	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.2290G>T	1.37:g.120436670C>A	ENSP00000358407:p.Ala764Ser	165	0		103	55	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	5.633	0.301485	0.10678	.	.	ENSG00000134249	ENST00000369400	T	0.01159	5.25	1.74	-2.25	0.06888	.	.	.	.	.	T	0.00300	0.0009	N	0.19112	0.55	0.09310	N	1	B	0.20887	0.049	B	0.10450	0.005	T	0.40478	-0.9561	9	0.48119	T	0.1	.	3.3825	0.07260	0.3725:0.4566:0.0:0.1709	.	764	Q9UKF2	ADA30_HUMAN	S	764	ENSP00000358407:A764S	ENSP00000358407:A764S	A	-	1	0	ADAM30	120238193	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.871000	0.04223	-0.236000	0.09753	0.655000	0.94253	GCA	.		0.363	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		A	120436670	C	A	120436670	3	1	24	1	0	0	0	0	1	0	0	0	248	797	28	3	86	3	ADAM30	1	120436670	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	134134	120436670	128813951	50	3197											
FCGR1B	2210	hgsc.bcm.edu;broad.mit.edu	37	1	120934442	120934442	+	Frame_Shift_Del	DEL	T	T	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:120934442delT	ENST00000369384.4	-	3	288	c.246delA	c.(244-246)gaafs	p.E82fs	RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Intron|FCGR1B_ENST00000472543.1_5'UTR	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	82	Ig-like C2-type 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 peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	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)	Intravenous Immunoglobulin(DB00028)	GGCACCTGTATTCACCACTGT	0.542																																					p.Y83fs		.											.	.	.	0			c.247delT						.						8	9	9					1																	120934442		2117	4186	6303	SO:0001589	frameshift_variant	2210	exon3			CCTGTATTCACCA		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3614	protein-coding gene	gene with protein product		601502	"Fc fragment of IgG, high affinity Ib, receptor for (CD64)"			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.246delA	1.37:g.120934442delT	ENSP00000358391:p.Glu82fs	136	0		87	14	NM_001244910	Q7KZ13|Q92638	Frame_Shift_Del	DEL	ENST00000369384.4	37	CCDS30821.1																																																																																			.		0.542	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			-	120934442	T	-	120934442	7	5	24	1	0	1	0	1	0	0	0	0	5802	1490	52	0	608	0	FCGR1B	1	120934442	Frame_Shift_Del	DEL	T	TCGA-W5-AA39-01A-11D-A417-09	497772	120934442	128316179	51	3198											
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	144922029	144922029	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:144922029G>C	ENST00000369354.3	-	9	1189	c.1000C>G	c.(1000-1002)Cca>Gca	p.P334A	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.P121A|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P400A|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P497A|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P471A|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.P334A|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.P334A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P471A|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P334A|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.P497A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	334					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)		TGCTGAGCTGGAGAAGTACCC	0.458			T	PDGFRB	MPD																																p.P497A		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	.	0			c.C1489G						.						126	137	133					1																	144922029		2203	4296	6499	SO:0001583	missense	9659	exon5			GAGCTGGAGAAGT	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.1000C>G	1.37:g.144922029G>C	ENSP00000358360:p.Pro334Ala	75	0		65	11	NM_001002811	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	7.920	0.738363	0.15574	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.11063	4.82;4.92;4.92;4.92;4.92;3.93;3.93;2.82;2.83;2.81	5.68	2.74	0.32292	.	.	.	.	.	T	0.03783	0.0107	L	0.29908	0.895	0.80722	D	1	B;B;B;P;B	0.44241	0.0;0.001;0.0;0.829;0.003	B;B;B;P;B	0.46543	0.001;0.004;0.001;0.52;0.004	T	0.47623	-0.9103	9	0.15952	T	0.53	.	9.3565	0.38171	0.076:0.274:0.65:0.0	.	497;334;497;400;334	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	A	400;334;334;497;471;471;334;334;497;497;121	ENSP00000327209:P400A;ENSP00000358360:P334A;ENSP00000358363:P334A;ENSP00000435654:P471A;ENSP00000358366:P471A;ENSP00000358357:P334A;ENSP00000358355:P334A;ENSP00000316434:P497A;ENSP00000433392:P497A;ENSP00000436791:P121A	ENSP00000327209:P400A	P	-	1	0	PDE4DIP	143633386	0.981000	0.34729	0.239000	0.24122	0.368000	0.29767	2.136000	0.42121	0.306000	0.22856	-0.172000	0.13284	CCA	.		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144922029	G	C	144922029	3	2	24	1	0	0	0	0	1	0	0	0	11682	1174	41	5	6194	5	PDE4DIP	1	144922029	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	23987587	144922029	104328592	52	3199											
NBPF10	100132406	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	145299899	145299899	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:145299899T>G	ENST00000369338.1	+	2	325	c.135T>G	c.(133-135)acT>acG	p.T45T	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Silent_p.T316T|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	316						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)		GTTTTCTAACTCAACTGTCCG	0.428																																					p.T316T		.											.	.	.	0			c.T948G						.						43	31	34					1																	145299899		692	1591	2283	SO:0001819	synonymous_variant	100132406	exon6			TCTAACTCAACTG	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.135T>G	1.37:g.145299899T>G		663	1		613	151	NM_001039703	Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369338.1	37																																																																																				.		0.428	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		G	145299899	T	G	145299899	2	3	24	1	0	0	0	0	0	0	0	1	10231	1538	54	4		4	NBPF10	1	145299899	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	377870	145299899	103950722	53	3200											
LIX1L	128077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	145498117	145498117	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:145498117T>G	ENST00000369308.3	+	5	782	c.708T>G	c.(706-708)gtT>gtG	p.V236V	RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	236										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAATGACAGTTTTTCAACTGC	0.463																																					p.V236V		.											.	.	.	0			c.T708G						.						93	89	91					1																	145498117		2203	4300	6503	SO:0001819	synonymous_variant	128077	exon5			GACAGTTTTTCAA	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.708T>G	1.37:g.145498117T>G		80	0		82	12	NM_153713	Q6AI36	Silent	SNP	ENST00000369308.3	37	CCDS915.1																																																																																			.		0.463	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		G	145498117	T	G	145498117	2	3	24	1	0	0	0	0	0	0	0	1	8862	1828	64	4		4	LIX1L	1	145498117	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	198218	145498117	103752504	54	3201											
PRKAB2	5565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	146639504	146639504	+	Silent	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:146639504C>G	ENST00000254101.3	-	3	303	c.165G>C	c.(163-165)ggG>ggC	p.G55G	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	55					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)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	ACTCTTTGTCCCCAGGGAGCT	0.517																																					p.G55G		.											.	.	.	0			c.G165C						.						142	152	149					1																	146639504		2203	4300	6503	SO:0001819	synonymous_variant	5565	exon3			TTTGTCCCCAGGG	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"AMPK beta 2"	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.165G>C	1.37:g.146639504C>G		35	0		46	25	NM_005399	A8K9V5|B4DH06|Q5VXY0	Silent	SNP	ENST00000254101.3	37	CCDS925.1																																																																																			.		0.517	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399		G	146639504	C	G	146639504	2	3	24	1	0	0	0	0	0	0	0	1	12538	610	22	5		5	PRKAB2	1	146639504	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1141387	146639504	102611117	55	3202											
ANXA9	8416	hgsc.bcm.edu	37	1	150956496	150956496	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:150956496G>T	ENST00000368947.4	+	5	694	c.218G>T	c.(217-219)aGa>aTa	p.R73I	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	73					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	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)			AACCGGAGCAGAGAGCAAAGG	0.587																																					p.R73I		.											ANXA9,NS,carcinoma,0,1	ANXA9	0	0			c.G218T						.						79	59	66					1																	150956496		2203	4300	6503	SO:0001583	missense	8416	exon5			GGAGCAGAGAGCA	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.218G>T	1.37:g.150956496G>T	ENSP00000357943:p.Arg73Ile	36	0		36	2	NM_003568	Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	CCDS975.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487705	0.84854	.	.	ENSG00000143412	ENST00000368947	T	0.03301	3.98	5.52	3.54	0.40534	Annexin repeat, conserved site (1);	0.173147	0.51477	D	0.000093	T	0.02230	0.0069	N	0.20530	0.585	0.44771	D	0.997775	D	0.55385	0.971	P	0.55161	0.77	T	0.57528	-0.7796	10	0.49607	T	0.09	.	7.048	0.25056	0.0924:0.1735:0.7341:0.0	.	73	O76027	ANXA9_HUMAN	I	73	ENSP00000357943:R73I	ENSP00000357943:R73I	R	+	2	0	ANXA9	149223120	0.994000	0.37717	1.000000	0.80357	0.914000	0.54420	2.074000	0.41529	1.322000	0.45245	0.655000	0.94253	AGA	.		0.587	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		T	150956496	G	T	150956496	3	4	24	1	0	0	0	0	1	0	0	0	725	942	33	3	228	3	ANXA9	1	150956496	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	4316992	150956496	98294125	56	3203											
CELF3	11189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	151687099	151687099	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:151687099C>T	ENST00000290583.4	-	2	992	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	AL589765.1_ENST00000442233.2_Intron|CELF3_ENST00000290585.4_Missense_Mutation_p.A67T|RIIAD1_ENST00000326413.3_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	67	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						TCGTGCAGGGCGCTCTGGGCC	0.642																																					p.A67T		.											.	.	.	0			c.G199A						.						39	33	35					1																	151687099		2195	4280	6475	SO:0001583	missense	11189	exon2			GCAGGGCGCTCTG	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.199G>A	1.37:g.151687099C>T	ENSP00000290583:p.Ala67Thr	52	0		60	47	NM_007185	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147308	0.94603	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000368833	T;T	0.17691	2.26;2.26	4.64	4.64	0.57946	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.128879	0.51477	D	0.000094	T	0.25344	0.0616	L	0.46670	1.46	0.80722	D	1	B;P;D;D	0.76494	0.208;0.792;0.999;0.997	B;B;D;P	0.81914	0.154;0.171;0.995;0.845	T	0.00875	-1.1531	10	0.51188	T	0.08	-11.6468	15.041	0.71791	0.0:1.0:0.0:0.0	.	67;67;67;67	Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.;.;CELF3_HUMAN;.	T	67	ENSP00000290585:A67T;ENSP00000290583:A67T	ENSP00000290583:A67T	A	-	1	0	CELF3	149953723	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	5.602000	0.67612	2.400000	0.81607	0.563000	0.77884	GCC	.		0.642	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		T	151687099	C	T	151687099	3	4	24	1	0	0	0	0	1	0	0	0	3224	768	27	1	1242	1	CELF3	1	151687099	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	730603	151687099	97563522	57	3204											
RPTN	126638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152129066	152129066	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:152129066T>C	ENST00000316073.3	-	3	573	c.509A>G	c.(508-510)cAc>cGc	p.H170R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	170	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)		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						AGGCTGACTGTGGTGGGAATC	0.483																																					p.H170R		.											.,15	.	123	1	Deletion - In frame(1)	stomach(1)	c.A509G						.						486	419	440					1																	152129066		1568	3582	5150	SO:0001583	missense	126638	exon3			TGACTGTGGTGGG	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.509A>G	1.37:g.152129066T>C	ENSP00000317895:p.His170Arg	94	0		70	10	NM_001122965	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	9.768	1.171947	0.21704	.	.	ENSG00000215853	ENST00000316073	T	0.13196	2.61	5.18	1.25	0.21368	.	1.717380	0.04185	N	0.327283	T	0.03434	0.0099	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.41124	-0.9526	10	0.25106	T	0.35	0.0335	7.7237	0.28746	0.0:0.2679:0.0:0.7321	.	170	Q6XPR3	RPTN_HUMAN	R	170	ENSP00000317895:H170R	ENSP00000317895:H170R	H	-	2	0	RPTN	150395690	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.035000	0.13797	0.241000	0.21283	0.448000	0.29417	CAC	.		0.483	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		C	152129066	T	C	152129066	3	2	24	1	0	0	0	0	1	0	0	0	13709	1696	59	4	1849	4	RPTN	1	152129066	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	441967	152129066	97121555	58	3205	20	2									
RPTN	126638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152129068	152129068	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:152129068G>T	ENST00000316073.3	-	3	571	c.507C>A	c.(505-507)caC>caA	p.H169Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	169	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)		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						GCTGACTGTGGTGGGAATCTC	0.483																																					p.H169Q		.											.	.	.	1	Deletion - In frame(1)	stomach(1)	c.C507A						.						489	422	442					1																	152129068		1568	3582	5150	SO:0001583	missense	126638	exon3			ACTGTGGTGGGAA	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.507C>A	1.37:g.152129068G>T	ENSP00000317895:p.His169Gln	91	0		68	9	NM_001122965	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814040	0.50527	.	.	ENSG00000215853	ENST00000316073	T	0.12672	2.66	5.18	0.862	0.19056	.	0.766141	0.10635	U	0.651661	T	0.15609	0.0376	M	0.80616	2.505	0.09310	N	1	D	0.76494	0.999	D	0.67103	0.949	T	0.10567	-1.0624	10	0.25106	T	0.35	-0.3258	4.4843	0.11781	0.2824:0.1647:0.5528:0.0	.	169	Q6XPR3	RPTN_HUMAN	Q	169	ENSP00000317895:H169Q	ENSP00000317895:H169Q	H	-	3	2	RPTN	150395692	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.116000	0.15561	0.584000	0.29591	0.549000	0.68633	CAC	.		0.483	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		T	152129068	G	T	152129068	3	4	24	1	0	0	0	0	1	0	0	0	13709	1252	44	3	1851	3	RPTN	1	152129068	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2	152129068	97121553	59	3206	20	2									
C1orf104	23623	hgsc.bcm.edu;ucsc.edu	37	1	155290956	155290956	+	Intron	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:155290956G>T	ENST00000368352.5	+	1	65				RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCGCAGGCTGGAGCCCGGCCG	0.602																																					p.L108L		.											.	.	.	0			c.C324A						.						37	53	48					1																	155290956		2077	4206	6283	SO:0001627	intron_variant	284618	exon2			AGGCTGGAGCCCG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-87+174G>T	1.37:g.155290956G>T		44	0		40	4	NM_001039517	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																			.		0.602	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			T	155290956	G	T	155290956	1	4	24	0	1	0	0	0	0	0	0	0	1985	1161	41	3		3	C1orf104	1	155290956	Intron	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3161888	155290956	93959665	60	3207											
ASH1L	55870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	155447890	155447890	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:155447890A>C	ENST00000368346.3	-	3	5410	c.4771T>G	c.(4771-4773)Ttc>Gtc	p.F1591V	ASH1L_ENST00000392403.3_Missense_Mutation_p.F1591V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1591	Ser-rich.				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)			TTGGGAGTGAATCCTCCAAGG	0.488																																					p.F1591V		.											.	.	.	0			c.T4771G						.						93	94	94					1																	155447890		2203	4300	6503	SO:0001583	missense	55870	exon3			GAGTGAATCCTCC	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.4771T>G	1.37:g.155447890A>C	ENSP00000357330:p.Phe1591Val	77	0		71	12	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	A	17.86	3.493690	0.64186	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88975	-2.44;-2.45	5.44	5.44	0.79542	.	0.074164	0.56097	D	0.000028	D	0.84474	0.5480	N	0.14661	0.345	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.58721	0.702;0.844	D	0.87876	0.2674	10	0.54805	T	0.06	.	15.3248	0.74150	1.0:0.0:0.0:0.0	.	1591;1591	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	1591	ENSP00000357330:F1591V;ENSP00000376204:F1591V	ENSP00000357330:F1591V	F	-	1	0	ASH1L	153714514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.748000	0.62148	2.285000	0.76669	0.533000	0.62120	TTC	.		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		C	155447890	A	C	155447890	3	2	24	1	0	0	0	0	1	0	0	0	1042	101	4	4	4227	4	ASH1L	1	155447890	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	156934	155447890	93802731	61	3208											
RIT1	6016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	155880452	155880452	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:155880452T>A	ENST00000368323.3	-	2	305	c.101A>T	c.(100-102)aAg>aTg	p.K34M	RIT1_ENST00000539040.1_Intron|RIT1_ENST00000368322.3_Missense_Mutation_p.K51M	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	34					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCTACCACTCTTCCCTACACC	0.463																																					p.K51M		.											RIT1,NS,malignant_melanoma,0,1	RIT1	0	0			c.A152T						.						147	150	149					1																	155880452		2203	4300	6503	SO:0001583	missense	6016	exon2			CCACTCTTCCCTA	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.101A>T	1.37:g.155880452T>A	ENSP00000357306:p.Lys34Met	58	0		58	36	NM_001256821	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	T	32	5.161017	0.94727	.	.	ENSG00000143622	ENST00000368323;ENST00000368322	D;D	0.96913	-4.17;-4.17	4.7	4.7	0.59300	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000004	D	0.98947	0.9642	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98908	1.0779	10	0.87932	D	0	.	12.5409	0.56169	0.0:0.0:0.0:1.0	.	34	Q92963	RIT1_HUMAN	M	34;51	ENSP00000357306:K34M;ENSP00000357305:K51M	ENSP00000357305:K51M	K	-	2	0	RIT1	154147076	0.993000	0.37304	0.678000	0.29963	0.591000	0.36615	4.535000	0.60629	1.972000	0.57404	0.454000	0.30748	AAG	.		0.463	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		A	155880452	T	A	155880452	3	1	24	1	0	0	0	0	1	0	0	0	13431	1609	56	5	578	5	RIT1	1	155880452	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	432562	155880452	93370169	62	3209											
MEF2D	4209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156450644	156450644	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:156450644C>T	ENST00000348159.4	-	4	858	c.378G>A	c.(376-378)ggG>ggA	p.G126G	MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000464356.2_Intron|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000368240.2_Silent_p.G126G|MEF2D_ENST00000360595.3_Silent_p.G126G	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	126					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)					GCCGGAAGAGCCCGTCGAGCT	0.682											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G126G		.											.	.	.	0			c.G378A						.						40	46	44					1																	156450644		2203	4299	6502	SO:0001819	synonymous_variant	4209	exon4			GAAGAGCCCGTCG	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.378G>A	1.37:g.156450644C>T		44	0	1778	55	35	NM_005920	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	CCDS1143.1																																																																																			.		0.682	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		T	156450644	C	T	156450644	2	4	24	1	0	0	0	0	0	0	0	1	9496	726	26	3		3	MEF2D	1	156450644	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	570192	156450644	92799977	63	3210											
BCAN	63827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156622046	156622046	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:156622046A>G	ENST00000329117.5	+	8	1640	c.1304A>G	c.(1303-1305)gAa>gGa	p.E435G	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E435G	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	435	Glu-rich.				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)					CTAGAATTTGAAACACAATCC	0.493																																					p.E435G		.											.	.	.	0			c.A1304G						.						60	59	59					1																	156622046		2203	4299	6502	SO:0001583	missense	63827	exon8			AATTTGAAACACA	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.1304A>G	1.37:g.156622046A>G	ENSP00000331210:p.Glu435Gly	90	0		62	16	NM_198427	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	A	4.723	0.134390	0.09032	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.16743	2.32;3.0	4.85	3.7	0.42460	.	0.322091	0.23920	N	0.043249	T	0.03477	0.0100	N	0.19112	0.55	0.29206	N	0.874903	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29243	-1.0018	10	0.41790	T	0.15	-5.9363	5.7536	0.18160	0.8784:0.0:0.1216:0.0	.	435;435	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	G	374;435;435	ENSP00000331210:E435G;ENSP00000354925:E435G	ENSP00000255029:E374G	E	+	2	0	BCAN	154888670	0.996000	0.38824	0.944000	0.38274	0.054000	0.15201	2.590000	0.46154	2.032000	0.59987	0.459000	0.35465	GAA	.		0.493	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156622046	A	G	156622046	3	3	24	1	0	0	0	0	1	0	0	0	1346	246	9	4	1330	4	BCAN	1	156622046	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	171402	156622046	92628575	64	3211											
COPA	1314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	160263008	160263008	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:160263008G>T	ENST00000241704.7	-	27	3000	c.2771C>A	c.(2770-2772)tCt>tAt	p.S924Y	COPA_ENST00000368069.3_Missense_Mutation_p.S933Y	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	924					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)			TGGAAGCTGAGAGTTATTACA	0.453																																					p.S933Y		.											.	.	.	0			c.C2798A						.						83	86	85					1																	160263008		2203	4300	6503	SO:0001583	missense	1314	exon27			AGCTGAGAGTTAT	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.2771C>A	1.37:g.160263008G>T	ENSP00000241704:p.Ser924Tyr	89	0		103	66	NM_001098398	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746442	0.89663	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60040	0.22;0.22	5.34	5.34	0.76211	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78792	-0.2065	10	0.87932	D	0	-19.5953	18.1326	0.89606	0.0:0.0:1.0:0.0	.	924;933	P53621;P53621-2	COPA_HUMAN;.	Y	933;924	ENSP00000357048:S933Y;ENSP00000241704:S924Y	ENSP00000241704:S924Y	S	-	2	0	COPA	158529632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.964000	0.93389	2.937000	0.99478	0.650000	0.86243	TCT	.		0.453	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		T	160263008	G	T	160263008	3	4	24	1	0	0	0	0	1	0	0	0	3734	942	33	3	931	3	COPA	1	160263008	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3640962	160263008	88987613	65	3212											
COPA	1314	hgsc.bcm.edu;ucsc.edu	37	1	160269048	160269048	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:160269048G>A	ENST00000241704.7	-	18	1903	c.1674C>T	c.(1672-1674)caC>caT	p.H558H	COPA_ENST00000368069.3_Silent_p.H567H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	558					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)			GAATGATCCCGTGGTCCCTAA	0.493																																					p.H567H		.											.	.	.	0			c.C1701T						.						89	82	84					1																	160269048		2203	4300	6503	SO:0001819	synonymous_variant	1314	exon18			GATCCCGTGGTCC	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.1674C>T	1.37:g.160269048G>A		22	0		40	4	NM_001098398	Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																			.		0.493	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		A	160269048	G	A	160269048	2	1	24	1	0	0	0	0	0	0	0	1	3734	1136	40	1		1	COPA	1	160269048	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	6040	160269048	88981573	66	3213											
UHMK1	127933	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	162467956	162467956	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:162467956T>G	ENST00000489294.1	+	1	324	c.166T>G	c.(166-168)Ttc>Gtc	p.F56V	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.F56V|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	56	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)			CCTCAAGCAGTTCTTGCCGCC	0.667																																					p.F56V		.											.	.	.	0			c.T166G						.						12	15	14					1																	162467956		2194	4296	6490	SO:0001583	missense	127933	exon1			AAGCAGTTCTTGC	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.166T>G	1.37:g.162467956T>G	ENSP00000420270:p.Phe56Val	24	0		29	19	NM_175866	A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.702466	0.88924	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.18338	2.22;2.22	4.94	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.07007	0.0178	N	0.04373	-0.215	.	.	.	D;D	0.56287	0.968;0.975	D;D	0.74023	0.969;0.982	T	0.10474	-1.0628	9	0.05436	T	0.98	-12.4638	11.1664	0.48545	0.0:0.0:0.0:1.0	.	56;56	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	V	56	ENSP00000446416:F56V;ENSP00000420270:F56V	ENSP00000420270:F56V	F	+	1	0	UHMK1	160734580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.766000	0.62279	2.192000	0.70111	0.533000	0.62120	TTC	.		0.667	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		G	162467956	T	G	162467956	3	3	24	1	0	0	0	0	1	0	0	0	17015	1725	60	4	218	4	UHMK1	1	162467956	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2198908	162467956	86782665	67	3214											
TMCO1	54499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	165728808	165728808	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:165728808C>T	ENST00000392129.6	-	3	312	c.162G>A	c.(160-162)aaG>aaA	p.K54K	TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000580248.1_5'UTR|TMCO1_ENST00000367881.5_Silent_p.K105K	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	54						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TTATTGTTTCCTTCTTCTTTT	0.299																																					p.K105K		.											.	.	.	0			c.G315A						.						90	89	90					1																	165728808		2203	4298	6501	SO:0001819	synonymous_variant	54499	exon3			TGTTTCCTTCTTC	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.162G>A	1.37:g.165728808C>T		79	0		93	60	NM_019026	B2REA0|O75545|Q9BZS3|Q9BZU8	Silent	SNP	ENST00000392129.6	37																																																																																				.		0.299	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		T	165728808	C	T	165728808	2	4	24	1	0	0	0	0	0	0	0	1	16042	680	24	3		3	TMCO1	1	165728808	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3260852	165728808	83521813	68	3215											
C1orf9	51430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	172558420	172558420	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:172558420C>G	ENST00000263688.3	+	18	2398	c.2179C>G	c.(2179-2181)Caa>Gaa	p.Q727E	SUCO_ENST00000367723.4_Missense_Mutation_p.Q878E|SUCO_ENST00000608151.1_Missense_Mutation_p.Q879E|SUCO_ENST00000610051.1_Intron	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	727					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)											AAGCCATTCTCAAACTCTTTC	0.393																																					p.Q727E		.											.	.	.	0			c.C2179G						.						87	88	88					1																	172558420		2201	4299	6500	SO:0001583	missense	51430	exon18			CATTCTCAAACTC	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.2179C>G	1.37:g.172558420C>G	ENSP00000263688:p.Gln727Glu	34	0		44	28	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691075	0.48097	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.39	5.39	0.77823	.	0.406919	0.27513	N	0.019024	T	0.47116	0.1428	M	0.62723	1.935	0.40808	D	0.983392	P;B;B	0.35959	0.53;0.435;0.332	B;B;B	0.34652	0.187;0.15;0.142	T	0.49476	-0.8936	9	0.19147	T	0.46	-3.43	17.705	0.88306	0.0:1.0:0.0:0.0	.	727;879;727	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	E	879;727	.	ENSP00000263688:Q727E	Q	+	1	0	C1orf9	170825043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.765000	0.55272	2.517000	0.84864	0.655000	0.94253	CAA	.		0.393	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		G	172558420	C	G	172558420	3	3	24	1	0	0	0	0	1	0	0	0	2074	827	29	5	2249	5	C1orf9	1	172558420	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	6829612	172558420	76692201	69	3216											
PAPPA2	60676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	176811561	176811561	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:176811561C>G	ENST00000367662.3	+	23	6511	c.5347C>G	c.(5347-5349)Cgg>Ggg	p.R1783G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1783					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						GTGCACCTGCCGGGACCCCAA	0.512																																					p.R1783G		.											PAPPA2,colon,carcinoma,-1,2	PAPPA2	-1	0			c.C5347G						.						90	89	89					1																	176811561		1903	4129	6032	SO:0001583	missense	60676	exon23			ACCTGCCGGGACC	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.5347C>G	1.37:g.176811561C>G	ENSP00000356634:p.Arg1783Gly	43	0		61	16	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387203	0.82902	.	.	ENSG00000116183	ENST00000367662	T	0.02015	4.5	5.51	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.10294	0.0252	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00926	-1.1512	10	0.87932	D	0	-9.368	14.5915	0.68368	0.1474:0.8526:0.0:0.0	.	1783	Q9BXP8	PAPP2_HUMAN	G	1783	ENSP00000356634:R1783G	ENSP00000356634:R1783G	R	+	1	2	PAPPA2	175078184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.724000	0.74747	1.311000	0.45024	-0.181000	0.13052	CGG	.		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			G	176811561	C	G	176811561	3	3	24	1	0	0	0	0	1	0	0	0	11472	643	23	5	5486	5	PAPPA2	1	176811561	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4253141	176811561	72439060	70	3217											
RALGPS2	55103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	178745908	178745908	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:178745908A>C	ENST00000367635.3	+	2	347	c.9A>C	c.(7-9)ctA>ctC	p.L3L	RALGPS2_ENST00000367634.2_Silent_p.L3L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	3					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						GCATGGACCTAATGAACGGGC	0.423																																					p.L3L		.											.	.	.	0			c.A9C						.						126	101	110					1																	178745908		2203	4300	6503	SO:0001819	synonymous_variant	55103	exon2			GGACCTAATGAAC	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.9A>C	1.37:g.178745908A>C		53	0		53	34	NM_152663	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	ENST00000367635.3	37	CCDS1325.1																																																																																			.		0.423	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		C	178745908	A	C	178745908	2	2	24	1	0	0	0	0	0	0	0	1	13063	349	13	4		4	RALGPS2	1	178745908	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1934347	178745908	70504713	71	3218											
SOAT1	6646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	179312001	179312001	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:179312001T>C	ENST00000367619.3	+	9	1007	c.864T>C	c.(862-864)acT>acC	p.T288T	SOAT1_ENST00000539888.1_Silent_p.T223T|SOAT1_ENST00000540564.1_Silent_p.T230T|SOAT1_ENST00000535686.1_Silent_p.T24T	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	288					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)	TTCTAGGCACTGTTCCAATAC	0.403																																					p.T288T		.											.	.	.	0			c.T864C						.						164	154	157					1																	179312001		2203	4300	6503	SO:0001819	synonymous_variant	6646	exon9			AGGCACTGTTCCA	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.864T>C	1.37:g.179312001T>C		66	0		73	54	NM_003101	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	CCDS1330.1																																																																																			.		0.403	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		C	179312001	T	C	179312001	2	2	24	1	0	0	0	0	0	0	0	1	14955	1567	55	4		4	SOAT1	1	179312001	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	566093	179312001	69938620	72	3219											
CEP350	9857	hgsc.bcm.edu	37	1	180023000	180023000	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:180023000T>C	ENST00000367607.3	+	24	5523	c.5105T>C	c.(5104-5106)cTg>cCg	p.L1702P		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1702					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						TCTTCACTCCTGCGTCTCCGT	0.413																																					p.L1702P		.											.	.	.	0			c.T5105C						.						88	92	90					1																	180023000		2203	4300	6503	SO:0001583	missense	9857	exon24			CACTCCTGCGTCT	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.5105T>C	1.37:g.180023000T>C	ENSP00000356579:p.Leu1702Pro	79	0		98	4	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888321	0.91814	.	.	ENSG00000135837	ENST00000367607	T	0.74209	-0.82	5.98	5.98	0.97165	.	0.000000	0.35708	N	0.003040	T	0.80059	0.4554	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78484	-0.2186	9	.	.	.	.	16.1237	0.81377	0.0:0.0:0.0:1.0	.	1702;1702	E7EU22;Q5VT06	.;CE350_HUMAN	P	1702	ENSP00000356579:L1702P	.	L	+	2	0	CEP350	178289623	1.000000	0.71417	0.932000	0.37286	0.995000	0.86356	7.698000	0.84413	2.289000	0.77006	0.533000	0.62120	CTG	.		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		C	180023000	T	C	180023000	3	2	24	1	0	0	0	0	1	0	0	0	3261	1580	55	4	5195	4	CEP350	1	180023000	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	710999	180023000	69227621	73	3220											
PRG4	10216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	186277684	186277684	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:186277684A>G	ENST00000445192.2	+	7	2878	c.2833A>G	c.(2833-2835)Aca>Gca	p.T945A	PRG4_ENST00000367484.3_Missense_Mutation_p.T474A|PRG4_ENST00000367483.4_Missense_Mutation_p.T904A|PRG4_ENST00000367485.4_Missense_Mutation_p.T852A|PRG4_ENST00000367486.3_Missense_Mutation_p.T902A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	945					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						AGCAACTACAACAGAAAAAAC	0.378																																					p.T945A		.											.	.	.	0			c.A2833G						.						208	224	219					1																	186277684		2203	4300	6503	SO:0001583	missense	10216	exon7			ACTACAACAGAAA	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.2833A>G	1.37:g.186277684A>G	ENSP00000399679:p.Thr945Ala	76	0		94	54	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	8.502	0.864593	0.17250	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.04758	3.56;3.59;3.68;3.57;3.68	3.53	-2.87	0.05700	.	1.069190	0.07425	U	0.894627	T	0.02418	0.0074	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.25312	0.123;0.047;0.028;0.047	B;B;B;B	0.16289	0.015;0.009;0.004;0.009	T	0.48364	-0.9042	10	0.10636	T	0.68	1.6111	5.2784	0.15663	0.5017:0.2609:0.2373:0.0	.	811;852;945;904	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	902;474;811;904;852;945	ENSP00000356456:T902A;ENSP00000356454:T474A;ENSP00000356453:T904A;ENSP00000356455:T852A;ENSP00000399679:T945A	ENSP00000356452:T811A	T	+	1	0	PRG4	184544307	0.157000	0.22836	0.001000	0.08648	0.155000	0.21991	0.568000	0.23623	-0.523000	0.06409	0.352000	0.21897	ACA	.		0.378	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		G	186277684	A	G	186277684	3	3	24	1	0	0	0	0	1	0	0	0	12523	43	2	4	2855	4	PRG4	1	186277684	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6254684	186277684	62972937	74	3221											
ZNF281	23528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	200376559	200376559	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:200376559A>C	ENST00000294740.3	-	2	2399	c.2275T>G	c.(2275-2277)Ttg>Gtg	p.L759V	ZNF281_ENST00000367352.3_Missense_Mutation_p.L723V|ZNF281_ENST00000367353.1_Missense_Mutation_p.L759V	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	759					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						GAAGGTGTCAACTGCTGATGT	0.453																																					p.L759V		.											.	.	.	0			c.T2275G						.						55	55	55					1																	200376559		2203	4300	6503	SO:0001583	missense	23528	exon2			GTGTCAACTGCTG	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.2275T>G	1.37:g.200376559A>C	ENSP00000294740:p.Leu759Val	63	0		74	19	NM_012482	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909682	0.33721	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.08720	3.07;3.07;3.06	5.6	2.88	0.33553	.	0.000000	0.64402	D	0.000001	T	0.14657	0.0354	L	0.29908	0.895	0.48830	D	0.999717	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.03121	-1.1070	10	0.36615	T	0.2	5.2259	9.4078	0.38473	0.7748:0.0:0.2252:0.0	.	723;759	A6NF48;Q9Y2X9	.;ZN281_HUMAN	V	759;759;723;464	ENSP00000294740:L759V;ENSP00000356322:L759V;ENSP00000356321:L723V	ENSP00000294740:L759V	L	-	1	2	ZNF281	198643182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.925000	0.40074	0.913000	0.36797	0.533000	0.62120	TTG	.		0.453	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		C	200376559	A	C	200376559	3	2	24	1	0	0	0	0	1	0	0	0	17866	40	2	4	416	4	ZNF281	1	200376559	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	14098875	200376559	48874062	75	3222											
KIF14	9928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	200587439	200587439	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:200587439A>C	ENST00000367350.4	-	2	851	c.413T>G	c.(412-414)aTa>aGa	p.I138R		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	138	Required for PRC1-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						GACAGAATCTATTTCAGCTGT	0.353																																					p.I138R		.											.	.	.	0			c.T413G						.						94	97	96					1																	200587439		2203	4300	6503	SO:0001583	missense	9928	exon2			GAATCTATTTCAG	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.413T>G	1.37:g.200587439A>C	ENSP00000356319:p.Ile138Arg	72	0		67	43	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	5.496	0.276456	0.10403	.	.	ENSG00000118193	ENST00000367350	T	0.72505	-0.66	1.94	-3.88	0.04205	.	.	.	.	.	T	0.38506	0.1043	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17319	-1.0373	9	0.17369	T	0.5	.	0.7228	0.00943	0.4335:0.1765:0.2124:0.1776	.	138	Q15058	KIF14_HUMAN	R	138	ENSP00000356319:I138R	ENSP00000356319:I138R	I	-	2	0	KIF14	198854062	0.003000	0.15002	0.000000	0.03702	0.012000	0.07955	-0.631000	0.05496	-1.379000	0.02118	-0.755000	0.03482	ATA	.		0.353	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		C	200587439	A	C	200587439	3	2	24	1	0	0	0	0	1	0	0	0	8303	449	16	4	4649	4	KIF14	1	200587439	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	210880	200587439	48663182	76	3223											
ARL8A	127829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	202107156	202107156	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:202107156A>G	ENST00000272217.2	-	3	383	c.215T>C	c.(214-216)aTt>aCt	p.I72T	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	72					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						CTGTCCCCCAATGTCCCAGAG	0.597																																					p.I72T		.											.	.	.	0			c.T215C						.						63	55	58					1																	202107156		2203	4300	6503	SO:0001583	missense	127829	exon3			CCCCCAATGTCCC	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.215T>C	1.37:g.202107156A>G	ENSP00000272217:p.Ile72Thr	31	0		38	27	NM_138795	B3KXD0	Missense_Mutation	SNP	ENST00000272217.2	37	CCDS1421.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379776	0.82682	.	.	ENSG00000143862	ENST00000272217	T	0.68181	-0.31	4.55	4.55	0.56014	Small GTP-binding protein domain (1);	0.060552	0.64402	D	0.000006	T	0.76062	0.3935	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.78758	-0.2079	10	0.87932	D	0	-6.4729	13.5562	0.61761	1.0:0.0:0.0:0.0	.	72	Q96BM9	ARL8A_HUMAN	T	72	ENSP00000272217:I72T	ENSP00000272217:I72T	I	-	2	0	ARL8A	200373779	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.431000	0.80335	1.682000	0.51000	0.383000	0.25322	ATT	.		0.597	ARL8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087493.1	NM_138795		G	202107156	A	G	202107156	3	3	24	1	0	0	0	0	1	0	0	0	947	101	4	4	365	4	ARL8A	1	202107156	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1519717	202107156	47143465	77	3224											
PLEKHA6	22874	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	204236606	204236606	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:204236606T>C	ENST00000272203.3	-	5	593	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K93E	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									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)			AGCTCACCTTTATAGTAGAAG	0.582																																					p.K93E													.	PLEKHA6	115	0			c.A277G						.						92	70	77					1																	204236606		2203	4300	6503	SO:0001583	missense	22874	exon5			CACCTTTATAGTA	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.277A>G	1.37:g.204236606T>C	ENSP00000272203:p.Lys93Glu	38	0		31	18	NM_014935	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143627	0.77888	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.78003	-1.14;-1.14	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047987	0.85682	D	0.000000	D	0.87124	0.6099	M	0.70842	2.15	0.80722	D	1	D	0.53312	0.959	D	0.72625	0.978	D	0.88403	0.3016	10	0.72032	D	0.01	.	15.2951	0.73898	0.0:0.0:0.0:1.0	.	93	Q9Y2H5	PKHA6_HUMAN	E	93	ENSP00000272203:K93E;ENSP00000402046:K93E	ENSP00000272203:K93E	K	-	1	0	PLEKHA6	202503229	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.511000	0.73733	2.086000	0.62901	0.448000	0.29417	AAA	.		0.582	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		C	204236606	T	C	204236606	3	2	24	1	0	0	0	0	1	0	0	0	12099	1763	61	4	2941	4	PLEKHA6	1	204236606	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2129450	204236606	45014015	78	3225											
CNTN2	6900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	205027329	205027329	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:205027329A>T	ENST00000331830.4	+	4	520	c.236A>T	c.(235-237)gAg>gTg	p.E79V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	79	Ig-like C2-type 1.				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)			AATGGTACCGAGATGAAGCTG	0.612																																					p.E79V	Melanoma(183;2548 2817 37099 41192)	.											.	.	.	0			c.A236T						.						26	26	26					1																	205027329		2203	4300	6503	SO:0001583	missense	6900	exon4			GTACCGAGATGAA	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.236A>T	1.37:g.205027329A>T	ENSP00000330633:p.Glu79Val	31	0		33	21	NM_005076	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363463	0.82353	.	.	ENSG00000184144	ENST00000331830	T	0.13089	2.62	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.116790	0.37669	N	0.001989	T	0.17238	0.0414	L	0.45744	1.44	0.80722	D	1	P	0.38335	0.627	B	0.41374	0.355	T	0.01734	-1.1285	10	0.39692	T	0.17	.	14.8945	0.70633	1.0:0.0:0.0:0.0	.	79	Q02246	CNTN2_HUMAN	V	79	ENSP00000330633:E79V	ENSP00000330633:E79V	E	+	2	0	CNTN2	203293952	1.000000	0.71417	0.977000	0.42913	0.784000	0.44337	5.761000	0.68801	1.982000	0.57802	0.533000	0.62120	GAG	.		0.612	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		T	205027329	A	T	205027329	3	4	24	1	0	0	0	0	1	0	0	0	3648	304	11	5	246	5	CNTN2	1	205027329	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	790723	205027329	44223292	79	3226											
PLXNA2	5362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	208200667	208200667	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:208200667T>A	ENST00000367033.3	-	32	6363	c.5606A>T	c.(5605-5607)gAg>gTg	p.E1869V	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1869					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)		CTCATCCTGCTCTAGGGCCCC	0.542																																					p.E1869V		.											.	.	.	0			c.A5606T						.						70	69	69					1																	208200667		2203	4300	6503	SO:0001583	missense	5362	exon32			TCCTGCTCTAGGG	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.5606A>T	1.37:g.208200667T>A	ENSP00000356000:p.Glu1869Val	20	0		22	14	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.966710	0.92855	.	.	ENSG00000076356	ENST00000367033	T	0.01234	5.13	5.27	5.27	0.74061	.	0.049469	0.85682	D	0.000000	T	0.05227	0.0139	M	0.84219	2.685	0.80722	D	1	P;P	0.52170	0.951;0.8	P;B	0.47603	0.551;0.37	T	0.08973	-1.0696	10	0.87932	D	0	.	15.2098	0.73214	0.0:0.0:0.0:1.0	.	1869;139	O75051;Q9HAE7	PLXA2_HUMAN;.	V	1869	ENSP00000356000:E1869V	ENSP00000356000:E1869V	E	-	2	0	PLXNA2	206267290	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	7.751000	0.85126	1.997000	0.58415	0.533000	0.62120	GAG	.		0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		A	208200667	T	A	208200667	3	1	24	1	0	0	0	0	1	0	0	0	12159	1551	54	5	82	5	PLXNA2	1	208200667	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3173338	208200667	41049954	80	3227											
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	209801446	209801446	+	Missense_Mutation	SNP	C	C	G	rs145170416		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:209801446C>G	ENST00000356082.4	-	11	1356	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	LAMB3_ENST00000367030.3_Missense_Mutation_p.E408Q|LAMB3_ENST00000391911.1_Missense_Mutation_p.E408Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	408	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		TCACAGCGCTCTCCCTGCACA	0.647											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E408Q		.											.	.	.	0			c.G1222C						.	C	GLN/GLU,GLN/GLU,GLN/GLU	0,4402		0,0,2201	67	47	53		1222,1222,1222	4.2	1	1	dbSNP_134	53	1,8597		0,1,4298	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	29,29,29	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	408/1173,408/1173,408/1173	209801446	1,12999	2201	4299	6500	SO:0001583	missense	3914	exon11			AGCGCTCTCCCTG	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.1222G>C	1.37:g.209801446C>G	ENSP00000348384:p.Glu408Gln	58	0	2185	58	44	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042211	0.35989	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61627	0.09;0.09;0.09	5.12	4.18	0.49190	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.112377	0.64402	D	0.000008	T	0.38268	0.1034	N	0.10837	0.055	0.23325	N	0.997902	B	0.33494	0.414	B	0.33690	0.168	T	0.19289	-1.0310	10	0.23891	T	0.37	.	14.7888	0.69824	0.1456:0.8544:0.0:0.0	.	408	Q13751	LAMB3_HUMAN	Q	408	ENSP00000375778:E408Q;ENSP00000348384:E408Q;ENSP00000355997:E408Q	ENSP00000348384:E408Q	E	-	1	0	LAMB3	207868069	0.852000	0.29690	0.994000	0.49952	0.739000	0.42172	1.805000	0.38883	1.247000	0.43917	0.456000	0.33151	GAG	0.000		0.647	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		G	209801446	C	G	209801446	3	3	24	1	0	0	0	0	1	0	0	0	8640	922	32	5	2348	5	LAMB3	1	209801446	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1600779	209801446	39449175	81	3228											
IRF6	3664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	209969704	209969704	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:209969704A>C	ENST00000367021.3	-	4	540	c.368T>G	c.(367-369)aTc>aGc	p.I123S	IRF6_ENST00000542854.1_Missense_Mutation_p.I28S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	123					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGTTAATGATCGAGCCCTG	0.522										HNSCC(57;0.16)																											p.I123S		.											.	.	.	0			c.T368G						.						83	78	80					1																	209969704		2203	4300	6503	SO:0001583	missense	3664	exon4			TTAATGATCGAGC	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.368T>G	1.37:g.209969704A>C	ENSP00000355988:p.Ile123Ser	36	0		28	6	NM_006147	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292251	0.40594	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.97688	-4.37;-3.87;-4.49	5.63	5.63	0.86233	.	0.319207	0.28332	N	0.015736	D	0.93341	0.7877	N	0.14661	0.345	0.53688	D	0.999974	B	0.18461	0.028	B	0.09377	0.004	D	0.90833	0.4718	9	.	.	.	.	15.5434	0.76074	1.0:0.0:0.0:0.0	.	123	O14896	IRF6_HUMAN	S	123;28;123	ENSP00000355988:I123S;ENSP00000440532:I28S;ENSP00000403855:I123S	.	I	-	2	0	IRF6	208036327	1.000000	0.71417	0.982000	0.44146	0.860000	0.49131	4.992000	0.63889	2.145000	0.66743	0.533000	0.62120	ATC	.		0.522	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		C	209969704	A	C	209969704	3	2	24	1	0	0	0	0	1	0	0	0	7861	333	12	4	1059	4	IRF6	1	209969704	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	168258	209969704	39280917	82	3229											
IRF6	3664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	209974658	209974658	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:209974658T>G	ENST00000367021.3	-	3	273	c.101A>C	c.(100-102)aAa>aCa	p.K34T	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	34					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTGGAAGCGTTTAGAGTCCCT	0.547										HNSCC(57;0.16)																											p.K34T		.											.	.	.	0			c.A101C						.						87	93	91					1																	209974658		2203	4300	6503	SO:0001583	missense	3664	exon3			AAGCGTTTAGAGT	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.101A>C	1.37:g.209974658T>G	ENSP00000355988:p.Lys34Thr	147	0		183	27	NM_006147	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812956	0.70912	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97505	-4.41;-4.41	6.17	5.05	0.67936	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.083148	0.85682	D	0.000000	D	0.94879	0.8345	N	0.11673	0.155	0.80722	D	1	D	0.56287	0.975	P	0.59221	0.854	D	0.93431	0.6785	9	.	.	.	.	12.092	0.53733	0.0:0.0663:0.0:0.9337	.	34	O14896	IRF6_HUMAN	T	34	ENSP00000355988:K34T;ENSP00000403855:K34T	.	K	-	2	0	IRF6	208041281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.818000	0.69236	1.160000	0.42584	0.533000	0.62120	AAA	.		0.547	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		G	209974658	T	G	209974658	3	3	24	1	0	0	0	0	1	0	0	0	7861	1841	64	4	1330	4	IRF6	1	209974658	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4954	209974658	39275963	83	3230											
INTS7	25896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	212118230	212118230	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:212118230C>T	ENST00000366994.3	-	19	2601	c.2497G>A	c.(2497-2499)Gga>Aga	p.G833R	INTS7_ENST00000366992.3_Missense_Mutation_p.G813R|INTS7_ENST00000440600.2_Missense_Mutation_p.G784R|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.G819R	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	833					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGAACCACTCCCTCTACCTTT	0.502																																					p.G833R		.											.	.	.	0			c.G2497A						.						137	126	130					1																	212118230		2203	4300	6503	SO:0001583	missense	25896	exon19			CCACTCCCTCTAC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2497G>A	1.37:g.212118230C>T	ENSP00000355961:p.Gly833Arg	64	0		46	28	NM_015434	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256311	0.95336	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	D;D;D;D	0.85088	-1.86;-1.94;-1.87;-1.92	5.56	5.56	0.83823	.	0.046832	0.85682	D	0.000000	D	0.92008	0.7468	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	0.979;0.992;1.0;1.0	P;P;D;D	0.97110	0.747;0.838;0.999;1.0	D	0.92378	0.5911	10	0.87932	D	0	-20.4574	19.5159	0.95165	0.0:1.0:0.0:0.0	.	784;813;819;833	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	R	833;819;813;784	ENSP00000355961:G833R;ENSP00000355960:G819R;ENSP00000355959:G813R;ENSP00000388908:G784R	ENSP00000355959:G813R	G	-	1	0	INTS7	210184853	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.442000	0.80503	2.621000	0.88768	0.655000	0.94253	GGA	.		0.502	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		T	212118230	C	T	212118230	3	4	24	1	0	0	0	0	1	0	0	0	7810	632	22	3	399	3	INTS7	1	212118230	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2143572	212118230	37132391	84	3231											
SMYD2	56950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	214503534	214503534	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:214503534C>A	ENST00000366957.5	+	8	751	c.729C>A	c.(727-729)ctC>ctA	p.L243L	SMYD2_ENST00000415093.2_Silent_p.L243L|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	243					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)		ATATTGATCTCCTGTACCCAA	0.438																																					p.L243L		.											.	.	.	0			c.C729A						.						84	75	78					1																	214503534		2203	4300	6503	SO:0001819	synonymous_variant	56950	exon8			TGATCTCCTGTAC	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.729C>A	1.37:g.214503534C>A		100	0		157	34	NM_020197	B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Silent	SNP	ENST00000366957.5	37	CCDS31022.1																																																																																			.		0.438	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		A	214503534	C	A	214503534	2	1	24	1	0	0	0	0	0	0	0	1	14867	842	30	3		3	SMYD2	1	214503534	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2385304	214503534	34747087	85	3232											
GPATCH2	55105	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	217783668	217783668	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:217783668A>C	ENST00000366935.3	-	5	1203	c.1093T>G	c.(1093-1095)Tca>Gca	p.S365A	GPATCH2_ENST00000366934.3_Missense_Mutation_p.S365A	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	365					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)		CCTACCATTGAAGTTGGAGTC	0.343																																					p.S365A													.	GPATCH2	53	0			c.T1093G						.						101	105	104					1																	217783668		2203	4300	6503	SO:0001583	missense	55105	exon5			CCATTGAAGTTGG	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.1093T>G	1.37:g.217783668A>C	ENSP00000355902:p.Ser365Ala	119	1		140	31	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	A	0.952	-0.705997	0.03255	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.44881	1.53;0.91	6.08	2.5	0.30297	.	0.335609	0.30510	N	0.009478	T	0.17619	0.0423	N	0.10874	0.06	0.26537	N	0.974157	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.08452	-1.0721	10	0.36615	T	0.2	.	0.4445	0.00491	0.4095:0.2106:0.1618:0.2181	.	365;365	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	A	365	ENSP00000355902:S365A;ENSP00000355901:S365A	ENSP00000355901:S365A	S	-	1	0	GPATCH2	215850291	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	0.951000	0.29135	0.511000	0.28236	-0.468000	0.05107	TCA	.		0.343	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		C	217783668	A	C	217783668	3	2	24	1	0	0	0	0	1	0	0	0	6617	246	9	4	517	4	GPATCH2	1	217783668	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3280134	217783668	31466953	86	3233											
FBXO28	23219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	224345385	224345385	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:224345385A>G	ENST00000366862.5	+	5	1087	c.1044A>G	c.(1042-1044)cgA>cgG	p.R348R	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	348										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CTCGGAAACGAAAAAAGGCCA	0.468																																					p.R348R		.											.	.	.	0			c.A1044G						.						69	74	72					1																	224345385		2203	4300	6503	SO:0001819	synonymous_variant	23219	exon5			GAAACGAAAAAAG	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"F-boxes /  "other""	29046	protein-coding gene	gene with protein product	"centromere protein 30"	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.1044A>G	1.37:g.224345385A>G		63	0		60	42	NM_015176	E9PEM8|O75070	Silent	SNP	ENST00000366862.5	37	CCDS1539.1																																																																																			.		0.468	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		G	224345385	A	G	224345385	2	3	24	1	0	0	0	0	0	0	0	1	5760	233	9	4		4	FBXO28	1	224345385	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6561717	224345385	24905236	87	3234											
NVL	4931	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	224477340	224477340	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:224477340A>G	ENST00000281701.6	-	13	1680	c.1421T>C	c.(1420-1422)cTc>cCc	p.L474P	NVL_ENST00000361463.3_Missense_Mutation_p.L368P|NVL_ENST00000391875.2_Missense_Mutation_p.L368P|NVL_ENST00000482491.1_Missense_Mutation_p.L198P|NVL_ENST00000340871.4_Missense_Mutation_p.L285P|NVL_ENST00000469075.1_Missense_Mutation_p.L383P	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	474						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CAGTGCCATGAGATCAGCACC	0.433																																					p.L474P		.											.	.	.	0			c.T1421C						.						80	73	75					1																	224477340		2203	4300	6503	SO:0001583	missense	4931	exon13			GCCATGAGATCAG	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1421T>C	1.37:g.224477340A>G	ENSP00000281701:p.Leu474Pro	66	0		67	17	NM_002533	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.921939	0.92319	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463	D;D;D;D;D;D	0.96232	-1.64;-1.64;-1.64;-3.95;-1.64;-1.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.99023	0.9666	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.996	D	0.99194	1.0871	10	0.87932	D	0	-9.7541	16.3483	0.83171	1.0:0.0:0.0:0.0	.	285;383;474	B4DMC4;B4DP98;O15381	.;.;NVL_HUMAN	P	474;368;383;198;285;368	ENSP00000281701:L474P;ENSP00000375747:L368P;ENSP00000417826:L383P;ENSP00000417213:L198P;ENSP00000341362:L285P;ENSP00000354779:L368P	ENSP00000281701:L474P	L	-	2	0	NVL	222543963	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.204000	0.95041	2.254000	0.74563	0.533000	0.62120	CTC	.		0.433	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		G	224477340	A	G	224477340	3	3	24	1	0	0	0	0	1	0	0	0	10819	304	11	4	1193	4	NVL	1	224477340	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	131955	224477340	24773281	88	3235											
WNT3A	89780	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	228194881	228194881	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:228194881G>C	ENST00000284523.1	+	1	130	c.52G>C	c.(52-54)Ggc>Cgc	p.G18R	WNT3A_ENST00000366753.2_Missense_Mutation_p.G18R	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	18					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)				GCAGGCTCTGGGCAGCTACCC	0.721																																					p.G18R		.											.	.	.	0			c.G52C						.						29	25	26					1																	228194881		2200	4299	6499	SO:0001583	missense	89780	exon1			GCTCTGGGCAGCT	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.52G>C	1.37:g.228194881G>C	ENSP00000284523:p.Gly18Arg	41	0		54	33	NM_033131	Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	8.781	0.928148	0.18131	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76448	-1.01;-1.02	3.36	2.43	0.29744	.	1.407350	0.04793	N	0.432047	T	0.60077	0.2241	N	0.08118	0	0.26601	N	0.973029	B;B	0.18461	0.012;0.028	B;B	0.14023	0.01;0.009	T	0.49899	-0.8890	10	0.34782	T	0.22	.	6.8535	0.24028	0.1391:0.0:0.8609:0.0	.	18;18	P56704;Q3SY79	WNT3A_HUMAN;.	R	18	ENSP00000284523:G18R;ENSP00000355715:G18R	ENSP00000284523:G18R	G	+	1	0	WNT3A	226261504	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	1.917000	0.39996	0.542000	0.28846	0.462000	0.41574	GGC	.		0.721	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		C	228194881	G	C	228194881	3	2	24	1	0	0	0	0	1	0	0	0	17438	1232	43	5	54	5	WNT3A	1	228194881	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3717541	228194881	21055740	89	3236											
HIST3H2BB	128312	broad.mit.edu	37	1	228646009	228646009	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:228646009T>G	ENST00000369160.2	+	1	202	c.179T>G	c.(178-180)aTg>aGg	p.M60R	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	60					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				TCCAAGGCCATGGGCATCATG	0.602																																					p.M60R													.	HIST3H2BB	23	0			c.T179G						.						97	92	94					1																	228646009		2203	4296	6499	SO:0001583	missense	128312	exon1			AGGCCATGGGCAT	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"Histones / Replication-dependent"	20514	protein-coding gene	gene with protein product		615046	"histone 3, H2bb"			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.179T>G	1.37:g.228646009T>G	ENSP00000375736:p.Met60Arg	134	0		196	4	NM_175055	A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	17.13	3.311325	0.60414	.	.	ENSG00000196890	ENST00000369160	T	0.70045	-0.45	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.000000	0.56097	D	0.000032	T	0.80706	0.4674	H	0.99590	4.645	0.58432	D	0.999999	B	0.18741	0.03	B	0.21546	0.035	D	0.83766	0.0217	10	0.87932	D	0	.	11.4739	0.50286	0.0:0.0:0.0:1.0	.	60	Q8N257	H2B3B_HUMAN	R	60	ENSP00000375736:M60R	ENSP00000375736:M60R	M	+	2	0	HIST3H2BB	226712632	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.313000	0.78978	2.016000	0.59253	0.477000	0.44152	ATG	.		0.602	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		G	228646009	T	G	228646009	3	3	24	1	0	0	0	0	1	0	0	0	7210	1464	51	4	181	4	HIST3H2BB	1	228646009	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	451128	228646009	20604612	90	3237											
KIAA1804	84451	broad.mit.edu	37	1	233464401	233464409	+	In_Frame_Del	DEL	CCGAGCGCT	CCGAGCGCT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:233464401_233464409delCCGAGCGCT	ENST00000366624.3	+	1	888_896	c.627_635delCCGAGCGCT	c.(625-636)aaccgagcgctg>aag	p.209_212NRAL>K	MLK4_ENST00000366623.3_In_Frame_Del_p.209_212NRAL>K	NM_032435.2	NP_115811.2																					GAGCGCTCAACCGAGCGCTGGCCGCTGCC	0.756																																					p.209_212del													.	KIAA1804	129	0			c.627_635del						.																																			SO:0001651	inframe_deletion	0	exon1			GCTCAACCGAGCG																												ENST00000366624.3:c.627_635delCCGAGCGCT	1.37:g.233464401_233464409delCCGAGCGCT	ENSP00000355583:p.Asn209_Leu212delinsLys	8	0		8	4	NM_032435		In_Frame_Del	DEL	ENST00000366624.3	37	CCDS1598.1																																																																																			.		0.756	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			-	233464409	CCGAGCGCT	-	233464401	7	5	24	1	0	1	0	1	0	0	0	0	8286	506	18	0	629	0	KIAA1804	1	233464401	In_Frame_Del	DEL	CCGAGCGCT	TCGA-W5-AA39-01A-11D-A417-09	4818392	233464401	15786220	91	3238											
NID1	4811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	236175334	236175334	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:236175334T>A	ENST00000264187.6	-	12	2496	c.2414A>T	c.(2413-2415)gAa>gTa	p.E805V	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	805	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	TGGCTGGCATTCATCTACATC	0.483																																					p.E805V		.											.	.	.	0			c.A2414T						.						96	79	85					1																	236175334		2203	4300	6503	SO:0001583	missense	4811	exon12			TGGCATTCATCTA	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.2414A>T	1.37:g.236175334T>A	ENSP00000264187:p.Glu805Val	21	0		34	18	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611780	0.87258	.	.	ENSG00000116962	ENST00000264187	D	0.99800	-6.8	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.95294	3.65	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.96690	0.9510	10	0.87932	D	0	.	15.0773	0.72087	0.0:0.0:0.0:1.0	.	805	P14543	NID1_HUMAN	V	805	ENSP00000264187:E805V	ENSP00000264187:E805V	E	-	2	0	NID1	234241957	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.270000	0.78493	2.182000	0.69389	0.528000	0.53228	GAA	.		0.483	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		A	236175334	T	A	236175334	3	1	24	1	0	0	0	0	1	0	0	0	10453	1783	62	5	1365	5	NID1	1	236175334	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2710933	236175334	13075287	92	3239											
NID1	4811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	236175345	236175345	+	Splice_Site	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:236175345T>C	ENST00000264187.6	-	12	2487		c.e12-2		NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1						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)	CATCTACATCTGTAAAACAGC	0.478																																					.		.											.	.	.	0			c.2405-2A>G						.						82	72	75					1																	236175345		2203	4300	6503	SO:0001630	splice_region_variant	4811	exon13			TACATCTGTAAAA	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.2405-2A>G	1.37:g.236175345T>C		21	0		31	16	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Splice_Site	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626823	0.87560	.	.	ENSG00000116962	ENST00000264187	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0773	0.72087	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NID1	234241968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.182000	0.69389	0.528000	0.53228	.	.		0.478	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	Intron	C	236175345	T	C	236175345	5	2	24	1	0	0	0	0	0	0	1	0	10453	1594	55	4	1376	4	NID1	1	236175345	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	11	236175345	13075276	93	3240											
AKT3	10806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	243663078	243663078	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:243663078T>A	ENST00000366541.3	+	18	2251	c.2133T>A	c.(2131-2133)tcT>tcA	p.S711S	AKT3_ENST00000366540.1_Silent_p.S455S|SDCCAG8_ENST00000343783.6_Silent_p.S566S|SDCCAG8_ENST00000355875.4_Silent_p.S668S|AKT3_ENST00000336199.5_Silent_p.S455S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	711	Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				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)		TGCCACAATCTGATTGCTGAC	0.353																																					p.S711S		.											.	.	.	0			c.T2133A						.						60	62	61					1																	243663078		2203	4300	6503	SO:0001819	synonymous_variant	10806	exon18			ACAATCTGATTGC	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.2133T>A	1.37:g.243663078T>A		56	0		64	28	NM_006642	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	CCDS31075.1																																																																																			.		0.353	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		A	243663078	T	A	243663078	2	1	24	1	0	0	0	0	0	0	0	1	481	1567	55	5		5	AKT3	1	243663078	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7487733	243663078	5587543	94	3241											
HNRNPU	3192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	245019773	245019773	+	Missense_Mutation	SNP	A	A	T	rs111577008		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:245019773A>T	ENST00000283179.9	-	10	2061	c.1898T>A	c.(1897-1899)gTc>gAc	p.V633D	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.V614D|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	633					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)			CATTTTGAGGACCGCATGTTC	0.363																																					p.V633D	NSCLC(33;911 1010 3329 23631 49995)	.											.	.	.	0			c.T1898A						.						186	190	189					1																	245019773		2203	4299	6502	SO:0001583	missense	3192	exon10			TTGAGGACCGCAT	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.1898T>A	1.37:g.245019773A>T	ENSP00000283179:p.Val633Asp	56	0		107	49	NM_031844	O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567295	0.86439	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.47528	0.84;0.84	5.79	5.79	0.91817	.	0.208574	0.42682	D	0.000676	T	0.65984	0.2744	L	0.60067	1.865	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;0.996	P;D;D;P	0.81914	0.879;0.986;0.995;0.897	T	0.68689	-0.5342	10	0.87932	D	0	-10.321	16.1299	0.81422	1.0:0.0:0.0:0.0	.	558;614;633;357	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	D	614;633;558	ENSP00000393151:V614D;ENSP00000283179:V633D	ENSP00000283179:V633D	V	-	2	0	HNRNPU	243086396	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.282000	0.95840	2.215000	0.71742	0.528000	0.53228	GTC	.		0.363	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		T	245019773	A	T	245019773	3	4	24	1	0	0	0	0	1	0	0	0	7300	275	10	5	599	5	HNRNPU	1	245019773	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1356695	245019773	4230848	95	3242											
OR2L2	26246	hgsc.bcm.edu	37	1	248202347	248202347	+	Missense_Mutation	SNP	C	C	T	rs143360089		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:248202347C>T	ENST00000366479.2	+	1	874	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	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)			TACCTATGTACGTCCAAGATC	0.493													c|||	1	0.000199681	0	0	5008	,	,		20656	0		0	False		,,,				2504	0.001				p.R260C		.											OR2L2,right_upper_lobe,carcinoma,0,2	OR2L2	0	0			c.C778T						.	C	CYS/ARG,	1,4405		0,1,2202	152	137	142		778,	-3	0	1	dbSNP_134	142	2,8598		0,2,4298	no	missense,intron	OR2L2,OR2L13	NM_001004686.2,NM_175911.2	180,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,	260/313,	248202347	3,13003	2203	4300	6503	SO:0001583	missense	26246	exon1			TATGTACGTCCAA	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.778C>T	1.37:g.248202347C>T	ENSP00000355435:p.Arg260Cys	76	0		71	3	NM_001004686	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	7.215	0.596219	0.13875	2.27E-4	2.33E-4	ENSG00000203663	ENST00000366479	T	0.35789	1.29	1.9	-3.02	0.05446	GPCR, rhodopsin-like superfamily (1);	1.359230	0.05838	N	0.618748	T	0.23492	0.0568	.	.	.	0.09310	N	1	B	0.22276	0.067	B	0.24269	0.052	T	0.32214	-0.9915	9	0.51188	T	0.08	.	3.5316	0.07778	0.2785:0.466:0.0:0.2555	.	260	Q8NH16	OR2L2_HUMAN	C	260	ENSP00000355435:R260C	ENSP00000355435:R260C	R	+	1	0	OR2L2	246268970	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-0.744000	0.04839	-0.417000	0.07461	0.194000	0.17425	CGT	0.000		0.493	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248202347	C	T	248202347	3	4	24	1	0	0	0	0	1	0	0	0	11046	536	19	1	780	1	OR2L2	1	248202347	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3182574	248202347	1048274	96	3243											
PGBD2	267002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	249211007	249211007	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr1:249211007T>C	ENST00000329291.5	+	3	371	c.224T>C	c.(223-225)cTg>cCg	p.L75P	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.L72P	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	75										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGCAGTGTGCTGCATGCTTCA	0.557																																					p.L75P		.											.	.	.	0			c.T224C						.						74	68	70					1																	249211007		2203	4300	6503	SO:0001583	missense	267002	exon3			GTGTGCTGCATGC	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.224T>C	1.37:g.249211007T>C	ENSP00000331643:p.Leu75Pro	26	0		38	22	NM_170725	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.479670	0.63849	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.15139	2.45;2.45	3.84	3.84	0.44239	.	.	.	.	.	T	0.33847	0.0877	L	0.58101	1.795	0.45066	D	0.998082	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.03103	-1.1072	9	0.49607	T	0.09	-15.2169	9.2192	0.37366	0.0:0.0:0.0:1.0	.	72;75	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	P	75;72	ENSP00000331643:L75P;ENSP00000439950:L72P	ENSP00000331643:L75P	L	+	2	0	PGBD2	247177630	1.000000	0.71417	0.598000	0.28837	0.234000	0.25298	2.728000	0.47319	1.751000	0.51876	0.533000	0.62120	CTG	.		0.557	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			C	249211007	T	C	249211007	3	2	24	1	0	0	0	0	1	0	0	0	11820	1580	55	4	230	4	PGBD2	1	249211007	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1008660	249211007	39614	97	3244											
KCNF1	3754	broad.mit.edu;bcgsc.ca	37	2	11053983	11053983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:11053983delC	ENST00000295082.1	+	1	1921	c.1431delC	c.(1429-1431)atcfs	p.I477fs		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	477					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 activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACACCTTCATCCCCCTCCTGA	0.662																																					p.I477fs													.	KCNF1	70	0			c.1431delC						.						22	28	26					2																	11053983		2189	4274	6463	SO:0001589	frameshift_variant	3754	exon1			CTTCATCCCCCTC	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1431delC	2.37:g.11053983delC	ENSP00000295082:p.Ile477fs	50	0		32	8	NM_002236	O43527|Q585L3	Frame_Shift_Del	DEL	ENST00000295082.1	37	CCDS1676.1																																																																																			.		0.662	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		-	11053983	C	-	11053983	7	5	24	1	0	1	0	1	0	0	0	0	8053	845	30	0	1433	0	KCNF1	2	11053983	Frame_Shift_Del	DEL	C	TCGA-W5-AA39-01A-11D-A417-09		11053983	232145390	98	3245											
PUM2	23369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	20482963	20482963	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:20482963T>G	ENST00000361078.2	-	11	1487	c.1465A>C	c.(1465-1467)Agt>Cgt	p.S489R	PUM2_ENST00000338086.5_Missense_Mutation_p.S489R|PUM2_ENST00000319801.5_Missense_Mutation_p.S489R|PUM2_ENST00000536417.1_Missense_Mutation_p.S433R|PUM2_ENST00000403432.1_Missense_Mutation_p.S489R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	489					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)					GTAAGGCTACTTGCAGTTCCT	0.438																																					p.S489R		.											.	.	.	0			c.A1465C						.						57	60	59					2																	20482963		2203	4300	6503	SO:0001583	missense	23369	exon11			GGCTACTTGCAGT	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.1465A>C	2.37:g.20482963T>G	ENSP00000354370:p.Ser489Arg	86	0		38	13	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	T	16.95	3.264572	0.59431	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.18338	2.22;2.48;2.52;2.25;2.22;2.22	6.03	6.03	0.97812	.	0.226219	0.50627	D	0.000105	T	0.10895	0.0266	N	0.08118	0	0.33939	D	0.642968	B;B;B	0.22983	0.023;0.023;0.078	B;B;B	0.22152	0.017;0.018;0.038	T	0.19063	-1.0317	10	0.29301	T	0.29	-7.0223	16.5602	0.84551	0.0:0.0:0.0:1.0	.	433;489;489	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	R	489;489;489;380;489;433	ENSP00000338173:S489R;ENSP00000354370:S489R;ENSP00000326746:S489R;ENSP00000409905:S380R;ENSP00000385992:S489R;ENSP00000440093:S433R	ENSP00000326746:S489R	S	-	1	0	PUM2	20346444	1.000000	0.71417	0.998000	0.56505	0.796000	0.44982	3.976000	0.56867	2.313000	0.78055	0.454000	0.30748	AGT	.		0.438	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		G	20482963	T	G	20482963	3	3	24	1	0	0	0	0	1	0	0	0	12871	1609	56	4	1769	4	PUM2	2	20482963	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	9428980	20482963	222716410	99	3246											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	21235170	21235170	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:21235170A>G	ENST00000233242.1	-	26	4697	c.4570T>C	c.(4570-4572)Tcc>Ccc	p.S1524P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1524					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)					AGGTAGGAGGAGTTAAACCTC	0.488																																					p.S1524P		.											.	.	.	0			c.T4570C						.						126	126	126					2																	21235170		2203	4300	6503	SO:0001583	missense	338	exon26			AGGAGGAGTTAAA	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.4570T>C	2.37:g.21235170A>G	ENSP00000233242:p.Ser1524Pro	63	0		39	18	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079031	0.76528	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01252	5.1	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000022	T	0.07007	0.0178	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.16778	-1.0391	10	0.51188	T	0.08	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	1524	P04114	APOB_HUMAN	P	1524	ENSP00000233242:S1524P	ENSP00000233242:S1524P	S	-	1	0	APOB	21088675	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.542000	0.67218	2.246000	0.74042	0.533000	0.62120	TCC	.		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21235170	A	G	21235170	3	3	24	1	0	0	0	0	1	0	0	0	785	304	11	4	9137	4	APOB	2	21235170	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	752207	21235170	221964203	100	3247											
ATAD2B	54454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	24103602	24103602	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:24103602T>C	ENST00000238789.5	-	7	1151	c.808A>G	c.(808-810)Ata>Gta	p.I270V		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	270						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAACTTCTATATCTCCATCC	0.368																																					p.I270V		.											.	.	.	0			c.A808G						.						176	149	157					2																	24103602		1833	4100	5933	SO:0001583	missense	54454	exon7			CTTCTATATCTCC	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.808A>G	2.37:g.24103602T>C	ENSP00000238789:p.Ile270Val	67	0		42	16	NM_001242338	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696353	0.30052	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.91237	-2.81;0.92	5.02	5.02	0.67125	.	.	.	.	.	D	0.85461	0.5702	L	0.40543	1.245	0.27869	N	0.940119	B;B	0.30146	0.27;0.042	B;B	0.30316	0.114;0.01	T	0.76984	-0.2756	9	0.30854	T	0.27	.	9.5829	0.39499	0.0:0.0787:0.0:0.9213	.	284;270	C9JG15;Q9ULI0	.;ATD2B_HUMAN	V	270;122;284	ENSP00000238789:I270V;ENSP00000403177:I284V	ENSP00000238789:I270V	I	-	1	0	ATAD2B	23957106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	2.034000	0.60081	0.528000	0.53228	ATA	.		0.368	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		C	24103602	T	C	24103602	3	2	24	1	0	0	0	0	1	0	0	0	1073	1406	49	4	3656	4	ATAD2B	2	24103602	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2868432	24103602	219095771	101	3248											
ATAD2B	54454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	24118774	24118774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:24118774G>A	ENST00000238789.5	-	2	626	c.283C>T	c.(283-285)Caa>Taa	p.Q95*		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	95						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATCAGGTTGTTTCAAAGTG	0.393																																					p.Q95X		.											.	.	.	0			c.C283T						.						109	102	104					2																	24118774		1940	4150	6090	SO:0001587	stop_gained	54454	exon2			CAGGTTGTTTCAA	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.283C>T	2.37:g.24118774G>A	ENSP00000238789:p.Gln95*	54	0		38	15	NM_001242338	B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	38	6.846503	0.97881	.	.	ENSG00000119778	ENST00000238789;ENST00000439915	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7496	0.91809	0.0:0.0:1.0:0.0	.	.	.	.	X	95	.	ENSP00000238789:Q95X	Q	-	1	0	ATAD2B	23972278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.631000	0.74277	2.513000	0.84729	0.655000	0.94253	CAA	.		0.393	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		A	24118774	G	A	24118774	4	1	24	1	0	0	0	0	0	1	0	0	1073	1386	48	3	4201	3	ATAD2B	2	24118774	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	15172	24118774	219080599	102	3249											
ADCY3	109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	25043665	25043665	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:25043665G>A	ENST00000260600.5	-	20	4031	c.3180C>T	c.(3178-3180)caC>caT	p.H1060H	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.H647H	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1060					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)					AGATGTCGTAGTGTGGTTTCC	0.567																																					p.H1060H		.											.	.	.	0			c.C3180T						.						170	141	151					2																	25043665		2203	4300	6503	SO:0001819	synonymous_variant	109	exon20			GTCGTAGTGTGGT	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.3180C>T	2.37:g.25043665G>A		83	0		54	21	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																			.		0.567	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			A	25043665	G	A	25043665	2	1	24	1	0	0	0	0	0	0	0	1	295	1020	36	3		3	ADCY3	2	25043665	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	924891	25043665	218155708	103	3250											
ZNF513	130557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	27601102	27601102	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:27601102G>A	ENST00000323703.6	-	4	1134	c.936C>T	c.(934-936)ttC>ttT	p.F312F	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.F250F	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	312					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)					AGGTCCAAGGGAATAGCAGCT	0.652																																					p.F312F		.											.	.	.	0			c.C936T						.						39	41	40					2																	27601102		2203	4300	6503	SO:0001819	synonymous_variant	130557	exon4			CCAAGGGAATAGC	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.936C>T	2.37:g.27601102G>A		51	0		21	14	NM_144631	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	CCDS1751.1																																																																																			.		0.652	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		A	27601102	G	A	27601102	2	1	24	1	0	0	0	0	0	0	0	1	18006	1165	41	3		3	ZNF513	2	27601102	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2557437	27601102	215598271	104	3251											
C2orf71	388939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	29295281	29295281	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:29295281T>A	ENST00000331664.5	-	1	1846	c.1847A>T	c.(1846-1848)cAg>cTg	p.Q616L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	616					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						GAGGTCCCTCTGGACCCTTCG	0.632																																					p.Q616L		.											.	.	.	0			c.A1847T						.						33	35	35					2																	29295281		2028	4182	6210	SO:0001583	missense	388939	exon1			TCCCTCTGGACCC		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.1847A>T	2.37:g.29295281T>A	ENSP00000332809:p.Gln616Leu	18	0		14	7	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640159	0.87760	.	.	ENSG00000179270	ENST00000331664	T	0.36157	1.27	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.71581	2.175	0.50313	D	0.999869	D	0.89917	1.0	D	0.91635	0.999	T	0.64262	-0.6449	10	0.72032	D	0.01	-19.1155	15.3007	0.73949	0.0:0.0:0.0:1.0	.	616	A6NGG8	CB071_HUMAN	L	616	ENSP00000332809:Q616L	ENSP00000332809:Q616L	Q	-	2	0	C2orf71	29148785	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.268000	0.78473	2.023000	0.59567	0.459000	0.35465	CAG	.		0.632	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		A	29295281	T	A	29295281	3	1	24	1	0	0	0	0	1	0	0	0	2198	1580	55	5	2027	5	C2orf71	2	29295281	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1694179	29295281	213904092	105	3252											
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	32667184	32667184	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:32667184T>C	ENST00000421745.2	+	18	4130	c.3996T>C	c.(3994-3996)gtT>gtC	p.V1332V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1332				V -> L (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)			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)					AGAAGCTTGTTAATACTCTTT	0.373																																					p.V1332V	Pancreas(94;175 1509 16028 18060 45422)	.											.	.	.	0			c.T3996C						.						59	63	62					2																	32667184		2203	4300	6503	SO:0001819	synonymous_variant	57448	exon18			GCTTGTTAATACT	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.3996T>C	2.37:g.32667184T>C		81	0		47	20	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																			.		0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32667184	T	C	32667184	2	2	24	1	0	0	0	0	0	0	0	1	1440	1741	61	4		4	BIRC6	2	32667184	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3371903	32667184	210532189	106	3253											
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	32678936	32678936	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:32678936T>G	ENST00000421745.2	+	23	4813	c.4679T>G	c.(4678-4680)cTt>cGt	p.L1560R		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1560					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)					CTCACTGGACTTTTGGAAGTT	0.398																																					p.L1560R	Pancreas(94;175 1509 16028 18060 45422)	.											BIRC6_ENST00000421745,NS,carcinoma,0,2	BIRC6_ENST00000421745	0	0			c.T4679G						.						198	179	185					2																	32678936		2203	4300	6503	SO:0001583	missense	57448	exon23			CTGGACTTTTGGA	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.4679T>G	2.37:g.32678936T>G	ENSP00000393596:p.Leu1560Arg	115	0		63	25	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959819	0.92791	.	.	ENSG00000115760	ENST00000421745	D	0.88354	-2.37	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	D	0.94016	0.8083	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.94676	0.7861	10	0.87932	D	0	.	15.7375	0.77856	0.0:0.0:0.0:1.0	.	1560	Q9NR09	BIRC6_HUMAN	R	1560	ENSP00000393596:L1560R	ENSP00000393596:L1560R	L	+	2	0	BIRC6	32532440	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	7.977000	0.88081	2.124000	0.65301	0.477000	0.44152	CTT	.		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32678936	T	G	32678936	3	3	24	1	0	0	0	0	1	0	0	0	1440	1609	56	4	4769	4	BIRC6	2	32678936	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	11752	32678936	210520437	107	3254											
STRN	6801	broad.mit.edu;bcgsc.ca	37	2	37084999	37084999	+	Splice_Site	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:37084999C>G	ENST00000263918.4	-	14	1845	c.1837G>C	c.(1837-1839)Gaa>Caa	p.E613Q	STRN_ENST00000379213.2_Splice_Site_p.E564Q	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	613					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)				AAGTATGTACCTTTAGTATCA	0.338																																					p.E613Q													.	STRN	71	0			c.G1837C						.						39	41	40					2																	37084999		2203	4300	6503	SO:0001630	splice_region_variant	6801	exon14			ATGTACCTTTAGT	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.1837+1G>C	2.37:g.37084999C>G		50	0		14	7	NM_003162	Q3KP65|Q53TQ8|Q9NP38	Splice_Site	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768968	0.49680	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.29397	1.57;1.57	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.270973	0.42548	D	0.000696	T	0.34948	0.0915	L	0.45470	1.425	0.54753	D	0.999985	P;B	0.35745	0.518;0.036	B;B	0.41619	0.361;0.09	T	0.07539	-1.0767	9	.	.	.	-9.7776	18.1307	0.89600	0.0:1.0:0.0:0.0	.	564;613	O43815-2;O43815	.;STRN_HUMAN	Q	613;588;564	ENSP00000263918:E613Q;ENSP00000368513:E564Q	.	E	-	1	0	STRN	36938503	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.298000	0.59067	2.363000	0.80096	0.484000	0.47621	GAA	.		0.338	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		Missense_Mutation	G	37084999	C	G	37084999	5	3	24	1	0	0	0	0	0	0	1	0	15376	695	24	5	525	5	STRN	2	37084999	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4406063	37084999	206114374	108	3255											
SPTBN1	6711	broad.mit.edu;bcgsc.ca	37	2	54857084	54857084	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:54857084A>G	ENST00000356805.4	+	15	3006	c.2725A>G	c.(2725-2727)Aac>Gac	p.N909D	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N896D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	909					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)			TGCAGTGGTGAACCAGATTGC	0.542																																					p.N909D													.	SPTBN1	378	0			c.A2725G						.						80	74	76					2																	54857084		2203	4300	6503	SO:0001583	missense	0	exon15			GTGGTGAACCAGA		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.2725A>G	2.37:g.54857084A>G	ENSP00000349259:p.Asn909Asp	20	0		6	3	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704172	0.88924	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	M	0.88640	2.97	0.58432	D	0.999996	P;P	0.48764	0.915;0.849	P;P	0.59012	0.584;0.85	T	0.77552	-0.2545	10	0.87932	D	0	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	896;909	Q01082-3;Q01082	.;SPTB2_HUMAN	D	909;896	ENSP00000349259:N909D;ENSP00000334156:N896D	ENSP00000334156:N896D	N	+	1	0	SPTBN1	54710588	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.281000	0.95811	2.220000	0.72140	0.533000	0.62120	AAC	.		0.542	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			G	54857084	A	G	54857084	3	3	24	1	0	0	0	0	1	0	0	0	15166	246	9	4	2892	4	SPTBN1	2	54857084	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	17772085	54857084	188342289	109	3256											
REL	5966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	61149151	61149151	+	Silent	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:61149151G>C	ENST00000295025.8	+	11	1661	c.1341G>C	c.(1339-1341)ctG>ctC	p.L447L	REL_ENST00000394479.3_Silent_p.L415L	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	447					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)			CACCATTCCTGAGAATACCTG	0.468			A		Hodgkin Lymphoma																																p.L447L		.		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	.	.	.	0			c.G1341C						.						95	88	90					2																	61149151		2203	4300	6503	SO:0001819	synonymous_variant	5966	exon11			ATTCCTGAGAATA	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.1341G>C	2.37:g.61149151G>C		53	0		35	17	NM_002908	Q17RU2|Q2PNZ7|Q6LDY0	Silent	SNP	ENST00000295025.8	37	CCDS1864.1																																																																																			.		0.468	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		C	61149151	G	C	61149151	2	2	24	1	0	0	0	0	0	0	0	1	13260	1277	45	5		5	REL	2	61149151	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	6292067	61149151	182050222	110	3257											
USP34	9736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	61523963	61523963	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:61523963A>C	ENST00000398571.2	-	30	4302	c.4226T>G	c.(4225-4227)aTg>aGg	p.M1409R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1409					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)			CTGGAATGCCATCAACATATT	0.428																																					p.M1409R		.											.	.	.	0			c.T4226G						.						185	178	180					2																	61523963		1918	4140	6058	SO:0001583	missense	9736	exon30			AATGCCATCAACA	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.4226T>G	2.37:g.61523963A>C	ENSP00000381577:p.Met1409Arg	73	0		41	15	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	8.939	0.965294	0.18583	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.02890	4.12	5.55	-0.0147	0.13979	.	0.302638	0.37761	N	0.001958	T	0.00998	0.0033	N	0.01874	-0.695	0.26183	N	0.979692	B	0.02656	0.0	B	0.06405	0.002	T	0.47156	-0.9139	10	0.19147	T	0.46	.	4.1772	0.10358	0.3894:0.0:0.2895:0.3211	.	1409	Q70CQ2	UBP34_HUMAN	R	1257;1257;1409	ENSP00000381577:M1409R	ENSP00000263989:M1257R	M	-	2	0	USP34	61377467	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.073000	0.50057	0.076000	0.16826	0.528000	0.53228	ATG	.		0.428	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61523963	A	C	61523963	3	2	24	1	0	0	0	0	1	0	0	0	17114	217	8	4	6618	4	USP34	2	61523963	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	374812	61523963	181675410	111	3258											
CCT4	10575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	62100224	62100224	+	Silent	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:62100224A>T	ENST00000394440.3	-	10	1334	c.1038T>A	c.(1036-1038)gcT>gcA	p.A346A	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Silent_p.A316A|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Silent_p.A290A|CCT4_ENST00000544185.1_Silent_p.A196A	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	346					'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)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GGTCAATATGAGCAACTGGCT	0.368																																					p.A346A		.											.	.	.	0			c.T1038A						.						154	161	159					2																	62100224		2203	4300	6503	SO:0001819	synonymous_variant	10575	exon10			AATATGAGCAACT		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1038T>A	2.37:g.62100224A>T		111	0		56	24	NM_006430	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Silent	SNP	ENST00000394440.3	37	CCDS33206.1																																																																																			.		0.368	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			T	62100224	A	T	62100224	2	4	24	1	0	0	0	0	0	0	0	1	2962	291	11	5		5	CCT4	2	62100224	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	576261	62100224	181099149	112	3259											
CEP68	23177	bcgsc.ca	37	2	65299502	65299502	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:65299502G>A	ENST00000377990.2	+	3	1475	c.1272G>A	c.(1270-1272)cgG>cgA	p.R424R	CEP68_ENST00000546106.1_Silent_p.R424R|CEP68_ENST00000260569.4_Silent_p.R424R|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_Silent_p.R36R|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	424					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						CGAAGGACCGGCTGACTATAG	0.632																																					p.R424R													.	CEP68	69	0			c.G1272A						.						57	58	58					2																	65299502		2203	4300	6503	SO:0001819	synonymous_variant	23177	exon3			GGACCGGCTGACT	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.1272G>A	2.37:g.65299502G>A		21	0		14	3	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	CCDS1880.2																																																																																			.		0.632	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		A	65299502	G	A	65299502	2	1	24	1	0	0	0	0	0	0	0	1	3265	1190	42	3		3	CEP68	2	65299502	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3199278	65299502	177899871	113	3260											
ASPRV1	151516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	70188309	70188309	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:70188309G>A	ENST00000320256.4	-	1	1088	c.512C>T	c.(511-513)gCc>gTc	p.A171V	PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GACCCCAAAGGCCTTCAGGAG	0.577																																					p.A171V		.											.	.	.	0			c.C512T						.						42	45	44					2																	70188309		2203	4300	6503	SO:0001583	missense	151516	exon1			CCAAAGGCCTTCA	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.512C>T	2.37:g.70188309G>A	ENSP00000315383:p.Ala171Val	35	0		22	10	NM_152792		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657994	0.29425	.	.	ENSG00000244617	ENST00000320256	T	0.50813	0.73	5.35	3.47	0.39725	.	0.911151	0.09078	N	0.851783	T	0.36580	0.0972	L	0.27053	0.805	0.09310	N	1	B	0.26935	0.164	B	0.25405	0.06	T	0.25222	-1.0138	10	0.34782	T	0.22	-1.6393	11.268	0.49122	0.0:0.0:0.6982:0.3018	.	171	Q53RT3	APRV1_HUMAN	V	171	ENSP00000315383:A171V	ENSP00000315383:A171V	A	-	2	0	ASPRV1	70041813	0.700000	0.27796	0.081000	0.20488	0.582000	0.36321	1.843000	0.39259	0.563000	0.29222	0.561000	0.74099	GCC	.		0.577	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		A	70188309	G	A	70188309	3	1	24	1	0	0	0	0	1	0	0	0	1059	1203	42	3	523	3	ASPRV1	2	70188309	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	4888807	70188309	173011064	114	3261											
MCEE	84693	hgsc.bcm.edu;broad.mit.edu	37	2	71351654	71351654	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:71351654T>G	ENST00000244217.5	-	2	77	c.60A>C	c.(58-60)caA>caC	p.Q20H	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	20					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						GAATGGGAGCTTGAAGTCTGG	0.398																																					p.Q20H		.											.	.	.	0			c.A60C						.						73	80	78					2																	71351654		2203	4300	6503	SO:0001583	missense	84693	exon2			GGGAGCTTGAAGT	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.60A>C	2.37:g.71351654T>G	ENSP00000244217:p.Gln20His	14	0		7	4	NM_032601	Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	T	9.416	1.081659	0.20309	.	.	ENSG00000124370	ENST00000244217	T	0.64991	-0.13	5.33	-9.86	0.00473	.	0.645442	0.16801	N	0.198985	T	0.31295	0.0792	L	0.28192	0.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21177	-1.0253	10	0.14656	T	0.56	-6.2894	3.445	0.07477	0.1882:0.4648:0.0956:0.2514	.	20	Q96PE7	MCEE_HUMAN	H	20	ENSP00000244217:Q20H	ENSP00000244217:Q20H	Q	-	3	2	MCEE	71205162	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.615000	0.05597	-2.191000	0.00756	-1.134000	0.01955	CAA	.		0.398	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		G	71351654	T	G	71351654	3	3	24	1	0	0	0	0	1	0	0	0	9415	1606	56	4	478	4	MCEE	2	71351654	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1163345	71351654	171847719	115	3262											
EGR4	1961	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	73518868	73518868	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:73518868C>T	ENST00000545030.1	-	2	1561	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	EGR4_ENST00000436467.2_Missense_Mutation_p.R393H	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	496					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						CTCGTCGGAGCGCGCAAAGCT	0.687																																					p.R496H		.											.	.	.	0			c.G1487A						.						44	39	41					2																	73518868		2203	4300	6503	SO:0001583	missense	1961	exon2			TCGGAGCGCGCAA		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.1487G>A	2.37:g.73518868C>T	ENSP00000445626:p.Arg496His	22	0		12	6	NM_001965	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824197	0.90955	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.08370	3.1;3.1	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	0.17959	0.0431	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.984;0.996	T	0.03077	-1.1075	10	0.87932	D	0	-19.7805	16.5595	0.84535	0.0:1.0:0.0:0.0	.	393;496	Q05215;G3V1T5	EGR4_HUMAN;.	H	496;393	ENSP00000445626:R496H;ENSP00000419687:R393H	ENSP00000419687:R393H	R	-	2	0	EGR4	73372376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.602000	0.82796	2.478000	0.83669	0.655000	0.94253	CGC	.		0.687	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		T	73518868	C	T	73518868	3	4	24	1	0	0	0	0	1	0	0	0	4988	768	27	1	286	1	EGR4	2	73518868	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2167214	73518868	169680505	116	3263											
HK2	3099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	75100419	75100419	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:75100419G>T	ENST00000290573.2	+	5	1112	c.512G>T	c.(511-513)tGg>tTg	p.W171L	HK2_ENST00000409174.1_Missense_Mutation_p.W143L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	171	Hexokinase type-1 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						CTGGTCTCATGGACCAAGGGA	0.527																																					p.W171L		.											.	.	.	0			c.G512T						.						117	122	121					2																	75100419		2203	4300	6503	SO:0001583	missense	3099	exon5			TCTCATGGACCAA		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.512G>T	2.37:g.75100419G>T	ENSP00000290573:p.Trp171Leu	37	0		35	19	NM_000189	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642043	0.87859	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99660	-6.32;-6.32	5.1	5.1	0.69264	Hexokinase, conserved site (1);Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97050	0.9763	10	0.87932	D	0	-17.9825	16.3899	0.83531	0.0:0.0:1.0:0.0	.	171	P52789	HXK2_HUMAN	L	171;171;143	ENSP00000290573:W171L;ENSP00000387140:W143L	ENSP00000290573:W171L	W	+	2	0	HK2	74953927	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	9.597000	0.98273	2.802000	0.96397	0.561000	0.74099	TGG	.		0.527	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75100419	G	T	75100419	3	4	24	1	0	0	0	0	1	0	0	0	7218	1357	47	3	530	3	HK2	2	75100419	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1581551	75100419	168098954	117	3264											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	84930673	84930673	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:84930673A>C	ENST00000237449.6	+	49	8224	c.8216A>C	c.(8215-8217)gAa>gCa	p.E2739A	DNAH6_ENST00000389394.3_Missense_Mutation_p.E2739A			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2739	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(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						GTGGATCAAGAAAGTGCCGAT	0.378																																					p.E2739A		.											.	.	.	0			c.A8216C						.						68	60	63					2																	84930673		692	1591	2283	SO:0001583	missense	1768	exon50			ATCAAGAAAGTGC	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.8216A>C	2.37:g.84930673A>C	ENSP00000237449:p.Glu2739Ala	35	0		17	7	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956623	0.34565	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.77620	-1.11;-1.11	5.79	5.79	0.91817	Dynein heavy chain, coiled coil stalk (1);	.	.	.	.	T	0.62962	0.2471	N	0.16307	0.4	0.80722	D	1	B	0.15930	0.015	B	0.19946	0.027	T	0.59048	-0.7527	9	0.09843	T	0.71	.	15.1136	0.72380	1.0:0.0:0.0:0.0	.	2739	Q9C0G6	DYH6_HUMAN	A	2739	ENSP00000374045:E2739A;ENSP00000237449:E2739A	ENSP00000237449:E2739A	E	+	2	0	DNAH6	84784184	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.532000	0.81985	2.208000	0.71279	0.460000	0.39030	GAA	.		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		C	84930673	A	C	84930673	3	2	24	1	0	0	0	0	1	0	0	0	4619	246	9	4	8410	4	DNAH6	2	84930673	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	9830254	84930673	158268700	118	3265											
VAMP5	10791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	85820227	85820227	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:85820227A>T	ENST00000306384.4	+	3	381	c.298A>T	c.(298-300)Agt>Tgt	p.S100C	RNF181_ENST00000441634.1_5'Flank|RNF181_ENST00000306368.4_5'Flank	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	100					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						CAGTGACAGCAGTAGTGCCCC	0.597																																					p.S100C		.											.	.	.	0			c.A298T						.						230	180	197					2																	85820227		2203	4300	6503	SO:0001583	missense	10791	exon3			GACAGCAGTAGTG	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.298A>T	2.37:g.85820227A>T	ENSP00000305647:p.Ser100Cys	36	0		19	7	NM_006634	Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683457	0.47991	.	.	ENSG00000168899	ENST00000306384	.	.	.	4.55	2.04	0.26737	.	1.005910	0.08003	N	0.989143	T	0.49966	0.1588	M	0.66939	2.045	0.09310	N	1	D	0.63046	0.992	P	0.52710	0.707	T	0.36601	-0.9741	9	0.72032	D	0.01	.	4.7446	0.13031	0.7051:0.1921:0.1028:0.0	.	100	O95183	VAMP5_HUMAN	C	100	.	ENSP00000305647:S100C	S	+	1	0	VAMP5	85673738	0.001000	0.12720	0.007000	0.13788	0.778000	0.44026	1.002000	0.29796	0.764000	0.33197	-0.313000	0.08912	AGT	.		0.597	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		T	85820227	A	T	85820227	3	4	24	1	0	0	0	0	1	0	0	0	17165	188	7	5	308	5	VAMP5	2	85820227	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	889554	85820227	157379146	119	3266											
MRPL35	51318	hgsc.bcm.edu	37	2	86437740	86437740	+	Silent	SNP	C	C	T	rs1052060		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:86437740C>T	ENST00000337109.4	+	4	550	c.516C>T	c.(514-516)taC>taT	p.Y172Y	MRPL35_ENST00000605125.1_3'UTR|MRPL35_ENST00000254644.8_Intron|MRPL35_ENST00000409180.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	172					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.Y172Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GAAACTGGTACGTTGATGATC	0.373													C|||	1	0.000199681	0	0.0014	5008	,	,		17403	0		0	False		,,,				2504	0				p.Y172Y		.											MRPL35,NS,carcinoma,0,1	MRPL35	0	1	Substitution - coding silent(1)	lung(1)	c.C516T						.						101	94	96					2																	86437740		2203	4300	6503	SO:0001819	synonymous_variant	51318	exon4			CTGGTACGTTGAT	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.516C>T	2.37:g.86437740C>T		69	0		42	2	NM_016622	A6NKV6|B2RB93|Q658U7|Q8WWA2	Silent	SNP	ENST00000337109.4	37	CCDS1988.1																																																																																			.		0.373	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		T	86437740	C	T	86437740	2	4	24	1	0	0	0	0	0	0	0	1	9836	547	19	1		1	MRPL35	2	86437740	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	617513	86437740	156761633	120	3267											
KDM3A	55818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	86697428	86697428	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:86697428G>A	ENST00000409556.1	+	12	1986	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	KDM3A_ENST00000542128.1_Missense_Mutation_p.A489T|KDM3A_ENST00000312912.5_Missense_Mutation_p.A541T|KDM3A_ENST00000409064.1_Missense_Mutation_p.A541T|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	541					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						GAACATCGTGGCACAGTTGCC	0.507																																					p.A541T	NSCLC(96;1150 1523 6936 46253 49736)	.											.	.	.	0			c.G1621A						.						151	133	139					2																	86697428		2203	4300	6503	SO:0001583	missense	55818	exon11			ATCGTGGCACAGT	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.1621G>A	2.37:g.86697428G>A	ENSP00000386660:p.Ala541Thr	86	0		53	19	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834889	0.71373	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.86	5.86	0.93980	.	0.075086	0.56097	D	0.000038	T	0.63931	0.2553	L	0.40543	1.245	0.43426	D	0.995588	P;B	0.40332	0.713;0.104	B;B	0.43783	0.431;0.04	T	0.66988	-0.5784	10	0.72032	D	0.01	.	14.0194	0.64545	0.0:0.2502:0.7498:0.0	.	489;541	F5H070;Q9Y4C1	.;KDM3A_HUMAN	T	541;541;541;541;489	ENSP00000386660:A541T;ENSP00000323659:A541T;ENSP00000386516:A541T;ENSP00000438324:A489T	ENSP00000323659:A541T	A	+	1	0	KDM3A	86550939	1.000000	0.71417	0.426000	0.26672	0.927000	0.56198	5.703000	0.68340	2.778000	0.95560	0.655000	0.94253	GCA	.		0.507	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		A	86697428	G	A	86697428	3	1	24	1	0	0	0	0	1	0	0	0	8153	1203	42	3	1659	3	KDM3A	2	86697428	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	259688	86697428	156501945	121	3268											
ZC3H6	376940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	113079392	113079392	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:113079392A>G	ENST00000409871.1	+	8	1437	c.1036A>G	c.(1036-1038)Aaa>Gaa	p.K346E	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K346E	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	346							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGACAACTGTAAATTTTCCCA	0.308																																					p.K346E		.											.	.	.	0			c.A1036G						.						47	42	43					2																	113079392		1801	4067	5868	SO:0001583	missense	376940	exon8			AACTGTAAATTTT	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.1036A>G	2.37:g.113079392A>G	ENSP00000386764:p.Lys346Glu	125	0		73	38	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.946368	0.92593	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.40756	1.02;1.02	5.54	5.54	0.83059	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.31845	0.965	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.52449	-0.8574	10	0.45353	T	0.12	-25.9529	15.9801	0.80102	1.0:0.0:0.0:0.0	.	346	P61129	ZC3H6_HUMAN	E	346;346;323	ENSP00000386764:K346E;ENSP00000340298:K346E	ENSP00000340298:K346E	K	+	1	0	ZC3H6	112795863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.887000	0.92456	2.230000	0.72887	0.528000	0.53228	AAA	.		0.308	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		G	113079392	A	G	113079392	3	3	24	1	0	0	0	0	1	0	0	0	17619	363	13	4	1066	4	ZC3H6	2	113079392	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	26381964	113079392	130119981	122	3269											
TTL	150465	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	113258837	113258837	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:113258837A>C	ENST00000233336.6	+	4	715	c.524A>C	c.(523-525)aAc>aCc	p.N175T		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	175	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTCATAGACAACCAGGGCCAA	0.463			T	ETV6	ALL																																p.N175T		.		Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	.	.	.	0			c.A524C						.						87	81	83					2																	113258837		2203	4300	6503	SO:0001583	missense	150465	exon4			TAGACAACCAGGG		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.524A>C	2.37:g.113258837A>C	ENSP00000233336:p.Asn175Thr	240	0		123	54	NM_153712	Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.342450	0.24339	.	.	ENSG00000114999	ENST00000233336	T	0.05382	3.45	5.45	1.54	0.23209	.	0.471637	0.23896	N	0.043489	T	0.05318	0.0141	L	0.46614	1.455	0.36209	D	0.851239	B	0.06786	0.001	B	0.08055	0.003	T	0.37197	-0.9716	10	0.19590	T	0.45	.	5.7354	0.18063	0.5879:0.2635:0.1486:0.0	.	175	Q8NG68	TTL_HUMAN	T	175	ENSP00000233336:N175T	ENSP00000233336:N175T	N	+	2	0	TTL	112975308	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	4.773000	0.62331	0.022000	0.15160	0.374000	0.22700	AAC	.		0.463	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		C	113258837	A	C	113258837	3	2	24	1	0	0	0	0	1	0	0	0	16770	43	2	4	538	4	TTL	2	113258837	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	179445	113258837	129940536	123	3270											
PAX8	7849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	114002103	114002103	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:114002103C>T	ENST00000429538.3	-	4	484	c.290G>A	c.(289-291)cGc>cAc	p.R97H	AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R97H|PAX8_ENST00000263335.7_Missense_Mutation_p.R97H|PAX8_ENST00000397647.3_Missense_Mutation_p.R97H|PAX8_ENST00000348715.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	97	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						AGGGTTCTGGCGTTTGTAGTC	0.587			T	PPARG	follicular thyroid		Thyroid dysgenesis																														p.R97H	Ovarian(188;7 2067 9084 29802 29892)	.		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	.	.	.	0			c.G290A						.						185	203	197					2																	114002103		2193	4298	6491	SO:0001583	missense	7849	exon4			TTCTGGCGTTTGT	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.290G>A	2.37:g.114002103C>T	ENSP00000395498:p.Arg97His	40	0		33	17	NM_013952	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410121	0.83340	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98;-5.98	5.32	4.43	0.53597	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.053373	0.64402	D	0.000001	D	0.99357	0.9774	M	0.70787	2.145	0.80722	D	1	P;D;D;P;P	0.89917	0.879;1.0;1.0;0.923;0.744	B;P;D;B;B	0.78314	0.126;0.881;0.991;0.171;0.171	D	0.98945	1.0792	10	0.87932	D	0	.	13.7248	0.62752	0.0:0.8443:0.1557:0.0	.	97;97;97;97;97	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	H	97	ENSP00000263335:R97H;ENSP00000380768:R97H;ENSP00000314750:R97H;ENSP00000395498:R97H;ENSP00000263334:R97H	ENSP00000263334:R97H	R	-	2	0	PAX8	113718573	1.000000	0.71417	0.857000	0.33713	0.951000	0.60555	4.973000	0.63763	1.224000	0.43551	0.655000	0.94253	CGC	.		0.587	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			T	114002103	C	T	114002103	3	4	24	1	0	0	0	0	1	0	0	0	11524	768	27	1	973	1	PAX8	2	114002103	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	743266	114002103	129197270	124	3271											
MAP3K2	10746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	128087578	128087578	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:128087578T>G	ENST00000409947.1	-	7	667	c.385A>C	c.(385-387)Aat>Cat	p.N129H	MAP3K2_ENST00000344908.5_Missense_Mutation_p.N129H			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	129					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)	GGTTCTAAATTAGTAGCCTAC	0.363																																					p.N129H		.											.	.	.	0			c.A385C						.						120	116	117					2																	128087578		1820	4074	5894	SO:0001583	missense	10746	exon6			CTAAATTAGTAGC	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.385A>C	2.37:g.128087578T>G	ENSP00000387246:p.Asn129His	135	0		72	32	NM_006609	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	t	8.660	0.900254	0.17686	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.66815	-0.23;-0.23	5.6	4.44	0.53790	.	0.573963	0.19863	N	0.104362	T	0.50820	0.1638	N	0.08118	0	0.26145	N	0.980222	B	0.20261	0.043	B	0.32022	0.139	T	0.50389	-0.8834	10	0.46703	T	0.11	.	13.2634	0.60120	0.0:0.0:0.1326:0.8674	.	129	Q9Y2U5	M3K2_HUMAN	H	129	ENSP00000387246:N129H;ENSP00000343463:N129H	ENSP00000343463:N129H	N	-	1	0	MAP3K2	127804048	1.000000	0.71417	0.995000	0.50966	0.333000	0.28666	3.375000	0.52410	1.057000	0.40506	-0.264000	0.10439	AAT	.		0.363	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		G	128087578	T	G	128087578	3	3	24	1	0	0	0	0	1	0	0	0	9288	1754	61	4	1518	4	MAP3K2	2	128087578	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	14085475	128087578	115111795	125	3272											
WDR33	55339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	128471295	128471295	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:128471295T>G	ENST00000322313.4	-	18	3328	c.3170A>C	c.(3169-3171)gAt>gCt	p.D1057A		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1057					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)		TTCCCTGTGATCAGGGGGAAA	0.662																																					p.D1057A		.											.	.	.	0			c.A3170C						.						59	64	62					2																	128471295		2203	4300	6503	SO:0001583	missense	55339	exon18			CTGTGATCAGGGG		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.3170A>C	2.37:g.128471295T>G	ENSP00000325377:p.Asp1057Ala	73	0		55	25	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391935	0.83011	.	.	ENSG00000136709	ENST00000322313	D	0.90004	-2.6	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.79058	0.4382	N	0.08118	0	0.80722	D	1	P	0.37781	0.608	B	0.33960	0.173	T	0.82764	-0.0296	10	0.72032	D	0.01	-12.7067	16.1592	0.81686	0.0:0.0:0.0:1.0	.	1057	Q9C0J8	WDR33_HUMAN	A	1057	ENSP00000325377:D1057A	ENSP00000325377:D1057A	D	-	2	0	WDR33	128187765	0.998000	0.40836	0.993000	0.49108	0.987000	0.75469	6.066000	0.71185	2.210000	0.71456	0.533000	0.62120	GAT	.		0.662	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		G	128471295	T	G	128471295	3	3	24	1	0	0	0	0	1	0	0	0	17336	1435	50	4	860	4	WDR33	2	128471295	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	383717	128471295	114728078	126	3273											
POTEF	728378	hgsc.bcm.edu	37	2	130832686	130832686	+	Missense_Mutation	SNP	G	G	A	rs376041561		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:130832686G>A	ENST00000409914.2	-	17	2758	c.2359C>T	c.(2359-2361)Cac>Tac	p.H787Y	POTEF_ENST00000357462.5_Missense_Mutation_p.H787Y	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	787	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H787N(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGGTGTGGTGCCAGATCTTC	0.592																																					p.H787Y		.											POTEF,NS,carcinoma,0,1	POTEF	0	1	Substitution - Missense(1)	lung(1)	c.C2359T						.						50	54	52					2																	130832686		2200	4297	6497	SO:0001583	missense	728378	exon17			TGTGGTGCCAGAT	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.2359C>T	2.37:g.130832686G>A	ENSP00000386786:p.His787Tyr	77	0		52	3	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.829377	0.50845	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97256	-4.31;-4.31	.	.	.	.	.	.	.	.	D	0.96793	0.8953	M	0.84846	2.72	0.80722	D	1	B	0.26120	0.142	B	0.40506	0.331	D	0.94238	0.7482	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	787	A5A3E0	POTEF_HUMAN	Y	787	ENSP00000350052:H787Y;ENSP00000386786:H787Y	ENSP00000350052:H787Y	H	-	1	0	POTEF	130549156	1.000000	0.71417	0.225000	0.23894	0.227000	0.25037	6.509000	0.73725	0.119000	0.18210	0.121000	0.15741	CAC	.		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130832686	G	A	130832686	3	1	24	1	0	0	0	0	1	0	0	0	12304	1319	46	3	872	3	POTEF	2	130832686	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2361391	130832686	112366687	127	3274											
CCDC74A	90557	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	132285743	132285743	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:132285743T>C	ENST00000295171.6	+	1	338	c.200T>C	c.(199-201)aTg>aCg	p.M67T	CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.M67T	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	67										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CACTCGGAGATGCTGGCCAAG	0.647																																					p.M67T		.											.	.	.	0			c.T200C						.						37	36	36					2																	132285743		2203	4300	6503	SO:0001583	missense	90557	exon1			CGGAGATGCTGGC		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.200T>C	2.37:g.132285743T>C	ENSP00000295171:p.Met67Thr	95	0		70	17	NM_001258304	Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.660819	0.00772	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.35605	1.3;1.3	2.79	1.89	0.25635	.	0.388346	0.18113	N	0.151289	T	0.06962	0.0177	N	0.00197	-1.87	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.31223	-0.9951	10	0.05833	T	0.94	-4.4475	7.2041	0.25897	0.0:0.8509:0.0:0.1491	.	67;67;67	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	T	67	ENSP00000295171:M67T;ENSP00000387009:M67T	ENSP00000295171:M67T	M	+	2	0	CCDC74A	132002213	0.926000	0.31397	0.999000	0.59377	0.509000	0.34042	0.775000	0.26689	0.178000	0.19917	0.113000	0.15668	ATG	.		0.647	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		C	132285743	T	C	132285743	3	2	24	1	0	0	0	0	1	0	0	0	2854	1464	51	4	202	4	CCDC74A	2	132285743	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1453057	132285743	110913630	128	3275											
UBXN4	23190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	136513166	136513166	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:136513166T>G	ENST00000272638.9	+	5	724	c.413T>G	c.(412-414)tTt>tGt	p.F138C	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	138					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCTGCGTCATTTGAACCTAAC	0.403																																					p.F138C		.											.	.	.	0			c.T413G						.						98	93	95					2																	136513166		1858	4105	5963	SO:0001583	missense	23190	exon5			CGTCATTTGAACC	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.413T>G	2.37:g.136513166T>G	ENSP00000272638:p.Phe138Cys	40	0		21	7	NM_014607	A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480285	0.26598	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.42900	0.96	5.51	1.44	0.22558	.	0.801112	0.11437	N	0.564202	T	0.25531	0.0621	N	0.22421	0.69	0.30261	N	0.793124	B	0.02656	0.0	B	0.01281	0.0	T	0.20472	-1.0274	10	0.38643	T	0.18	.	5.3289	0.15922	0.2734:0.0:0.2978:0.4289	.	138	Q92575	UBXN4_HUMAN	C	138;120	ENSP00000272638:F138C	ENSP00000272638:F138C	F	+	2	0	UBXN4	136229636	0.095000	0.21747	0.997000	0.53966	0.667000	0.39255	-0.030000	0.12308	0.344000	0.23847	0.455000	0.32223	TTT	.		0.403	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		G	136513166	T	G	136513166	3	3	24	1	0	0	0	0	1	0	0	0	16965	1841	64	4	431	4	UBXN4	2	136513166	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4227423	136513166	106686207	129	3276											
ACVR2A	92	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	148676088	148676088	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:148676088G>A	ENST00000241416.7	+	7	1525	c.889G>A	c.(889-891)Gct>Act	p.A297T	ACVR2A_ENST00000535787.1_Missense_Mutation_p.A189T|ACVR2A_ENST00000404590.1_Missense_Mutation_p.A297T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	297	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGAAACCATGGCTAGAGGATT	0.378																																					p.A297T		.											.	.	.	0			c.G889A						.						110	107	108					2																	148676088		2203	4300	6503	SO:0001583	missense	92	exon7			ACCATGGCTAGAG		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.889G>A	2.37:g.148676088G>A	ENSP00000241416:p.Ala297Thr	87	0		35	25	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552266	0.86127	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.94862	-3.54;-3.54;-3.54	5.39	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052637	0.85682	D	0.000000	D	0.96935	0.8999	M	0.87682	2.9	0.80722	D	1	D	0.64830	0.994	D	0.65323	0.934	D	0.96575	0.9426	10	0.72032	D	0.01	.	12.2827	0.54774	0.0:0.1297:0.7353:0.1351	.	297	P27037	AVR2A_HUMAN	T	297;189;297	ENSP00000241416:A297T;ENSP00000439988:A189T;ENSP00000384338:A297T	ENSP00000241416:A297T	A	+	1	0	ACVR2A	148392558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	0.616000	0.30141	0.563000	0.77884	GCT	.		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		A	148676088	G	A	148676088	3	1	24	1	0	0	0	0	1	0	0	0	223	1203	42	3	915	3	ACVR2A	2	148676088	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	12162922	148676088	94523285	130	3277											
UPP2	151531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	158977952	158977952	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:158977952T>G	ENST00000005756.4	+	5	680	c.486T>G	c.(484-486)gaT>gaG	p.D162E	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.D219E|UPP2_ENST00000605860.1_Missense_Mutation_p.D219E	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	162					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)	TAATAACGGATATAGCTGTAG	0.398																																					p.D219E		.											.	.	.	0			c.T657G						.						218	223	221					2																	158977952		2203	4299	6502	SO:0001583	missense	151531	exon7			AACGGATATAGCT	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.486T>G	2.37:g.158977952T>G	ENSP00000005756:p.Asp162Glu	116	0		71	24	NM_001135098	B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.702355	0.00719	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.87966	-2.32;-2.32	5.52	-2.81	0.05805	Nucleoside phosphorylase domain (1);	0.097549	0.64402	D	0.000002	T	0.74718	0.3753	L	0.32530	0.975	0.32777	N	0.50296	B	0.10296	0.003	B	0.12156	0.007	T	0.63915	-0.6529	10	0.06625	T	0.88	.	13.0204	0.58784	0.0:0.6223:0.0:0.3777	.	162	O95045	UPP2_HUMAN	E	219;162	ENSP00000387230:D219E;ENSP00000005756:D162E	ENSP00000005756:D162E	D	+	3	2	UPP2	158686198	0.001000	0.12720	0.001000	0.08648	0.044000	0.14063	-0.531000	0.06171	-0.383000	0.07858	0.459000	0.35465	GAT	.		0.398	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		G	158977952	T	G	158977952	3	3	24	1	0	0	0	0	1	0	0	0	17062	1403	49	4	683	4	UPP2	2	158977952	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	10301864	158977952	84221421	131	3278											
TBR1	10716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	162273323	162273323	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:162273323C>T	ENST00000389554.3	+	1	719	c.402C>T	c.(400-402)caC>caT	p.H134H	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	134					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GACCGGCGCACCCCGCCTTCT	0.667																																					p.H134H		.											.	.	.	0			c.C402T						.						77	85	82					2																	162273323		2202	4298	6500	SO:0001819	synonymous_variant	10716	exon1			GGCGCACCCCGCC	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.402C>T	2.37:g.162273323C>T		39	0		27	15	NM_006593	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	CCDS33310.1																																																																																			.		0.667	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		T	162273323	C	T	162273323	2	4	24	1	0	0	0	0	0	0	0	1	15694	506	18	3		3	TBR1	2	162273323	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3295371	162273323	80926050	132	3279											
STK39	27347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	169038515	169038515	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:169038515T>G	ENST00000355999.4	-	2	999	c.294A>C	c.(292-294)aaA>aaC	p.K98N		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TGGTCTGGCATTTTTCCAAGT	0.443																																					p.K98N		.											.,2	.	95	0			c.A294C						.						243	226	232					2																	169038515		1932	4116	6048	SO:0001583	missense	27347	exon2			CTGGCATTTTTCC	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"STE20/SPS1 homolog (yeast)"	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.294A>C	2.37:g.169038515T>G	ENSP00000348278:p.Lys98Asn	48	0		32	14	NM_013233	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392197	0.83011	.	.	ENSG00000198648	ENST00000355999	T	0.66280	-0.2	6.17	3.77	0.43336	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	0.66538	0.2799	L	0.31371	0.925	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.66779	-0.5837	10	0.87932	D	0	0.4881	9.983	0.41824	0.0:0.1394:0.0:0.8606	.	98	Q9UEW8	STK39_HUMAN	N	98	ENSP00000348278:K98N	ENSP00000348278:K98N	K	-	3	2	STK39	168746761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.180000	0.50895	0.542000	0.28846	0.533000	0.62120	AAA	.		0.443	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		G	169038515	T	G	169038515	3	3	24	1	0	0	0	0	1	0	0	0	15352	1490	52	4	1411	4	STK39	2	169038515	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6765192	169038515	74160858	133	3280											
ABCB11	8647	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	169820752	169820752	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:169820752A>C	ENST00000263817.6	-	18	2266	c.2142T>G	c.(2140-2142)gtT>gtG	p.V714V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	714					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)	TATGATCTACAACAGCTAATG	0.478																																					p.V714V		.											.	.	.	0			c.T2142G						.						67	85	79					2																	169820752		1927	4148	6075	SO:0001819	synonymous_variant	8647	exon18			ATCTACAACAGCT	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.2142T>G	2.37:g.169820752A>C		58	0		50	24	NM_003742	Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																			.		0.478	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		C	169820752	A	C	169820752	2	2	24	1	0	0	0	0	0	0	0	1	42	117	5	4		4	ABCB11	2	169820752	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	782237	169820752	73378621	134	3281											
UBR3	130507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	170734063	170734063	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:170734063A>G	ENST00000272793.5	+	4	954	c.904A>G	c.(904-906)Agc>Ggc	p.S302G	UBR3_ENST00000418381.1_Missense_Mutation_p.S302G			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	302					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						AGCTTTAAAGAGCTCTGGACT	0.348																																					p.S302G		.											.	.	.	0			c.A904G						.						209	182	190					2																	170734063		692	1591	2283	SO:0001583	missense	130507	exon4			TTAAAGAGCTCTG	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.904A>G	2.37:g.170734063A>G	ENSP00000272793:p.Ser302Gly	85	0		55	30	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	A	13.85	2.358965	0.41801	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.53640	0.61;0.61	5.58	4.44	0.53790	.	.	.	.	.	T	0.22126	0.0533	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15694	-1.0428	9	0.23302	T	0.38	.	3.2536	0.06823	0.6514:0.0:0.3486:0.0	.	302	Q6ZT12	UBR3_HUMAN	G	302	ENSP00000272793:S302G;ENSP00000396068:S302G	ENSP00000272793:S302G	S	+	1	0	UBR3	170442309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.041000	0.64196	2.119000	0.64992	0.482000	0.46254	AGC	.		0.348	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		G	170734063	A	G	170734063	3	3	24	1	0	0	0	0	1	0	0	0	16952	304	11	4	918	4	UBR3	2	170734063	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	913311	170734063	72465310	135	3282											
GPR155	151556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	175346540	175346540	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:175346540A>G	ENST00000392552.2	-	2	383	c.145T>C	c.(145-147)Tgc>Cgc	p.C49R	GPR155_ENST00000295500.4_Missense_Mutation_p.C49R|GPR155_ENST00000392551.2_Missense_Mutation_p.C49R	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	49					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATGCCAAAGCATTCCAGTAAG	0.433																																					p.C49R		.											.	.	.	0			c.T145C						.						99	92	94					2																	175346540		2203	4300	6503	SO:0001583	missense	151556	exon2			CAAAGCATTCCAG	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.145T>C	2.37:g.175346540A>G	ENSP00000376335:p.Cys49Arg	35	0		26	17	NM_001267051	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243739	0.79912	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.52526	0.66;0.66;0.66	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77816	-0.2447	10	0.87932	D	0	-9.3762	16.1199	0.81342	1.0:0.0:0.0:0.0	.	49	Q7Z3F1	GP155_HUMAN	R	49	ENSP00000376335:C49R;ENSP00000376334:C49R;ENSP00000295500:C49R	ENSP00000295500:C49R	C	-	1	0	GPR155	175054786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.305000	0.96197	2.194000	0.70268	0.533000	0.62120	TGC	.		0.433	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		G	175346540	A	G	175346540	3	3	24	1	0	0	0	0	1	0	0	0	6686	217	8	4	2527	4	GPR155	2	175346540	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4612477	175346540	67852833	136	3283											
ZC3H15	55854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	187351163	187351163	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:187351163A>G	ENST00000337859.6	+	1	281	c.54A>G	c.(52-54)aaA>aaG	p.K18K	ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	18					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CGGAGCAAAAAAAGAAGGAGA	0.622																																					p.K18K		.											.	.	.	0			c.A54G						.						57	73	68					2																	187351163		1898	4100	5998	SO:0001819	synonymous_variant	55854	exon1			GCAAAAAAAGAAG		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.54A>G	2.37:g.187351163A>G		59	0		52	23	NM_018471	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	ENST00000337859.6	37	CCDS42791.1																																																																																			.		0.622	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		G	187351163	A	G	187351163	2	3	24	1	0	0	0	0	0	0	0	1	17615	11	1	4		4	ZC3H15	2	187351163	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	12004623	187351163	55848210	137	3284											
STAT1	6772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	191859926	191859926	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:191859926T>C	ENST00000361099.3	-	10	1192	c.805A>G	c.(805-807)Agt>Ggt	p.S269G	STAT1_ENST00000409465.1_Missense_Mutation_p.S269G|STAT1_ENST00000392323.2_Missense_Mutation_p.S271G|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.S269G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	269					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)			TGCTGCAGACTCTCCGCAACT	0.423																																					p.S269G		.											.	.	.	0			c.A805G						.						122	106	111					2																	191859926		2203	4300	6503	SO:0001583	missense	6772	exon10			GCAGACTCTCCGC		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.805A>G	2.37:g.191859926T>C	ENSP00000354394:p.Ser269Gly	67	0		35	11	NM_007315	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676398	0.47886	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.66	5.66	0.87406	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.117089	0.85682	D	0.000000	T	0.61476	0.2350	M	0.74881	2.28	0.80722	D	1	B;B	0.24258	0.007;0.1	B;B	0.26310	0.018;0.068	T	0.62464	-0.6849	10	0.66056	D	0.02	-15.406	15.9051	0.79423	0.0:0.0:0.0:1.0	.	269;269	P42224-2;P42224	.;STAT1_HUMAN	G	269;269;269;271	ENSP00000354394:S269G;ENSP00000386244:S269G;ENSP00000376136:S269G;ENSP00000376137:S271G	ENSP00000354394:S269G	S	-	1	0	STAT1	191568171	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.839000	0.62810	2.151000	0.67156	0.455000	0.32223	AGT	.		0.423	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		C	191859926	T	C	191859926	3	2	24	1	0	0	0	0	1	0	0	0	15311	1551	54	4	1515	4	STAT1	2	191859926	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4508763	191859926	51339447	138	3285											
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	196822115	196822115	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:196822115A>G	ENST00000312428.6	-	19	3048	c.2948T>C	c.(2947-2949)gTc>gCc	p.V983A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	983	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						CGTGGCTTGGACTTTGAGCCA	0.493																																					p.V983A		.											.	.	.	0			c.T2948C						.						69	67	68					2																	196822115		1904	4134	6038	SO:0001583	missense	56171	exon19			GCTTGGACTTTGA	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.2948T>C	2.37:g.196822115A>G	ENSP00000311273:p.Val983Ala	55	0		33	17	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.847975	0.91277	.	.	ENSG00000118997	ENST00000312428	T	0.67698	-0.28	5.43	5.43	0.79202	Dynein heavy chain, domain-2 (1);	0.062472	0.64402	D	0.000006	D	0.86264	0.5891	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89859	0.4015	10	0.72032	D	0.01	.	15.7782	0.78240	1.0:0.0:0.0:0.0	.	983	Q8WXX0	DYH7_HUMAN	A	983	ENSP00000311273:V983A	ENSP00000311273:V983A	V	-	2	0	DNAH7	196530360	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.261000	0.95576	2.193000	0.70182	0.459000	0.35465	GTC	.		0.493	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		G	196822115	A	G	196822115	3	3	24	1	0	0	0	0	1	0	0	0	4620	275	10	4	9314	4	DNAH7	2	196822115	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4962189	196822115	46377258	139	3286											
SF3B1	23451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	198288622	198288622	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:198288622A>C	ENST00000335508.6	-	2	196	c.105T>G	c.(103-105)tcT>tcG	p.S35S	SF3B1_ENST00000409915.4_Silent_p.S35S|SF3B1_ENST00000414963.2_Silent_p.S35S|SF3B1_ENST00000487698.1_Silent_p.S35S	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	35					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)			AATAACCTGTAGAATCGAGGC	0.398			Mis		myelodysplastic syndrome																																p.S35S		.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	.	.	.	0			c.T105G						.						96	86	89					2																	198288622		2203	4300	6503	SO:0001819	synonymous_variant	23451	exon2			ACCTGTAGAATCG	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.105T>G	2.37:g.198288622A>C		67	0		39	19	NM_012433	E9PCH3	Silent	SNP	ENST00000335508.6	37	CCDS33356.1																																																																																			.		0.398	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198288622	A	C	198288622	2	2	24	1	0	0	0	0	0	0	0	1	14194	407	15	4		4	SF3B1	2	198288622	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1466507	198288622	44910751	140	3287											
AOX1	316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	201478642	201478642	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:201478642T>C	ENST00000374700.2	+	15	1805	c.1564T>C	c.(1564-1566)Ttc>Ctc	p.F522L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	522					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)	CATCATCAGCTTCCTCTTCAA	0.458																																					p.F522L		.											.	.	.	0			c.T1564C						.						101	98	99					2																	201478642		2203	4300	6503	SO:0001583	missense	316	exon15			ATCAGCTTCCTCT	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.1564T>C	2.37:g.201478642T>C	ENSP00000363832:p.Phe522Leu	30	0		11	6	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290765	0.40494	.	.	ENSG00000138356	ENST00000374700	T	0.23754	1.89	5.33	5.33	0.75918	CO dehydrogenase flavoprotein, C-terminal (3);	0.211604	0.49916	N	0.000136	T	0.24967	0.0606	L	0.44542	1.39	0.53688	D	0.999973	B	0.20164	0.042	B	0.29785	0.107	T	0.05683	-1.0870	10	0.12766	T	0.61	-29.1181	15.4598	0.75346	0.0:0.0:0.0:1.0	.	522	Q06278	ADO_HUMAN	L	522	ENSP00000363832:F522L	ENSP00000363832:F522L	F	+	1	0	AOX1	201186887	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.123000	0.50453	2.234000	0.73211	0.533000	0.62120	TTC	.		0.458	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		C	201478642	T	C	201478642	3	2	24	1	0	0	0	0	1	0	0	0	729	1609	56	4	1622	4	AOX1	2	201478642	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3190020	201478642	41720731	141	3288											
AOX1	316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	201531474	201531474	+	Splice_Site	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:201531474A>T	ENST00000374700.2	+	32	3849	c.3608A>T	c.(3607-3609)cAg>cTg	p.Q1203L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1203					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)	GACATAGGCCAGGTACGTGTA	0.368																																					p.Q1203L		.											.	.	.	0			c.A3608T						.						101	96	98					2																	201531474		2203	4300	6503	SO:0001630	splice_region_variant	316	exon32			TAGGCCAGGTACG	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.3609+1A>T	2.37:g.201531474A>T		85	0		64	27	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.146144	0.77888	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.67698	-0.28;-0.28;-0.28	5.09	5.09	0.68999	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.111370	0.64402	D	0.000006	D	0.89132	0.6628	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93413	0.6770	10	0.87932	D	0	-46.0161	15.3271	0.74172	1.0:0.0:0.0:0.0	.	1203	Q06278	ADO_HUMAN	L	1203;89;43	ENSP00000363832:Q1203L;ENSP00000260930:Q89L;ENSP00000413326:Q43L	ENSP00000260930:Q89L	Q	+	2	0	AOX1	201239719	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	8.661000	0.91125	2.267000	0.75376	0.383000	0.25322	CAG	.		0.368	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	T	201531474	A	T	201531474	5	4	24	1	0	0	0	0	0	0	1	0	729	202	7	5	3734	5	AOX1	2	201531474	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	52832	201531474	41667899	142	3289											
CYP20A1	57404	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	204111487	204111487	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:204111487T>G	ENST00000356079.4	+	3	255	c.132T>G	c.(130-132)aaT>aaG	p.N44K	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.N44K	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	44						integral component of membrane (GO:0016021)|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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAGATGGTAATCTTCCAGATA	0.378																																					p.N44K		.											.	.	.	0			c.T132G						.						232	220	224					2																	204111487		2203	4300	6503	SO:0001583	missense	57404	exon3			TGGTAATCTTCCA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.132T>G	2.37:g.204111487T>G	ENSP00000348380:p.Asn44Lys	79	0		29	13	NM_177538	Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542276	0.65198	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.71461	-0.57;-0.57;-0.57	5.4	2.99	0.34606	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.69823	2.125	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.79035	-0.1968	10	0.87932	D	0	-21.6818	8.8703	0.35311	0.0:0.3068:0.0:0.6932	.	44;44	E9PHG5;Q6UW02	.;CP20A_HUMAN	K	44	ENSP00000348380:N44K;ENSP00000407860:N44K;ENSP00000411341:N44K	ENSP00000348380:N44K	N	+	3	2	CYP20A1	203819732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.727000	0.25999	0.355000	0.24131	0.460000	0.39030	AAT	.		0.378	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		G	204111487	T	G	204111487	3	3	24	1	0	0	0	0	1	0	0	0	4161	1432	50	4	142	4	CYP20A1	2	204111487	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2580013	204111487	39087886	143	3290											
PIKFYVE	200576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	209189656	209189656	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:209189656C>G	ENST00000264380.4	+	19	2511	c.2353C>G	c.(2353-2355)Cga>Gga	p.R785G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	785					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						ACGAATCAGTCGAATGACCCA	0.353																																					p.R785G		.											.	.	.	0			c.C2353G						.						125	121	122					2																	209189656		2203	4300	6503	SO:0001583	missense	200576	exon19			ATCAGTCGAATGA	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.2353C>G	2.37:g.209189656C>G	ENSP00000264380:p.Arg785Gly	79	0		54	19	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484294	0.63962	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.69685	-0.42;-0.42	5.62	4.74	0.60224	.	0.078596	0.52532	D	0.000062	D	0.84844	0.5562	M	0.90814	3.15	0.80722	D	1	D;D	0.71674	0.978;0.998	P;D	0.79108	0.792;0.992	D	0.88645	0.3178	10	0.87932	D	0	-17.2161	16.2805	0.82673	0.1336:0.8664:0.0:0.0	.	785;729	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	G	785;361;729	ENSP00000264380:R785G;ENSP00000405736:R729G	ENSP00000264380:R785G	R	+	1	2	PIKFYVE	208897901	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.991000	0.56973	1.489000	0.48450	0.650000	0.86243	CGA	.		0.353	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209189656	C	G	209189656	3	3	24	1	0	0	0	0	1	0	0	0	11963	876	31	5	2434	5	PIKFYVE	2	209189656	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5078169	209189656	34009717	144	3291											
VWC2L	402117	hgsc.bcm.edu	37	2	215279158	215279158	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:215279158G>T	ENST00000312504.5	+	2	1043	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	VWC2L_ENST00000427124.1_Missense_Mutation_p.D81Y|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	81	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	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)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CTGTGCTCTAGATGGACCTGT	0.458																																					p.D81Y		.											VWC2L,NS,carcinoma,0,1	VWC2L	0	0			c.G241T						.						90	91	90					2																	215279158		1936	4131	6067	SO:0001583	missense	402117	exon2			GCTCTAGATGGAC	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"von Willebrand factor C domain-containing protein 2-like"				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.241G>T	2.37:g.215279158G>T	ENSP00000308976:p.Asp81Tyr	91	0		68	3	NM_001080500	A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815823	0.90790	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.65916	-0.18;-0.18	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.73180	-0.4064	10	0.72032	D	0.01	-7.0145	20.6634	0.99662	0.0:0.0:1.0:0.0	.	81;81	B7ZW27;B2RUY7	.;VWC2L_HUMAN	Y	81	ENSP00000308976:D81Y;ENSP00000403779:D81Y	ENSP00000308976:D81Y	D	+	1	0	VWC2L	214987403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.894000	0.99253	0.655000	0.94253	GAT	.		0.458	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		T	215279158	G	T	215279158	3	4	24	1	0	0	0	0	1	0	0	0	17293	942	33	3	243	3	VWC2L	2	215279158	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	6089502	215279158	27920215	145	3292											
MREG	55686	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	216809713	216809713	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:216809713A>C	ENST00000263268.6	-	5	813	c.518T>G	c.(517-519)cTc>cGc	p.L173R		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	173						plasma membrane (GO:0005886)				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		AAGTGCAATGAGACGGTCCTG	0.458																																					p.L173R		.											.	.	.	0			c.T518G						.						43	41	42					2																	216809713		1886	4124	6010	SO:0001583	missense	55686	exon5			GCAATGAGACGGT	AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.518T>G	2.37:g.216809713A>C	ENSP00000263268:p.Leu173Arg	19	0		18	9	NM_018000	Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Missense_Mutation	SNP	ENST00000263268.6	37	CCDS46513.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076031	0.76415	.	.	ENSG00000118242	ENST00000236976;ENST00000263268;ENST00000439791;ENST00000424992	T	0.68903	-0.36	6.17	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.62723	1.935	0.51012	D	0.999902	B	0.23249	0.082	B	0.22386	0.039	T	0.62224	-0.6899	10	0.87932	D	0	-12.6509	10.5378	0.45016	0.8378:0.1622:0.0:0.0	.	173	Q8N565	MREG_HUMAN	R	173;173;119;119	ENSP00000263268:L173R	ENSP00000236976:L173R	L	-	2	0	MREG	216517958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.963000	0.70372	1.130000	0.42092	0.533000	0.62120	CTC	.		0.458	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337297.1	NM_018000		C	216809713	A	C	216809713	3	2	24	1	0	0	0	0	1	0	0	0	9798	304	11	4	130	4	MREG	2	216809713	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1530555	216809713	26389660	146	3293											
TTLL4	9654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	219603258	219603258	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:219603258T>G	ENST00000392102.1	+	3	1199	c.859T>G	c.(859-861)Ttg>Gtg	p.L287V	TTLL4_ENST00000442769.1_Missense_Mutation_p.L287V|TTLL4_ENST00000457313.1_Missense_Mutation_p.L122V|TTLL4_ENST00000258398.4_Missense_Mutation_p.L287V	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	287					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)		CCATATCGCCTTGTCTACCGC	0.552																																					p.L287V	GBM(172;1818 2053 15407 20943 49753)	.											.	.	.	0			c.T859G						.						139	120	126					2																	219603258		2203	4300	6503	SO:0001583	missense	9654	exon3			ATCGCCTTGTCTA		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.859T>G	2.37:g.219603258T>G	ENSP00000375951:p.Leu287Val	36	0		19	10	NM_014640	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	T	1.437	-0.568582	0.03910	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04406	3.83;4.08;3.63;4.08	4.54	-1.08	0.09936	.	1.516350	0.04177	N	0.325782	T	0.03871	0.0109	L	0.29908	0.895	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	0.44159	-0.9346	10	0.41790	T	0.15	.	0.9827	0.01440	0.1868:0.2835:0.1236:0.4061	.	122;287;287	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	V	122;287;287;287	ENSP00000393332:L122V;ENSP00000375951:L287V;ENSP00000396555:L287V;ENSP00000258398:L287V	ENSP00000258398:L287V	L	+	1	2	TTLL4	219311502	0.001000	0.12720	0.005000	0.12908	0.052000	0.14988	-0.210000	0.09345	-0.417000	0.07461	-0.371000	0.07208	TTG	.		0.552	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		G	219603258	T	G	219603258	3	3	24	1	0	0	0	0	1	0	0	0	16778	1606	56	4	861	4	TTLL4	2	219603258	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2793545	219603258	23596115	147	3294											
ZFAND2B	130617	hgsc.bcm.edu;broad.mit.edu	37	2	220072731	220072731	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:220072731T>C	ENST00000289528.5	+	4	600	c.405T>C	c.(403-405)tcT>tcC	p.S135S	ZFAND2B_ENST00000409594.1_Silent_p.S135S|ZFAND2B_ENST00000409319.1_Silent_p.S135S|ZFAND2B_ENST00000444522.2_Silent_p.S135S|ZFAND2B_ENST00000409097.1_Silent_p.S135S|ZFAND2B_ENST00000409336.1_Silent_p.S135S|ZFAND2B_ENST00000409206.1_Silent_p.S135S|ZFAND2B_ENST00000409217.1_Silent_p.S135S|ZFAND2B_ENST00000409412.1_Silent_p.S135S	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	135						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGATTGCTCTGGGGAGGGGC	0.552																																					p.S135S		.											.	.	.	0			c.T405C						.						77	82	80					2																	220072731		2202	4300	6502	SO:0001819	synonymous_variant	130617	exon4			TTGCTCTGGGGAG	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.405T>C	2.37:g.220072731T>C		11	0		9	4	NM_138802	Q8NB98	Silent	SNP	ENST00000289528.5	37	CCDS2435.1																																																																																			.		0.552	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		C	220072731	T	C	220072731	2	2	24	1	0	0	0	0	0	0	0	1	17676	1567	55	4		4	ZFAND2B	2	220072731	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	469473	220072731	23126642	148	3295											
ZFAND2B	130617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	220072980	220072980	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:220072980T>G	ENST00000289528.5	+	5	632	c.437T>G	c.(436-438)cTt>cGt	p.L146R	ZFAND2B_ENST00000409319.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.L146R|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.L146R|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.L146R|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.L146R|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.L146R|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.L146R	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	146						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTACAGACTTGCTGCCATC	0.522																																					p.L146R		.											.	.	.	0			c.T437G						.						69	58	61					2																	220072980		2203	4300	6503	SO:0001583	missense	130617	exon5			ACAGACTTGCTGC	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.437T>G	2.37:g.220072980T>G	ENSP00000289528:p.Leu146Arg	43	0		19	10	NM_138802	Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882652	0.33255	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.47177	0.88;0.88;0.89;0.85;0.85;0.89;0.89;0.85	5.18	5.18	0.71444	Zinc finger, AN1-type (1);	0.386815	0.27240	N	0.020277	T	0.50769	0.1635	L	0.59436	1.845	0.39174	D	0.962644	D;B;B	0.61697	0.99;0.415;0.08	P;B;B	0.50754	0.649;0.137;0.017	T	0.50874	-0.8776	10	0.25106	T	0.35	-7.4008	11.3405	0.49531	0.0:0.0:0.0:1.0	.	37;146;146	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	R	146	ENSP00000386824:L146R;ENSP00000386399:L146R;ENSP00000289528:L146R;ENSP00000409931:L146R;ENSP00000387179:L146R;ENSP00000386898:L146R;ENSP00000386370:L146R;ENSP00000411334:L146R	ENSP00000289528:L146R	L	+	2	0	ZFAND2B	219781224	0.995000	0.38212	1.000000	0.80357	0.793000	0.44817	1.443000	0.35057	2.165000	0.68154	0.533000	0.62120	CTT	.		0.522	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		G	220072980	T	G	220072980	3	3	24	1	0	0	0	0	1	0	0	0	17676	1609	56	4	455	4	ZFAND2B	2	220072980	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	249	220072980	23126393	149	3296											
ACCN4	55515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	220397059	220397059	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:220397059G>T	ENST00000347842.3	+	4	1273	c.1259G>T	c.(1258-1260)tGg>tTg	p.W420L	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000358078.4_Missense_Mutation_p.W420L	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	420					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)										CCCCAGCCCTGGGGCAACTGC	0.637																																					p.W420L		.											.	.	.	0			c.G1259T						.						43	45	44					2																	220397059		2203	4300	6503	SO:0001583	missense	55515	exon4			AGCCCTGGGGCAA	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.1259G>T	2.37:g.220397059G>T	ENSP00000326627:p.Trp420Leu	34	0		12	6	NM_182847	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749668	0.89753	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65178	-0.14;-0.14	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.82958	0.5150	M	0.92317	3.295	0.80722	D	1	B;D	0.65815	0.097;0.995	B;D	0.69142	0.085;0.962	D	0.88054	0.2789	10	0.87932	D	0	-11.8795	16.5064	0.84273	0.0:0.0:1.0:0.0	.	420;420	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	L	420	ENSP00000326627:W420L;ENSP00000350786:W420L	ENSP00000326627:W420L	W	+	2	0	ACCN4	220105303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.513000	0.98010	2.305000	0.77605	0.561000	0.74099	TGG	.		0.637	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		T	220397059	G	T	220397059	3	4	24	1	0	0	0	0	1	0	0	0	131	1357	47	3	1273	3	ACCN4	2	220397059	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	324079	220397059	22802314	150	3297											
STK11IP	114790	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	220474091	220474091	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:220474091delC	ENST00000456909.1	+	17	2023	c.1933delC	c.(1933-1935)cttfs	p.L645fs	STK11IP_ENST00000295641.10_Frame_Shift_Del_p.L656fs			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	656					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)		TCAGGAGCTGCTTGCCGTGTT	0.647																																					p.L655fs		.											.	.	.	0			c.1965delG						.						32	37	36					2																	220474091		2040	4202	6242	SO:0001589	frameshift_variant	114790	exon17			GAGCTGCTTGCCG	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.1933delC	2.37:g.220474091delC	ENSP00000389383:p.Leu645fs	74	0		62	25	NM_052902	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Frame_Shift_Del	DEL	ENST00000456909.1	37																																																																																				.		0.647	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		-	220474091	C	-	220474091	7	5	24	1	0	1	0	1	0	0	0	0	15335	797	28	0	2032	0	STK11IP	2	220474091	Frame_Shift_Del	DEL	C	TCGA-W5-AA39-01A-11D-A417-09	77032	220474091	22725282	151	3298	21	2									
STK11IP	114790	bcgsc.ca	37	2	220474092	220474092	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:220474092T>G	ENST00000456909.1	+	17	2024	c.1934T>G	c.(1933-1935)cTt>cGt	p.L645R	STK11IP_ENST00000295641.10_Missense_Mutation_p.L656R			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	656					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)		CAGGAGCTGCTTGCCGTGTTG	0.647																																					p.L656R													.	STK11IP	152	0			c.T1967G						.						32	37	35					2																	220474092		2038	4198	6236	SO:0001583	missense	114790	exon17			AGCTGCTTGCCGT	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.1934T>G	2.37:g.220474092T>G	ENSP00000389383:p.Leu645Arg	71	0		61	27	NM_052902	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	T	17.93	3.507984	0.64410	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.07688	3.18;3.17	5.1	5.1	0.69264	.	0.237832	0.36303	N	0.002677	T	0.26376	0.0644	M	0.71581	2.175	0.47584	D	0.999467	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.00738	-1.1587	10	0.87932	D	0	-15.9226	11.237	0.48946	0.0:0.0:0.0:1.0	.	656;656	Q8N1F8-2;Q8N1F8	.;S11IP_HUMAN	R	645;656	ENSP00000389383:L645R;ENSP00000295641:L656R	ENSP00000295641:L656R	L	+	2	0	STK11IP	220182336	0.986000	0.35501	0.945000	0.38365	0.664000	0.39144	2.216000	0.42871	2.145000	0.66743	0.533000	0.62120	CTT	.		0.647	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		G	220474092	T	G	220474092	3	3	24	1	0	0	0	0	1	0	0	0	15335	1609	56	4	2033	4	STK11IP	2	220474092	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1	220474092	22725281	152	3299	21	2									
WDFY1	57590	broad.mit.edu;bcgsc.ca	37	2	224758968	224758968	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:224758968C>T	ENST00000233055.4	-	8	916	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	272						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCTAACATCCATGTTCCAC	0.567																																					p.D272N													.	WDFY1	46	0			c.G814A						.						191	140	157					2																	224758968		2203	4300	6503	SO:0001583	missense	57590	exon8			TAACATCCATGTT	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.814G>A	2.37:g.224758968C>T	ENSP00000233055:p.Asp272Asn	47	0		34	16	NM_020830	Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523155	0.85600	.	.	ENSG00000085449	ENST00000233055	T	0.28895	1.59	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046925	0.85682	D	0.000000	T	0.45236	0.1332	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.08700	-1.0709	10	0.18276	T	0.48	-24.6381	19.9093	0.97021	0.0:1.0:0.0:0.0	.	272	Q8IWB7	WDFY1_HUMAN	N	272	ENSP00000233055:D272N	ENSP00000233055:D272N	D	-	1	0	WDFY1	224467212	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.176000	0.77643	2.713000	0.92767	0.655000	0.94253	GAT	.		0.567	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		T	224758968	C	T	224758968	3	4	24	1	0	0	0	0	1	0	0	0	17317	855	30	3	438	3	WDFY1	2	224758968	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4284876	224758968	18440405	153	3300											
MRPL44	65080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	224828637	224828637	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:224828637T>G	ENST00000258383.3	+	3	882	c.813T>G	c.(811-813)ttT>ttG	p.F271L	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	271	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTTGTATTTTGTTGGCTTAT	0.378																																					p.F271L		.											MRPL44,colon,carcinoma,0,1	MRPL44	0	0			c.T813G						.						97	96	96					2																	224828637		2203	4300	6503	SO:0001583	missense	65080	exon3			GTATTTTGTTGGC	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.813T>G	2.37:g.224828637T>G	ENSP00000258383:p.Phe271Leu	117	0		66	29	NM_022915	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206106	0.58234	.	.	ENSG00000135900	ENST00000258383	T	0.41400	1.0	5.7	2.11	0.27256	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	L	0.36672	1.1	0.58432	D	0.99999	P	0.44090	0.826	P	0.48770	0.589	T	0.09271	-1.0682	10	0.11485	T	0.65	-14.2981	7.6628	0.28413	0.0:0.25:0.0:0.75	.	271	Q9H9J2	RM44_HUMAN	L	271	ENSP00000258383:F271L	ENSP00000258383:F271L	F	+	3	2	MRPL44	224536881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.493000	0.35605	0.447000	0.26695	0.482000	0.46254	TTT	.		0.378	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		G	224828637	T	G	224828637	3	3	24	1	0	0	0	0	1	0	0	0	9846	1809	63	4	823	4	MRPL44	2	224828637	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	69669	224828637	18370736	154	3301											
DOCK10	55619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	225738772	225738772	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:225738772C>A	ENST00000258390.7	-	11	1265	c.1198G>T	c.(1198-1200)Gcc>Tcc	p.A400S	DOCK10_ENST00000409592.3_Missense_Mutation_p.A394S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	400					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)		GAGTTGAGGGCTTTACAGATG	0.378																																					p.A400S		.											.	.	.	0			c.G1198T						.						134	121	125					2																	225738772		1860	4099	5959	SO:0001583	missense	55619	exon11			TGAGGGCTTTACA	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.1198G>T	2.37:g.225738772C>A	ENSP00000258390:p.Ala400Ser	81	0		45	13	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	1.429	-0.570657	0.03910	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.35789	1.29;1.29	5.87	1.5	0.22942	.	0.157081	0.64402	D	0.000016	T	0.08980	0.0222	N	0.01086	-1.025	0.31393	N	0.677643	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.14578	0.003;0.011;0.002	T	0.37865	-0.9687	10	0.02654	T	1	.	6.4538	0.21918	0.2157:0.5614:0.0:0.2229	.	400;400;394	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	S	394;400	ENSP00000386694:A394S;ENSP00000258390:A400S	ENSP00000258390:A400S	A	-	1	0	DOCK10	225447016	1.000000	0.71417	0.998000	0.56505	0.349000	0.29174	3.353000	0.52247	0.199000	0.20427	-1.814000	0.00607	GCC	.		0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			A	225738772	C	A	225738772	3	1	24	1	0	0	0	0	1	0	0	0	4699	797	28	3	5546	3	DOCK10	2	225738772	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	910135	225738772	17460601	155	3302											
IRS1	3667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	227661428	227661428	+	Missense_Mutation	SNP	C	C	T	rs577419348		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:227661428C>T	ENST00000305123.5	-	1	3047	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	676					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)		gGGGCCACCTCCAATGTCAGG	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		17270	0		0	False		,,,				2504	0.001				p.G676E		.											.	.	.	0			c.G2027A						.						51	53	52					2																	227661428		2203	4300	6503	SO:0001583	missense	3667	exon1			CCACCTCCAATGT		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.2027G>A	2.37:g.227661428C>T	ENSP00000304895:p.Gly676Glu	25	0	2321	24	13	NM_005544		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858205	0.71834	.	.	ENSG00000169047	ENST00000305123	T	0.55930	0.49	4.81	1.69	0.24217	.	0.713937	0.12683	N	0.447811	T	0.23688	0.0573	N	0.03608	-0.345	0.09310	N	0.999998	B	0.27498	0.18	B	0.22601	0.04	T	0.14144	-1.0483	10	0.02654	T	1	-1.3629	12.0974	0.53763	0.0:0.4397:0.5603:0.0	.	676	P35568	IRS1_HUMAN	E	676	ENSP00000304895:G676E	ENSP00000304895:G676E	G	-	2	0	IRS1	227369672	0.001000	0.12720	0.607000	0.28956	0.911000	0.54048	0.873000	0.28052	0.558000	0.29135	0.561000	0.74099	GGA	.		0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227661428	C	T	227661428	3	4	24	1	0	0	0	0	1	0	0	0	7867	855	30	3	1705	3	IRS1	2	227661428	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1922656	227661428	15537945	156	3303											
COL4A3	1285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	228118346	228118346	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:228118346A>G	ENST00000396578.3	+	13	919	c.757A>G	c.(757-759)Aac>Gac	p.N253D	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_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)	253	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)		TGGCCCAGATAACAGAACGGT	0.463																																					p.N253D		.											.	.	.	0			c.A757G						.						303	282	289					2																	228118346		1935	4140	6075	SO:0001583	missense	1285	exon13			CCAGATAACAGAA		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.757A>G	2.37:g.228118346A>G	ENSP00000379823:p.Asn253Asp	46	0		35	14	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708495	0.48517	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94138	-3.36	5.59	5.59	0.84812	.	0.324946	0.25894	N	0.027604	D	0.92648	0.7664	N	0.15975	0.35	0.26153	N	0.980112	D;D;P;D	0.76494	0.998;0.996;0.611;0.999	D;D;B;P	0.76071	0.941;0.987;0.31;0.874	D	0.87097	0.2176	10	0.66056	D	0.02	.	12.157	0.54083	1.0:0.0:0.0:0.0	.	253;253;253;253	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	D	253	ENSP00000379823:N253D	ENSP00000323334:N253D	N	+	1	0	COL4A3	227826590	0.990000	0.36364	0.858000	0.33744	0.832000	0.47134	3.322000	0.52007	2.124000	0.65301	0.533000	0.62120	AAC	.		0.463	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		G	228118346	A	G	228118346	3	3	24	1	0	0	0	0	1	0	0	0	3698	362	13	4	807	4	COL4A3	2	228118346	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	456918	228118346	15081027	157	3304											
AGFG1	3267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	228401415	228401415	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:228401415T>G	ENST00000310078.8	+	9	1540	c.1280T>G	c.(1279-1281)tTt>tGt	p.F427C	AGFG1_ENST00000409979.2_Missense_Mutation_p.F451C|AGFG1_ENST00000409315.1_Missense_Mutation_p.F406C|AGFG1_ENST00000409171.1_Missense_Mutation_p.F427C|AGFG1_ENST00000373671.3_Missense_Mutation_p.F387C	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	427					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						CCTGCTCCATTTGGAGGTATG	0.388																																					p.F451C		.											.	.	.	0			c.T1352G						.						103	101	102					2																	228401415		2203	4300	6503	SO:0001583	missense	3267	exon10			CTCCATTTGGAGG		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.1280T>G	2.37:g.228401415T>G	ENSP00000312059:p.Phe427Cys	51	0		38	15	NM_001135187	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.975992	0.74360	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.48201	0.82;1.54;1.34;1.52;1.53	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	L	0.47716	1.5	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.87578	0.998;0.995;0.993;0.996	T	0.59568	-0.7430	10	0.38643	T	0.18	-9.6196	15.026	0.71669	0.0:0.0:0.0:1.0	.	387;427;451;427	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	C	451;436;427;406;387;427	ENSP00000387282:F451C;ENSP00000312059:F427C;ENSP00000387154:F406C;ENSP00000362775:F387C;ENSP00000387218:F427C	ENSP00000312059:F427C	F	+	2	0	AGFG1	228109659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.168000	0.71908	2.289000	0.77006	0.482000	0.46254	TTT	.		0.388	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		G	228401415	T	G	228401415	3	3	24	1	0	0	0	0	1	0	0	0	380	1841	64	4	1390	4	AGFG1	2	228401415	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	283069	228401415	14797958	158	3305											
EIF4E2	9470	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	233422641	233422641	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:233422641T>G	ENST00000258416.3	+	3	856	c.183T>G	c.(181-183)acT>acG	p.T61T	EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409495.1_Silent_p.T61T|EIF4E2_ENST00000409098.1_Silent_p.T61T|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409514.1_Silent_p.T61T	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	61					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	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)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACAACTACACTTTTTGGTACT	0.522																																					p.T61T		.											.	.	.	0			c.T183G						.						113	110	111					2																	233422641		2203	4300	6503	SO:0001819	synonymous_variant	9470	exon3			CTACACTTTTTGG	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"eukaryotic translation initiation factor 4E-like 3"	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.183T>G	2.37:g.233422641T>G		60	0		34	15	NM_004846	B8ZZJ9|O75349	Silent	SNP	ENST00000258416.3	37	CCDS2496.1																																																																																			.		0.522	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846		G	233422641	T	G	233422641	2	3	24	1	0	0	0	0	0	0	0	1	5046	1596	56	4		4	EIF4E2	2	233422641	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5021226	233422641	9776732	159	3306											
GIGYF2	26058	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	233660789	233660809	+	In_Frame_Del	DEL	GGCTTATCTCCAAGACAGTGC	GGCTTATCTCCAAGACAGTGC	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GGCTTATCTCCAAGACAGTGC	GGCTTATCTCCAAGACAGTGC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:233660789_233660809delGGCTTATCTCCAAGACAGTGC	ENST00000409547.1	+	16	1808_1828	c.1497_1517delGGCTTATCTCCAAGACAGTGC	c.(1495-1518)gtggcttatctccaagacagtgca>gta	p.AYLQDSA500del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.AYLQDSA494del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.AYLQDSA521del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.AYLQDSA522del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.AYLQDSA522del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.AYLQDSA331del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.AYLQDSA500del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	500					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.L502L(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)		AGAAAATGGTGGCTTATCTCCAAGACAGTGCACTAGATGAT	0.385																																					p.520_527del		.											.	.	.	1	Substitution - coding silent(1)	breast(1)	c.1559_1579del						.																																			SO:0001651	inframe_deletion	26058	exon16			AATGGTGGCTTAT	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.1497_1517delGGCTTATCTCCAAGACAGTGC	2.37:g.233660789_233660809delGGCTTATCTCCAAGACAGTGC	ENSP00000386537:p.Ala500_Ala506del	67	0		29	11	NM_001103147	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	CCDS33401.1																																																																																			.		0.385	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		-	233660809	GGCTTATCTCCAAGACAGTGC	-	233660789	7	5	24	1	0	1	0	1	0	0	0	0	6404	1335	47	0	1613	0	GIGYF2	2	233660789	In_Frame_Del	DEL	GGCTTATCTCCAAGACAGTGC	TCGA-W5-AA39-01A-11D-A417-09	238148	233660789	9538584	160	3307											
UBE2F	140739	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	238934042	238934042	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:238934042A>G	ENST00000272930.4	+	6	536	c.342A>G	c.(340-342)gaA>gaG	p.E114E	UBE2F_ENST00000409633.1_Silent_p.E114E|UBE2F_ENST00000414443.1_Silent_p.E82E|UBE2F_ENST00000409953.1_Silent_p.E90E|UBE2F_ENST00000409332.1_Silent_p.E92E|UBE2F-SCLY_ENST00000449191.1_Intron	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	114					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		AGACAGGGGAAATATGTCTGA	0.453																																					p.E114E		.											.	.	.	0			c.A342G						.						219	198	205					2																	238934042		2203	4300	6503	SO:0001819	synonymous_variant	140739	exon6			AGGGGAAATATGT	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"Ubiquitin-conjugating enzymes E2"	12480	protein-coding gene	gene with protein product	"NEDD8 conjugating enzyme"					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.342A>G	2.37:g.238934042A>G		39	0		27	13	NM_080678	A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Silent	SNP	ENST00000272930.4	37	CCDS2523.1																																																																																			.		0.453	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		G	238934042	A	G	238934042	2	3	24	1	0	0	0	0	0	0	0	1	16904	11	1	4		4	UBE2F	2	238934042	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5273253	238934042	4265331	161	3308											
ANKMY1	51281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	241451322	241451322	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:241451322T>C	ENST00000272972.3	-	10	2189	c.1975A>G	c.(1975-1977)Agg>Ggg	p.R659G	ANKMY1_ENST00000373318.2_Missense_Mutation_p.R518G|ANKMY1_ENST00000391987.1_Missense_Mutation_p.R659G|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R429G|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R420G|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R597G|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R748G|ANKMY1_ENST00000361678.4_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	659							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)		AGAGCCGTCCTGCCCCCCTCC	0.682																																					p.R659G		.											.	.	.	0			c.A1975G						.						53	54	53					2																	241451322		2203	4300	6503	SO:0001583	missense	51281	exon10			CCGTCCTGCCCCC	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.1975A>G	2.37:g.241451322T>C	ENSP00000272972:p.Arg659Gly	50	0		27	13	NM_016552	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818232	0.50633	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	T;T;T;T;T;T;T	0.72394	-0.19;-0.37;-0.65;-0.65;-0.37;-0.19;-0.59	3.43	-4.08	0.03963	Ankyrin repeat-containing domain (4);	0.089401	0.39834	U	0.001241	T	0.69860	0.3158	L	0.28400	0.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.998;0.999	T	0.68051	-0.5511	10	0.48119	T	0.1	-34.3722	11.6184	0.51102	0.0:0.0:0.6935:0.3065	.	659;429;518;420;659	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6	.;.;.;.;ANKY1_HUMAN	G	518;420;659;659;429;597;748	ENSP00000362415:R518G;ENSP00000384555:R420G;ENSP00000272972:R659G;ENSP00000375847:R659G;ENSP00000362417:R429G;ENSP00000383968:R597G;ENSP00000385887:R748G	ENSP00000272972:R659G	R	-	1	2	ANKMY1	241099995	0.817000	0.29147	0.861000	0.33841	0.600000	0.36913	-0.066000	0.11598	-0.791000	0.04486	0.377000	0.23210	AGG	.		0.682	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		C	241451322	T	C	241451322	3	2	24	1	0	0	0	0	1	0	0	0	634	1579	55	4	882	4	ANKMY1	2	241451322	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2517280	241451322	1748051	162	3309											
SNED1	25992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	242008393	242008393	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:242008393C>A	ENST00000310397.8	+	23	3262	c.3262C>A	c.(3262-3264)Cac>Aac	p.H1088N	SNED1_ENST00000401884.1_Missense_Mutation_p.H1088N|SNED1_ENST00000405547.3_Missense_Mutation_p.H1088N|SNED1_ENST00000342631.6_Missense_Mutation_p.H1088N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1088	Fibronectin type-III 2. {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)		GGGAGAGGAGCACCCCACAGA	0.657																																					p.H1088N		.											.	.	.	0			c.C3262A						.						21	26	24					2																	242008393		2054	4136	6190	SO:0001583	missense	25992	exon23			GAGGAGCACCCCA	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.3262C>A	2.37:g.242008393C>A	ENSP00000308893:p.His1088Asn	73	0		70	27	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194592	0.38806	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.25	3.39	0.38822	Fibronectin, type III (2);	0.595365	0.15726	N	0.247678	T	0.26376	0.0644	N	0.24115	0.695	0.09310	N	0.999998	P;P;B	0.39665	0.682;0.491;0.332	B;B;B	0.33620	0.158;0.085;0.167	T	0.10245	-1.0638	10	0.08837	T	0.75	.	9.1399	0.36897	0.1471:0.7755:0.0:0.0774	.	1088;1088;1088	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	N	1088	ENSP00000384871:H1088N;ENSP00000386007:H1088N;ENSP00000308893:H1088N;ENSP00000342992:H1088N	ENSP00000308893:H1088N	H	+	1	0	SNED1	241657066	0.000000	0.05858	0.002000	0.10522	0.842000	0.47809	0.117000	0.15583	0.551000	0.29008	0.585000	0.79938	CAC	.		0.657	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		A	242008393	C	A	242008393	3	1	24	1	0	0	0	0	1	0	0	0	14890	710	25	3	3352	3	SNED1	2	242008393	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	557071	242008393	1190980	163	3310											
FARP2	9855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	242433442	242433442	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr2:242433442G>A	ENST00000264042.3	+	27	3237	c.3067G>A	c.(3067-3069)Ggg>Agg	p.G1023R	STK25_ENST00000478403.1_5'Flank|STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1023	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GGTGATCCAGGGGGCCAGCAG	0.632																																					p.G1023R		.											.	.	.	0			c.G3067A						.						50	55	53					2																	242433442		2202	4298	6500	SO:0001583	missense	9855	exon27			ATCCAGGGGGCCA	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.3067G>A	2.37:g.242433442G>A	ENSP00000264042:p.Gly1023Arg	57	0		49	19	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819991	0.16678	.	.	ENSG00000006607	ENST00000264042	T	0.74421	-0.84	4.73	-0.864	0.10666	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.336108	0.33438	N	0.004910	T	0.32793	0.0841	N	0.00446	-1.495	0.19775	N	0.999952	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	10	0.32370	T	0.25	.	4.7145	0.12889	0.5669:0.1527:0.2804:0.0	.	1023	O94887	FARP2_HUMAN	R	1023	ENSP00000264042:G1023R	ENSP00000264042:G1023R	G	+	1	0	FARP2	242082115	0.843000	0.29541	0.000000	0.03702	0.021000	0.10359	2.287000	0.43505	-0.336000	0.08438	-0.345000	0.07892	GGG	.		0.632	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			A	242433442	G	A	242433442	3	1	24	1	0	0	0	0	1	0	0	0	5699	1232	43	3	3169	3	FARP2	2	242433442	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	425049	242433442	765931	164	3311											
ITPR1	3708	broad.mit.edu	37	3	4878503	4878503	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:4878503G>T	ENST00000443694.2	+	58	8029	c.8029G>T	c.(8029-8031)Gtc>Ttc	p.V2677F	ITPR1_ENST00000544951.1_Missense_Mutation_p.V655F|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2629F|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2677F|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2677F|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2644F|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2644F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2692					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)	CATGTCATTGGTCAGCAGTGA	0.428																																					p.V2677F													.	ITPR1	659	0			c.G8029T						.						26	26	26					3																	4878503		1922	4133	6055	SO:0001583	missense	3708	exon60			TCATTGGTCAGCA	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.8029G>T	3.37:g.4878503G>T	ENSP00000401671:p.Val2677Phe	44	0		25	4	NM_001168272	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264713	0.95399	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	T;T;T;T;T;D;T	0.83075	0.98;0.98;0.98;0.98;0.98;-1.68;0.98	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	L	0.59436	1.845	0.80722	D	1	D;D;D	0.69078	0.988;0.991;0.997	D;P;D	0.74674	0.921;0.73;0.984	D	0.89199	0.3556	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	655;2692;2644	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	F	2692;2677;2677;2644;1138;2644;2629;655;2677	ENSP00000306253:V2677F;ENSP00000346595:V2677F;ENSP00000405934:V2644F;ENSP00000349597:V2644F;ENSP00000397885:V2629F;ENSP00000440564:V655F;ENSP00000401671:V2677F	ENSP00000306253:V2677F	V	+	1	0	ITPR1	4853503	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.766000	0.98957	2.882000	0.98803	0.655000	0.94253	GTC	.		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4878503	G	T	4878503	3	4	24	1	0	0	0	0	1	0	0	0	7947	1261	44	3	8308	3	ITPR1	3	4878503	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09		4878503	193143927	165	3312											
HRH1	3269	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	11301253	11301253	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:11301253A>G	ENST00000397056.1	+	3	721	c.530A>G	c.(529-531)gAg>gGg	p.E177G	HRH1_ENST00000431010.2_Missense_Mutation_p.E177G|HRH1_ENST00000438284.2_Missense_Mutation_p.E177G	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	177					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)	GTGCGCCGAGAGGACAAGTGT	0.522																																					p.E177G		.											.	.	.	0			c.A530G						.						178	150	159					3																	11301253		2203	4300	6503	SO:0001583	missense	3269	exon3			GCCGAGAGGACAA		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.530A>G	3.37:g.11301253A>G	ENSP00000380247:p.Glu177Gly	26	0		7	5	NM_000861	A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357276	0.24598	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.36157	1.27;1.27;1.27	5.98	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.466272	0.24467	N	0.038270	T	0.32763	0.0840	L	0.52364	1.645	0.18873	N	0.999985	B	0.22541	0.071	B	0.29663	0.105	T	0.16100	-1.0414	10	0.33940	T	0.23	-3.7866	9.2442	0.37515	0.8119:0.1226:0.0655:0.0	.	177	P35367	HRH1_HUMAN	G	177	ENSP00000406705:E177G;ENSP00000397028:E177G;ENSP00000380247:E177G	ENSP00000380247:E177G	E	+	2	0	HRH1	11276253	0.001000	0.12720	0.006000	0.13384	0.603000	0.37013	0.658000	0.24979	2.289000	0.77006	0.533000	0.62120	GAG	.		0.522	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			G	11301253	A	G	11301253	3	3	24	1	0	0	0	0	1	0	0	0	7382	304	11	4	532	4	HRH1	3	11301253	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6422750	11301253	186721177	166	3313											
KCNH8	131096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	19432012	19432012	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:19432012C>A	ENST00000328405.2	+	6	1117	c.851C>A	c.(850-852)tCt>tAt	p.S284Y	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'Flank	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	284					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						GTCAGCAAGTCTGGCCAAGTT	0.358																																					p.S284Y	NSCLC(124;1625 1765 8018 24930 42026)	.											.	.	.	0			c.C851A						.						115	118	117					3																	19432012		2203	4300	6503	SO:0001583	missense	131096	exon6			GCAAGTCTGGCCA	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.851C>A	3.37:g.19432012C>A	ENSP00000328813:p.Ser284Tyr	49	0		24	18	NM_144633	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955420	0.92726	.	.	ENSG00000183960	ENST00000328405	D	0.97138	-4.26	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.31747	U	0.007124	D	0.98036	0.9353	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.973;0.996	D	0.97766	1.0223	9	.	.	.	.	20.0085	0.97443	0.0:1.0:0.0:0.0	.	284;284	B7Z398;Q96L42	.;KCNH8_HUMAN	Y	284	ENSP00000328813:S284Y	.	S	+	2	0	KCNH8	19407016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.723000	0.93209	0.650000	0.86243	TCT	.		0.358	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		A	19432012	C	A	19432012	3	1	24	1	0	0	0	0	1	0	0	0	8065	913	32	3	873	3	KCNH8	3	19432012	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	8130759	19432012	178590418	167	3314											
TGFBR2	7048	hgsc.bcm.edu;bcgsc.ca	37	3	30664759	30664775	+	Intron	DEL	AGACATAGTAAAGTATC	AGACATAGTAAAGTATC	-	rs184395862|rs555904329|rs138262219	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	AGACATAGTAAAGTATC	AGACATAGTAAAGTATC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:30664759_30664775delAGACATAGTAAAGTATC	ENST00000295754.5	+	1	476				TGFBR2_ENST00000359013.4_Splice_Site_p.RHS55fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						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						CCATCCACTGAGACATAGTAAAGTATCATTAATTAAT	0.346																																					p.54_57del		.											.	.	.	0			c.162_169del						.																																			SO:0001627	intron_variant	7048	exon2			CCACTGAGACATA		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.94+16290AGACATAGTAAAGTATC>-	3.37:g.30664759_30664775delAGACATAGTAAAGTATC		99	0		20	4	NM_001024847	B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	ENST00000295754.5	37	CCDS2648.1																																																																																			.		0.346	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			-	30664775	AGACATAGTAAAGTATC	-	30664759	6	5	24	0	1	1	0	1	0	0	0	0	15869	296	11	0		0	TGFBR2	3	30664759	Intron	DEL	AGACATAGTAAAGTATC	TCGA-W5-AA39-01A-11D-A417-09	11232747	30664759	167357671	168	3315											
TGFBR2	7048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	30686364	30686364	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:30686364A>G	ENST00000295754.5	+	2	602	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T99A	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	74					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						CTGCAGCATCACCTCCATCTG	0.418																																					p.T99A		.											.	.	.	0			c.A295G						.						75	67	70					3																	30686364		2203	4300	6503	SO:0001583	missense	7048	exon3			AGCATCACCTCCA		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.220A>G	3.37:g.30686364A>G	ENSP00000295754:p.Thr74Ala	65	0		12	11	NM_001024847	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174179	0.57692	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.84516	-1.86;-1.86	5.66	5.66	0.87406	Transforming growth factor beta receptor 2 ectodomain (1);	0.096340	0.64402	D	0.000001	T	0.81336	0.4801	L	0.41961	1.31	0.53688	D	0.999971	B;B	0.09022	0.0;0.002	B;B	0.19666	0.011;0.026	T	0.76482	-0.2943	10	0.39692	T	0.17	.	14.8777	0.70507	1.0:0.0:0.0:0.0	.	74;99	P37173;D2JYI1	TGFR2_HUMAN;.	A	74;99	ENSP00000295754:T74A;ENSP00000351905:T99A	ENSP00000295754:T74A	T	+	1	0	TGFBR2	30661368	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	5.410000	0.66381	2.147000	0.66899	0.533000	0.62120	ACC	.		0.418	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			G	30686364	A	G	30686364	3	3	24	1	0	0	0	0	1	0	0	0	15869	159	6	4	305	4	TGFBR2	3	30686364	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	21605	30686364	167336066	169	3316											
XYLB	9942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	38401886	38401886	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:38401886T>G	ENST00000207870.3	+	3	287	c.197T>G	c.(196-198)cTa>cGa	p.L66R	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	66					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)		TCTCCAGTACTAATGTGGGTC	0.537																																					p.L66R		.											.	.	.	0			c.T197G						.						257	199	218					3																	38401886		2203	4300	6503	SO:0001583	missense	9942	exon3			CAGTACTAATGTG	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.197T>G	3.37:g.38401886T>G	ENSP00000207870:p.Leu66Arg	37	0		13	11	NM_005108	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059854	0.76074	.	.	ENSG00000093217	ENST00000207870	T	0.44482	0.92	5.32	5.32	0.75619	Carbohydrate kinase, FGGY, N-terminal (1);	0.151906	0.45361	D	0.000376	T	0.47173	0.1431	M	0.69523	2.12	0.80722	D	1	B	0.34290	0.447	B	0.40009	0.316	T	0.41179	-0.9523	10	0.26408	T	0.33	.	13.5419	0.61679	0.0:0.0:0.0:1.0	.	66	O75191	XYLB_HUMAN	R	66	ENSP00000207870:L66R	ENSP00000207870:L66R	L	+	2	0	XYLB	38376890	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.892000	0.63193	2.152000	0.67230	0.533000	0.62120	CTA	.		0.537	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		G	38401886	T	G	38401886	3	3	24	1	0	0	0	0	1	0	0	0	17511	1522	53	4	207	4	XYLB	3	38401886	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7715522	38401886	159620544	170	3317											
MYRIP	25924	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	40231505	40231505	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:40231505G>A	ENST00000302541.6	+	10	1558	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.A317T|MYRIP_ENST00000425621.1_Missense_Mutation_p.A406T|MYRIP_ENST00000539167.1_Missense_Mutation_p.A219T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A406T	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	406	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CTGGAGTGAGGCCTTGAGCAA	0.632																																					p.A406T		.											.	.	.	0			c.G1216A						.						103	93	96					3																	40231505		2203	4300	6503	SO:0001583	missense	25924	exon10			AGTGAGGCCTTGA	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.1216G>A	3.37:g.40231505G>A	ENSP00000301972:p.Ala406Thr	32	0		9	7	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550106	0.65311	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.73	4.67	0.58626	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.117372	0.64402	D	0.000019	T	0.35998	0.0951	L	0.46157	1.445	0.41289	D	0.986963	P;P;B	0.48834	0.916;0.513;0.17	P;B;B	0.50405	0.64;0.103;0.068	T	0.02676	-1.1125	9	.	.	.	.	12.876	0.57989	0.0919:0.0:0.9081:0.0	.	317;406;406	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	T	406;406;406;317;219	ENSP00000398665:A406T;ENSP00000301972:A406T;ENSP00000389323:A406T;ENSP00000379519:A317T;ENSP00000438297:A219T	.	A	+	1	0	MYRIP	40206509	1.000000	0.71417	0.910000	0.35882	0.998000	0.95712	4.740000	0.62087	2.711000	0.92665	0.655000	0.94253	GCC	.		0.632	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		A	40231505	G	A	40231505	3	1	24	1	0	0	0	0	1	0	0	0	10138	1203	42	3	1250	3	MYRIP	3	40231505	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1829619	40231505	157790925	171	3318											
LIMD1	8994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	45637209	45637209	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:45637209T>G	ENST00000273317.4	+	1	859	c.838T>G	c.(838-840)Ttg>Gtg	p.L280V	LIMD1_ENST00000440097.1_Missense_Mutation_p.L280V|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	280					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)		TTCCCCAAACTTGGAGAACGG	0.632																																					p.L280V		.											.	.	.	0			c.T838G						.						49	52	51					3																	45637209		2203	4300	6503	SO:0001583	missense	8994	exon1			CCAAACTTGGAGA	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.838T>G	3.37:g.45637209T>G	ENSP00000273317:p.Leu280Val	77	0		22	16	NM_014240	Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	T	0.182	-1.060968	0.01950	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.57436	0.4;0.59	4.92	1.77	0.24775	.	2.112880	0.02562	N	0.096917	T	0.39517	0.1081	N	0.19112	0.55	0.09310	N	1	B	0.32245	0.361	B	0.32864	0.154	T	0.24728	-1.0152	10	0.16896	T	0.51	.	9.2562	0.37584	0.0:0.7341:0.0:0.2659	.	280	Q9UGP4	LIMD1_HUMAN	V	280	ENSP00000394537:L280V;ENSP00000273317:L280V	ENSP00000273317:L280V	L	+	1	2	LIMD1	45612213	0.010000	0.17322	0.013000	0.15412	0.038000	0.13279	0.187000	0.16998	0.028000	0.15324	-0.379000	0.06801	TTG	.		0.632	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		G	45637209	T	G	45637209	3	3	24	1	0	0	0	0	1	0	0	0	8827	1606	56	4	840	4	LIMD1	3	45637209	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5405704	45637209	152385221	172	3319											
MON1A	84315	broad.mit.edu;bcgsc.ca	37	3	49967045	49967045	+	Frame_Shift_Del	DEL	T	T	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:49967045delT	ENST00000296473.3	-	1	533	c.275delA	c.(274-276)aacfs	p.N92fs	MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000455683.2_Frame_Shift_Del_p.N92fs|MON1A_ENST00000417270.1_5'UTR	NM_032355.3	NP_115731.2	Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	0										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AACTCACCTGTTTCTCAGAGG	0.657																																					p.N92fs													.	MON1A	41	0			c.275delA						.						33	33	33					3																	49967045		692	1590	2282	SO:0001589	frameshift_variant	84315	exon1			CACCTGTTTCTCA	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000296473.3:c.275delA	3.37:g.49967045delT	ENSP00000296473:p.Asn92fs	37	0		12	9	NM_032355	B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Frame_Shift_Del	DEL	ENST00000296473.3	37	CCDS2808.2																																																																																			.		0.657	MON1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345534.2	NM_032355		-	49967045	T	-	49967045	7	5	24	1	0	1	0	1	0	0	0	0	9736	1725	60	0	1707	0	MON1A	3	49967045	Frame_Shift_Del	DEL	T	TCGA-W5-AA39-01A-11D-A417-09	4329836	49967045	148055385	173	3320											
BAP1	51533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52441997	52441997	+	5'Flank	SNP	A	A	C	rs113802540		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:52441997A>C	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Missense_Mutation_p.F118V|BAP1_ENST00000460680.1_Missense_Mutation_p.F118V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCCTTGGTGAAGTCCTTCATG	0.582																																					p.F118V		.											.	.	.	0			c.T352G						.						63	56	58					3																	52441997		2203	4300	6503	SO:0001631	upstream_gene_variant	8314	exon5			TGGTGAAGTCCTT	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52441997A>C	Exception_encountered	44	0		14	12	NM_004656	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	33	5.197747	0.94997	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.56776	0.44;0.44;0.44	5.49	5.49	0.81192	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.83852	2.665	0.80722	D	1	D	0.56521	0.976	P	0.60012	0.867	T	0.76476	-0.2945	10	0.59425	D	0.04	-3.2432	15.5817	0.76448	1.0:0.0:0.0:0.0	.	118	Q92560	BAP1_HUMAN	V	118;118;39	ENSP00000417132:F118V;ENSP00000296288:F118V;ENSP00000417776:F39V	ENSP00000296288:F118V	F	-	1	0	BAP1	52417037	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.047000	0.93823	2.092000	0.63282	0.459000	0.35465	TTC	.		0.582	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52441997	A	C	52441997	1	2	24	0	1	0	0	0	0	0	0	0	1312	72	3	4		4	BAP1	3	52441997	5'Flank	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2474952	52441997	145580433	174	3321											
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	52712524	52712533	+	Frame_Shift_Del	DEL	TGGTGCCCTA	TGGTGCCCTA	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	TGGTGCCCTA	TGGTGCCCTA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:52712524_52712533delTGGTGCCCTA	ENST00000296302.7	-	2	220_229	c.219_228delTAGGGCACCA	c.(217-228)attagggcaccafs	p.IRAP73fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.IRAP73fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.IRAP73fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.IRAP73fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.IRAP73fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.IRAP73fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.IRAP73fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.IRAP73fs			Q86U86	PB1_HUMAN	polybromo 1	73	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)	p.F72fs*1(3)|p.A75V(3)		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)		ACCTTCGCTTTGGTGCCCTAATGAAGAGCT	0.452			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.74_77del		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	.	.	6	Substitution - Missense(3)|Deletion - Frameshift(3)	kidney(3)|endometrium(3)	c.220_229del						.																																			SO:0001589	frameshift_variant	55193	exon3			TCGCTTTGGTGCC	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.219_228delTAGGGCACCA	3.37:g.52712524_52712533delTGGTGCCCTA	ENSP00000296302:p.Ile73fs	71	0		28	14	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																				.		0.452	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52712533	TGGTGCCCTA	-	52712524	7	5	24	1	0	1	0	1	0	0	0	0	11530	1799	63	0	4788	0	PBRM1	3	52712524	Frame_Shift_Del	DEL	TGGTGCCCTA	TCGA-W5-AA39-01A-11D-A417-09	270527	52712524	145309906	175	3322											
ITIH1	3697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52812387	52812387	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:52812387A>C	ENST00000273283.2	+	3	194	c.170A>C	c.(169-171)aAa>aCa	p.K57T	ITIH1_ENST00000540715.1_5'Flank|ITIH1_ENST00000537050.1_5'Flank|ITIH1_ENST00000542827.1_Missense_Mutation_p.K57T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	57	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				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)		CGGAGTTTGAAAGTCAACTGC	0.547																																					p.K57T		.											.	.	.	0			c.A170C						.						145	137	140					3																	52812387		2203	4300	6503	SO:0001583	missense	3697	exon3			GTTTGAAAGTCAA		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.170A>C	3.37:g.52812387A>C	ENSP00000273283:p.Lys57Thr	49	0		16	9	NM_002215	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122318	0.77436	.	.	ENSG00000055957	ENST00000542827;ENST00000273283	T;T	0.23754	1.89;1.89	5.65	4.49	0.54785	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.276820	0.39834	N	0.001258	T	0.33556	0.0867	L	0.48218	1.51	0.80722	D	1	D	0.54601	0.967	P	0.54706	0.759	T	0.02975	-1.1087	10	0.39692	T	0.17	-18.3131	10.2147	0.43162	0.9257:0.0:0.0743:0.0	.	57	P19827	ITIH1_HUMAN	T	57	ENSP00000442584:K57T;ENSP00000273283:K57T	ENSP00000273283:K57T	K	+	2	0	ITIH1	52787427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.270000	0.51600	1.149000	0.42402	0.533000	0.62120	AAA	.		0.547	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		C	52812387	A	C	52812387	3	2	24	1	0	0	0	0	1	0	0	0	7930	14	1	4	180	4	ITIH1	3	52812387	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	99863	52812387	145210043	176	3323											
ERC2	26059	hgsc.bcm.edu	37	3	56026205	56026205	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:56026205G>T	ENST00000288221.6	-	11	2390	c.2135C>A	c.(2134-2136)gCg>gAg	p.A712E		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)		GTAGTAAGACGCCTCTTTATC	0.458																																					p.A712E		.											ERC2_ENST00000288221,caecum,carcinoma,0,2	ERC2_ENST00000288221	0	0			c.C2135A						.						194	188	190					3																	56026205		1902	4128	6030	SO:0001583	missense	26059	exon11			TAAGACGCCTCTT	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.2135C>A	3.37:g.56026205G>T	ENSP00000288221:p.Ala712Glu	60	0		20	2	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.011828|3.011828	0.54468|0.54468	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.47177|.	0.85|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.064020|.	0.64402|.	D|.	0.000003|.	T|T	0.41719|0.41719	0.1171|0.1171	N|N	0.14661|0.14661	0.345|0.345	0.39447|0.39447	D|D	0.967342|0.967342	P|.	0.35793|.	0.521|.	B|.	0.37451|.	0.25|.	T|T	0.35201|0.35201	-0.9798|-0.9798	10|5	0.54805|.	T|.	0.06|.	-11.4437|-11.4437	12.6507|12.6507	0.56759|0.56759	0.0754:0.0:0.9246:0.0|0.0754:0.0:0.9246:0.0	.|.	712|.	O15083|.	ERC2_HUMAN|.	E|S	712|363	ENSP00000288221:A712E|.	ENSP00000288221:A712E|.	A|R	-|-	2|1	0|0	ERC2|ERC2	56001245|56001245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.483000|7.483000	0.81158|0.81158	2.582000|2.582000	0.87167|0.87167	0.591000|0.591000	0.81541|0.81541	GCG|CGT	.		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		T	56026205	G	T	56026205	3	4	24	1	0	0	0	0	1	0	0	0	5227	1087	38	2	756	2	ERC2	3	56026205	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3213818	56026205	141996225	177	3324											
OR5H14	403273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	97868425	97868425	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:97868425T>G	ENST00000437310.1	+	1	256	c.196T>G	c.(196-198)Tta>Gta	p.L66V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	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)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTGGGAATTTAGCTTTTGT	0.398																																					p.L66V		.											.	.	.	0			c.T196G						.						316	320	319					3																	97868425		2203	4300	6503	SO:0001583	missense	403273	exon1			GGGAATTTAGCTT		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.196T>G	3.37:g.97868425T>G	ENSP00000401706:p.Leu66Val	151	0		104	20	NM_001005514	B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624128	0.28889	.	.	ENSG00000236032	ENST00000437310	T	0.00587	6.38	2.49	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34853	N	0.003626	T	0.02848	0.0085	H	0.96430	3.82	0.09310	N	1	D	0.64830	0.994	P	0.61201	0.885	T	0.28038	-1.0056	10	0.87932	D	0	.	4.493	0.11822	0.0:0.327:0.0:0.673	.	66	A6NHG9	O5H14_HUMAN	V	66	ENSP00000401706:L66V	ENSP00000401706:L66V	L	+	1	2	OR5H14	99351115	0.000000	0.05858	0.010000	0.14722	0.024000	0.10985	-1.563000	0.02154	0.198000	0.20407	0.164000	0.16699	TTA	.		0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			G	97868425	T	G	97868425	3	3	24	1	0	0	0	0	1	0	0	0	11199	1838	64	4	198	4	OR5H14	3	97868425	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	41842220	97868425	100154005	178	3325											
ZBTB11	27107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	101395620	101395620	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:101395620G>C	ENST00000312938.4	-	1	719	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11_ENST00000461821.1_Missense_Mutation_p.L47V|ZBTB11-AS1_ENST00000609682.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	47					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						TGGTAATACAGAGTCCCGCCG	0.677																																					p.L47V		.											.	.	.	0			c.C139G						.						12	13	13					3																	101395620		2191	4273	6464	SO:0001583	missense	27107	exon1			AATACAGAGTCCC	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.139C>G	3.37:g.101395620G>C	ENSP00000326200:p.Leu47Val	17	0		27	10	NM_014415	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.40|18.40	3.615603|3.615603	0.66672|0.66672	.|.	.|.	ENSG00000066422|ENSG00000256628	ENST00000312938;ENST00000461821|ENST00000536865	T;T|.	0.50001|.	0.76;0.76|.	5.72|5.72	-0.347|-0.347	0.12617|0.12617	.|.	.|0.593832	.|0.12591	.|U	.|0.455556	T|T	0.63803|0.63803	0.2542|0.2542	M|M	0.69358|0.69358	2.11|2.11	0.32193|0.32193	N|N	0.578842|0.578842	D;D|D	0.76494|0.65815	0.998;0.999|0.995	D;D|P	0.78314|0.60415	0.975;0.991|0.874	T|T	0.68334|0.68334	-0.5436|-0.5436	9|9	0.87932|0.87932	D|D	0|0	-7.2738|-7.2738	10.7012|10.7012	0.45928|0.45928	0.3705:0.0:0.6295:0.0|0.3705:0.0:0.6295:0.0	.|.	47;47|44	C9J2L2;O95625|Q9BTX9	.;ZBT11_HUMAN|YC010_HUMAN	V|H	47|44	ENSP00000326200:L47V;ENSP00000417369:L47V|.	ENSP00000326200:L47V|ENSP00000444544:Q44H	L|Q	-|+	1|3	2|2	ZBTB11|AC084198.1	102878310|102878310	0.010000|0.010000	0.17322|0.17322	0.027000|0.027000	0.17364|0.17364	0.914000|0.914000	0.54420|0.54420	0.038000|0.038000	0.13862|0.13862	-0.388000|-0.388000	0.07797|0.07797	-0.218000|-0.218000	0.12543|0.12543	CTG|CAG	.		0.677	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		C	101395620	G	C	101395620	3	2	24	1	0	0	0	0	1	0	0	0	17572	933	33	5	3066	5	ZBTB11	3	101395620	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3527195	101395620	96626810	179	3326											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376107	113376107	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:113376107C>T	ENST00000478658.1	-	5	4439	c.4422G>A	c.(4420-4422)caG>caA	p.Q1474Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1474Q			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		.											KIAA2018,colon,carcinoma,0,1	KIAA2018	0	0			c.G4422A						.						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		22	1		23	5	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			.		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	8295	796	28	3		3	KIAA2018	3	113376107	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	11980487	113376107	84646323	180	3327											
C3orf1	51300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	119217752	119217752	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:119217752C>T	ENST00000494664.1	+	1	374	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.L58F|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	58						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATGGGACCGCCTCCGGGAGCT	0.617																																					p.L58F		.											.	.	.	0			c.C172T						.						69	77	74					3																	119217752		2203	4300	6503	SO:0001583	missense	51300	exon1			GACCGCCTCCGGG	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.172C>T	3.37:g.119217752C>T	ENSP00000418803:p.Leu58Phe	46	0		46	16	NM_016589	D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633254	0.67015	.	.	ENSG00000113845	ENST00000494664;ENST00000493694;ENST00000466984	T;T;T	0.58506	0.99;0.33;0.42	4.99	4.99	0.66335	.	0.254472	0.39544	N	0.001330	T	0.75413	0.3846	M	0.78801	2.425	0.29670	N	0.842561	D	0.89917	1.0	D	0.83275	0.996	T	0.73480	-0.3969	10	0.72032	D	0.01	-11.9778	13.9526	0.64129	0.0:1.0:0.0:0.0	.	58	Q9NPL8	TIDC1_HUMAN	F	58	ENSP00000418803:L58F;ENSP00000419510:L58F;ENSP00000420122:L58F	ENSP00000264244:L58F	L	+	1	0	TIMMDC1	120700442	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.616000	0.46376	2.752000	0.94435	0.557000	0.71058	CTC	.		0.617	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		T	119217752	C	T	119217752	3	4	24	1	0	0	0	0	1	0	0	0	2213	681	24	3	174	3	C3orf1	3	119217752	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5841645	119217752	78804678	181	3328											
SLC12A8	84561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	124826699	124826699	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:124826699T>A	ENST00000393469.4	-	9	1380	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	SLC12A8_ENST00000314584.7_Missense_Mutation_p.E197V|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E444V|SLC12A8_ENST00000423114.2_Missense_Mutation_p.E473V|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E245V|SLC12A8_ENST00000465475.1_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	444					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GGCAGGTCCCTCAGAGCCGTA	0.602																																					p.E444V		.											.	.	.	0			c.A1331T						.						67	67	67					3																	124826699		1928	4135	6063	SO:0001583	missense	84561	exon10			GGTCCCTCAGAGC		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.1331A>T	3.37:g.124826699T>A	ENSP00000377112:p.Glu444Val	18	0		14	6	NM_024628	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119042	0.56505	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;D	0.89123	-1.98;-2.46;-2.47;-2.46;-1.58	5.28	1.6	0.23607	.	.	.	.	.	D	0.90807	0.7113	L	0.57536	1.79	0.09310	N	1	D;P;P;D	0.71674	0.998;0.82;0.586;0.985	P;B;B;P	0.60949	0.881;0.19;0.146;0.735	T	0.81433	-0.0935	9	0.54805	T	0.06	.	9.0865	0.36584	0.0:0.2131:0.0:0.7869	.	197;473;444;245	A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;S12A8_HUMAN;.	V	245;444;473;444;197	ENSP00000415713:E245V;ENSP00000377112:E444V;ENSP00000404243:E473V;ENSP00000418783:E444V;ENSP00000323632:E197V	ENSP00000323632:E197V	E	-	2	0	SLC12A8	126309389	0.508000	0.26154	0.050000	0.19076	0.836000	0.47400	0.921000	0.28718	0.475000	0.27415	0.533000	0.62120	GAG	.		0.602	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		A	124826699	T	A	124826699	3	1	24	1	0	0	0	0	1	0	0	0	14434	1551	54	5	833	5	SLC12A8	3	124826699	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5608947	124826699	73195731	182	3329											
TMCC1	23023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	129546839	129546839	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:129546839G>T	ENST00000393238.3	-	3	723	c.383C>A	c.(382-384)cCa>cAa	p.P128Q	TMCC1_ENST00000426664.2_Missense_Mutation_p.P14Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	128						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						TGGGGCCTCTGGCTTGCCCCG	0.562																																					p.P128Q		.											.	.	.	0			c.C383A						.						102	93	96					3																	129546839		2203	4300	6503	SO:0001583	missense	23023	exon3			GCCTCTGGCTTGC	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.383C>A	3.37:g.129546839G>T	ENSP00000376930:p.Pro128Gln	50	0		36	14	NM_001017395	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750509	0.31046	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000505616	T;T;T	0.42900	1.58;1.59;0.96	5.98	5.98	0.97165	.	0.387744	0.26159	N	0.025989	T	0.31389	0.0795	N	0.14661	0.345	0.80722	D	1	B	0.19583	0.037	B	0.20384	0.029	T	0.07731	-1.0757	10	0.59425	D	0.04	-0.0774	17.3499	0.87321	0.0:0.1246:0.8754:0.0	.	128	O94876	TMCC1_HUMAN	Q	128;14;14	ENSP00000376930:P128Q;ENSP00000389892:P14Q;ENSP00000422544:P14Q	ENSP00000376930:P128Q	P	-	2	0	TMCC1	131029529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.838000	0.97847	0.591000	0.81541	CCA	.		0.562	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		T	129546839	G	T	129546839	3	4	24	1	0	0	0	0	1	0	0	0	16039	1348	47	3	1594	3	TMCC1	3	129546839	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	4720140	129546839	68475591	183	3330											
PIK3R4	30849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	130452666	130452666	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:130452666A>G	ENST00000356763.3	-	4	1733	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	392					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						GTTTGGAATCACAGTATTTAA	0.398																																					p.C392C		.											.	.	.	0			c.T1176C						.						133	130	131					3																	130452666		2203	4300	6503	SO:0001819	synonymous_variant	30849	exon4			GGAATCACAGTAT	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.1176T>C	3.37:g.130452666A>G		83	0		61	20	NM_014602	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																			.		0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		G	130452666	A	G	130452666	2	3	24	1	0	0	0	0	0	0	0	1	11960	157	6	4		4	PIK3R4	3	130452666	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	905827	130452666	67569764	184	3331											
STAG1	10274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	136059372	136059372	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:136059372A>G	ENST00000383202.2	-	32	3889	c.3633T>C	c.(3631-3633)gaT>gaC	p.D1211D	STAG1_ENST00000434713.2_Silent_p.D951D|STAG1_ENST00000236698.5_Silent_p.D1174D|STAG1_ENST00000536929.1_Silent_p.D795D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1211					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						CTTCATTCATATCTTCTAACT	0.388																																					p.D1211D		.											.	.	.	0			c.T3633C						.						129	121	124					3																	136059372		2203	4300	6503	SO:0001819	synonymous_variant	10274	exon32			ATTCATATCTTCT	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.3633T>C	3.37:g.136059372A>G		64	0		53	14	NM_005862	O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	CCDS3090.1																																																																																			.		0.388	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		G	136059372	A	G	136059372	2	3	24	1	0	0	0	0	0	0	0	1	15289	446	16	4		4	STAG1	3	136059372	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5606706	136059372	61963058	185	3332											
PIK3CB	5291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	138407783	138407783	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:138407783T>G	ENST00000477593.1	-	15	2143	c.2070A>C	c.(2068-2070)caA>caC	p.Q690H	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Q690H|PIK3CB_ENST00000544716.1_Missense_Mutation_p.Q136H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	690	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TGACACCAAATTGTACTGAGA	0.388																																					p.Q690H		.											.	.	.	0			c.A2070C						.						87	77	80					3																	138407783		2203	4300	6503	SO:0001583	missense	5291	exon14			ACCAAATTGTACT		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2070A>C	3.37:g.138407783T>G	ENSP00000418143:p.Gln690His	45	0		41	15	NM_006219	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.34|11.34	1.610776|1.610776	0.28712|0.28712	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000544716;ENST00000289153	.|T;T;T	.|0.63417	.|-0.04;-0.04;-0.04	5.24|5.24	-7.58|-7.58	0.01313|0.01313	.|Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.41415|0.41415	1.275|1.275	0.35219|0.35219	D|D	0.77587|0.77587	.|B;B;B	.|0.17465	.|0.001;0.001;0.022	.|B;B;B	.|0.14023	.|0.005;0.005;0.01	T|T	0.02398|0.02398	-1.1165|-1.1165	5|10	.|0.66056	.|D	.|0.02	-6.891|-6.891	10.3122|10.3122	0.43714|0.43714	0.0916:0.3148:0.0:0.5937|0.0916:0.3148:0.0:0.5937	.|.	.|690;277;136	.|P42338;B4DZI3;Q68DL0	.|PK3CB_HUMAN;.;.	T|H	322|690;136;690	.|ENSP00000418143:Q690H;ENSP00000438259:Q136H;ENSP00000289153:Q690H	.|ENSP00000289153:Q690H	N|Q	-|-	2|3	0|2	PIK3CB|PIK3CB	139890473|139890473	0.257000|0.257000	0.24022|0.24022	0.178000|0.178000	0.23040|0.23040	0.706000|0.706000	0.40770|0.40770	-0.257000|-0.257000	0.08745|0.08745	-1.356000|-1.356000	0.02183|0.02183	-1.064000|-1.064000	0.02280|0.02280	AAT|CAA	.		0.388	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			G	138407783	T	G	138407783	3	3	24	1	0	0	0	0	1	0	0	0	11953	1490	52	4	1176	4	PIK3CB	3	138407783	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2348411	138407783	59614647	186	3333											
ZBTB38	253461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	141162287	141162287	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:141162287A>T	ENST00000514251.1	+	4	1336	c.1057A>T	c.(1057-1059)Agc>Tgc	p.S353C	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S353C|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S354C					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						AGCCTTTGACAGCAGCACTCT	0.512																																					p.S353C		.											.	.	.	0			c.A1057T						.						110	111	110					3																	141162287		1961	4149	6110	SO:0001583	missense	253461	exon8			TTTGACAGCAGCA	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.1057A>T	3.37:g.141162287A>T	ENSP00000426387:p.Ser353Cys	33	0		35	17	NM_001080412		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363438	0.61513	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.61392	1.54;0.11;0.11;0.11	5.58	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.174774	0.50627	D	0.000102	T	0.48390	0.1497	L	0.33137	0.985	0.28019	N	0.934613	D;D	0.59357	0.985;0.985	P;P	0.49999	0.628;0.628	T	0.46119	-0.9214	9	.	.	.	-22.1241	4.5594	0.12152	0.7245:0.0:0.2755:0.0	.	354;353	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	C	353;353;353;354	ENSP00000424254:S353C;ENSP00000426387:S353C;ENSP00000406955:S353C;ENSP00000372635:S354C	.	S	+	1	0	ZBTB38	142644977	1.000000	0.71417	0.889000	0.34880	0.941000	0.58515	4.223000	0.58587	2.110000	0.64415	0.482000	0.46254	AGC	.		0.512	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			T	141162287	A	T	141162287	3	4	24	1	0	0	0	0	1	0	0	0	17587	188	7	5	1059	5	ZBTB38	3	141162287	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2754504	141162287	56860143	187	3334											
PAQR9	344838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	142681920	142681920	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:142681920A>C	ENST00000340634.3	-	1	258	c.259T>G	c.(259-261)Ttc>Gtc	p.F87V	RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	87						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGCGTCCAGAAGTTGAGCGTC	0.632																																					p.F87V		.											.	.	.	0			c.T259G						.						98	99	99					3																	142681920		2203	4300	6503	SO:0001583	missense	344838	exon1			TCCAGAAGTTGAG	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.259T>G	3.37:g.142681920A>C	ENSP00000341564:p.Phe87Val	14	0		14	4	NM_198504	Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549692	0.27652	.	.	ENSG00000188582	ENST00000340634	T	0.25085	1.82	4.64	4.64	0.57946	.	0.063541	0.64402	D	0.000005	T	0.16769	0.0403	N	0.17594	0.5	0.49483	D	0.999795	B	0.27140	0.169	B	0.34991	0.193	T	0.03000	-1.1084	10	0.06099	T	0.92	-26.5171	14.0273	0.64592	1.0:0.0:0.0:0.0	.	87	Q6ZVX9	PAQR9_HUMAN	V	87	ENSP00000341564:F87V	ENSP00000341564:F87V	F	-	1	0	PAQR9	144164610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.717000	0.68446	1.854000	0.53819	0.460000	0.39030	TTC	.		0.632	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		C	142681920	A	C	142681920	3	2	24	1	0	0	0	0	1	0	0	0	11481	72	3	4	878	4	PAQR9	3	142681920	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1519633	142681920	55340510	188	3335											
CP	84343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	148894184	148894184	+	IGR	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:148894184T>C	ENST00000296051.2	+	0	4665				CP_ENST00000264613.6_Missense_Mutation_p.S1012G	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						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)			ACATCAGAACTATAAACTCCC	0.368									Hermansky-Pudlak syndrome																												p.S1012G		.											.	.	.	0			c.A3034G						.						82	82	82					3																	148894184		2203	4299	6502	SO:0001628	intergenic_variant	1356	exon18	Familial Cancer Database	HPS, HPS1-8	CAGAACTATAAAC	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		3.37:g.148894184T>C		59	0		49	17	NM_000096	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068033	0.36470	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99706	-6.47;-6.47;-6.47	5.62	1.97	0.26223	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.338989	0.33346	N	0.005020	D	0.98128	0.9382	N	0.20986	0.625	0.09310	N	0.999997	P	0.42584	0.784	B	0.37780	0.258	D	0.94683	0.7867	10	0.72032	D	0.01	-5.5326	14.584	0.68310	0.0:0.0:0.7128:0.2872	.	1012	P00450	CERU_HUMAN	G	147;1012;795	ENSP00000420367:S147G;ENSP00000264613:S1012G;ENSP00000420545:S795G	ENSP00000264613:S1012G	S	-	1	0	CP	150376874	0.989000	0.36119	0.274000	0.24659	0.737000	0.42083	2.080000	0.41586	0.368000	0.24481	0.528000	0.53228	AGT	.		0.368	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		C	148894184	T	C	148894184	1	2	24	0	1	0	0	0	0	0	0	0	3794	1522	53	4		4	CP	3	148894184	IGR	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6212264	148894184	49128246	189	3336											
CP	1356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	148899805	148899805	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:148899805A>C	ENST00000264613.6	-	14	2803	c.2541T>G	c.(2539-2541)acT>acG	p.T847T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	847	F5/8 type A 3.|Plastocyanin-like 5.				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)	GTAATGTTGGAGTAACTGTAG	0.468																																					p.T847T		.											.	.	.	0			c.T2541G						.						134	132	133					3																	148899805		2203	4300	6503	SO:0001819	synonymous_variant	1356	exon14			TGTTGGAGTAACT	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.2541T>G	3.37:g.148899805A>C		82	0		57	35	NM_000096	Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	CCDS3141.1																																																																																			.		0.468	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		C	148899805	A	C	148899805	2	2	24	1	0	0	0	0	0	0	0	1	3794	291	11	4		4	CP	3	148899805	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5621	148899805	49122625	190	3337											
TM4SF18	116441	hgsc.bcm.edu;bcgsc.ca	37	3	149051002	149051002	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:149051002T>C	ENST00000296059.2	-	2	433	c.168A>G	c.(166-168)tcA>tcG	p.S56S	TM4SF18_ENST00000470080.1_Silent_p.S56S|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	56						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCATGATGCCTGAGAAACAGA	0.378																																					p.S56S		.											.	.	.	0			c.A168G						.						122	115	117					3																	149051002		2203	4300	6503	SO:0001819	synonymous_variant	116441	exon1			GATGCCTGAGAAA	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.168A>G	3.37:g.149051002T>C		49	0		48	4	NM_001184723	B2R8K0|D3DNH5	Silent	SNP	ENST00000296059.2	37	CCDS3142.1																																																																																			.		0.378	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		C	149051002	T	C	149051002	2	2	24	1	0	0	0	0	0	0	0	1	16014	1567	55	4		4	TM4SF18	3	149051002	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	151197	149051002	48971428	191	3338											
SELT	51714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	150340940	150340940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:150340940G>A	ENST00000485923.1	+	3	573	c.185G>A	c.(184-186)tGg>tAg	p.W62*	SELT_ENST00000471696.1_Nonsense_Mutation_p.W120*|SELT_ENST00000480740.1_Nonsense_Mutation_p.W62*|SELT_ENST00000477889.1_Nonsense_Mutation_p.W62*			P62341	SELT_HUMAN		120					cell redox homeostasis (GO:0045454)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|pancreas development (GO:0031016)|selenocysteine incorporation (GO:0001514)	endoplasmic reticulum (GO:0005783)	selenium binding (GO:0008430)							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCTGGCAGTGGGGCCAAGAA	0.343																																					.		.											.	.	.	0			.						.						69	61	63					3																	150340940		1831	4078	5909	SO:0001587	stop_gained	0	p.W120*			GGCAGTGGGGCCA																												ENST00000485923.1:c.185G>A	3.37:g.150340940G>A	ENSP00000420390:p.Trp62*	101	0		93	53	.	O95904|Q8IY80|Q9CZ45|Q9NZJ3	Nonsense_Mutation	SNP	ENST00000485923.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.044850	0.97231	.	.	ENSG00000198843	ENST00000480740;ENST00000471696;ENST00000477889;ENST00000485923	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6132	19.5145	0.95157	0.0:0.0:1.0:0.0	.	.	.	.	X	62;120;62;62	.	ENSP00000418910:W120X	W	+	2	0	RP11-392O18.1	151823630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.117000	0.94347	2.608000	0.88229	0.650000	0.86243	TGG	.		0.343	SELT-005	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357629.1			A	150340940	G	A	150340940	4	1	24	1	0	0	0	0	0	1	0	0	14067	1357	47	3	369	3	SELT	3	150340940	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1289938	150340940	47681490	192	3339											
MME	4311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	154858051	154858051	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:154858051A>C	ENST00000460393.1	+	10	1047	c.927A>C	c.(925-927)caA>caC	p.Q309H	MME_ENST00000360490.2_Missense_Mutation_p.Q309H|MME_ENST00000492661.1_Missense_Mutation_p.Q309H|MME_ENST00000493237.1_Missense_Mutation_p.Q309H|MME_ENST00000462745.1_Missense_Mutation_p.Q309H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	309					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)	CCCAGATCCAAAATAACTTTT	0.328																																					p.Q309H		.											.	.	.	0			c.A927C						.						70	64	66					3																	154858051		2203	4299	6502	SO:0001583	missense	4311	exon10			GATCCAAAATAAC		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.927A>C	3.37:g.154858051A>C	ENSP00000418525:p.Gln309His	52	0		76	46	NM_007287	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337927	0.24253	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.23	-2.01	0.07410	Peptidase M13 (1);	0.425465	0.27826	N	0.017688	T	0.78310	0.4263	L	0.58510	1.815	0.28134	N	0.930077	D	0.54772	0.968	D	0.65874	0.939	T	0.72513	-0.4270	10	0.87932	D	0	-11.212	8.7403	0.34554	0.4355:0.1147:0.4498:0.0	.	309	P08473	NEP_HUMAN	H	309	ENSP00000420389:Q309H;ENSP00000418525:Q309H;ENSP00000419653:Q309H;ENSP00000417079:Q309H;ENSP00000353679:Q309H	ENSP00000353679:Q309H	Q	+	3	2	MME	156340745	0.342000	0.24809	0.046000	0.18839	0.020000	0.10135	0.237000	0.17985	-0.505000	0.06568	0.533000	0.62120	CAA	.		0.328	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		C	154858051	A	C	154858051	3	2	24	1	0	0	0	0	1	0	0	0	9683	11	1	4	961	4	MME	3	154858051	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4517111	154858051	43164379	193	3340											
MLF1	4291	hgsc.bcm.edu	37	3	158315944	158315944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:158315944G>T	ENST00000355893.5	+	4	493	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000359117.5_Nonsense_Mutation_p.E94*|MLF1_ENST00000392822.3_Nonsense_Mutation_p.E150*|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000471745.1_Nonsense_Mutation_p.E109*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.E109*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.E94*|MLF1_ENST00000484955.1_Nonsense_Mutation_p.E94*	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	119	Interaction with COPS3.				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)			AATAGGAGATGAACCGCCAAA	0.383			T	NPM1	AML																																p.E150X		.		Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	.	.	.	0			c.G448T						.						78	80	79					3																	158315944		2203	4300	6503	SO:0001587	stop_gained	4291	exon6			GGAGATGAACCGC	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.355G>T	3.37:g.158315944G>T	ENSP00000348157:p.Glu119*	93	0		91	4	NM_001195432	E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Nonsense_Mutation	SNP	ENST00000355893.5	37	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884057	0.97062	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	.	.	.	5.44	5.44	0.79542	.	0.059885	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-30.0223	19.2725	0.94016	0.0:0.0:1.0:0.0	.	.	.	.	X	45;119;94;94;74;109;109;94;109;150;134	.	ENSP00000348157:E119X	E	+	1	0	MLF1	159798638	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.921000	0.92784	2.561000	0.86390	0.563000	0.77884	GAA	.		0.383	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		T	158315944	G	T	158315944	4	4	24	1	0	0	0	0	0	1	0	0	9652	1291	45	3	369	3	MLF1	3	158315944	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3457893	158315944	39706486	194	3341											
SMC4	10051	hgsc.bcm.edu;bcgsc.ca	37	3	160150976	160150976	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:160150976C>A	ENST00000357388.3	+	23	4144	c.3693C>A	c.(3691-3693)tcC>tcA	p.S1231S	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000360111.2_Silent_p.S1173S|SMC4_ENST00000462787.1_Silent_p.S1173S|SMC4_ENST00000469762.1_Silent_p.S1206S|SMC4_ENST00000344722.5_Silent_p.S1231S	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1231					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)			AAAATGTGTCCATTGTTGCAT	0.338																																					p.S1231S		.											.	.	.	0			c.C3693A						.						120	119	119					3																	160150976		2203	4300	6503	SO:0001819	synonymous_variant	10051	exon22			TGTGTCCATTGTT	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.3693C>A	3.37:g.160150976C>A		92	0		87	4	NM_005496	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	37	CCDS3189.1																																																																																			.		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			A	160150976	C	A	160150976	2	1	24	1	0	0	0	0	0	0	0	1	14830	581	21	3		3	SMC4	3	160150976	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1835032	160150976	37871454	195	3342											
PHC3	80012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	169820688	169820688	+	Missense_Mutation	SNP	T	T	A	rs537605155		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:169820688T>A	ENST00000494943.1	-	13	2535	c.2467A>T	c.(2467-2469)Agt>Tgt	p.S823C	PHC3_ENST00000495893.2_Missense_Mutation_p.S835C|PHC3_ENST00000467570.1_Missense_Mutation_p.S782C			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	823					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTCCAACGACTAAGTGCAAAT	0.388																																					p.S835C		.											.	.	.	0			c.A2503T						.						43	42	42					3																	169820688		1869	4088	5957	SO:0001583	missense	80012	exon13			AACGACTAAGTGC		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2467A>T	3.37:g.169820688T>A	ENSP00000420271:p.Ser823Cys	70	0		63	27	NM_024947	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37		.	.	.	.	.	.	.	.	.	.	T	17.86	3.493599	0.64186	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T;T	0.44083	0.93;0.93;0.93	5.47	4.31	0.51392	.	0.129995	0.52532	D	0.000061	T	0.44030	0.1274	L	0.50333	1.59	0.80722	D	1	B;D;D	0.63046	0.102;0.985;0.992	B;B;P	0.49502	0.051;0.408;0.613	T	0.27020	-1.0086	9	.	.	.	-3.931	11.3578	0.49625	0.0:0.0714:0.0:0.9286	.	782;823;835	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	C	823;835;782	ENSP00000420271:S823C;ENSP00000420294:S835C;ENSP00000419089:S782C	.	S	-	1	0	PHC3	171303382	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.171000	0.50824	0.907000	0.36646	0.528000	0.53228	AGT	.		0.388	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		A	169820688	T	A	169820688	3	1	24	1	0	0	0	0	1	0	0	0	11857	1522	53	5	496	5	PHC3	3	169820688	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	9669712	169820688	28201742	196	3343											
SLC2A2	6514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	170715825	170715825	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:170715825A>C	ENST00000314251.3	-	11	1521	c.1442T>G	c.(1441-1443)tTt>tGt	p.F481C	SLC2A2_ENST00000382808.4_Missense_Mutation_p.F362C	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	481					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)	AACTTTAAAAAATGTGAACAG	0.433																																					p.F481C		.											.	.	.	0			c.T1442G						.						45	49	48					3																	170715825		2202	4300	6502	SO:0001583	missense	6514	exon11			TTAAAAAATGTGA	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.1442T>G	3.37:g.170715825A>C	ENSP00000323568:p.Phe481Cys	40	0		47	22	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865619	0.71949	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.76186	-1.0;-1.0	6.17	3.65	0.41850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.195940	0.56097	D	0.000033	D	0.83658	0.5302	M	0.81682	2.555	0.40130	D	0.976703	D	0.59767	0.986	D	0.64687	0.928	D	0.85151	0.0986	10	0.72032	D	0.01	.	9.9466	0.41613	0.5217:0.0:0.0:0.4783	.	481	P11168	GTR2_HUMAN	C	481;362	ENSP00000323568:F481C;ENSP00000372258:F362C	ENSP00000323568:F481C	F	-	2	0	SLC2A2	172198519	0.997000	0.39634	0.977000	0.42913	0.962000	0.63368	2.493000	0.45320	1.120000	0.41904	0.533000	0.62120	TTT	.		0.433	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		C	170715825	A	C	170715825	3	2	24	1	0	0	0	0	1	0	0	0	14589	14	1	4	136	4	SLC2A2	3	170715825	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	895137	170715825	27306605	197	3344											
PLD1	5337	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	171394504	171394504	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:171394504C>T	ENST00000351298.4	-	18	2242		c.e18+1		PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000356327.5_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						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)	CATCCAAGTACTTTTGTGAAG	0.527																																					.	NSCLC(149;2174 3517 34058)	.											.	.	.	0			c.2001+1G>A						.						94	90	91					3																	171394504		2203	4300	6503	SO:0001630	splice_region_variant	5337	exon18			CAAGTACTTTTGT	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.2115+1G>A	3.37:g.171394504C>T		61	0		30	16	NM_001130081		Splice_Site	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913339	0.72983	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLD1	172877198	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	7.818000	0.86416	2.752000	0.94435	0.557000	0.71058	.	.		0.527	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	Intron	T	171394504	C	T	171394504	5	4	24	1	0	0	0	0	0	0	1	0	12084	579	20	3	1148	3	PLD1	3	171394504	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	678679	171394504	26627926	198	3345											
MCCC1	56922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	182756844	182756844	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:182756844T>A	ENST00000265594.4	-	12	1493	c.1347A>T	c.(1345-1347)acA>acT	p.T449T	MCCC1_ENST00000539926.1_Silent_p.T314T|MCCC1_ENST00000492597.1_Silent_p.T340T|MCCC1_ENST00000489909.1_5'Flank	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	449	Biotin carboxylation.				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)	ACCTCAGTTTTGTCAATGCCG	0.507																																					p.T449T		.											.	.	.	0			c.A1347T						.						141	115	124					3																	182756844		2203	4300	6503	SO:0001819	synonymous_variant	56922	exon12			CAGTTTTGTCAAT	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.1347A>T	3.37:g.182756844T>A		47	0		58	15	NM_020166	Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	CCDS3241.1																																																																																			.		0.507	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		A	182756844	T	A	182756844	2	1	24	1	0	0	0	0	0	0	0	1	9412	1799	63	5		5	MCCC1	3	182756844	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	11362340	182756844	15265586	199	3346											
YEATS2	55689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	183528369	183528369	+	Nonstop_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:183528369T>C	ENST00000305135.5	+	31	4462	c.4267T>C	c.(4267-4269)Tga>Cga	p.*1423R	YEATS2-AS1_ENST00000609871.1_RNA|YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	0					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)			TGAGGACCAGTGAGCGGAGTG	0.488																																					p.X1423R		.											.	.	.	0			c.T4267C						.						68	64	65					3																	183528369		2019	4172	6191	SO:0001578	stop_lost	55689	exon31			GACCAGTGAGCGG	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.4267T>C	3.37:g.183528369T>C	ENSP00000306983:p.*1423Argext*3	42	0		32	12	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055858	0.55325	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4914	0.67654	0.0:0.0:0.0:1.0	.	.	.	.	R	1423	.	.	X	+	1	0	YEATS2	185011063	1.000000	0.71417	0.988000	0.46212	0.539000	0.34962	4.677000	0.61634	2.210000	0.71456	0.533000	0.62120	TGA	.		0.488	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		C	183528369	T	C	183528369	4	2	24	1	0	0	0	0	0	0	0	0	17521	1709	59	4	4385	4	YEATS2	3	183528369	Nonstop_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	771525	183528369	14494061	200	3347											
EIF4G1	1981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	184039802	184039802	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:184039802A>T	ENST00000346169.2	+	10	1701	c.1430A>T	c.(1429-1431)gAg>gTg	p.E477V	EIF4G1_ENST00000342981.4_Missense_Mutation_p.E477V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E390V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E484V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E281V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E390V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E484V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E484V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E437V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E313V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E437V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E477V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E281V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E313V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	477					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)			gcTGAGAGTGAGAAAGGAGGA	0.532																																					p.E484V		.											.	.	.	0			c.A1451T						.						63	64	64					3																	184039802		2203	4300	6503	SO:0001583	missense	1981	exon11			AGAGTGAGAAAGG	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.1430A>T	3.37:g.184039802A>T	ENSP00000316879:p.Glu477Val	111	0		79	26	NM_001194946	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800720	0.31869	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;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;-0.11;-0.11;-0.11;0.94;-0.11	5.77	5.77	0.91146	.	0.429627	0.23813	N	0.044310	T	0.51109	0.1655	L	0.34521	1.04	0.51482	D	0.999923	B;B;B;B	0.27498	0.18;0.18;0.18;0.023	B;B;B;B	0.24155	0.051;0.051;0.051;0.044	T	0.48768	-0.9006	10	0.37606	T	0.19	-10.7873	13.4858	0.61364	1.0:0.0:0.0:0.0	.	484;477;477;484	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	477;437;390;477;484;484;418;313;484;390;477;477;484;437;313;313;281;281;281	ENSP00000316879:E477V;ENSP00000391935:E437V;ENSP00000376320:E390V;ENSP00000391412:E477V;ENSP00000413159:E484V;ENSP00000371767:E484V;ENSP00000403269:E418V;ENSP00000317600:E313V;ENSP00000338020:E484V;ENSP00000407682:E390V;ENSP00000343450:E477V;ENSP00000323737:E477V;ENSP00000416255:E484V;ENSP00000395974:E437V;ENSP00000398145:E313V;ENSP00000399858:E313V;ENSP00000411826:E281V;ENSP00000399969:E281V;ENSP00000404754:E281V	ENSP00000323737:E477V	E	+	2	0	EIF4G1	185522496	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.704000	0.54815	2.205000	0.71048	0.460000	0.39030	GAG	.		0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		T	184039802	A	T	184039802	3	4	24	1	0	0	0	0	1	0	0	0	5052	304	11	5	1460	5	EIF4G1	3	184039802	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	511433	184039802	13982628	201	3348											
EIF4G1	1981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	184040641	184040641	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:184040641A>C	ENST00000346169.2	+	13	2099	c.1828A>C	c.(1828-1830)Aaa>Caa	p.K610Q	EIF4G1_ENST00000342981.4_Missense_Mutation_p.K610Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K523Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K617Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K414Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K523Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K617Q|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K617Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K570Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K446Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K570Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K610Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K414Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K446Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	610	EIF4E-binding.|MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				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)			AGAGGAGAAAAAACGTTACGA	0.458																																					p.K617Q		.											.	.	.	0			c.A1849C						.						167	159	162					3																	184040641		2203	4300	6503	SO:0001583	missense	1981	exon14			GAGAAAAAACGTT	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.1828A>C	3.37:g.184040641A>C	ENSP00000316879:p.Lys610Gln	67	0		54	15	NM_001194946	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243445	0.79912	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70935	0.971;0.971;0.971;0.971	T	0.73363	-0.4006	10	0.35671	T	0.21	-23.5912	15.5933	0.76558	1.0:0.0:0.0:0.0	.	617;610;610;617	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Q	610;570;523;610;617;617;551;446;617;523;610;610;617;570;446;446;414;414	ENSP00000316879:K610Q;ENSP00000391935:K570Q;ENSP00000376320:K523Q;ENSP00000391412:K610Q;ENSP00000413159:K617Q;ENSP00000371767:K617Q;ENSP00000403269:K551Q;ENSP00000317600:K446Q;ENSP00000338020:K617Q;ENSP00000407682:K523Q;ENSP00000343450:K610Q;ENSP00000323737:K610Q;ENSP00000416255:K617Q;ENSP00000395974:K570Q;ENSP00000398145:K446Q;ENSP00000399858:K446Q;ENSP00000411826:K414Q;ENSP00000404754:K414Q	ENSP00000323737:K610Q	K	+	1	0	EIF4G1	185523335	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.761000	0.91691	2.270000	0.75569	0.460000	0.39030	AAA	.		0.458	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		C	184040641	A	C	184040641	3	2	24	1	0	0	0	0	1	0	0	0	5052	15	1	4	1870	4	EIF4G1	3	184040641	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	839	184040641	13981789	202	3349											
SENP2	59343	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	185329428	185329449	+	Splice_Site	DEL	GTGTTTCTAAGTTCTCAAAGAA	GTGTTTCTAAGTTCTCAAAGAA	-	rs542566238		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GTGTTTCTAAGTTCTCAAAGAA	GTGTTTCTAAGTTCTCAAAGAA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:185329428_185329449delGTGTTTCTAAGTTCTCAAAGAA	ENST00000296257.5	+	8	962_973	c.722_733delGTGTTTCTAAGTTCTCAAAGAA	c.(721-735)agtgtttctaagttc>atc	p.SVSKF241fs	SENP2_ENST00000427465.2_Splice_Site_p.SVSKF65fs|SENP2_ENST00000545472.1_Splice_Site_p.SVSKF231fs	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	241					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|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)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCACTTTTTGTGTTTCTAAGTTCTCAAAGAAGTCAGATGGA	0.392																																					p.241_244del		.											.	.	.	0			c.723_732del						.																																			SO:0001630	splice_region_variant	59343	exon8			CTTTTTGTGTTTC	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.723-1GTGTTTCTAAGTTCTCAAAGAA>-	3.37:g.185329428_185329449delGTGTTTCTAAGTTCTCAAAGAA		58	0		38	8	NM_021627	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Frame_Shift_Del	DEL	ENST00000296257.5	37	CCDS33902.1																																																																																			.		0.392	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627	Frame_Shift_Del	-	185329449	GTGTTTCTAAGTTCTCAAAGAA	-	185329428	8	5	24	1	0	1	0	1	0	0	1	0	14092	1392	48	0		0	SENP2	3	185329428	Splice_Site	DEL	GTGTTTCTAAGTTCTCAAAGAA	TCGA-W5-AA39-01A-11D-A417-09	1288787	185329428	12693002	203	3350											
IGF2BP2	10644	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	185542734	185542734	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:185542734A>C	ENST00000382199.2	-	1	110	c.15T>G	c.(13-15)ctT>ctG	p.L5L	IGF2BP2_ENST00000457616.2_Silent_p.L5L|IGF2BP2_ENST00000346192.3_Silent_p.L5L	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	5	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCCCGATGTAAAGCTTGTTCA	0.692																																					p.L5L		.											.	.	.	0			c.T15G						.						24	26	25					3																	185542734		2202	4300	6502	SO:0001819	synonymous_variant	10644	exon1			GATGTAAAGCTTG	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.15T>G	3.37:g.185542734A>C		136	0		112	31	NM_001007225	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	CCDS3273.2																																																																																			.		0.692	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		C	185542734	A	C	185542734	2	2	24	1	0	0	0	0	0	0	0	1	7601	1	1	4		4	IGF2BP2	3	185542734	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	213306	185542734	12479696	204	3351											
TBCCD1	55171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	186269020	186269020	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:186269020T>G	ENST00000424280.1	-	7	2072	c.1593A>C	c.(1591-1593)gaA>gaC	p.E531D	TBCCD1_ENST00000446782.1_Missense_Mutation_p.E435D|TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000338733.5_Missense_Mutation_p.E531D	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	531					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TAATCAACCATTCATAAAACT	0.408																																					p.E531D		.											.	.	.	0			c.A1593C						.						133	120	125					3																	186269020		2203	4300	6503	SO:0001583	missense	55171	exon7			CAACCATTCATAA	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1593A>C	3.37:g.186269020T>G	ENSP00000411253:p.Glu531Asp	71	0		48	16	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534777	0.45073	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.83992	-1.78;-1.78;-1.79	5.39	-0.0894	0.13669	.	0.059514	0.64402	D	0.000002	T	0.72407	0.3456	L	0.50333	1.59	0.43536	D	0.995829	B;B	0.33549	0.404;0.417	B;B	0.32583	0.148;0.075	T	0.59700	-0.7405	10	0.17832	T	0.49	-17.424	8.3533	0.32316	0.0:0.4093:0.0:0.5907	.	435;531	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	D	531;531;435	ENSP00000411253:E531D;ENSP00000341652:E531D;ENSP00000397091:E435D	ENSP00000341652:E531D	E	-	3	2	TBCCD1	187751714	0.894000	0.30519	0.998000	0.56505	0.981000	0.71138	-0.083000	0.11286	-0.054000	0.13266	0.528000	0.53228	GAA	.		0.408	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		G	186269020	T	G	186269020	3	3	24	1	0	0	0	0	1	0	0	0	15679	1490	52	4	84	4	TBCCD1	3	186269020	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	726286	186269020	11753410	205	3352											
ST6GAL1	6480	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	186760575	186760575	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:186760575A>C	ENST00000169298.3	+	4	758	c.84A>C	c.(82-84)gaA>gaC	p.E28D	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.E28D|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	28					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)		TGTGGAAGGAAAAGAAGAAAG	0.428																																					p.E28D													ST6GAL1,right_lower_lobe,carcinoma,+2,1	ST6GAL1	36	0			c.A84C						.						146	146	146					3																	186760575		2203	4300	6503	SO:0001583	missense	6480	exon3			GAAGGAAAAGAAG	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.84A>C	3.37:g.186760575A>C	ENSP00000169298:p.Glu28Asp	58	0		42	17	NM_003032	A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066477	0.76187	.	.	ENSG00000073849	ENST00000169298;ENST00000430309;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000440338;ENST00000448044;ENST00000416235;ENST00000423451;ENST00000446170	T;T	0.32023	1.47;1.47	5.07	-0.0638	0.13775	.	0.138959	0.64402	D	0.000004	T	0.43656	0.1257	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	T	0.25537	-1.0129	10	0.66056	D	0.02	-10.0786	7.6207	0.28183	0.606:0.0:0.394:0.0	.	28	P15907	SIAT1_HUMAN	D	28	ENSP00000169298:E28D;ENSP00000389337:E28D	ENSP00000169298:E28D	E	+	3	2	ST6GAL1	188243269	0.997000	0.39634	0.996000	0.52242	0.966000	0.64601	0.332000	0.19751	-0.166000	0.10890	0.459000	0.35465	GAA	.		0.428	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		C	186760575	A	C	186760575	3	2	24	1	0	0	0	0	1	0	0	0	15268	11	1	4	86	4	ST6GAL1	3	186760575	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	491555	186760575	11261855	206	3353											
RTP4	64108	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	187088734	187088734	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:187088734A>T	ENST00000259030.2	+	2	424	c.314A>T	c.(313-315)gAg>gTg	p.E105V		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	105					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)		GAGATGCCTGAGTTCTCCTCG	0.517																																					p.E105V		.											.	.	.	0			c.A314T						.						66	62	64					3																	187088734		2203	4300	6503	SO:0001583	missense	64108	exon2			TGCCTGAGTTCTC	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.314A>T	3.37:g.187088734A>T	ENSP00000259030:p.Glu105Val	47	0		25	4	NM_022147	Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976224	0.34848	.	.	ENSG00000136514	ENST00000259030	T	0.22743	1.94	4.09	1.53	0.23141	.	1.196400	0.05679	N	0.590022	T	0.44456	0.1294	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.14337	-1.0476	10	0.48119	T	0.1	-8.0091	8.1328	0.31037	0.5927:0.4073:0.0:0.0	.	105	Q96DX8	RTP4_HUMAN	V	105	ENSP00000259030:E105V	ENSP00000259030:E105V	E	+	2	0	RTP4	188571428	0.000000	0.05858	0.027000	0.17364	0.457000	0.32468	-0.064000	0.11636	0.329000	0.23460	0.533000	0.62120	GAG	.		0.517	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		T	187088734	A	T	187088734	3	4	24	1	0	0	0	0	1	0	0	0	13781	304	11	5	320	5	RTP4	3	187088734	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	328159	187088734	10933696	207	3354											
CLDN1	9076	bcgsc.ca	37	3	190030784	190030784	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:190030784G>T	ENST00000295522.3	-	2	533	c.265C>A	c.(265-267)Ctc>Atc	p.L89I		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	89					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		ACTCCCAGGAGGATGCCAACC	0.463																																					p.L89I													.	CLDN1	23	0			c.C265A						.						230	213	219					3																	190030784		2203	4300	6503	SO:0001583	missense	9076	exon2			CCAGGAGGATGCC	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"Claudins"	2032	protein-coding gene	gene with protein product	"senescence-associated epithelial membrane protein 1"	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.265C>A	3.37:g.190030784G>T	ENSP00000295522:p.Leu89Ile	45	0		47	4	NM_021101		Missense_Mutation	SNP	ENST00000295522.3	37	CCDS3295.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241309	0.22711	.	.	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.86432	-2.12	5.95	2.82	0.32997	.	0.121948	0.56097	D	0.000025	T	0.77837	0.4190	N	0.20530	0.585	0.48341	D	0.999635	B	0.22541	0.071	B	0.33960	0.173	T	0.66826	-0.5825	10	0.23302	T	0.38	.	8.7407	0.34556	0.1546:0.0:0.715:0.1304	.	89	O95832	CLD1_HUMAN	I	89;44	ENSP00000295522:L89I	ENSP00000295522:L89I	L	-	1	0	CLDN1	191513478	0.644000	0.27277	1.000000	0.80357	0.730000	0.41778	0.142000	0.16096	0.812000	0.34326	0.655000	0.94253	CTC	.		0.463	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		T	190030784	G	T	190030784	3	4	24	1	0	0	0	0	1	0	0	0	3478	1000	35	3	382	3	CLDN1	3	190030784	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2942050	190030784	7991646	208	3355											
ATP13A3	79572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	194152559	194152559	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:194152559T>A	ENST00000439040.1	-	22	3099	c.2308A>T	c.(2308-2310)Aaa>Taa	p.K770*	ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.K770*			Q9H7F0	AT133_HUMAN	ATPase type 13A3	770						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATAATCACTTTATCCTGAGGT	0.383																																					p.K770X		.											.	.	.	0			c.A2308T						.						85	78	80					3																	194152559		1909	4134	6043	SO:0001587	stop_gained	79572	exon21			TCACTTTATCCTG	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2308A>T	3.37:g.194152559T>A	ENSP00000416508:p.Lys770*	56	0		55	30	NM_024524	Q8NC11|Q96KS1	Nonsense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	44	11.148052	0.99522	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	.	.	.	5.71	5.71	0.89125	.	0.092234	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1382	15.9856	0.80151	0.0:0.0:0.0:1.0	.	.	.	.	X	770;770;508	.	ENSP00000256031:K770X	K	-	1	0	ATP13A3	195633848	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.364000	0.59479	2.180000	0.69256	0.455000	0.32223	AAA	.		0.383	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		A	194152559	T	A	194152559	4	1	24	1	0	0	0	0	0	1	0	0	1126	1763	61	5	1420	5	ATP13A3	3	194152559	Nonsense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4121775	194152559	3869871	209	3356											
ATP13A3	79572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	194169221	194169221	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:194169221G>A	ENST00000439040.1	-	12	1906	c.1115C>T	c.(1114-1116)aCt>aTt	p.T372I	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T372I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	372						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAGTTCTCCAGTGTAGAAACG	0.343																																					p.T372I		.											.	.	.	0			c.C1115T						.						155	139	144					3																	194169221		1863	4102	5965	SO:0001583	missense	79572	exon11			TCTCCAGTGTAGA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1115C>T	3.37:g.194169221G>A	ENSP00000416508:p.Thr372Ile	56	0		79	24	NM_024524	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899837	0.52227	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.86769	-2.17;-2.17	5.55	5.55	0.83447	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.198725	0.52532	D	0.000063	D	0.84929	0.5581	L	0.43757	1.38	0.52501	D	0.999951	B	0.02656	0.0	B	0.19946	0.027	T	0.79546	-0.1759	10	0.45353	T	0.12	-4.3982	19.567	0.95397	0.0:0.0:1.0:0.0	.	372	Q9H7F0	AT133_HUMAN	I	372;372;110	ENSP00000416508:T372I;ENSP00000256031:T372I	ENSP00000256031:T372I	T	-	2	0	ATP13A3	195650510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.166000	0.64965	2.597000	0.87782	0.650000	0.86243	ACT	.		0.343	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		A	194169221	G	A	194169221	3	1	24	1	0	0	0	0	1	0	0	0	1126	1029	36	3	2653	3	ATP13A3	3	194169221	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	16662	194169221	3853209	210	3357											
TNK2	10188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	195609127	195609127	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:195609127T>A	ENST00000333602.6	-	6	1299	c.682A>T	c.(682-684)Act>Tct	p.T228S	TNK2_ENST00000392400.1_Missense_Mutation_p.T228S|TNK2_ENST00000381916.2_Missense_Mutation_p.T291S|TNK2_ENST00000468819.1_Intron|TNK2_ENST00000316664.3_Missense_Mutation_p.T228S|TNK2_ENST00000428187.1_Missense_Mutation_p.T260S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CGGCTCAGAGTCCCCAGGAGG	0.622																																					p.T291S		.											.	.	.	0			c.A871T						.						81	71	74					3																	195609127		2203	4300	6503	SO:0001583	missense	10188	exon6			TCAGAGTCCCCAG	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.682A>T	3.37:g.195609127T>A	ENSP00000329425:p.Thr228Ser	70	0		48	16	NM_001010938	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.269541	0.40095	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.74	4.74	0.60224	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.104975	0.64402	D	0.000004	T	0.75852	0.3906	L	0.37800	1.135	0.42229	D	0.991888	B;B;B;B	0.19706	0.032;0.019;0.038;0.004	B;B;B;B	0.21917	0.037;0.007;0.012;0.008	T	0.71862	-0.4464	10	0.32370	T	0.25	.	13.4876	0.61375	0.0:0.0:0.0:1.0	.	104;228;291;260	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	S	228;291;260;228;228	ENSP00000329425:T228S;ENSP00000371341:T291S;ENSP00000392546:T260S;ENSP00000376201:T228S;ENSP00000323216:T228S	ENSP00000323216:T228S	T	-	1	0	TNK2	197093524	1.000000	0.71417	0.932000	0.37286	0.998000	0.95712	4.774000	0.62339	2.112000	0.64535	0.533000	0.62120	ACT	.		0.622	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		A	195609127	T	A	195609127	3	1	24	1	0	0	0	0	1	0	0	0	16365	1667	58	5	2523	5	TNK2	3	195609127	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1439906	195609127	2413303	211	3358											
SENP5	205564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	196626893	196626893	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr3:196626893A>C	ENST00000323460.5	+	4	1967	c.1718A>C	c.(1717-1719)gAc>gCc	p.D573A	SENP5_ENST00000445299.2_Missense_Mutation_p.D573A|SENP5_ENST00000419026.1_Missense_Mutation_p.D63A	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	573	Protease.				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)		GATATGGACGACCTGGCGACT	0.383																																					p.D573A	Ovarian(47;891 1095 11174 13858 51271)	.											.	.	.	0			c.A1718C						.						86	87	87					3																	196626893		2203	4300	6503	SO:0001583	missense	205564	exon4			TGGACGACCTGGC	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.1718A>C	3.37:g.196626893A>C	ENSP00000327197:p.Asp573Ala	54	0		42	12	NM_152699	B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548285	0.86127	.	.	ENSG00000119231	ENST00000323460;ENST00000445299;ENST00000419026	T;T;T	0.57907	0.37;0.93;0.37	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70321	-0.4904	10	0.72032	D	0.01	-14.7583	14.4783	0.67562	1.0:0.0:0.0:0.0	.	573;573	B4DY82;Q96HI0	.;SENP5_HUMAN	A	573;573;63	ENSP00000327197:D573A;ENSP00000390231:D573A;ENSP00000396927:D63A	ENSP00000327197:D573A	D	+	2	0	SENP5	198111290	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.511000	0.90535	2.367000	0.80283	0.528000	0.53228	GAC	.		0.383	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		C	196626893	A	C	196626893	3	2	24	1	0	0	0	0	1	0	0	0	14094	275	10	4	1728	4	SENP5	3	196626893	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1017766	196626893	1395537	212	3359											
ZNF721	170960	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	435664	435674	+	Frame_Shift_Del	DEL	GGGTTTCTCTC	GGGTTTCTCTC	-	rs576154356		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GGGTTTCTCTC	GGGTTTCTCTC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:435664_435674delGGGTTTCTCTC	ENST00000338977.5	-	2	2594_2604	c.2546_2556delGAGAGAAACCC	c.(2545-2556)ggagagaaacccfs	p.GEKP849fs	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.GEKP861fs|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	849					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.K863T(1)|p.K633T(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CACATGTGTAGGGTTTCTCTCCAGTATGAAT	0.412																																					p.861_865del		.											.	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.2583_2593del						.																																			SO:0001589	frameshift_variant	170960	exon3			TGTGTAGGGTTTC	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.2546_2556delGAGAGAAACCC	4.37:g.435664_435674delGGGTTTCTCTC	ENSP00000340524:p.Gly849fs	85	0		51	13	NM_133474	Q69YG7	Frame_Shift_Del	DEL	ENST00000338977.5	37																																																																																				.		0.412	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		-	435674	GGGTTTCTCTC	-	435664	7	5	24	1	0	1	0	1	0	0	0	0	18170	987	35	0	183	0	ZNF721	4	435664	Frame_Shift_Del	DEL	GGGTTTCTCTC	TCGA-W5-AA39-01A-11D-A417-09		435664	190718612	213	3360											
TMEM128	85013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	4242110	4242110	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:4242110A>G	ENST00000382753.4	-	3	345	c.336T>C	c.(334-336)taT>taC	p.Y112Y	TMEM128_ENST00000254742.2_Silent_p.Y88Y|TMEM128_ENST00000538516.1_Silent_p.Y112Y|TMEM128_ENST00000540397.1_Silent_p.Y112Y			Q5BJH2	TM128_HUMAN	transmembrane protein 128	112						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		ACTTGACATCATATTCTCCAA	0.403																																					p.Y88Y		.											.	.	.	0			c.T264C						.						138	112	121					4																	4242110		2203	4300	6503	SO:0001819	synonymous_variant	85013	exon3			GACATCATATTCT	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.336T>C	4.37:g.4242110A>G		85	0		79	37	NM_032927	B4DHS7|D3DVS3|Q5H9U6|Q96I94	Silent	SNP	ENST00000382753.4	37																																																																																				.		0.403	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927		G	4242110	A	G	4242110	2	3	24	1	0	0	0	0	0	0	0	1	16088	224	8	4		4	TMEM128	4	4242110	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3806446	4242110	186912166	214	3361											
LAP3	51056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	17600083	17600083	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:17600083A>C	ENST00000226299.4	+	10	1356	c.1082A>C	c.(1081-1083)gAt>gCt	p.D361A	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.D330A|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	361					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						CTGCAGGTTGATAACACTGAT	0.478																																					p.D361A		.											.	.	.	0			c.A1082C						.						145	119	128					4																	17600083		2203	4300	6503	SO:0001583	missense	51056	exon10			AGGTTGATAACAC	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.1082A>C	4.37:g.17600083A>C	ENSP00000226299:p.Asp361Ala	77	0		56	8	NM_015907	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440120	0.83993	.	.	ENSG00000002549	ENST00000226299	T	0.42513	0.97	5.05	5.05	0.67936	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63998	-0.6510	10	0.24483	T	0.36	-29.4045	15.0951	0.72226	1.0:0.0:0.0:0.0	.	361	P28838	AMPL_HUMAN	A	361	ENSP00000226299:D361A	ENSP00000226299:D361A	D	+	2	0	LAP3	17209181	1.000000	0.71417	0.751000	0.31187	0.904000	0.53231	8.738000	0.91569	2.011000	0.59026	0.460000	0.39030	GAT	.		0.478	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			C	17600083	A	C	17600083	3	2	24	1	0	0	0	0	1	0	0	0	8651	333	12	4	1120	4	LAP3	4	17600083	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	13357973	17600083	173554193	215	3362											
MED28	80306	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	17621579	17621579	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:17621579A>G	ENST00000237380.7	+	2	239	c.215A>G	c.(214-216)gAa>gGa	p.E72G		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	72					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						GATCAGGAAGAAATTCGAACC	0.393																																					p.E72G		.											.	.	.	0			c.A215G						.						132	120	124					4																	17621579		2203	4300	6503	SO:0001583	missense	80306	exon2			AGGAAGAAATTCG	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.215A>G	4.37:g.17621579A>G	ENSP00000237380:p.Glu72Gly	83	0		76	7	NM_025205	Q9BZJ5	Missense_Mutation	SNP	ENST00000237380.7	37	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	A	32	5.121725	0.94385	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	5.79	5.79	0.91817	.	0.047766	0.85682	D	0.000000	T	0.77425	0.4128	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79669	-0.1707	9	0.87932	D	0	-6.3248	16.1415	0.81528	1.0:0.0:0.0:0.0	.	72	Q9H204	MED28_HUMAN	G	72;69	.	ENSP00000237380:E72G	E	+	2	0	MED28	17230677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.888000	0.92464	2.198000	0.70561	0.533000	0.62120	GAA	.		0.393	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		G	17621579	A	G	17621579	3	3	24	1	0	0	0	0	1	0	0	0	9484	246	9	4	221	4	MED28	4	17621579	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	21496	17621579	173532697	216	3363											
ZCCHC4	29063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	25363483	25363483	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:25363483A>C	ENST00000302874.4	+	9	1038	c.1014A>C	c.(1012-1014)gtA>gtC	p.V338V		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	338							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CTTTCTAGGTAGATTATGATA	0.333																																					p.V338V		.											.	.	.	0			c.A1014C						.						44	43	43					4																	25363483		1811	4077	5888	SO:0001819	synonymous_variant	29063	exon9			CTAGGTAGATTAT	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1014A>C	4.37:g.25363483A>C		95	0		77	33	NM_024936	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Silent	SNP	ENST00000302874.4	37	CCDS43218.1																																																																																			.		0.333	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			C	25363483	A	C	25363483	2	2	24	1	0	0	0	0	0	0	0	1	17638	407	15	4		4	ZCCHC4	4	25363483	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7741904	25363483	165790793	217	3364											
GABRA4	2557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	46930297	46930297	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:46930297T>C	ENST00000264318.3	-	9	2592	c.1610A>G	c.(1609-1611)tAt>tGt	p.Y537C		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	537					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)	AACAACCCAATAAACCATGTT	0.378																																					p.Y537C	Ovarian(6;283 369 8234 12290 33402)	.											.	.	.	0			c.A1610G						.						65	68	67					4																	46930297		2203	4299	6502	SO:0001583	missense	2557	exon9			ACCCAATAAACCA		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.1610A>G	4.37:g.46930297T>C	ENSP00000264318:p.Tyr537Cys	109	0		103	28	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343019	0.82022	.	.	ENSG00000109158	ENST00000264318	D	0.88201	-2.35	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	L	0.57536	1.79	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.93785	0.7087	10	0.87932	D	0	.	15.3777	0.74625	0.0:0.0:0.0:1.0	.	537	P48169	GBRA4_HUMAN	C	537	ENSP00000264318:Y537C	ENSP00000264318:Y537C	Y	-	2	0	GABRA4	46625054	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.950000	0.87804	2.232000	0.73038	0.528000	0.53228	TAT	.		0.378	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			C	46930297	T	C	46930297	3	2	24	1	0	0	0	0	1	0	0	0	6187	1406	49	4	58	4	GABRA4	4	46930297	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	21566814	46930297	144223979	218	3365											
EXOC1	55763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	56759748	56759748	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:56759748A>G	ENST00000381295.2	+	15	2103	c.1755A>G	c.(1753-1755)aaA>aaG	p.K585K	EXOC1_ENST00000349598.6_Silent_p.K570K|EXOC1_ENST00000346134.7_Silent_p.K585K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	585					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)					TGATGATTAAAATATTTCGCT	0.338																																					p.K585K		.											.	.	.	0			c.A1755G						.						97	96	97					4																	56759748		2203	4300	6503	SO:0001819	synonymous_variant	55763	exon15			GATTAAAATATTT	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.1755A>G	4.37:g.56759748A>G		61	0		28	16	NM_018261	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	CCDS3502.1																																																																																			.		0.338	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		G	56759748	A	G	56759748	2	3	24	1	0	0	0	0	0	0	0	1	5317	11	1	4		4	EXOC1	4	56759748	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	9829451	56759748	134394528	219	3366											
TMPRSS11B	132724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	69093790	69093790	+	Splice_Site	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:69093790T>C	ENST00000332644.5	-	10	1251	c.1090A>G	c.(1090-1092)Aat>Gat	p.N364D		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	364	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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCAGAATCATTCTAGAAGAAG	0.388																																					p.N364D		.											.	.	.	0			c.A1090G						.						50	47	48					4																	69093790		2203	4300	6503	SO:0001630	splice_region_variant	132724	exon10			AATCATTCTAGAA	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.1090-1A>G	4.37:g.69093790T>C		71	0		16	11	NM_182502	A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773244	0.69992	.	.	ENSG00000185873	ENST00000332644	D	0.88431	-2.38	4.78	-5.89	0.02282	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.237600	0.05786	N	0.609412	T	0.69984	0.3172	N	0.01576	-0.805	0.23787	N	0.996842	B	0.17038	0.02	B	0.19391	0.025	T	0.61118	-0.7127	10	0.72032	D	0.01	.	7.6364	0.28270	0.0:0.4729:0.2649:0.2622	.	364	Q86T26	TM11B_HUMAN	D	364	ENSP00000330475:N364D	ENSP00000330475:N364D	N	-	1	0	TMPRSS11B	68776385	0.065000	0.20965	0.053000	0.19242	0.959000	0.62525	0.303000	0.19210	-0.890000	0.03945	0.528000	0.53228	AAT	.		0.388	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	Missense_Mutation	C	69093790	T	C	69093790	5	2	24	1	0	0	0	0	0	0	1	0	16287	1797	62	4	164	4	TMPRSS11B	4	69093790	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	12334042	69093790	122060486	220	3367											
UGT2B15	7366	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	69520862	69520862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:69520862delT	ENST00000338206.5	-	4	1053	c.1044delA	c.(1042-1044)ttafs	p.L348fs		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	348					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TATTGGAACCTAAAGTATTTG	0.368																																					p.G349fs		.											.	.	.	0			c.1045delG						.						183	185	184					4																	69520862		2203	4296	6499	SO:0001589	frameshift_variant	7366	exon4			GGAACCTAAAGTA	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1044delA	4.37:g.69520862delT	ENSP00000341045:p.Leu348fs	146	0		53	35	NM_001076	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Frame_Shift_Del	DEL	ENST00000338206.5	37	CCDS3524.1																																																																																			.		0.368	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		-	69520862	T	-	69520862	7	5	24	1	0	1	0	1	0	0	0	0	17007	1519	53	0	2177	0	UGT2B15	4	69520862	Frame_Shift_Del	DEL	T	TCGA-W5-AA39-01A-11D-A417-09	427072	69520862	121633414	221	3368											
GC	2638	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	72629209	72629228	+	Splice_Site	DEL	AGCTGGAGTCTCTAGAAAAC	AGCTGGAGTCTCTAGAAAAC	-	rs111676899|rs376096638		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	AGCTGGAGTCTCTAGAAAAC	AGCTGGAGTCTCTAGAAAAC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:72629209_72629228delAGCTGGAGTCTCTAGAAAAC	ENST00000273951.8	-	6	950_960	c.607_617delGTTTTCTAGAGACTCCAGCT	c.(607-618)gttttctagaga>a	p.VF*R203fs	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Splice_Site_p.VF*R222fs|GC_ENST00000513476.1_Splice_Site_p.VF*R203fs	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	203	Albumin 1. {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)	TAAATGTTTAAGCTGGAGTCTCTAGAAAACAAGTGAAAGA	0.341																																					p.222_225del		.											.	.	.	0			c.664_675del						.																																			SO:0001630	splice_region_variant	2638	exon7			TGTTTAAGCTGGA	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.607-1GTTTTCTAGAGACTCCAGCT>-	4.37:g.72629209_72629228delAGCTGGAGTCTCTAGAAAAC		71	0		24	11	NM_001204307	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	In_Frame_Del	DEL	ENST00000273951.8	37	CCDS3550.1																																																																																			.		0.341	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		Frame_Shift_Del	-	72629228	AGCTGGAGTCTCTAGAAAAC	-	72629209	8	5	24	1	0	1	0	1	0	0	1	0	6307	72	3	0	835	0	GC	4	72629209	Splice_Site	DEL	AGCTGGAGTCTCTAGAAAAC	TCGA-W5-AA39-01A-11D-A417-09	3108347	72629209	118525067	222	3369											
ANKRD17	26057	hgsc.bcm.edu	37	4	73979583	73979583	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:73979583G>T	ENST00000358602.4	-	24	4443	c.4327C>A	c.(4327-4329)Caa>Aaa	p.Q1443K	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q1192K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q1330K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1443					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)			TCTTTGGCTTGTACTATTGAC	0.353																																					p.Q1443K		.											ANKRD17,NS,lymphoid_neoplasm,0,1	ANKRD17	0	0			c.C4327A						.						145	145	145					4																	73979583		2203	4300	6503	SO:0001583	missense	26057	exon24			TGGCTTGTACTAT	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.4327C>A	4.37:g.73979583G>T	ENSP00000351416:p.Gln1443Lys	74	0		27	2	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	8.700	0.909537	0.17833	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.62364	1.63;0.04;0.03	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000014	T	0.42404	0.1201	N	0.12569	0.235	0.42532	D	0.993048	B;B;B;B;B	0.18741	0.0;0.009;0.009;0.005;0.03	B;B;B;B;B	0.13407	0.001;0.006;0.006;0.002;0.009	T	0.42865	-0.9426	10	0.02654	T	1	.	18.8032	0.92027	0.0:0.0:1.0:0.0	.	964;1442;1192;1443;1330	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	K	1443;1192;1330	ENSP00000351416:Q1443K;ENSP00000332265:Q1192K;ENSP00000427151:Q1330K	ENSP00000332265:Q1192K	Q	-	1	0	ANKRD17	74198447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.020000	0.76419	2.501000	0.84356	0.555000	0.69702	CAA	.		0.353	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73979583	G	T	73979583	3	4	24	1	0	0	0	0	1	0	0	0	646	1386	48	3	3528	3	ANKRD17	4	73979583	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1350374	73979583	117174693	223	3370											
ALB	213	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	74274503	74274507	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GAAGA	GAAGA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:74274503_74274507delGAAGA	ENST00000295897.4	+	4	552_556	c.463_467delGAAGA	c.(463-468)gaagagfs	p.EE155fs	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Frame_Shift_Del_p.EE155fs|ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					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)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCATGACAATGAAGAGACATTTTTG	0.366																																					p.154_156del		.											.	.	.	0			c.462_466del						.																																			SO:0001589	frameshift_variant	213	exon4			GACAATGAAGAGA	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.463_467delGAAGA	4.37:g.74274503_74274507delGAAGA	ENSP00000295897:p.Glu155fs	70	0		26	13	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Del	DEL	ENST00000295897.4	37	CCDS3555.1																																																																																			.		0.366	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		-	74274507	GAAGA	-	74274503	7	5	24	1	0	1	0	1	0	0	0	0	486	1291	45	0	477	0	ALB	4	74274503	Frame_Shift_Del	DEL	GAAGA	TCGA-W5-AA39-01A-11D-A417-09	294920	74274503	116879773	224	3371											
FRAS1	80144	hgsc.bcm.edu	37	4	79204119	79204119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:79204119C>A	ENST00000325942.6	+	12	1693	c.1253C>A	c.(1252-1254)tCa>tAa	p.S418*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.S418*|FRAS1_ENST00000264899.6_Nonsense_Mutation_p.S418*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	418					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						GACTGCACATCAGGTGGGTCC	0.512																																					p.S418X		.											FRAS1_ENST00000325942,NS,carcinoma,0,3	FRAS1_ENST00000325942	0	0			c.C1253A						.						50	53	52					4																	79204119		1997	4164	6161	SO:0001587	stop_gained	80144	exon12			GCACATCAGGTGG	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.1253C>A	4.37:g.79204119C>A	ENSP00000326330:p.Ser418*	46	0		19	3	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.168677|4.168677	0.78339|0.78339	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	.|.	.|.	.|.	5.6|5.6	4.67|4.67	0.58626|0.58626	.|.	.|1.016850	.|0.07870	.|N	.|0.967691	T|.	0.42494|.	0.1205|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29305|.	-1.0016|.	3|.	.|0.09084	.|T	.|0.74	.|.	14.0839|14.0839	0.64942|0.64942	0.0:0.9223:0.0:0.0777|0.0:0.9223:0.0:0.0777	.|.	.|.	.|.	.|.	K|X	347|418;418;418;158	.|.	.|ENSP00000264895:S418X	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79423143|79423143	0.994000|0.994000	0.37717|0.37717	0.885000|0.885000	0.34714|0.34714	0.316000|0.316000	0.28119|0.28119	3.343000|3.343000	0.52167|0.52167	1.200000|1.200000	0.43188|0.43188	0.563000|0.563000	0.77884|0.77884	CAG|TCA	.		0.512	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79204119	C	A	79204119	4	1	24	1	0	0	0	0	0	1	0	0	6066	838	29	3	1299	3	FRAS1	4	79204119	Nonsense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4929616	79204119	111950157	225	3372											
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	79360216	79360216	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:79360216A>G	ENST00000325942.6	+	40	5967	c.5527A>G	c.(5527-5529)Acg>Gcg	p.T1843A	FRAS1_ENST00000264895.6_Missense_Mutation_p.T1843A	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1843					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						TGACCTTATCACGGTAAACAA	0.398																																					p.T1843A		.											.	.	.	0			c.A5527G						.						203	197	199					4																	79360216		1887	4107	5994	SO:0001583	missense	80144	exon40			CTTATCACGGTAA	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.5527A>G	4.37:g.79360216A>G	ENSP00000326330:p.Thr1843Ala	25	0		13	7	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.82|12.82	2.053442|2.053442	0.36181|0.36181	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000510944;ENST00000512123|ENST00000325942;ENST00000264895;ENST00000545316	.|T;T	.|0.28895	.|1.59;1.59	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.107675	.|0.64402	.|D	.|0.000007	T|T	0.26666|0.26666	0.0652|0.0652	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27013	.|0.166;0.163	.|B;B	.|0.23716	.|0.017;0.048	T|T	0.05920|0.05920	-1.0856|-1.0856	5|10	.|0.22109	.|T	.|0.4	.|.	12.2044|12.2044	0.54345|0.54345	0.932:0.0:0.068:0.0|0.932:0.0:0.068:0.0	.|.	.|1843;1843	.|E9PHH6;A2RRR8	.|.;.	R|A	292;71|1843;1843;263	.|ENSP00000326330:T1843A;ENSP00000264895:T1843A	.|ENSP00000264895:T1843A	H|T	+|+	2|1	0|0	FRAS1|FRAS1	79579240|79579240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.417000|3.417000	0.52714|0.52714	2.270000|2.270000	0.75569|0.75569	0.477000|0.477000	0.44152|0.44152	CAC|ACG	.		0.398	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			G	79360216	A	G	79360216	3	3	24	1	0	0	0	0	1	0	0	0	6066	159	6	4	5685	4	FRAS1	4	79360216	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	156097	79360216	111794060	226	3373											
TMEM150C	441027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	83411279	83411279	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:83411279T>C	ENST00000515780.2	-	7	680	c.476A>G	c.(475-477)gAa>gGa	p.E159G	TMEM150C_ENST00000508701.1_3'UTR|TMEM150C_ENST00000449862.2_Missense_Mutation_p.E159G			B9EJG8	T150C_HUMAN	transmembrane protein 150C	159						integral component of membrane (GO:0016021)				ovary(1)	1						TCTCCGTCCTTCATTCTTGAT	0.473																																					p.E159G		.											.	.	.	0			c.A476G						.						192	195	194					4																	83411279		1939	4148	6087	SO:0001583	missense	441027	exon7			CGTCCTTCATTCT	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.476A>G	4.37:g.83411279T>C	ENSP00000420919:p.Glu159Gly	56	0		25	22	NM_001080506	B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785380	0.70337	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.43294	0.95;0.95	5.62	5.62	0.85841	.	.	.	.	.	T	0.47893	0.1470	N	0.20766	0.605	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.38415	-0.9662	9	0.18276	T	0.48	-7.5965	15.8218	0.78654	0.0:0.0:0.0:1.0	.	159	B9EJG8	T150C_HUMAN	G	159	ENSP00000403438:E159G;ENSP00000420919:E159G	ENSP00000403438:E159G	E	-	2	0	TMEM150C	83630303	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	7.040000	0.76551	2.131000	0.65755	0.379000	0.24179	GAA	.		0.473	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		C	83411279	T	C	83411279	3	2	24	1	0	0	0	0	1	0	0	0	16116	1783	62	4	281	4	TMEM150C	4	83411279	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4051063	83411279	107742997	227	3374											
HPSE	10855	hgsc.bcm.edu;bcgsc.ca	37	4	84222115	84222115	+	Silent	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:84222115G>T	ENST00000405413.2	-	12	1606	c.1470C>A	c.(1468-1470)tcC>tcA	p.S490S	HPSE_ENST00000512196.1_Silent_p.S416S|HPSE_ENST00000311412.5_Silent_p.S490S|HPSE_ENST00000513463.1_Silent_p.S432S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	490					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)	TTACTTACTTGGAAAGTAATC	0.358																																					p.S490S		.											.	.	.	0			c.C1470A						.						78	81	80					4																	84222115		2203	4300	6503	SO:0001819	synonymous_variant	10855	exon11			TTACTTGGAAAGT	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.1470C>A	4.37:g.84222115G>T		144	0		56	4	NM_001098540	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Silent	SNP	ENST00000405413.2	37	CCDS3602.1																																																																																			.		0.358	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		T	84222115	G	T	84222115	2	4	24	1	0	0	0	0	0	0	0	1	7371	1335	47	3		3	HPSE	4	84222115	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	810836	84222115	106932161	228	3375											
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	85687060	85687060	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:85687060A>C	ENST00000295888.4	-	32	5498	c.5091T>G	c.(5089-5091)aaT>aaG	p.N1697K	WDFY3_ENST00000322366.6_Missense_Mutation_p.N1697K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1697					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAATAGACTGATTACTTAGTA	0.398																																					p.N1697K		.											.	.	.	0			c.T5091G						.						143	136	139					4																	85687060		2203	4300	6503	SO:0001583	missense	23001	exon32			AGACTGATTACTT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5091T>G	4.37:g.85687060A>C	ENSP00000295888:p.Asn1697Lys	51	0		22	16	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.623610	0.66901	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.51574	0.7;0.7	5.81	-0.694	0.11294	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.68593	2.085	0.80722	D	1	D	0.54207	0.965	P	0.53266	0.722	T	0.50759	-0.8790	10	0.20046	T	0.44	.	11.3347	0.49496	0.5006:0.0:0.4994:0.0	.	1697	Q8IZQ1	WDFY3_HUMAN	K	1697	ENSP00000318466:N1697K;ENSP00000295888:N1697K	ENSP00000295888:N1697K	N	-	3	2	WDFY3	85906084	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	1.967000	0.40491	-0.072000	0.12864	-0.256000	0.11100	AAT	.		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85687060	A	C	85687060	3	2	24	1	0	0	0	0	1	0	0	0	17319	330	12	4	5637	4	WDFY3	4	85687060	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1464945	85687060	105467216	229	3376											
ADH6	130	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	100130084	100130084	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:100130084A>G	ENST00000237653.7	-	6	953	c.569T>C	c.(568-570)gTg>gCg	p.V190A	ADH6_ENST00000394899.2_Splice_Site_p.V190A|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394897.1_Splice_Site_p.V190A|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	190					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ACCTGGAGTCACCTAAACACA	0.448																																					p.V190A		.											.	.	.	0			c.T569C						.						152	157	155					4																	100130084		2203	4300	6503	SO:0001630	splice_region_variant	130	exon6			GGAGTCACCTAAA	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.568-1T>C	4.37:g.100130084A>G		28	0		9	6	NM_000672	B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702023	0.48307	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.25912	3.66;1.77;1.77;3.52	4.72	3.51	0.40186	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.89840	3.065	0.80722	D	1	D;P;D	0.89917	1.0;0.936;0.993	D;P;D	0.76071	0.987;0.828;0.953	T	0.63730	-0.6571	10	0.87932	D	0	-31.024	10.8274	0.46640	0.9203:0.0:0.0797:0.0	.	190;190;190	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	A	190;190;190;126	ENSP00000378358:V190A;ENSP00000378359:V190A;ENSP00000237653:V190A;ENSP00000426187:V126A	ENSP00000237653:V190A	V	-	2	0	ADH6	100349107	1.000000	0.71417	0.276000	0.24689	0.037000	0.13140	6.304000	0.72800	1.880000	0.54463	0.460000	0.39030	GTG	.		0.448	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	Missense_Mutation	G	100130084	A	G	100130084	5	3	24	1	0	0	0	0	0	0	1	0	312	173	6	4	578	4	ADH6	4	100130084	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	14443024	100130084	91024192	230	3377											
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	123168345	123168360	+	Frame_Shift_Del	DEL	AACCTGGTAGAACATC	AACCTGGTAGAACATC	-	rs200065287		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	AACCTGGTAGAACATC	AACCTGGTAGAACATC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:123168345_123168360delAACCTGGTAGAACATC	ENST00000264501.4	+	35	5718_5733	c.5345_5360delAACCTGGTAGAACATC	c.(5344-5361)gaacctggtagaacatcafs	p.EPGRTS1782fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.EPGRTS1782fs|KIAA1109_ENST00000455637.1_Frame_Shift_Del_p.EPGRTS1782fs			Q2LD37	K1109_HUMAN	KIAA1109	1782					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.P1783T(2)		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						AACAATGCAGAACCTGGTAGAACATCAAATTTTGAT	0.356																																					p.1782_1787del		.											.	.	.	2	Substitution - Missense(2)	breast(2)	c.5344_5359del						.																																			SO:0001589	frameshift_variant	84162	exon33			ATGCAGAACCTGG	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.5345_5360delAACCTGGTAGAACATC	4.37:g.123168345_123168360delAACCTGGTAGAACATC	ENSP00000264501:p.Glu1782fs	161	0		34	16	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL	ENST00000264501.4	37	CCDS43267.1																																																																																			.		0.356	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		-	123168360	AACCTGGTAGAACATC	-	123168345	7	5	24	1	0	1	0	1	0	0	0	0	8235	246	9	0	5475	0	KIAA1109	4	123168345	Frame_Shift_Del	DEL	AACCTGGTAGAACATC	TCGA-W5-AA39-01A-11D-A417-09	23038261	123168345	67985931	231	3378											
SLC10A7	84068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	147363937	147363937	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:147363937A>C	ENST00000507030.1	-	5	432	c.433T>G	c.(433-435)Ttg>Gtg	p.L145V	SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.L145V|SLC10A7_ENST00000394059.4_Missense_Mutation_p.L145V|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.L145V|SLC10A7_ENST00000432059.2_Intron|SLC10A7_ENST00000511374.1_3'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	145					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TTACTTACCAAAAAACTTCCA	0.289																																					p.L145V		.											.	.	.	0			c.T433G						.						44	43	44					4																	147363937		2195	4288	6483	SO:0001583	missense	84068	exon5			TTACCAAAAAACT	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.433T>G	4.37:g.147363937A>C	ENSP00000421275:p.Leu145Val	235	0		69	54	NM_032128	A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061068	0.36373	.	.	ENSG00000120519	ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.96	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	M	0.79805	2.47	0.80722	D	1	P;P;P	0.48998	0.752;0.801;0.918	P;B;B	0.46452	0.517;0.344;0.362	T	0.68454	-0.5404	9	0.56958	D	0.05	-17.3784	11.9777	0.53103	0.9325:0.0:0.0675:0.0	.	145;145;145	Q0GE19;Q0GE19-5;Q0GE19-2	NTCP7_HUMAN;.;.	V	145	.	ENSP00000334594:L145V	L	-	1	2	SLC10A7	147583387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.270000	0.51600	1.081000	0.41110	0.477000	0.44152	TTG	.		0.289	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		C	147363937	A	C	147363937	3	2	24	1	0	0	0	0	1	0	0	0	14424	11	1	4	666	4	SLC10A7	4	147363937	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	24195592	147363937	43790339	232	3379											
PLRG1	5356	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	155463385	155463385	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:155463385G>A	ENST00000499023.2	-	8	767	c.641C>T	c.(640-642)cCt>cTt	p.P214L	RNU6-1285P_ENST00000363480.1_RNA|PLRG1_ENST00000393905.2_Missense_Mutation_p.P214L|PLRG1_ENST00000302078.5_Missense_Mutation_p.P205L	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	214					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)				CTGATTTCCAGGTTCCACAGC	0.368																																					p.P214L		.											.	.	.	0			c.C641T						.						118	104	109					4																	155463385		2203	4300	6503	SO:0001583	missense	5356	exon8			TTTCCAGGTTCCA	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.641C>T	4.37:g.155463385G>A	ENSP00000424417:p.Pro214Leu	46	0		9	7	NM_002669	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.688798	0.96784	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.71222	-0.55;-0.55;-0.55	6.07	6.07	0.98685	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	0.85583	0.5730	M	0.77712	2.385	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.954;0.99	D	0.85550	0.1221	10	0.72032	D	0.01	-21.4001	20.6593	0.99626	0.0:0.0:1.0:0.0	.	205;214	O43660-2;O43660	.;PLRG1_HUMAN	L	214;214;205;212	ENSP00000424417:P214L;ENSP00000377483:P214L;ENSP00000303191:P205L	ENSP00000303191:P205L	P	-	2	0	PLRG1	155682835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CCT	.		0.368	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		A	155463385	G	A	155463385	3	1	24	1	0	0	0	0	1	0	0	0	12145	1000	35	3	935	3	PLRG1	4	155463385	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	8099448	155463385	35690891	233	3380											
TDO2	6999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	156831267	156831267	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:156831267T>G	ENST00000536354.2	+	6	586	c.522T>G	c.(520-522)ccT>ccG	p.P174P		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TGAGAGTCCCTTATAACAGAA	0.378																																					p.P174P	Colon(57;928 1036 2595 6946 26094)	.											.	.	.	0			c.T522G						.						95	100	98					4																	156831267		2203	4300	6503	SO:0001819	synonymous_variant	6999	exon6			AGTCCCTTATAAC		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.522T>G	4.37:g.156831267T>G		105	0		30	24	NM_005651		Silent	SNP	ENST00000536354.2	37	CCDS34086.1																																																																																			.		0.378	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		G	156831267	T	G	156831267	2	3	24	1	0	0	0	0	0	0	0	1	15774	1596	56	4		4	TDO2	4	156831267	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1367882	156831267	34323009	234	3381											
RAPGEF2	9693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	160262761	160262761	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:160262761T>G	ENST00000264431.4	+	14	2516	c.2097T>G	c.(2095-2097)gaT>gaG	p.D699E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	699					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)			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)		TTTGTTCAGATGAAGATGCTC	0.388																																					p.D699E		.											.	.	.	0			c.T2097G						.						68	63	65					4																	160262761		1910	4138	6048	SO:0001583	missense	9693	exon14			TTCAGATGAAGAT	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.2097T>G	4.37:g.160262761T>G	ENSP00000264431:p.Asp699Glu	39	0		15	9	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830257	0.50845	.	.	ENSG00000109756	ENST00000264431	T	0.29655	1.56	5.76	0.628	0.17681	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	M	0.62723	1.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.77557	0.99	T	0.40327	-0.9569	10	0.87932	D	0	.	9.2956	0.37813	0.0:0.2855:0.0:0.7145	.	699	Q9Y4G8	RPGF2_HUMAN	E	699	ENSP00000264431:D699E	ENSP00000264431:D699E	D	+	3	2	RAPGEF2	160482211	0.992000	0.36948	0.995000	0.50966	0.263000	0.26337	0.229000	0.17833	0.168000	0.19655	-0.417000	0.06048	GAT	.		0.388	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		G	160262761	T	G	160262761	3	3	24	1	0	0	0	0	1	0	0	0	13089	1461	51	4	2151	4	RAPGEF2	4	160262761	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3431494	160262761	30891515	235	3382											
PALLD	23022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	169824935	169824935	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:169824935A>G	ENST00000505667.1	+	15	2673	c.2500A>G	c.(2500-2502)Atc>Gtc	p.I834V	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000335742.7_Missense_Mutation_p.I659V|PALLD_ENST00000261509.6_Missense_Mutation_p.I817V|PALLD_ENST00000512127.1_Missense_Mutation_p.I435V|PALLD_ENST00000507735.1_Missense_Mutation_p.I330V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1041	Interaction with ACTN.|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)		TGGGAAGCAGATCTCTCCAAA	0.398									Pancreatic Cancer, Familial Clustering of																												p.I834V	Esophageal Squamous(109;1482 1532 18347 40239 51172)	.											.	.	.	0			c.A2500G						.						88	85	86					4																	169824935		2203	4300	6503	SO:0001583	missense	23022	exon15	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AAGCAGATCTCTC	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.2500A>G	4.37:g.169824935A>G	ENSP00000425556:p.Ile834Val	64	0		28	19	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148535	0.37923	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000393726;ENST00000507735	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.36	4.18	0.49190	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32328	U	0.006253	T	0.55401	0.1918	L	0.31845	0.965	0.80722	D	1	B;B;B;B	0.25048	0.117;0.079;0.02;0.117	B;B;B;B	0.29716	0.106;0.068;0.068;0.106	T	0.50145	-0.8862	10	0.32370	T	0.25	.	11.2148	0.48819	0.9287:0.0:0.0713:0.0	.	834;1041;435;817	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	V	817;659;834;435;110;330	ENSP00000261509:I817V;ENSP00000336735:I659V;ENSP00000425556:I834V;ENSP00000426947:I435V;ENSP00000377327:I110V;ENSP00000424016:I330V	ENSP00000261509:I817V	I	+	1	0	PALLD	170061510	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.155000	0.71833	1.053000	0.40415	-0.256000	0.11100	ATC	.		0.398	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		G	169824935	A	G	169824935	3	3	24	1	0	0	0	0	1	0	0	0	11446	333	12	4	3061	4	PALLD	4	169824935	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	9562174	169824935	21329341	236	3383											
STOX2	56977	bcgsc.ca	37	4	184931986	184931986	+	Silent	SNP	C	C	T	rs559919334		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr4:184931986C>T	ENST00000308497.4	+	3	3430	c.1995C>T	c.(1993-1995)ccC>ccT	p.P665P	STOX2_ENST00000438269.1_Silent_p.P665P	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	665					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GTGGGGGCCCCGCTGCTTCGG	0.622																																					p.P665P													.	STOX2	142	0			c.C1995T						.																																			SO:0001819	synonymous_variant	56977	exon3			GGGCCCCGCTGCT	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1995C>T	4.37:g.184931986C>T		59	0		18	3	NM_020225	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	CCDS47167.1																																																																																			.		0.622	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		T	184931986	C	T	184931986	2	4	24	1	0	0	0	0	0	0	0	1	15367	639	23	1		1	STOX2	4	184931986	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	15107051	184931986	6222290	237	3384											
SLC12A7	10723	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	1093708	1093730	+	Frame_Shift_Del	DEL	GTTGGTGTAGTTGGCCAGCTTGT	GTTGGTGTAGTTGGCCAGCTTGT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GTTGGTGTAGTTGGCCAGCTTGT	GTTGGTGTAGTTGGCCAGCTTGT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:1093708_1093730delGTTGGTGTAGTTGGCCAGCTTGT	ENST00000264930.5	-	3	303_325	c.260_282delACAAGCTGGCCAACTACACCAAC	c.(259-282)aacaagctggccaactacaccaacfs	p.NKLANYTN87fs		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	87					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)	CCTGGCTCAGGTTGGTGTAGTTGGCCAGCTTGTTGAGCAGCGA	0.709																																					p.87_95del		.											.	.	.	0			c.261_283del						.																																			SO:0001589	frameshift_variant	10723	exon3			GCTCAGGTTGGTG	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.260_282delACAAGCTGGCCAACTACACCAAC	5.37:g.1093708_1093730delGTTGGTGTAGTTGGCCAGCTTGT	ENSP00000264930:p.Asn87fs	56	0		26	10	NM_006598	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Frame_Shift_Del	DEL	ENST00000264930.5	37	CCDS34129.1																																																																																			.		0.709	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		-	1093730	GTTGGTGTAGTTGGCCAGCTTGT	-	1093708	7	5	24	1	0	1	0	1	0	0	0	0	14433	1252	44	0	3057	0	SLC12A7	5	1093708	Frame_Shift_Del	DEL	GTTGGTGTAGTTGGCCAGCTTGT	TCGA-W5-AA39-01A-11D-A417-09		1093708	179821552	238	3385											
MARCH6	10299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	10402698	10402698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:10402698G>A	ENST00000274140.5	+	14	1308	c.1176G>A	c.(1174-1176)tgG>tgA	p.W392*	MARCH6_ENST00000510792.1_Nonsense_Mutation_p.W90*|MARCH6_ENST00000503788.1_Nonsense_Mutation_p.W287*|MARCH6_ENST00000449913.2_Nonsense_Mutation_p.W344*	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	392					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGTGGTTGGTGGCTGGATA	0.358																																					p.W392X		.											.	.	.	0			c.G1176A						.						382	365	371					5																	10402698		2203	4300	6503	SO:0001587	stop_gained	10299	exon14			TGGTTGGTGGCTG	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1176G>A	5.37:g.10402698G>A	ENSP00000274140:p.Trp392*	93	0		121	18	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Nonsense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	39	7.481141	0.98309	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8348	20.1634	0.98142	0.0:0.0:1.0:0.0	.	.	.	.	X	344;287;392;90	.	ENSP00000274140:W392X	W	+	3	0	MARCH6	10455698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.112000	0.94314	2.773000	0.95371	0.655000	0.94253	TGG	.		0.358	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		A	10402698	G	A	10402698	4	1	24	1	0	0	0	0	0	1	0	0	9343	1270	44	3	1230	3	MARCH6	5	10402698	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	9308990	10402698	170512562	239	3386											
MARCH6	10299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	10433774	10433774	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:10433774C>T	ENST00000274140.5	+	26	2843	c.2711C>T	c.(2710-2712)cCt>cTt	p.P904L	MARCH6_ENST00000510792.1_Missense_Mutation_p.P602L|MARCH6_ENST00000503788.1_Missense_Mutation_p.P799L|MARCH6_ENST00000449913.2_Missense_Mutation_p.P856L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	904					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCTCCACCACCTCCACAGTCA	0.448																																					p.P904L		.											.	.	.	0			c.C2711T						.						217	174	189					5																	10433774		2203	4300	6503	SO:0001583	missense	10299	exon26			CACCACCTCCACA	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2711C>T	5.37:g.10433774C>T	ENSP00000274140:p.Pro904Leu	79	0		114	87	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549262	0.45383	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.42513	1.98;0.97;1.98;0.97	5.61	3.84	0.44239	.	0.104471	0.64402	D	0.000003	T	0.31358	0.0794	L	0.36672	1.1	0.50171	D	0.99985	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;0.0	T	0.05835	-1.0861	10	0.27785	T	0.31	-10.7604	10.8515	0.46773	0.1309:0.8016:0.0:0.0676	.	799;856;484;904	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	L	856;799;904;602	ENSP00000414643:P856L;ENSP00000425930:P799L;ENSP00000274140:P904L;ENSP00000424512:P602L	ENSP00000274140:P904L	P	+	2	0	MARCH6	10486774	0.992000	0.36948	0.085000	0.20634	0.677000	0.39632	4.505000	0.60421	0.736000	0.32559	0.563000	0.77884	CCT	.		0.448	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		T	10433774	C	T	10433774	3	4	24	1	0	0	0	0	1	0	0	0	9343	681	24	3	2813	3	MARCH6	5	10433774	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	31076	10433774	170481486	240	3387											
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	23527639	23527654	+	Frame_Shift_Del	DEL	CAATAAGTCACACCTC	CAATAAGTCACACCTC	-	rs202203985|rs201595671|rs200479090|rs199802267|rs201134410|rs200487743	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CAATAAGTCACACCTC	CAATAAGTCACACCTC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:23527639_23527654delCAATAAGTCACACCTC	ENST00000296682.3	+	11	2624_2639	c.2442_2457delCAATAAGTCACACCTC	c.(2440-2457)agcaataagtcacacctcfs	p.SNKSHL814fs		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	814					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						GGGGCTTTAGCAATAAGTCACACCTCCTCAGACACC	0.569										HNSCC(3;0.000094)																											p.814_819del		.											.	.	.	0			c.2441_2456del						.																																			SO:0001589	frameshift_variant	56979	exon11			CTTTAGCAATAAG	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.2442_2457delCAATAAGTCACACCTC	5.37:g.23527639_23527654delCAATAAGTCACACCTC	ENSP00000296682:p.Ser814fs	95	0		69	16	NM_020227	B4DX22|Q27Q50	Frame_Shift_Del	DEL	ENST00000296682.3	37	CCDS43307.1																																																																																			.		0.569	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		-	23527654	CAATAAGTCACACCTC	-	23527639	7	5	24	1	0	1	0	1	0	0	0	0	12505	709	25	0	2480	0	PRDM9	5	23527639	Frame_Shift_Del	DEL	CAATAAGTCACACCTC	TCGA-W5-AA39-01A-11D-A417-09	13093865	23527639	157387621	241	3388											
PRDM9	56979	bcgsc.ca	37	5	23527721	23527727	+	Frame_Shift_Del	DEL	CGCAATA	CGCAATA	-	rs201643800		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CGCAATA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:23527721_23527727delCGCAATA	ENST00000296682.3	+	11	2706_2712	c.2524_2530delCGCAATA	c.(2524-2532)cgcaataagfs	p.RNK842fs		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)	p.N843D(2)|p.R842H(1)		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						GCGGGGCTTTCGCAATAAGTCACACCT	0.585										HNSCC(3;0.000094)																											p.842_844del													PRDM9,brain,primitive_neuroectodermal_tumour-medulloblastoma,-1,1	PRDM9	344	3	Substitution - Missense(3)	skin(2)|central_nervous_system(1)	c.2524_2530del						.																																			SO:0001589	frameshift_variant	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.2524_2530delCGCAATA	5.37:g.23527721_23527727delCGCAATA	ENSP00000296682:p.Arg842fs	74	0		81	6	NM_020227	B4DX22|Q27Q50	Frame_Shift_Del	DEL	ENST00000296682.3	37	CCDS43307.1																																																																																			.		0.585	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		-	23527727	CGCAATA	-	23527721	7	5	24	1	0	1	0	1	0	0	0	0	12505	884	31	0	2562	0	PRDM9	5	23527721	Frame_Shift_Del	DEL	CGCAATA	TCGA-W5-AA39-01A-11D-A417-09	82	23527721	157387539	242	3389	22	2									
PRDM9	56979	bcgsc.ca	37	5	23527730	23527738	+	In_Frame_Del	DEL	TCACACCTC	TCACACCTC	-	rs561307345		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	TCACACCTC	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:23527730_23527738delTCACACCTC	ENST00000296682.3	+	11	2715_2723	c.2533_2541delTCACACCTC	c.(2533-2541)tcacacctcdel	p.SHL845del		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	845					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						TCGCAATAAGTCACACCTCCTCAGACACC	0.574										HNSCC(3;0.000094)																											p.845_847del													.	PRDM9	344	0			c.2533_2541del						.																																			SO:0001651	inframe_deletion	56979	exon11			AATAAGTCACACC	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.2533_2541delTCACACCTC	5.37:g.23527730_23527738delTCACACCTC	ENSP00000296682:p.Ser845_Leu847del	79	0		77	6	NM_020227	B4DX22|Q27Q50	In_Frame_Del	DEL	ENST00000296682.3	37	CCDS43307.1																																																																																			.		0.574	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		-	23527738	TCACACCTC	-	23527730	7	5	24	1	0	1	0	1	0	0	0	0	12505	1667	58	0	2571	0	PRDM9	5	23527730	In_Frame_Del	DEL	TCACACCTC	TCGA-W5-AA39-01A-11D-A417-09	9	23527730	157387530	243	3390	22	2									
PDZD2	23037	hgsc.bcm.edu	37	5	31983419	31983419	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:31983419A>G	ENST00000438447.1	+	3	1023	c.635A>G	c.(634-636)aAg>aGg	p.K212R	PDZD2_ENST00000282493.3_Missense_Mutation_p.K212R			O15018	PDZD2_HUMAN	PDZ domain containing 2	212					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						ACTGCGAAAAAGGGGAAACGA	0.532																																					p.K212R		.											.	.	.	0			c.A635G						.						92	90	90					5																	31983419		2203	4300	6503	SO:0001583	missense	23037	exon2			CGAAAAAGGGGAA	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.635A>G	5.37:g.31983419A>G	ENSP00000402033:p.Lys212Arg	82	0		100	4	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.218375	0.58560	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.65549	-0.16;-0.16	5.23	5.23	0.72850	.	0.000000	0.51477	D	0.000092	T	0.63965	0.2556	L	0.27053	0.805	0.35131	D	0.767995	D;D	0.67145	0.979;0.996	P;P	0.60609	0.628;0.877	T	0.71527	-0.4566	10	0.39692	T	0.17	.	13.1224	0.59334	1.0:0.0:0.0:0.0	.	38;212	B4E3P2;O15018	.;PDZD2_HUMAN	R	212	ENSP00000402033:K212R;ENSP00000282493:K212R	ENSP00000282493:K212R	K	+	2	0	PDZD2	32019176	1.000000	0.71417	0.777000	0.31699	0.130000	0.20726	7.898000	0.87363	2.198000	0.70561	0.528000	0.53228	AAG	.		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			G	31983419	A	G	31983419	3	3	24	1	0	0	0	0	1	0	0	0	11740	72	3	4	641	4	PDZD2	5	31983419	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8455689	31983419	148931841	244	3391											
SKP2	6502	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	36181926	36181926	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:36181926T>G	ENST00000274255.6	+	10	1264	c.1068T>G	c.(1066-1068)ctT>ctG	p.L356L	SKP2_ENST00000508514.1_Silent_p.L149L|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Silent_p.L142L	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	356					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGTGAACTTGGAGAAATTC	0.363																																					p.L356L		.											.	.	.	0			c.T1068G						.						101	110	107					5																	36181926		2203	4300	6503	SO:0001819	synonymous_variant	6502	exon10			TGAACTTGGAGAA	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.1068T>G	5.37:g.36181926T>G		72	0		95	18	NM_005983	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	CCDS3916.1																																																																																			.		0.363	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		G	36181926	T	G	36181926	2	3	24	1	0	0	0	0	0	0	0	1	14407	1799	63	4		4	SKP2	5	36181926	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4198507	36181926	144733334	245	3392											
FST	10468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	52779381	52779381	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:52779381A>G	ENST00000256759.3	+	3	708	c.325A>G	c.(325-327)Aac>Gac	p.N109D	FST_ENST00000396947.3_Missense_Mutation_p.N109D	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	109	Follistatin-like 1.				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)				ATGCCGAATGAACAAGAAGAA	0.527																																					p.N109D		.											.	.	.	0			c.A325G						.						80	77	78					5																	52779381		2203	4300	6503	SO:0001583	missense	10468	exon3			CGAATGAACAAGA	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.325A>G	5.37:g.52779381A>G	ENSP00000256759:p.Asn109Asp	84	0		79	22	NM_013409	B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	A	34	5.371881	0.95923	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947	T;T	0.28454	1.61;1.84	5.66	5.66	0.87406	Follistatin-like, N-terminal (1);Follistatin/Osteonectin EGF domain (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.57536	1.79	0.80722	D	1	D	0.53885	0.963	P	0.58130	0.833	T	0.27536	-1.0071	10	0.29301	T	0.29	-34.9635	15.8956	0.79333	1.0:0.0:0.0:0.0	.	109	P19883	FST_HUMAN	D	109	ENSP00000256759:N109D;ENSP00000380151:N109D	ENSP00000256759:N109D	N	+	1	0	FST	52815138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.305000	0.96197	2.154000	0.67381	0.402000	0.26972	AAC	.		0.527	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		G	52779381	A	G	52779381	3	3	24	1	0	0	0	0	1	0	0	0	6100	246	9	4	335	4	FST	5	52779381	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	16597455	52779381	128135879	246	3393											
CDC20B	166979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	54442593	54442593	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:54442593A>C	ENST00000381375.2	-	3	363	c.218T>G	c.(217-219)aTt>aGt	p.I73S	CDC20B_ENST00000296733.1_Missense_Mutation_p.I73S|CDC20B_ENST00000331730.3_Missense_Mutation_p.I52S|CDC20B_ENST00000334206.5_Missense_Mutation_p.I73S|CDC20B_ENST00000322374.6_Missense_Mutation_p.I73S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	73										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)			CCTTGTGGTAATGGGGCTACT	0.498											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I73S		.											.	.	.	0			c.T218G						.						118	109	112					5																	54442593		2203	4300	6503	SO:0001583	missense	166979	exon3			GTGGTAATGGGGC	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.218T>G	5.37:g.54442593A>C	ENSP00000370781:p.Ile73Ser	89	0	1000	65	23	NM_001170402	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.989013	0.35131	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.30182	3.17;3.17;3.17;3.17;1.54	4.7	4.7	0.59300	.	0.268702	0.26103	N	0.026334	T	0.38241	0.1033	L	0.59436	1.845	0.09310	N	1	D;P;P;P	0.57571	0.98;0.879;0.808;0.879	P;P;B;P	0.51229	0.663;0.626;0.422;0.626	T	0.24870	-1.0148	10	0.42905	T	0.14	-19.8367	10.7027	0.45937	1.0:0.0:0.0:0.0	.	73;73;73;73	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	S	73;73;73;73;52	ENSP00000335664:I73S;ENSP00000296733:I73S;ENSP00000370781:I73S;ENSP00000315720:I73S;ENSP00000330566:I52S	ENSP00000296733:I73S	I	-	2	0	CDC20B	54478350	0.043000	0.20138	0.020000	0.16555	0.092000	0.18411	4.115000	0.57865	2.093000	0.63338	0.528000	0.53228	ATT	.		0.498	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		C	54442593	A	C	54442593	3	2	24	1	0	0	0	0	1	0	0	0	3067	101	4	4	1381	4	CDC20B	5	54442593	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1663212	54442593	126472667	247	3394											
PPAP2A	8611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	54763893	54763893	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:54763893A>G	ENST00000307259.8	-	3	715	c.295T>C	c.(295-297)Tac>Cac	p.Y99H	PPAP2A_ENST00000264775.5_Missense_Mutation_p.Y100H|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	99					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				ATGGCTTTGTAAATAGTGGCT	0.403																																					p.Y100H		.											.	.	.	0			c.T298C						.						106	108	107					5																	54763893		2203	4300	6503	SO:0001583	missense	8611	exon3			CTTTGTAAATAGT	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.295T>C	5.37:g.54763893A>G	ENSP00000302229:p.Tyr99His	55	0		48	28	NM_176895	B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537187	0.85812	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.32272	1.48;1.46	5.73	5.73	0.89815	.	0.106801	0.64402	D	0.000003	T	0.66799	0.2826	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76556	-0.2916	10	0.87932	D	0	-24.7644	16.3554	0.83234	1.0:0.0:0.0:0.0	.	99;100	O14494;G3XA95	LPP1_HUMAN;.	H	100;99	ENSP00000264775:Y100H;ENSP00000302229:Y99H	ENSP00000264775:Y100H	Y	-	1	0	PPAP2A	54799650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.323000	0.78572	0.467000	0.42956	TAC	.		0.403	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			G	54763893	A	G	54763893	3	3	24	1	0	0	0	0	1	0	0	0	12329	362	13	4	575	4	PPAP2A	5	54763893	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	321300	54763893	126151367	248	3395											
IL6ST	3572	hgsc.bcm.edu	37	5	55250698	55250698	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:55250698C>T	ENST00000381298.2	-	11	1702	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.A464T|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.A464T|IL6ST_ENST00000536319.1_Intron	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	464	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATACAGGGTGCTTTATCTGAT	0.398			O		hepatocellular ca																																p.A464T		.		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	.	.	.	0			c.G1390A						.						215	207	210					5																	55250698		2203	4300	6503	SO:0001583	missense	3572	exon11			AGGGTGCTTTATC	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.1390G>A	5.37:g.55250698C>T	ENSP00000370698:p.Ala464Thr	77	0		80	4	NM_002184	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	6.865	0.528936	0.13127	.	.	ENSG00000134352	ENST00000381298;ENST00000336909	T;T	0.52295	0.67;0.67	5.94	-3.39	0.04868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.794520	0.02285	N	0.069741	T	0.34193	0.0889	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.08055	0.003;0.003	T	0.24799	-1.0150	10	0.15066	T	0.55	.	13.703	0.62620	0.2946:0.645:0.0603:0.0	.	464;464	Q17RA0;P40189	.;IL6RB_HUMAN	T	464	ENSP00000370698:A464T;ENSP00000338799:A464T	ENSP00000338799:A464T	A	-	1	0	IL6ST	55286455	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-0.289000	0.08365	-0.403000	0.07622	-0.362000	0.07510	GCA	.		0.398	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		T	55250698	C	T	55250698	3	4	24	1	0	0	0	0	1	0	0	0	7730	797	28	3	1394	3	IL6ST	5	55250698	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	486805	55250698	125664562	249	3396											
IPO11	51194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	61747688	61747688	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:61747688A>C	ENST00000325324.6	+	5	613	c.444A>C	c.(442-444)ttA>ttC	p.L148F	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.L188F	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	148					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			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)		ACAGAGCATTACTTACCTTCT	0.383																																					p.L188F		.											.	.	.	0			c.A564C						.						149	137	141					5																	61747688		2203	4300	6503	SO:0001583	missense	51194	exon5			AGCATTACTTACC	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.444A>C	5.37:g.61747688A>C	ENSP00000316651:p.Leu148Phe	73	0		66	18	NM_001134779	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868485	0.51588	.	.	ENSG00000086200	ENST00000514647;ENST00000325324;ENST00000506200;ENST00000409296	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.36	-2.91	0.05631	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	L	0.60067	1.865	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.60541	0.876;0.755	T	0.76756	-0.2842	10	0.51188	T	0.08	.	12.7556	0.57333	0.5041:0.0:0.4959:0.0	.	188;148	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	F	148;148;148;188	ENSP00000427129:L148F;ENSP00000316651:L148F;ENSP00000427274:L148F;ENSP00000386992:L188F	ENSP00000316651:L148F	L	+	3	2	IPO11	61783445	1.000000	0.71417	0.935000	0.37517	0.986000	0.74619	0.851000	0.27751	-0.455000	0.07054	-0.911000	0.02809	TTA	.		0.383	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		C	61747688	A	C	61747688	3	2	24	1	0	0	0	0	1	0	0	0	7820	388	14	4	582	4	IPO11	5	61747688	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6496990	61747688	119167572	250	3397											
SFRS12IP1	285672	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	64020374	64020374	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:64020374T>A	ENST00000513458.4	-	5	472	c.305A>T	c.(304-306)gAg>gTg	p.E102V		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	102	Lys-rich.				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						tGAAGTGTCCTCTTCAGTGGA	0.294																																					p.E102V		.											.	.	.	0			c.A305T						.						93	80	84					5																	64020374		2194	4292	6486	SO:0001583	missense	285672	exon5			GTGTCCTCTTCAG	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.305A>T	5.37:g.64020374T>A	ENSP00000427401:p.Glu102Val	122	0		102	6	NM_173829	Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583555	0.46006	.	.	ENSG00000153006	ENST00000513458	.	.	.	6.17	6.17	0.99709	.	0.330979	0.39020	N	0.001490	T	0.76357	0.3976	M	0.68593	2.085	0.46774	D	0.999199	D	0.71674	0.998	D	0.73708	0.981	T	0.77739	-0.2475	9	0.56958	D	0.05	-18.7424	13.214	0.59844	0.0:0.0:0.0:1.0	.	102	Q8N9Q2	SR1IP_HUMAN	V	102	.	ENSP00000427401:E102V	E	-	2	0	SREK1IP1	64056130	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	3.602000	0.54066	2.371000	0.80710	0.533000	0.62120	GAG	.		0.294	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		A	64020374	T	A	64020374	3	1	24	1	0	0	0	0	1	0	0	0	14213	1551	54	5	166	5	SFRS12IP1	5	64020374	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2272686	64020374	116894886	251	3398											
PIK3R1	5295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	67522582	67522582	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:67522582G>T	ENST00000521381.1	+	2	695	c.79G>T	c.(79-81)Ggt>Tgt	p.G27C	PIK3R1_ENST00000521657.1_Missense_Mutation_p.G27C|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G27C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G27C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	27	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)	CTTGCACTTGGGTGACATATT	0.428			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																											p.G27C		.		Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	.	.	.	1	Whole gene deletion(1)	large_intestine(1)	c.G79T						.						82	82	82					5																	67522582		2203	4300	6503	SO:0001583	missense	5295	exon2			CACTTGGGTGACA	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.79G>T	5.37:g.67522582G>T	ENSP00000428056:p.Gly27Cys	148	0		112	67	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761898	0.89932	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.93	5.93	0.95920	Src homology-3 domain (3);Variant SH3 (1);	0.049268	0.85682	D	0.000000	T	0.76835	0.4043	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84965	0.0879	10	0.87932	D	0	-8.5186	20.3437	0.98782	0.0:0.0:1.0:0.0	.	27	P27986	P85A_HUMAN	C	27	ENSP00000428056:G27C;ENSP00000429277:G27C;ENSP00000379855:G27C;ENSP00000274335:G27C	ENSP00000274335:G27C	G	+	1	0	PIK3R1	67558338	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GGT	.		0.428	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67522582	G	T	67522582	3	4	24	1	0	0	0	0	1	0	0	0	11957	1232	43	3	81	3	PIK3R1	5	67522582	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3502208	67522582	113392678	252	3399											
PIK3R1	5295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	67569785	67569785	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:67569785T>C	ENST00000521381.1	+	4	1062	c.446T>C	c.(445-447)cTa>cCa	p.L149P	PIK3R1_ENST00000521657.1_Missense_Mutation_p.L149P|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L149P|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L149P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	149	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.?(2)|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)	TGTTCAACTCTATACAGAACA	0.473			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																											p.L149P		.		Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	.	.	.	3	Unknown(2)|Whole gene deletion(1)	large_intestine(1)|lung(1)|breast(1)	c.T446C						.						211	196	201					5																	67569785		2203	4300	6503	SO:0001583	missense	5295	exon4			CAACTCTATACAG	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.446T>C	5.37:g.67569785T>C	ENSP00000428056:p.Leu149Pro	42	0		29	9	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075147	0.76415	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.67	5.67	0.87782	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.73179	0.3554	M	0.83774	2.66	0.80722	D	1	D	0.60575	0.988	P	0.62885	0.908	T	0.78117	-0.2329	10	0.87932	D	0	-7.1638	15.9173	0.79531	0.0:0.0:0.0:1.0	.	149	P27986	P85A_HUMAN	P	149;149;149;149;51	ENSP00000428056:L149P;ENSP00000429277:L149P;ENSP00000379855:L149P;ENSP00000274335:L149P;ENSP00000428566:L51P	ENSP00000274335:L149P	L	+	2	0	PIK3R1	67605541	1.000000	0.71417	0.953000	0.39169	0.988000	0.76386	5.959000	0.70339	2.170000	0.68504	0.533000	0.62120	CTA	.		0.473	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		C	67569785	T	C	67569785	3	2	24	1	0	0	0	0	1	0	0	0	11957	1522	53	4	456	4	PIK3R1	5	67569785	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	47203	67569785	113345475	253	3400											
RAD17	5884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	68680714	68680714	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:68680714T>A	ENST00000509734.1	+	7	1310	c.632T>A	c.(631-633)aTg>aAg	p.M211K	RAD17_ENST00000354312.3_Missense_Mutation_p.M200K|RAD17_ENST00000354868.5_Missense_Mutation_p.M200K|RAD17_ENST00000358030.2_Missense_Mutation_p.M35K|RAD17_ENST00000282891.6_Missense_Mutation_p.M114K|RAD17_ENST00000305138.4_Missense_Mutation_p.M200K|RAD17_ENST00000345306.6_Missense_Mutation_p.M200K|RAD17_ENST00000361732.2_Missense_Mutation_p.M200K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.M35K|RAD17_ENST00000380774.3_Missense_Mutation_p.M211K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	211					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)		AAGTTACAAATGCTTGGAGAT	0.323								Other conserved DNA damage response genes																													p.M211K		.											.	.	.	0			c.T632A						.						62	64	63					5																	68680714		2203	4300	6503	SO:0001583	missense	5884	exon5			TACAAATGCTTGG	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.632T>A	5.37:g.68680714T>A	ENSP00000426191:p.Met211Lys	74	0		61	33	NM_133339	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297485	0.81025	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000512785;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13	5.05	5.05	0.67936	ATPase, AAA+ type, core (1);	0.038087	0.85682	D	0.000000	T	0.42653	0.1212	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.64830	0.994;0.979;0.993	D;P;P	0.65323	0.934;0.846;0.891	T	0.36696	-0.9737	10	0.66056	D	0.02	-26.5306	14.0716	0.64863	0.0:0.0:0.0:1.0	.	211;114;200	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	200;211;200;35;200;200;35;200;114;35;211	ENSP00000355226:M200K;ENSP00000426191:M211K;ENSP00000346938:M200K;ENSP00000427743:M35K;ENSP00000346271:M200K;ENSP00000311227:M200K;ENSP00000427673:M35K;ENSP00000303134:M200K;ENSP00000282891:M114K;ENSP00000350725:M35K;ENSP00000370151:M211K	ENSP00000282891:M114K	M	+	2	0	RAD17	68716470	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.503000	0.73699	2.032000	0.59987	0.254000	0.18369	ATG	.		0.323	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		A	68680714	T	A	68680714	3	1	24	1	0	0	0	0	1	0	0	0	13024	1464	51	5	663	5	RAD17	5	68680714	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1110929	68680714	112234546	254	3401											
FCHO2	115548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	72378651	72378651	+	Splice_Site	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:72378651A>T	ENST00000430046.2	+	24	2360	c.2244A>T	c.(2242-2244)ggA>ggT	p.G748G	FCHO2_ENST00000512348.1_Splice_Site_p.G715G|FCHO2_ENST00000341845.6_Splice_Site_p.G748G	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	748	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				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)		CAGAAAATGGAGGTAAGTGTG	0.313																																					p.G748G		.											.	.	.	0			c.A2244T						.						78	73	75					5																	72378651		1807	4065	5872	SO:0001630	splice_region_variant	115548	exon24			AAATGGAGGTAAG	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.2245+1A>T	5.37:g.72378651A>T		140	0		105	63	NM_138782	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	CCDS47230.1																																																																																			.		0.313	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	Silent	T	72378651	A	T	72378651	5	4	24	1	0	0	0	0	0	0	1	0	5810	318	11	5	2338	5	FCHO2	5	72378651	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3697937	72378651	108536609	255	3402											
GPR98	84059	bcgsc.ca	37	5	89948370	89948370	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:89948370A>G	ENST00000405460.2	+	19	3720	c.3624A>G	c.(3622-3624)gtA>gtG	p.V1208V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1208	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)		TAAAACTTGTAAACATTTCAG	0.279																																					p.V1208V													GPR98,NS,carcinoma,+2,1	GPR98	605	0			c.A3624G						.						43	39	40					5																	89948370		1818	4070	5888	SO:0001819	synonymous_variant	84059	exon19			ACTTGTAAACATT	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.3624A>G	5.37:g.89948370A>G		42	0		38	13	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	2.577	-0.298276	0.05532	.	.	ENSG00000164199	ENST00000504142	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.46132	0.1377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59236	-0.7492	4	.	.	.	.	9.5378	0.39233	0.0964:0.3362:0.484:0.0834	.	.	.	.	E	797	.	.	K	+	1	0	GPR98	89984126	0.204000	0.23447	0.142000	0.22268	0.443000	0.32047	-0.433000	0.06948	-1.909000	0.01085	-0.334000	0.08254	AAA	.		0.279	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89948370	A	G	89948370	2	3	24	1	0	0	0	0	0	0	0	1	6748	349	13	4		4	GPR98	5	89948370	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	17569719	89948370	90966890	256	3403											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	90079724	90079724	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:90079724A>G	ENST00000405460.2	+	67	13599	c.13503A>G	c.(13501-13503)ctA>ctG	p.L4501L	GPR98_ENST00000425867.2_Silent_p.L162L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4501					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)		GGCGCCACCTAGTGAGCAGAA	0.438																																					p.L4501L		.											.	.	.	0			c.A13503G						.						59	57	58					5																	90079724		1839	4083	5922	SO:0001819	synonymous_variant	84059	exon67			CCACCTAGTGAGC	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.13503A>G	5.37:g.90079724A>G		91	0		62	37	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																			.		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90079724	A	G	90079724	2	3	24	1	0	0	0	0	0	0	0	1	6748	407	15	4		4	GPR98	5	90079724	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	131354	90079724	90835536	257	3404	23	4									
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	90079728	90079728	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:90079728A>G	ENST00000405460.2	+	67	13603	c.13507A>G	c.(13507-13509)Agc>Ggc	p.S4503G	GPR98_ENST00000425867.2_Missense_Mutation_p.S164G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4503					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)		CCACCTAGTGAGCAGAATCAT	0.428																																					p.S4503G		.											GPR98,NS,carcinoma,0,2	GPR98	0	0			c.A13507G						.						60	58	59					5																	90079728		1838	4082	5920	SO:0001583	missense	84059	exon67			CTAGTGAGCAGAA	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.13507A>G	5.37:g.90079728A>G	ENSP00000384582:p.Ser4503Gly	92	0		66	58	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457100	0.43634	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.26518	1.73;1.73	5.97	4.79	0.61399	.	0.177930	0.64402	D	0.000011	T	0.30198	0.0757	M	0.70595	2.14	0.27864	N	0.940298	P;B;P	0.39480	0.546;0.156;0.675	B;B;B	0.39379	0.202;0.054;0.298	T	0.26744	-1.0094	10	0.62326	D	0.03	.	10.3547	0.43956	0.7168:0.0:0.0:0.2832	.	164;4503;164	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	4503;4503;164	ENSP00000384582:S4503G;ENSP00000392618:S164G	ENSP00000296619:S4503G	S	+	1	0	GPR98	90115484	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.854000	0.48325	1.028000	0.39785	0.533000	0.62120	AGC	.		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90079728	A	G	90079728	3	3	24	1	0	0	0	0	1	0	0	0	6748	304	11	4	13773	4	GPR98	5	90079728	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4	90079728	90835532	258	3405	23	4									
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	90079731	90079731	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:90079731A>G	ENST00000405460.2	+	67	13606	c.13510A>G	c.(13510-13512)Aga>Gga	p.R4504G	GPR98_ENST00000425867.2_Missense_Mutation_p.R165G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4504					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)		CCTAGTGAGCAGAATCATAAT	0.428																																					p.R4504G		.											GPR98,caecum,carcinoma,0,1	GPR98	0	0			c.A13510G						.						61	59	59					5																	90079731		1836	4084	5920	SO:0001583	missense	84059	exon67			GTGAGCAGAATCA	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.13510A>G	5.37:g.90079731A>G	ENSP00000384582:p.Arg4504Gly	89	0		66	58	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940715	0.34283	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27557	1.66;1.66	5.97	4.86	0.63082	.	0.254076	0.44483	D	0.000460	T	0.36054	0.0953	M	0.70595	2.14	0.23492	N	0.997562	P;P;P	0.52842	0.501;0.956;0.634	B;B;B	0.44224	0.157;0.444;0.3	T	0.41448	-0.9508	10	0.52906	T	0.07	.	12.1772	0.54192	0.773:0.227:0.0:0.0	.	165;4504;165	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	4504;4504;165	ENSP00000384582:R4504G;ENSP00000392618:R165G	ENSP00000296619:R4504G	R	+	1	2	GPR98	90115487	1.000000	0.71417	0.984000	0.44739	0.632000	0.37999	2.852000	0.48310	2.275000	0.75901	0.533000	0.62120	AGA	.		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90079731	A	G	90079731	3	3	24	1	0	0	0	0	1	0	0	0	6748	180	7	4	13776	4	GPR98	5	90079731	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3	90079731	90835529	259	3406	23	4									
GPR98	84059	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	90079733	90079733	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:90079733A>C	ENST00000405460.2	+	67	13608	c.13512A>C	c.(13510-13512)agA>agC	p.R4504S	GPR98_ENST00000425867.2_Missense_Mutation_p.R165S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4504					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)		TAGTGAGCAGAATCATAATAG	0.428																																					p.R4504S		.											.	.	.	0			c.A13512C						.						61	59	60					5																	90079733		1839	4084	5923	SO:0001583	missense	84059	exon67			GAGCAGAATCATA	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.13512A>C	5.37:g.90079733A>C	ENSP00000384582:p.Arg4504Ser	91	0		66	21	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	8.573	0.880526	0.17467	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.26660	1.72;1.72	5.97	0.742	0.18341	.	0.254076	0.44483	D	0.000460	T	0.20210	0.0486	M	0.70595	2.14	0.21445	N	0.999685	B;P;P	0.48764	0.335;0.915;0.465	B;B;B	0.36666	0.086;0.23;0.178	T	0.18085	-1.0348	10	0.38643	T	0.18	.	6.1939	0.20540	0.5871:0.1256:0.2874:0.0	.	165;4504;165	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	4504;4504;165	ENSP00000384582:R4504S;ENSP00000392618:R165S	ENSP00000296619:R4504S	R	+	3	2	GPR98	90115489	0.999000	0.42202	0.690000	0.30148	0.338000	0.28826	1.734000	0.38166	0.168000	0.19655	-0.250000	0.11733	AGA	.		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90079733	A	C	90079733	3	2	24	1	0	0	0	0	1	0	0	0	6748	243	9	4	13778	4	GPR98	5	90079733	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2	90079733	90835527	260	3407	23	4									
ELL2	22936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	95236433	95236433	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:95236433A>G	ENST00000237853.4	-	7	1267	c.918T>C	c.(916-918)ccT>ccC	p.P306P	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	306					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)		TAGAACATACAGGAGATTCTG	0.398																																					p.P306P		.											.	.	.	0			c.T918C						.						75	74	74					5																	95236433		2203	4300	6503	SO:0001819	synonymous_variant	22936	exon7			ACATACAGGAGAT	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.918T>C	5.37:g.95236433A>G		57	0		66	20	NM_012081	B4DNK7	Silent	SNP	ENST00000237853.4	37	CCDS4080.1																																																																																			.		0.398	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		G	95236433	A	G	95236433	2	3	24	1	0	0	0	0	0	0	0	1	5079	175	7	4		4	ELL2	5	95236433	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5156700	95236433	85678827	261	3408											
CHD1	1105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	98240741	98240741	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:98240741T>C	ENST00000284049.3	-	2	264	c.115A>G	c.(115-117)Agt>Ggt	p.S39G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	39	Ser-rich.				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)	CCATCACTACTGCTTCCAGAA	0.448																																					p.S39G		.											.	.	.	0			c.A115G						.						120	124	123					5																	98240741		2203	4300	6503	SO:0001583	missense	1105	exon2			CACTACTGCTTCC	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.115A>G	5.37:g.98240741T>C	ENSP00000284049:p.Ser39Gly	40	0		23	10	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757632	0.69648	.	.	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.90069	-2.61	4.85	4.85	0.62838	.	0.000000	0.39274	U	0.001413	D	0.91882	0.7430	M	0.66939	2.045	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	D	0.89410	0.3702	10	0.13108	T	0.6	.	15.141	0.72609	0.0:0.0:0.0:1.0	.	39	O14646	CHD1_HUMAN	G	39	ENSP00000284049:S39G	ENSP00000284049:S39G	S	-	1	0	CHD1	98268641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.120000	0.65058	0.460000	0.39030	AGT	.		0.448	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		C	98240741	T	C	98240741	3	2	24	1	0	0	0	0	1	0	0	0	3330	1580	55	4	5153	4	CHD1	5	98240741	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3004308	98240741	82674519	262	3409											
PJA2	9867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	108714025	108714025	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:108714025T>G	ENST00000361189.2	-	4	1402	c.1163A>C	c.(1162-1164)gAa>gCa	p.E388A	PJA2_ENST00000361557.3_Missense_Mutation_p.E388A|PJA2_ENST00000511624.1_5'Flank	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	388					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)		ATTTTCTGTTTCCCTTTGTGT	0.408																																					p.E388A		.											.	.	.	0			c.A1163C						.						205	191	195					5																	108714025		2202	4300	6502	SO:0001583	missense	9867	exon4			TCTGTTTCCCTTT	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.1163A>C	5.37:g.108714025T>G	ENSP00000354775:p.Glu388Ala	80	0		76	20	NM_014819	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	8.713	0.912580	0.17907	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05580	3.42;3.42	5.43	5.43	0.79202	.	0.427911	0.23688	N	0.045550	T	0.09423	0.0232	L	0.55481	1.735	0.09310	N	1	B	0.25850	0.136	B	0.30029	0.11	T	0.13575	-1.0504	10	0.59425	D	0.04	-11.7591	11.7435	0.51807	0.0:0.0:0.1471:0.8529	.	388	O43164	PJA2_HUMAN	A	388	ENSP00000354775:E388A;ENSP00000355284:E388A	ENSP00000354775:E388A	E	-	2	0	PJA2	108741924	0.956000	0.32656	0.178000	0.23040	0.404000	0.30871	5.370000	0.66144	2.197000	0.70478	0.533000	0.62120	GAA	.		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		G	108714025	T	G	108714025	3	3	24	1	0	0	0	0	1	0	0	0	12001	1783	62	4	991	4	PJA2	5	108714025	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	10473284	108714025	72201235	263	3410											
EPB41L4A	64097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	111594968	111594968	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:111594968G>A	ENST00000261486.5	-	9	1029	c.753C>T	c.(751-753)caC>caT	p.H251H	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	251	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		TCTCCTTGAAGTGAACCTTTG	0.388																																					p.H251H		.											.	.	.	0			c.C753T						.						160	142	148					5																	111594968		1817	4091	5908	SO:0001819	synonymous_variant	64097	exon9			CTTGAAGTGAACC	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.753C>T	5.37:g.111594968G>A		77	0		73	20	NM_022140	A4FUI6	Silent	SNP	ENST00000261486.5	37	CCDS43350.1																																																																																			.		0.388	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			A	111594968	G	A	111594968	2	1	24	1	0	0	0	0	0	0	0	1	5171	1020	36	3		3	EPB41L4A	5	111594968	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2880943	111594968	69320292	264	3411											
DMXL1	1657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	118486011	118486011	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:118486011A>C	ENST00000311085.8	+	18	4569	c.4489A>C	c.(4489-4491)Agt>Cgt	p.S1497R	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1497R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1497										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)		ACTTCATTCTAGTTTACCAGG	0.443																																					p.S1497R		.											.	.	.	0			c.A4489C						.						133	130	131					5																	118486011		2202	4300	6502	SO:0001583	missense	1657	exon18			CATTCTAGTTTAC	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.4489A>C	5.37:g.118486011A>C	ENSP00000309690:p.Ser1497Arg	51	0		45	21	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031892	0.35893	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.42513	0.97;0.97	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.39020	1.185	0.80722	D	1	P;P	0.48350	0.909;0.767	B;P	0.45406	0.425;0.479	T	0.08868	-1.0701	10	0.18276	T	0.48	-19.0541	15.7495	0.77972	1.0:0.0:0.0:0.0	.	1497;1497	F5H269;Q9Y485	.;DMXL1_HUMAN	R	1497	ENSP00000309690:S1497R;ENSP00000439479:S1497R	ENSP00000309690:S1497R	S	+	1	0	DMXL1	118513910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.184000	0.69523	0.455000	0.32223	AGT	.		0.443	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118486011	A	C	118486011	3	2	24	1	0	0	0	0	1	0	0	0	4608	420	15	4	4559	4	DMXL1	5	118486011	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6891043	118486011	62429249	265	3412											
P4HA2	8974	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	131530672	131530672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:131530672delC	ENST00000401867.1	-	15	2052	c.1484delG	c.(1483-1485)ggtfs	p.G495fs	P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000360568.3_Frame_Shift_Del_p.G493fs|P4HA2_ENST00000379104.2_Frame_Shift_Del_p.G495fs|P4HA2_ENST00000166534.4_Frame_Shift_Del_p.G495fs|P4HA2_ENST00000379086.1_Frame_Shift_Del_p.G493fs|P4HA2_ENST00000379100.2_Frame_Shift_Del_p.G493fs			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	495	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TCGGTAGTCACCTTCCCCGCT	0.552																																					p.G495fs	Esophageal Squamous(68;117 1135 17362 19256 34242)	.											.	.	.	0			c.1485delT						.						224	178	193					5																	131530672		2203	4300	6503	SO:0001589	frameshift_variant	8974	exon14			TAGTCACCTTCCC	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1484delG	5.37:g.131530672delC	ENSP00000384999:p.Gly495fs	48	0		45	26	NM_004199	D3DQ85|D3DQ86|Q8WWN0	Frame_Shift_Del	DEL	ENST00000401867.1	37	CCDS4151.1																																																																																			.		0.552	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		-	131530672	C	-	131530672	7	5	24	1	0	1	0	1	0	0	0	0	11396	507	18	0	131	0	P4HA2	5	131530672	Frame_Shift_Del	DEL	C	TCGA-W5-AA39-01A-11D-A417-09	13044661	131530672	49384588	266	3413											
RAD50	10111	broad.mit.edu;bcgsc.ca	37	5	131931434	131931434	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:131931434G>A	ENST00000265335.6	+	13	2526	c.2139G>A	c.(2137-2139)aaG>aaA	p.K713K	RAD50_ENST00000378823.3_Silent_p.K574K			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	713	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAACTCAAGTCAACAGAAT	0.433								Homologous recombination																													p.K713K													.	RAD50	246	0			c.G2139A						.						75	71	73					5																	131931434		2203	4300	6503	SO:0001819	synonymous_variant	10111	exon13			ACTCAAGTCAACA	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2139G>A	5.37:g.131931434G>A		24	0		24	13	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	CCDS34233.1																																																																																			.		0.433	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		A	131931434	G	A	131931434	2	1	24	1	0	0	0	0	0	0	0	1	13029	1020	36	3		3	RAD50	5	131931434	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	400762	131931434	48983826	267	3414											
KIF3A	11127	hgsc.bcm.edu	37	5	132038286	132038286	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:132038286C>A	ENST00000378746.4	-	12	1859	c.1641G>T	c.(1639-1641)aaG>aaT	p.K547N	KIF3A_ENST00000403231.1_Missense_Mutation_p.K574N|KIF3A_ENST00000378735.1_Missense_Mutation_p.K550N|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	547					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.K547N(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAAACTTTCTTTAACTTCT	0.363																																					p.K547N		.											KIF3A,colon,carcinoma,0,1	KIF3A	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1641T						.						166	165	165					5																	132038286		2203	4300	6503	SO:0001583	missense	11127	exon12			AACTTTCTTTAAC	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1641G>T	5.37:g.132038286C>A	ENSP00000368020:p.Lys547Asn	57	0		53	3	NM_007054	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791892	0.70452	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.10099	2.91;3.65;2.93;2.91	5.7	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	M	0.79011	2.435	0.58432	D	0.999999	D;D;D;D	0.58268	0.981;0.981;0.982;0.981	D;D;P;D	0.67231	0.95;0.95;0.637;0.95	T	0.00807	-1.1558	10	0.46703	T	0.11	.	10.9563	0.47360	0.0:0.7986:0.0:0.2014	.	574;574;547;573	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	N	547;550;574;75;574	ENSP00000368020:K547N;ENSP00000368009:K550N;ENSP00000405619:K75N;ENSP00000385808:K574N	ENSP00000368009:K550N	K	-	3	2	KIF3A	132066185	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.728000	0.47319	0.351000	0.24027	0.655000	0.94253	AAG	.		0.363	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		A	132038286	C	A	132038286	3	1	24	1	0	0	0	0	1	0	0	0	8327	912	32	3	482	3	KIF3A	5	132038286	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	106852	132038286	48876974	268	3415											
FSTL4	23105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	132561381	132561381	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:132561381T>G	ENST00000265342.7	-	9	1395	c.1146A>C	c.(1144-1146)tcA>tcC	p.S382S	CTB-49A3.2_ENST00000502776.1_RNA|FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	382	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			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)			ACATCTGAGTTGAGACATCCA	0.522																																					p.S382S		.											.	.	.	0			c.A1146C						.						147	136	140					5																	132561381		2203	4300	6503	SO:0001819	synonymous_variant	23105	exon9			CTGAGTTGAGACA	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.1146A>C	5.37:g.132561381T>G		90	0		63	33	NM_015082	Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	CCDS34238.1																																																																																			.		0.522	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		G	132561381	T	G	132561381	2	3	24	1	0	0	0	0	0	0	0	1	6103	1799	63	4		4	FSTL4	5	132561381	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	523095	132561381	48353879	269	3416											
PHF15	23338	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	133887780	133887780	+	Silent	SNP	G	G	T	rs12163993	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:133887780G>T	ENST00000402835.1	+	4	447	c.192G>T	c.(190-192)ccG>ccT	p.P64P	PHF15_ENST00000361895.2_Silent_p.P64P|PHF15_ENST00000282605.4_Silent_p.P64P|PHF15_ENST00000395003.1_Silent_p.P64P																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAGATCCCGGACTCATACC	0.592																																					p.P64P		.											.	.	.	0			c.G192T						.						96	92	93					5																	133887780		2203	4300	6503	SO:0001819	synonymous_variant	23338	exon4			GATCCCGGACTCA																												ENST00000402835.1:c.192G>T	5.37:g.133887780G>T		40	0		39	11	NM_015288		Silent	SNP	ENST00000402835.1	37																																																																																				.		0.592	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			T	133887780	G	T	133887780	2	4	24	1	0	0	0	0	0	0	0	1	11865	1103	39	2		2	PHF15	5	133887780	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1326399	133887780	47027480	270	3417											
PAIP2	51247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	138700372	138700372	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:138700372A>C	ENST00000394795.2	+	3	1249	c.258A>C	c.(256-258)caA>caC	p.Q86H	CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000510080.1_Missense_Mutation_p.Q86H|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.Q86H			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	86					memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTATGGACCAAATCCAAGACC	0.378																																					p.Q86H		.											.	.	.	0			c.A258C						.						112	98	103					5																	138700372		2203	4300	6503	SO:0001583	missense	51247	exon3			GGACCAAATCCAA	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.258A>C	5.37:g.138700372A>C	ENSP00000378275:p.Gln86His	60	0		48	16	NM_001033112	B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888586	0.52014	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	5.79	3.38	0.38709	.	0.118969	0.64402	D	0.000020	T	0.54224	0.1845	L	0.59436	1.845	0.38896	D	0.957215	B	0.11235	0.004	B	0.06405	0.002	T	0.54583	-0.8272	9	0.48119	T	0.1	-24.895	7.9596	0.30064	0.7904:0.1383:0.0713:0.0	.	86	Q9BPZ3	PAIP2_HUMAN	H	86	.	ENSP00000265192:Q86H	Q	+	3	2	PAIP2	138728271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.118000	0.57884	0.984000	0.38629	0.533000	0.62120	CAA	.		0.378	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		C	138700372	A	C	138700372	3	2	24	1	0	0	0	0	1	0	0	0	11436	11	1	4	264	4	PAIP2	5	138700372	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4812592	138700372	42214888	271	3418	24	2									
PAIP2	51247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	138700374	138700374	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:138700374T>G	ENST00000394795.2	+	3	1251	c.260T>G	c.(259-261)aTc>aGc	p.I87S	CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000510080.1_Missense_Mutation_p.I87S|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.I87S			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	87					memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGGACCAAATCCAAGACCAG	0.378																																					p.I87S		.											.	.	.	0			c.T260G						.						112	98	103					5																	138700374		2203	4300	6503	SO:0001583	missense	51247	exon3			ACCAAATCCAAGA	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.260T>G	5.37:g.138700374T>G	ENSP00000378275:p.Ile87Ser	60	0		49	17	NM_001033112	B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292429	0.59976	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	5.79	4.62	0.57501	.	0.059705	0.64402	D	0.000002	T	0.37999	0.1024	L	0.38175	1.15	0.41765	D	0.989736	B	0.33549	0.417	B	0.17098	0.017	T	0.23583	-1.0184	9	0.45353	T	0.12	-13.0963	11.331	0.49477	0.0:0.0714:0.0:0.9286	.	87	Q9BPZ3	PAIP2_HUMAN	S	87	.	ENSP00000265192:I87S	I	+	2	0	PAIP2	138728273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.851000	0.75425	1.023000	0.39654	0.533000	0.62120	ATC	.		0.378	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		G	138700374	T	G	138700374	3	3	24	1	0	0	0	0	1	0	0	0	11436	1435	50	4	266	4	PAIP2	5	138700374	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2	138700374	42214886	272	3419	24	2									
APBB3	10307	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	139938329	139938329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:139938329delC	ENST00000357560.4	-	13	1745	c.1302delG	c.(1300-1302)cggfs	p.R434fs	APBB3_ENST00000354402.5_Frame_Shift_Del_p.R441fs|SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000356738.2_Frame_Shift_Del_p.R439fs|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Frame_Shift_Del_p.R211fs|APBB3_ENST00000412920.3_Frame_Shift_Del_p.R432fs	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	434	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTTGAGCCGCAGGCGGG	0.667																																					p.L442fs		.											.	.	.	0			c.1324delC						.						26	32	30					5																	139938329		2198	4293	6491	SO:0001589	frameshift_variant	10307	exon12			CTTGAGCCGCAGG	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1302delG	5.37:g.139938329delC	ENSP00000350171:p.Arg434fs	34	0		33	12	NM_006051	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Frame_Shift_Del	DEL	ENST00000357560.4	37	CCDS4229.1																																																																																			.		0.667	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		-	139938329	C	-	139938329	7	5	24	1	0	1	0	1	0	0	0	0	762	726	26	0	162	0	APBB3	5	139938329	Frame_Shift_Del	DEL	C	TCGA-W5-AA39-01A-11D-A417-09	1237955	139938329	40976931	273	3420	25	3									
APBB3	10307	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	139938333	139938335	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:139938333_139938335delAGG	ENST00000357560.4	-	13	1739_1741	c.1296_1298delCCT	c.(1294-1299)cgcctg>cgg	p.L433del	APBB3_ENST00000354402.5_In_Frame_Del_p.L440del|SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000356738.2_In_Frame_Del_p.L438del|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_In_Frame_Del_p.L210del|APBB3_ENST00000412920.3_In_Frame_Del_p.L431del	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	433	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGAGCCGCAGGCGGGCACGGG	0.655																																					p.440_440del		.											.	.	.	0			c.1318_1320del						.																																			SO:0001651	inframe_deletion	10307	exon12			AGCCGCAGGCGGG	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1296_1298delCCT	5.37:g.139938333_139938335delAGG	ENSP00000350171:p.Leu433del	34	0		25	12	NM_006051	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	In_Frame_Del	DEL	ENST00000357560.4	37	CCDS4229.1																																																																																			.		0.655	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		-	139938335	AGG	-	139938333	7	5	24	1	0	1	0	1	0	0	0	0	762	188	7	0	166	0	APBB3	5	139938333	In_Frame_Del	DEL	AGG	TCGA-W5-AA39-01A-11D-A417-09	4	139938333	40976927	274	3421	25	3									
APBB3	10307	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	139938337	139938338	+	Frame_Shift_Del	DEL	GG	GG	-	rs143692635	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GG	GG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:139938337_139938338delGG	ENST00000357560.4	-	13	1736_1737	c.1293_1294delCC	c.(1291-1296)gcccgcfs	p.R432fs	APBB3_ENST00000354402.5_Frame_Shift_Del_p.R439fs|SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000356738.2_Frame_Shift_Del_p.R437fs|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Frame_Shift_Del_p.R209fs|APBB3_ENST00000412920.3_Frame_Shift_Del_p.R430fs	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	432	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCAGGCGGGCACGGGCCT	0.658																																					p.439_439del		.											.	.	.	0			c.1315_1316del						.																																			SO:0001589	frameshift_variant	10307	exon12			GCAGGCGGGCACG	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1293_1294delCC	5.37:g.139938337_139938338delGG	ENSP00000350171:p.Arg432fs	34	0		25	12	NM_006051	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Frame_Shift_Del	DEL	ENST00000357560.4	37	CCDS4229.1																																																																																			.		0.658	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		-	139938338	GG	-	139938337	7	5	24	1	0	1	0	1	0	0	0	0	762	1116	39	0	170	0	APBB3	5	139938337	Frame_Shift_Del	DEL	GG	TCGA-W5-AA39-01A-11D-A417-09	4	139938337	40976923	275	3422	25	3									
APBB3	10307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	139939978	139939978	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:139939978G>C	ENST00000357560.4	-	12	1587	c.1144C>G	c.(1144-1146)Cgt>Ggt	p.R382G	APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000354402.5_Missense_Mutation_p.R389G|SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.R387G|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.R159G|APBB3_ENST00000412920.3_Missense_Mutation_p.R380G	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	382	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCTGACGGCCCAGGTCA	0.602																																					p.R389G		.											.	.	.	0			c.C1165G						.						59	53	55					5																	139939978		2203	4300	6503	SO:0001583	missense	10307	exon11			TCTGACGGCCCAG	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1144C>G	5.37:g.139939978G>C	ENSP00000350171:p.Arg382Gly	67	0		40	5	NM_006051	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	8.545	0.874245	0.17395	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.28	3.47	0.39725	.	0.490245	0.22961	N	0.053554	T	0.14743	0.0356	N	0.14661	0.345	0.37580	D	0.919766	B;B	0.24675	0.032;0.109	B;B	0.23018	0.016;0.043	T	0.12760	-1.0535	9	.	.	.	-0.011	5.424	0.16415	0.1534:0.0:0.5727:0.2739	.	380;387	O95704-2;O95704-3	.;.	G	387;389;382;159;380	ENSP00000349177:R387G;ENSP00000346378:R389G;ENSP00000350171:R382G;ENSP00000444013:R159G;ENSP00000402591:R380G	.	R	-	1	0	APBB3	139920162	0.087000	0.21565	0.999000	0.59377	0.999000	0.98932	1.089000	0.30890	0.596000	0.29794	0.655000	0.94253	CGT	.		0.602	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		C	139939978	G	C	139939978	3	2	24	1	0	0	0	0	1	0	0	0	762	1116	39	5	324	5	APBB3	5	139939978	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1641	139939978	40975282	276	3423											
PCDHB7	56129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	676					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)			CTCCCGGAGGCGGCCCCGGAC	0.692																																					p.A676V		.											.	.	.	0			c.C2027T						.						48	79	68					5																	140554443		2185	4283	6468	SO:0001583	missense	56129	exon1			CGGAGGCGGCCCC	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.2027C>T	5.37:g.140554443C>T	ENSP00000231137:p.Ala676Val	201	0		146	18	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004475	0.07866	.	.	ENSG00000113212	ENST00000231137	T	0.51817	0.69	3.77	-3.6	0.04570	.	.	.	.	.	T	0.17704	0.0425	N	0.10707	0.03	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.31641	-0.9936	9	0.02654	T	1	.	4.7814	0.13204	0.0:0.2545:0.3902:0.3553	.	676	Q9Y5E2	PCDB7_HUMAN	V	676	ENSP00000231137:A676V	ENSP00000231137:A676V	A	+	2	0	PCDHB7	140534627	0.000000	0.05858	0.077000	0.20336	0.306000	0.27790	-0.419000	0.07071	-0.428000	0.07339	0.449000	0.29647	GCG	.		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140554443	C	T	140554443	3	4	24	1	0	0	0	0	1	0	0	0	11586	768	27	1	2029	1	PCDHB7	5	140554443	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	614465	140554443	40360817	277	3424											
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140724331	140724331	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:140724331A>T	ENST00000253812.6	+	1	731	c.731A>T	c.(730-732)cAg>cTg	p.Q244L	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	244	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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTTACTCAGCCTGAGTAC	0.547																																					p.Q244L		.											.	.	.	0			c.A731T						.						58	60	59					5																	140724331		2176	4281	6457	SO:0001583	missense	56112	exon1			TTACTCAGCCTGA	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.731A>T	5.37:g.140724331A>T	ENSP00000253812:p.Gln244Leu	60	0		51	11	NM_032011	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.672174	0.29693	.	.	ENSG00000254245	ENST00000253812	T	0.01705	4.68	5.65	3.29	0.37713	Cadherin (3);Cadherin-like (1);	0.260649	0.19597	U	0.110470	T	0.04227	0.0117	M	0.86097	2.795	0.26529	N	0.974297	B;B	0.19935	0.04;0.005	B;B	0.22753	0.041;0.013	T	0.12604	-1.0541	10	0.52906	T	0.07	.	9.636	0.39809	0.8582:0.0:0.1418:0.0	.	244;244	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	L	244	ENSP00000253812:Q244L	ENSP00000253812:Q244L	Q	+	2	0	PCDHGA3	140704515	0.755000	0.28372	0.725000	0.30721	0.683000	0.39861	5.208000	0.65203	0.526000	0.28541	-0.256000	0.11100	CAG	.		0.547	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140724331	A	T	140724331	3	4	24	1	0	0	0	0	1	0	0	0	11594	188	7	5	733	5	PCDHGA3	5	140724331	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	169888	140724331	40190929	278	3425											
PCDHGB1	56104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140730180	140730180	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:140730180T>C	ENST00000523390.1	+	1	353	c.353T>C	c.(352-354)gTt>gCt	p.V118A	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	118	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(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)			CACGTGGTTGTTGTAATCCAA	0.423																																					p.V118A		.											.	.	.	0			c.T353C						.						65	65	65					5																	140730180		1879	4112	5991	SO:0001583	missense	56104	exon1			TGGTTGTTGTAAT	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.353T>C	5.37:g.140730180T>C	ENSP00000429273:p.Val118Ala	63	0		61	16	NM_018922	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.215012	0.79352	.	.	ENSG00000254221	ENST00000523390	T	0.59364	0.27	5.46	5.46	0.80206	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85487	0.5708	H	0.98866	4.355	0.33189	D	0.550622	D;D	0.64830	0.994;0.989	D;P	0.70935	0.971;0.887	D	0.93494	0.6838	9	0.87932	D	0	.	15.4972	0.75662	0.0:0.0:0.0:1.0	.	118;118	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	A	118	ENSP00000429273:V118A	ENSP00000429273:V118A	V	+	2	0	PCDHGB1	140710364	1.000000	0.71417	0.064000	0.19789	0.816000	0.46133	7.558000	0.82253	2.197000	0.70478	0.460000	0.39030	GTT	.		0.423	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		C	140730180	T	C	140730180	3	2	24	1	0	0	0	0	1	0	0	0	11601	1725	60	4	355	4	PCDHGB1	5	140730180	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5849	140730180	40185080	279	3426											
PCDHGA4	56111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140736182	140736182	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:140736182T>C	ENST00000571252.1	+	1	1415	c.1415T>C	c.(1414-1416)tTa>tCa	p.L472S	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	472	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)			GCCTCCATCTTATCTATGACT	0.512																																					p.L472S		.											.	.	.	0			c.T1415C						.						120	125	123					5																	140736182		2073	4244	6317	SO:0001583	missense	56111	exon1			CCATCTTATCTAT	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.1415T>C	5.37:g.140736182T>C	ENSP00000458570:p.Leu472Ser	46	0		24	14	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																			.		0.512	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		C	140736182	T	C	140736182	3	2	24	1	0	0	0	0	1	0	0	0	11595	1764	61	4	1417	4	PCDHGA4	5	140736182	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6002	140736182	40179078	280	3427											
PCDHGA6	56109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140755037	140755037	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:140755037G>A	ENST00000517434.1	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	463	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)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGTCCTTGAAAACAACCC	0.527																																					p.E463K		.											PCDHGA6_ENST00000517434,NS,carcinoma,0,1	PCDHGA6_ENST00000517434	0	0			c.G1387A						.						138	151	147					5																	140755037		2038	4213	6251	SO:0001583	missense	56109	exon1			GTCCTTGAAAACA	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.1387G>A	5.37:g.140755037G>A	ENSP00000429601:p.Glu463Lys	21	0		30	13	NM_018919	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	17.51	3.406921	0.62399	.	.	ENSG00000253731	ENST00000517434	T	0.76316	-1.01	5.13	5.13	0.70059	Cadherin (4);Cadherin-like (1);	0.000000	0.31301	U	0.007895	D	0.93458	0.7913	H	0.98965	4.385	0.44194	D	0.997015	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95691	0.8740	10	0.87932	D	0	.	19.1356	0.93426	0.0:0.0:1.0:0.0	.	463;463	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	K	463	ENSP00000429601:E463K	ENSP00000429601:E463K	E	+	1	0	PCDHGA6	140735221	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	7.831000	0.86748	2.826000	0.97356	0.655000	0.94253	GAA	.		0.527	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		A	140755037	G	A	140755037	3	1	24	1	0	0	0	0	1	0	0	0	11597	1291	45	3	1389	3	PCDHGA6	5	140755037	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	18855	140755037	40160223	281	3428											
SPRY4	81848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	141694180	141694180	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:141694180C>A	ENST00000434127.2	-	2	737	c.494G>T	c.(493-495)tGt>tTt	p.C165F	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.C188F	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	165	Cys-rich.				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)			CTTGCATTTACACTTCCCACA	0.632									Testicular Cancer, Familial Clustering of																												p.C188F		.											.	.	.	0			c.G563T						.						67	70	69					5																	141694180		2203	4300	6503	SO:0001583	missense	81848	exon3	Familial Cancer Database		CATTTACACTTCC	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.494G>T	5.37:g.141694180C>A	ENSP00000399468:p.Cys165Phe	30	0		40	11	NM_030964	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206648	0.79127	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	T;T	0.65178	-0.14;-0.14	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85824	0.1387	10	0.87932	D	0	-7.0511	18.9994	0.92828	0.0:1.0:0.0:0.0	.	165	Q9C004	SPY4_HUMAN	F	188;165	ENSP00000344967:C188F;ENSP00000399468:C165F	ENSP00000344967:C188F	C	-	2	0	SPRY4	141674364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.486000	0.83907	0.561000	0.74099	TGT	.		0.632	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			A	141694180	C	A	141694180	3	1	24	1	0	0	0	0	1	0	0	0	15155	478	17	3	409	3	SPRY4	5	141694180	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	939143	141694180	39221080	282	3429											
SPINK5	11005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	147498034	147498034	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:147498034A>T	ENST00000256084.7	+	23	2189	c.2147A>T	c.(2146-2148)aAt>aTt	p.N716I	SPINK5_ENST00000359874.3_Missense_Mutation_p.N716I|SPINK5_ENST00000398454.1_Missense_Mutation_p.N716I	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	716	Kazal-like 11. {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)			CAAATGAAAAATGGAAGACTC	0.403																																					p.N716I		.											.	.	.	0			c.A2147T						.						130	131	130					5																	147498034		1923	4119	6042	SO:0001583	missense	11005	exon23			TGAAAAATGGAAG	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.2147A>T	5.37:g.147498034A>T	ENSP00000256084:p.Asn716Ile	79	0		70	12	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.355169	0.41700	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.75	4.59	0.56863	Proteinase inhibitor I1, Kazal (1);	0.625437	0.15012	N	0.285511	T	0.14184	0.0343	M	0.62266	1.93	0.25185	N	0.990175	P;P;P;P	0.47034	0.527;0.889;0.823;0.794	B;P;B;P	0.47941	0.288;0.562;0.359;0.562	T	0.09751	-1.0660	10	0.38643	T	0.18	-7.7572	8.8087	0.34954	0.9149:0.0:0.0851:0.0	.	697;716;716;716	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	I	716;716;697;716	ENSP00000381472:N716I;ENSP00000352936:N716I;ENSP00000421519:N697I;ENSP00000256084:N716I	ENSP00000256084:N716I	N	+	2	0	SPINK5	147478227	0.264000	0.24093	0.819000	0.32651	0.393000	0.30537	2.370000	0.44240	1.122000	0.41944	0.533000	0.62120	AAT	.		0.403	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		T	147498034	A	T	147498034	3	4	24	1	0	0	0	0	1	0	0	0	15109	101	4	5	2237	5	SPINK5	5	147498034	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5803854	147498034	33417226	283	3430											
SAP30L	79685	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	153835544	153835544	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:153835544A>T	ENST00000297109.6	+	4	1156	c.508A>T	c.(508-510)Agt>Tgt	p.S170C	SAP30L_ENST00000426761.2_Missense_Mutation_p.S124C|SAP30L_ENST00000440364.2_Missense_Mutation_p.S129C	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGTAACAAGAGTAGACTGGA	0.448																																					p.S170C		.											.	.	.	0			c.A508T						.						159	145	150					5																	153835544		2203	4300	6503	SO:0001583	missense	79685	exon4			AACAAGAGTAGAC	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.508A>T	5.37:g.153835544A>T	ENSP00000297109:p.Ser170Cys	56	0		61	14	NM_024632	E9PAU7|E9PAY2	Missense_Mutation	SNP	ENST00000297109.6	37	CCDS4326.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443561	0.83993	.	.	ENSG00000164576	ENST00000297109;ENST00000440364;ENST00000426761	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.75484	0.962;0.962;0.986	T	0.76085	-0.3088	9	0.87932	D	0	-12.3715	16.3453	0.83126	1.0:0.0:0.0:0.0	.	124;129;170	E9PAY2;E9PAU7;Q9HAJ7	.;.;SP30L_HUMAN	C	170;129;124	.	ENSP00000297109:S170C	S	+	1	0	SAP30L	153815737	1.000000	0.71417	0.998000	0.56505	0.546000	0.35178	9.125000	0.94402	2.261000	0.74972	0.533000	0.62120	AGT	.		0.448	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		T	153835544	A	T	153835544	3	4	24	1	0	0	0	0	1	0	0	0	13880	304	11	5	522	5	SAP30L	5	153835544	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6337510	153835544	27079716	284	3431											
IL12B	3593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	158749517	158749517	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:158749517G>C	ENST00000231228.2	-	4	822	c.367C>G	c.(367-369)Ccc>Gcc	p.P123A		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	123					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)			TTATTTTTGGGTTCTGGATTT	0.383																																					p.P123A		.											.	.	.	0			c.C367G						.						70	71	71					5																	158749517		2203	4300	6503	SO:0001583	missense	3593	exon4			TTTTGGGTTCTGG	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.367C>G	5.37:g.158749517G>C	ENSP00000231228:p.Pro123Ala	60	0		65	29	NM_002187		Missense_Mutation	SNP	ENST00000231228.2	37	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328886	0.41197	.	.	ENSG00000113302	ENST00000231228	T	0.23552	1.9	5.87	1.6	0.23607	Fibronectin, type III (1);	0.777388	0.12862	N	0.433016	T	0.23171	0.0560	M	0.62723	1.935	0.27613	N	0.94859	B	0.28783	0.222	B	0.16722	0.016	T	0.12941	-1.0528	10	0.46703	T	0.11	-4.8247	7.9342	0.29920	0.4162:0.0:0.5838:0.0	.	123	P29460	IL12B_HUMAN	A	123	ENSP00000231228:P123A	ENSP00000231228:P123A	P	-	1	0	IL12B	158682095	0.992000	0.36948	0.984000	0.44739	0.991000	0.79684	0.481000	0.22260	0.312000	0.23038	0.655000	0.94253	CCC	.		0.383	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		C	158749517	G	C	158749517	3	2	24	1	0	0	0	0	1	0	0	0	7652	1261	44	5	635	5	IL12B	5	158749517	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	4913973	158749517	22165743	285	3432											
ODZ2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	167671562	167671562	+	Silent	SNP	C	C	T	rs368288670		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:167671562C>T	ENST00000518659.1	+	26	5697	c.5658C>T	c.(5656-5658)agC>agT	p.S1886S	TENM2_ENST00000519204.1_Silent_p.S1765S|TENM2_ENST00000545108.1_Silent_p.S1885S|TENM2_ENST00000403607.2_Silent_p.S1710S|TENM2_ENST00000520394.1_Silent_p.S1647S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1886					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)										TGCCCAGCAGCGGGCTGGCAG	0.572																																					p.S1877S		.											ODZ2_ENST00000519204,NS,carcinoma,0,3	ODZ2_ENST00000519204	0	0			c.C5631T						.	C		0,3882		0,0,1941	56	62	60		5631	-3.2	0.9	5		60	8,8248		0,8,4120	no	coding-synonymous	ODZ2	NM_001122679.1		0,8,6061	TT,TC,CC		0.0969,0.0,0.0659		1877/2766	167671562	8,12130	1941	4128	6069	SO:0001819	synonymous_variant	57451	exon26			CAGCAGCGGGCTG	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.5658C>T	5.37:g.167671562C>T		27	0		24	5	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				.		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167671562	C	T	167671562	2	4	24	1	0	0	0	0	0	0	0	1	10874	767	27	1		1	ODZ2	5	167671562	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	8922045	167671562	13243698	286	3433											
HRH2	3274	hgsc.bcm.edu	37	5	175111128	175111128	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:175111128G>T	ENST00000231683.2	+	1	2665	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	HRH2_ENST00000377291.2_Missense_Mutation_p.G298W	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	298					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.G298W(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTTCCGCACCGGGTACCAACA	0.567																																					p.G298W		.											HRH2_ENST00000377291,middle_lobe,carcinoma,0,3	HRH2_ENST00000377291	0	1	Substitution - Missense(1)	lung(1)	c.G892T						.						97	84	88					5																	175111128		2203	4300	6503	SO:0001583	missense	3274	exon2			CGCACCGGGTACC		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.892G>T	5.37:g.175111128G>T	ENSP00000231683:p.Gly298Trp	28	0		36	2	NM_001131055	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286347	0.59867	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.37915	1.17;1.17	5.21	5.21	0.72293	.	0.425026	0.24323	N	0.039529	T	0.37785	0.1016	N	0.08118	0	0.45108	D	0.998125	P;D	0.56746	0.811;0.977	P;P	0.58721	0.6;0.844	T	0.50329	-0.8841	10	0.87932	D	0	.	17.7435	0.88413	0.0:0.0:1.0:0.0	.	298;298	P25021;Q7Z5R9	HRH2_HUMAN;.	W	298	ENSP00000366506:G298W;ENSP00000231683:G298W	ENSP00000231683:G298W	G	+	1	0	HRH2	175043734	1.000000	0.71417	0.027000	0.17364	0.195000	0.23768	9.736000	0.98828	2.442000	0.82660	0.650000	0.86243	GGG	.		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			T	175111128	G	T	175111128	3	4	24	1	0	0	0	0	1	0	0	0	7383	1116	39	2	894	2	HRH2	5	175111128	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	7439566	175111128	5804132	287	3434											
UIMC1	51720	hgsc.bcm.edu	37	5	176396234	176396234	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:176396234G>A	ENST00000377227.4	-	6	654	c.522C>T	c.(520-522)aaC>aaT	p.N174N	UIMC1_ENST00000377219.2_Silent_p.N174N|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000506128.1_Silent_p.N174N|UIMC1_ENST00000511320.1_Silent_p.N174N			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	174	Necessary for interaction with NR6A1 N- terminus.				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)	p.N174N(1)		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)			CCTCAGCCTCGTTTCCCTGAC	0.502																																					p.N174N		.											UIMC1,NS,carcinoma,0,1	UIMC1	0	1	Substitution - coding silent(1)	endometrium(1)	c.C522T						.						85	87	86					5																	176396234		2203	4300	6503	SO:0001819	synonymous_variant	51720	exon6			AGCCTCGTTTCCC	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.522C>T	5.37:g.176396234G>A		81	0		71	3	NM_016290	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	CCDS4408.1																																																																																			.		0.502	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		A	176396234	G	A	176396234	2	1	24	1	0	0	0	0	0	0	0	1	17020	1136	40	1		1	UIMC1	5	176396234	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1285106	176396234	4519026	288	3435											
ZNF354A	6940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	178154001	178154001	+	Splice_Site	SNP	C	C	G	rs539667926		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:178154001C>G	ENST00000335815.2	-	3	356	c.159G>C	c.(157-159)ctG>ctC	p.L53L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	53	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)		TTTCCTTACCCAGTGAGACCA	0.453																																					p.L53L		.											.	.	.	0			c.G159C						.						95	97	96					5																	178154001		2203	4300	6503	SO:0001630	splice_region_variant	6940	exon3			CTTACCCAGTGAG	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.160+1G>C	5.37:g.178154001C>G		138	0		97	56	NM_005649	Q9UNJ8	Silent	SNP	ENST00000335815.2	37	CCDS4438.1																																																																																			.		0.453	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	Silent	G	178154001	C	G	178154001	5	3	24	1	0	0	0	0	0	0	1	0	17912	608	21	5	1670	5	ZNF354A	5	178154001	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1757767	178154001	2761259	289	3436											
ZFP2	80108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	178359047	178359047	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:178359047A>C	ENST00000361362.2	+	5	1263	c.733A>C	c.(733-735)Aat>Cat	p.N245H	ZFP2_ENST00000523286.1_Missense_Mutation_p.N245H|ZFP2_ENST00000503510.2_Missense_Mutation_p.N245H|ZFP2_ENST00000520301.1_Missense_Mutation_p.N245H	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	245					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(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CTATGAATGTAATGAATGTGG	0.378																																					p.N245H		.											.	.	.	0			c.A733C						.						60	63	62					5																	178359047		2203	4300	6503	SO:0001583	missense	80108	exon5			GAATGTAATGAAT	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.733A>C	5.37:g.178359047A>C	ENSP00000354453:p.Asn245His	68	0		69	41	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	13.79	2.342512	0.41498	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	4.85	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34460	N	0.003951	T	0.03915	0.0110	N	0.25201	0.72	0.09310	N	1	B	0.25667	0.131	B	0.22152	0.038	T	0.35450	-0.9788	10	0.62326	D	0.03	-9.2371	10.007	0.41964	0.831:0.169:0.0:0.0	.	245	Q6ZN57	ZFP2_HUMAN	H	245	ENSP00000354453:N245H;ENSP00000430980:N245H;ENSP00000430531:N245H;ENSP00000438114:N245H	ENSP00000354453:N245H	N	+	1	0	ZFP2	178291653	0.000000	0.05858	0.527000	0.27925	0.876000	0.50452	-1.259000	0.02861	2.023000	0.59567	0.477000	0.44152	AAT	.		0.378	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		C	178359047	A	C	178359047	3	2	24	1	0	0	0	0	1	0	0	0	17689	362	13	4	735	4	ZFP2	5	178359047	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	205046	178359047	2556213	290	3437											
ZNF354C	30832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	178506225	178506225	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:178506225A>C	ENST00000315475.6	+	5	1098	c.792A>C	c.(790-792)agA>agC	p.R264S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		CTCATCAGAGAATTCATACTG	0.383																																					p.R264S		.											.	.	.	0			c.A792C						.						58	62	61					5																	178506225		2203	4300	6503	SO:0001583	missense	30832	exon5			TCAGAGAATTCAT		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.792A>C	5.37:g.178506225A>C	ENSP00000324064:p.Arg264Ser	71	0		55	12	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227680	0.58668	.	.	ENSG00000177932	ENST00000315475	T	0.02395	4.31	3.7	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	L	0.55743	1.74	0.32373	N	0.555591	D	0.76494	0.999	D	0.69479	0.964	T	0.14392	-1.0474	9	0.72032	D	0.01	-19.838	6.4383	0.21835	0.7848:0.0:0.2151:0.0	.	264	Q86Y25	Z354C_HUMAN	S	264	ENSP00000324064:R264S	ENSP00000324064:R264S	R	+	3	2	ZNF354C	178438831	0.000000	0.05858	0.996000	0.52242	0.993000	0.82548	-0.144000	0.10280	0.152000	0.19188	0.482000	0.46254	AGA	.		0.383	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			C	178506225	A	C	178506225	3	2	24	1	0	0	0	0	1	0	0	0	17914	243	9	4	806	4	ZNF354C	5	178506225	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	147178	178506225	2409035	291	3438											
BTNL9	153579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	180477173	180477173	+	Silent	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:180477173C>G	ENST00000327705.9	+	4	771	c.540C>G	c.(538-540)ccC>ccG	p.P180P	BTNL9_ENST00000515271.1_Silent_p.P111P|BTNL9_ENST00000376842.3_Silent_p.P180P|BTNL9_ENST00000376841.2_Silent_p.P180P	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	180						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)			GCTGGTACCCCAAGCCTAAGG	0.587																																					p.P180P		.											.	.	.	0			c.C540G						.						83	84	84					5																	180477173		2203	4300	6503	SO:0001819	synonymous_variant	153579	exon4			GTACCCCAAGCCT	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.540C>G	5.37:g.180477173C>G		37	0		38	21	NM_152547	A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	CCDS4460.2																																																																																			.		0.587	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		G	180477173	C	G	180477173	2	3	24	1	0	0	0	0	0	0	0	1	1572	581	21	5		5	BTNL9	5	180477173	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1970948	180477173	438087	292	3439											
BTNL9	153579	hgsc.bcm.edu;broad.mit.edu	37	5	180480244	180480244	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr5:180480244G>C	ENST00000327705.9	+	5	1012	c.781G>C	c.(781-783)Gcg>Ccg	p.A261P	BTNL9_ENST00000515271.1_Missense_Mutation_p.A192P|BTNL9_ENST00000376842.3_Missense_Mutation_p.A261P|BTNL9_ENST00000376841.2_Missense_Mutation_p.A261P|BTNL9_ENST00000511589.1_3'UTR	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	261						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)			CGCGTTCGTCGCGACCCTGCC	0.736																																					p.A261P		.											.	.	.	0			c.G781C						.						14	18	17					5																	180480244		2168	4237	6405	SO:0001583	missense	153579	exon5			TTCGTCGCGACCC	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.781G>C	5.37:g.180480244G>C	ENSP00000330200:p.Ala261Pro	8	0		8	4	NM_152547	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	13.24	2.178366	0.38511	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.42131	4.23;1.01;0.98;3.98	3.93	3.04	0.35103	.	.	.	.	.	T	0.24509	0.0594	N	0.12182	0.205	0.09310	N	1	P;B	0.45348	0.856;0.322	B;B	0.39706	0.307;0.179	T	0.04029	-1.0983	9	0.36615	T	0.2	.	10.191	0.43026	0.0:0.2039:0.7961:0.0	.	192;261	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	P	261;261;261;261;192	ENSP00000366037:A261P;ENSP00000330200:A261P;ENSP00000366038:A261P;ENSP00000427345:A192P	ENSP00000330200:A261P	A	+	1	0	BTNL9	180412850	0.038000	0.19896	0.002000	0.10522	0.007000	0.05969	1.615000	0.36922	0.934000	0.37316	0.187000	0.17357	GCG	.		0.736	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		C	180480244	G	C	180480244	3	2	24	1	0	0	0	0	1	0	0	0	1572	1087	38	5	795	5	BTNL9	5	180480244	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3071	180480244	435016	293	3440											
RREB1	6239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	7249158	7249158	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:7249158T>G	ENST00000349384.6	+	12	5335	c.5021T>G	c.(5020-5022)cTg>cGg	p.L1674R	RREB1_ENST00000334984.6_Missense_Mutation_p.L1463R|RREB1_ENST00000379938.2_Missense_Mutation_p.L1729R|RREB1_ENST00000379933.3_Missense_Mutation_p.L1674R	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1674					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)				CACCCAATCCTGGCCACAGCT	0.652																																					p.L1729R		.											.	.	.	0			c.T5186G						.						6	7	7					6																	7249158		2130	4201	6331	SO:0001583	missense	6239	exon13			CAATCCTGGCCAC	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.5021T>G	6.37:g.7249158T>G	ENSP00000305560:p.Leu1674Arg	45	0		28	14	NM_001003699	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	6.171	0.399711	0.11696	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.39787	1.75;1.63;1.75;1.06	4.79	2.41	0.29592	.	.	.	.	.	T	0.44138	0.1279	M	0.67953	2.075	0.09310	N	1	D;D;D	0.89917	0.989;0.994;1.0	P;P;D	0.87578	0.885;0.77;0.998	T	0.26916	-1.0089	9	0.87932	D	0	-6.205	7.5154	0.27598	0.0:0.1709:0.0:0.8291	.	1463;1674;1729	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	R	1674;1729;1674;1463	ENSP00000369265:L1674R;ENSP00000369270:L1729R;ENSP00000305560:L1674R;ENSP00000335574:L1463R	ENSP00000335574:L1463R	L	+	2	0	RREB1	7194157	0.998000	0.40836	0.009000	0.14445	0.030000	0.12068	2.771000	0.47670	0.229000	0.21039	0.260000	0.18958	CTG	.		0.652	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			G	7249158	T	G	7249158	3	3	24	1	0	0	0	0	1	0	0	0	13724	1580	55	4	5224	4	RREB1	6	7249158	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09		7249158	163865909	294	3441											
BMP6	654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	7880449	7880449	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:7880449A>G	ENST00000283147.6	+	7	1574	c.1415A>G	c.(1414-1416)tAt>tGt	p.Y472C		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	472					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)					AACCCCGAGTATGTCCCCAAA	0.433																																					p.Y472C		.											.	.	.	0			c.A1415G						.						185	195	192					6																	7880449		2203	4300	6503	SO:0001583	missense	654	exon7			CCGAGTATGTCCC	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.1415A>G	6.37:g.7880449A>G	ENSP00000283147:p.Tyr472Cys	72	0		54	30	NM_001718	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.512738	0.64522	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	D	0.83755	-1.76	5.65	5.65	0.86999	Transforming growth factor-beta, C-terminal (3);	0.051940	0.85682	D	0.000000	T	0.81683	0.4874	L	0.36672	1.1	0.58432	D	0.999991	D	0.58268	0.982	P	0.60682	0.878	T	0.81918	-0.0713	10	0.37606	T	0.19	.	15.8773	0.79173	1.0:0.0:0.0:0.0	.	472	P22004	BMP6_HUMAN	C	394;472;435	ENSP00000283147:Y472C	ENSP00000283147:Y472C	Y	+	2	0	BMP6	7825448	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.641000	0.67881	2.149000	0.67028	0.533000	0.62120	TAT	.		0.433	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		G	7880449	A	G	7880449	3	3	24	1	0	0	0	0	1	0	0	0	1466	449	16	4	1441	4	BMP6	6	7880449	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	631291	7880449	163234618	295	3442											
GCNT2	2651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	10621588	10621588	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:10621588T>C	ENST00000379597.3	+	2	1486	c.930T>C	c.(928-930)gtT>gtC	p.V310V	GCNT2_ENST00000495262.1_Silent_p.V310V|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Silent_p.V24V|GCNT2_ENST00000265012.4_Silent_p.V310V|GCNT2_ENST00000316170.3_Silent_p.V308V			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	310					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTGCAGGTGTTCCTGGCTCTA	0.468																																					p.V310V		.											.	.	.	0			c.T930C						.						89	78	82					6																	10621588		2203	4300	6503	SO:0001819	synonymous_variant	2651	exon4			AGGTGTTCCTGGC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.930T>C	6.37:g.10621588T>C		44	0		25	9	NM_145649		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																			.		0.468	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		C	10621588	T	C	10621588	2	2	24	1	0	0	0	0	0	0	0	1	6326	1770	62	4		4	GCNT2	6	10621588	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2741139	10621588	160493479	296	3443											
SLC17A3	10786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	25850686	25850686	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:25850686C>T	ENST00000360657.3	-	7	1045		c.e7+1		SLC17A3_ENST00000397060.4_Splice_Site|SLC17A3_ENST00000361703.6_Splice_Site			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						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						AACATACTCACGTCTCTGATG	0.403																																					.		.											.	.	.	0			c.759+1G>A						.						180	139	153					6																	25850686		2203	4300	6503	SO:0001630	splice_region_variant	10786	exon8			TACTCACGTCTCT	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.759+1G>A	6.37:g.25850686C>T		45	0		40	24	NM_006632	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Splice_Site	SNP	ENST00000360657.3	37	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	7.632	0.679015	0.14841	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	.	.	.	3.53	2.66	0.31614	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9028	0.24293	0.0:0.873:0.0:0.127	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A3	25958665	0.996000	0.38824	0.999000	0.59377	0.323000	0.28346	4.283000	0.58977	1.050000	0.40346	-0.237000	0.12165	.	.		0.403	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2		Intron	T	25850686	C	T	25850686	5	4	24	1	0	0	0	0	0	0	1	0	14463	550	19	1	522	1	SLC17A3	6	25850686	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	15229098	25850686	145264381	297	3444											
ZNF184	7738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	27420544	27420544	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:27420544A>C	ENST00000211936.6	-	6	1078	c.794T>G	c.(793-795)cTt>cGt	p.L265R	ZNF184_ENST00000377419.1_Missense_Mutation_p.L265R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	265					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						ATGGTTTATAAGGTTTTCACT	0.373																																					p.L265R		.											.	.	.	0			c.T794G						.						103	109	107					6																	27420544		2203	4300	6503	SO:0001583	missense	7738	exon6			TTTATAAGGTTTT	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.794T>G	6.37:g.27420544A>C	ENSP00000211936:p.Leu265Arg	48	0		55	24	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198407	0.58126	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.53640	0.61;0.61	4.99	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000688	T	0.53417	0.1795	M	0.64404	1.975	0.37666	D	0.922958	D	0.89917	1.0	D	0.87578	0.998	T	0.58880	-0.7558	10	0.72032	D	0.01	.	9.4274	0.38588	0.8416:0.0:0.0:0.1584	.	265	Q99676	ZN184_HUMAN	R	265	ENSP00000211936:L265R;ENSP00000366636:L265R	ENSP00000211936:L265R	L	-	2	0	ZNF184	27528523	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.668000	0.68074	2.093000	0.63338	0.374000	0.22700	CTT	.		0.373	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		C	27420544	A	C	27420544	3	2	24	1	0	0	0	0	1	0	0	0	17799	72	3	4	1465	4	ZNF184	6	27420544	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1569858	27420544	143694523	298	3445											
DOM3Z	1797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	31938791	31938791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:31938791C>A	ENST00000375349.3	-	3	901	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Nonsense_Mutation_p.E164*|DXO_ENST00000375356.3_Nonsense_Mutation_p.E164*|STK19_ENST00000375333.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	164					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										GTCTCCACTTCACTCAGGTAT	0.602																																					p.E164X		.											.	.	.	0			c.G490T						.						88	102	97					6																	31938791		1510	2707	4217	SO:0001587	stop_gained	1797	exon3			CCACTTCACTCAG	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"DOM-3 (C. elegans) homolog Z", "dom-3 homolog Z (C. elegans)"	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.490G>T	6.37:g.31938791C>A	ENSP00000364498:p.Glu164*	73	0		54	28	NM_005510	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Nonsense_Mutation	SNP	ENST00000375349.3	37	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	C	37	6.007131	0.97195	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-21.2717	16.5761	0.84648	0.0:1.0:0.0:0.0	.	.	.	.	X	164	.	ENSP00000337759:E164X	E	-	1	0	DOM3Z	32046770	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	6.993000	0.76245	2.434000	0.82447	0.561000	0.74099	GAA	.		0.602	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			A	31938791	C	A	31938791	4	1	24	1	0	0	0	0	0	1	0	0	4719	835	29	3	720	3	DOM3Z	6	31938791	Nonsense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4518247	31938791	139176276	299	3446											
ATF6B	1388	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	32086802	32086813	+	In_Frame_Del	DEL	CAGTACTGCTTG	CAGTACTGCTTG	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CAGTACTGCTTG	CAGTACTGCTTG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:32086802_32086813delCAGTACTGCTTG	ENST00000375203.3	-	10	1104_1115	c.1072_1083delCAAGCAGTACTG	c.(1072-1083)caagcagtactgdel	p.QAVL358del	ATF6B_ENST00000375201.4_In_Frame_Del_p.QAVL355del	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	358	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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						GGTTGTCAGCCAGTACTGCTTGCAGCCGAGCC	0.613																																					p.358_362del		.											.	.	.	0			c.1073_1084del						.																																			SO:0001651	inframe_deletion	1388	exon10			GTCAGCCAGTACT		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.1072_1083delCAAGCAGTACTG	6.37:g.32086802_32086813delCAGTACTGCTTG	ENSP00000364349:p.Gln358_Leu361del	58	0		44	19	NM_004381	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	In_Frame_Del	DEL	ENST00000375203.3	37	CCDS4737.1																																																																																			.		0.613	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			-	32086813	CAGTACTGCTTG	-	32086802	7	5	24	1	0	1	0	1	0	0	0	0	1086	581	21	0	1064	0	ATF6B	6	32086802	In_Frame_Del	DEL	CAGTACTGCTTG	TCGA-W5-AA39-01A-11D-A417-09	148011	32086802	139028265	300	3447											
NOTCH4	4855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	32166895	32166895	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:32166895G>A	ENST00000375023.3	-	24	4481	c.4343C>T	c.(4342-4344)cCt>cTt	p.P1448L	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1448					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						GCACAGCACAGGCCAGGGAAG	0.617																																					p.P1448L		.											.	.	.	0			c.C4343T						.						13	15	14					6																	32166895		1505	2695	4200	SO:0001583	missense	4855	exon24			AGCACAGGCCAGG		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.4343C>T	6.37:g.32166895G>A	ENSP00000364163:p.Pro1448Leu	23	0		25	8	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	7.024	0.559331	0.13436	.	.	ENSG00000204301	ENST00000375023	T	0.80909	-1.43	5.2	4.34	0.51931	.	0.000000	0.43747	D	0.000523	T	0.49575	0.1565	L	0.27053	0.805	0.80722	D	1	B;B	0.18461	0.0;0.028	B;B	0.15870	0.001;0.014	T	0.48768	-0.9006	10	0.11182	T	0.66	.	11.3409	0.49533	0.0876:0.0:0.9124:0.0	.	1448;1447	Q99466;B0S882	NOTC4_HUMAN;.	L	1448	ENSP00000364163:P1448L	ENSP00000364163:P1448L	P	-	2	0	NOTCH4	32274873	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	4.490000	0.60319	1.431000	0.47355	0.555000	0.69702	CCT	.		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32166895	G	A	32166895	3	1	24	1	0	0	0	0	1	0	0	0	10590	1000	35	3	1696	3	NOTCH4	6	32166895	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	80093	32166895	138948172	301	3448											
TAP1	6890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	32820888	32820888	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:32820888G>A	ENST00000354258.4	-	1	867	c.706C>T	c.(706-708)Ctt>Ttt	p.L236F	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	236					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CAGCCTAGAAGCCGACGCACA	0.672																																					p.L236F		.											.	.	.	0			c.C706T						.						20	23	22					6																	32820888		1508	2708	4216	SO:0001583	missense	6890	exon1			CTAGAAGCCGACG		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.706C>T	6.37:g.32820888G>A	ENSP00000346206:p.Leu236Phe	50	0		43	12	NM_000593	Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200762	0.58234	.	.	ENSG00000168394	ENST00000354258	D	0.84873	-1.91	4.52	1.67	0.24075	ABC transporter, transmembrane domain, type 1 (1);	.	.	.	.	T	0.76357	0.3976	M	0.84948	2.725	0.38584	D	0.950259	P	0.37398	0.593	B	0.38194	0.267	T	0.73464	-0.3974	9	0.87932	D	0	-0.0037	3.5282	0.07766	0.2138:0.0:0.5791:0.2071	.	236	Q03518	TAP1_HUMAN	F	236	ENSP00000346206:L236F	ENSP00000346206:L236F	L	-	1	0	TAP1	32928866	0.998000	0.40836	0.001000	0.08648	0.404000	0.30871	2.949000	0.49074	0.136000	0.18733	0.637000	0.83480	CTT	.		0.672	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		A	32820888	G	A	32820888	3	1	24	1	0	0	0	0	1	0	0	0	15597	971	34	3	1764	3	TAP1	6	32820888	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	653993	32820888	138294179	302	3449											
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	33631568	33631568	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:33631568C>G	ENST00000374316.5	+	12	2119	c.1059C>G	c.(1057-1059)tgC>tgG	p.C353W	ITPR3_ENST00000605930.1_Missense_Mutation_p.C353W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	353	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	TCAAGTACTGCCTGGTGGCTG	0.597																																					p.C353W		.											ITPR3_ENST00000374316,NS,carcinoma,0,2	ITPR3_ENST00000374316	0	0			c.C1059G						.						71	68	69					6																	33631568		2203	4300	6503	SO:0001583	missense	3710	exon11			GTACTGCCTGGTG	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.1059C>G	6.37:g.33631568C>G	ENSP00000363435:p.Cys353Trp	63	0		43	9	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823667	0.32237	.	.	ENSG00000096433	ENST00000374316	D	0.86956	-2.19	4.63	2.63	0.31362	MIR motif (2);MIR (2);	0.122450	0.56097	D	0.000033	T	0.62563	0.2438	L	0.34521	1.04	0.32237	N	0.573176	B	0.16603	0.018	B	0.15484	0.013	T	0.52328	-0.8590	10	0.38643	T	0.18	-16.4408	3.8073	0.08782	0.2176:0.5469:0.139:0.0966	.	353	Q14573	ITPR3_HUMAN	W	353	ENSP00000363435:C353W	ENSP00000363435:C353W	C	+	3	2	ITPR3	33739546	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.604000	0.46274	1.131000	0.42111	0.491000	0.48974	TGC	.		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		G	33631568	C	G	33631568	3	3	24	1	0	0	0	0	1	0	0	0	7949	747	26	5	1101	5	ITPR3	6	33631568	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	810680	33631568	137483499	303	3450											
CDKN1A	1026	hgsc.bcm.edu	37	6	36652119	36652192	+	Frame_Shift_Del	DEL	GGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	GGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	-	rs368592299|rs566071526|rs367848692|rs374965936|rs143676546|rs34916193|rs569995916|rs565736236|rs548336812|rs144146573|rs200191871|rs376278884	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	GGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:36652119_36652192delGGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	ENST00000405375.1	+	2	476_549	c.241_314delGGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	c.(241-315)gggccccggcgaggccgggatgagttgggaggaggcaggcggcctggcacctcacctgctctgctgcaggggacafs	p.GPRRGRDELGGGRRPGTSPALLQGT81fs	CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.GPRRGRDELGGGRRPGTSPALLQGT115fs|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.GPRRGRDELGGGRRPGTSPALLQGT81fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.GPRRGRDELGGGRRPGTSPALLQGT81fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	81					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)	p.R86W(1)|p.R93S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCTTCCCACGGGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGACAGCAGAGGAA	0.65																																					p.80_105del		.											.	.	.	2	Substitution - Missense(2)	lung(1)|kidney(1)	c.240_313del	GRCh37	CM065058	CDKN1A	M	rs34916193	.																																			SO:0001589	frameshift_variant	1026	exon2			CCCACGGGGCCCC	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.241_314delGGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	6.37:g.36652119_36652192delGGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	ENSP00000384849:p.Gly81fs	37	0		35	0	NM_000389	Q14010|Q6FI05|Q9BUT4	Frame_Shift_Del	DEL	ENST00000405375.1	37	CCDS4824.1																																																																																			.		0.65	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		-	36652192	GGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	-	36652119	7	5	24	1	0	1	0	1	0	0	0	0	3165	1232	43	0	243	0	CDKN1A	6	36652119	Frame_Shift_Del	DEL	GGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC	TCGA-W5-AA39-01A-11D-A417-09	3020551	36652119	134462948	304	3451											
FTSJD2	23070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	37441251	37441251	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:37441251T>C	ENST00000373451.4	+	17	1859	c.1695T>C	c.(1693-1695)acT>acC	p.T565T		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	565					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)										TGCAGGGCACTGAGATTGACA	0.572																																					p.T565T		.											.	.	.	0			c.T1695C						.						126	113	117					6																	37441251		2203	4300	6503	SO:0001819	synonymous_variant	23070	exon17			GGGCACTGAGATT	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.1695T>C	6.37:g.37441251T>C		23	0		35	18	NM_015050	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1																																																																																			.		0.572	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		C	37441251	T	C	37441251	2	2	24	1	0	0	0	0	0	0	0	1	6115	1567	55	4		4	FTSJD2	6	37441251	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	789132	37441251	133673816	305	3452											
PRICKLE4	29964	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	41751913	41751913	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:41751913C>G	ENST00000394260.1	+	1	57	c.57C>G	c.(55-57)aaC>aaG	p.N19K	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.N59K|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.N59K|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.N59K|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.N19K			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	19	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.					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)			TGGACACCAACCAAGCCCCCA	0.547																																					p.N59K		.											.	.	.	0			c.C177G						.						153	121	132					6																	41751913		2203	4300	6503	SO:0001583	missense	29964	exon4			CACCAACCAAGCC	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.57C>G	6.37:g.41751913C>G	ENSP00000377803:p.Asn19Lys	86	0		53	27	NM_013397	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37		.	.	.	.	.	.	.	.	.	.	C	14.57	2.574031	0.45902	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	T;T;T;T;T	0.69926	-0.2;-0.44;-0.2;-0.31;-0.07	4.54	2.76	0.32466	.	1.076960	0.07148	N	0.848582	T	0.29491	0.0735	N	0.22421	0.69	0.09310	N	1	P	0.37276	0.589	B	0.33960	0.173	T	0.20042	-1.0287	10	0.44086	T	0.13	-1.4749	6.5487	0.22420	0.0:0.7843:0.0:0.2157	.	59	Q2TBC4-3	.	K	59;59;59;19;19	ENSP00000404911:N59K;ENSP00000352128:N59K;ENSP00000377806:N59K;ENSP00000377802:N19K;ENSP00000377803:N19K	ENSP00000335185:N59K	N	+	3	2	PRICKLE4	41859891	0.000000	0.05858	0.001000	0.08648	0.510000	0.34073	-0.180000	0.09754	0.554000	0.29061	0.561000	0.74099	AAC	.		0.547	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		G	41751913	C	G	41751913	3	3	24	1	0	0	0	0	1	0	0	0	12531	506	18	5	183	5	PRICKLE4	6	41751913	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4310662	41751913	129363154	306	3453											
UBR2	23304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	42644579	42644579	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:42644579T>G	ENST00000372899.1	+	40	4704	c.4446T>G	c.(4444-4446)gcT>gcG	p.A1482A	UBR2_ENST00000372901.1_Silent_p.A1482A|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1482					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)			CAGTTCTTGCTTTGTATAAAA	0.358																																					p.A1482A		.											.	.	.	0			c.T4446G						.						134	122	126					6																	42644579		2203	4300	6503	SO:0001819	synonymous_variant	23304	exon40			TCTTGCTTTGTAT	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.4446T>G	6.37:g.42644579T>G		71	0		50	31	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	CCDS4870.1																																																																																			.		0.358	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		G	42644579	T	G	42644579	2	3	24	1	0	0	0	0	0	0	0	1	16951	1596	56	4		4	UBR2	6	42644579	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	892666	42644579	128470488	307	3454											
MRPL2	51069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	43022170	43022170	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:43022170T>C	ENST00000388752.3	-	7	1184	c.760A>G	c.(760-762)Aaa>Gaa	p.K254E	MRPL2_ENST00000489623.1_3'UTR|MRPL2_ENST00000230413.5_3'UTR|CUL7_ENST00000265348.3_5'Flank|CUL7_ENST00000535468.1_5'Flank	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	254					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ATGACCCGTTTGTTATGATCA	0.567																																					p.K254E		.											.	.	.	0			c.A760G						.						82	66	71					6																	43022170		2203	4300	6503	SO:0001583	missense	51069	exon7			CCCGTTTGTTATG	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"Mitochondrial ribosomal proteins / large subunits"	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.760A>G	6.37:g.43022170T>C	ENSP00000373404:p.Lys254Glu	42	0		27	5	NM_015950	B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	37	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696513	0.88830	.	.	ENSG00000112651	ENST00000388752	T	0.41400	1.0	5.53	2.96	0.34315	Translation protein SH3-like (1);Ribosomal protein L2, domain 3 (1);Ribosomal protein L2, C-terminal (1);	0.097816	0.64402	D	0.000001	T	0.25938	0.0632	N	0.26092	0.79	0.80722	D	1	P	0.34562	0.457	P	0.47786	0.557	T	0.11012	-1.0605	10	0.39692	T	0.17	-10.3179	10.882	0.46944	0.0:0.0:0.314:0.686	.	254	Q5T653	RM02_HUMAN	E	254	ENSP00000373404:K254E	ENSP00000373404:K254E	K	-	1	0	MRPL2	43130148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.738000	0.55067	0.906000	0.36621	0.460000	0.39030	AAA	.		0.567	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			C	43022170	T	C	43022170	3	2	24	1	0	0	0	0	1	0	0	0	9823	1821	63	4	161	4	MRPL2	6	43022170	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	377591	43022170	128092897	308	3455											
SLC25A27	9481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	46630146	46630146	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:46630146T>G	ENST00000371347.5	+	4	669	c.417T>G	c.(415-417)gtT>gtG	p.V139V	SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000452689.2_Silent_p.V53V|SLC25A27_ENST00000411689.2_Silent_p.V139V	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	139					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			TGGCTGGTGTTATTGGCCAGT	0.388																																					p.V139V		.											.	.	.	0			c.T417G						.						100	96	97					6																	46630146		1863	4096	5959	SO:0001819	synonymous_variant	9481	exon4			TGGTGTTATTGGC	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"Solute carriers"	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.417T>G	6.37:g.46630146T>G		71	0		67	15	NM_001204051	F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	37	CCDS43470.1																																																																																			.		0.388	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		G	46630146	T	G	46630146	2	3	24	1	0	0	0	0	0	0	0	1	14535	1741	61	4		4	SLC25A27	6	46630146	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3607976	46630146	124484921	309	3456											
RHAG	6005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	49574864	49574864	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:49574864T>G	ENST00000371175.4	-	8	1163	c.1137A>C	c.(1135-1137)acA>acC	p.T379T	RHAG_ENST00000229810.7_Splice_Site_p.R339R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	379					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TATGCTGACCTGTCATCAGAC	0.398																																					p.T379T	Ovarian(176;476 2003 7720 43408 44749)	.											.	.	.	0			c.A1137C						.						76	74	75					6																	49574864		2203	4300	6503	SO:0001630	splice_region_variant	6005	exon8			CTGACCTGTCATC		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1138+1A>C	6.37:g.49574864T>G		66	0		39	29	NM_000324	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	CCDS4927.1																																																																																			.		0.398	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Silent	G	49574864	T	G	49574864	5	3	24	1	0	0	0	0	0	0	1	0	13360	1594	55	4	104	4	RHAG	6	49574864	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2944718	49574864	121540203	310	3457											
BMP5	653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	55638874	55638874	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:55638874C>A	ENST00000370830.3	-	4	1698	c.1000G>T	c.(1000-1002)Gac>Tac	p.D334Y	BMP5_ENST00000446683.2_Missense_Mutation_p.D334Y	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	334					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)			CTGGAGGAGTCCTGATGAGAG	0.473																																					p.D334Y		.											.	.	.	0			c.G1000T						.						161	141	148					6																	55638874		2203	4299	6502	SO:0001583	missense	653	exon4			AGGAGTCCTGATG		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.1000G>T	6.37:g.55638874C>A	ENSP00000359866:p.Asp334Tyr	86	0		84	46	NM_021073	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334373	0.81801	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.73575	-0.76;-0.38	5.73	5.73	0.89815	.	0.358596	0.34652	N	0.003783	T	0.71550	0.3353	L	0.32530	0.975	0.53688	D	0.999974	P;P	0.51147	0.942;0.942	P;P	0.52909	0.713;0.713	T	0.75317	-0.3360	10	0.87932	D	0	.	19.8944	0.96949	0.0:1.0:0.0:0.0	.	334;334	B4E0Y4;P22003	.;BMP5_HUMAN	Y	334	ENSP00000359866:D334Y;ENSP00000391818:D334Y	ENSP00000359866:D334Y	D	-	1	0	BMP5	55746833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.030000	0.49720	2.694000	0.91930	0.643000	0.83706	GAC	.		0.473	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			A	55638874	C	A	55638874	3	1	24	1	0	0	0	0	1	0	0	0	1465	855	30	3	380	3	BMP5	6	55638874	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	6064010	55638874	115476193	311	3458											
PHF3	23469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	64416712	64416712	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:64416712A>C	ENST00000262043.3	+	13	3997	c.3657A>C	c.(3655-3657)gcA>gcC	p.A1219A	PHF3_ENST00000393387.1_Silent_p.A1219A			Q92576	PHF3_HUMAN	PHD finger protein 3	1219					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTCTGTGGCAAAATTTGTTA	0.418																																					p.A1219A	GBM(135;136 1820 29512 34071 46235)	.											.	.	.	0			c.A3657C						.						145	135	138					6																	64416712		2203	4300	6503	SO:0001819	synonymous_variant	23469	exon12			TGTGGCAAAATTT	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3657A>C	6.37:g.64416712A>C		94	0		72	19	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452448	0.26074	.	.	ENSG00000118482	ENST00000505138	.	.	.	5.66	3.24	0.37175	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42832	-0.9428	4	.	.	.	-19.8802	9.8078	0.40803	0.8593:0.0:0.1407:0.0	.	.	.	.	P	8	.	.	Q	+	2	0	PHF3	64474671	0.982000	0.34865	1.000000	0.80357	0.994000	0.84299	0.373000	0.20484	0.926000	0.37118	0.402000	0.26972	CAA	.		0.418	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			C	64416712	A	C	64416712	2	2	24	1	0	0	0	0	0	0	0	1	11875	117	5	4		4	PHF3	6	64416712	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8777838	64416712	106698355	312	3459											
EEF1A1	1915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	74229629	74229629	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:74229629T>G	ENST00000316292.9	-	1	1112	c.121A>C	c.(121-123)Aaa>Caa	p.K41Q	EEF1A1_ENST00000309268.6_Missense_Mutation_p.K41Q|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K41Q|EEF1A1_ENST00000491404.1_5'Flank	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	41	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCTCAAATTTTTCAATGGTT	0.413																																					p.K41Q		.											.	.	.	0			c.A121C						.						111	114	113					6																	74229629		2203	4300	6503	SO:0001583	missense	1915	exon2			CAAATTTTTCAAT	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.121A>C	6.37:g.74229629T>G	ENSP00000339063:p.Lys41Gln	130	0		96	62	NM_001402	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.882343	0.51908	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.63815	0.2543	M	0.71296	2.17	0.80722	D	1	B;P;P;P;P	0.37141	0.137;0.584;0.584;0.584;0.584	B;B;B;B;B	0.40864	0.07;0.177;0.177;0.177;0.342	T	0.72821	-0.4177	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	41;41;41;41;41	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	Q	41	ENSP00000339063:K41Q;ENSP00000339053:K41Q;ENSP00000330054:K41Q;ENSP00000348651:K41Q;ENSP00000392366:K41Q	ENSP00000339053:K41Q	K	-	1	0	EEF1A1	74286350	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.669000	0.83911	1.874000	0.54306	0.454000	0.30748	AAA	.		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		G	74229629	T	G	74229629	3	3	24	1	0	0	0	0	1	0	0	0	4937	1850	64	4	1295	4	EEF1A1	6	74229629	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	9812917	74229629	96885438	313	3460											
UBE2CBP	90025	hgsc.bcm.edu	37	6	83667047	83667047	+	Missense_Mutation	SNP	C	C	T	rs557165335		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:83667047C>T	ENST00000369747.3	-	9	1255	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	378	HECT-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										GGAATTCACACGGCGAAGGGA	0.463													T|||	1	0.000199681	0	0	5008	,	,		17808	0.001		0	False		,,,				2504	0				p.R378H		.											UBE2CBP,NS,carcinoma,0,1	UBE2CBP	0	0			c.G1133A						.						118	97	104					6																	83667047		2203	4300	6503	SO:0001583	missense	90025	exon9			TTCACACGGCGAA	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.1133G>A	6.37:g.83667047C>T	ENSP00000358762:p.Arg378His	58	0		47	2	NM_198920	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	T	0.816	-0.750263	0.03041	.	.	ENSG00000118420	ENST00000369747	T	0.28895	1.59	5.57	-8.9	0.00782	.	0.689394	0.16128	N	0.228309	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.27331	-1.0077	10	0.15499	T	0.54	10.6038	10.3705	0.44051	0.2054:0.6096:0.0:0.1851	.	378	Q7Z6J8	UB2CB_HUMAN	H	378	ENSP00000358762:R378H	ENSP00000358762:R378H	R	-	2	0	UBE2CBP	83723766	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.325000	0.02687	-2.392000	0.00585	-1.390000	0.01156	CGT	.		0.463	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		T	83667047	C	T	83667047	3	4	24	1	0	0	0	0	1	0	0	0	16896	536	19	1	44	1	UBE2CBP	6	83667047	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	9437418	83667047	87448020	314	3461											
SNX14	57231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	86235879	86235879	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:86235879T>G	ENST00000314673.3	-	21	2248	c.2072A>C	c.(2071-2073)cAa>cCa	p.Q691P	SNX14_ENST00000346348.3_Missense_Mutation_p.Q638P|SNX14_ENST00000505648.1_Missense_Mutation_p.Q639P|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.Q682P	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	691					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATCAAGAAATTGTGTTTCCCC	0.333																																					p.Q691P		.											.	.	.	0			c.A2072C						.						37	37	37					6																	86235879		2203	4299	6502	SO:0001583	missense	57231	exon21			AGAAATTGTGTTT	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2072A>C	6.37:g.86235879T>G	ENSP00000313121:p.Gln691Pro	57	0		69	19	NM_153816	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660962	0.67700	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.01	3.83	0.44106	Phox homologous domain (1);	0.057622	0.64402	N	0.000001	T	0.35624	0.0938	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.69824	0.966;0.931;0.925;0.953	T	0.14559	-1.0468	10	0.51188	T	0.08	-10.3507	11.8996	0.52675	0.0:0.0:0.1461:0.8539	.	682;638;691;639	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	P	638;148;691;639;682;609;56	ENSP00000257769:Q638P;ENSP00000313121:Q691P;ENSP00000427380:Q639P;ENSP00000358641:Q682P;ENSP00000425630:Q609P;ENSP00000391981:Q56P	ENSP00000313121:Q691P	Q	-	2	0	SNX14	86292598	1.000000	0.71417	0.936000	0.37596	0.960000	0.62799	7.459000	0.80802	0.731000	0.32448	-0.316000	0.08728	CAA	.		0.333	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		G	86235879	T	G	86235879	3	3	24	1	0	0	0	0	1	0	0	0	14930	1812	63	4	804	4	SNX14	6	86235879	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2568832	86235879	84879188	315	3462											
SNX14	57231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	86267770	86267770	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:86267770A>C	ENST00000314673.3	-	7	734	c.558T>G	c.(556-558)atT>atG	p.I186M	SNX14_ENST00000346348.3_Missense_Mutation_p.I142M|SNX14_ENST00000505648.1_Missense_Mutation_p.I134M|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.I186M|SNX14_ENST00000369627.2_Missense_Mutation_p.I186M|RP11-321N4.5_ENST00000503906.1_3'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	186	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TAATAGATGGAATATCCACCT	0.279																																					p.I186M		.											.	.	.	0			c.T558G						.						103	105	104					6																	86267770		2201	4286	6487	SO:0001583	missense	57231	exon7			AGATGGAATATCC	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.558T>G	6.37:g.86267770A>C	ENSP00000313121:p.Ile186Met	80	0		83	19	NM_153816	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661294	0.67700	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000509338;ENST00000514419	T;T;T;T;T;T	0.32023	1.84;1.9;1.47;1.9;1.89;1.88	5.63	0.492	0.16872	Phox-associated domain (2);	0.050982	0.85682	D	0.000000	T	0.14830	0.0358	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.50710	0.896;0.938;0.915;0.896	P;P;P;P	0.49387	0.575;0.576;0.609;0.575	T	0.02610	-1.1134	10	0.32370	T	0.25	-18.0338	9.0915	0.36614	0.6968:0.0:0.3032:0.0	.	186;142;186;134	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	M	142;186;186;134;186;113;90;185	ENSP00000257769:I142M;ENSP00000313121:I186M;ENSP00000420938:I186M;ENSP00000427380:I134M;ENSP00000358641:I186M;ENSP00000425630:I113M	ENSP00000313121:I186M	I	-	3	3	SNX14	86324489	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.662000	0.25038	0.140000	0.18849	0.533000	0.62120	ATT	.		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		C	86267770	A	C	86267770	3	2	24	1	0	0	0	0	1	0	0	0	14930	242	9	4	2374	4	SNX14	6	86267770	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	31891	86267770	84847297	316	3463											
SYNCRIP	10492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	86351134	86351134	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:86351134T>C	ENST00000369622.3	-	2	524	c.24A>G	c.(22-24)ggA>ggG	p.G8G	SYNCRIP_ENST00000355238.6_Silent_p.G8G	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	8					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|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)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CAGTACCATTTCCATTAACAT	0.363																																					p.G8G		.											.	.	.	0			c.A24G						.						79	71	74					6																	86351134		2203	4300	6503	SO:0001819	synonymous_variant	10492	exon2			ACCATTTCCATTA	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.24A>G	6.37:g.86351134T>C		66	0		56	28	NM_006372	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	CCDS5005.1																																																																																			.		0.363	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		C	86351134	T	C	86351134	2	2	24	1	0	0	0	0	0	0	0	1	15491	1770	62	4		4	SYNCRIP	6	86351134	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	83364	86351134	84763933	317	3464											
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	90449961	90449961	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:90449961T>G	ENST00000369393.3	-	32	4700	c.4585A>C	c.(4585-4587)Aaa>Caa	p.K1529Q	MDN1_ENST00000428876.1_Missense_Mutation_p.K1529Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1529					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)		ACCTCCTTTTTTCCAAAGTCA	0.383																																					p.K1529Q		.											.	.	.	0			c.A4585C						.						91	91	91					6																	90449961		2203	4300	6503	SO:0001583	missense	23195	exon32			CCTTTTTTCCAAA	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.4585A>C	6.37:g.90449961T>G	ENSP00000358400:p.Lys1529Gln	86	0		100	56	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	t	17.55	3.416809	0.62511	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.40225	1.04;1.04	5.22	5.22	0.72569	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73319	-0.4020	10	0.59425	D	0.04	.	15.4726	0.75453	0.0:0.0:0.0:1.0	.	1529	Q9NU22	MDN1_HUMAN	Q	1529	ENSP00000358400:K1529Q;ENSP00000413970:K1529Q	ENSP00000358400:K1529Q	K	-	1	0	MDN1	90506682	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.904000	0.87408	2.120000	0.65058	0.458000	0.33432	AAA	.		0.383	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90449961	T	G	90449961	3	3	24	1	0	0	0	0	1	0	0	0	9453	1850	64	4	12489	4	MDN1	6	90449961	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4098827	90449961	80665106	318	3465											
GJA10	84694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	90604202	90604202	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:90604202C>G	ENST00000369352.1	+	1	15	c.15C>G	c.(13-15)aaC>aaG	p.N5K		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	5					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-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;0.0915)		GGGACTGGAACTTATTGGGTG	0.433																																					p.N5K		.											.	.	.	0			c.C15G						.						164	171	168					6																	90604202		2203	4300	6503	SO:0001583	missense	84694	exon1			CTGGAACTTATTG	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.15C>G	6.37:g.90604202C>G	ENSP00000358358:p.Asn5Lys	77	0		61	18	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024332	0.54683	.	.	ENSG00000135355	ENST00000369352	D	0.99014	-5.33	4.8	-1.72	0.08107	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	L	0.40543	1.245	0.41527	D	0.988431	D	0.76494	0.999	D	0.79784	0.993	D	0.96104	0.9071	10	0.62326	D	0.03	.	10.1938	0.43043	0.0:0.4119:0.0:0.5881	.	5	Q969M2	CXA10_HUMAN	K	5	ENSP00000358358:N5K	ENSP00000358358:N5K	N	+	3	2	GJA10	90660923	0.305000	0.24481	0.940000	0.37924	0.997000	0.91878	-0.085000	0.11250	-0.258000	0.09446	0.563000	0.77884	AAC	.		0.433	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		G	90604202	C	G	90604202	3	3	24	1	0	0	0	0	1	0	0	0	6427	564	20	5	17	5	GJA10	6	90604202	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	154241	90604202	80510865	319	3466											
PRDM13	59336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	100062584	100062584	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:100062584A>G	ENST00000369215.4	+	4	2378	c.2073A>G	c.(2071-2073)acA>acG	p.T691T		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	691					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|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;0.0598)		TCTGCTTCACAGACGACCAGA	0.692																																					p.T691T		.											.	.	.	0			c.A2073G						.						30	33	32					6																	100062584		1678	3740	5418	SO:0001819	synonymous_variant	59336	exon4			CTTCACAGACGAC	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2073A>G	6.37:g.100062584A>G		14	0		11	6	NM_021620	Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	CCDS43487.1																																																																																			.		0.692	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			G	100062584	A	G	100062584	2	3	24	1	0	0	0	0	0	0	0	1	12496	175	7	4		4	PRDM13	6	100062584	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	9458382	100062584	71052483	320	3467											
ASCC3	10973	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	101100758	101100758	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:101100758G>C	ENST00000369162.2	-	18	3175	c.2831C>G	c.(2830-2832)cCa>cGa	p.P944R		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	944					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)		TCTTAATGTTGGGTCAATCTA	0.323																																					p.P944R		.											.	.	.	0			c.C2831G						.						68	65	66					6																	101100758		2202	4300	6502	SO:0001583	missense	10973	exon18			AATGTTGGGTCAA	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.2831C>G	6.37:g.101100758G>C	ENSP00000358159:p.Pro944Arg	128	0		89	5	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271521	0.80469	.	.	ENSG00000112249	ENST00000369162	T	0.59083	0.29	5.68	4.79	0.61399	.	0.109417	0.64402	N	0.000005	T	0.67135	0.2861	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.72683	-0.4219	10	0.66056	D	0.02	.	16.7566	0.85501	0.0:0.1293:0.8707:0.0	.	944	Q8N3C0	HELC1_HUMAN	R	944	ENSP00000358159:P944R	ENSP00000358159:P944R	P	-	2	0	ASCC3	101207479	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.856000	0.86956	1.476000	0.48215	0.591000	0.81541	CCA	.		0.323	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		C	101100758	G	C	101100758	3	2	24	1	0	0	0	0	1	0	0	0	1034	1348	47	5	3877	5	ASCC3	6	101100758	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1038174	101100758	70014309	321	3468											
AIM1	202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	107006479	107006479	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:107006479C>T	ENST00000369066.3	+	16	5097	c.4610C>T	c.(4609-4611)tCt>tTt	p.S1537F	AIM1_ENST00000535438.1_Missense_Mutation_p.S356F	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)		CAAATACGCTCTGTTCAGGTT	0.388																																					p.S1537F		.											.	.	.	0			c.C4610T						.						115	101	106					6																	107006479		2203	4300	6503	SO:0001583	missense	202	exon16			TACGCTCTGTTCA	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.4610C>T	6.37:g.107006479C>T	ENSP00000358062:p.Ser1537Phe	45	0		40	10	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228946	0.79688	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	D;D	0.93426	-3.22;-3.22	5.81	5.81	0.92471	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98821	1.0747	10	0.87932	D	0	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	356;1537	B4DU04;Q9Y4K1	.;AIM1_HUMAN	F	1537;356	ENSP00000358062:S1537F;ENSP00000439183:S356F	ENSP00000358062:S1537F	S	+	2	0	AIM1	107113172	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	6.602000	0.74141	2.746000	0.94184	0.655000	0.94253	TCT	.		0.388	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	107006479	C	T	107006479	3	4	24	1	0	0	0	0	1	0	0	0	430	913	32	3	4672	3	AIM1	6	107006479	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5905721	107006479	64108588	322	3469											
SLC16A10	117247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	111498823	111498823	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:111498823A>C	ENST00000368851.5	+	3	1072	c.897A>C	c.(895-897)ggA>ggC	p.G299G	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	299					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)	GGGCAGTTGGAATACCACTTG	0.383																																					p.G299G		.											.	.	.	0			c.A897C						.						91	88	89					6																	111498823		2203	4300	6503	SO:0001819	synonymous_variant	117247	exon3			AGTTGGAATACCA	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.897A>C	6.37:g.111498823A>C		11	0		13	6	NM_018593	B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.030|9.030	0.987111|0.987111	0.18889|0.18889	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000419619;ENST00000439288|ENST00000535637	.|.	.|.	.|.	5.41|5.41	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.41119|0.41119	0.1145|0.1145	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33189|0.33189	-0.9878|-0.9878	4|5	.|0.39692	.|T	.|0.17	.|.	5.4609|5.4609	0.16615|0.16615	0.5966:0.1362:0.2671:0.0|0.5966:0.1362:0.2671:0.0	.|.	.|.	.|.	.|.	A|H	185|299	.|.	.|ENSP00000439389:N299H	E|N	+|+	2|1	0|0	SLC16A10|SLC16A10	111605516|111605516	0.781000|0.781000	0.28676|0.28676	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.001000|0.001000	0.13038|0.13038	0.357000|0.357000	0.24183|0.24183	0.460000|0.460000	0.39030|0.39030	GAA|AAT	.		0.383	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			C	111498823	A	C	111498823	2	2	24	1	0	0	0	0	0	0	0	1	14448	233	9	4		4	SLC16A10	6	111498823	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4492344	111498823	59616244	323	3470											
VNN1	8876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	133014343	133014343	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:133014343A>C	ENST00000367928.4	-	4	659	c.646T>G	c.(646-648)Ttc>Gtc	p.F216V		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	216	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				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)		GGATCATGGAAGAGTATATCA	0.413																																					p.F216V		.											.	.	.	0			c.T646G						.						115	104	108					6																	133014343		2203	4300	6503	SO:0001583	missense	8876	exon4			CATGGAAGAGTAT	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.646T>G	6.37:g.133014343A>C	ENSP00000356905:p.Phe216Val	82	0		103	29	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628369	0.87560	.	.	ENSG00000112299	ENST00000367928	D	0.89617	-2.54	6.07	6.07	0.98685	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.063751	0.64402	D	0.000003	D	0.95802	0.8634	H	0.95850	3.73	0.58432	D	0.999997	D	0.53885	0.963	D	0.64321	0.924	D	0.96936	0.9684	10	0.87932	D	0	-29.5065	16.6288	0.85011	1.0:0.0:0.0:0.0	.	216	O95497	VNN1_HUMAN	V	216	ENSP00000356905:F216V	ENSP00000356905:F216V	F	-	1	0	VNN1	133056036	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.497000	0.81536	2.326000	0.78906	0.533000	0.62120	TTC	.		0.413	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			C	133014343	A	C	133014343	3	2	24	1	0	0	0	0	1	0	0	0	17231	72	3	4	911	4	VNN1	6	133014343	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	21515520	133014343	38100724	324	3471											
VNN1	8876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	133034964	133034964	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:133034964C>T	ENST00000367928.4	-	1	224		c.e1+1			NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1						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)		AGAGATGGTACCTGATCTGCT	0.488																																					.		.											.	.	.	0			c.210+1G>A						.						160	137	145					6																	133034964		2203	4300	6503	SO:0001630	splice_region_variant	8876	exon2			ATGGTACCTGATC	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.210+1G>A	6.37:g.133034964C>T		58	0		35	13	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Splice_Site	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025700	0.35701	.	.	ENSG00000112299	ENST00000367928	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5078	0.87750	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VNN1	133076657	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	3.555000	0.53727	2.434000	0.82447	0.555000	0.69702	.	.		0.488	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		Intron	T	133034964	C	T	133034964	5	4	24	1	0	0	0	0	0	0	1	0	17231	521	18	3	1358	3	VNN1	6	133034964	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	20621	133034964	38080103	325	3472											
RPS12	6206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	133137642	133137642	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:133137642G>T	ENST00000230050.3	+	4	384	c.174G>T	c.(172-174)gaG>gaT	p.E58D	SNORA33_ENST00000363664.1_RNA|SNORD100_ENST00000408573.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	58					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 small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		ACTGTGATGAGCCTATGTATG	0.423																																					p.E58D		.											.	.	.	0			c.G174T						.						145	139	141					6																	133137642		2203	4298	6501	SO:0001583	missense	6206	exon4			TGATGAGCCTATG	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"S ribosomal proteins"	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.174G>T	6.37:g.133137642G>T	ENSP00000230050:p.Glu58Asp	36	0		19	9	NM_001016	Q76M58	Missense_Mutation	SNP	ENST00000230050.3	37	CCDS5164.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793497	0.70452	.	.	ENSG00000112306	ENST00000230050	T	0.59502	0.26	5.91	2.73	0.32206	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.045134	0.85682	D	0.000000	T	0.57710	0.2072	M	0.82823	2.61	0.80722	D	1	P	0.43938	0.822	P	0.51079	0.658	T	0.61850	-0.6978	10	0.48119	T	0.1	-21.7349	10.7172	0.46019	0.2701:0.0:0.7299:0.0	.	58	P25398	RS12_HUMAN	D	58	ENSP00000230050:E58D	ENSP00000230050:E58D	E	+	3	2	RPS12	133179335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.790000	0.33803	0.655000	0.94253	GAG	.		0.423	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		T	133137642	G	T	133137642	3	4	24	1	0	0	0	0	1	0	0	0	13667	962	34	3	184	3	RPS12	6	133137642	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	102678	133137642	37977425	326	3473											
HBS1L	10767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	135358028	135358028	+	Intron	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:135358028T>G	ENST00000367837.5	-	4	637				HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.K523Q|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000367824.4_Intron|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)		TTCCCTAGCTTTGAACTTAGA	0.388																																					p.K523Q		.											.	.	.	0			c.A1567C						.						41	38	39					6																	135358028		692	1591	2283	SO:0001627	intron_variant	10767	exon5			CTAGCTTTGAACT	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+2682A>C	6.37:g.135358028T>G		111	0		70	15	NM_001145207	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	9.944	1.218310	0.22373	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.32	4.16	0.48862	.	.	.	.	.	T	0.56140	0.1965	.	.	.	0.80722	D	1	D	0.56746	0.977	P	0.56648	0.803	T	0.61964	-0.6954	7	0.59425	D	0.04	.	7.775	0.29033	0.0:0.1536:0.0:0.8464	.	523	Q9Y450-2	.	Q	523	.	ENSP00000356796:K523Q	K	-	1	0	HBS1L	135399721	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	2.644000	0.46613	2.139000	0.66308	0.533000	0.62120	AAG	.		0.388	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			G	135358028	T	G	135358028	1	3	24	0	1	0	0	0	0	0	0	0	7014	1850	64	4		4	HBS1L	6	135358028	Intron	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2220386	135358028	35757039	327	3474											
BCLAF1	9774	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	136597516	136597516	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:136597516A>G	ENST00000531224.1	-	5	1399	c.1147T>C	c.(1147-1149)Tac>Cac	p.Y383H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.Y381H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Y381H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Y381H|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Y383H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	383					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)		TCACTGAAGTAATCTAGAGCT	0.433																																					p.Y383H	Colon(142;1534 1789 5427 7063 28491)	.											.	.	.	0			c.T1147C						.						253	271	265					6																	136597516		2203	4299	6502	SO:0001583	missense	9774	exon5			TGAAGTAATCTAG	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.1147T>C	6.37:g.136597516A>G	ENSP00000435210:p.Tyr383His	210	0		149	31	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591436	0.46214	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	5.53	5.53	0.82687	.	0.105052	0.42964	D	0.000627	T	0.07098	0.0180	L	0.36672	1.1	0.80722	D	1	P;P;P	0.41848	0.763;0.763;0.763	B;B;B	0.41088	0.347;0.347;0.347	T	0.30995	-0.9959	10	0.25751	T	0.34	-6.0971	15.9539	0.79865	1.0:0.0:0.0:0.0	.	381;381;383	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	H	383;381;383;381;381;383	ENSP00000435210:Y383H;ENSP00000229446:Y381H;ENSP00000435441:Y383H;ENSP00000434826:Y381H;ENSP00000376159:Y381H;ENSP00000431734:Y383H	ENSP00000229446:Y381H	Y	-	1	0	BCLAF1	136639209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.178000	0.77657	2.240000	0.73641	0.528000	0.53228	TAC	.		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		G	136597516	A	G	136597516	3	3	24	1	0	0	0	0	1	0	0	0	1384	362	13	4	1651	4	BCLAF1	6	136597516	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1239488	136597516	34517551	328	3475											
UTRN	7402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	144744760	144744760	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:144744760A>T	ENST00000367545.3	+	4	310	c.310A>T	c.(310-312)Aat>Tat	p.N104Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	104	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		ACATCAGAACAATGTAAGTGT	0.418																																					p.N104Y		.											.	.	.	0			c.A310T						.						182	162	169					6																	144744760		2203	4300	6503	SO:0001583	missense	7402	exon4			CAGAACAATGTAA	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.310A>T	6.37:g.144744760A>T	ENSP00000356515:p.Asn104Tyr	40	0		21	15	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852217	0.71719	.	.	ENSG00000152818	ENST00000367529;ENST00000367545;ENST00000421035	D;D	0.95447	-3.71;-3.71	5.61	5.61	0.85477	Calponin homology domain (5);	0.000000	0.53938	D	0.000055	D	0.97498	0.9181	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	P	0.62885	0.908	D	0.98104	1.0416	10	0.66056	D	0.02	.	15.8165	0.78604	1.0:0.0:0.0:0.0	.	104	P46939	UTRO_HUMAN	Y	104;104;109	ENSP00000356515:N104Y;ENSP00000396276:N109Y	ENSP00000356499:N104Y	N	+	1	0	UTRN	144786453	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	6.487000	0.73633	2.143000	0.66587	0.455000	0.32223	AAT	.		0.418	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	144744760	A	T	144744760	3	4	24	1	0	0	0	0	1	0	0	0	17152	130	5	5	324	5	UTRN	6	144744760	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8147244	144744760	26370307	329	3476											
ZC3H12D	340152	broad.mit.edu	37	6	149772005	149772005	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:149772005T>C	ENST00000409806.3	-	6	1716	c.1398A>G	c.(1396-1398)tcA>tcG	p.S466S	ZC3H12D_ENST00000389942.5_Silent_p.S466S|ZC3H12D_ENST00000498662.1_5'Flank|ZC3H12D_ENST00000416573.2_3'UTR			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	466					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)		TCGCGTACACTGAAAGTCCCC	0.751																																					p.S466S													.	ZC3H12D	21	0			c.A1398G						.						7	14	12					6																	149772005		677	1576	2253	SO:0001819	synonymous_variant	340152	exon6			GTACACTGAAAGT			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.1398A>G	6.37:g.149772005T>C		12	0		9	4	NM_207360	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Silent	SNP	ENST00000409806.3	37																																																																																				.		0.751	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		C	149772005	T	C	149772005	2	2	24	1	0	0	0	0	0	0	0	1	17612	1567	55	4		4	ZC3H12D	6	149772005	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5027245	149772005	21343062	330	3477											
C6orf97	80129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	151869440	151869440	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:151869440T>G	ENST00000239374.7	+	5	689	c.590T>G	c.(589-591)cTt>cGt	p.L197R	CCDC170_ENST00000367290.5_Splice_Site_p.L197R	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	197																	TCTCTTCAGCTTAGAGACCTG	0.333																																					p.L197R		.											.	.	.	0			c.T590G						.						51	47	48					6																	151869440		1828	4079	5907	SO:0001630	splice_region_variant	80129	exon5			TTCAGCTTAGAGA	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.589-1T>G	6.37:g.151869440T>G		91	0		91	44	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091488	0.76756	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09163	3.01;3.01	5.48	5.48	0.80851	.	0.071637	0.53938	D	0.000046	T	0.15478	0.0373	M	0.63428	1.95	0.38628	D	0.95131	D	0.55605	0.972	P	0.53988	0.739	T	0.00735	-1.1588	10	0.72032	D	0.01	-3.179	15.5654	0.76287	0.0:0.0:0.0:1.0	.	197	Q8IYT3	CF097_HUMAN	R	197	ENSP00000239374:L197R;ENSP00000356259:L197R	ENSP00000239374:L197R	L	+	2	0	C6orf97	151911133	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	3.933000	0.56545	2.075000	0.62263	0.477000	0.44152	CTT	.		0.333	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	Missense_Mutation	G	151869440	T	G	151869440	5	3	24	1	0	0	0	0	0	0	1	0	2381	1623	56	4	608	4	C6orf97	6	151869440	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2097435	151869440	19245627	331	3478											
FBXO5	26271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	153296425	153296425	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:153296425A>G	ENST00000229758.3	-	2	493	c.435T>C	c.(433-435)agT>agC	p.S145S	FBXO5_ENST00000367241.3_Silent_p.S99S|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	145	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AGGAATAGCCACTGTCTTCAT	0.428																																					p.S145S	NSCLC(121;372 1757 17721 17977 29669)	.											.	.	.	0			c.T435C						.						169	170	170					6																	153296425		2203	4300	6503	SO:0001819	synonymous_variant	26271	exon2			ATAGCCACTGTCT	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.435T>C	6.37:g.153296425A>G		52	0		39	20	NM_012177	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Silent	SNP	ENST00000229758.3	37	CCDS5242.1																																																																																			.		0.428	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			G	153296425	A	G	153296425	2	3	24	1	0	0	0	0	0	0	0	1	5780	156	6	4		4	FBXO5	6	153296425	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1426985	153296425	17818642	332	3479											
FBXO5	26271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	153296461	153296461	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:153296461T>C	ENST00000229758.3	-	2	457	c.399A>G	c.(397-399)atA>atG	p.I133M	FBXO5_ENST00000367241.3_Missense_Mutation_p.I87M|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I133M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTAGTGCTTCTATTTCATTTG	0.413																																					p.I133M	NSCLC(121;372 1757 17721 17977 29669)	.											FBXO5,mouth,carcinoma,0,1	FBXO5	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.A399G						.						189	185	187					6																	153296461		2203	4300	6503	SO:0001583	missense	26271	exon2			TGCTTCTATTTCA	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.399A>G	6.37:g.153296461T>C	ENSP00000229758:p.Ile133Met	60	0		40	11	NM_012177	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	1.683	-0.506083	0.04231	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.36878	1.23;1.23	5.4	1.59	0.23543	.	0.806942	0.11865	N	0.522005	T	0.10423	0.0255	L	0.35414	1.06	0.09310	N	0.999999	B	0.19817	0.039	B	0.19148	0.024	T	0.30357	-0.9981	10	0.41790	T	0.15	-0.7707	7.0706	0.25177	0.0:0.2103:0.1265:0.6631	.	133	Q9UKT4	FBX5_HUMAN	M	133;87	ENSP00000229758:I133M;ENSP00000356210:I87M	ENSP00000229758:I133M	I	-	3	3	FBXO5	153338154	0.037000	0.19845	0.627000	0.29227	0.150000	0.21749	0.068000	0.14531	0.477000	0.27464	0.533000	0.62120	ATA	.		0.413	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			C	153296461	T	C	153296461	3	2	24	1	0	0	0	0	1	0	0	0	5780	1512	53	4	960	4	FBXO5	6	153296461	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	36	153296461	17818606	333	3480											
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	157505453	157505453	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:157505453A>G	ENST00000350026.5	+	12	3396	c.3395A>G	c.(3394-3396)tAt>tGt	p.Y1132C	ARID1B_ENST00000346085.5_Missense_Mutation_p.Y1145C|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y1185C|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y1127C	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1132	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)		AAAAAGCAGTATATTCAGTAC	0.517																																					p.Y1145C		.											.	.	.	0			c.A3434G						.						89	85	87					6																	157505453		2203	4296	6499	SO:0001583	missense	57492	exon13			AGCAGTATATTCA	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.3395A>G	6.37:g.157505453A>G	ENSP00000055163:p.Tyr1132Cys	81	0		80	25	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632531	0.87660	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.91	5.91	0.95273	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	M	0.92923	3.36	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	0.92131	0.5712	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	382;1132;1145;1127	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	C	1145;1132;1185;1127;602;654;607;199	ENSP00000344546:Y1145C;ENSP00000055163:Y1132C;ENSP00000356116:Y1185C;ENSP00000275248:Y1127C;ENSP00000412835:Y654C;ENSP00000313006:Y607C;ENSP00000383596:Y199C	ENSP00000275248:Y1127C	Y	+	2	0	ARID1B	157547145	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.329000	0.96413	2.254000	0.74563	0.533000	0.62120	TAT	.		0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		G	157505453	A	G	157505453	3	3	24	1	0	0	0	0	1	0	0	0	914	449	16	4	3484	4	ARID1B	6	157505453	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4208992	157505453	13609614	334	3481											
EZR	7430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	159208198	159208198	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:159208198A>C	ENST00000367075.3	-	4	302	c.134T>G	c.(133-135)tTt>tGt	p.F45C	EZR_ENST00000392177.4_Intron|EZR_ENST00000337147.7_Missense_Mutation_p.F45C|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	45	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		GTGGAGGCCAAAGTACCACAC	0.468			T	ROS1	NSCLC																																p.F45C		.		Dom	yes		6	6q25.3	7430	ezrin		E	.	.	.	0			c.T134G						.						133	122	126					6																	159208198		2203	4300	6503	SO:0001583	missense	7430	exon3			AGGCCAAAGTACC	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.134T>G	6.37:g.159208198A>C	ENSP00000356042:p.Phe45Cys	43	0		33	20	NM_003379	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286577	0.80803	.	.	ENSG00000092820	ENST00000337147;ENST00000367075	D;D	0.87256	-2.23;-2.23	5.12	5.12	0.69794	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96595	0.9440	10	0.87932	D	0	.	10.9219	0.47169	0.8598:0.0:0.0:0.1402	.	45	P15311	EZRI_HUMAN	C	45	ENSP00000338934:F45C;ENSP00000356042:F45C	ENSP00000338934:F45C	F	-	2	0	EZR	159128186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.076000	0.76806	2.139000	0.66308	0.533000	0.62120	TTT	.		0.468	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		C	159208198	A	C	159208198	3	2	24	1	0	0	0	0	1	0	0	0	5351	14	1	4	1670	4	EZR	6	159208198	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1702745	159208198	11906869	335	3482											
IGF2R	3482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	160511104	160511104	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:160511104A>C	ENST00000356956.1	+	44	6772	c.6624A>C	c.(6622-6624)ggA>ggC	p.G2208G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2208					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)	GGAAAGTTGGAACCTCTGACA	0.478																																					p.G2208G		.											.	.	.	0			c.A6624C						.						74	68	70					6																	160511104		2203	4300	6503	SO:0001819	synonymous_variant	3482	exon44			AGTTGGAACCTCT	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.6624A>C	6.37:g.160511104A>C		80	0		68	18	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																			.		0.478	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		C	160511104	A	C	160511104	2	2	24	1	0	0	0	0	0	0	0	1	7603	233	9	4		4	IGF2R	6	160511104	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1302906	160511104	10603963	336	3483											
UNC93A	54346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	167717430	167717430	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:167717430A>G	ENST00000230256.3	+	5	824	c.649A>G	c.(649-651)Atg>Gtg	p.M217V	UNC93A_ENST00000366829.2_Missense_Mutation_p.M175V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	217						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)		GGCTGTCCTGATGATAGCTGC	0.507																																					p.M217V		.											.	.	.	0			c.A649G						.						145	127	133					6																	167717430		2203	4300	6503	SO:0001583	missense	54346	exon5			GTCCTGATGATAG	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.649A>G	6.37:g.167717430A>G	ENSP00000230256:p.Met217Val	69	0		88	28	NM_018974	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	A	3.707	-0.060415	0.07317	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.79653	-1.24;-1.29	4.58	1.65	0.23941	Major facilitator superfamily domain, general substrate transporter (1);	0.222050	0.38326	N	0.001738	T	0.34571	0.0902	N	0.04203	-0.255	0.24154	N	0.995686	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34976	-0.9807	10	0.32370	T	0.25	-20.7848	6.6272	0.22837	0.1466:0.6908:0.0:0.1626	.	175;217	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	V	217;175	ENSP00000230256:M217V;ENSP00000355794:M175V	ENSP00000230256:M217V	M	+	1	0	UNC93A	167637420	0.997000	0.39634	0.304000	0.25085	0.004000	0.04260	1.650000	0.37292	0.323000	0.23307	-0.648000	0.03929	ATG	.		0.507	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		G	167717430	A	G	167717430	3	3	24	1	0	0	0	0	1	0	0	0	17045	333	12	4	667	4	UNC93A	6	167717430	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7206326	167717430	3397637	337	3484											
MLLT4	4301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	168307886	168307886	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:168307886T>C	ENST00000447894.2	+	13	1686	c.1686T>C	c.(1684-1686)tcT>tcC	p.S562S	MLLT4_ENST00000392112.1_Silent_p.S546S|MLLT4_ENST00000344191.4_Silent_p.S562S|MLLT4_ENST00000366806.2_Silent_p.S562S|MLLT4_ENST00000392108.3_Silent_p.S562S|MLLT4_ENST00000400822.3_Silent_p.S561S|MLLT4_ENST00000351017.4_Silent_p.S562S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	562					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)		GAGTGTCGTCTGCCTCTAGCA	0.522			T	MLL	AL																																p.S562S		.		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	.	.	0			c.T1686C						.						122	115	117					6																	168307886		2203	4300	6503	SO:0001819	synonymous_variant	4301	exon13			GTCGTCTGCCTCT	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.1686T>C	6.37:g.168307886T>C		39	0		23	9	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	T	3.092	-0.186769	0.06340	.	.	ENSG00000130396	ENST00000423229	.	.	.	5.14	-9.41	0.00613	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45483	-0.9258	4	.	.	.	-2.1552	0.5994	0.00742	0.2426:0.2955:0.1814:0.2805	.	.	.	.	R	261	.	.	C	+	1	0	MLLT4	168050735	0.001000	0.12720	0.017000	0.16124	0.274000	0.26718	-1.741000	0.01837	-1.120000	0.02953	-0.280000	0.10049	TGC	.		0.522	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168307886	T	C	168307886	2	2	24	1	0	0	0	0	0	0	0	1	9667	1567	55	4		4	MLLT4	6	168307886	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	590456	168307886	2807181	338	3485											
MLLT4	4301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	168348587	168348587	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:168348587A>C	ENST00000447894.2	+	27	3587	c.3587A>C	c.(3586-3588)aAg>aCg	p.K1196T	MLLT4_ENST00000392112.1_Missense_Mutation_p.K1179T|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1196T|MLLT4_ENST00000366806.2_Missense_Mutation_p.K1196T|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1196T|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1195T|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1203T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1196					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)		ACAACAGCGAAGATAACATCT	0.433			T	MLL	AL																																p.K1196T		.		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	MLLT4_ENST00000392108,NS,carcinoma,0,3	MLLT4_ENST00000392108	0	0			c.A3587C						.						97	87	90					6																	168348587		2203	4300	6503	SO:0001583	missense	4301	exon27			CAGCGAAGATAAC	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.3587A>C	6.37:g.168348587A>C	ENSP00000404595:p.Lys1196Thr	37	0		19	9	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	A	19.79	3.893151	0.72524	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05382	3.68;3.55;3.66;3.65;3.45;3.56;3.55	5.88	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.73962	2.25	0.53688	D	0.999975	P;D;D;D	0.89917	0.7;1.0;0.997;0.99	B;D;P;P	0.91635	0.132;0.999;0.899;0.855	T	0.01776	-1.1276	10	0.35671	T	0.21	-3.5762	11.9508	0.52954	0.9324:0.0:0.0676:0.0	.	1196;1195;1196;1180	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	T	1196;1203;1196;1196;1179;1196;1195;1196	ENSP00000341118:K1196T;ENSP00000252692:K1203T;ENSP00000375956:K1196T;ENSP00000355771:K1196T;ENSP00000375960:K1179T;ENSP00000383623:K1195T;ENSP00000404595:K1196T	ENSP00000345834:K1196T	K	+	2	0	MLLT4	168091436	1.000000	0.71417	0.967000	0.41034	0.933000	0.57130	5.451000	0.66632	1.045000	0.40225	0.533000	0.62120	AAG	.		0.433	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		C	168348587	A	C	168348587	3	2	24	1	0	0	0	0	1	0	0	0	9667	72	3	4	3693	4	MLLT4	6	168348587	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	40701	168348587	2766480	339	3486											
DLL1	28514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	170597586	170597586	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr6:170597586T>G	ENST00000366756.3	-	4	746		c.e4-2		FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)						cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGGGTTTTCTACGGGGAGAA	0.642																																					.		.											.	.	.	0			c.413-2A>C						.						30	32	31					6																	170597586		2203	4300	6503	SO:0001630	splice_region_variant	28514	exon5			GTTTTCTACGGGG	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.413-2A>C	6.37:g.170597586T>G		33	0		28	11	NM_005618	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Splice_Site	SNP	ENST00000366756.3	37	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.697211	0.30142	.	.	ENSG00000198719	ENST00000366756	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9523	0.64126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLL1	170439511	1.000000	0.71417	0.885000	0.34714	0.034000	0.12701	7.442000	0.80503	1.885000	0.54596	0.456000	0.33151	.	.		0.642	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		Intron	G	170597586	T	G	170597586	5	3	24	1	0	0	0	0	0	0	1	0	4580	1536	53	4	1792	4	DLL1	6	170597586	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2248999	170597586	517481	340	3487											
ZFAND2A	90637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	1197813	1197813	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:1197813T>G	ENST00000316495.3	-	2	295	c.36A>C	c.(34-36)gaA>gaC	p.E12D	ZFAND2A_ENST00000401903.1_Missense_Mutation_p.E12D|AC091729.9_ENST00000413706.1_RNA|AC091729.9_ENST00000423008.1_RNA|ZFAND2A_ENST00000478137.1_5'Flank|AC091729.9_ENST00000422230.1_RNA	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	12					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TGCAAGTCTTTTCTGAACAAT	0.398																																					p.E12D		.											.	.	.	0			c.A36C						.						250	267	261					7																	1197813		2203	4300	6503	SO:0001583	missense	90637	exon2			AGTCTTTTCTGAA	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"Zinc fingers, AN1-type domain containing"	28073	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein"	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.36A>C	7.37:g.1197813T>G	ENSP00000314619:p.Glu12Asp	49	0		21	7	NM_182491	A4D220	Missense_Mutation	SNP	ENST00000316495.3	37	CCDS5323.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.864386	0.71949	.	.	ENSG00000178381	ENST00000401903;ENST00000397083;ENST00000316495	T;T;T	0.43688	0.94;0.94;0.94	5.21	1.56	0.23342	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.82923	2.615	0.54753	D	0.999983	D;D	0.63880	0.971;0.993	P;P	0.62089	0.898;0.842	T	0.54576	-0.8273	10	0.48119	T	0.1	-37.7492	7.3881	0.26895	0.0:0.3605:0.0:0.6395	.	12;12	A8MYA3;Q8N6M9	.;ZFN2A_HUMAN	D	12	ENSP00000386031:E12D;ENSP00000380273:E12D;ENSP00000314619:E12D	ENSP00000314619:E12D	E	-	3	2	ZFAND2A	1164339	0.978000	0.34361	0.893000	0.35052	0.995000	0.86356	0.462000	0.21956	0.034000	0.15491	0.533000	0.62120	GAA	.		0.398	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		G	1197813	T	G	1197813	3	3	24	1	0	0	0	0	1	0	0	0	17675	1838	64	4	417	4	ZFAND2A	7	1197813	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09		1197813	157940850	341	3488											
TMEM184A	202915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	1587391	1587391	+	Silent	SNP	C	C	T	rs548246825		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:1587391C>T	ENST00000297477.5	-	8	1315	c.999G>A	c.(997-999)aaG>aaA	p.K333K	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	333					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)		GTGAATTCTCCTTCTTCTCTG	0.637																																					p.K333K		.											.	.	.	0			c.G999A						.						48	56	54					7																	1587391		2131	4258	6389	SO:0001819	synonymous_variant	202915	exon8			ATTCTCCTTCTTC		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.999G>A	7.37:g.1587391C>T		80	0		48	23	NM_001097620	Q8TBQ6	Silent	SNP	ENST00000297477.5	37	CCDS43537.1																																																																																			.		0.637	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		T	1587391	C	T	1587391	2	4	24	1	0	0	0	0	0	0	0	1	16151	680	24	3		3	TMEM184A	7	1587391	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	389578	1587391	157551272	342	3489											
CARD11	84433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	2977638	2977638	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:2977638A>G	ENST00000396946.4	-	8	1449	c.1046T>C	c.(1045-1047)cTc>cCc	p.L349P		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	349					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)		CGAGCACTTGAGCTCCAGGTC	0.542			Mis		DLBCL																																p.L349P		.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	.	.	0			c.T1046C						.						157	133	141					7																	2977638		2203	4300	6503	SO:0001583	missense	84433	exon8			CACTTGAGCTCCA	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.1046T>C	7.37:g.2977638A>G	ENSP00000380150:p.Leu349Pro	33	0		14	4	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246676	0.80024	.	.	ENSG00000198286	ENST00000396946	T	0.37058	1.22	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000004	T	0.51483	0.1677	L	0.52364	1.645	0.80722	D	1	D	0.61080	0.989	D	0.63703	0.917	T	0.53885	-0.8375	10	0.66056	D	0.02	-26.5461	13.8813	0.63684	1.0:0.0:0.0:0.0	.	349	Q9BXL7	CAR11_HUMAN	P	349	ENSP00000380150:L349P	ENSP00000380150:L349P	L	-	2	0	CARD11	2944164	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.048000	0.93830	1.878000	0.54408	0.482000	0.46254	CTC	.		0.542	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		G	2977638	A	G	2977638	3	3	24	1	0	0	0	0	1	0	0	0	2652	304	11	4	2490	4	CARD11	7	2977638	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1390247	2977638	156161025	343	3490											
FSCN1	6624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	5632703	5632703	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:5632703T>C	ENST00000382361.3	+	1	250	c.136T>C	c.(136-138)Tgg>Cgg	p.W46R	FSCN1_ENST00000340250.6_Intron	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	46					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)		GAAGCAGATCTGGACGCTGGA	0.672																																					p.W46R		.											.	.	.	0			c.T136C						.						12	11	11					7																	5632703		2167	4252	6419	SO:0001583	missense	6624	exon1			CAGATCTGGACGC	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.136T>C	7.37:g.5632703T>C	ENSP00000371798:p.Trp46Arg	53	0		35	14	NM_003088	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599844	0.46318	.	.	ENSG00000075618	ENST00000382361	T	0.31510	1.49	3.37	3.37	0.38596	Fascin domain (1);Actin cross-linking (1);	0.074988	0.64402	D	0.000019	T	0.59878	0.2226	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67007	-0.5779	10	0.87932	D	0	-3.9623	9.7912	0.40706	0.0:0.0:0.0:1.0	.	46	Q16658	FSCN1_HUMAN	R	46	ENSP00000371798:W46R	ENSP00000371798:W46R	W	+	1	0	FSCN1	5599229	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	5.631000	0.67812	1.413000	0.46997	0.379000	0.24179	TGG	.		0.672	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		C	5632703	T	C	5632703	3	2	24	1	0	0	0	0	1	0	0	0	6091	1580	55	4	138	4	FSCN1	7	5632703	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2655065	5632703	153505960	344	3491											
COL28A1	340267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	7476074	7476074	+	Silent	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:7476074C>G	ENST00000399429.3	-	23	1952	c.1812G>C	c.(1810-1812)ggG>ggC	p.G604G		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	604					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.G604G(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)		ATCCAGGTATCCCAGGTCCTC	0.393																																					p.G604G		.											COL28A1,NS,carcinoma,0,1	COL28A1	0	1	Substitution - coding silent(1)	lung(1)	c.G1812C						.						126	121	123					7																	7476074		1851	4102	5953	SO:0001819	synonymous_variant	340267	exon23			AGGTATCCCAGGT	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.1812G>C	7.37:g.7476074C>G		90	0		69	29	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	CCDS43553.1																																																																																			.		0.393	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		G	7476074	C	G	7476074	2	3	24	1	0	0	0	0	0	0	0	1	3693	842	30	5		5	COL28A1	7	7476074	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1843371	7476074	151662589	345	3492											
THSD7A	221981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	11419301	11419301	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:11419301A>T	ENST00000423059.4	-	25	4797	c.4546T>A	c.(4546-4548)Tct>Act	p.S1516T	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1516					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)		GGGTTACAAGACCTGTCGGCA	0.473										HNSCC(18;0.044)																											p.S1516T		.											.	.	.	0			c.T4546A						.						78	78	78					7																	11419301		2009	4163	6172	SO:0001583	missense	221981	exon24			TACAAGACCTGTC		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.4546T>A	7.37:g.11419301A>T	ENSP00000406482:p.Ser1516Thr	70	0		48	20	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263885	0.80358	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59224	0.28	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.55605	0.972;0.972	P;P	0.55455	0.694;0.776	T	0.60105	-0.7328	10	0.16420	T	0.52	.	16.017	0.80445	1.0:0.0:0.0:0.0	.	1516;1516	Q9UPZ6;C9JL67	THS7A_HUMAN;.	T	1516	ENSP00000406482:S1516T	ENSP00000262042:S1516T	S	-	1	0	THSD7A	11385826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.555000	0.90693	2.182000	0.69389	0.455000	0.32223	TCT	.		0.473	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		T	11419301	A	T	11419301	3	4	24	1	0	0	0	0	1	0	0	0	15926	275	10	5	443	5	THSD7A	7	11419301	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3943227	11419301	147719362	346	3493											
DGKB	1607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	14613961	14613961	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:14613961T>G	ENST00000403951.2	-	20	2068	c.1649A>C	c.(1648-1650)gAc>gCc	p.D550A	DGKB_ENST00000402815.1_Missense_Mutation_p.D549A|DGKB_ENST00000258767.5_Missense_Mutation_p.D550A|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.D550A|DGKB_ENST00000407950.1_Missense_Mutation_p.D542A|DGKB_ENST00000444700.2_Missense_Mutation_p.D531A|DGKB_ENST00000406247.3_Missense_Mutation_p.D550A			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	550	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)	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						GTTTTCAATGTCTTTTAGAAT	0.348																																					p.D550A		.											.	.	.	0			c.A1649C						.						189	169	175					7																	14613961		1843	4102	5945	SO:0001583	missense	1607	exon19			TCAATGTCTTTTA	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.1649A>C	7.37:g.14613961T>G	ENSP00000385780:p.Asp550Ala	49	0		31	13	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984638	0.74474	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.29	4.15	0.48705	Diacylglycerol kinase, catalytic domain (3);	0.057816	0.64402	D	0.000003	T	0.33673	0.0871	L	0.41492	1.28	0.51233	D	0.999917	D;P;P;D	0.65815	0.995;0.876;0.876;0.982	D;P;P;P	0.68483	0.958;0.757;0.757;0.883	T	0.02333	-1.1175	10	0.51188	T	0.08	.	10.7913	0.46434	0.0:0.0742:0.0:0.9258	.	549;531;550;550	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	A	550;550;550;549;542;531;550	ENSP00000385780:D550A;ENSP00000382260:D550A;ENSP00000258767:D550A;ENSP00000384909:D549A;ENSP00000385031:D542A;ENSP00000388451:D531A;ENSP00000386066:D550A	ENSP00000258767:D550A	D	-	2	0	DGKB	14580486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.294000	0.72738	0.869000	0.35703	0.459000	0.35465	GAC	.		0.348	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		G	14613961	T	G	14613961	3	3	24	1	0	0	0	0	1	0	0	0	4480	1667	58	4	808	4	DGKB	7	14613961	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3194660	14613961	144524702	347	3494											
DNAH11	8701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	21630880	21630880	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:21630880G>A	ENST00000409508.3	+	14	2383	c.2352G>A	c.(2350-2352)ctG>ctA	p.L784L	DNAH11_ENST00000328843.6_Silent_p.L784L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	784	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATACCCTCTGATTGAAGATG	0.493									Kartagener syndrome																												.		.											.	.	.	0			.						.						51	52	52					7																	21630880		1929	4131	6060	SO:0001819	synonymous_variant	8701	p.L784L	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CCCTCTGATTGAA	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2352G>A	7.37:g.21630880G>A		71	0		31	16	.	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																				.		0.493	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21630880	G	A	21630880	2	1	24	1	0	0	0	0	0	0	0	1	4613	1277	45	3		3	DNAH11	7	21630880	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	7016919	21630880	137507783	348	3495											
HOXA6	3203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	27187127	27187127	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:27187127G>C	ENST00000222728.3	-	1	266	c.242C>G	c.(241-243)tCt>tGt	p.S81C	RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	81					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|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(5)|lung(3)|ovary(1)	10						GTCCTTATCAGAATAGAAACA	0.607																																					p.S81C		.											.	.	.	0			c.C242G						.						45	46	45					7																	27187127		2203	4300	6503	SO:0001583	missense	3203	exon1			TTATCAGAATAGA		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"Homeoboxes / ANTP class : HOXL subclass"	5107	protein-coding gene	gene with protein product		142951	"homeo box A6"	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.242C>G	7.37:g.27187127G>C	ENSP00000222728:p.Ser81Cys	52	0		32	13	NM_024014	A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	g	14.64	2.596849	0.46318	.	.	ENSG00000106006	ENST00000222728	D	0.91351	-2.83	4.89	4.89	0.63831	.	0.325822	0.24771	N	0.035727	D	0.90573	0.7045	M	0.63428	1.95	0.39495	D	0.968106	P	0.47762	0.9	B	0.43783	0.431	D	0.92392	0.5922	10	0.62326	D	0.03	.	18.0742	0.89422	0.0:0.0:1.0:0.0	.	81	P31267	HXA6_HUMAN	C	81	ENSP00000222728:S81C	ENSP00000222728:S81C	S	-	2	0	HOXA6	27153652	0.845000	0.29573	1.000000	0.80357	0.998000	0.95712	1.648000	0.37271	2.243000	0.73865	0.651000	0.88453	TCT	.		0.607	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			C	27187127	G	C	27187127	3	2	24	1	0	0	0	0	1	0	0	0	7323	942	33	5	467	5	HOXA6	7	27187127	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	5556247	27187127	131951536	349	3496											
VPS41	27072	hgsc.bcm.edu	37	7	38791865	38791865	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:38791865G>T	ENST00000310301.4	-	22	1891	c.1837C>A	c.(1837-1839)Cat>Aat	p.H613N	VPS41_ENST00000395969.2_Missense_Mutation_p.H588N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	613					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						TGTTTTTCATGGTAACGCTGC	0.408																																					p.H613N		.											.	.	.	0			c.C1837A						.						199	187	191					7																	38791865		2203	4300	6503	SO:0001583	missense	27072	exon22			TTTCATGGTAACG	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.1837C>A	7.37:g.38791865G>T	ENSP00000309457:p.His613Asn	147	0		83	3	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015351	0.93404	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.18502	2.21;2.21	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.997	T	0.52139	-0.8615	10	0.36615	T	0.2	-18.7415	19.5404	0.95271	0.0:0.0:1.0:0.0	.	613;588;613	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	613;588	ENSP00000309457:H613N;ENSP00000379297:H588N	ENSP00000309457:H613N	H	-	1	0	VPS41	38758390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.787000	0.99055	2.623000	0.88846	0.585000	0.79938	CAT	.		0.408	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			T	38791865	G	T	38791865	3	4	24	1	0	0	0	0	1	0	0	0	17259	1348	47	3	759	3	VPS41	7	38791865	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	11604738	38791865	120346798	350	3497											
VPS41	27072	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	38860830	38860830	+	Frame_Shift_Del	DEL	A	A	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:38860830delA	ENST00000310301.4	-	6	411	c.357delT	c.(355-357)tttfs	p.F119fs	VPS41_ENST00000395969.2_Frame_Shift_Del_p.F94fs	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	119					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						AAGTCTCGTGAAATTCTTCTC	0.363																																					p.H120fs		.											.	.	.	0			c.358delC						.						97	101	100					7																	38860830		2203	4300	6503	SO:0001589	frameshift_variant	27072	exon6			CTCGTGAAATTCT	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.357delT	7.37:g.38860830delA	ENSP00000309457:p.Phe119fs	65	0		49	21	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Frame_Shift_Del	DEL	ENST00000310301.4	37	CCDS5457.1																																																																																			.		0.363	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			-	38860830	A	-	38860830	7	5	24	1	0	1	0	1	0	0	0	0	17259	243	9	0	2303	0	VPS41	7	38860830	Frame_Shift_Del	DEL	A	TCGA-W5-AA39-01A-11D-A417-09	68965	38860830	120277833	351	3498											
INHBA	3624	broad.mit.edu;bcgsc.ca	37	7	41729636	41729636	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:41729636C>T	ENST00000242208.4	-	3	1139	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R298Q	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	298					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|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)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|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)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTCAGACTGCCGGGCCTGCAG	0.572										TSP Lung(11;0.080)																											p.R298Q													.	INHBA	118	0			c.G893A						.						91	93	92					7																	41729636		2203	4300	6503	SO:0001583	missense	3624	exon3			GACTGCCGGGCCT		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.893G>A	7.37:g.41729636C>T	ENSP00000242208:p.Arg298Gln	39	1		15	10	NM_002192	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	14.47	2.545477	0.45280	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.79454	-1.27;-1.27	5.82	5.82	0.92795	.	0.200435	0.46442	D	0.000283	T	0.66799	0.2826	L	0.28400	0.85	0.49299	D	0.999775	P	0.42827	0.791	B	0.30401	0.115	T	0.70475	-0.4861	10	0.48119	T	0.1	-21.7563	20.0937	0.97831	0.0:1.0:0.0:0.0	.	298	P08476	INHBA_HUMAN	Q	298	ENSP00000242208:R298Q;ENSP00000397197:R298Q	ENSP00000242208:R298Q	R	-	2	0	INHBA	41696161	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.998000	0.57024	2.762000	0.94881	0.484000	0.47621	CGG	.		0.572	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			T	41729636	C	T	41729636	3	4	24	1	0	0	0	0	1	0	0	0	7768	652	23	1	391	1	INHBA	7	41729636	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2868806	41729636	117409027	352	3499											
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	48315409	48315409	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:48315409G>T	ENST00000435803.1	+	17	6170	c.6146G>T	c.(6145-6147)aGt>aTt	p.S2049I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2049					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						ATTGAAAAAAGTGAAACACCT	0.348																																					p.S2049I		.											.	.	.	0			c.G6146T						.						35	33	34					7																	48315409		1830	4082	5912	SO:0001583	missense	154664	exon17			AAAAAAGTGAAAC	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.6146G>T	7.37:g.48315409G>T	ENSP00000411096:p.Ser2049Ile	66	0		55	12	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696922	0.15106	.	.	ENSG00000179869	ENST00000435803	T	0.14893	2.47	4.44	0.188	0.15114	.	0.609366	0.15408	N	0.263931	T	0.13415	0.0325	L	0.50333	1.59	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.29610	-1.0006	9	.	.	.	.	6.5984	0.22687	0.3811:0.0:0.505:0.114	.	2049	Q86UQ4	ABCAD_HUMAN	I	2049	ENSP00000411096:S2049I	.	S	+	2	0	ABCA13	48285955	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.425000	0.07017	-0.464000	0.06963	-1.626000	0.00786	AGT	.		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48315409	G	T	48315409	3	4	24	1	0	0	0	0	1	0	0	0	31	1029	36	3	6041	3	ABCA13	7	48315409	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	6585773	48315409	110823254	353	3500											
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	48443439	48443439	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:48443439G>A	ENST00000435803.1	+	39	12057	c.12033G>A	c.(12031-12033)cgG>cgA	p.R4011R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4011	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(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						CTTGCTCCCGGCATAGCCTGT	0.557																																					p.R4011R		.											.	.	.	0			c.G12033A						.						59	59	59					7																	48443439		2011	4178	6189	SO:0001819	synonymous_variant	154664	exon39			CTCCCGGCATAGC	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.12033G>A	7.37:g.48443439G>A		50	0		36	15	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.		0.557	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48443439	G	A	48443439	2	1	24	1	0	0	0	0	0	0	0	1	31	1190	42	3		3	ABCA13	7	48443439	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	128030	48443439	110695224	354	3501											
GUSB	2990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	65425890	65425890	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:65425890A>G	ENST00000304895.4	-	12	2080	c.1950T>C	c.(1948-1950)ttT>ttC	p.F650F	GUSB_ENST00000421103.1_Silent_p.F504F|GUSB_ENST00000345660.6_Silent_p.F599F	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	650					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						TTGCTCAAGTAAACAGGCTGT	0.522																																					p.F650F		.											.	.	.	0			c.T1950C						.						219	188	199					7																	65425890		2203	4300	6503	SO:0001819	synonymous_variant	2990	exon12			TCAAGTAAACAGG	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.1950T>C	7.37:g.65425890A>G		107	0		59	30	NM_000181	B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	CCDS5530.1																																																																																			.		0.522	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		G	65425890	A	G	65425890	2	3	24	1	0	0	0	0	0	0	0	1	6929	359	13	4		4	GUSB	7	65425890	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	16982451	65425890	93712773	355	3502											
GUSB	2990	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	65425957	65425973	+	Frame_Shift_Del	DEL	TTCCAGTATCTCTCTCG	TTCCAGTATCTCTCTCG	-	rs121918184|rs372550726		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	TTCCAGTATCTCTCTCG	TTCCAGTATCTCTCTCG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:65425957_65425973delTTCCAGTATCTCTCTCG	ENST00000304895.4	-	12	1997_2013	c.1867_1883delCGAGAGAGATACTGGAA	c.(1867-1884)cgagagagatactggaagfs	p.RERYWK623fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.RERYWK477fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.RERYWK572fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	623					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						ATTGGCAATCTTCCAGTATCTCTCTCGCAAAAGGAAC	0.461																																					p.623_628del		.											GUSB,NS,carcinoma,0,1	GUSB	0	0			c.1868_1884del	GRCh37	CD962032|CM930361|CM980963	GUSB	D|M	rs121918184	.																																			SO:0001589	frameshift_variant	2990	exon12			GCAATCTTCCAGT	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.1867_1883delCGAGAGAGATACTGGAA	7.37:g.65425957_65425973delTTCCAGTATCTCTCTCG	ENSP00000302728:p.Arg623fs	113	0		47	11	NM_000181	B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	ENST00000304895.4	37	CCDS5530.1																																																																																			.		0.461	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		-	65425973	TTCCAGTATCTCTCTCG	-	65425957	7	5	24	1	0	1	0	1	0	0	0	0	6929	1609	56	0	76	0	GUSB	7	65425957	Frame_Shift_Del	DEL	TTCCAGTATCTCTCTCG	TCGA-W5-AA39-01A-11D-A417-09	67	65425957	93712706	356	3503											
RABGEF1	27342	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	66270137	66270137	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:66270137A>C	ENST00000284957.5	+	8	908	c.831A>C	c.(829-831)gaA>gaC	p.E277D	KCTD7_ENST00000380828.2_Missense_Mutation_p.E317D|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E277D|KCTD7_ENST00000451741.2_Missense_Mutation_p.E277D|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E290D|KCTD7_ENST00000510829.2_Missense_Mutation_p.E277D|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E291D			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	494					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						ATATCATTGAAATGGATTCCA	0.408																																					p.E277D													.	RABGEF1	56	0			c.A831C						.						76	68	71					7																	66270137		2203	4300	6503	SO:0001583	missense	154881	exon8			CATTGAAATGGAT	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.831A>C	7.37:g.66270137A>C	ENSP00000284957:p.Glu277Asp	59	1		36	10	NM_014504	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.039725	0.75732	.	.	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	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.49	0.46	0.16684	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	M	0.71581	2.175	0.58432	D	0.999998	P;B;P	0.46064	0.864;0.235;0.872	P;B;P	0.57620	0.618;0.278;0.824	T	0.21449	-1.0245	10	0.39692	T	0.17	-28.2779	8.7144	0.34403	0.3445:0.0:0.6555:0.0	.	291;111;494	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	D	361;317;277;277;193;277;277;290;291	ENSP00000370208:E317D;ENSP00000421124:E277D;ENSP00000398177:E277D;ENSP00000284957:E277D;ENSP00000415815:E277D;ENSP00000403429:E290D;ENSP00000390480:E291D	ENSP00000370207:E361D	E	+	3	2	RABGEF1;KCTD7	65907572	0.666000	0.27475	1.000000	0.80357	0.997000	0.91878	-0.148000	0.10219	0.087000	0.17167	0.533000	0.62120	GAA	.		0.408	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		C	66270137	A	C	66270137	3	2	24	1	0	0	0	0	1	0	0	0	13011	11	1	4	857	4	RABGEF1	7	66270137	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	844180	66270137	92868526	357	3504											
ELN	2006	hgsc.bcm.edu	37	7	73474781	73474782	+	Missense_Mutation	DNP	CT	CT	TC	rs138876104	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CT	CT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:73474781_73474782CT>TC	ENST00000252034.7	+	25	2096_2097	c.1697_1698CT>TC	c.(1696-1698)gCT>gTC	p.A566V	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000357036.5_Missense_Mutation_p.A571V|ELN_ENST00000380553.4_Missense_Mutation_p.A430V|ELN_ENST00000414324.1_Missense_Mutation_p.A542V|ELN_ENST00000380584.4_Missense_Mutation_p.A518V|ELN_ENST00000320492.7_Missense_Mutation_p.A485V|ELN_ENST00000458204.1_Missense_Mutation_p.A556V|ELN_ENST00000429192.1_Missense_Mutation_p.A552V|ELN_ENST00000445912.1_Missense_Mutation_p.A566V|ELN_ENST00000380575.4_Missense_Mutation_p.A537V|ELN_ENST00000320399.6_Missense_Mutation_p.A566V|ELN_ENST00000380562.4_Missense_Mutation_p.A572V|ELN_ENST00000380576.5_Missense_Mutation_p.A547V|ELN_ENST00000358929.4_Missense_Mutation_p.A601V	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)				GGAGTTGGTGCTGGTGTTCCTG	0.629			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																														p.A601V		.		Dom	yes		7	7q11.23	2006	elastin	yes	L	.	.	.	0			c.T1713C						.																																			SO:0001583	missense	2006	exon25			TGGTGCTGGTGTT		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	Exception_encountered	7.37:g.73474781_73474782delinsTC	ENSP00000252034:p.Ala566Val	31	0		16	4	NM_001081754	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	DNP	ENST00000252034.7	37	CCDS5562.2																																																																																			.		0.629	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		TC	73474782	CT	TC	73474781	3	4	24	1	0	0	0	0	1	0	0	0	5087	797	28	3	1810	3	ELN	7	73474781	Missense_Mutation	DNP	CT	TCGA-W5-AA39-01A-11D-A417-09	7204644	73474781	85663882	358	3505	26	3									
ELN	2006	hgsc.bcm.edu	37	7	73474785	73474785	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:73474785T>C	ENST00000252034.7	+	25	2100	c.1701T>C	c.(1699-1701)ggT>ggC	p.G567G	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000357036.5_Silent_p.G572G|ELN_ENST00000380553.4_Silent_p.G431G|ELN_ENST00000414324.1_Silent_p.G543G|ELN_ENST00000380584.4_Silent_p.G519G|ELN_ENST00000320492.7_Silent_p.G486G|ELN_ENST00000458204.1_Silent_p.G557G|ELN_ENST00000429192.1_Silent_p.G553G|ELN_ENST00000445912.1_Silent_p.G567G|ELN_ENST00000380575.4_Silent_p.G538G|ELN_ENST00000320399.6_Silent_p.G567G|ELN_ENST00000380562.4_Silent_p.G573G|ELN_ENST00000380576.5_Silent_p.G548G|ELN_ENST00000358929.4_Silent_p.G602G	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)				TTGGTGCTGGTGTTCCTGGAC	0.617			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																														p.G572G		.		Dom	yes		7	7q11.23	2006	elastin	yes	L	.	.	.	0			c.T1716C						.						347	345	346					7																	73474785		2203	4300	6503	SO:0001819	synonymous_variant	2006	exon25			TGCTGGTGTTCCT		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.1701T>C	7.37:g.73474785T>C		31	0		16	4	NM_001081754	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																			.		0.617	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		C	73474785	T	C	73474785	2	2	24	1	0	0	0	0	0	0	0	1	5087	1683	59	4		4	ELN	7	73474785	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4	73474785	85663878	359	3506	26	3									
ELN	2006	hgsc.bcm.edu	37	7	73474788	73474788	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:73474788T>C	ENST00000252034.7	+	25	2103	c.1704T>C	c.(1702-1704)gtT>gtC	p.V568V	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000357036.5_Silent_p.V573V|ELN_ENST00000380553.4_Silent_p.V432V|ELN_ENST00000414324.1_Silent_p.V544V|ELN_ENST00000380584.4_Silent_p.V520V|ELN_ENST00000320492.7_Silent_p.V487V|ELN_ENST00000458204.1_Silent_p.V558V|ELN_ENST00000429192.1_Silent_p.V554V|ELN_ENST00000445912.1_Silent_p.V568V|ELN_ENST00000380575.4_Silent_p.V539V|ELN_ENST00000320399.6_Silent_p.V568V|ELN_ENST00000380562.4_Silent_p.V574V|ELN_ENST00000380576.5_Silent_p.V549V|ELN_ENST00000358929.4_Silent_p.V603V	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)				GTGCTGGTGTTCCTGGACTTG	0.617			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																														p.V573V		.		Dom	yes		7	7q11.23	2006	elastin	yes	L	.	.	.	0			c.T1719C						.						342	341	342					7																	73474788		2203	4300	6503	SO:0001819	synonymous_variant	2006	exon25			TGGTGTTCCTGGA		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.1704T>C	7.37:g.73474788T>C		31	0		16	4	NM_001081754	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																			.		0.617	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		C	73474788	T	C	73474788	2	2	24	1	0	0	0	0	0	0	0	1	5087	1770	62	4		4	ELN	7	73474788	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3	73474788	85663875	360	3507	26	3									
RFC2	5982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	73661064	73661064	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:73661064T>G	ENST00000055077.3	-	5	422	c.362A>C	c.(361-363)aAa>aCa	p.K121T	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	121					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)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						AGCAAACATTTTAATTTTATT	0.398																																					p.K121T		.											.	.	.	0			c.A362C						.						172	158	163					7																	73661064		2203	4300	6503	SO:0001583	missense	5982	exon5			AACATTTTAATTT		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.362A>C	7.37:g.73661064T>G	ENSP00000055077:p.Lys121Thr	66	0		56	29	NM_181471	B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	ENST00000055077.3	37	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	t	26.8	4.771119	0.90108	.	.	ENSG00000049541	ENST00000055077	T	0.44083	0.93	5.12	5.12	0.69794	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.88450	2.955	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.76055	-0.3099	10	0.87932	D	0	.	14.0527	0.64747	0.0:0.0:0.0:1.0	.	121	P35250	RFC2_HUMAN	T	121	ENSP00000055077:K121T	ENSP00000055077:K121T	K	-	2	0	RFC2	73299000	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.706000	0.84615	2.064000	0.61679	0.519000	0.50382	AAA	.		0.398	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		G	73661064	T	G	73661064	3	3	24	1	0	0	0	0	1	0	0	0	13290	1841	64	4	730	4	RFC2	7	73661064	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	186276	73661064	85477599	361	3508											
POR	5447	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	75615316	75615316	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:75615316T>A	ENST00000461988.1	+	14	1850	c.1745T>A	c.(1744-1746)cTg>cAg	p.L582Q	TMEM120A_ENST00000338761.4_RNA|POR_ENST00000450476.1_Missense_Mutation_p.L481Q|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000419840.1_Intron|POR_ENST00000545601.1_Missense_Mutation_p.L390Q|POR_ENST00000394893.1_Missense_Mutation_p.L582Q|POR_ENST00000439269.1_Missense_Mutation_p.L320Q	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	579					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)	CGGGAGGAGCTGGCGCAGTTC	0.692																																					p.L582Q		.											.	.	.	0			c.T1745A						.						17	23	21					7																	75615316		2023	4130	6153	SO:0001583	missense	5447	exon14			AGGAGCTGGCGCA	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.1745T>A	7.37:g.75615316T>A	ENSP00000419970:p.Leu582Gln	26	0		9	4	NM_000941	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.549631	0.65311	.	.	ENSG00000127948	ENST00000461988;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	3.59	3.59	0.41128	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.64402	D	0.000002	D	0.96812	0.8959	H	0.98111	4.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.988;0.995;0.994;0.995	D	0.97481	1.0047	10	0.87932	D	0	-32.2452	12.3556	0.55174	0.0:0.0:0.0:1.0	.	579;481;390;588	P16435;E7EVY7;F5H468;Q59ED7	NCPR_HUMAN;.;.;.	Q	582;582;390;481;320	ENSP00000419970:L582Q;ENSP00000378355:L582Q;ENSP00000446149:L390Q;ENSP00000416572:L481Q;ENSP00000412490:L320Q	ENSP00000378355:L582Q	L	+	2	0	POR	75453252	1.000000	0.71417	0.997000	0.53966	0.579000	0.36224	7.401000	0.79962	1.863000	0.54032	0.459000	0.35465	CTG	.		0.692	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		A	75615316	T	A	75615316	3	1	24	1	0	0	0	0	1	0	0	0	12296	1580	55	5	1795	5	POR	7	75615316	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1954252	75615316	83523347	362	3509											
SEMA3D	223117	hgsc.bcm.edu	37	7	84651769	84651769	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:84651769T>C	ENST00000284136.6	-	11	1395	c.1352A>G	c.(1351-1353)cAg>cGg	p.Q451R	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	451	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						CACCACTATCTGTGTCAGTCT	0.403																																					p.Q451R	Ovarian(63;442 1191 17318 29975 31528)	.											SEMA3D,NS,adenocarcinoma,0,1	SEMA3D	0	0			c.A1352G						.						277	244	256					7																	84651769		2203	4300	6503	SO:0001583	missense	223117	exon11			ACTATCTGTGTCA	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.1352A>G	7.37:g.84651769T>C	ENSP00000284136:p.Gln451Arg	62	0		49	2	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961558	0.74016	.	.	ENSG00000153993	ENST00000284136	T	0.11385	2.78	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100671	0.64402	D	0.000001	T	0.09642	0.0237	L	0.28192	0.835	0.80722	D	1	B	0.33494	0.414	B	0.29942	0.109	T	0.11108	-1.0601	10	0.56958	D	0.05	.	15.9171	0.79527	0.0:0.0:0.0:1.0	.	451	O95025	SEM3D_HUMAN	R	451	ENSP00000284136:Q451R	ENSP00000284136:Q451R	Q	-	2	0	SEMA3D	84489705	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.055000	0.64282	2.152000	0.67230	0.455000	0.32223	CAG	.		0.403	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		C	84651769	T	C	84651769	3	2	24	1	0	0	0	0	1	0	0	0	14072	1580	55	4	1009	4	SEMA3D	7	84651769	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	9036453	84651769	74486894	363	3510											
GATAD1	57798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	92078113	92078113	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:92078113A>T	ENST00000287957.3	+	2	574	c.297A>T	c.(295-297)aaA>aaT	p.K99N		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	99						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAACACTAAATACAAATCTG	0.363																																					p.K99N		.											.	.	.	0			c.A297T						.						94	101	98					7																	92078113		2203	4300	6503	SO:0001583	missense	57798	exon2			CACTAAATACAAA		CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"GATA zinc finger domain containing"	29941	protein-coding gene	gene with protein product	"ocular development associated gene"	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.297A>T	7.37:g.92078113A>T	ENSP00000287957:p.Lys99Asn	74	0		37	14	NM_021167	B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	37	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389356	0.82902	.	.	ENSG00000157259	ENST00000287957	T	0.64085	-0.08	5.37	-2.88	0.05682	.	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	L	0.41710	1.295	0.58432	D	0.999995	D	0.71674	0.998	D	0.76071	0.987	T	0.66456	-0.5919	10	0.56958	D	0.05	-10.3007	13.7756	0.63050	0.4538:0.0:0.5462:0.0	.	99	Q8WUU5	GATD1_HUMAN	N	99	ENSP00000287957:K99N	ENSP00000287957:K99N	K	+	3	2	GATAD1	91916049	0.679000	0.27596	0.990000	0.47175	0.993000	0.82548	-0.073000	0.11468	-0.393000	0.07739	0.378000	0.23410	AAA	.		0.363	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		T	92078113	A	T	92078113	3	4	24	1	0	0	0	0	1	0	0	0	6284	98	4	5	303	5	GATAD1	7	92078113	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7426344	92078113	67060550	364	3511											
CALCR	799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	93073026	93073026	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:93073026G>A	ENST00000394441.1	-	8	1007	c.692C>T	c.(691-693)gCc>gTc	p.A231V	CALCR_ENST00000421592.1_Missense_Mutation_p.A247V|CALCR_ENST00000360249.4_Missense_Mutation_p.A247V|CALCR_ENST00000359558.2_Missense_Mutation_p.A265V|CALCR_ENST00000426151.1_Missense_Mutation_p.A231V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	265					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)	ATAGTTGCAGGCCATCATGTA	0.443																																					p.A265V		.											.	.	.	0			c.C794T						.						137	127	130					7																	93073026		2203	4300	6503	SO:0001583	missense	799	exon11			TTGCAGGCCATCA	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.692C>T	7.37:g.93073026G>A	ENSP00000377959:p.Ala231Val	54	0		33	14	NM_001164737	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081735	0.36758	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.94	3.02	0.34903	.	.	.	.	.	T	0.24928	0.0605	N	0.11000	0.08	0.29282	N	0.869943	B;B	0.25390	0.125;0.002	B;B	0.29077	0.098;0.012	T	0.19192	-1.0313	9	0.52906	T	0.07	.	8.0843	0.30762	0.0937:0.325:0.5813:0.0	.	265;231	F5H605;A4D1G6	.;.	V	265;247;247;231;231	ENSP00000352561:A265V;ENSP00000353385:A247V;ENSP00000399552:A247V;ENSP00000377959:A231V;ENSP00000389295:A231V	ENSP00000352561:A265V	A	-	2	0	CALCR	92910962	1.000000	0.71417	0.224000	0.23877	0.976000	0.68499	4.535000	0.60629	1.466000	0.48025	0.557000	0.71058	GCC	.		0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93073026	G	A	93073026	3	1	24	1	0	0	0	0	1	0	0	0	2586	1203	42	3	756	3	CALCR	7	93073026	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	994913	93073026	66065637	365	3512											
CYP3A5	1577	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99247744	99247744	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:99247744T>C	ENST00000222982.4	-	12	1464	c.1365A>G	c.(1363-1365)ctA>ctG	p.L455L	CYP3A5_ENST00000343703.5_Silent_p.L445L|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	455					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)	GGACTCTGATTAGAGCAAGTT	0.383																																					p.L455L		.											.	.	.	0			c.A1365G						.						218	194	202					7																	99247744		2203	4297	6500	SO:0001819	synonymous_variant	1577	exon12			TCTGATTAGAGCA	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.1365A>G	7.37:g.99247744T>C		152	0		103	10	NM_000777	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	CCDS5672.1																																																																																			.		0.383	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			C	99247744	T	C	99247744	2	2	24	1	0	0	0	0	0	0	0	1	4189	1741	61	4		4	CYP3A5	7	99247744	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6174718	99247744	59890919	366	3513											
CYP3A5	1577	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99247826	99247826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:99247826delG	ENST00000222982.4	-	12	1382	c.1283delC	c.(1282-1284)cctfs	p.P428fs	CYP3A5_ENST00000343703.5_Frame_Shift_Del_p.P418fs|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	428					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)	GTATATGTAAGGATCTATGCT	0.388																																					p.P428fs		.											.	.	.	0			c.1284delT						.						312	269	284					7																	99247826		2203	4300	6503	SO:0001589	frameshift_variant	1577	exon12			ATGTAAGGATCTA	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.1283delC	7.37:g.99247826delG	ENSP00000222982:p.Pro428fs	121	0		61	22	NM_000777	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Frame_Shift_Del	DEL	ENST00000222982.4	37	CCDS5672.1																																																																																			.		0.388	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			-	99247826	G	-	99247826	7	5	24	1	0	1	0	1	0	0	0	0	4189	1000	35	0	233	0	CYP3A5	7	99247826	Frame_Shift_Del	DEL	G	TCGA-W5-AA39-01A-11D-A417-09	82	99247826	59890837	367	3514	27	3									
CYP3A5	1577	hgsc.bcm.edu	37	7	99247827	99247829	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:99247827_99247829delGAT	ENST00000222982.4	-	12	1379_1381	c.1280_1282delATC	c.(1279-1284)gatcct>gct	p.427_428DP>A	CYP3A5_ENST00000343703.5_In_Frame_Del_p.417_418DP>A|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	427					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)	TATATGTAAGGATCTATGCTGTC	0.384																																					p.427_428del		.											.	.	.	0			c.1281_1283del						.																																			SO:0001651	inframe_deletion	1577	exon12			TGTAAGGATCTAT	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.1280_1282delATC	7.37:g.99247827_99247829delGAT	ENSP00000222982:p.Asp427_Pro428delinsAla	123	0		61	0	NM_000777	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	In_Frame_Del	DEL	ENST00000222982.4	37	CCDS5672.1																																																																																			.		0.384	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			-	99247829	GAT	-	99247827	7	5	24	1	0	1	0	1	0	0	0	0	4189	1174	41	0	234	0	CYP3A5	7	99247827	In_Frame_Del	DEL	GAT	TCGA-W5-AA39-01A-11D-A417-09	1	99247827	59890836	368	3515	27	3									
CYP3A5	1577	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99247829	99247829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:99247829delT	ENST00000222982.4	-	12	1379	c.1280delA	c.(1279-1281)gatfs	p.D427fs	CYP3A5_ENST00000343703.5_Frame_Shift_Del_p.D417fs|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	427					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)	TATGTAAGGATCTATGCTGTC	0.388																																					p.D427fs		.											.	.	.	0			c.1281delT						.						310	267	282					7																	99247829		2203	4300	6503	SO:0001589	frameshift_variant	1577	exon12			TAAGGATCTATGC	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.1280delA	7.37:g.99247829delT	ENSP00000222982:p.Asp427fs	117	0		62	22	NM_000777	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Frame_Shift_Del	DEL	ENST00000222982.4	37	CCDS5672.1																																																																																			.		0.388	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			-	99247829	T	-	99247829	7	5	24	1	0	1	0	1	0	0	0	0	4189	1435	50	0	236	0	CYP3A5	7	99247829	Frame_Shift_Del	DEL	T	TCGA-W5-AA39-01A-11D-A417-09	2	99247829	59890834	369	3516	27	3									
BCAP29	55973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	107258885	107258885	+	3'UTR	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:107258885C>A	ENST00000005259.4	+	0	1142				BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Missense_Mutation_p.F294L|BCAP29_ENST00000379119.2_Missense_Mutation_p.F294L|BCAP29_ENST00000379117.2_3'UTR|BCAP29_ENST00000465919.1_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						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						AATTTAAGTTCAGAAAAATGC	0.294																																					p.F294L		.											.	.	.	0			c.C882A						.						53	56	55					7																	107258885		2202	4292	6494	SO:0001624	3_prime_UTR_variant	55973	exon8			TAAGTTCAGAAAA		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.*77C>A	7.37:g.107258885C>A		116	0		59	29	NM_001008405	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379785	0.42207	.	.	ENSG00000075790	ENST00000445771;ENST00000379119	.	.	.	4.64	0.348	0.16026	.	0.482463	0.15500	N	0.259093	T	0.15696	0.0378	N	0.08118	0	0.09310	N	0.999999	B	0.09022	0.002	B	0.11329	0.006	T	0.16217	-1.0410	9	0.87932	D	0	-24.1803	3.1818	0.06587	0.1996:0.4842:0.0:0.3162	.	294	G5E9L4	.	L	294	.	ENSP00000368414:F294L	F	+	3	2	BCAP29	107046121	0.004000	0.15560	0.398000	0.26321	0.429000	0.31625	-0.414000	0.07114	0.202000	0.20498	0.655000	0.94253	TTC	.		0.294	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		A	107258885	C	A	107258885	1	1	24	0	1	0	0	0	0	0	0	0	1347	825	29	3		3	BCAP29	7	107258885	3'UTR	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	8011056	107258885	51879778	370	3517											
NRCAM	4897	hgsc.bcm.edu	37	7	107824716	107824716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:107824716G>T	ENST00000425651.2	-	19	2272	c.2273C>A	c.(2272-2274)tCa>tAa	p.S758*	NRCAM_ENST00000351718.4_Nonsense_Mutation_p.S742*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.S739*|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.S758*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.S739*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.S758*	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	758	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						ATCAGGCTCTGATCCCAGTCC	0.388																																					p.S758X		.											.	.	.	0			c.C2273A						.						87	75	79					7																	107824716		2203	4300	6503	SO:0001587	stop_gained	4897	exon19			GGCTCTGATCCCA		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.2273C>A	7.37:g.107824716G>T	ENSP00000401244:p.Ser758*	77	0		51	4	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	44	11.036853	0.99507	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	.	.	.	5.46	5.46	0.80206	.	0.183641	0.46442	D	0.000300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.321	0.94240	0.0:0.0:1.0:0.0	.	.	.	.	X	758;758;739;758;742;739;758;758;742	.	ENSP00000325269:S742X	S	-	2	0	NRCAM	107611952	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	7.884000	0.87274	2.548000	0.85928	0.591000	0.81541	TCA	.		0.388	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		T	107824716	G	T	107824716	4	4	24	1	0	0	0	0	0	1	0	0	10683	1294	45	3	1719	3	NRCAM	7	107824716	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	565831	107824716	51313947	371	3518											
TSPAN12	23554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	120496757	120496757	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:120496757A>C	ENST00000222747.3	-	2	668	c.61T>G	c.(61-63)Ttt>Gtt	p.F21V	TSPAN12_ENST00000415871.1_Missense_Mutation_p.F21V	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	21					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTTACCCAAAAGAGCAGATTG	0.537																																					p.F21V		.											.	.	.	0			c.T61G						.						104	89	94					7																	120496757		2203	4300	6503	SO:0001583	missense	23554	exon2			CCCAAAAGAGCAG	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"Tetraspanins"	21641	protein-coding gene	gene with protein product		613138	"transmembrane 4 superfamily member 12"	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.61T>G	7.37:g.120496757A>C	ENSP00000222747:p.Phe21Val	63	0		52	18	NM_012338	A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325459	0.81580	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710;ENST00000430985	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	M	0.84156	2.68	0.80722	D	1	D	0.67145	0.996	D	0.66084	0.941	D	0.91037	0.4868	10	0.87932	D	0	-9.3101	14.307	0.66391	1.0:0.0:0.0:0.0	.	21	O95859	TSN12_HUMAN	V	21	ENSP00000222747:F21V;ENSP00000397699:F21V;ENSP00000411158:F21V;ENSP00000399059:F21V;ENSP00000404942:F21V;ENSP00000388819:F21V	ENSP00000222747:F21V	F	-	1	0	TSPAN12	120283993	1.000000	0.71417	0.958000	0.39756	0.914000	0.54420	6.251000	0.72441	1.865000	0.54081	0.533000	0.62120	TTT	.		0.537	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		C	120496757	A	C	120496757	3	2	24	1	0	0	0	0	1	0	0	0	16684	72	3	4	884	4	TSPAN12	7	120496757	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	12672041	120496757	38641906	372	3519											
COPG2	4232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	130147634	130147634	+	IGR	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:130147634G>A	ENST00000223215.4	+	0	2465				RP11-2E11.9_ENST00000604965.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TTCTGAATATGGTCAGACACA	0.428																																					.	Colon(126;2182 2305 6517 35181)	.											.	.	.	0			.						.						116	110	112					7																	130147634		1906	4125	6031	SO:0001628	intergenic_variant	26958	p.H44Y			GAATATGGTCAGA		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661		7.37:g.130147634G>A		29	0		16	6	.	B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1																																																																																			.		0.428	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		A	130147634	G	A	130147634	1	1	24	0	1	0	0	0	0	0	0	0	3739	1348	47	3		3	COPG2	7	130147634	IGR	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	9650877	130147634	28991029	373	3520											
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	131887488	131887488	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:131887488G>A	ENST00000359827.3	-	12	3465	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R835C			Q9HCM2	PLXA4_HUMAN	plexin A4	835	PSI 3.				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						CAGTGCTGGCGCAGGGTGCAC	0.652																																					p.R835C		.											.	.	.	0			c.C2503T						.						25	28	27					7																	131887488		2087	4221	6308	SO:0001583	missense	91584	exon12			GCTGGCGCAGGGT	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.2503C>T	7.37:g.131887488G>A	ENSP00000352882:p.Arg835Cys	79	0		69	33	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798130	0.70567	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18657	2.2;2.2	4.5	3.61	0.41365	.	0.057135	0.64402	D	0.000003	T	0.44435	0.1293	M	0.83223	2.63	0.51767	D	0.999933	D	0.76494	0.999	D	0.63283	0.913	T	0.49093	-0.8975	10	0.72032	D	0.01	.	11.1637	0.48531	0.0:0.0:0.482:0.518	.	835	Q9HCM2	PLXA4_HUMAN	C	835	ENSP00000323194:R835C;ENSP00000352882:R835C	ENSP00000323194:R835C	R	-	1	0	PLXNA4	131538028	0.923000	0.31300	0.997000	0.53966	0.978000	0.69477	1.538000	0.36094	1.109000	0.41680	0.561000	0.74099	CGC	.		0.652	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131887488	G	A	131887488	3	1	24	1	0	0	0	0	1	0	0	0	12161	1087	38	1	3265	1	PLXNA4	7	131887488	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1739854	131887488	27251175	374	3521											
CHRM2	1129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	136700368	136700368	+	Silent	SNP	C	C	T	rs531986911		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:136700368C>T	ENST00000445907.2	+	3	1284	c.756C>T	c.(754-756)gaC>gaT	p.D252D	CHRM2_ENST00000397608.3_Silent_p.D252D|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.D252D|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Silent_p.D252D|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.D252D|CHRM2_ENST00000401861.1_Silent_p.D252D|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	252					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)	CCAGCAGTGACGATGGCCTGG	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		19521	0		0	False		,,,				2504	0				p.D252D		.											CHRM2,colon,carcinoma,+2,1	CHRM2	+2	0			c.C756T						.						56	58	57					7																	136700368		2203	4300	6503	SO:0001819	synonymous_variant	1129	exon3			CAGTGACGATGGC		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.756C>T	7.37:g.136700368C>T		45	0		25	11	NM_001006632	Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	CCDS5843.1																																																																																			.		0.507	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			T	136700368	C	T	136700368	2	4	24	1	0	0	0	0	0	0	0	1	3384	535	19	1		1	CHRM2	7	136700368	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4812880	136700368	22438295	375	3522											
UBN2	254048	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	138968747	138968747	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:138968747G>A	ENST00000473989.3	+	15	3096	c.3096G>A	c.(3094-3096)tcG>tcA	p.S1032S	UBN2_ENST00000288561.8_Silent_p.S949S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1032	Ser-rich.					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						CTCCCTTCTCGATGGCTGCCT	0.542																																					p.S1032S		.											.	.	.	0			c.G3096A						.						85	94	91					7																	138968747		2034	4179	6213	SO:0001819	synonymous_variant	254048	exon15			CTTCTCGATGGCT	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.3096G>A	7.37:g.138968747G>A		21	0		15	6	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2																																																																																			.		0.542	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		A	138968747	G	A	138968747	2	1	24	1	0	0	0	0	0	0	0	1	16942	1045	37	1		1	UBN2	7	138968747	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2268379	138968747	20169916	376	3523											
ADCK2	90956	ucsc.edu	37	7	140373610	140373610	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:140373610G>A	ENST00000072869.4	+	1	658	c.480G>A	c.(478-480)tcG>tcA	p.S160S	ADCK2_ENST00000476491.1_Silent_p.S160S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	160						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)					ATCTGTTTTCGGAGGCTTTCT	0.602																																					p.S160S													.	ADCK2	37	0			c.G480A						.						46	53	51					7																	140373610		2203	4300	6503	SO:0001819	synonymous_variant	90956	exon1			GTTTTCGGAGGCT	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.480G>A	7.37:g.140373610G>A		45	0		33	4	NM_052853	Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	CCDS5861.1																																																																																			.		0.602	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		A	140373610	G	A	140373610	2	1	24	1	0	0	0	0	0	0	0	1	289	1103	39	1		1	ADCK2	7	140373610	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1404863	140373610	18765053	377	3524											
OR6V1	346517	hgsc.bcm.edu;broad.mit.edu	37	7	142749878	142749878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:142749878G>A	ENST00000418316.1	+	1	462	c.441G>A	c.(439-441)tgG>tgA	p.W147*		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	147						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)					GGGCTGCCTGGGCAGCTCCTT	0.572																																					p.W147X		.											.	.	.	0			c.G441A						.						71	78	76					7																	142749878		2110	4254	6364	SO:0001587	stop_gained	346517	exon1			TGCCTGGGCAGCT		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.441G>A	7.37:g.142749878G>A	ENSP00000396085:p.Trp147*	44	0		34	15	NM_001001667	A4D2I0|B9EH48|Q6IF70	Nonsense_Mutation	SNP	ENST00000418316.1	37	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371765	0.82573	.	.	ENSG00000225781	ENST00000418316	.	.	.	4.16	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.925	0.41487	0.1007:0.0:0.8993:0.0	.	.	.	.	X	147	.	ENSP00000396085:W147X	W	+	3	0	OR6V1	142460000	0.921000	0.31238	0.943000	0.38184	0.786000	0.44442	1.634000	0.37123	0.988000	0.38734	-0.126000	0.14955	TGG	.		0.572	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			A	142749878	G	A	142749878	4	1	24	1	0	0	0	0	0	1	0	0	11250	1241	43	3	443	3	OR6V1	7	142749878	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2376268	142749878	16388785	378	3525											
OR2A2	442361	hgsc.bcm.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233						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)					AAGGAGGGCCGCATAAAGGCC	0.522																																					p.R233H		.											OR2A2,colon,carcinoma,0,1	OR2A2	0	0			c.G698A						.						104	108	107					7																	143807373		2071	4233	6304	SO:0001583	missense	442361	exon1			AGGGCCGCATAAA		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.698G>A	7.37:g.143807373G>A	ENSP00000386209:p.Arg233His	59	0		31	2	NM_001005480	B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880455	0.33255	.	.	ENSG00000221989	ENST00000408979	T	0.00333	8.07	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33327	U	0.005027	T	0.00524	0.0017	M	0.89904	3.07	0.09310	N	1	P	0.35821	0.523	B	0.40940	0.344	T	0.08027	-1.0742	10	0.72032	D	0.01	-4.2634	12.7847	0.57498	0.0:0.0:1.0:0.0	.	233	Q6IF42	OR2A2_HUMAN	H	233	ENSP00000386209:R233H	ENSP00000386209:R233H	R	+	2	0	OR2A2	143438306	0.000000	0.05858	0.365000	0.25901	0.643000	0.38383	0.412000	0.21131	1.938000	0.56188	0.511000	0.50034	CGC	.		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			A	143807373	G	A	143807373	3	1	24	1	0	0	0	0	1	0	0	0	11016	1087	38	1	700	1	OR2A2	7	143807373	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1057495	143807373	15331290	379	3526											
GIMAP8	155038	hgsc.bcm.edu	37	7	150174405	150174406	+	Frame_Shift_Ins	INS	-	-	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:150174405_150174406insC	ENST00000307271.3	+	5	2109_2110	c.1535_1536insC	c.(1534-1539)gaggagfs	p.EE512fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	512	AIG1-type G 3.					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)		CGGTTAGAAGAGGAGGTCAAGC	0.53																																					p.E512fs		.											.	.	.	0			c.1535_1536insC						.																																			SO:0001589	frameshift_variant	155038	exon5			TAGAAGAGGAGGT	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	Exception_encountered	7.37:g.150174405_150174406insC	ENSP00000305107:p.Glu512fs	63	0		34	14	NM_175571		Frame_Shift_Ins	INS	ENST00000307271.3	37	CCDS34777.1																																																																																			.		0.53	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		C	150174406	-	C	150174405	7	5	24	1	0	1	1	0	0	0	0	0	6411	304	11	0	1549	0	GIMAP8	7	150174405	Frame_Shift_Ins	INS	-	TCGA-W5-AA39-01A-11D-A417-09	6367032	150174405	8964258	380	3527	28	2									
GIMAP8	155038	hgsc.bcm.edu	37	7	150174406	150174407	+	Frame_Shift_Ins	INS	-	-	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:150174406_150174407insA	ENST00000307271.3	+	5	2110_2111	c.1536_1537insA	c.(1537-1539)gagfs	p.E513fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	513	AIG1-type G 3.					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)		GGTTAGAAGAGGAGGTCAAGCG	0.535																																					p.E512fs		.											.	.	.	0			c.1536_1537insA						.																																			SO:0001589	frameshift_variant	155038	exon5			AGAAGAGGAGGTC	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	Exception_encountered	7.37:g.150174406_150174407insA	ENSP00000305107:p.Glu513fs	64	0		35	14	NM_175571		Frame_Shift_Ins	INS	ENST00000307271.3	37	CCDS34777.1																																																																																			.		0.535	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		A	150174407	-	A	150174406	7	5	24	1	0	1	1	0	0	0	0	0	6411	991	35	0	1550	0	GIMAP8	7	150174406	Frame_Shift_Ins	INS	-	TCGA-W5-AA39-01A-11D-A417-09	1	150174406	8964257	381	3528	28	2									
NUB1	51667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	151072981	151072981	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:151072981T>A	ENST00000355851.4	+	13	1520	c.1443T>A	c.(1441-1443)ccT>ccA	p.P481P	NUB1_ENST00000413040.2_Silent_p.P491P|NUB1_ENST00000566856.1_Silent_p.P467P|WDR86_ENST00000463000.1_5'Flank|NUB1_ENST00000568733.1_Silent_p.P505P	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	481					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTCCAATCCTGAAACCGACA	0.488																																					p.P505P		.											.	.	.	0			c.T1515A						.						230	230	230					7																	151072981		1970	4151	6121	SO:0001819	synonymous_variant	51667	exon13			CAATCCTGAAACC	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1443T>A	7.37:g.151072981T>A		87	0		87	35	NM_001243351	O95422|Q75MR9|Q8IX22|Q9BXR2	Silent	SNP	ENST00000355851.4	37		.	.	.	.	.	.	.	.	.	.	T	3.996	-0.003453	0.07773	.	.	ENSG00000013374	ENST00000460712	.	.	.	5.29	1.6	0.23607	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.42626	D	0.993367	.	.	.	.	.	.	T	0.42682	-0.9437	4	.	.	.	-1.0148	6.3375	0.21304	0.0:0.0814:0.3315:0.5871	.	.	.	.	Q	68	.	.	L	+	2	0	NUB1	150703914	0.630000	0.27155	0.076000	0.20297	0.329000	0.28539	-0.025000	0.12413	0.117000	0.18138	0.459000	0.35465	CTG	.		0.488	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		A	151072981	T	A	151072981	2	1	24	1	0	0	0	0	0	0	0	1	10753	1567	55	5		5	NUB1	7	151072981	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	898575	151072981	8065682	382	3529											
LMBR1	64327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	156589175	156589175	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:156589175G>A	ENST00000353442.5	-	5	567	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	LMBR1_ENST00000540390.1_Missense_Mutation_p.L90F|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Missense_Mutation_p.L111F	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	111					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AGGGAAGCAAGATTCCACAAA	0.323																																					p.L111F		.											.	.	.	0			c.C331T						.						52	48	49					7																	156589175		2203	4300	6503	SO:0001583	missense	64327	exon5			AAGCAAGATTCCA	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.331C>T	7.37:g.156589175G>A	ENSP00000326604:p.Leu111Phe	108	0		66	27	NM_022458	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200137	0.58126	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.67	4.67	0.58626	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.999	D;P;D	0.87578	0.998;0.868;0.998	T	0.25502	-1.0130	10	0.16420	T	0.52	-14.0235	18.0086	0.89216	0.0:0.0:1.0:0.0	.	90;111;111	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	F	111;109;111;90;111	ENSP00000326604:L111F;ENSP00000408256:L109F;ENSP00000346500:L111F;ENSP00000445509:L90F	ENSP00000337803:L111F	L	-	1	0	LMBR1	156281936	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.925000	0.92832	2.326000	0.78906	0.485000	0.47835	CTT	.		0.323	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		A	156589175	G	A	156589175	3	1	24	1	0	0	0	0	1	0	0	0	8870	942	33	3	1193	3	LMBR1	7	156589175	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	5516194	156589175	2549488	383	3530											
NOM1	64434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	156745289	156745289	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:156745289A>G	ENST00000275820.3	+	2	1124	c.1109A>G	c.(1108-1110)aAc>aGc	p.N370S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	370	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					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)		GGTCTACTTAACAGGTGACCT	0.413																																					p.N370S		.											NOM1,bladder,carcinoma,0,1	NOM1	0	0			c.A1109G						.						103	93	96					7																	156745289		2203	4300	6503	SO:0001583	missense	64434	exon2			TACTTAACAGGTG	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.1109A>G	7.37:g.156745289A>G	ENSP00000275820:p.Asn370Ser	114	0		71	31	NM_138400	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816849	0.50633	.	.	ENSG00000146909	ENST00000275820	T	0.34667	1.35	4.69	4.69	0.59074	MIF4G-like, type 3 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.77064	-0.2726	10	0.87932	D	0	-23.8178	12.7703	0.57417	1.0:0.0:0.0:0.0	.	370	Q5C9Z4	NOM1_HUMAN	S	370	ENSP00000275820:N370S	ENSP00000275820:N370S	N	+	2	0	NOM1	156438050	1.000000	0.71417	0.982000	0.44146	0.091000	0.18340	7.867000	0.87062	1.754000	0.51921	0.456000	0.33151	AAC	.		0.413	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156745289	A	G	156745289	3	3	24	1	0	0	0	0	1	0	0	0	10569	43	2	4	1115	4	NOM1	7	156745289	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	156114	156745289	2393374	384	3531											
DNAJB6	10049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	157208727	157208727	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr7:157208727A>G	ENST00000262177.4	+	10	1121	c.916A>G	c.(916-918)Aag>Gag	p.K306E	DNAJB6_ENST00000443280.1_Missense_Mutation_p.K191E|DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000452797.2_Missense_Mutation_p.K257E	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	306					intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGAAGGTGGCaagaggaagaa	0.502																																					p.K306E	Esophageal Squamous(46;195 967 1350 20350 43814)	.											.	.	.	0			c.A916G						.						135	123	127					7																	157208727		2203	4300	6503	SO:0001583	missense	10049	exon10			GGTGGCAAGAGGA	AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.916A>G	7.37:g.157208727A>G	ENSP00000262177:p.Lys306Glu	79	0		32	13	NM_058246	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	ENST00000262177.4	37	CCDS5946.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519431	0.44866	.	.	ENSG00000105993	ENST00000262177;ENST00000452797;ENST00000443280	T;T;T	0.66995	0.26;-0.22;-0.24	4.46	3.29	0.37713	.	2.482380	0.02140	N	0.057085	T	0.64204	0.2577	L	0.57536	1.79	0.28102	N	0.931373	B;P;B;B	0.41393	0.023;0.748;0.384;0.176	B;B;B;B	0.36959	0.019;0.237;0.048;0.07	T	0.51529	-0.8694	10	0.39692	T	0.17	.	7.9667	0.30102	0.9022:0.0:0.0978:0.0	.	191;257;306;306	E9PH18;B4DN73;A8KAG0;O75190	.;.;.;DNJB6_HUMAN	E	306;257;191	ENSP00000262177:K306E;ENSP00000402270:K257E;ENSP00000396267:K191E	ENSP00000262177:K306E	K	+	1	0	DNAJB6	156901488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.876000	0.63079	0.669000	0.31146	0.482000	0.46254	AAG	.		0.502	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			G	157208727	A	G	157208727	3	3	24	1	0	0	0	0	1	0	0	0	4638	131	5	4	985	4	DNAJB6	7	157208727	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	463438	157208727	1929936	385	3532											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	2886950	2886950	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:2886950A>C	ENST00000520002.1	-	52	8304	c.7749T>G	c.(7747-7749)gcT>gcG	p.A2583A	CSMD1_ENST00000537824.1_Silent_p.A2582A|CSMD1_ENST00000602557.1_Silent_p.A2583A|CSMD1_ENST00000400186.3_Silent_p.A2583A|CSMD1_ENST00000602723.1_Silent_p.A2583A|CSMD1_ENST00000542608.1_Silent_p.A2582A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2583	Sushi 16. {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)		GCAATACTTGAGCACCGTACT	0.542																																					p.A2582A		.											.	.	.	0			c.T7746G						.						67	64	65					8																	2886950		1995	4167	6162	SO:0001819	synonymous_variant	64478	exon51			TACTTGAGCACCG			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.7749T>G	8.37:g.2886950A>C		31	0		19	8	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	A	5.139	0.211268	0.09757	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.88	-8.82	0.00810	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	0.9577	0.01389	0.2547:0.2996:0.2509:0.1948	.	.	.	.	A	2000	.	.	S	-	1	0	CSMD1	2874357	0.977000	0.34250	0.080000	0.20451	0.331000	0.28603	0.228000	0.17814	-2.000000	0.00965	0.482000	0.46254	TCA	.		0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	2886950	A	C	2886950	2	2	24	1	0	0	0	0	0	0	0	1	3953	291	11	4		4	CSMD1	8	2886950	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09		2886950	143477072	386	3533											
CTSB	1508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	11704585	11704585	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:11704585A>C	ENST00000353047.6	-	8	1022	c.769T>G	c.(769-771)Tcg>Gcg	p.S257A	CTSB_ENST00000533455.1_Missense_Mutation_p.S257A|CTSB_ENST00000345125.3_Missense_Mutation_p.S257A|CTSB_ENST00000531089.1_Missense_Mutation_p.S257A|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.S257A|CTSB_ENST00000453527.2_Missense_Mutation_p.S257A|CTSB_ENST00000530640.2_Missense_Mutation_p.S257A|CTSB_ENST00000434271.1_Missense_Mutation_p.S257A|CTSB_ENST00000525076.1_5'Flank|RP11-589N15.2_ENST00000602711.1_RNA	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	257					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)		AGGAAGTCCGAATACACAGAG	0.542																																					p.S257A		.											.	.	.	0			c.T769G						.						95	86	89					8																	11704585		2203	4300	6503	SO:0001583	missense	1508	exon10			AGTCCGAATACAC	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.769T>G	8.37:g.11704585A>C	ENSP00000345672:p.Ser257Ala	62	0		43	14	NM_147780	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	A	4.044	0.005874	0.07866	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.71	-1.39	0.08997	Peptidase C1A, papain C-terminal (2);	0.629214	0.16336	N	0.218916	T	0.67636	0.2914	N	0.16098	0.37	0.21256	N	0.999749	B;B;B;B;B	0.11235	0.004;0.0;0.001;0.0;0.003	B;B;B;B;B	0.18871	0.023;0.007;0.012;0.002;0.014	T	0.52071	-0.8624	10	0.12103	T	0.63	.	9.5641	0.39387	0.1857:0.6388:0.0:0.1755	.	194;257;163;257;194	B3KUJ8;A8K2H4;B4DMY4;P07858;F5H2P9	.;.;.;CATB_HUMAN;.	A	257;194;257;257;257;257;257;257;257;163	ENSP00000415889:S257A;ENSP00000345672:S257A;ENSP00000435105:S257A;ENSP00000433215:S257A;ENSP00000409917:S257A;ENSP00000342070:S257A;ENSP00000432244:S257A;ENSP00000434217:S257A	ENSP00000342070:S257A	S	-	1	0	CTSB	11741994	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.894000	0.28350	-0.161000	0.10983	-0.429000	0.05907	TCG	.		0.542	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		C	11704585	A	C	11704585	3	2	24	1	0	0	0	0	1	0	0	0	4039	246	9	4	262	4	CTSB	8	11704585	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8817635	11704585	134659437	387	3534											
MTUS1	57509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	17510965	17510965	+	Missense_Mutation	SNP	T	T	C	rs570318137		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:17510965T>C	ENST00000262102.6	-	11	3481	c.3257A>G	c.(3256-3258)gAt>gGt	p.D1086G	MTUS1_ENST00000400046.1_Missense_Mutation_p.D158G|MTUS1_ENST00000544260.1_Missense_Mutation_p.D231G|MTUS1_ENST00000519263.1_Missense_Mutation_p.D1032G|MTUS1_ENST00000381861.3_Missense_Mutation_p.D333G|MTUS1_ENST00000297488.6_Missense_Mutation_p.D252G|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381869.3_Missense_Mutation_p.D1032G	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1086					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)		AGAAAGTAAATCTTCAAGCGA	0.333													T|||	1	0.000199681	8e-04	0	5008	,	,		17885	0		0	False		,,,				2504	0				p.D1086G		.											.	.	.	0			c.A3257G						.						72	66	68					8																	17510965		1804	4073	5877	SO:0001583	missense	57509	exon11			AGTAAATCTTCAA	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.3257A>G	8.37:g.17510965T>C	ENSP00000262102:p.Asp1086Gly	96	0		59	25	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305986	0.81247	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.35973	1.28;1.28;2.16;1.28;1.28;1.28;1.28	5.32	5.32	0.75619	.	0.208536	0.49916	D	0.000133	T	0.48077	0.1480	M	0.69823	2.125	0.80722	D	1	P;P;B;P	0.44776	0.843;0.746;0.39;0.532	P;P;B;B	0.47346	0.487;0.544;0.329;0.423	T	0.53837	-0.8382	10	0.72032	D	0.01	-16.7254	15.611	0.76716	0.0:0.0:0.0:1.0	.	1032;1086;333;252	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	G	1032;231;158;252;333;1086;1032	ENSP00000371293:D1032G;ENSP00000445738:D231G;ENSP00000382921:D158G;ENSP00000297488:D252G;ENSP00000371285:D333G;ENSP00000262102:D1086G;ENSP00000430167:D1032G	ENSP00000262102:D1086G	D	-	2	0	MTUS1	17555245	1.000000	0.71417	0.892000	0.35008	0.960000	0.62799	2.410000	0.44592	2.150000	0.67090	0.383000	0.25322	GAT	.		0.333	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		C	17510965	T	C	17510965	3	2	24	1	0	0	0	0	1	0	0	0	10003	1435	50	4	575	4	MTUS1	8	17510965	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5806380	17510965	128853057	388	3535											
PSD3	23362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	18662106	18662106	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:18662106T>G	ENST00000327040.8	-	6	1938	c.1836A>C	c.(1834-1836)gaA>gaC	p.E612D	PSD3_ENST00000286485.8_Missense_Mutation_p.E78D|PSD3_ENST00000523619.1_Missense_Mutation_p.E547D|PSD3_ENST00000440756.2_Missense_Mutation_p.E612D	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	612	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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)		GTTTGCTAAATTCGTTGCTAT	0.383																																					p.E612D		.											.	.	.	0			c.A1836C						.						98	102	100					8																	18662106		2203	4300	6503	SO:0001583	missense	23362	exon6			GCTAAATTCGTTG	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.1836A>C	8.37:g.18662106T>G	ENSP00000324127:p.Glu612Asp	103	0		66	23	NM_015310	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.60|10.60	1.395887|1.395887	0.25205|0.25205	.|.	.|.	ENSG00000156011|ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851|ENST00000520858;ENST00000521027	T;T;T;T;T|.	0.55930|.	0.49;0.49;0.49;0.49;0.49|.	6.07|6.07	4.93|4.93	0.64822|0.64822	.|.	0.180315|.	0.49305|.	D|.	0.000150|.	T|T	0.39989|0.39989	0.1099|0.1099	N|N	0.22421|0.22421	0.69|0.69	0.37667|0.37667	D|D	0.922976|0.922976	B;B|.	0.15141|.	0.012;0.001|.	B;B|.	0.18871|.	0.023;0.005|.	T|T	0.39121|0.39121	-0.9629|-0.9629	10|5	0.02654|.	T|.	1|.	.|.	5.8376|5.8376	0.18615|0.18615	0.0:0.0825:0.1696:0.7478|0.0:0.0825:0.1696:0.7478	.|.	612;78|.	E9KL50;Q9NYI0-3|.	.;.|.	D|L	612;612;78;547;53|45;60	ENSP00000324127:E612D;ENSP00000401704:E612D;ENSP00000286485:E78D;ENSP00000430640:E547D;ENSP00000429069:E53D|.	ENSP00000286485:E78D|.	E|I	-|-	3|1	2|0	PSD3|PSD3	18706386|18706386	0.987000|0.987000	0.35691|0.35691	1.000000|1.000000	0.80357|0.80357	0.807000|0.807000	0.45602|0.45602	0.082000|0.082000	0.14847|0.14847	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAA|ATT	.		0.383	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		G	18662106	T	G	18662106	3	3	24	1	0	0	0	0	1	0	0	0	12690	1490	52	4	1351	4	PSD3	8	18662106	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1151141	18662106	127701916	389	3536											
INTS10	55174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	19700398	19700398	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:19700398T>C	ENST00000397977.3	+	14	2077	c.1679T>C	c.(1678-1680)aTc>aCc	p.I560T		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	560					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)		AGCAAGGCTATCATGCCATAC	0.343																																					p.I560T		.											.	.	.	0			c.T1679C						.						155	144	147					8																	19700398		1871	4128	5999	SO:0001583	missense	55174	exon14			AGGCTATCATGCC	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.1679T>C	8.37:g.19700398T>C	ENSP00000381064:p.Ile560Thr	71	0		34	16	NM_018142	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.40|18.40	3.615876|3.615876	0.66672|0.66672	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000397977|ENST00000520670	T|.	0.50813|.	0.73|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.233115|.	0.45606|.	D|.	0.000342|.	T|T	0.61714|0.61714	0.2369|0.2369	L|L	0.48642|0.48642	1.525|1.525	0.42521|0.42521	D|D	0.993006|0.993006	B|.	0.33238|.	0.403|.	B|.	0.25291|.	0.059|.	T|T	0.60296|0.60296	-0.7291|-0.7291	9|5	.|.	.|.	.|.	-12.6702|-12.6702	14.2317|14.2317	0.65898|0.65898	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	560|.	Q9NVR2|.	INT10_HUMAN|.	T|P	560|50	ENSP00000381064:I560T|.	.|.	I|S	+|+	2|1	0|0	INTS10|INTS10	19744678|19744678	1.000000|1.000000	0.71417|0.71417	0.341000|0.341000	0.25589|0.25589	0.990000|0.990000	0.78478|0.78478	7.320000|7.320000	0.79064|0.79064	2.032000|2.032000	0.59987|0.59987	0.533000|0.533000	0.62120|0.62120	ATC|TCA	.		0.343	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		C	19700398	T	C	19700398	3	2	24	1	0	0	0	0	1	0	0	0	7803	1435	50	4	1733	4	INTS10	8	19700398	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1038292	19700398	126663624	390	3537											
TNFRSF10D	8793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	23003411	23003411	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:23003411A>G	ENST00000312584.3	-	5	600	c.506T>C	c.(505-507)gTc>gCc	p.V169A		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	169					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)		ACAATTACTGACCTTGACCAT	0.557																																					p.V169A		.											.	.	.	0			c.T506C						.						126	116	119					8																	23003411		2203	4300	6503	SO:0001583	missense	8793	exon5			TTACTGACCTTGA	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.506T>C	8.37:g.23003411A>G	ENSP00000310263:p.Val169Ala	53	0		42	14	NM_003840	B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	ENST00000312584.3	37	CCDS6038.1	.	.	.	.	.	.	.	.	.	.	a	6.722	0.502003	0.12822	.	.	ENSG00000173530	ENST00000312584	T	0.39997	1.05	1.99	-3.99	0.04069	TNFR/CD27/30/40/95 cysteine-rich region (4);	56.032600	0.02416	U	0.082087	T	0.55768	0.1941	M	0.66439	2.03	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.56195	-0.8019	10	0.25751	T	0.34	.	3.2494	0.06808	0.4071:0.0:0.1571:0.4358	.	169	Q9UBN6	TR10D_HUMAN	A	169	ENSP00000310263:V169A	ENSP00000310263:V169A	V	-	2	0	TNFRSF10D	23059356	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.137000	0.01304	-2.345000	0.00621	-0.695000	0.03696	GTC	.		0.557	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			G	23003411	A	G	23003411	3	3	24	1	0	0	0	0	1	0	0	0	16330	275	10	4	674	4	TNFRSF10D	8	23003411	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3303013	23003411	123360611	391	3538											
LOXL2	4017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	23198669	23198669	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:23198669T>G	ENST00000389131.3	-	4	948	c.579A>C	c.(577-579)tcA>tcC	p.S193S	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	193	SRCR 2. {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)		TGCGGTAGGTTGAGAGGATGG	0.567																																					p.S193S		.											.	.	.	0			c.A579C						.						147	118	127					8																	23198669		2203	4300	6503	SO:0001819	synonymous_variant	4017	exon4			GTAGGTTGAGAGG	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.579A>C	8.37:g.23198669T>G		41	0		41	16	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	CCDS34864.1																																																																																			.		0.567	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			G	23198669	T	G	23198669	2	3	24	1	0	0	0	0	0	0	0	1	8935	1799	63	4		4	LOXL2	8	23198669	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	195258	23198669	123165353	392	3539											
NEFM	4741	hgsc.bcm.edu	37	8	24775376	24775376	+	Missense_Mutation	SNP	T	T	C	rs201305028		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:24775376T>C	ENST00000221166.5	+	3	2790	c.2008T>C	c.(2008-2010)Tca>Cca	p.S670P	NEFM_ENST00000437366.2_Missense_Mutation_p.S631P|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.S294P			P07197	NFM_HUMAN	neurofilament, medium polypeptide	670	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.				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)			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)		GTCTCCTGTGTCAAAATCACC	0.483																																					p.S670P		.											NEFM,lower_third,carcinoma,-2,1	NEFM	-2	0			c.T2008C						.						87	90	89					8																	24775376		2203	4300	6503	SO:0001583	missense	4741	exon3			CCTGTGTCAAAAT	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.2008T>C	8.37:g.24775376T>C	ENSP00000221166:p.Ser670Pro	127	0		97	4	NM_005382	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.443080	0.00180	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.93763	-1.71;-1.65;-3.28	2.52	-5.05	0.02955	.	.	.	.	.	T	0.74122	0.3675	N	0.00926	-1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.65331	-0.6194	9	0.31617	T	0.26	.	3.2688	0.06874	0.267:0.0:0.2386:0.4944	.	670	P07197	NFM_HUMAN	P	670;631;294	ENSP00000221166:S670P;ENSP00000410137:S631P;ENSP00000412295:S294P	ENSP00000221166:S670P	S	+	1	0	NEFM	24831281	0.051000	0.20477	0.000000	0.03702	0.050000	0.14768	-0.304000	0.08199	-1.534000	0.01743	-1.344000	0.01245	TCA	.		0.483	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		C	24775376	T	C	24775376	3	2	24	1	0	0	0	0	1	0	0	0	10355	1667	58	4	2018	4	NEFM	8	24775376	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1576707	24775376	121588646	393	3540											
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	35544140	35544140	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:35544140A>T	ENST00000404895.2	+	7	1325	c.997A>T	c.(997-999)Aca>Tca	p.T333S	UNC5D_ENST00000453357.2_Missense_Mutation_p.T328S|UNC5D_ENST00000420357.1_Missense_Mutation_p.T277S|UNC5D_ENST00000416672.1_Missense_Mutation_p.T333S|UNC5D_ENST00000287272.2_Missense_Mutation_p.T277S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	333	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		CCGGGAGTGCACAGCACCACC	0.507																																					p.T333S		.											.	.	.	0			c.A997T						.						122	104	110					8																	35544140		2203	4300	6503	SO:0001583	missense	137970	exon7			GAGTGCACAGCAC	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.997A>T	8.37:g.35544140A>T	ENSP00000385143:p.Thr333Ser	60	0		26	13	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	9.964	1.223648	0.22457	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.51071	0.72;2.24;2.24;0.72;0.72	5.76	4.59	0.56863	.	0.272323	0.46145	N	0.000313	T	0.29684	0.0741	N	0.20357	0.565	0.80722	D	1	B;B;B	0.21381	0.055;0.046;0.026	B;B;B	0.20955	0.032;0.018;0.031	T	0.07424	-1.0773	10	0.24483	T	0.36	-13.2536	8.2393	0.31650	0.8135:0.0:0.0662:0.1203	.	333;328;333	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	S	333;277;277;333;328	ENSP00000385143:T333S;ENSP00000392739:T277S;ENSP00000287272:T277S;ENSP00000412652:T333S;ENSP00000394303:T328S	ENSP00000287272:T277S	T	+	1	0	UNC5D	35663682	0.944000	0.32072	0.999000	0.59377	0.968000	0.65278	2.432000	0.44784	1.086000	0.41228	0.528000	0.53228	ACA	.		0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			T	35544140	A	T	35544140	3	4	24	1	0	0	0	0	1	0	0	0	17044	159	6	5	1023	5	UNC5D	8	35544140	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	10768764	35544140	110819882	394	3541											
KCNU1	157855	hgsc.bcm.edu	37	8	36675277	36675277	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:36675277G>T	ENST00000399881.3	+	10	1142	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	369	RCK N-terminal.				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)		TTTCCTGGGAGAGTAAGTATA	0.373																																					p.E369X		.											.	.	.	0			c.G1105T						.						125	113	117					8																	36675277		1851	4086	5937	SO:0001630	splice_region_variant	157855	exon10			CTGGGAGAGTAAG	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.1106+1G>T	8.37:g.36675277G>T		119	0		86	5	NM_001031836		Nonsense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	38	6.834054	0.97873	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.31	4.41	0.53225	.	0.000000	0.38111	U	0.001807	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-1.9162	12.4646	0.55751	0.0:0.0:0.8261:0.1739	.	.	.	.	X	369	.	ENSP00000382770:E369X	E	+	1	0	KCNU1	36794435	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.963000	0.63694	1.298000	0.44778	0.655000	0.94253	GAA	.		0.373	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	Nonsense_Mutation	T	36675277	G	T	36675277	5	4	24	1	0	0	0	0	0	0	1	0	8120	956	33	3	1143	3	KCNU1	8	36675277	Splice_Site	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1131137	36675277	109688745	395	3542											
WHSC1L1	54904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	38205356	38205356	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:38205356A>G	ENST00000317025.8	-	2	851	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.Y112H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.Y112H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.Y112H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	112					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)			TCTGAATGATAATAGTCAGTG	0.428			T	NUP98	AML																																p.Y112H		.		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	.	.	0			c.T334C						.						136	134	134					8																	38205356		2203	4300	6503	SO:0001583	missense	54904	exon2			AATGATAATAGTC	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.334T>C	8.37:g.38205356A>G	ENSP00000313983:p.Tyr112His	96	0		68	28	NM_017778	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112321	0.77210	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95518	-3.71;-3.73;-3.73;-0.27;0.75	5.69	5.69	0.88448	.	0.000000	0.44097	U	0.000497	D	0.96765	0.8944	L	0.54323	1.7	0.49687	D	0.999813	D;D;D;D	0.71674	0.991;0.995;0.998;0.991	P;P;D;P	0.68192	0.77;0.885;0.956;0.77	D	0.97338	0.9955	10	0.72032	D	0.01	.	15.9429	0.79771	1.0:0.0:0.0:0.0	.	112;112;112;112	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	H	112	ENSP00000393284:Y112H;ENSP00000313983:Y112H;ENSP00000434730:Y112H;ENSP00000313410:Y112H;ENSP00000435422:Y112H	ENSP00000313410:Y112H	Y	-	1	0	WHSC1L1	38324513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.009000	0.70745	2.147000	0.66899	0.533000	0.62120	TAT	.		0.428	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		G	38205356	A	G	38205356	3	3	24	1	0	0	0	0	1	0	0	0	17412	362	13	4	4158	4	WHSC1L1	8	38205356	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1530079	38205356	108158666	396	3543											
RB1CC1	9821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	53568653	53568653	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:53568653G>A	ENST00000025008.5	-	15	4259	c.3736C>T	c.(3736-3738)Cta>Tta	p.L1246L	RB1CC1_ENST00000435644.2_Silent_p.L1246L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.L1246L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1246					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AATTCTTTTAGGGCAGTCTGA	0.328																																					p.L1246L	GBM(180;1701 2102 13475 42023 52570)	.											.	.	.	0			c.C3736T						.						108	109	109					8																	53568653		2202	4298	6500	SO:0001819	synonymous_variant	9821	exon15			CTTTTAGGGCAGT	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3736C>T	8.37:g.53568653G>A		55	0		55	26	NM_001083617	Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	CCDS34892.1																																																																																			.		0.328	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53568653	G	A	53568653	2	1	24	1	0	0	0	0	0	0	0	1	13144	991	35	3		3	RB1CC1	8	53568653	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	15363297	53568653	92795369	397	3544											
XKR4	114786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	56015559	56015559	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:56015559T>G	ENST00000327381.6	+	1	611	c.511T>G	c.(511-513)Ttc>Gtc	p.F171V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	171						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)			TGTGCACGATTTCAGCACCGA	0.672											OREG0006933	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=XKR4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.F171V		.											.	.	.	0			c.T511G						.						41	31	34					8																	56015559		2203	4298	6501	SO:0001583	missense	114786	exon1			CACGATTTCAGCA	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.511T>G	8.37:g.56015559T>G	ENSP00000328326:p.Phe171Val	22	0	1012	23	9	NM_052898	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658821	0.88154	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.62639	0.01	5.57	5.57	0.84162	.	0.191099	0.44902	D	0.000405	T	0.65893	0.2735	L	0.36672	1.1	0.48185	D	0.999603	D	0.53619	0.961	P	0.54924	0.764	T	0.67027	-0.5774	10	0.48119	T	0.1	-1.1774	15.7316	0.77810	0.0:0.0:0.0:1.0	.	171	Q5GH76	XKR4_HUMAN	V	171	ENSP00000328326:F171V	ENSP00000328326:F171V	F	+	1	0	XKR4	56178113	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.430000	0.80321	2.118000	0.64928	0.528000	0.53228	TTC	.		0.672	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		G	56015559	T	G	56015559	3	3	24	1	0	0	0	0	1	0	0	0	17482	1841	64	4	513	4	XKR4	8	56015559	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2446906	56015559	90348463	398	3545	29	2									
XKR4	114786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	56015562	56015562	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:56015562A>T	ENST00000327381.6	+	1	614	c.514A>T	c.(514-516)Agc>Tgc	p.S172C		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	172						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)			GCACGATTTCAGCACCGAGGA	0.672											OREG0006933	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=XKR4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.S172C		.											.	.	.	0			c.A514T						.						39	30	33					8																	56015562		2203	4297	6500	SO:0001583	missense	114786	exon1			GATTTCAGCACCG	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.514A>T	8.37:g.56015562A>T	ENSP00000328326:p.Ser172Cys	22	0	1012	23	11	NM_052898	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079734	0.76528	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.66460	-0.21	5.57	3.2	0.36748	.	0.373631	0.29178	N	0.012918	T	0.73598	0.3607	L	0.57536	1.79	0.35760	D	0.820064	D	0.69078	0.997	P	0.62649	0.905	T	0.79237	-0.1886	10	0.87932	D	0	-7.0293	8.9059	0.35523	0.7478:0.0:0.2522:0.0	.	172	Q5GH76	XKR4_HUMAN	C	172	ENSP00000328326:S172C	ENSP00000328326:S172C	S	+	1	0	XKR4	56178116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.026000	0.49689	0.933000	0.37291	0.528000	0.53228	AGC	.		0.672	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		T	56015562	A	T	56015562	3	4	24	1	0	0	0	0	1	0	0	0	17482	188	7	5	516	5	XKR4	8	56015562	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3	56015562	90348460	399	3546	29	2									
SDR16C5	195814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	57228891	57228892	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GC	GC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:57228891_57228892GC>AA	ENST00000303749.3	-	2	652_653	c.15_16GC>TT	c.(13-18)ctGCaa>ctTTaa	p.Q6*	SDR16C5_ENST00000522671.1_Nonsense_Mutation_p.Q6*|SDR16C5_ENST00000396721.2_Nonsense_Mutation_p.Q6*	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	6					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTGATGATTGCAGGTTGAAAG	0.416																																					p.Q6*		.											.	.	.	0			c.G15T						.																																			SO:0001587	stop_gained	195814	exon2			TGATTGCAGGTTG		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.15_16delinsAA	8.37:g.57228891_57228892delinsAA	ENSP00000307607:p.Gln6*	27	0		15	7	NM_138969	B4DGK2|Q330K3|Q8TDV9|Q96LX1	Nonsense_Mutation	DNP	ENST00000303749.3	37	CCDS6167.1																																																																																			.		0.416	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		AA	57228892	GC	AA	57228891	4	1	24	1	0	0	0	0	0	1	0	0	14016	1328	46	3	937	3	SDR16C5	8	57228891	Nonsense_Mutation	DNP	GC	TCGA-W5-AA39-01A-11D-A417-09	1213329	57228891	89135131	400	3547											
CHD7	55636	hgsc.bcm.edu	37	8	61713037	61713037	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:61713037G>A	ENST00000423902.2	+	5	2808	c.2329G>A	c.(2329-2331)Gct>Act	p.A777T	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.A777T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	777					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)			TGATGCAGATGCTGCTGGGAG	0.473																																					p.A777T		.											CHD7_ENST00000423902,NS,carcinoma,0,2	CHD7_ENST00000423902	0	1	Insertion - In frame(1)	lung(1)	c.G2329A						.						53	55	55					8																	61713037		2012	4206	6218	SO:0001583	missense	55636	exon5			GCAGATGCTGCTG	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.2329G>A	8.37:g.61713037G>A	ENSP00000392028:p.Ala777Thr	85	0		55	2	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872203	0.33069	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.54479	0.57;0.57	5.81	4.94	0.65067	Chromo domain-like (1);	0.170964	0.39759	N	0.001266	T	0.31136	0.0787	N	0.08118	0	0.45046	D	0.998061	B	0.26318	0.146	B	0.25987	0.065	T	0.11446	-1.0587	10	0.13470	T	0.59	-8.6027	13.351	0.60601	0.0729:0.0:0.9271:0.0	.	777	Q9P2D1	CHD7_HUMAN	T	777	ENSP00000392028:A777T;ENSP00000436027:A777T	ENSP00000307304:A777T	A	+	1	0	CHD7	61875591	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.342000	0.59341	1.452000	0.47756	0.655000	0.94253	GCT	.		0.473	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61713037	G	A	61713037	3	1	24	1	0	0	0	0	1	0	0	0	3337	1319	46	3	2343	3	CHD7	8	61713037	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	4484146	61713037	84650985	401	3548											
TRIM55	84675	hgsc.bcm.edu	37	8	67049405	67049405	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:67049405G>T	ENST00000315962.4	+	4	956	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	TRIM55_ENST00000350034.4_Missense_Mutation_p.D195Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D195Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.D195Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	195					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.D195N(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)			CCAGCTGGAAGACACCTGCAA	0.527																																					p.D195Y		.											TRIM55,trunk,malignant_melanoma,0,1	TRIM55	0	1	Substitution - Missense(1)	skin(1)	c.G583T						.						106	88	94					8																	67049405		2203	4300	6503	SO:0001583	missense	84675	exon4			CTGGAAGACACCT	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.583G>T	8.37:g.67049405G>T	ENSP00000323913:p.Asp195Tyr	28	0		23	2	NM_184086	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409787	0.83340	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.40225	1.54;1.55;1.54;1.04	5.4	4.52	0.55395	.	0.142501	0.64402	D	0.000007	T	0.56615	0.1997	L	0.52905	1.665	0.44834	D	0.997848	D;D;P;P	0.55800	0.973;0.96;0.806;0.927	P;P;P;P	0.61592	0.847;0.891;0.498;0.785	T	0.60954	-0.7160	10	0.87932	D	0	.	14.4498	0.67376	0.0712:0.0:0.9288:0.0	.	195;195;195;195	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	Y	195	ENSP00000323913:D195Y;ENSP00000297348:D195Y;ENSP00000276573:D195Y;ENSP00000332302:D195Y	ENSP00000276573:D195Y	D	+	1	0	TRIM55	67211959	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.541000	0.67212	1.409000	0.46915	0.655000	0.94253	GAC	.		0.527	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		T	67049405	G	T	67049405	3	4	24	1	0	0	0	0	1	0	0	0	16577	942	33	3	597	3	TRIM55	8	67049405	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	5336368	67049405	79314617	402	3549											
TRAM1	23471	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	71495450	71495450	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:71495450C>A	ENST00000262213.2	-	10	1169	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	TRAM1_ENST00000521425.1_Missense_Mutation_p.V248L|TRAM1_ENST00000536748.1_Missense_Mutation_p.V303L|TRAM1_ENST00000521049.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	334					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)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTCTTCTTCACAGCTGGTGCC	0.383																																					p.V334L	Ovarian(85;984 1334 5116 12432 40638)	.											.	.	.	0			c.G1000T						.						131	119	123					8																	71495450		2203	4300	6503	SO:0001583	missense	23471	exon10			TCTTCACAGCTGG	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.1000G>T	8.37:g.71495450C>A	ENSP00000262213:p.Val334Leu	62	0		24	11	NM_014294	B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313908	0.23908	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	T;T;T	0.42900	0.96;1.55;1.55	5.21	4.34	0.51931	.	0.889339	0.09919	N	0.738667	T	0.26412	0.0645	N	0.11756	0.17	0.37503	D	0.916835	B	0.09022	0.002	B	0.08055	0.003	T	0.09618	-1.0666	10	0.33940	T	0.23	.	9.5977	0.39584	0.0:0.7841:0.1415:0.0744	.	334	Q15629	TRAM1_HUMAN	L	248;334;303	ENSP00000428052:V248L;ENSP00000262213:V334L;ENSP00000439359:V303L	ENSP00000262213:V334L	V	-	1	0	TRAM1	71658004	0.998000	0.40836	0.912000	0.35992	0.958000	0.62258	0.910000	0.28571	1.445000	0.47624	-0.140000	0.14226	GTG	.		0.383	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		A	71495450	C	A	71495450	3	1	24	1	0	0	0	0	1	0	0	0	16499	478	17	3	132	3	TRAM1	8	71495450	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4446045	71495450	74868572	403	3550											
IMPA1	3612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	82588479	82588479	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:82588479A>T	ENST00000256108.5	-	5	803	c.338T>A	c.(337-339)gTa>gAa	p.V113E	IMPA1_ENST00000449740.2_Missense_Mutation_p.V172E|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000311489.4_Missense_Mutation_p.V113E	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	113					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CTTTTTATTTACAGCAAAGCC	0.244																																					p.V172E		.											.	.	.	0			c.T515A						.						29	30	29					8																	82588479		2191	4258	6449	SO:0001583	missense	3612	exon6			TTATTTACAGCAA		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.338T>A	8.37:g.82588479A>T	ENSP00000256108:p.Val113Glu	275	0		178	70	NM_001144878	B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.938996|4.938996	0.92526|0.92526	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000523942|ENST00000256108;ENST00000311489;ENST00000449740;ENST00000519964;ENST00000521360;ENST00000522997;ENST00000518202	.|T;T;T;T;T;T;T	.|0.50548	.|0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.65647	.|0.2711	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.85130	.|0.992;0.997;0.994	.|T	.|0.69555	.|-0.5114	.|10	0.51188|0.72032	T|D	0.08|0.01	-17.4011|-17.4011	13.2598|13.2598	0.60098|0.60098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|113;172;113	.|B4DLN3;B7Z6Q4;P29218	.|.;.;IMPA1_HUMAN	X|E	137|113;113;172;105;78;172;144	.|ENSP00000256108:V113E;ENSP00000311803:V113E;ENSP00000408526:V172E;ENSP00000429322:V105E;ENSP00000430283:V78E;ENSP00000430081:V172E;ENSP00000429516:V144E	ENSP00000428425:C108X|ENSP00000256108:V113E	C|V	-|-	3|2	2|0	IMPA1|IMPA1	82751034|82751034	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.977000|0.977000	0.68977|0.68977	8.109000|8.109000	0.89561|0.89561	1.602000|1.602000	0.50124|0.50124	0.448000|0.448000	0.29417|0.29417	TGT|GTA	.		0.244	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			T	82588479	A	T	82588479	3	4	24	1	0	0	0	0	1	0	0	0	7749	391	14	5	515	5	IMPA1	8	82588479	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	11093029	82588479	63775543	404	3551											
PSKH2	85481	ucsc.edu;bcgsc.ca	37	8	87060845	87060845	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:87060845G>A	ENST00000276616.2	-	3	1078	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	335							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)			TCGGGATATGGCCCTCTGGAG	0.537																																					p.A335V													.	PSKH2	79	0			c.C1004T						.						102	109	107					8																	87060845		2203	4300	6503	SO:0001583	missense	85481	exon3			GATATGGCCCTCT	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.1004C>T	8.37:g.87060845G>A	ENSP00000276616:p.Ala335Val	79	0		43	5	NM_033126	A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319347	0.41096	.	.	ENSG00000147613	ENST00000276616	T	0.38560	1.13	4.98	2.0	0.26442	Protein kinase-like domain (1);	.	.	.	.	T	0.16769	0.0403	N	0.02011	-0.69	0.23889	N	0.996551	B	0.02656	0.0	B	0.06405	0.002	T	0.20009	-1.0288	9	0.45353	T	0.12	.	6.2429	0.20801	0.4088:0.0:0.5912:0.0	.	335	Q96QS6	KPSH2_HUMAN	V	335	ENSP00000276616:A335V	ENSP00000276616:A335V	A	-	2	0	PSKH2	87129961	1.000000	0.71417	0.962000	0.40283	0.845000	0.48019	1.577000	0.36515	0.073000	0.16731	0.650000	0.86243	GCC	.		0.537	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		A	87060845	G	A	87060845	3	1	24	1	0	0	0	0	1	0	0	0	12707	1203	42	3	155	3	PSKH2	8	87060845	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	4472366	87060845	59303177	405	3552											
WWP1	11059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	87454934	87454934	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:87454934A>G	ENST00000517970.1	+	18	2232	c.1925A>G	c.(1924-1926)cAg>cGg	p.Q642R	WWP1_ENST00000349423.2_Missense_Mutation_p.Q424R|WWP1_ENST00000341922.2_Missense_Mutation_p.Q512R|WWP1_ENST00000265428.4_Missense_Mutation_p.Q642R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	642	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						TATTGTCTGCAGATAAATCCA	0.338																																					p.Q642R		.											.	.	.	0			c.A1925G						.						130	118	122					8																	87454934		2203	4300	6503	SO:0001583	missense	11059	exon18			GTCTGCAGATAAA	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.1925A>G	8.37:g.87454934A>G	ENSP00000427793:p.Gln642Arg	99	0		48	22	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684661	0.88639	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.4	5.4	0.78164	HECT (4);	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.83483	2.645	0.80722	D	1	B;P	0.41366	0.093;0.747	B;P	0.47705	0.157;0.555	T	0.72724	-0.4207	10	0.87932	D	0	.	15.4113	0.74923	1.0:0.0:0.0:0.0	.	424;642	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	R	642;642;512;424	ENSP00000427793:Q642R;ENSP00000265428:Q642R;ENSP00000340564:Q512R;ENSP00000342665:Q424R	ENSP00000265428:Q642R	Q	+	2	0	WWP1	87524050	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.027000	0.59764	0.477000	0.44152	CAG	.		0.338	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		G	87454934	A	G	87454934	3	3	24	1	0	0	0	0	1	0	0	0	17464	188	7	4	1987	4	WWP1	8	87454934	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	394089	87454934	58909088	406	3553											
UBR5	51366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	103299709	103299709	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:103299709T>C	ENST00000520539.1	-	37	5515	c.4909A>G	c.(4909-4911)Agt>Ggt	p.S1637G	UBR5_ENST00000521922.1_Missense_Mutation_p.S1631G|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.S1637G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1637					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)			CTGCGCCCACTAGCATTATCT	0.438																																					p.S1637G	Ovarian(131;96 1741 5634 7352 27489)	.											.	.	.	0			c.A4909G						.						199	148	165					8																	103299709		2203	4300	6503	SO:0001583	missense	51366	exon37			GCCCACTAGCATT	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.4909A>G	8.37:g.103299709T>C	ENSP00000429084:p.Ser1637Gly	26	0		27	10	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	32	5.147472	0.94603	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.48836	0.8;0.8;0.8	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	L	0.50333	1.59	0.80722	D	1	P;P	0.49447	0.924;0.924	P;P	0.60682	0.878;0.878	T	0.60052	-0.7338	10	0.46703	T	0.11	.	16.4245	0.83810	0.0:0.0:0.0:1.0	.	1631;1637	E7EMW7;O95071	.;UBR5_HUMAN	G	1637;1637;1631	ENSP00000429084:S1637G;ENSP00000220959:S1637G;ENSP00000427819:S1631G	ENSP00000220959:S1637G	S	-	1	0	UBR5	103368885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.283000	0.76528	0.533000	0.62120	AGT	.		0.438	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		C	103299709	T	C	103299709	3	2	24	1	0	0	0	0	1	0	0	0	16954	1522	53	4	3582	4	UBR5	8	103299709	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	15844775	103299709	43064313	407	3554	30	2									
UBR5	51366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	103299714	103299714	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:103299714T>G	ENST00000520539.1	-	37	5510	c.4904A>C	c.(4903-4905)aAt>aCt	p.N1635T	UBR5_ENST00000521922.1_Missense_Mutation_p.N1629T|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.N1635T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1635					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)			CCCACTAGCATTATCTTGGTT	0.433																																					p.N1635T	Ovarian(131;96 1741 5634 7352 27489)	.											.	.	.	0			c.A4904C						.						202	150	168					8																	103299714		2203	4300	6503	SO:0001583	missense	51366	exon37			CTAGCATTATCTT	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.4904A>C	8.37:g.103299714T>G	ENSP00000429084:p.Asn1635Thr	26	0		26	10	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238025	0.79800	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44482	0.93;0.93;0.92	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	L	0.36672	1.1	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.67900	0.954;0.954	T	0.49011	-0.8983	10	0.35671	T	0.21	.	16.4245	0.83810	0.0:0.0:0.0:1.0	.	1629;1635	E7EMW7;O95071	.;UBR5_HUMAN	T	1635;1635;1629	ENSP00000429084:N1635T;ENSP00000220959:N1635T;ENSP00000427819:N1629T	ENSP00000220959:N1635T	N	-	2	0	UBR5	103368890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.283000	0.76528	0.533000	0.62120	AAT	.		0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103299714	T	G	103299714	3	3	24	1	0	0	0	0	1	0	0	0	16954	1493	52	4	3587	4	UBR5	8	103299714	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5	103299714	43064308	408	3555	30	2									
EIF3H	8667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	117767993	117767994	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GA	GA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:117767993_117767994GA>TT	ENST00000276682.4	-	3	851_852	c.85_86TC>AA	c.(85-87)TCc>AAc	p.S29N	EIF3H_ENST00000521861.1_Missense_Mutation_p.S15N					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGTGGAGCTGGAAGAGGTGGCA	0.564																																					p.S29N		.											.	.	.	0			c.T43A						.																																			SO:0001583	missense	8667	exon1			AGCTGGAAGAGGT	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.85_86delinsTT	8.37:g.117767993_117767994delinsTT	ENSP00000276682:p.Ser29Asn	52	0		32	11	NM_003756		Missense_Mutation	DNP	ENST00000276682.4	37																																																																																				.		0.564	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		TT	117767994	GA	TT	117767993	3	4	24	1	0	0	0	0	1	0	0	0	5034	1174	41	3	1046	3	EIF3H	8	117767993	Missense_Mutation	DNP	GA	TCGA-W5-AA39-01A-11D-A417-09	14468279	117767993	28596029	409	3556											
TAF2	6873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	120754808	120754808	+	Silent	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:120754808G>C	ENST00000378164.2	-	25	3601	c.3303C>G	c.(3301-3303)ccC>ccG	p.P1101P		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1101					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)			AACTCCACTGGGGTTTTGTGG	0.413																																					p.P1101P		.											.	.	.	0			c.C3303G						.						63	61	62					8																	120754808		2203	4300	6503	SO:0001819	synonymous_variant	6873	exon25			CCACTGGGGTTTT	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.3303C>G	8.37:g.120754808G>C		151	0		93	18	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	CCDS34937.1																																																																																			.		0.413	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		C	120754808	G	C	120754808	2	2	24	1	0	0	0	0	0	0	0	1	15571	1219	43	5		5	TAF2	8	120754808	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2986815	120754808	25609214	410	3557											
MTBP	27085	hgsc.bcm.edu	37	8	121519076	121519076	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:121519076C>T	ENST00000305949.1	+	16	1903	c.1858C>T	c.(1858-1860)Ctt>Ttt	p.L620F		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	620	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CATTGGAGATCTTCAACCTTT	0.358																																					p.L620F		.											MTBP,NS,carcinoma,0,1	MTBP	0	0			c.C1858T						.						84	81	82					8																	121519076		2203	4300	6503	SO:0001583	missense	27085	exon16			GGAGATCTTCAAC		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1858C>T	8.37:g.121519076C>T	ENSP00000303398:p.Leu620Phe	83	0		66	3	NM_022045	B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292136	0.40594	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.79964	0.4537	M	0.76328	2.33	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.82250	-0.0550	9	0.72032	D	0.01	-19.3702	18.6686	0.91501	0.0:1.0:0.0:0.0	.	620	Q96DY7	MTBP_HUMAN	F	620	.	ENSP00000303398:L620F	L	+	1	0	MTBP	121588257	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	3.957000	0.56730	2.431000	0.82371	0.313000	0.20887	CTT	.		0.358	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		T	121519076	C	T	121519076	3	4	24	1	0	0	0	0	1	0	0	0	9950	913	32	3	1920	3	MTBP	8	121519076	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	764268	121519076	24844946	411	3558											
ZHX2	22882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	123965153	123965153	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:123965153A>C	ENST00000314393.4	+	3	2238	c.1403A>C	c.(1402-1404)gAg>gCg	p.E468A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	468	Required for interaction with NFYA.				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)			GACGATGCCGAGGTTTACCGG	0.567																																					p.E468A	Esophageal Squamous(94;1056 1388 11767 13799 49639)	.											.	.	.	0			c.A1403C						.						96	100	98					8																	123965153		2203	4300	6503	SO:0001583	missense	22882	exon3			ATGCCGAGGTTTA	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.1403A>C	8.37:g.123965153A>C	ENSP00000314709:p.Glu468Ala	16	0		16	5	NM_014943		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892150	0.72524	.	.	ENSG00000178764	ENST00000314393	D	0.93488	-3.23	5.94	5.94	0.96194	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.102836	0.64402	D	0.000004	D	0.95749	0.8617	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96101	0.9069	10	0.72032	D	0.01	-23.4284	16.3979	0.83621	1.0:0.0:0.0:0.0	.	468	Q9Y6X8	ZHX2_HUMAN	A	468	ENSP00000314709:E468A	ENSP00000314709:E468A	E	+	2	0	ZHX2	124034334	1.000000	0.71417	0.997000	0.53966	0.779000	0.44077	7.161000	0.77505	2.279000	0.76181	0.459000	0.35465	GAG	.		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		C	123965153	A	C	123965153	3	2	24	1	0	0	0	0	1	0	0	0	17724	304	11	4	1405	4	ZHX2	8	123965153	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2446077	123965153	22398869	412	3559											
FER1L6	654463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	125110056	125110056	+	Silent	SNP	T	T	G	rs372723456		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:125110056T>G	ENST00000522917.1	+	37	5021	c.4815T>G	c.(4813-4815)acT>acG	p.T1605T	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.T1605T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1605	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					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)			TCTGGAACACTGAAGATGTCA	0.418																																					p.T1605T		.											.	.	.	0			c.T4815G						.						111	104	106					8																	125110056		1962	4160	6122	SO:0001819	synonymous_variant	654463	exon37			GAACACTGAAGAT	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.4815T>G	8.37:g.125110056T>G		50	0		36	16	NM_001039112		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																			.		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		G	125110056	T	G	125110056	2	3	24	1	0	0	0	0	0	0	0	1	5837	1567	55	4		4	FER1L6	8	125110056	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1144903	125110056	21253966	413	3560											
PHF20L1	51105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	133858086	133858086	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:133858086T>C	ENST00000395386.2	+	21	3271	c.2972T>C	c.(2971-2973)tTg>tCg	p.L991S	PHF20L1_ENST00000395390.2_Missense_Mutation_p.L966S|PHF20L1_ENST00000220847.7_Missense_Mutation_p.L378S|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	991							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)			CTTGCAAGATTGCCCCAACTT	0.413																																					p.L991S		.											.	.	.	0			c.T2972C						.						109	100	103					8																	133858086		1899	4111	6010	SO:0001583	missense	51105	exon21			CAAGATTGCCCCA	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.2972T>C	8.37:g.133858086T>C	ENSP00000378784:p.Leu991Ser	65	0		19	7	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757211	0.69648	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.56776	0.47;0.44	5.4	5.4	0.78164	.	0.310769	0.21975	U	0.066383	T	0.72423	0.3458	M	0.73962	2.25	0.40764	D	0.98303	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.76735	-0.2850	10	0.87932	D	0	.	14.8926	0.70620	0.0:0.0:0.0:1.0	.	966;991	F8W9L8;A8MW92	.;P20L1_HUMAN	S	991;378;966	ENSP00000378784:L991S;ENSP00000378788:L966S	ENSP00000220847:L378S	L	+	2	0	PHF20L1	133927268	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.178000	0.69098	0.533000	0.62120	TTG	.		0.413	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		C	133858086	T	C	133858086	3	2	24	1	0	0	0	0	1	0	0	0	11871	1821	63	4	3146	4	PHF20L1	8	133858086	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	8748030	133858086	12505936	414	3561											
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	139815133	139815133	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:139815133C>T	ENST00000303045.6	-	11	1985	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	COL22A1_ENST00000435777.1_Silent_p.K513K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	513	Collagen-like 1.|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)			CTTTCTCTCCCTTAGGTCCAG	0.587										HNSCC(7;0.00092)																											p.K513K		.											.	.	.	0			c.G1539A						.						153	128	136					8																	139815133		2203	4300	6503	SO:0001819	synonymous_variant	169044	exon11			CTCTCCCTTAGGT	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.1539G>A	8.37:g.139815133C>T		38	0		28	13	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																			.		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139815133	C	T	139815133	2	4	24	1	0	0	0	0	0	0	0	1	3688	680	24	3		3	COL22A1	8	139815133	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5957047	139815133	6548889	415	3562											
TRAPPC9	83696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	141415702	141415702	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:141415702T>A	ENST00000438773.2	-	6	1115	c.982A>T	c.(982-984)Aaa>Taa	p.K328*	TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.K319*|TRAPPC9_ENST00000389328.4_Nonsense_Mutation_p.K426*	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	328					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						ATCGCCTCTTTATACTTGTCA	0.408																																					p.K426X		.											.	.	.	0			c.A1276T						.						155	132	140					8																	141415702		2203	4300	6503	SO:0001587	stop_gained	83696	exon6			CCTCTTTATACTT	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.982A>T	8.37:g.141415702T>A	ENSP00000405060:p.Lys328*	67	0		38	16	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Nonsense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.163705|5.163705	0.94727|0.94727	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	14.9535|14.9535	0.71094|0.71094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	426;319;328|171	.|.	ENSP00000373978:K319X|.	K|X	-|-	1|2	0|2	TRAPPC9|TRAPPC9	141484884|141484884	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.969000|0.969000	0.65631|0.65631	5.284000|5.284000	0.65627|0.65627	2.175000|2.175000	0.68902|0.68902	0.533000|0.533000	0.62120|0.62120	AAA|TAA	.		0.408	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		A	141415702	T	A	141415702	4	1	24	1	0	0	0	0	0	1	0	0	16513	1763	61	5	2536	5	TRAPPC9	8	141415702	Nonsense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1600569	141415702	4948320	416	3563											
PTK2	5747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	141669627	141669627	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:141669627T>G	ENST00000522684.1	-	32	3326	c.3097A>C	c.(3097-3099)Aac>Cac	p.N1033H	PTK2_ENST00000521059.1_Missense_Mutation_p.N1033H|PTK2_ENST00000535192.1_Missense_Mutation_p.N987H|PTK2_ENST00000517712.1_Missense_Mutation_p.N96H|PTK2_ENST00000395218.2_Missense_Mutation_p.N1046H|PTK2_ENST00000519419.1_Missense_Mutation_p.N1077H|PTK2_ENST00000517887.1_Missense_Mutation_p.N1077H|PTK2_ENST00000340930.3_Missense_Mutation_p.N1046H|PTK2_ENST00000430260.2_Missense_Mutation_p.N343H|PTK2_ENST00000538769.1_Missense_Mutation_p.N701H|PTK2_ENST00000519465.1_Missense_Mutation_p.N661H	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	1033	Interaction with ARHGEF28. {ECO:0000250}.|Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|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 ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCGAGTAAGTTTTTGGCATCC	0.507																																					p.N1055H		.											.	.	.	0			c.A3163C						.						182	134	150					8																	141669627		2203	4300	6503	SO:0001583	missense	5747	exon32			GTAAGTTTTTGGC	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.3097A>C	8.37:g.141669627T>G	ENSP00000429911:p.Asn1033His	45	0		21	9	NM_005607	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.538503|4.538503	0.85917|0.85917	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000517712;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986;ENST00000523435	T|T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139|0.47869	0.79|0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Focal adhesion kinase, targeting (FAT) domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70369|0.70369	0.3216|0.3216	M|M	0.78049|0.78049	2.395|2.395	0.53688|0.53688	D|D	0.999973|0.999973	.|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	.|D;D;D;D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	T|T	0.74490|0.74490	-0.3648|-0.3648	7|10	0.46703|0.87932	T|D	0.11|0	.|.	16.2142|16.2142	0.82195|0.82195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1046;731;956;1033;1055;987;988;860;701;661	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.|.;.;.;FAK1_HUMAN;.;.;.;.;.;.	T|H	997|1033;987;661;1077;1033;988;1046;957;731;96;705;1046;701;1077;343;734;107	ENSP00000429929:K997T|ENSP00000429911:N1033H;ENSP00000438009:N987H;ENSP00000429170:N661H;ENSP00000429082:N1077H;ENSP00000429474:N1033H;ENSP00000378644:N1046H;ENSP00000430916:N96H;ENSP00000428492:N705H;ENSP00000341189:N1046H;ENSP00000445742:N701H;ENSP00000429129:N1077H;ENSP00000403416:N343H;ENSP00000430603:N734H;ENSP00000430828:N107H	ENSP00000429929:K997T|ENSP00000341189:N1046H	K|N	-|-	2|1	0|0	PTK2|PTK2	141738809|141738809	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	7.782000|7.782000	0.85680|0.85680	2.230000|2.230000	0.72887|0.72887	0.529000|0.529000	0.55759|0.55759	AAA|AAC	.		0.507	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		G	141669627	T	G	141669627	3	3	24	1	0	0	0	0	1	0	0	0	12805	1841	64	4	65	4	PTK2	8	141669627	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	253925	141669627	4694395	417	3564											
RHPN1	114822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	144462004	144462004	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:144462004A>G	ENST00000289013.6	+	9	1052	c.951A>G	c.(949-951)gcA>gcG	p.A317A		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	317	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)			GGCAGGTGGCAGCCGAGTACA	0.662																																					p.A317A		.											.	.	.	0			c.A951G						.						18	28	25					8																	144462004		2080	4153	6233	SO:0001819	synonymous_variant	114822	exon9			GGTGGCAGCCGAG	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.951A>G	8.37:g.144462004A>G		45	0		37	20	NM_052924	Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	CCDS47927.1																																																																																			.		0.662	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			G	144462004	A	G	144462004	2	3	24	1	0	0	0	0	0	0	0	1	13395	175	7	4		4	RHPN1	8	144462004	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2792377	144462004	1902018	418	3565											
PARP10	84875	broad.mit.edu	37	8	145059959	145059959	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:145059959A>C	ENST00000313028.7	-	3	460	c.366T>G	c.(364-366)ccT>ccG	p.P122P	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Silent_p.P134P|PARP10_ENST00000524918.1_Silent_p.P122P	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	122					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)			AGGCACAGCAAGGCTGTACTG	0.687																																					p.P122P													.	PARP10	57	0			c.T366G						.						23	29	27					8																	145059959		2133	4248	6381	SO:0001819	synonymous_variant	84875	exon3			ACAGCAAGGCTGT	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.366T>G	8.37:g.145059959A>C		30	0		19	3	NM_032789	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	CCDS34960.1																																																																																			.		0.687	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		C	145059959	A	C	145059959	2	2	24	1	0	0	0	0	0	0	0	1	11494	59	3	4		4	PARP10	8	145059959	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	597955	145059959	1304063	419	3566											
CYC1	1537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	145151139	145151139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:145151139G>T	ENST00000318911.4	+	3	512	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	147	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAAGCTAAGGAGCTGGCTGC	0.622											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E147X		.											.	.	.	0			c.G439T						.						147	159	155					8																	145151139		2203	4300	6503	SO:0001587	stop_gained	1537	exon3			GCTAAGGAGCTGG	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.439G>T	8.37:g.145151139G>T	ENSP00000317159:p.Glu147*	38	0	1692	22	7	NM_001916	Q5U062|Q6FHS7	Nonsense_Mutation	SNP	ENST00000318911.4	37	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715908	0.48622	.	.	ENSG00000179091	ENST00000318911	.	.	.	4.34	4.34	0.51931	.	0.213849	0.39834	N	0.001255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.7161	12.2253	0.54457	0.0:0.0:1.0:0.0	.	.	.	.	X	147	.	ENSP00000317159:E147X	E	+	1	0	CYC1	145223127	1.000000	0.71417	0.197000	0.23402	0.112000	0.19704	1.735000	0.38176	2.266000	0.75297	0.561000	0.74099	GAG	.		0.622	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		T	145151139	G	T	145151139	4	4	24	1	0	0	0	0	0	1	0	0	4144	1175	41	3	449	3	CYC1	8	145151139	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	91180	145151139	1212883	420	3567											
DGAT1	8694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	145541987	145541987	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:145541987A>C	ENST00000332324.4	-	7	886	c.613T>G	c.(613-615)Ttc>Gtc	p.F205V	DGAT1_ENST00000527438.1_5'Flank|DGAT1_ENST00000531896.1_Missense_Mutation_p.F205V	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	205					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTTGAGGAAGAGGATGGTG	0.692																																					p.F205V		.											.	.	.	0			c.T613G						.						36	35	35					8																	145541987		2203	4295	6498	SO:0001583	missense	8694	exon7			TGAGGAAGAGGAT	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.613T>G	8.37:g.145541987A>C	ENSP00000332258:p.Phe205Val	30	0		19	6	NM_012079	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740525	0.89573	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T	0.71341	-0.56	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	L	0.60904	1.88	0.58432	D	0.999999	D;P	0.69078	0.997;0.951	D;P	0.69307	0.963;0.801	T	0.82303	-0.0524	10	0.72032	D	0.01	-23.1006	13.4781	0.61320	1.0:0.0:0.0:0.0	.	205;205	E9PS80;O75907	.;DGAT1_HUMAN	V	205	ENSP00000332258:F205V	ENSP00000332258:F205V	F	-	1	0	DGAT1	145512795	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.024000	0.57218	2.072000	0.62099	0.454000	0.30748	TTC	.		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		C	145541987	A	C	145541987	3	2	24	1	0	0	0	0	1	0	0	0	4471	72	3	4	897	4	DGAT1	8	145541987	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	390848	145541987	822035	421	3568											
CPSF1	29894	broad.mit.edu;bcgsc.ca	37	8	145618578	145618578	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:145618578G>A	ENST00000349769.3	-	38	4381	c.4287C>T	c.(4285-4287)atC>atT	p.I1429I	CPSF1_ENST00000531727.1_5'UTR|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1429					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)			AGTCGTCCAGGATCTGCAGGG	0.677																																					p.I1429I	NSCLC(133;1088 1848 27708 34777 35269)												.	CPSF1	92	0			c.C4287T						.						21	16	18					8																	145618578		2078	4055	6133	SO:0001819	synonymous_variant	29894	exon38			GTCCAGGATCTGC	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.4287C>T	8.37:g.145618578G>A		33	1		30	10	NM_013291	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																			.		0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145618578	G	A	145618578	2	1	24	1	0	0	0	0	0	0	0	1	3831	1164	41	3		3	CPSF1	8	145618578	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	76591	145618578	745444	422	3569											
CPSF1	29894	hgsc.bcm.edu;bcgsc.ca	37	8	145623960	145623960	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:145623960G>A	ENST00000349769.3	-	18	1801	c.1707C>T	c.(1705-1707)ggC>ggT	p.G569G	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	569					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)			CGTGTCTGCGGCCGTCGTCGT	0.682																																					p.G569G	NSCLC(133;1088 1848 27708 34777 35269)	.											.	.	.	0			c.C1707T						.						104	105	105					8																	145623960		2203	4300	6503	SO:0001819	synonymous_variant	29894	exon18			TCTGCGGCCGTCG	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.1707C>T	8.37:g.145623960G>A		97	0		71	4	NM_013291	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																			.		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145623960	G	A	145623960	2	1	24	1	0	0	0	0	0	0	0	1	3831	1190	42	3		3	CPSF1	8	145623960	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	5382	145623960	740062	423	3570											
PPP1R16A	84988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	145725522	145725522	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:145725522T>A	ENST00000292539.4	+	5	1437	c.520T>A	c.(520-522)Tat>Aat	p.Y174N	GPT_ENST00000528431.1_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.Y174N			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	174						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	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)			GAACATGCCCTATGACCTGTG	0.672																																					p.Y174N		.											.	.	.	0			c.T520A						.						127	81	97					8																	145725522		2200	4298	6498	SO:0001583	missense	84988	exon4			ATGCCCTATGACC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.520T>A	8.37:g.145725522T>A	ENSP00000292539:p.Tyr174Asn	66	0		42	14	NM_032902	D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835988	0.91117	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.53206	0.63;0.63	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68640	-0.5355	10	0.87932	D	0	.	13.1298	0.59375	0.0:0.0:0.0:1.0	.	174	Q96I34	PP16A_HUMAN	N	174	ENSP00000292539:Y174N;ENSP00000391126:Y174N	ENSP00000292539:Y174N	Y	+	1	0	PPP1R16A	145696330	0.993000	0.37304	0.983000	0.44433	0.837000	0.47467	2.768000	0.47645	1.996000	0.58369	0.459000	0.35465	TAT	.		0.672	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		A	145725522	T	A	145725522	3	1	24	1	0	0	0	0	1	0	0	0	12407	1522	53	5	534	5	PPP1R16A	8	145725522	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	101562	145725522	638500	424	3571											
C8orf33	65265	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	146277985	146277985	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr8:146277985T>C	ENST00000331434.6	+	2	134	c.20T>C	c.(19-21)cTt>cCt	p.L7P		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	7										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	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;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CTGGGACATCTTGCTGGGGAG	0.701																																					p.L7P		.											.	.	.	0			c.T20C						.						50	66	60					8																	146277985		2203	4299	6502	SO:0001583	missense	65265	exon2			GACATCTTGCTGG		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.20T>C	8.37:g.146277985T>C	ENSP00000330361:p.Leu7Pro	91	0		78	28	NM_023080	A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452768	0.26074	.	.	ENSG00000182307	ENST00000331434	.	.	.	2.87	1.91	0.25777	.	0.201576	0.28989	N	0.013483	T	0.05914	0.0154	N	0.00289	-1.7	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.38286	-0.9668	8	.	.	.	0.0066	5.8167	0.18495	0.0:0.8446:0.0:0.1554	.	7	Q9H7E9	CH033_HUMAN	P	7	.	.	L	+	2	0	C8orf33	146248789	0.000000	0.05858	0.051000	0.19133	0.050000	0.14768	-0.243000	0.08915	0.743000	0.32719	-0.182000	0.12963	CTT	.		0.701	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		C	146277985	T	C	146277985	3	2	24	1	0	0	0	0	1	0	0	0	2428	1609	56	4	26	4	C8orf33	8	146277985	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	552463	146277985	86037	425	3572											
IL33	90865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	6254494	6254494	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:6254494A>C	ENST00000381434.3	+	6	566	c.553A>C	c.(553-555)Acc>Ccc	p.T185P	IL33_ENST00000417746.2_Missense_Mutation_p.T59P|IL33_ENST00000456383.2_Missense_Mutation_p.T143P	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	185					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|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 type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTTAATGGTAACCCTGAGTCC	0.303																																					p.T185P		.											.	.	.	0			c.A553C						.						76	74	75					9																	6254494		2203	4300	6503	SO:0001583	missense	90865	exon7			ATGGTAACCCTGA	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.553A>C	9.37:g.6254494A>C	ENSP00000370842:p.Thr185Pro	73	0		34	16	NM_033439	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	A	9.992	1.231057	0.22626	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.46451	0.87;0.87;0.87	4.71	2.2	0.27929	.	0.868933	0.10081	N	0.718491	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B;B;B	0.29552	0.051;0.248;0.248	B;B;B	0.28139	0.058;0.086;0.086	T	0.17349	-1.0372	10	0.56958	D	0.05	-11.3276	4.5547	0.12131	0.7027:0.1961:0.1013:0.0	.	59;143;185	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	P	59;143;185	ENSP00000394039:T59P;ENSP00000414238:T143P;ENSP00000370842:T185P	ENSP00000370842:T185P	T	+	1	0	IL33	6244494	0.840000	0.29493	0.218000	0.23776	0.777000	0.43975	1.454000	0.35178	0.929000	0.37192	-0.274000	0.10170	ACC	.		0.303	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		C	6254494	A	C	6254494	3	2	24	1	0	0	0	0	1	0	0	0	7720	43	2	4	575	4	IL33	9	6254494	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09		6254494	134958937	426	3573											
TYRP1	7306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	12708981	12708981	+	Silent	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:12708981G>T	ENST00000388918.5	+	8	1542	c.1413G>T	c.(1411-1413)cgG>cgT	p.R471R	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Silent_p.R181R|TYRP1_ENST00000381137.2_Silent_p.R180R|TYRP1_ENST00000473504.1_3'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	471					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)		AAATAGGTCGGGAGTTTAGTG	0.353									Oculocutaneous Albinism																												p.R471R		.											.	.	.	0			c.G1413T						.						139	130	133					9																	12708981		2202	4300	6502	SO:0001819	synonymous_variant	7306	exon8	Familial Cancer Database		AGGTCGGGAGTTT	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.1413G>T	9.37:g.12708981G>T		40	0		30	17	NM_000550	P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	CCDS34990.1																																																																																			.		0.353	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		T	12708981	G	T	12708981	2	4	24	1	0	0	0	0	0	0	0	1	16865	1219	43	3		3	TYRP1	9	12708981	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	6454487	12708981	128504450	427	3574											
MPDZ	8777	hgsc.bcm.edu;bcgsc.ca	37	9	13175817	13175837	+	In_Frame_Del	DEL	GCATGACACACTCAGCATTAC	GCATGACACACTCAGCATTAC	-	rs374056827|rs371781743|rs367967232		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GCATGACACACTCAGCATTAC	GCATGACACACTCAGCATTAC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:13175817_13175837delGCATGACACACTCAGCATTAC	ENST00000319217.7	-	21	3216_3236	c.2969_2989delGTAATGCTGAGTGTGTCATGC	c.(2968-2991)tgtaatgctgagtgtgtcatgctt>ttt	p.990_997CNAECVML>F	MPDZ_ENST00000541718.1_In_Frame_Del_p.990_997CNAECVML>F|MPDZ_ENST00000536827.1_In_Frame_Del_p.990_997CNAECVML>F|MPDZ_ENST00000381015.4_In_Frame_Del_p.990_997CNAECVML>F|MPDZ_ENST00000447879.1_In_Frame_Del_p.990_997CNAECVML>F|MPDZ_ENST00000381022.2_In_Frame_Del_p.990_997CNAECVML>F|MPDZ_ENST00000546205.1_In_Frame_Del_p.990_997CNAECVML>F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	990					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)		ACATTTTGAAGCATGACACACTCAGCATTACAGGCCAGGGA	0.394																																					p.990_997del		.											.	.	.	0			c.2970_2990del						.																																			SO:0001651	inframe_deletion	8777	exon21			TTTGAAGCATGAC	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.2969_2989delGTAATGCTGAGTGTGTCATGC	9.37:g.13175817_13175837delGCATGACACACTCAGCATTAC	ENSP00000320006:p.Cys990_Leu997delinsPhe	84	0		42	0	NM_001261406	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	In_Frame_Del	DEL	ENST00000319217.7	37																																																																																				.		0.394	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		-	13175837	GCATGACACACTCAGCATTAC	-	13175817	7	5	24	1	0	1	0	1	0	0	0	0	9760	971	34	0	3240	0	MPDZ	9	13175817	In_Frame_Del	DEL	GCATGACACACTCAGCATTAC	TCGA-W5-AA39-01A-11D-A417-09	466836	13175817	128037614	428	3575											
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	13176276	13176276	+	Silent	SNP	A	A	G	rs540572504		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:13176276A>G	ENST00000319217.7	-	20	3037	c.2790T>C	c.(2788-2790)acT>acC	p.T930T	MPDZ_ENST00000541718.1_Silent_p.T930T|MPDZ_ENST00000536827.1_Silent_p.T930T|MPDZ_ENST00000381015.4_Silent_p.T930T|MPDZ_ENST00000447879.1_Silent_p.T930T|MPDZ_ENST00000381022.2_Silent_p.T930T|MPDZ_ENST00000546205.1_Silent_p.T930T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	930					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)		AGTCATTTATAGTAAAGCCAG	0.388													A|||	1	0.000199681	0	0.0014	5008	,	,		18196	0		0	False		,,,				2504	0				p.T930T		.											.	.	.	0			c.T2790C						.						114	98	103					9																	13176276		1871	4114	5985	SO:0001819	synonymous_variant	8777	exon20			ATTTATAGTAAAG	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.2790T>C	9.37:g.13176276A>G		81	0		44	22	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																				.		0.388	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		G	13176276	A	G	13176276	2	3	24	1	0	0	0	0	0	0	0	1	9760	407	15	4		4	MPDZ	9	13176276	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	459	13176276	128037155	429	3576											
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	13190124	13190124	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:13190124A>C	ENST00000319217.7	-	16	2390	c.2143T>G	c.(2143-2145)Tta>Gta	p.L715V	MPDZ_ENST00000541718.1_Missense_Mutation_p.L715V|MPDZ_ENST00000536827.1_Missense_Mutation_p.L715V|MPDZ_ENST00000381015.4_Missense_Mutation_p.L715V|MPDZ_ENST00000447879.1_Missense_Mutation_p.L715V|MPDZ_ENST00000381022.2_Missense_Mutation_p.L715V|MPDZ_ENST00000546205.1_Missense_Mutation_p.L715V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	715	PDZ 5. {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)		TGATAATCTAAAATGCTAAAA	0.378																																					p.L715V		.											.	.	.	0			c.T2143G						.						59	55	57					9																	13190124		1908	4125	6033	SO:0001583	missense	8777	exon16			AATCTAAAATGCT	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.2143T>G	9.37:g.13190124A>C	ENSP00000320006:p.Leu715Val	51	0		36	16	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	A	17.60	3.429925	0.62844	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85	6.07	6.07	0.98685	.	0.000000	0.36972	N	0.002318	T	0.33440	0.0863	N	0.11756	0.17	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	0.22977	-1.0201	10	0.30854	T	0.27	.	16.3141	0.82909	1.0:0.0:0.0:0.0	.	715;715;715	B7ZMI4;O75970-3;O75970-2	.;.;.	V	715;715;715;715;715;715;665;715	ENSP00000320006:L715V;ENSP00000439807:L715V;ENSP00000370410:L715V;ENSP00000444151:L715V;ENSP00000415208:L715V;ENSP00000370403:L715V;ENSP00000446358:L715V	ENSP00000320006:L715V	L	-	1	2	MPDZ	13180124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.094000	0.41719	2.326000	0.78906	0.533000	0.62120	TTA	.		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13190124	A	C	13190124	3	2	24	1	0	0	0	0	1	0	0	0	9760	11	1	4	4106	4	MPDZ	9	13190124	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	13848	13190124	128023307	430	3577											
MPDZ	8777	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	13190162	13190162	+	Missense_Mutation	SNP	T	T	C	rs4740548	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:13190162T>C	ENST00000319217.7	-	16	2352	c.2105A>G	c.(2104-2106)gAg>gGg	p.E702G	MPDZ_ENST00000541718.1_Missense_Mutation_p.E702G|MPDZ_ENST00000536827.1_Missense_Mutation_p.E702G|MPDZ_ENST00000381015.4_Missense_Mutation_p.E702G|MPDZ_ENST00000447879.1_Missense_Mutation_p.E702G|MPDZ_ENST00000381022.2_Missense_Mutation_p.E702G|MPDZ_ENST00000546205.1_Missense_Mutation_p.E702G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	702	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.		E -> K (in dbSNP:rs4741289).|E -> V (in dbSNP:rs4740548).		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)		TTTCTCCAGCTCTATGTGCTG	0.438																																					p.E702G		.											.	.	.	0			c.A2105G						.						72	69	70					9																	13190162		2002	4182	6184	SO:0001583	missense	8777	exon16			TCCAGCTCTATGT	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.2105A>G	9.37:g.13190162T>C	ENSP00000320006:p.Glu702Gly	50	0		31	20	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	21.6	4.172316	0.78452	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.83	4.68	0.58851	.	0.000000	0.44285	D	0.000475	T	0.53706	0.1813	M	0.90252	3.1	0.80722	D	1	D;D;D	0.69078	0.986;0.982;0.997	P;P;P	0.58172	0.834;0.744;0.804	T	0.59783	-0.7389	10	0.72032	D	0.01	.	8.1209	0.30971	0.1341:0.0:0.1404:0.7255	.	702;702;702	B7ZMI4;O75970-3;O75970-2	.;.;.	G	702;702;702;702;702;702;652;702	ENSP00000320006:E702G;ENSP00000439807:E702G;ENSP00000370410:E702G;ENSP00000444151:E702G;ENSP00000415208:E702G;ENSP00000370403:E702G;ENSP00000446358:E702G	ENSP00000320006:E702G	E	-	2	0	MPDZ	13180162	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	5.808000	0.69165	1.016000	0.39470	0.533000	0.62120	GAG	.		0.438	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13190162	T	C	13190162	3	2	24	1	0	0	0	0	1	0	0	0	9760	1551	54	4	4144	4	MPDZ	9	13190162	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	38	13190162	128023269	431	3578											
TTC39B	158219	bcgsc.ca	37	9	15307282	15307282	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:15307282T>G	ENST00000512701.2	-	1	76	c.40A>C	c.(40-42)Aat>Cat	p.N14H	TTC39B_ENST00000297615.5_Missense_Mutation_p.N14H|TTC39B_ENST00000541445.1_5'Flank|TTC39B_ENST00000380850.4_Missense_Mutation_p.N14H|TTC39B_ENST00000355694.2_5'UTR			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	14										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GCTACTCGATTTCCCCGCCCC	0.751																																					p.N14H													.	TTC39B	83	0			c.A40C						.						6	9	8					9																	15307282		687	1578	2265	SO:0001583	missense	158219	exon1			CTCGATTTCCCCG	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.40A>C	9.37:g.15307282T>G	ENSP00000422496:p.Asn14His	20	0		14	8	NM_001168340	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560474	0.65538	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000512701	T;T;T	0.54279	1.38;0.58;1.38	3.96	-0.361	0.12564	.	.	.	.	.	T	0.29491	0.0735	N	0.08118	0	0.31448	N	0.671179	.	.	.	.	.	.	T	0.33828	-0.9853	7	0.66056	D	0.02	.	3.7437	0.08540	0.0:0.2639:0.2865:0.4496	.	.	.	.	H	14	ENSP00000370231:N14H;ENSP00000297615:N14H;ENSP00000422496:N14H	ENSP00000297615:N14H	N	-	1	0	TTC39B	15297282	0.475000	0.25894	0.457000	0.27056	0.161000	0.22273	-0.233000	0.09041	-0.153000	0.11137	0.260000	0.18958	AAT	.		0.751	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		G	15307282	T	G	15307282	3	3	24	1	0	0	0	0	1	0	0	0	16757	1841	64	4	2109	4	TTC39B	9	15307282	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2117120	15307282	125906149	432	3579											
CNTLN	54875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	17273829	17273829	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:17273829A>C	ENST00000380647.3	+	6	1032	c.948A>C	c.(946-948)gaA>gaC	p.E316D	CNTLN_ENST00000262360.5_Missense_Mutation_p.E316D|CNTLN_ENST00000380641.4_Missense_Mutation_p.E316D|CNTLN_ENST00000425824.1_Missense_Mutation_p.E316D			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	316					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)		AACAGACTGAACTTATCCAGA	0.308																																					p.E316D		.											.	.	.	0			c.A948C						.						110	110	110					9																	17273829		1837	4078	5915	SO:0001583	missense	54875	exon6			GACTGAACTTATC	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.948A>C	9.37:g.17273829A>C	ENSP00000370021:p.Glu316Asp	78	0		35	10	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.442009	0.43326	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.11495	2.77;2.77;3.0;2.77	4.73	3.49	0.39957	.	.	.	.	.	T	0.11965	0.0291	M	0.64997	1.995	0.30858	N	0.733787	B;B;B	0.31318	0.106;0.106;0.319	B;B;B	0.28991	0.097;0.097;0.069	T	0.03374	-1.1043	9	0.27082	T	0.32	.	9.7598	0.40526	0.8269:0.1731:0.0:0.0	.	316;316;316	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	D	316	ENSP00000370021:E316D;ENSP00000392798:E316D;ENSP00000262360:E316D;ENSP00000370015:E316D	ENSP00000262360:E316D	E	+	3	2	CNTLN	17263829	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.316000	0.33620	1.881000	0.54492	0.254000	0.18369	GAA	.		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		C	17273829	A	C	17273829	3	2	24	1	0	0	0	0	1	0	0	0	3646	40	2	4	970	4	CNTLN	9	17273829	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1966547	17273829	123939602	433	3580	31	2									
CNTLN	54875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	17273832	17273832	+	Silent	SNP	T	T	C	rs369987628		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:17273832T>C	ENST00000380647.3	+	6	1035	c.951T>C	c.(949-951)ctT>ctC	p.L317L	CNTLN_ENST00000262360.5_Silent_p.L317L|CNTLN_ENST00000380641.4_Silent_p.L317L|CNTLN_ENST00000425824.1_Silent_p.L317L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	317					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)		AGACTGAACTTATCCAGAAGG	0.303																																					p.L317L		.											.	.	.	0			c.T951C						.	T	,	1,3673		0,1,1836	110	109	109		951,951	-0.3	1	9		109	1,8153		0,1,4076	no	coding-synonymous,coding-synonymous	CNTLN	NM_001114395.1,NM_017738.2	,	0,2,5912	CC,CT,TT		0.0123,0.0272,0.0169	,	317/392,317/1407	17273832	2,11826	1837	4077	5914	SO:0001819	synonymous_variant	54875	exon6			TGAACTTATCCAG	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.951T>C	9.37:g.17273832T>C		78	0		36	10	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	CCDS43789.1																																																																																			.		0.303	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		C	17273832	T	C	17273832	2	2	24	1	0	0	0	0	0	0	0	1	3646	1741	61	4		4	CNTLN	9	17273832	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3	17273832	123939599	434	3581	31	2									
DENND4C	55667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	19316816	19316816	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:19316816G>T	ENST00000380432.2	+	8	1111	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y	DENND4C_ENST00000434457.2_Missense_Mutation_p.D596Y|DENND4C_ENST00000602925.1_Missense_Mutation_p.D596Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	360	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				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						CACAGCTGCTGATTCATTGTT	0.363																																					p.D596Y		.											.	.	.	0			c.G1786T						.						94	104	101					9																	19316816		2203	4300	6503	SO:0001583	missense	55667	exon12			GCTGCTGATTCAT	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.1078G>T	9.37:g.19316816G>T	ENSP00000369797:p.Asp360Tyr	42	0		28	13	NM_017925	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	G	18.42	3.620991	0.66787	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.13	5.13	0.70059	dDENN (3);	0.047414	0.85682	D	0.000000	T	0.75177	0.3814	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76854	-0.2805	9	0.72032	D	0.01	-20.6408	18.7716	0.91894	0.0:0.0:1.0:0.0	.	360	Q5VZ89	DEN4C_HUMAN	Y	360	.	ENSP00000369802:D360Y	D	+	1	0	DENND4C	19306816	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	4.515000	0.60489	2.672000	0.90937	0.460000	0.39030	GAT	.		0.363	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		T	19316816	G	T	19316816	3	4	24	1	0	0	0	0	1	0	0	0	4449	1290	45	3	1108	3	DENND4C	9	19316816	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2042984	19316816	121896615	435	3582											
ACO1	48	hgsc.bcm.edu	37	9	32429463	32429463	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:32429463G>T	ENST00000309951.6	+	13	1669	c.1531G>T	c.(1531-1533)Ggg>Tgg	p.G511W	ACO1_ENST00000379923.1_Missense_Mutation_p.G511W|ACO1_ENST00000541043.1_Missense_Mutation_p.G412W	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	511					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)		TGGCAACAGTGGGCCTTTACC	0.463																																					p.G511W		.											.	.	.	0			c.G1531T						.						194	155	168					9																	32429463		2203	4300	6503	SO:0001583	missense	48	exon13			AACAGTGGGCCTT	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.1531G>T	9.37:g.32429463G>T	ENSP00000309477:p.Gly511Trp	40	0		27	4	NM_002197	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542796	0.86022	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.49139	0.79;0.79;0.79	5.05	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89186	0.3547	10	0.87932	D	0	-12.6372	17.1827	0.86858	0.0:0.0:1.0:0.0	.	547;511	Q59FI0;P21399	.;ACOC_HUMAN	W	547;511;511;412	ENSP00000309477:G511W;ENSP00000369255:G511W;ENSP00000438733:G412W	ENSP00000309477:G511W	G	+	1	0	ACO1	32419463	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.869000	0.99810	2.355000	0.79922	0.455000	0.32223	GGG	.		0.463	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		T	32429463	G	T	32429463	3	4	24	1	0	0	0	0	1	0	0	0	146	1348	47	3	1577	3	ACO1	9	32429463	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	13112647	32429463	108783968	436	3583											
UBAP2	55833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	33927945	33927945	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:33927945A>C	ENST00000379238.1	-	20	2338	c.2221T>G	c.(2221-2223)Ttc>Gtc	p.F741V	UBAP2_ENST00000539807.1_Missense_Mutation_p.F496V|UBAP2_ENST00000379235.1_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.F741V|UBAP2_ENST00000360802.1_Missense_Mutation_p.F741V|UBAP2_ENST00000379239.4_Missense_Mutation_p.F474V|UBAP2_ENST00000418786.2_Silent_p.P665P					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)		GCCGTGGAGAAGGTGGCTGAG	0.617																																					p.F741V		.											.	.	.	0			c.T2221G						.						82	72	75					9																	33927945		2203	4300	6503	SO:0001583	missense	55833	exon20			TGGAGAAGGTGGC	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.2221T>G	9.37:g.33927945A>C	ENSP00000368540:p.Phe741Val	47	0		24	10	NM_018449		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508101	0.27036	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.57	5.57	0.84162	.	0.432253	0.29314	N	0.012504	T	0.38081	0.1027	M	0.74881	2.28	0.80722	D	1	P;P;P;P;B	0.35575	0.51;0.51;0.51;0.51;0.376	B;B;B;B;B	0.32864	0.154;0.154;0.154;0.154;0.073	T	0.24584	-1.0156	10	0.16896	T	0.51	-10.8851	15.3872	0.74711	1.0:0.0:0.0:0.0	.	666;496;474;650;741	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	V	741;741;741;650;474;496;177	ENSP00000368540:F741V;ENSP00000416932:F741V;ENSP00000354039:F741V;ENSP00000368541:F474V;ENSP00000439329:F496V	ENSP00000259602:F177V	F	-	1	0	UBAP2	33917945	1.000000	0.71417	0.995000	0.50966	0.057000	0.15508	5.019000	0.64060	2.119000	0.64992	0.533000	0.62120	TTC	.		0.617	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		C	33927945	A	C	33927945	3	2	24	1	0	0	0	0	1	0	0	0	16886	72	3	4	1178	4	UBAP2	9	33927945	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1498482	33927945	107285486	437	3584											
DNAI1	27019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	34500833	34500833	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:34500833T>C	ENST00000242317.4	+	11	1186	c.1015T>C	c.(1015-1017)Tgc>Cgc	p.C339R		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	339					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CACTGCCCTCTGCTGGTAAGT	0.552									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C339R		.											.	.	.	0			c.T1015C						.						58	58	58					9																	34500833		2203	4300	6503	SO:0001583	missense	27019	exon11	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCCCTCTGCTGGT	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1015T>C	9.37:g.34500833T>C	ENSP00000242317:p.Cys339Arg	48	0	848	33	10	NM_012144	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793100	0.50102	.	.	ENSG00000122735	ENST00000242317	T	0.76709	-1.04	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.233360	0.45606	D	0.000343	T	0.76644	0.4016	M	0.78049	2.395	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.72786	-0.4188	10	0.28530	T	0.3	.	12.9332	0.58299	0.0:0.0:0.0:1.0	.	339	Q9UI46	DNAI1_HUMAN	R	339	ENSP00000242317:C339R	ENSP00000242317:C339R	C	+	1	0	DNAI1	34490833	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.222000	0.78025	1.999000	0.58509	0.379000	0.24179	TGC	.		0.552	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			C	34500833	T	C	34500833	3	2	24	1	0	0	0	0	1	0	0	0	4623	1580	55	4	1057	4	DNAI1	9	34500833	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	572888	34500833	106712598	438	3585											
C9orf131	138724	broad.mit.edu;bcgsc.ca	37	9	35042287	35042287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:35042287delG	ENST00000312292.5	+	1	83	c.36delG	c.(34-36)aagfs	p.K12fs	C9orf131_ENST00000421362.2_Intron|C9orf131_ENST00000354479.5_Intron	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	12										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TTGGGGCTAAGGGGGATATGG	0.547																																					p.K12fs													.	C9orf131	71	0			c.36delG						.						45	43	44					9																	35042287		2203	4300	6503	SO:0001589	frameshift_variant	138724	exon1			GGCTAAGGGGGAT	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.36delG	9.37:g.35042287delG	ENSP00000308279:p.Lys12fs	32	0		18	8	NM_001040410	A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	CCDS6572.2																																																																																			.		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		-	35042287	G	-	35042287	7	5	24	1	0	1	0	1	0	0	0	0	2464	991	35	0	54	0	C9orf131	9	35042287	Frame_Shift_Del	DEL	G	TCGA-W5-AA39-01A-11D-A417-09	541454	35042287	106171144	439	3586											
NPR2	4882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35792667	35792667	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:35792667A>G	ENST00000342694.2	+	1	517	c.262A>G	c.(262-264)Aag>Gag	p.K88E		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	88					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)	TGTGGACCTCAAGCTGTACCA	0.662																																					p.K88E		.											.	.	.	0			c.A262G						.						113	103	107					9																	35792667		2203	4300	6503	SO:0001583	missense	4882	exon1			GACCTCAAGCTGT	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.262A>G	9.37:g.35792667A>G	ENSP00000341083:p.Lys88Glu	68	0		41	12	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015037	0.54468	.	.	ENSG00000159899	ENST00000342694	T	0.74002	-0.8	3.93	3.93	0.45458	Extracellular ligand-binding receptor (1);	0.000000	0.46442	D	0.000298	T	0.78400	0.4277	M	0.69358	2.11	0.53688	D	0.999971	B;P	0.52692	0.18;0.955	B;P	0.54759	0.2;0.76	T	0.76296	-0.3011	10	0.29301	T	0.29	.	10.9604	0.47383	1.0:0.0:0.0:0.0	.	88;88	P20594-2;P20594	.;ANPRB_HUMAN	E	88	ENSP00000341083:K88E	ENSP00000341083:K88E	K	+	1	0	NPR2	35782667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.289000	0.51747	1.773000	0.52216	0.460000	0.39030	AAG	.		0.662	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			G	35792667	A	G	35792667	3	3	24	1	0	0	0	0	1	0	0	0	10634	131	5	4	264	4	NPR2	9	35792667	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	750380	35792667	105420764	440	3587											
RECK	8434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	36091179	36091179	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:36091179T>G	ENST00000377966.3	+	10	1490	c.924T>G	c.(922-924)ctT>ctG	p.L308L		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	308	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCACTAAACTTTACAGCATGA	0.408																																					p.L308L		.											.	.	.	0			c.T924G						.						125	115	119					9																	36091179		2203	4300	6503	SO:0001819	synonymous_variant	8434	exon10			TAAACTTTACAGC	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.924T>G	9.37:g.36091179T>G		62	0		54	28	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	CCDS6597.1																																																																																			.		0.408	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			G	36091179	T	G	36091179	2	3	24	1	0	0	0	0	0	0	0	1	13245	1828	64	4		4	RECK	9	36091179	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	298512	36091179	105122252	441	3588											
C9orf85	138241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	74526743	74526743	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:74526743G>A	ENST00000377031.3	+	1	283	c.93G>A	c.(91-93)gtG>gtA	p.V31V	ABHD17B_ENST00000333421.6_5'Flank|C9orf85_ENST00000486911.2_Silent_p.V31V|C9orf85_ENST00000334731.2_Silent_p.V31V|ABHD17B_ENST00000377041.2_5'Flank			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	31	Lys-rich.									kidney(2)|large_intestine(1)|lung(4)	7						ATAAAAGTGTGCAGACCAAGG	0.522																																					p.V31V		.											.	.	.	0			c.G93A						.						124	117	119					9																	74526743		2203	4300	6503	SO:0001819	synonymous_variant	138241	exon1			AAGTGTGCAGACC	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.93G>A	9.37:g.74526743G>A		47	0		34	16	NM_182505	Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Silent	SNP	ENST00000377031.3	37																																																																																				.		0.522	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		A	74526743	G	A	74526743	2	1	24	1	0	0	0	0	0	0	0	1	2508	1306	46	3		3	C9orf85	9	74526743	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	38435564	74526743	66686688	442	3589											
TLE4	7091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	82188691	82188691	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:82188691C>G	ENST00000376552.2	+	2	1151	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	TLE4_ENST00000376520.4_Missense_Mutation_p.Q45E|TLE4_ENST00000376544.3_Missense_Mutation_p.Q45E|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.Q45E|TLE4_ENST00000265284.6_Missense_Mutation_p.Q45E	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	45	Gln-rich (Q domain).				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						TTTACAGGCTCAATACCACAG	0.418																																					p.Q45E		.											.	.	.	0			c.C133G						.						88	83	84					9																	82188691		1906	4123	6029	SO:0001583	missense	7091	exon2			CAGGCTCAATACC	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.133C>G	9.37:g.82188691C>G	ENSP00000365735:p.Gln45Glu	51	0		41	14	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218321	0.58560	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713	T;T;T;T;T;T;T;T;T	0.60672	0.24;0.17;0.17;0.54;2.53;0.17;0.44;0.53;0.98	4.7	4.7	0.59300	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.80859	0.4704	M	0.93808	3.46	0.80722	D	1	P;D;P	0.57257	0.941;0.979;0.953	P;P;P	0.61477	0.72;0.889;0.816	D	0.87055	0.2149	10	0.87932	D	0	-9.2223	17.6488	0.88157	0.0:1.0:0.0:0.0	.	45;45;45	F8W6T6;Q04727-2;Q04727	.;.;TLE4_HUMAN	E	45;45;45;45;45;45;45;45;43;30	ENSP00000365735:Q45E;ENSP00000365727:Q45E;ENSP00000365703:Q45E;ENSP00000415423:Q45E;ENSP00000397822:Q45E;ENSP00000365720:Q45E;ENSP00000265284:Q45E;ENSP00000412567:Q43E;ENSP00000409313:Q30E	ENSP00000265284:Q45E	Q	+	1	0	TLE4	81378511	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.550000	0.82173	2.162000	0.67917	0.462000	0.41574	CAA	.		0.418	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		G	82188691	C	G	82188691	3	3	24	1	0	0	0	0	1	0	0	0	15988	827	29	5	139	5	TLE4	9	82188691	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	7661948	82188691	59024740	443	3590											
DAPK1	1612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	90255340	90255340	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:90255340A>G	ENST00000408954.3	+	8	1092	c.757A>G	c.(757-759)Aga>Gga	p.R253G	DAPK1_ENST00000358077.5_Missense_Mutation_p.R253G|DAPK1_ENST00000491893.1_Missense_Mutation_p.R253G|DAPK1_ENST00000469640.2_Missense_Mutation_p.R253G|DAPK1_ENST00000472284.1_Missense_Mutation_p.R253G	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	253	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						AGATTTCATAAGAAGACTTCT	0.473									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.R253G		.											.	.	.	0			c.A757G						.						85	86	86					9																	90255340		1932	4127	6059	SO:0001583	missense	1612	exon8	Familial Cancer Database	Familial CLL	TTCATAAGAAGAC	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.757A>G	9.37:g.90255340A>G	ENSP00000386135:p.Arg253Gly	60	0		38	17	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589494	0.46214	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.1	5.1	0.69264	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	0.000042	T	0.56934	0.2019	L	0.52759	1.655	0.43032	D	0.994603	P;P;B	0.40602	0.723;0.721;0.326	B;B;B	0.39805	0.31;0.285;0.084	T	0.61959	-0.6955	10	0.52906	T	0.07	.	11.9327	0.52855	0.8448:0.1551:0.0:0.0	.	253;253;253	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	G	253	ENSP00000350785:R253G;ENSP00000417076:R253G;ENSP00000418885:R253G;ENSP00000386135:R253G;ENSP00000419026:R253G	ENSP00000350785:R253G	R	+	1	2	DAPK1	89445160	0.911000	0.30947	1.000000	0.80357	0.999000	0.98932	0.927000	0.28818	2.129000	0.65627	0.533000	0.62120	AGA	.		0.473	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		G	90255340	A	G	90255340	3	3	24	1	0	0	0	0	1	0	0	0	4244	64	3	4	783	4	DAPK1	9	90255340	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8066649	90255340	50958091	444	3591											
IARS	3376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	95005505	95005505	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:95005505C>A	ENST00000375643.3	-	28	3259	c.2993G>T	c.(2992-2994)cGc>cTc	p.R998L	IARS_ENST00000474340.1_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.R998L|IARS_ENST00000447699.2_Missense_Mutation_p.R888L|IARS_ENST00000375627.1_Missense_Mutation_p.R51L|IARS_ENST00000375629.3_Missense_Mutation_p.R51L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	998					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)	AACCTTTTTGCGAAGTTTCTG	0.408											OREG0019313	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R998L		.											.	.	.	0			c.G2993T						.						126	102	110					9																	95005505		2203	4300	6503	SO:0001583	missense	3376	exon28			TTTTTGCGAAGTT	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.2993G>T	9.37:g.95005505C>A	ENSP00000364794:p.Arg998Leu	27	0	1309	13	6	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379456	0.95945	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627;ENST00000449893	T;T;T	0.44482	0.92;0.92;0.92	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	H	0.96269	3.795	0.80722	D	1	D;P;P	0.89917	1.0;0.956;0.902	D;P;P	0.78314	0.991;0.897;0.836	D	0.84377	0.0547	10	0.87932	D	0	-11.5555	19.4031	0.94639	0.0:1.0:0.0:0.0	.	508;998;843	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	L	998;51;998;888;998;51;230	ENSP00000364794:R998L;ENSP00000406448:R998L;ENSP00000415020:R888L	ENSP00000364778:R51L	R	-	2	0	IARS	94045326	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.380000	0.79704	2.676000	0.91093	0.462000	0.41574	CGC	.		0.408	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		A	95005505	C	A	95005505	3	1	24	1	0	0	0	0	1	0	0	0	7500	768	27	2	823	2	IARS	9	95005505	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4750165	95005505	46207926	445	3592											
ECM2	1842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	95277473	95277473	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:95277473A>G	ENST00000344604.5	-	4	643	c.494T>C	c.(493-495)cTa>cCa	p.L165P	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	165					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						ACCACTGAGTAGAGAATAGGA	0.338																																					p.L165P		.											.	.	.	0			c.T494C						.						32	31	31					9																	95277473		2203	4300	6503	SO:0001583	missense	1842	exon4			CTGAGTAGAGAAT	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.494T>C	9.37:g.95277473A>G	ENSP00000344758:p.Leu165Pro	30	0		21	12	NM_001393	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	8.292	0.817854	0.16607	.	.	ENSG00000106823	ENST00000344604	T	0.52526	0.66	5.32	0.266	0.15617	.	1.039030	0.07647	N	0.931225	T	0.26484	0.0647	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	10	0.29301	T	0.29	.	3.7834	0.08689	0.5971:0.0:0.2529:0.15	.	165	O94769	ECM2_HUMAN	P	165	ENSP00000344758:L165P	ENSP00000344758:L165P	L	-	2	0	ECM2	94317294	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	0.704000	0.25661	-0.120000	0.11809	-0.280000	0.10049	CTA	.		0.338	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		G	95277473	A	G	95277473	3	3	24	1	0	0	0	0	1	0	0	0	4912	420	15	4	1633	4	ECM2	9	95277473	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	271968	95277473	45935958	446	3593											
C9orf5	23731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	111798539	111798539	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:111798539A>G	ENST00000374586.3	-	16	2377	c.2346T>C	c.(2344-2346)ttT>ttC	p.F782F		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	782						integral component of membrane (GO:0016021)											GCAAGAGATGAAAAATCAACA	0.438																																					p.F782F		.											.	.	.	0			c.T2346C						.						99	98	98					9																	111798539		1939	4139	6078	SO:0001819	synonymous_variant	23731	exon16			GAGATGAAAAATC	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.2346T>C	9.37:g.111798539A>G		127	0		79	24	NM_032012	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	A	9.660	1.143855	0.21205	.	.	ENSG00000106771	ENST00000413712	.	.	.	5.52	3.21	0.36854	.	.	.	.	.	T	0.57257	0.2041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49881	-0.8892	4	.	.	.	-18.7779	7.8194	0.29280	0.6946:0.0:0.3054:0.0	.	.	.	.	P	375	.	.	S	-	1	0	C9orf5	110838360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.402000	0.44521	0.416000	0.25844	0.528000	0.53228	TCA	.		0.438	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		G	111798539	A	G	111798539	2	3	24	1	0	0	0	0	0	0	0	1	2493	243	9	4		4	C9orf5	9	111798539	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	16521066	111798539	29414892	447	3594											
PTPN3	5774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	112168774	112168774	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:112168774G>A	ENST00000374541.2	-	18	1864	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	PTPN3_ENST00000446349.1_Missense_Mutation_p.S411L|PTPN3_ENST00000262539.3_Missense_Mutation_p.S433L|PTPN3_ENST00000412145.1_Missense_Mutation_p.S456L|PTPN3_ENST00000394827.3_Missense_Mutation_p.S55L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	587					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						CAGCTCCCGTGAGTGGGACTC	0.582																																					p.S587L		.											.	.	.	0			c.C1760T						.						132	123	126					9																	112168774		2203	4300	6503	SO:0001583	missense	5774	exon18			TCCCGTGAGTGGG		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.1760C>T	9.37:g.112168774G>A	ENSP00000363667:p.Ser587Leu	51	0		31	13	NM_002829	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419003	0.83559	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.72167	-0.49;-0.45;-0.63;3.91;-0.4	5.74	4.82	0.62117	PDZ/DHR/GLGF (3);	0.292396	0.36932	N	0.002333	T	0.76140	0.3946	M	0.75615	2.305	0.43183	D	0.995	B;B;B	0.26635	0.155;0.096;0.045	B;B;B	0.36504	0.226;0.216;0.201	T	0.77091	-0.2716	10	0.87932	D	0	.	16.583	0.84719	0.0:0.1306:0.8694:0.0	.	433;542;587	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	L	587;456;411;587;55;433	ENSP00000416654:S456L;ENSP00000395384:S411L;ENSP00000363667:S587L;ENSP00000378304:S55L;ENSP00000262539:S433L	ENSP00000262539:S433L	S	-	2	0	PTPN3	111208595	1.000000	0.71417	0.961000	0.40146	0.981000	0.71138	6.454000	0.73493	1.390000	0.46547	0.561000	0.74099	TCA	.		0.582	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			A	112168774	G	A	112168774	3	1	24	1	0	0	0	0	1	0	0	0	12834	1294	45	3	1017	3	PTPN3	9	112168774	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	370235	112168774	29044657	448	3595											
C9orf152	401546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	112963453	112963453	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:112963453C>A	ENST00000400613.4	-	2	1104	c.495G>T	c.(493-495)atG>atT	p.M165I	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	165										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTTGCTGAGTCATCTGATTGG	0.502																																					p.M165I		.											.	.	.	0			c.G495T						.						203	185	191					9																	112963453		2203	4300	6503	SO:0001583	missense	401546	exon2			CTGAGTCATCTGA	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.495G>T	9.37:g.112963453C>A	ENSP00000383456:p.Met165Ile	53	0		30	13	NM_001012993	A8MWT6	Missense_Mutation	SNP	ENST00000400613.4	37	CCDS35102.2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444487	0.25987	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.33	0.115	0.14643	.	1.626060	0.03324	N	0.192407	T	0.30479	0.0766	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	9	0.46703	T	0.11	0.7061	5.3784	0.16178	0.0:0.5828:0.1496:0.2676	.	165	Q5JTZ5	CI152_HUMAN	I	165	.	ENSP00000383456:M165I	M	-	3	0	C9orf152	112003274	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.098000	0.15189	0.027000	0.15297	-0.302000	0.09304	ATG	.		0.502	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		A	112963453	C	A	112963453	3	1	24	1	0	0	0	0	1	0	0	0	2470	826	29	3	228	3	C9orf152	9	112963453	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	794679	112963453	28249978	449	3596											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	113205826	113205826	+	Splice_Site	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:113205826A>T	ENST00000401783.2	-	27	4974	c.4638T>A	c.(4636-4638)ccT>ccA	p.P1546P	SVEP1_ENST00000374469.1_Splice_Site_p.P1523P|SVEP1_ENST00000302728.8_Silent_p.P1546P|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	1546	Pentaxin.			P -> PGMF (in Ref. 1; CAF04067). {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						AAAACATACCAGGTATGGGCA	0.418																																					p.P1546P		.											.	.	.	0			c.T4638A						.						60	62	62					9																	113205826		1932	4136	6068	SO:0001630	splice_region_variant	79987	exon27			CATACCAGGTATG	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.4639+1T>A	9.37:g.113205826A>T		31	0		20	5	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			.		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Silent	T	113205826	A	T	113205826	5	4	24	1	0	0	0	0	0	0	1	0	15467	202	7	5	6165	5	SVEP1	9	113205826	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	242373	113205826	28007605	450	3597											
SNX30	401548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	115598546	115598546	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:115598546A>G	ENST00000374232.3	+	5	835	c.671A>G	c.(670-672)gAg>gGg	p.E224G		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	224					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						AGAATGGGCGAGTCAGTCAAG	0.502																																					p.E224G		.											.	.	.	0			c.A671G						.						140	134	136					9																	115598546		2007	4177	6184	SO:0001583	missense	401548	exon5			TGGGCGAGTCAGT	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.671A>G	9.37:g.115598546A>G	ENSP00000363349:p.Glu224Gly	38	0		14	6	NM_001012994		Missense_Mutation	SNP	ENST00000374232.3	37	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.877495	0.91664	.	.	ENSG00000148158	ENST00000374232	T	0.28255	1.62	5.8	5.8	0.92144	.	0.051355	0.85682	D	0.000000	T	0.52677	0.1749	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.52011	-0.8632	10	0.54805	T	0.06	.	16.1405	0.81519	1.0:0.0:0.0:0.0	.	224	Q5VWJ9	SNX30_HUMAN	G	224	ENSP00000363349:E224G	ENSP00000363349:E224G	E	+	2	0	SNX30	114638367	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.315000	0.96313	2.214000	0.71695	0.533000	0.62120	GAG	.		0.502	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			G	115598546	A	G	115598546	3	3	24	1	0	0	0	0	1	0	0	0	14945	304	11	4	689	4	SNX30	9	115598546	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2392720	115598546	25614885	451	3598											
RGS3	5998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	116356551	116356551	+	Intron	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:116356551A>G	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.T118A	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						GGGGGGCCCTACAGAGATGCT	0.657																																					p.T118A		.											.	.	.	0			c.A352G						.						37	45	43					9																	116356551		2201	4298	6499	SO:0001627	intron_variant	5998	exon1			GGCCCTACAGAGA	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.3081-159A>G	9.37:g.116356551A>G		17	0		14	6	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	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820467	0.50633	.	.	ENSG00000138835	ENST00000462403	T	0.57595	0.39	5.23	-9.78	0.00496	.	.	.	.	.	T	0.16471	0.0396	N	0.02011	-0.69	0.22412	N	0.999129	B	0.02656	0.0	B	0.01281	0.0	T	0.11060	-1.0603	9	0.35671	T	0.21	.	1.816	0.03100	0.1717:0.2137:0.3717:0.2429	.	118	Q5VZ06	.	A	118	ENSP00000436168:T118A	ENSP00000436168:T118A	T	+	1	0	RGS3	115396372	0.000000	0.05858	0.119000	0.21687	0.961000	0.63080	-0.857000	0.04286	-1.116000	0.02969	0.456000	0.33151	ACA	.		0.657	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		G	116356551	A	G	116356551	1	3	24	0	1	0	0	0	0	0	0	0	13351	391	14	4		4	RGS3	9	116356551	Intron	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	758005	116356551	24856880	452	3599											
AMBP	259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	116840382	116840382	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:116840382A>G	ENST00000265132.3	-	1	370	c.108T>C	c.(106-108)aaT>aaC	p.N36N		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	36					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCCGAGAGATATTGAAGTTTT	0.652																																					p.N36N		.											.	.	.	0			c.T108C						.						126	135	132					9																	116840382		2203	4300	6503	SO:0001819	synonymous_variant	259	exon1			AGAGATATTGAAG	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.108T>C	9.37:g.116840382A>G		36	0		19	9	NM_001633	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	CCDS6800.1																																																																																			.		0.652	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		G	116840382	A	G	116840382	2	3	24	1	0	0	0	0	0	0	0	1	564	446	16	4		4	AMBP	9	116840382	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	483831	116840382	24373049	453	3600											
ORM1	5004	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	117086362	117086362	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:117086362A>G	ENST00000259396.8	+	3	400	c.322A>G	c.(322-324)Aga>Gga	p.R108G	ORM1_ENST00000538816.1_3'UTR|ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	108					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)	GACCATCTCCAGATACGGTGA	0.567																																					p.R108G		.											.	.	.	0			c.A322G						.						123	131	129					9																	117086362		2203	4300	6503	SO:0001583	missense	5004	exon3			ATCTCCAGATACG		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.322A>G	9.37:g.117086362A>G	ENSP00000259396:p.Arg108Gly	37	0		23	8	NM_000607	B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	CCDS6803.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290708	0.23564	.	.	ENSG00000229314	ENST00000259396	T	0.07800	3.16	3.39	-0.283	0.12874	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.729034	0.13178	N	0.407765	T	0.06508	0.0167	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31833	-0.9929	10	0.72032	D	0.01	-0.4749	5.7846	0.18326	0.6202:0.0:0.3798:0.0	.	108	P02763	A1AG1_HUMAN	G	108	ENSP00000259396:R108G	ENSP00000259396:R108G	R	+	1	2	ORM1	116126183	0.020000	0.18652	0.001000	0.08648	0.060000	0.15804	2.102000	0.41796	-0.055000	0.13244	0.260000	0.18958	AGA	.		0.567	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			G	117086362	A	G	117086362	3	3	24	1	0	0	0	0	1	0	0	0	11306	180	7	4	332	4	ORM1	9	117086362	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	245980	117086362	24127069	454	3601											
ATP6V1G1	9550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	117359886	117359886	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:117359886G>A	ENST00000374050.3	+	3	313	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	74					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						CACTGAAGTGGAGAAGGAGAC	0.517																																					p.E74K		.											.	.	.	0			c.G220A						.						106	91	96					9																	117359886		2203	4300	6503	SO:0001583	missense	9550	exon3			GAAGTGGAGAAGG	AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"ATPases / V-type"	864	protein-coding gene	gene with protein product		607296	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.220G>A	9.37:g.117359886G>A	ENSP00000363162:p.Glu74Lys	54	0		52	16	NM_004888	Q6IB33	Missense_Mutation	SNP	ENST00000374050.3	37	CCDS6807.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532207	0.85812	.	.	ENSG00000136888	ENST00000374050	T	0.47869	0.83	6.17	6.17	0.99709	.	0.042296	0.85682	D	0.000000	T	0.55162	0.1903	L	0.57130	1.785	0.80722	D	1	B	0.30763	0.294	B	0.38755	0.281	T	0.47761	-0.9092	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	74	O75348	VATG1_HUMAN	K	74	ENSP00000363162:E74K	ENSP00000363162:E74K	E	+	1	0	ATP6V1G1	116399707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.062000	0.93920	2.941000	0.99782	0.655000	0.94253	GAG	.		0.517	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055454.1	NM_004888		A	117359886	G	A	117359886	3	1	24	1	0	0	0	0	1	0	0	0	1187	1175	41	3	230	3	ATP6V1G1	9	117359886	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	273524	117359886	23853545	455	3602											
TNC	3371	hgsc.bcm.edu	37	9	117797604	117797604	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:117797604G>T	ENST00000350763.4	-	22	6077	c.5666C>A	c.(5665-5667)tCt>tAt	p.S1889Y	TNC_ENST00000423613.2_Missense_Mutation_p.S1616Y|TNC_ENST00000535648.1_Missense_Mutation_p.S1434Y|TNC_ENST00000341037.4_Missense_Mutation_p.S1707Y|TNC_ENST00000346706.3_Missense_Mutation_p.S1343Y|TNC_ENST00000340094.3_Missense_Mutation_p.S1525Y|TNC_ENST00000345230.3_Missense_Mutation_p.S1252Y|TNC_ENST00000542877.1_Missense_Mutation_p.S1526Y|TNC_ENST00000537320.1_Missense_Mutation_p.S1252Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1889	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)			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						GTCTCTTGGAGAATCGAGGTC	0.512																																					p.S1889Y		.											TNC,NS,malignant_melanoma,0,1	TNC	0	0			c.C5666A						.						68	68	68					9																	117797604		2203	4300	6503	SO:0001583	missense	3371	exon22			CTTGGAGAATCGA		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.5666C>A	9.37:g.117797604G>T	ENSP00000265131:p.Ser1889Tyr	56	0		44	2	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230446|4.230446	0.79688|0.79688	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.|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	5.97|5.97	5.97|5.97	0.96955|0.96955	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.309163	.|0.38217	.|N	.|0.001779	T|T	0.67353|0.67353	0.2884|0.2884	L|L	0.52905|0.52905	1.665|1.665	0.23776|0.23776	N|N	0.996871|0.996871	.|D;P	.|0.64830	.|0.994;0.9	.|D;P	.|0.66196	.|0.942;0.793	T|T	0.62315|0.62315	-0.6880|-0.6880	5|10	.|0.72032	.|D	.|0.01	.|.	15.8476|15.8476	0.78903|0.78903	0.0:0.135:0.865:0.0|0.0:0.135:0.865:0.0	.|.	.|1616;1889	.|E9PC84;P24821	.|.;TENA_HUMAN	L|Y	451|1525;1434;1343;1252;1889;961;1707;1616;1252;1526	.|ENSP00000344400:S1525Y;ENSP00000438152:S1434Y;ENSP00000344555:S1343Y;ENSP00000345861:S1252Y;ENSP00000265131:S1889Y;ENSP00000339553:S1707Y;ENSP00000411406:S1616Y;ENSP00000443478:S1252Y;ENSP00000442242:S1526Y	.|ENSP00000344400:S1525Y	F|S	-|-	3|2	2|0	TNC|TNC	116837425|116837425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	6.308000|6.308000	0.72820|0.72820	2.819000|2.819000	0.97034|0.97034	0.655000|0.655000	0.94253|0.94253	TTC|TCT	.		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117797604	G	T	117797604	3	4	24	1	0	0	0	0	1	0	0	0	16317	942	33	3	967	3	TNC	9	117797604	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	437718	117797604	23415827	456	3603											
CEP110	11064	broad.mit.edu;bcgsc.ca	37	9	123937475	123937475	+	Silent	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:123937475A>T	ENST00000373855.1	+	43	7187	c.6927A>T	c.(6925-6927)acA>acT	p.T2309T	CNTRL_ENST00000238341.5_Silent_p.T2309T|CNTRL_ENST00000373850.1_Silent_p.T1757T|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2309	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						CTTCCCTCACAGAGGACTCTC	0.443																																					p.T2309T													.	CNTRL	161	0			c.A6927T						.						83	76	78					9																	123937475		2203	4300	6503	SO:0001819	synonymous_variant	11064	exon41			CCTCACAGAGGAC	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.6927A>T	9.37:g.123937475A>T		40	1		31	10	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																			.		0.443	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		T	123937475	A	T	123937475	2	4	24	1	0	0	0	0	0	0	0	1	3252	175	7	5		5	CEP110	9	123937475	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6139871	123937475	17275956	457	3604											
RABGAP1	23637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	125760961	125760961	+	Silent	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:125760961C>G	ENST00000373647.4	+	10	1424	c.1290C>G	c.(1288-1290)gtC>gtG	p.V430V		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	430					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGACAAAAGTCCGCGTTTGCT	0.368																																					p.V430V		.											.	.	.	0			c.C1290G						.						116	120	118					9																	125760961		2203	4300	6503	SO:0001819	synonymous_variant	23637	exon10			AAAAGTCCGCGTT	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1290C>G	9.37:g.125760961C>G		200	0		110	39	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	CCDS6848.2																																																																																			.		0.368	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		G	125760961	C	G	125760961	2	3	24	1	0	0	0	0	0	0	0	1	13009	842	30	5		5	RABGAP1	9	125760961	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1823486	125760961	15452470	458	3605											
GPR21	2844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	125797792	125797792	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:125797792A>G	ENST00000373642.1	+	1	987	c.947A>G	c.(946-948)aAg>aGg	p.K316R	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	316					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						AGAGGACTAAAGCGCCTCTCA	0.453																																					p.K316R		.											.	.	.	0			c.A947G						.						84	85	85					9																	125797792		2203	4300	6503	SO:0001583	missense	2844	exon2			GACTAAAGCGCCT	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.947A>G	9.37:g.125797792A>G	ENSP00000362746:p.Lys316Arg	39	0		32	13	NM_005294	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	A	1.564	-0.536031	0.04082	.	.	ENSG00000188394	ENST00000373642	T	0.38077	1.16	6.03	4.87	0.63330	.	0.305702	0.27375	U	0.019659	T	0.17874	0.0429	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.05767	-1.0865	10	0.08179	T	0.78	-3.0148	12.3676	0.55236	0.8656:0.0:0.0:0.1344	.	316	Q99679	GPR21_HUMAN	R	316	ENSP00000362746:K316R	ENSP00000362746:K316R	K	+	2	0	GPR21	124837613	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.910000	0.63321	1.065000	0.40693	-0.438000	0.05819	AAG	.		0.453	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		G	125797792	A	G	125797792	3	3	24	1	0	0	0	0	1	0	0	0	6707	72	3	4	949	4	GPR21	9	125797792	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	36831	125797792	15415639	459	3606											
RABGAP1	23637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	125836700	125836700	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:125836700T>C	ENST00000373647.4	+	17	2380	c.2246T>C	c.(2245-2247)tTa>tCa	p.L749S	RABGAP1_ENST00000373643.5_Missense_Mutation_p.L88S	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	749	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GACCTGCTTTTATGTGAGGTA	0.428																																					p.L749S		.											.	.	.	0			c.T2246C						.						120	103	109					9																	125836700		2203	4300	6503	SO:0001583	missense	23637	exon17			TGCTTTTATGTGA	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2246T>C	9.37:g.125836700T>C	ENSP00000362751:p.Leu749Ser	80	0		57	22	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931524	0.92389	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.36157	1.27;1.27	6.16	6.16	0.99307	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000009	T	0.75852	0.3906	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85590	0.1245	10	0.87932	D	0	-10.9532	15.9872	0.80168	0.0:0.0:0.0:1.0	.	749	Q9Y3P9	RBGP1_HUMAN	S	749;88	ENSP00000362751:L749S;ENSP00000362747:L88S	ENSP00000362747:L88S	L	+	2	0	RABGAP1	124876521	0.999000	0.42202	0.989000	0.46669	0.998000	0.95712	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	TTA	.		0.428	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		C	125836700	T	C	125836700	3	2	24	1	0	0	0	0	1	0	0	0	13009	1764	61	4	2308	4	RABGAP1	9	125836700	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	38908	125836700	15376731	460	3607											
DENND1A	57706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	126414328	126414328	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:126414328T>A	ENST00000373624.2	-	9	783	c.582A>T	c.(580-582)gaA>gaT	p.E194D	DENND1A_ENST00000394215.2_Missense_Mutation_p.E164D|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Missense_Mutation_p.E162D|DENND1A_ENST00000542603.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.E194D|DENND1A_ENST00000394219.3_Missense_Mutation_p.E162D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	194	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTATCCGGCGTTCGTACAGCA	0.403																																					p.E194D		.											.	.	.	0			c.A582T						.						100	93	95					9																	126414328		2203	4300	6503	SO:0001583	missense	57706	exon9			CCGGCGTTCGTAC	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.582A>T	9.37:g.126414328T>A	ENSP00000362727:p.Glu194Asp	38	0		21	7	NM_024820	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964299	0.74131	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.35	1.64	0.23874	DENN (3);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	M	0.93507	3.425	0.50171	D	0.99985	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.87578	0.997;0.997;0.993;0.998;0.993;0.998;0.998	T	0.60094	-0.7330	10	0.87932	D	0	-14.5749	9.435	0.38632	0.0:0.3944:0.0:0.6056	.	162;194;162;164;194;194;92	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	D	194;162;194;164;162	ENSP00000362727:E194D;ENSP00000377766:E162D;ENSP00000362722:E194D;ENSP00000377763:E164D;ENSP00000362720:E162D	ENSP00000362720:E162D	E	-	3	2	DENND1A	125454149	0.745000	0.28261	1.000000	0.80357	0.995000	0.86356	-0.142000	0.10311	0.087000	0.17167	0.460000	0.39030	GAA	.		0.403	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		A	126414328	T	A	126414328	3	1	24	1	0	0	0	0	1	0	0	0	4440	1722	60	5	2610	5	DENND1A	9	126414328	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	577628	126414328	14799103	461	3608											
NEK6	10783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	127113221	127113221	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:127113221A>G	ENST00000320246.5	+	10	1082	c.937A>G	c.(937-939)Acc>Gcc	p.T313A	NEK6_ENST00000546191.1_Missense_Mutation_p.T313A|NEK6_ENST00000394199.2_Missense_Mutation_p.T347A|NEK6_ENST00000540326.1_Missense_Mutation_p.T331A|NEK6_ENST00000373603.1_Missense_Mutation_p.T313A|AL137846.1_ENST00000583657.1_RNA|NEK6_ENST00000545174.1_Missense_Mutation_p.T313A|NEK6_ENST00000539416.1_Missense_Mutation_p.T338A|PSMB7_ENST00000498485.1_5'Flank|NEK6_ENST00000373600.3_Missense_Mutation_p.T347A	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	313					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GATGTCCAGCACCTGAGCGTG	0.557																																					p.T347A	NSCLC(122;934 1785 18647 44295 45571)	.											.	.	.	0			c.A1039G						.						97	69	79					9																	127113221		2203	4300	6503	SO:0001583	missense	10783	exon11			TCCAGCACCTGAG	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.937A>G	9.37:g.127113221A>G	ENSP00000319734:p.Thr313Ala	29	0		23	12	NM_001166171	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464883	0.26335	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000394199;ENST00000546191;ENST00000539416	T;T;T;T;T;T;T;T	0.70399	-0.45;-0.45;-0.47;-0.45;-0.45;-0.47;-0.45;-0.48	5.38	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.27053	0.805	0.44652	D	0.997639	B;B;B;B	0.21452	0.033;0.056;0.034;0.056	B;B;B;B	0.21360	0.034;0.034;0.015;0.034	T	0.51996	-0.8634	10	0.46703	T	0.11	.	10.2832	0.43552	0.9232:0.0:0.0768:0.0	.	338;347;313;331	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	A	313;331;347;313;245;313;347;313;338	ENSP00000362705:T313A;ENSP00000441469:T331A;ENSP00000362702:T347A;ENSP00000319734:T313A;ENSP00000442636:T313A;ENSP00000377749:T347A;ENSP00000441426:T313A;ENSP00000439651:T338A	ENSP00000319734:T313A	T	+	1	0	NEK6	126153042	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	8.962000	0.93254	0.899000	0.36444	0.528000	0.53228	ACC	.		0.557	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		G	127113221	A	G	127113221	3	3	24	1	0	0	0	0	1	0	0	0	10367	159	6	4	1156	4	NEK6	9	127113221	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	698893	127113221	14100210	462	3609											
GAPVD1	26130	bcgsc.ca	37	9	128094335	128094335	+	Silent	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:128094335G>T	ENST00000495955.1	+	14	2594	c.2304G>T	c.(2302-2304)gtG>gtT	p.V768V	GAPVD1_ENST00000394104.2_Silent_p.V768V|GAPVD1_ENST00000394105.2_Silent_p.V768V|GAPVD1_ENST00000265956.4_Silent_p.V768V|GAPVD1_ENST00000312123.9_Silent_p.V747V|GAPVD1_ENST00000394083.2_Silent_p.V747V|GAPVD1_ENST00000470056.1_Silent_p.V768V|GAPVD1_ENST00000297933.6_Silent_p.V768V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	768					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						TCAGTGTTGTGTCCGGTATGT	0.468																																					p.V768V													.	GAPVD1	124	0			c.G2304T						.						99	77	84					9																	128094335		2203	4300	6503	SO:0001819	synonymous_variant	26130	exon12			TGTTGTGTCCGGT		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.2304G>T	9.37:g.128094335G>T		63	0		55	4	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.689|9.689	1.151328|1.151328	0.21371|0.21371	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000436712	.|T	.|0.13901	.|2.55	5.98|5.98	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.00087|0.00087	-1.2093|-1.2093	4|6	.|.	.|.	.|.	.|.	13.2037|13.2037	0.59782|0.59782	0.0709:0.1257:0.8034:0.0|0.0709:0.1257:0.8034:0.0	.|.	.|.	.|.	.|.	F|F	631|605	.|ENSP00000391251:V605F	.|.	C|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127134156|127134156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.394000|2.394000	0.44450|0.44450	2.837000|2.837000	0.97791|0.97791	0.637000|0.637000	0.83480|0.83480	TGT|GTC	.		0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			T	128094335	G	T	128094335	2	4	24	1	0	0	0	0	0	0	0	1	6264	1364	48	3		3	GAPVD1	9	128094335	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	981114	128094335	13119096	463	3610											
ODF2	4957	hgsc.bcm.edu	37	9	131256844	131256844	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:131256844T>G	ENST00000434106.3	+	17	2171	c.1808T>G	c.(1807-1809)cTg>cGg	p.L603R	ODF2_ENST00000372814.3_Missense_Mutation_p.L647R|ODF2_ENST00000393527.3_Missense_Mutation_p.L579R|ODF2_ENST00000372807.5_Missense_Mutation_p.L598R|ODF2_ENST00000351030.3_Missense_Mutation_p.L598R|ODF2_ENST00000604420.1_Missense_Mutation_p.L603R|ODF2_ENST00000444119.2_Missense_Mutation_p.L579R|ODF2_ENST00000393533.2_Missense_Mutation_p.L603R|ODF2_ENST00000546203.1_Missense_Mutation_p.L584R|ODF2_ENST00000448249.3_Missense_Mutation_p.L522R|ODF2_ENST00000372791.3_Missense_Mutation_p.L584R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	603					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)	p.L579P(1)|p.L603P(1)|p.L647P(1)		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						CCTGACATCCTGAAGATCACG	0.562																																					p.L667R		.											ODF2_ENST00000372814,NS,carcinoma,0,2	ODF2_ENST00000372814	0	3	Substitution - Missense(3)	endometrium(3)	c.T2000G						.						65	57	60					9																	131256844		2203	4300	6503	SO:0001583	missense	4957	exon17			ACATCCTGAAGAT	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.1808T>G	9.37:g.131256844T>G	ENSP00000403453:p.Leu603Arg	19	0		7	2	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345641	0.82022	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;D;D;D;D;T;T	0.83837	0.47;-1.57;-1.77;-1.77;-1.77;-1.57;0.58;0.6	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89836	0.6830	M	0.73217	2.22	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	0.87578	0.995;0.995;0.995;0.997;0.995;0.998;0.995	D	0.89327	0.3644	10	0.39692	T	0.17	-11.5259	14.6101	0.68510	0.0:0.0:0.0:1.0	.	584;598;522;603;584;603;579	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	R	603;647;598;603;579;522;584;584	ENSP00000377166:L603R;ENSP00000361901:L647R;ENSP00000342581:L598R;ENSP00000361882:L603R;ENSP00000307781:L579R;ENSP00000396687:L522R;ENSP00000437579:L584R;ENSP00000361877:L584R	ENSP00000307781:L579R	L	+	2	0	ODF2	130296665	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.449000	0.73473	2.047000	0.60756	0.459000	0.35465	CTG	.		0.562	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131256844	T	G	131256844	3	3	24	1	0	0	0	0	1	0	0	0	10866	1580	55	4	1925	4	ODF2	9	131256844	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3162509	131256844	9956587	464	3611			1	3		4	3	61	N	T_A	1.487741e-06
ODF2	4957	hgsc.bcm.edu	37	9	131256878	131256878	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:131256878A>G	ENST00000434106.3	+	17	2205	c.1842A>G	c.(1840-1842)caA>caG	p.Q614Q	ODF2_ENST00000372814.3_Silent_p.Q658Q|ODF2_ENST00000393527.3_Silent_p.Q590Q|ODF2_ENST00000372807.5_Silent_p.Q609Q|ODF2_ENST00000351030.3_Silent_p.Q609Q|ODF2_ENST00000604420.1_Silent_p.Q614Q|ODF2_ENST00000444119.2_Silent_p.Q590Q|ODF2_ENST00000393533.2_Silent_p.Q614Q|ODF2_ENST00000546203.1_Silent_p.Q595Q|ODF2_ENST00000448249.3_Silent_p.Q533Q|ODF2_ENST00000372791.3_Silent_p.Q595Q	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	614					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						CTGAGTGCCAAGACCAACTGC	0.582																																					p.Q678Q		.											.	.	.	0			c.A2034G						.						77	66	70					9																	131256878		2203	4300	6503	SO:0001819	synonymous_variant	4957	exon17			GTGCCAAGACCAA	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.1842A>G	9.37:g.131256878A>G		17	0		12	6	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	CCDS56588.1																																																																																			.		0.582	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131256878	A	G	131256878	2	3	24	1	0	0	0	0	0	0	0	1	10866	69	3	4		4	ODF2	9	131256878	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	34	131256878	9956553	465	3612	32	2	1	3		4	3	61	N	T_A	1.487741e-06
ODF2	4957	hgsc.bcm.edu;broad.mit.edu	37	9	131256884	131256884	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:131256884A>C	ENST00000434106.3	+	17	2211	c.1848A>C	c.(1846-1848)caA>caC	p.Q616H	ODF2_ENST00000372814.3_Missense_Mutation_p.Q660H|ODF2_ENST00000393527.3_Missense_Mutation_p.Q592H|ODF2_ENST00000372807.5_Missense_Mutation_p.Q611H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q611H|ODF2_ENST00000604420.1_Missense_Mutation_p.Q616H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q592H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q616H|ODF2_ENST00000546203.1_Missense_Mutation_p.Q597H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q535H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q597H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	616					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)	p.Q616Q(1)|p.Q592Q(1)|p.Q660Q(1)		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						GCCAAGACCAACTGCAGGGCT	0.587																																					p.Q680H		.											ODF2_ENST00000372814,NS,carcinoma,0,2	ODF2_ENST00000372814	0	3	Substitution - coding silent(3)	kidney(3)	c.A2040C						.						77	67	71					9																	131256884		2203	4300	6503	SO:0001583	missense	4957	exon17			AGACCAACTGCAG	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.1848A>C	9.37:g.131256884A>C	ENSP00000403453:p.Gln616His	16	0		13	4	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596863	0.66332	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;D;D;D;D;T;T	0.83992	1.36;-1.79;-1.73;-1.73;-1.73;-1.79;1.38;1.38	5.4	3.55	0.40652	.	0.183924	0.48767	D	0.000164	D	0.83885	0.5351	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.994;0.996;0.994;0.996;0.994;0.996;0.998	P;P;P;P;P;P;P	0.62560	0.861;0.892;0.861;0.904;0.861;0.892;0.892	T	0.83005	-0.0175	10	0.54805	T	0.06	-27.1705	7.5816	0.27967	0.26:0.0:0.74:0.0	.	597;611;535;616;597;616;592	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	H	616;660;611;616;592;535;597;597	ENSP00000377166:Q616H;ENSP00000361901:Q660H;ENSP00000342581:Q611H;ENSP00000361882:Q616H;ENSP00000307781:Q592H;ENSP00000396687:Q535H;ENSP00000437579:Q597H;ENSP00000361877:Q597H	ENSP00000307781:Q592H	Q	+	3	2	ODF2	130296705	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.590000	0.36654	1.257000	0.44085	-0.366000	0.07423	CAA	.		0.587	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			C	131256884	A	C	131256884	3	2	24	1	0	0	0	0	1	0	0	0	10866	40	2	4	1965	4	ODF2	9	131256884	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6	131256884	9956547	466	3613	32	2	1	3		4	3	61	N	T_A	1.487741e-06
ODF2	4957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	131256904	131256904	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:131256904A>C	ENST00000434106.3	+	17	2231	c.1868A>C	c.(1867-1869)aAg>aCg	p.K623T	ODF2_ENST00000372814.3_Missense_Mutation_p.K667T|ODF2_ENST00000393527.3_Missense_Mutation_p.K599T|ODF2_ENST00000372807.5_Missense_Mutation_p.K618T|ODF2_ENST00000351030.3_Missense_Mutation_p.K618T|ODF2_ENST00000604420.1_Missense_Mutation_p.K623T|ODF2_ENST00000444119.2_Missense_Mutation_p.K599T|ODF2_ENST00000393533.2_Missense_Mutation_p.K623T|ODF2_ENST00000546203.1_Missense_Mutation_p.K604T|ODF2_ENST00000448249.3_Missense_Mutation_p.K542T|ODF2_ENST00000372791.3_Missense_Mutation_p.K604T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	623					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						TATGAGCGGAAGAACATCGAC	0.602																																					p.K687T		.											.	.	.	0			c.A2060C						.						77	69	72					9																	131256904		2203	4300	6503	SO:0001583	missense	4957	exon17			AGCGGAAGAACAT	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.1868A>C	9.37:g.131256904A>C	ENSP00000403453:p.Lys623Thr	17	0		14	6	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266726	0.80358	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;T;T;T;D;T;T	0.82619	1.33;-1.63;-0.02;-0.02;-0.02;-1.63;1.35;1.36	5.4	5.4	0.78164	.	0.095740	0.64402	D	0.000002	D	0.87609	0.6220	L	0.52573	1.65	0.42207	D	0.991794	D;D;D;D;D;D;D	0.76494	0.999;0.983;0.999;0.999;0.999;0.983;0.991	D;P;D;D;D;P;P	0.67725	0.929;0.798;0.929;0.953;0.929;0.798;0.798	D	0.87377	0.2354	10	0.41790	T	0.15	-30.6116	14.6101	0.68510	1.0:0.0:0.0:0.0	.	604;618;542;623;604;623;599	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	T	623;667;618;623;599;542;604;604	ENSP00000377166:K623T;ENSP00000361901:K667T;ENSP00000342581:K618T;ENSP00000361882:K623T;ENSP00000307781:K599T;ENSP00000396687:K542T;ENSP00000437579:K604T;ENSP00000361877:K604T	ENSP00000307781:K599T	K	+	2	0	ODF2	130296725	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.590000	0.61013	2.047000	0.60756	0.459000	0.35465	AAG	.		0.602	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			C	131256904	A	C	131256904	3	2	24	1	0	0	0	0	1	0	0	0	10866	72	3	4	1985	4	ODF2	9	131256904	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	20	131256904	9956527	467	3614			1	3		4	3	61	N	T_A	1.487741e-06
CRAT	1384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	131864315	131864315	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:131864315G>T	ENST00000318080.2	-	6	946	c.652C>A	c.(652-654)Cac>Aac	p.H218N	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	218					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)	CCGTCACTGTGGTACACATCC	0.577																																					p.H218N		.											.	.	.	0			c.C652A						.						95	80	85					9																	131864315		2203	4300	6503	SO:0001583	missense	1384	exon6			CACTGTGGTACAC	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.652C>A	9.37:g.131864315G>T	ENSP00000315013:p.His218Asn	43	0		16	7	NM_000755	Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	2.203	-0.382448	0.04966	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	T	0.39229	1.09	4.6	3.67	0.42095	.	0.098476	0.64402	N	0.000003	T	0.16896	0.0406	N	0.02736	-0.51	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.06862	-1.0803	10	0.09590	T	0.72	-27.3184	10.5455	0.45058	0.0:0.0:0.5047:0.4953	.	218	P43155	CACP_HUMAN	N	218	ENSP00000315013:H218N	ENSP00000315013:H218N	H	-	1	0	CRAT	130904136	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.554000	0.45845	1.097000	0.41459	0.561000	0.74099	CAC	.		0.577	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			T	131864315	G	T	131864315	3	4	24	1	0	0	0	0	1	0	0	0	3854	1348	47	3	1264	3	CRAT	9	131864315	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	607411	131864315	9349116	468	3615											
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	135204542	135204542	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:135204542A>C	ENST00000224140.5	-	10	2625	c.2443T>G	c.(2443-2445)Ttg>Gtg	p.L815V	SETX_ENST00000393220.1_Missense_Mutation_p.L815V|SETX_ENST00000372169.2_Missense_Mutation_p.L815V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	815					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)		GATACAGTCAAATTTTCATCT	0.343																																					p.L815V		.											.	.	.	0			c.T2443G						.						73	68	69					9																	135204542		2202	4299	6501	SO:0001583	missense	23064	exon10			CAGTCAAATTTTC	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.2443T>G	9.37:g.135204542A>C	ENSP00000224140:p.Leu815Val	13	0		10	5	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	9.624	1.134706	0.21123	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86627	-2.06;-2.15;-1.76	5.52	0.275	0.15659	.	8.965640	0.00166	N	0.000010	T	0.75997	0.3926	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.007	B;B;B	0.10450	0.005;0.002;0.005	T	0.63673	-0.6584	10	0.02654	T	1	.	4.4586	0.11656	0.086:0.4116:0.3564:0.146	.	815;815;815	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	815	ENSP00000224140:L815V;ENSP00000361242:L815V;ENSP00000376913:L815V	ENSP00000224140:L815V	L	-	1	2	SETX	134194363	.	.	0.026000	0.17262	0.083000	0.17756	.	.	0.087000	0.17167	-0.177000	0.13119	TTG	.		0.343	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		C	135204542	A	C	135204542	3	2	24	1	0	0	0	0	1	0	0	0	14186	11	1	4	5658	4	SETX	9	135204542	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3340227	135204542	6008889	469	3616											
C9orf96	169436	hgsc.bcm.edu;bcgsc.ca	37	9	136270413	136270413	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:136270413G>A	ENST00000371957.3	+	18	2018	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	C9orf96_ENST00000371955.1_Silent_p.K170K	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		637							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)		GTAGTATGAAGGCCCTGCTCC	0.632																																					p.K637K		.											.	.	.	0			c.G1911A						.						51	45	47					9																	136270413		2203	4300	6503	SO:0001819	synonymous_variant	169436	exon18			TATGAAGGCCCTG																												ENST00000371957.3:c.1911G>A	9.37:g.136270413G>A		17	0		6	4	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	CCDS35169.1																																																																																			.		0.632	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			A	136270413	G	A	136270413	2	1	24	1	0	0	0	0	0	0	0	1	2515	991	35	3		3	C9orf96	9	136270413	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1065871	136270413	4943018	470	3617											
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	137650127	137650127	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:137650127C>T	ENST00000371817.3	+	18	2334	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	640	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)		GGTTGCCAGGCGAGAAGGGCC	0.627																																					p.G640G		.											.	.	.	0			c.C1920T						.						108	97	101					9																	137650127		2203	4300	6503	SO:0001819	synonymous_variant	1289	exon18			GCCAGGCGAGAAG	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.1920C>T	9.37:g.137650127C>T		23	0		17	11	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			.		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137650127	C	T	137650127	2	4	24	1	0	0	0	0	0	0	0	1	3703	755	27	1		1	COL5A1	9	137650127	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1379714	137650127	3563304	471	3618											
C9orf86	55684	hgsc.bcm.edu	37	9	139734291	139734291	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:139734291C>T	ENST00000311502.7	+	13	2140	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	RABL6_ENST00000371663.4_Missense_Mutation_p.A636V|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371675.3_Missense_Mutation_p.A520V			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	635					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CTGGAGGAGGCCGGACCCAAG	0.677																																					p.A636V		.											.	.	.	0			c.C1907T						.						21	27	25					9																	139734291		1934	4113	6047	SO:0001583	missense	55684	exon13			AGGAGGCCGGACC	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1904C>T	9.37:g.139734291C>T	ENSP00000311134:p.Ala635Val	94	0		70	4	NM_001173988	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	.	6.853	0.526698	0.13066	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675;ENST00000435930	T;T;T;T	0.65178	-0.11;-0.11;-0.11;-0.14	4.72	3.81	0.43845	.	0.640675	0.15773	N	0.245330	T	0.45994	0.1370	L	0.34521	1.04	0.09310	N	1	B;B;B	0.29552	0.248;0.058;0.035	B;B;B	0.32090	0.14;0.04;0.018	T	0.28744	-1.0034	10	0.17832	T	0.49	-0.8971	5.3765	0.16168	0.1996:0.6926:0.0:0.1079	.	429;636;635	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	V	636;635;520;429	ENSP00000360727:A636V;ENSP00000311134:A635V;ENSP00000360740:A520V;ENSP00000408442:A429V	ENSP00000311134:A635V	A	+	2	0	C9orf86	138854112	0.000000	0.05858	0.005000	0.12908	0.047000	0.14425	0.118000	0.15605	0.943000	0.37553	0.561000	0.74099	GCC	.		0.677	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		T	139734291	C	T	139734291	3	4	24	1	0	0	0	0	1	0	0	0	2509	739	26	3	2201	3	C9orf86	9	139734291	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2084164	139734291	1479140	472	3619											
C9orf86	55684	hgsc.bcm.edu;broad.mit.edu	37	9	139734973	139734973	+	Nonstop_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:139734973A>C	ENST00000311502.7	+	15	2425	c.2189A>C	c.(2188-2190)tAg>tCg	p.*730S	RABL6_ENST00000371663.4_Nonstop_Mutation_p.*731S|RABL6_ENST00000357466.2_Silent_p.L372L|RABL6_ENST00000371675.3_Nonstop_Mutation_p.*615S			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	0					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GAGGAGCTCTAGGCCGGCGTG	0.741																																					p.X731S		.											.	.	.	0			c.A2192C						.						2	2	2					9																	139734973		1294	2807	4101	SO:0001578	stop_lost	55684	exon15			AGCTCTAGGCCGG	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.2189A>C	9.37:g.139734973A>C	ENSP00000311134:p.*730Serext*97	9	0		11	5	NM_001173988	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	.	7.438	0.640158	0.14386	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675	.	.	.	2.9	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2214	0.37379	1.0:0.0:0.0:0.0	.	.	.	.	S	731;730;615	.	.	X	+	2	0	C9orf86	138854794	0.398000	0.25279	0.981000	0.43875	0.134000	0.20937	3.963000	0.56773	1.320000	0.45209	0.379000	0.24179	TAG	.		0.741	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		C	139734973	A	C	139734973	4	2	24	1	0	0	0	0	0	0	0	0	2509	433	15	4	2494	4	C9orf86	9	139734973	Nonstop_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	682	139734973	1478458	473	3620											
LCN12	286256	broad.mit.edu	37	9	139848199	139848199	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:139848199A>G	ENST00000371633.3	+	3	299	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	100					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	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)		CCGGCAGCCCAGCCTGGGCAG	0.637																																					p.Q100R													.	LCN12	11	0			c.A299G						.						33	36	35					9																	139848199		2065	4187	6252	SO:0001583	missense	286256	exon3			CAGCCCAGCCTGG	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.299A>G	9.37:g.139848199A>G	ENSP00000360696:p.Gln100Arg	61	0		38	5	NM_178536	A2AMJ7	Missense_Mutation	SNP	ENST00000371633.3	37	CCDS7018.2	.	.	.	.	.	.	.	.	.	.	A	9.439	1.087473	0.20390	.	.	ENSG00000184925	ENST00000371633;ENST00000371632	T;D	0.82433	3.14;-1.61	2.37	2.37	0.29283	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.275120	0.19496	N	0.112843	T	0.70351	0.3214	N	0.25825	0.765	0.09310	N	1	B;B	0.25850	0.136;0.108	B;B	0.29353	0.101;0.039	T	0.60276	-0.7295	10	0.41790	T	0.15	-17.8383	6.6229	0.22812	1.0:0.0:0.0:0.0	.	100;100	Q8IW14;Q6JVE5	.;LCN12_HUMAN	R	100;34	ENSP00000360696:Q100R;ENSP00000360695:Q34R	ENSP00000360695:Q34R	Q	+	2	0	LCN12	138968020	0.003000	0.15002	0.206000	0.23566	0.009000	0.06853	0.277000	0.18734	1.329000	0.45376	0.260000	0.18958	CAG	.		0.637	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		G	139848199	A	G	139848199	3	3	24	1	0	0	0	0	1	0	0	0	8710	188	7	4	309	4	LCN12	9	139848199	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	113226	139848199	1365232	474	3621											
C9orf167	54863	broad.mit.edu	37	9	140174311	140174311	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr9:140174311C>T	ENST00000357503.2	+	2	1366	c.1170C>T	c.(1168-1170)cgC>cgT	p.R390R		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	390					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										ACCAGGCCCGCGCGGAGAACC	0.672																																					p.R390R													.	.	.	0			c.C1170T						.						11	14	13					9																	140174311		2189	4287	6476	SO:0001819	synonymous_variant	54863	exon2			GGCCCGCGCGGAG	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.1170C>T	9.37:g.140174311C>T		13	0		4	3	NM_017723	A2BFA4	Silent	SNP	ENST00000357503.2	37	CCDS7041.1																																																																																			.		0.672	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		T	140174311	C	T	140174311	2	4	24	1	0	0	0	0	0	0	0	1	2475	755	27	1		1	C9orf167	9	140174311	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	326112	140174311	1039120	475	3622											
DIP2C	22982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	387246	387246	+	Silent	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:387246G>T	ENST00000280886.6	-	29	3564	c.3477C>A	c.(3475-3477)gcC>gcA	p.A1159A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1159						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)		AACGGCAGAAGGCACTGGTGG	0.552																																					p.A1159A		.											.	.	.	0			c.C3477A						.						144	118	127					10																	387246		2203	4300	6503	SO:0001819	synonymous_variant	22982	exon29			GCAGAAGGCACTG	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.3477C>A	10.37:g.387246G>T		71	0		38	14	NM_014974	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1																																																																																			.		0.552	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	387246	G	T	387246	2	4	24	1	0	0	0	0	0	0	0	1	4543	987	35	3		3	DIP2C	10	387246	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09		387246	135147501	476	3623											
C10orf18	54906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	5803315	5803315	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:5803315T>C	ENST00000328090.5	+	19	7680	c.7055T>C	c.(7054-7056)aTt>aCt	p.I2352T		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2352																	GCAAATATCATTGAATTGCTT	0.343																																					p.I2352T		.											.	.	.	0			c.T7055C						.						120	113	115					10																	5803315		1883	4112	5995	SO:0001583	missense	54906	exon19			ATATCATTGAATT	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.7055T>C	10.37:g.5803315T>C	ENSP00000328426:p.Ile2352Thr	76	0		38	18	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.543879	0.45280	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.46819	0.86	6.06	4.93	0.64822	.	0.374660	0.25869	N	0.027766	T	0.42040	0.1185	M	0.72118	2.19	0.34363	D	0.691188	P	0.38788	0.647	B	0.28553	0.091	T	0.60652	-0.7221	10	0.87932	D	0	.	9.5778	0.39468	0.0:0.1413:0.0:0.8587	.	2352	Q5VWN6	F208B_HUMAN	T	2352;1547	ENSP00000328426:I2352T	ENSP00000328426:I2352T	I	+	2	0	C10orf18	5843321	0.143000	0.22626	0.779000	0.31741	0.223000	0.24884	2.874000	0.48483	1.120000	0.41904	0.528000	0.53228	ATT	.		0.343	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		C	5803315	T	C	5803315	3	2	24	1	0	0	0	0	1	0	0	0	1601	1493	52	4	7117	4	C10orf18	10	5803315	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5416069	5803315	129731432	477	3624											
C10orf140	387640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	21805461	21805461	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:21805461T>C	ENST00000449193.2	-	4	3543	c.1291A>G	c.(1291-1293)Agc>Ggc	p.S431G	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Missense_Mutation_p.S352G	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	350						nucleus (GO:0005634)											GAGGCCCCGCTGCccccctcc	0.612																																					p.S431G		.											.	.	.	0			c.A1291G						.						6	8	7					10																	21805461		2053	4151	6204	SO:0001583	missense	387640	exon4			CCCCGCTGCCCCC	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.1291A>G	10.37:g.21805461T>C	ENSP00000410041:p.Ser431Gly	36	0		30	15	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	5.784	0.328994	0.10956	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.09	5.09	0.68999	.	0.930262	0.09165	N	0.839669	T	0.28267	0.0698	L	0.27053	0.805	0.29154	N	0.878201	P	0.47762	0.9	B	0.40940	0.344	T	0.03597	-1.1021	9	0.23302	T	0.38	-11.9417	12.3741	0.55271	0.0:0.0:0.0:1.0	.	431	E9PAX1	.	G	431;352	.	ENSP00000442432:S352G	S	-	1	0	C10orf140	21845467	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.031000	0.30165	1.919000	0.55581	0.454000	0.30748	AGC	.		0.612	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		C	21805461	T	C	21805461	3	2	24	1	0	0	0	0	1	0	0	0	1600	1580	55	4	1439	4	C10orf140	10	21805461	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	16002146	21805461	113729286	478	3625											
MSRB2	22921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	23393156	23393156	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:23393156G>C	ENST00000376510.3	+	2	305	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	68					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)	CGTCACAAGAGAAAAGGGAAC	0.488																																					p.E68Q	Esophageal Squamous(89;1240 1363 4973 30188 42299)	.											MSRB2,colon,carcinoma,0,1	MSRB2	0	0			c.G202C						.						79	77	77					10																	23393156		1939	4144	6083	SO:0001583	missense	22921	exon2			ACAAGAGAAAAGG	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.202G>C	10.37:g.23393156G>C	ENSP00000365693:p.Glu68Gln	62	0		39	15	NM_012228	Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080371	0.36662	.	.	ENSG00000148450	ENST00000376510	T	0.77620	-1.11	4.79	2.83	0.33086	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.104020	0.64402	D	0.000006	T	0.63236	0.2494	L	0.37561	1.115	0.41138	D	0.985931	B	0.31241	0.315	B	0.33196	0.159	T	0.51803	-0.8659	10	0.09338	T	0.73	-8.1169	8.2325	0.31605	0.0:0.1724:0.6491:0.1785	.	68	Q9Y3D2	MSRB2_HUMAN	Q	68	ENSP00000365693:E68Q	ENSP00000365693:E68Q	E	+	1	0	MSRB2	23433162	1.000000	0.71417	0.269000	0.24586	0.319000	0.28217	2.297000	0.43593	0.632000	0.30432	0.557000	0.71058	GAA	.		0.488	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		C	23393156	G	C	23393156	3	2	24	1	0	0	0	0	1	0	0	0	9926	943	33	5	208	5	MSRB2	10	23393156	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1587695	23393156	112141591	479	3626											
ARMC4	55130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	28196701	28196701	+	Missense_Mutation	SNP	A	A	G	rs150213638		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:28196701A>G	ENST00000305242.5	-	17	2593	c.2501T>C	c.(2500-2502)aTt>aCt	p.I834T	ARMC4_ENST00000537576.1_Missense_Mutation_p.I526T|ARMC4_ENST00000545014.1_Missense_Mutation_p.I359T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	834					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						TAAGCGATCAATTATCCTATC	0.398																																					p.I834T		.											.	.	.	0			c.T2501C						.	A	THR/ILE	0,4406		0,0,2203	101	90	94		2501	5.7	1	10	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARMC4	NM_018076.2	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	834/1045	28196701	1,13005	2203	4300	6503	SO:0001583	missense	55130	exon17			CGATCAATTATCC	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.2501T>C	10.37:g.28196701A>G	ENSP00000306410:p.Ile834Thr	71	0		59	20	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679946	0.68042	0.0	1.16E-4	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.95001	-3.58;-3.58;-3.58	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.044446	0.85682	D	0.000000	D	0.97711	0.9249	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.992;0.996	D	0.98628	1.0670	10	0.87932	D	0	-28.2121	16.0343	0.80612	1.0:0.0:0.0:0.0	.	359;834	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	T	526;834;359	ENSP00000443208:I526T;ENSP00000306410:I834T;ENSP00000441076:I359T	ENSP00000306410:I834T	I	-	2	0	ARMC4	28236707	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.053000	0.93860	2.198000	0.70561	0.533000	0.62120	ATT	0.000		0.398	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		G	28196701	A	G	28196701	3	3	24	1	0	0	0	0	1	0	0	0	954	101	4	4	649	4	ARMC4	10	28196701	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4803545	28196701	107338046	480	3627											
KIAA1462	57608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	30315724	30315724	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:30315724G>C	ENST00000375377.1	-	3	3454	c.3353C>G	c.(3352-3354)gCc>gGc	p.A1118G		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1118					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						TGGGGTGCAGGCACTTGCATC	0.637																																					p.A1118G		.											.	.	.	0			c.C3353G						.						43	46	45					10																	30315724		2001	4179	6180	SO:0001583	missense	57608	exon3			GTGCAGGCACTTG	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.3353C>G	10.37:g.30315724G>C	ENSP00000364526:p.Ala1118Gly	39	0		20	11	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143708	0.57044	.	.	ENSG00000165757	ENST00000375377	T	0.15017	2.46	4.79	2.91	0.33838	.	0.716055	0.13614	N	0.374894	T	0.20536	0.0494	M	0.61703	1.905	0.09310	N	1	B	0.27679	0.185	B	0.29716	0.106	T	0.16012	-1.0417	10	0.62326	D	0.03	-8.4635	10.2699	0.43477	0.0753:0.1364:0.7883:0.0	.	1118	Q9P266	K1462_HUMAN	G	1118	ENSP00000364526:A1118G	ENSP00000364526:A1118G	A	-	2	0	KIAA1462	30355730	0.001000	0.12720	0.008000	0.14137	0.014000	0.08584	0.810000	0.27183	0.536000	0.28733	0.462000	0.41574	GCC	.		0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		C	30315724	G	C	30315724	3	2	24	1	0	0	0	0	1	0	0	0	8261	1203	42	5	734	5	KIAA1462	10	30315724	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2119023	30315724	105219023	481	3628											
CREM	1390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	35500212	35500213	+	Intron	DNP	GA	GA	CT			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GA	GA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:35500212_35500213GA>CT	ENST00000395895.2	+	10	1100				CREM_ENST00000439705.1_Nonsense_Mutation_p.248_249KK>N*|CREM_ENST00000354759.3_Nonsense_Mutation_p.211_212KK>N*|CREM_ENST00000484283.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000460270.1_Nonsense_Mutation_p.58_59KK>N*|CREM_ENST00000344351.5_Nonsense_Mutation_p.58_59KK>N*|CREM_ENST00000463314.1_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000337656.4_Nonsense_Mutation_p.262_263KK>N*|CREM_ENST00000490511.1_Intron|CREM_ENST00000468236.1_Intron|CREM_ENST00000356917.5_Nonsense_Mutation_p.71_72KK>N*|CREM_ENST00000333809.8_Nonsense_Mutation_p.311_312KK>N*|CREM_ENST00000348787.2_Intron|CREM_ENST00000374728.3_Intron|RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000342105.3_Intron|CREM_ENST00000488741.1_Nonsense_Mutation_p.65_66KK>N*|CREM_ENST00000395887.3_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000474931.1_Nonsense_Mutation_p.75_76KK>N*|CREM_ENST00000488328.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374734.3_Nonsense_Mutation_p.199_200KK>N*|CREM_ENST00000473940.1_Nonsense_Mutation_p.83_84KK>N*|CREM_ENST00000374721.3_Nonsense_Mutation_p.232_233KK>N*|CREM_ENST00000487763.1_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GCAGGAAGAAGAAAGAATATGT	0.465																																					p.KK311N*		.											.	.	.	0			c.A787T						.																																			SO:0001627	intron_variant	1390	exon7			AAGAAGAAAGAAT		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"basic leucine zipper proteins"	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	Exception_encountered	10.37:g.35500212_35500213delinsCT		84	0		38	11	NM_183011	A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Nonsense_Mutation	DNP	ENST00000395895.2	37																																																																																				.		0.465	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		CT	35500213	GA	CT	35500212	1	2	24	0	1	0	0	0	0	0	0	0	3875	933	33	5		5	CREM	10	35500212	Intron	DNP	GA	TCGA-W5-AA39-01A-11D-A417-09	5184488	35500212	100034535	482	3629											
RET	5979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	43601837	43601837	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:43601837C>T	ENST00000355710.3	+	5	1113	c.881C>T	c.(880-882)gCc>gTc	p.A294V	RET_ENST00000340058.5_Missense_Mutation_p.A294V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	294					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)	ACCGTGGTGGCCACGCTGCGT	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																												p.A294V	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	.	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	.	.	.	0			c.C881T						.						49	36	41					10																	43601837		2203	4300	6503	SO:0001583	missense	5979	exon5	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	TGGTGGCCACGCT	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.881C>T	10.37:g.43601837C>T	ENSP00000347942:p.Ala294Val	47	0		20	10	NM_020630	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411434	0.42817	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.81163	-1.36;-1.46	5.05	5.05	0.67936	.	0.161832	0.52532	D	0.000061	T	0.81931	0.4927	L	0.56769	1.78	0.09310	N	1	P;P;P	0.48764	0.77;0.745;0.915	B;B;P	0.50896	0.357;0.287;0.653	T	0.76154	-0.3063	10	0.56958	D	0.05	.	11.5882	0.50931	0.0:0.8203:0.1797:0.0	.	40;294;294	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	294	ENSP00000347942:A294V;ENSP00000344798:A294V	ENSP00000344798:A294V	A	+	2	0	RET	42921843	0.975000	0.34042	0.080000	0.20451	0.009000	0.06853	3.107000	0.50329	2.618000	0.88619	0.467000	0.42956	GCC	.		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43601837	C	T	43601837	3	4	24	1	0	0	0	0	1	0	0	0	13280	739	26	3	899	3	RET	10	43601837	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	8101625	43601837	91932910	483	3630											
HNRNPF	3185	broad.mit.edu	37	10	43882519	43882526	+	Frame_Shift_Del	DEL	ACATTCCG	ACATTCCG	-	rs201947175|rs17849827		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:43882519_43882526delACATTCCG	ENST00000544000.1	-	4	1214_1221	c.807_814delCGGAATGT	c.(805-816)tccggaatgtatfs	p.GMY270fs	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Frame_Shift_Del_p.GMY270fs|HNRNPF_ENST00000356053.3_Frame_Shift_Del_p.GMY270fs|HNRNPF_ENST00000337970.3_Frame_Shift_Del_p.GMY270fs|HNRNPF_ENST00000357065.4_Frame_Shift_Del_p.GMY270fs	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	270					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)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CTGTGGTCATACATTCCGGAGAGACAGT	0.582																																					p.269_272del													.	HNRNPF	57	0			c.807_814del						.																																			SO:0001589	frameshift_variant	3185	exon4			GGTCATACATTCC		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.807_814delCGGAATGT	10.37:g.43882519_43882526delACATTCCG	ENSP00000438061:p.Gly270fs	18	0		13	5	NM_001098204	B3KM84|Q5T0N2|Q96AU2	Frame_Shift_Del	DEL	ENST00000544000.1	37	CCDS7204.1																																																																																			.		0.582	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			-	43882526	ACATTCCG	-	43882519	7	5	24	1	0	1	0	1	0	0	0	0	7292	391	14	0	437	0	HNRNPF	10	43882519	Frame_Shift_Del	DEL	ACATTCCG	TCGA-W5-AA39-01A-11D-A417-09	280682	43882519	91652228	484	3631											
TIMM23	100287932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	51592574	51592574	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:51592574A>C	ENST00000260867.4	-	7	683	c.560T>G	c.(559-561)cTt>cGt	p.L187R	TIMM23_ENST00000374065.3_Missense_Mutation_p.L150R|TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374064.3_Missense_Mutation_p.L139R	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	187					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GAGGCTGGTAAGTGTTAGTCC	0.453																																					p.L187R		.											.	.	.	0			c.T560G						.						141	134	136					10																	51592574		2203	4300	6503	SO:0001583	missense	100287932	exon7			CTGGTAAGTGTTA	AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.560T>G	10.37:g.51592574A>C	ENSP00000260867:p.Leu187Arg	65	0		33	15	NM_006327	Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	ENST00000260867.4	37	CCDS7238.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014513	0.35511	.	.	ENSG00000138297	ENST00000260867;ENST00000374064;ENST00000374065	T;T;T	0.35789	1.29;1.29;1.29	5.28	4.15	0.48705	.	0.153324	0.43110	D	0.000611	T	0.58366	0.2117	M	0.81341	2.54	0.38949	D	0.9583	D;D	0.69078	0.992;0.997	D;D	0.68039	0.935;0.955	T	0.65274	-0.6208	10	0.87932	D	0	-9.3599	11.0443	0.47849	0.9275:0.0:0.0725:0.0	.	150;187	B1APJ0;O14925	.;TIM23_HUMAN	R	187;139;150	ENSP00000260867:L187R;ENSP00000363177:L139R;ENSP00000363178:L150R	ENSP00000260867:L187R	L	-	2	0	TIMM23	51262580	1.000000	0.71417	0.063000	0.19743	0.002000	0.02628	6.879000	0.75572	1.022000	0.39626	-0.371000	0.07208	CTT	.		0.453	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048040.1	NM_006327.2		C	51592574	A	C	51592574	3	2	24	1	0	0	0	0	1	0	0	0	15958	72	3	4	73	4	TIMM23	10	51592574	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7710055	51592574	83942173	485	3632											
JMJD1C	221037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	64966863	64966863	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:64966863T>A	ENST00000399262.2	-	10	4784	c.4566A>T	c.(4564-4566)gtA>gtT	p.V1522V	JMJD1C_ENST00000542921.1_Silent_p.V1340V|JMJD1C_ENST00000399251.1_Silent_p.V1303V|JMJD1C_ENST00000402544.1_Silent_p.V1303V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1522					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)					TACTACAGATTACAGTGCTAT	0.418																																					p.V1522V		.											.	.	.	0			c.A4566T						.						130	122	124					10																	64966863		1886	4099	5985	SO:0001819	synonymous_variant	221037	exon10			ACAGATTACAGTG	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.4566A>T	10.37:g.64966863T>A		89	0		29	17	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	4.022	0.001472	0.07819	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.97	-2.12	0.07165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.8662	2.645	0.04981	0.1025:0.3428:0.2509:0.3038	.	.	.	.	L	208	.	.	X	-	2	2	JMJD1C	64636869	0.018000	0.18449	0.995000	0.50966	0.992000	0.81027	0.021000	0.13489	-0.058000	0.13177	0.482000	0.46254	TAA	.		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64966863	T	A	64966863	2	1	24	1	0	0	0	0	0	0	0	1	7977	1741	61	5		5	JMJD1C	10	64966863	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	13374289	64966863	70567884	486	3633											
JMJD1C	221037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	64966945	64966945	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:64966945T>G	ENST00000399262.2	-	10	4702	c.4484A>C	c.(4483-4485)aAa>aCa	p.K1495T	JMJD1C_ENST00000542921.1_Missense_Mutation_p.K1313T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K1276T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K1276T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1495					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)					ATTACTACTTTTATACTGAGC	0.408																																					p.K1495T		.											.	.	.	0			c.A4484C						.						102	96	98					10																	64966945		1883	4111	5994	SO:0001583	missense	221037	exon10			CTACTTTTATACT	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.4484A>C	10.37:g.64966945T>G	ENSP00000382204:p.Lys1495Thr	79	0		38	7	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.33|14.33	2.503389|2.503389	0.44558|0.44558	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T|T;T;T;T	0.60548|0.56941	0.18|0.73;0.43;2.18;0.78	5.75|5.75	4.6|4.6	0.57074|0.57074	.|.	0.160488|0.160488	0.56097|0.56097	D|D	0.000038|0.000038	T|T	0.49184|0.49184	0.1542|0.1542	L|L	0.54323|0.54323	1.7|1.7	0.35707|0.35707	D|D	0.81606|0.81606	.|P;P;P	.|0.48911	.|0.917;0.917;0.917	.|P;P;P	.|0.46850	.|0.529;0.529;0.529	T|T	0.55811|0.55811	-0.8082|-0.8082	8|10	0.52906|0.23302	T|T	0.07|0.38	-12.1255|-12.1255	8.0873|8.0873	0.30780|0.30780	0.1217:0.0672:0.0:0.8111|0.1217:0.0672:0.0:0.8111	.|.	.|1036;1495;1313	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	Q|T	181|1495;1276;1276;1313	ENSP00000335929:K181Q|ENSP00000382204:K1495T;ENSP00000384990:K1276T;ENSP00000382195:K1276T;ENSP00000444682:K1313T	ENSP00000335929:K181Q|ENSP00000382195:K1276T	K|K	-|-	1|2	0|0	JMJD1C|JMJD1C	64636951|64636951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.610000|2.610000	0.46325|0.46325	0.978000|0.978000	0.38470|0.38470	0.482000|0.482000	0.46254|0.46254	AAA|AAA	.		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64966945	T	G	64966945	3	3	24	1	0	0	0	0	1	0	0	0	7977	1841	64	4	3206	4	JMJD1C	10	64966945	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	82	64966945	70567802	487	3634											
JMJD1C	221037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	64968449	64968449	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:64968449T>G	ENST00000399262.2	-	10	3198	c.2980A>C	c.(2980-2982)Agg>Cgg	p.R994R	JMJD1C_ENST00000542921.1_Silent_p.R812R|JMJD1C_ENST00000399251.1_Silent_p.R775R|JMJD1C_ENST00000402544.1_Silent_p.R775R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	994					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)					ACAAAATGCCTATGTAAGTGA	0.413																																					p.R994R		.											.	.	.	0			c.A2980C						.						147	136	140					10																	64968449		1894	4115	6009	SO:0001819	synonymous_variant	221037	exon10			AATGCCTATGTAA	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.2980A>C	10.37:g.64968449T>G		47	0		38	11	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	CCDS41532.1																																																																																			.		0.413	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64968449	T	G	64968449	2	3	24	1	0	0	0	0	0	0	0	1	7977	1521	53	4		4	JMJD1C	10	64968449	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1504	64968449	70566298	488	3635											
LRRTM3	347731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	68686686	68686686	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:68686686T>C	ENST00000361320.4	+	2	590	c.12T>C	c.(10-12)aaT>aaC	p.N4N	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	4					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						CAGGTTTCAATGTAATTAGGC	0.378																																					p.N4N		.											.	.	.	0			c.T12C						.						52	49	50					10																	68686686		2203	4300	6503	SO:0001819	synonymous_variant	347731	exon2			TTTCAATGTAATT	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.12T>C	10.37:g.68686686T>C		51	0		36	19	NM_178011	A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	CCDS7270.1																																																																																			.		0.378	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		C	68686686	T	C	68686686	2	2	24	1	0	0	0	0	0	0	0	1	9076	1461	51	4		4	LRRTM3	10	68686686	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3718237	68686686	66848061	489	3636											
SLC25A16	8034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	70243272	70243272	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:70243272G>A	ENST00000609923.1	-	9	1014	c.916C>T	c.(916-918)Ctt>Ttt	p.L306F	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.L208F	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	306					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATGTAATTAAGAGATAAACCA	0.368																																					p.L306F		.											.	.	.	0			c.C916T						.						144	141	142					10																	70243272		2203	4300	6503	SO:0001583	missense	8034	exon9			AATTAAGAGATAA	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"Solute carriers"	10986	protein-coding gene	gene with protein product	"Graves disease autoantigen"	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.916C>T	10.37:g.70243272G>A	ENSP00000476815:p.Leu306Phe	69	0		52	20	NM_152707	Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794539	0.90453	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.79653	-1.29;-1.29	5.67	5.67	0.87782	Mitochondrial carrier domain (2);	0.065640	0.64402	D	0.000006	D	0.90738	0.7093	M	0.90650	3.135	0.80722	D	1	D	0.62365	0.991	D	0.70487	0.969	D	0.90674	0.4600	10	0.40728	T	0.16	-9.1114	14.9135	0.70776	0.0703:0.0:0.9297:0.0	.	306	P16260	GDC_HUMAN	F	306;208	ENSP00000265870:L306F;ENSP00000443914:L208F	ENSP00000265870:L306F	L	-	1	0	SLC25A16	69913278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.856000	0.86956	2.682000	0.91365	0.555000	0.69702	CTT	.		0.368	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			A	70243272	G	A	70243272	3	1	24	1	0	0	0	0	1	0	0	0	14523	942	33	3	86	3	SLC25A16	10	70243272	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1556586	70243272	65291475	490	3637											
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	73569791	73569791	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:73569791C>T	ENST00000224721.6	+	60	8957	c.8952C>T	c.(8950-8952)ctC>ctT	p.L2984L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L739L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2979					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						TCCACCTGCTCTCCAACATCA	0.612																																					p.L2979L		.											.	.	.	0			c.C8937T						.						60	61	60					10																	73569791		2071	4184	6255	SO:0001819	synonymous_variant	64072	exon59			CCTGCTCTCCAAC	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.8952C>T	10.37:g.73569791C>T		10	0		13	6	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				.		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73569791	C	T	73569791	2	4	24	1	0	0	0	0	0	0	0	1	3115	900	32	3		3	CDH23	10	73569791	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3326519	73569791	61964956	491	3638											
DNAJC9	23234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	75006528	75006528	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:75006528T>C	ENST00000372950.4	-	2	1911	c.239A>G	c.(238-240)gAg>gGg	p.E80G	DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000416782.2_3'UTR|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	80	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)					TGTTCCCTGCTCATCGTACAC	0.522																																					p.E80G		.											.	.	.	0			c.A239G						.						97	87	90					10																	75006528		2203	4300	6503	SO:0001583	missense	23234	exon2			CCCTGCTCATCGT	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.239A>G	10.37:g.75006528T>C	ENSP00000362041:p.Glu80Gly	67	0		48	14	NM_015190	B2RMW6	Missense_Mutation	SNP	ENST00000372950.4	37	CCDS7322.1	.	.	.	.	.	.	.	.	.	.	T	36	5.616309	0.96649	.	.	ENSG00000213551	ENST00000372950	T	0.73363	-0.74	5.49	5.49	0.81192	Heat shock protein DnaJ, N-terminal (3);	0.046192	0.85682	D	0.000000	D	0.85809	0.5783	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.87535	0.2455	10	0.66056	D	0.02	.	13.5326	0.61631	0.0:0.0:0.0:1.0	.	80	Q8WXX5	DNJC9_HUMAN	G	80	ENSP00000362041:E80G	ENSP00000362041:E80G	E	-	2	0	DNAJC9	74676534	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.988000	0.88194	2.088000	0.63022	0.482000	0.46254	GAG	.		0.522	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190		C	75006528	T	C	75006528	3	2	24	1	0	0	0	0	1	0	0	0	4670	1551	54	4	559	4	DNAJC9	10	75006528	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1436737	75006528	60528219	492	3639											
MRPS16	51021	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	75011619	75011619	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:75011619T>G	ENST00000372945.3	-	2	386	c.176A>C	c.(175-177)aAc>aCc	p.N59T	RP11-152N13.5_ENST00000394864.2_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000416782.2_Missense_Mutation_p.N59T|DNAJC9_ENST00000372950.4_5'Flank|RP11-152N13.5_ENST00000457147.1_RNA|MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Missense_Mutation_p.N59T|RP11-152N13.5_ENST00000457758.1_RNA|TTC18_ENST00000493787.1_5'Flank|DNAJC9-AS1_ENST00000440197.2_RNA	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	59					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TCCATGACTGTTGGGCAATGG	0.547																																					p.N59T		.											.	.	.	0			c.A176C						.						115	106	109					10																	75011619		2203	4300	6503	SO:0001583	missense	51021	exon2			TGACTGTTGGGCA	AB051351	CCDS7323.1	10q22.1	2012-09-13			ENSG00000182180	ENSG00000182180		"Mitochondrial ribosomal proteins / small subunits"	14048	protein-coding gene	gene with protein product		609204				10810093	Standard	NM_016065		Approved	CGI-132	uc001jts.1	Q9Y3D3	OTTHUMG00000018454	ENST00000372945.3:c.176A>C	10.37:g.75011619T>G	ENSP00000362036:p.Asn59Thr	76	0		47	21	NM_016065	B4E032|Q96Q60	Missense_Mutation	SNP	ENST00000372945.3	37	CCDS7323.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106269	0.77096	.	.	ENSG00000182180	ENST00000416782;ENST00000372945;ENST00000372940	T;T;T	0.47177	0.87;0.85;0.9	5.33	5.33	0.75918	Ribosomal protein S16 domain (2);	0.000000	0.85682	U	0.000000	T	0.64713	0.2623	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.62572	-0.6826	10	0.25106	T	0.35	-14.2755	13.2804	0.60210	0.0:0.0:0.0:1.0	.	59	Q9Y3D3	RT16_HUMAN	T	59	ENSP00000408812:N59T;ENSP00000362036:N59T;ENSP00000362031:N59T	ENSP00000362031:N59T	N	-	2	0	MRPS16	74681625	1.000000	0.71417	0.998000	0.56505	0.634000	0.38068	7.283000	0.78640	2.020000	0.59435	0.533000	0.62120	AAC	.		0.547	MRPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048616.1			G	75011619	T	G	75011619	3	3	24	1	0	0	0	0	1	0	0	0	9864	1725	60	4	245	4	MRPS16	10	75011619	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5091	75011619	60523128	493	3640											
PPP3CB	5532	broad.mit.edu	37	10	75255630	75255630	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:75255630C>A	ENST00000360663.5	-	1	129	c.18G>T	c.(16-18)ccG>ccT	p.P6P	RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|PPP3CB_ENST00000394822.2_Silent_p.P6P|USP54_ENST00000497106.1_5'Flank|PPP3CB_ENST00000394829.2_Silent_p.P6P|PPP3CB_ENST00000545874.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|PPP3CB_ENST00000394828.2_Silent_p.P6P|PPP3CB_ENST00000342558.3_Silent_p.P6P|RP11-137L10.6_ENST00000596320.1_RNA			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	6	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	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 phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CAGCCCGGGCCGGCTCCGGGG	0.811																																					p.P6P													.	PPP3CB	68	0			c.G18T						.						1	1	1					10																	75255630		125	447	572	SO:0001819	synonymous_variant	5532	exon1			CCGGGCCGGCTCC	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.18G>T	10.37:g.75255630C>A		16	0		17	10	NM_001142354	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Silent	SNP	ENST00000360663.5	37	CCDS7328.1																																																																																			.		0.811	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		A	75255630	C	A	75255630	2	1	24	1	0	0	0	0	0	0	0	1	12440	639	23	2		2	PPP3CB	10	75255630	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	244011	75255630	60279117	494	3641											
KCNMA1	3778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	79011006	79011006	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:79011006T>G	ENST00000286628.8	-	3	548	c.549A>C	c.(547-549)ttA>ttC	p.L183F	KCNMA1_ENST00000354353.5_Missense_Mutation_p.L183F|KCNMA1_ENST00000404857.1_Missense_Mutation_p.L183F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.L183F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.L183F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.L183F|KCNMA1_ENST00000286627.5_Missense_Mutation_p.L183F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.L183F	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	183					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)	GAGCAAAGACTAAGACAACCT	0.383											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L183F		.											.	.	.	0			c.A549C						.						120	121	121					10																	79011006		2203	4300	6503	SO:0001583	missense	3778	exon3			AAAGACTAAGACA	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.549A>C	10.37:g.79011006T>G	ENSP00000286628:p.Leu183Phe	76	0	1187	42	14	NM_001161352	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.84|17.84|17.84	3.488547|3.488547|3.488547	0.64074|0.64074|0.64074	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372421|ENST00000372403	D;D;D;D;D;D;D;D;D|.|.	0.97888|.|.	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59|.|.	5.33|5.33|5.33	1.7|1.7|1.7	0.24286|0.24286|0.24286	.|.|.	0.263417|.|.	0.30969|.|.	N|.|.	0.008504|.|.	T|T|.	0.60011|0.60011|.	0.2236|0.2236|.	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.54753|0.54753|0.54753	D|D|D	0.999983|0.999983|0.999983	D;D;D;D;D|.|.	0.71674|.|.	0.97;0.982;0.97;0.998;0.97|.|.	D;D;D;D;D|.|.	0.72982|.|.	0.934;0.97;0.934;0.979;0.934|.|.	T|T|.	0.53158|0.53158|.	-0.8478|-0.8478|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-7.3448|-7.3448|-7.3448	8.1678|8.1678|8.1678	0.31237|0.31237|0.31237	0.0:0.2253:0.0:0.7747|0.0:0.2253:0.0:0.7747|0.0:0.2253:0.0:0.7747	.|.|.	183;183;183;183;183|.|.	B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.|.	.;.;KCMA1_HUMAN;.;.|.|.	F|R|S	183;120;118;157;120;183;183;157;183;183;183|172|134	ENSP00000361517:L183F;ENSP00000361485:L120F;ENSP00000361514:L118F;ENSP00000396608:L157F;ENSP00000361520:L183F;ENSP00000286627:L183F;ENSP00000385552:L183F;ENSP00000346321:L183F;ENSP00000385806:L183F|.|.	ENSP00000286627:L183F|.|.	L|S|X	-|-|-	3|1|2	2|0|0	KCNMA1|KCNMA1|KCNMA1	78681012|78681012|78681012	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	2.347000|2.347000|2.347000	0.44036|0.44036|0.44036	0.105000|0.105000|0.105000	0.17753|0.17753|0.17753	-0.297000|-0.297000|-0.297000	0.09499|0.09499|0.09499	TTA|AGT|TAG	.		0.383	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		G	79011006	T	G	79011006	3	3	24	1	0	0	0	0	1	0	0	0	8100	1519	53	4	3437	4	KCNMA1	10	79011006	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3755376	79011006	56523741	495	3642											
RPS24	6229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	79814760	79814760	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:79814760G>T	ENST00000440692.1	+	5	1004	c.862G>T	c.(862-864)Ggc>Tgc	p.G288C		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)			ctctggtctgggccactaatg	0.547																																					p.G288C		.											.	.	.	0			c.G862T						.						33	31	32					10																	79814760		692	1591	2283	SO:0001583	missense	6229	exon5			GGTCTGGGCCACT	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.862G>T	10.37:g.79814760G>T	ENSP00000414321:p.Gly288Cys	23	0		24	12	NM_001142285	E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	ENST00000440692.1	37	CCDS44443.1	.	.	.	.	.	.	.	.	.	.	G	7.410	0.634532	0.14322	.	.	ENSG00000138326	ENST00000440692	.	.	.	1.86	-0.0979	0.13631	.	.	.	.	.	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	P	0.47075	0.536	T	0.10894	-1.0610	7	.	.	.	.	3.9315	0.09288	0.4426:0.0:0.5574:0.0	.	288	E7EPK6	.	C	288	.	.	G	+	1	0	RPS24	79484766	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.231000	0.09069	-0.018000	0.14079	-0.222000	0.12452	GGC	.		0.547	RPS24-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001026		T	79814760	G	T	79814760	3	4	24	1	0	0	0	0	1	0	0	0	13680	1232	43	3	919	3	RPS24	10	79814760	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	803754	79814760	55719987	496	3643											
MMRN2	79812	bcgsc.ca	37	10	88703690	88703690	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:88703690G>A	ENST00000372027.5	-	6	1172	c.851C>T	c.(850-852)gCt>gTt	p.A284V	MMRN2_ENST00000488950.1_5'UTR	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	284					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CTGGAAGTCAGCCCTGGCCAC	0.612																																					p.A284V													.	MMRN2	49	0			c.C851T						.						61	57	59					10																	88703690		2203	4300	6503	SO:0001583	missense	79812	exon6			AAGTCAGCCCTGG	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.851C>T	10.37:g.88703690G>A	ENSP00000361097:p.Ala284Val	21	0		10	3	NM_024756	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884345	0.33255	.	.	ENSG00000173269	ENST00000372027	T	0.15017	2.46	5.19	-0.422	0.12329	.	0.987031	0.08259	N	0.973281	T	0.13200	0.0320	M	0.64997	1.995	0.09310	N	1	P;B	0.35077	0.483;0.031	B;B	0.24974	0.057;0.01	T	0.27536	-1.0071	10	0.33940	T	0.23	1.0E-4	3.1426	0.06461	0.1452:0.0986:0.4187:0.3375	.	223;284	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	V	284	ENSP00000361097:A284V	ENSP00000361097:A284V	A	-	2	0	MMRN2	88693670	0.000000	0.05858	0.006000	0.13384	0.758000	0.43043	0.012000	0.13287	0.171000	0.19730	0.561000	0.74099	GCT	.		0.612	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		A	88703690	G	A	88703690	3	1	24	1	0	0	0	0	1	0	0	0	9709	971	34	3	2006	3	MMRN2	10	88703690	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	8888930	88703690	46831057	497	3644											
PTEN	5728	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	89720806	89720806	+	Frame_Shift_Del	DEL	T	T	-	rs398123330		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:89720806delT	ENST00000371953.3	+	8	2314	c.957delT	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		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.T319fs*1(24)|p.L318fs*2(11)|p.R55fs*1(5)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(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)		TAGTACTTACTTTAACAAAAA	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.T319fs		.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	.,6	.	3652	96	Deletion - Frameshift(50)|Whole gene deletion(37)|Deletion - In frame(6)|Unknown(2)|Insertion - Frameshift(1)	central_nervous_system(25)|endometrium(22)|prostate(17)|skin(8)|lung(4)|breast(4)|ovary(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	c.956delC						.						89	90	90					10																	89720806		2203	4299	6502	SO:0001589	frameshift_variant	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.	ACTTACTTTAACA	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.957delT	10.37:g.89720806delT	ENSP00000361021:p.Thr319fs	112	0		61	16	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																			.		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720806	T	-	89720806	7	5	24	1	0	1	0	1	0	0	0	0	12780	1596	56	0	987	0	PTEN	10	89720806	Frame_Shift_Del	DEL	T	TCGA-W5-AA39-01A-11D-A417-09	1017116	89720806	45813941	498	3645	33	2									
PTEN	5728	hgsc.bcm.edu;bcgsc.ca	37	10	89720807	89720807	+	Missense_Mutation	SNP	T	T	G	rs398123330		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:89720807T>G	ENST00000371953.3	+	8	2315	c.958T>G	c.(958-960)Tta>Gta	p.L320V	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	320	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.T319fs*1(24)|p.R55fs*1(5)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L320V(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(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)		AGTACTTACTTTAACAAAAAA	0.328		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.L320V		.	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	PTEN,caecum,carcinoma,-1,1	PTEN	-1	84	Deletion - Frameshift(39)|Whole gene deletion(37)|Deletion - In frame(4)|Unknown(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	central_nervous_system(19)|endometrium(18)|prostate(17)|skin(8)|lung(4)|breast(4)|ovary(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)	c.T958G						.						89	90	89					10																	89720807		2203	4299	6502	SO:0001583	missense	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.	CTTACTTTAACAA	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.958T>G	10.37:g.89720807T>G	ENSP00000361021:p.Leu320Val	114	0		60	19	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.784683	0.70222	.	.	ENSG00000171862	ENST00000371953	D	0.89485	-2.52	5.37	3.03	0.35002	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	M	0.75264	2.295	0.58432	D	0.999998	D	0.67145	0.996	D	0.65573	0.936	D	0.89797	0.3972	9	.	.	.	-7.0909	8.2636	0.31799	0.0:0.2352:0.0:0.7648	.	320	P60484	PTEN_HUMAN	V	320	ENSP00000361021:L320V	.	L	+	1	2	PTEN	89710787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.997000	0.49457	0.357000	0.24183	0.482000	0.46254	TTA	.		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89720807	T	G	89720807	3	3	24	1	0	0	0	0	1	0	0	0	12780	1838	64	4	988	4	PTEN	10	89720807	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1	89720807	45813940	499	3646	33	2									
PCGF5	84333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	93021177	93021177	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:93021177A>G	ENST00000336126.5	+	7	801	c.569A>G	c.(568-570)tAt>tGt	p.Y190C	PCGF5_ENST00000543648.1_Missense_Mutation_p.Y190C	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CCAAGTTCTTATGAGGTAAGT	0.254																																					p.Y190C	Colon(178;732 2696 46441 50370)	.											.	.	.	0			c.A569G						.						18	21	20					10																	93021177		2165	4251	6416	SO:0001583	missense	84333	exon7			GTTCTTATGAGGT	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	28264	protein-coding gene	gene with protein product			"ring finger protein (C3HC4 type) 159"	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.569A>G	10.37:g.93021177A>G	ENSP00000337500:p.Tyr190Cys	224	0		157	63	NM_001256549	B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	ENST00000336126.5	37	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660452	0.67586	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.46819	0.86;0.86	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.61525	-0.7045	10	0.38643	T	0.18	-22.1839	15.8457	0.78887	1.0:0.0:0.0:0.0	.	190	Q86SE9	PCGF5_HUMAN	C	190	ENSP00000445704:Y190C;ENSP00000337500:Y190C	ENSP00000337500:Y190C	Y	+	2	0	PCGF5	93011157	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.131000	0.65755	0.459000	0.35465	TAT	.		0.254	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		G	93021177	A	G	93021177	3	3	24	1	0	0	0	0	1	0	0	0	11616	449	16	4	591	4	PCGF5	10	93021177	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3300370	93021177	42513570	500	3647											
PPP1R3C	5507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	93390426	93390426	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:93390426T>C	ENST00000238994.5	-	2	296	c.212A>G	c.(211-213)cAg>cGg	p.Q71R		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)				CCAGTCATTCTGTGATTTGGC	0.458																																					p.Q71R		.											.	.	.	0			c.A212G						.						172	169	170					10																	93390426		2203	4300	6503	SO:0001583	missense	5507	exon2			TCATTCTGTGATT	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.212A>G	10.37:g.93390426T>C	ENSP00000238994:p.Gln71Arg	88	0		51	29	NM_005398		Missense_Mutation	SNP	ENST00000238994.5	37	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	5.080	0.200389	0.09652	.	.	ENSG00000119938	ENST00000238994;ENST00000438999	T	0.42131	0.98	5.79	5.79	0.91817	.	0.428734	0.24384	N	0.038988	T	0.27134	0.0665	L	0.31664	0.95	0.19300	N	0.99998	B	0.14012	0.009	B	0.08055	0.003	T	0.16188	-1.0411	10	0.17369	T	0.5	-11.806	7.2004	0.25877	0.0:0.0726:0.1478:0.7797	.	71	Q9UQK1	PPR3C_HUMAN	R	71	ENSP00000238994:Q71R	ENSP00000238994:Q71R	Q	-	2	0	PPP1R3C	93380406	0.979000	0.34478	0.999000	0.59377	0.951000	0.60555	0.724000	0.25954	2.207000	0.71202	0.533000	0.62120	CAG	.		0.458	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		C	93390426	T	C	93390426	3	2	24	1	0	0	0	0	1	0	0	0	12415	1580	55	4	745	4	PPP1R3C	10	93390426	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	369249	93390426	42144321	501	3648											
IDE	3416	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	94223499	94223499	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:94223499T>C	ENST00000265986.6	-	21	2806	c.2750A>G	c.(2749-2751)aAt>aGt	p.N917S	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.N362S	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	917					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TCTGTCAAAATTATATTGCTG	0.373																																					p.N917S		.											.	.	.	0			c.A2750G						.						132	130	131					10																	94223499		2203	4300	6503	SO:0001583	missense	3416	exon21			TCAAAATTATATT	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2750A>G	10.37:g.94223499T>C	ENSP00000265986:p.Asn917Ser	79	0		46	21	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367143	0.41902	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.32272	1.49;1.46	5.61	5.61	0.85477	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.110594	0.64402	D	0.000017	T	0.39009	0.1062	M	0.61703	1.905	0.54753	D	0.999987	P;D	0.58970	0.777;0.984	B;P	0.49953	0.292;0.627	T	0.20405	-1.0276	10	0.10111	T	0.7	-13.7353	16.0994	0.81158	0.0:0.0:0.0:1.0	.	917;362	P14735;B3KSB8	IDE_HUMAN;.	S	917;362	ENSP00000265986:N917S;ENSP00000360637:N362S	ENSP00000265986:N917S	N	-	2	0	IDE	94213479	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	7.760000	0.85248	2.261000	0.74972	0.533000	0.62120	AAT	.		0.373	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		C	94223499	T	C	94223499	3	2	24	1	0	0	0	0	1	0	0	0	7520	1493	52	4	329	4	IDE	10	94223499	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	833073	94223499	41311248	502	3649											
C10orf62	414157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	99350107	99350107	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:99350107T>C	ENST00000370640.3	+	1	658	c.453T>C	c.(451-453)gcT>gcC	p.A151A	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	151										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		GGGCCATAGCTTACCAGCACT	0.602																																					p.A151A		.											.	.	.	0			c.T453C						.						68	67	67					10																	99350107		2203	4300	6503	SO:0001819	synonymous_variant	414157	exon1			CATAGCTTACCAG		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.453T>C	10.37:g.99350107T>C		50	0		35	15	NM_001009997	Q49A70|Q8N3Y6	Silent	SNP	ENST00000370640.3	37	CCDS31261.1																																																																																			.		0.602	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		C	99350107	T	C	99350107	2	2	24	1	0	0	0	0	0	0	0	1	1616	1596	56	4		4	C10orf62	10	99350107	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5126608	99350107	36184640	503	3650											
HPSE2	60495	broad.mit.edu	37	10	100904026	100904026	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:100904026G>T	ENST00000370552.3	-	3	638	c.579C>A	c.(577-579)ttC>ttA	p.F193L	HPSE2_ENST00000370549.1_Missense_Mutation_p.F193L|HPSE2_ENST00000370546.1_Missense_Mutation_p.F193L|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	193					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)		AAGTATTGGAGAATTGCTCCT	0.423																																					p.F193L													.	HPSE2	203	0			c.C579A						.						108	104	105					10																	100904026		2203	4300	6503	SO:0001583	missense	60495	exon3			ATTGGAGAATTGC	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.579C>A	10.37:g.100904026G>T	ENSP00000359583:p.Phe193Leu	19	0		12	3	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314293	0.23908	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546	T;T;T	0.28666	7.25;1.6;7.25	5.97	5.06	0.68205	Glycoside hydrolase, superfamily (1);	0.260739	0.34700	N	0.003749	T	0.08802	0.0218	N	0.00707	-1.245	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.16158	-1.0412	10	0.11485	T	0.65	-5.1364	9.6581	0.39939	0.1973:0.0:0.8027:0.0	.	193;193;193	Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	L	193	ENSP00000359583:F193L;ENSP00000359580:F193L;ENSP00000359577:F193L	ENSP00000359577:F193L	F	-	3	2	HPSE2	100894016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.775000	0.38584	1.529000	0.49120	0.655000	0.94253	TTC	.		0.423	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		T	100904026	G	T	100904026	3	4	24	1	0	0	0	0	1	0	0	0	7372	933	33	3	1277	3	HPSE2	10	100904026	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1553919	100904026	34630721	504	3651											
ABCC2	1244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	101544402	101544402	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:101544402C>A	ENST00000370449.4	+	2	184	c.71C>A	c.(70-72)cCa>cAa	p.P24Q	ABCC2_ENST00000370434.1_Missense_Mutation_p.P24Q	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	24					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)	GCAGACCTGCCACTTTGTTTT	0.517																																					p.P24Q		.											.	.	.	0			c.C71A						.						153	140	144					10																	101544402		2203	4300	6503	SO:0001583	missense	1244	exon2			ACCTGCCACTTTG	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.71C>A	10.37:g.101544402C>A	ENSP00000359478:p.Pro24Gln	40	0		28	13	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547692	0.86022	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	T;T	0.35048	1.33;1.33	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.83118	2.625	0.58432	D	0.999991	D	0.65815	0.995	P	0.61397	0.888	T	0.64141	-0.6477	10	0.49607	T	0.09	-13.2886	18.5934	0.91222	0.0:1.0:0.0:0.0	.	24	Q92887	MRP2_HUMAN	Q	24	ENSP00000359478:P24Q;ENSP00000359463:P24Q	ENSP00000359463:P24Q	P	+	2	0	ABCC2	101534392	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.466000	0.73543	2.685000	0.91497	0.561000	0.74099	CCA	.		0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		A	101544402	C	A	101544402	3	1	24	1	0	0	0	0	1	0	0	0	53	594	21	3	77	3	ABCC2	10	101544402	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	640376	101544402	33990345	505	3652											
MGEA5	10724	broad.mit.edu;bcgsc.ca	37	10	103577755	103577755	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:103577755T>C	ENST00000361464.3	-	1	420	c.25A>G	c.(25-27)Acg>Gcg	p.T9A	MGEA5_ENST00000439817.1_Missense_Mutation_p.T9A|MGEA5_ENST00000419011.2_Missense_Mutation_p.T9A|MGEA5_ENST00000370094.3_Missense_Mutation_p.T9A|MGEA5_ENST00000357797.5_Missense_Mutation_p.T9A|KCNIP2-AS1_ENST00000412353.1_RNA	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	9					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCCTCCAACGTCGCTTGACTC	0.711																																					p.T9A													.	MGEA5	53	0			c.A25G						.						16	15	15					10																	103577755		2198	4299	6497	SO:0001583	missense	10724	exon1			CCAACGTCGCTTG	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.25A>G	10.37:g.103577755T>C	ENSP00000354850:p.Thr9Ala	28	0		20	5	NM_001142434	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	4.126	0.021694	0.08006	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000419011	T;T;T;T;T	0.38887	1.76;1.72;1.75;1.72;1.11	4.83	1.84	0.25277	.	0.555501	0.18746	N	0.132309	T	0.14270	0.0345	N	0.04508	-0.205	0.25055	N	0.991109	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	0.31308	-0.9948	10	0.02654	T	1	-0.6107	4.6203	0.12447	0.0:0.487:0.1519:0.3611	.	9;9;9;9	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	A	9	ENSP00000409973:T9A;ENSP00000354850:T9A;ENSP00000350445:T9A;ENSP00000359112:T9A;ENSP00000407081:T9A	ENSP00000350445:T9A	T	-	1	0	MGEA5	103567745	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	1.202000	0.32271	0.190000	0.20209	-0.366000	0.07423	ACG	.		0.711	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		C	103577755	T	C	103577755	3	2	24	1	0	0	0	0	1	0	0	0	9593	1667	58	4	2789	4	MGEA5	10	103577755	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2033353	103577755	31956992	506	3653											
XPNPEP1	7511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	111643856	111643856	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:111643856A>G	ENST00000502935.1	-	9	918	c.799T>C	c.(799-801)Tcc>Ccc	p.S267P	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S224P|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.S267P|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S153P					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATTGCGTAGGAGAAAAATACT	0.458											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S267P		.											.	.	.	0			c.T799C						.						193	190	191					10																	111643856		2203	4300	6503	SO:0001583	missense	7511	exon9			CGTAGGAGAAAAA		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.799T>C	10.37:g.111643856A>G	ENSP00000421566:p.Ser267Pro	40	0	1436	36	15	NM_001167604		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300920	0.81136	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.24	5.24	0.73138	.	0.055532	0.64402	D	0.000001	D	0.86623	0.5977	H	0.94808	3.585	0.42906	D	0.994248	D;D;D	0.76494	0.999;0.992;0.976	D;D;P	0.68192	0.956;0.925;0.714	D	0.89552	0.3800	10	0.87932	D	0	-14.7018	10.3877	0.44150	0.7841:0.2159:0.0:0.0	.	267;267;224	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	P	267;153;267;224;224;192	ENSP00000421566:S267P;ENSP00000358697:S153P;ENSP00000324011:S267P;ENSP00000358694:S224P;ENSP00000385388:S224P	ENSP00000324011:S267P	S	-	1	0	XPNPEP1	111633846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.825000	0.62708	2.113000	0.64589	0.533000	0.62120	TCC	.		0.458	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			G	111643856	A	G	111643856	3	3	24	1	0	0	0	0	1	0	0	0	17491	304	11	4	1253	4	XPNPEP1	10	111643856	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8066101	111643856	23890891	507	3654											
ACSL5	51703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	114168254	114168254	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:114168254A>C	ENST00000393081.1	+	6	814	c.507A>C	c.(505-507)gaA>gaC	p.E169D	RP11-324O2.3_ENST00000594870.2_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.E225D|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354273.4_Missense_Mutation_p.E169D|ACSL5_ENST00000369410.3_5'Flank|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.E169D|ACSL5_ENST00000433418.1_Missense_Mutation_p.E169D	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	169					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)		TGGGACCAGAAGCCATCGTAC	0.388																																					p.E225D		.											.	.	.	0			c.A675C						.						260	211	228					10																	114168254		2203	4300	6503	SO:0001583	missense	51703	exon6			ACCAGAAGCCATC	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.507A>C	10.37:g.114168254A>C	ENSP00000376796:p.Glu169Asp	93	0		57	23	NM_016234	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.544832	0.27563	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.92	-7.0	0.01599	AMP-dependent synthetase/ligase (1);	0.353602	0.34932	N	0.003565	T	0.19366	0.0465	L	0.31207	0.915	0.80722	D	1	B;B;B	0.20887	0.049;0.014;0.005	B;B;B	0.25405	0.06;0.016;0.019	T	0.41556	-0.9502	10	0.06494	T	0.89	-5.6934	1.0009	0.01477	0.2689:0.2954:0.1219:0.3139	.	169;225;169	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	D	169;169;225;169;169	ENSP00000346680:E169D;ENSP00000376796:E169D;ENSP00000348429:E225D;ENSP00000403647:E169D;ENSP00000346223:E169D	ENSP00000346223:E169D	E	+	3	2	ACSL5	114158244	0.512000	0.26186	0.731000	0.30826	0.980000	0.70556	-0.218000	0.09240	-1.338000	0.02233	0.523000	0.50628	GAA	.		0.388	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		C	114168254	A	C	114168254	3	2	24	1	0	0	0	0	1	0	0	0	180	69	3	4	697	4	ACSL5	10	114168254	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2524398	114168254	21366493	508	3655											
NHLRC2	374354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	115657896	115657896	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:115657896T>C	ENST00000369301.3	+	6	1279	c.1067T>C	c.(1066-1068)tTa>tCa	p.L356S		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	356										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)		GGTGACATTTTATGGATAGCC	0.373																																					p.L356S		.											.	.	.	0			c.T1067C						.						40	41	41					10																	115657896		2203	4300	6503	SO:0001583	missense	374354	exon6			ACATTTTATGGAT	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.1067T>C	10.37:g.115657896T>C	ENSP00000358307:p.Leu356Ser	229	0		108	45	NM_198514	Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529598	0.85706	.	.	ENSG00000196865	ENST00000369301	D	0.92495	-3.05	5.92	5.92	0.95590	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.96935	0.8999	M	0.92880	3.355	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.97760	1.0220	10	0.87932	D	0	-9.7543	14.9492	0.71057	0.0:0.0:0.0:1.0	.	356	Q8NBF2	NHLC2_HUMAN	S	356	ENSP00000358307:L356S	ENSP00000358307:L356S	L	+	2	0	NHLRC2	115647886	1.000000	0.71417	0.934000	0.37439	0.940000	0.58332	7.809000	0.86057	2.277000	0.76020	0.528000	0.53228	TTA	.		0.373	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		C	115657896	T	C	115657896	3	2	24	1	0	0	0	0	1	0	0	0	10445	1764	61	4	1089	4	NHLRC2	10	115657896	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1489642	115657896	19876851	509	3656											
INPP5F	79892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	121587136	121587136	+	IGR	SNP	T	T	A	rs552783556		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:121587136T>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Silent_p.V1081V|INPP5F_ENST00000369080.3_Silent_p.V471V	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						TGGTCCAGGTTGCTAGTATTA	0.458													T|||	1	0.000199681	0	0	5008	,	,		18513	0		0	False		,,,				2504	0.001				p.V1081V		.											.	.	.	0			c.T3243A						.						92	93	92					10																	121587136		2203	4300	6503	SO:0001628	intergenic_variant	22876	exon20			CCAGGTTGCTAGT	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.121587136T>A		87	0		56	22	NM_014937	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	CCDS7617.1																																																																																			.		0.458	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		A	121587136	T	A	121587136	1	1	24	0	1	0	0	0	0	0	0	0	7785	1799	63	5		5	INPP5F	10	121587136	IGR	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5929240	121587136	13947611	510	3657											
ATE1	11101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	123670610	123670610	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:123670610T>C	ENST00000224652.6	-	5	479	c.394A>G	c.(394-396)Aat>Gat	p.N132D	ATE1_ENST00000540606.1_Missense_Mutation_p.N125D|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000369043.3_Missense_Mutation_p.N132D|ATE1_ENST00000543447.1_Missense_Mutation_p.N17D|ATE1_ENST00000369040.3_Missense_Mutation_p.N36D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	132					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)				TCCAGTTTATTTATCAATGCA	0.368																																					p.N132D		.											.	.	.	0			c.A394G						.						121	124	123					10																	123670610		2203	4300	6503	SO:0001583	missense	11101	exon5			GTTTATTTATCAA	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.394A>G	10.37:g.123670610T>C	ENSP00000224652:p.Asn132Asp	31	0		26	6	NM_001001976	O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.37|13.37	2.216263|2.216263	0.39201|0.39201	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000423243|ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447;ENST00000455628	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.401742	.|0.26951	.|N	.|0.021679	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.14012	.|0.009;0.004;0.009;0.007	.|B;B;B;B	.|0.20384	.|0.029;0.006;0.006;0.012	T|T	0.49513|0.49513	-0.8932|-0.8932	5|9	.|0.13853	.|T	.|0.58	-21.2161|-21.2161	14.6826|14.6826	0.69028|0.69028	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|125;36;132;132	.|F5GXE4;B4E107;O95260;O95260-2	.|.;.;ATE1_HUMAN;.	R|D	128|132;132;36;125;17;125	.|.	.|ENSP00000224652:N132D	K|N	-|-	2|1	0|0	ATE1|ATE1	123660600|123660600	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.915000|0.915000	0.54546|0.54546	4.488000|4.488000	0.60300|0.60300	2.207000|2.207000	0.71202|0.71202	0.460000|0.460000	0.39030|0.39030	AAA|AAT	.		0.368	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		C	123670610	T	C	123670610	3	2	24	1	0	0	0	0	1	0	0	0	1079	1841	64	4	1327	4	ATE1	10	123670610	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2083474	123670610	11864137	511	3658											
IKZF5	64376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	124758099	124758099	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:124758099A>T	ENST00000368886.5	-	3	363	c.43T>A	c.(43-45)Ttt>Att	p.F15I	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	15					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)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TATTCCTGAAAATCTTTCACG	0.398																																					p.F15I		.											.	.	.	0			c.T43A						.						137	124	128					10																	124758099		1842	4089	5931	SO:0001583	missense	64376	exon3			CCTGAAAATCTTT	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	14283	protein-coding gene	gene with protein product		606238	"zinc finger protein, subfamily 1A, 5", "zinc finger protein, subfamily 1A, 5 (Pegasus)"	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.43T>A	10.37:g.124758099A>T	ENSP00000357881:p.Phe15Ile	78	0		60	22	NM_001271840	B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	A	35	5.583448	0.96578	.	.	ENSG00000095574	ENST00000368886	T	0.09073	3.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01428	-1.1357	10	0.39692	T	0.17	-27.6006	16.8222	0.85835	1.0:0.0:0.0:0.0	.	15	Q9H5V7	IKZF5_HUMAN	I	15	ENSP00000357881:F15I	ENSP00000357881:F15I	F	-	1	0	IKZF5	124748089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.868000	0.92320	2.371000	0.80710	0.533000	0.62120	TTT	.		0.398	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		T	124758099	A	T	124758099	3	4	24	1	0	0	0	0	1	0	0	0	7645	14	1	5	1228	5	IKZF5	10	124758099	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1087489	124758099	10776648	512	3659											
STK32C	282974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	134039116	134039116	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:134039116A>C	ENST00000368622.1	-	6	717	c.336T>G	c.(334-336)caT>caG	p.H112Q	STK32C_ENST00000368625.4_Missense_Mutation_p.H242Q					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)		TCAGGTGTGCATGTCCTGTGC	0.622																																					p.H229Q		.											.	.	.	0			c.T687G						.						203	176	185					10																	134039116		2203	4300	6503	SO:0001583	missense	282974	exon6			GTGTGCATGTCCT	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.336T>G	10.37:g.134039116A>C	ENSP00000357611:p.His112Gln	32	0		17	7	NM_173575		Missense_Mutation	SNP	ENST00000368622.1	37		.	.	.	.	.	.	.	.	.	.	A	12.41	1.930756	0.34096	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.63913	-0.07;-0.07;-0.07	4.45	-6.97	0.01616	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	0.70369	0.3216	L	0.61387	1.9	0.45607	D	0.998548	D;D;D	0.76494	0.996;0.999;0.998	D;D;D	0.81914	0.975;0.991;0.995	T	0.76498	-0.2937	10	0.87932	D	0	.	15.1965	0.73096	0.6734:0.0:0.3266:0.0	.	242;168;229	B7Z7J1;F2Z300;Q86UX6	.;.;ST32C_HUMAN	Q	112;229;242	ENSP00000357611:H112Q;ENSP00000298630:H229Q;ENSP00000357614:H242Q	ENSP00000298630:H229Q	H	-	3	2	STK32C	133889106	0.036000	0.19791	0.155000	0.22561	0.222000	0.24845	-0.594000	0.05733	-1.494000	0.01833	-0.973000	0.02599	CAT	.		0.622	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		C	134039116	A	C	134039116	3	2	24	1	0	0	0	0	1	0	0	0	15346	214	8	4	801	4	STK32C	10	134039116	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	9281017	134039116	1495631	513	3660											
PAOX	196743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	135193724	135193724	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:135193724T>C	ENST00000278060.5	+	2	486	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000480071.2_Missense_Mutation_p.Y135H|PAOX_ENST00000357296.3_Missense_Mutation_p.Y135H	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	273					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)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		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;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GACTCTGTTCTACGGCCTGAT	0.677																																					p.Y135H		.											.	.	.	0			c.T403C						.						40	40	40					10																	135193724		2200	4298	6498	SO:0001583	missense	196743	exon2			CTGTTCTACGGCC	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.403T>C	10.37:g.135193724T>C	ENSP00000278060:p.Tyr135His	77	0		43	21	NM_207128	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	T	3.500	-0.102086	0.06967	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071;ENST00000368534	T;T;T	0.09445	2.98;2.98;2.98	4.88	3.75	0.43078	.	0.737030	0.13512	N	0.382425	T	0.09069	0.0224	L	0.41027	1.25	0.50813	D	0.999898	B;B;B	0.18461	0.028;0.005;0.015	B;B;B	0.15484	0.013;0.012;0.009	T	0.12967	-1.0527	10	0.16420	T	0.52	-13.718	8.6814	0.34212	0.0:0.0922:0.0:0.9078	.	135;135;135	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	H	135;135;135;135;6	ENSP00000278060:Y135H;ENSP00000349847:Y135H;ENSP00000435514:Y135H	ENSP00000278060:Y135H	Y	+	1	0	PAOX	135043714	0.000000	0.05858	0.161000	0.22692	0.203000	0.24098	-0.032000	0.12266	0.722000	0.32252	0.460000	0.39030	TAC	.		0.677	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		C	135193724	T	C	135193724	3	2	24	1	0	0	0	0	1	0	0	0	11462	1522	53	4	409	4	PAOX	10	135193724	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1154608	135193724	341023	514	3661											
CYP2E1	1571	bcgsc.ca	37	10	135340926	135340949	+	In_Frame_Del	DEL	CCTGCTGGTGTGGGCGGCCTTCCT	CCTGCTGGTGTGGGCGGCCTTCCT	-	rs543066971|rs563043306|rs367957731|rs375169910		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CCTGCTGGTGTGGGCGGCCTTCCT	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr10:135340926_135340949delCCTGCTGGTGTGGGCGGCCTTCCT	ENST00000463117.2	+	3	299_322	c.27_50delCCTGCTGGTGTGGGCGGCCTTCCT	c.(25-51)gccctgctggtgtgggcggccttcctc>gcc	p.LLVWAAFL10del	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_In_Frame_Del_p.LLVWAAFL10del			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	10					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	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, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|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)	p.A14V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCACCGTGGCCCTGCTGGTGTGGGCGGCCTTCCTCCTGCTGGTG	0.607									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.9_17del													.	CYP2E1	69	1	Substitution - Missense(1)	large_intestine(1)	c.27_50del						.																																			SO:0001651	inframe_deletion	1571	exon1	Familial Cancer Database	incl.: Familial Head and Neck Cancer	CGTGGCCCTGCTG	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.27_50delCCTGCTGGTGTGGGCGGCCTTCCT	10.37:g.135340926_135340949delCCTGCTGGTGTGGGCGGCCTTCCT	ENSP00000440689:p.Leu10_Leu17del	72	0		25	6	NM_000773	Q5VZD5|Q6NWT9|Q9UK47	In_Frame_Del	DEL	ENST00000463117.2	37	CCDS7686.1																																																																																			.		0.607	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		-	135340949	CCTGCTGGTGTGGGCGGCCTTCCT	-	135340926	7	5	24	1	0	1	0	1	0	0	0	0	4179	610	22	0	29	0	CYP2E1	10	135340926	In_Frame_Del	DEL	CCTGCTGGTGTGGGCGGCCTTCCT	TCGA-W5-AA39-01A-11D-A417-09	147202	135340926	193821	515	3662											
PTDSS2	81490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	488603	488603	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:488603G>A	ENST00000308020.5	+	8	986	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	270					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)	GGCTGTCCCTGAAGACGTACA	0.632																																					p.L270L		.											.	.	.	0			c.G810A						.						103	83	90					11																	488603		2202	4300	6502	SO:0001819	synonymous_variant	81490	exon8			GTCCCTGAAGACG	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.810G>A	11.37:g.488603G>A		35	0		19	8	NM_030783		Silent	SNP	ENST00000308020.5	37	CCDS7696.1																																																																																			.		0.632	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			A	488603	G	A	488603	2	1	24	1	0	0	0	0	0	0	0	1	12779	1277	45	3		3	PTDSS2	11	488603	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09		488603	134517913	516	3663											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1263842	1263842	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:1263842C>G	ENST00000529681.1	+	31	5790	c.5732C>G	c.(5731-5733)aCc>aGc	p.T1911S	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1914S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1911	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)		ACAAAGCCGACCACAACAGCC	0.652																																					p.T1911S		.											.	.	.	0			c.C5732G						.						98	125	116					11																	1263842		2174	4244	6418	SO:0001583	missense	727897	exon31			AGCCGACCACAAC	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.5732C>G	11.37:g.1263842C>G	ENSP00000436812:p.Thr1911Ser	78	0		53	24	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	7.483	0.649022	0.14516	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20200	2.09;2.29	2.65	0.594	0.17485	.	.	.	.	.	T	0.07999	0.0200	N	0.10707	0.03	0.09310	N	1	P;P	0.43477	0.808;0.808	B;B	0.30646	0.118;0.118	T	0.21245	-1.0251	9	0.87932	D	0	.	7.1149	0.25411	0.0:0.7215:0.1719:0.1066	.	2604;1914	A7Y9J9;E9PBJ0	.;.	S	1911;1914;1912;1981	ENSP00000436812:T1911S;ENSP00000415793:T1914S	ENSP00000343037:T1912S	T	+	2	0	MUC5B	1220418	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-0.775000	0.04679	0.371000	0.24564	-1.285000	0.01374	ACC	.		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1263842	C	G	1263842	3	3	24	1	0	0	0	0	1	0	0	0	10017	507	18	5	5863	5	MUC5B	11	1263842	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	775239	1263842	133742674	517	3664											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1280229	1280229	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:1280229G>T	ENST00000529681.1	+	44	16709	c.16651G>T	c.(16651-16653)Gac>Tac	p.D5551Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.D5554Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5551	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)		CCTCTCTGGGGACACCCAGGA	0.647																																					p.D5551Y		.											.	.	.	0			c.G16651T						.						36	45	42					11																	1280229		1946	4099	6045	SO:0001583	missense	727897	exon44			TCTGGGGACACCC	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.16651G>T	11.37:g.1280229G>T	ENSP00000436812:p.Asp5551Tyr	82	0		57	20	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349619	0.24426	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T	0.18960	2.18;2.37	4.8	3.87	0.44632	.	.	.	.	.	T	0.36608	0.0973	L	0.60455	1.87	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.68353	0.957;0.957	T	0.15235	-1.0444	9	0.87932	D	0	.	5.5697	0.17190	0.1009:0.0:0.7007:0.1984	.	5888;5554	A7Y9J9;E9PBJ0	.;.	Y	5551;5554;5495;450;5263;96	ENSP00000436812:D5551Y;ENSP00000415793:D5554Y	ENSP00000343037:D5495Y	D	+	1	0	MUC5B	1236805	0.000000	0.05858	0.005000	0.12908	0.273000	0.26683	0.413000	0.21148	2.381000	0.81170	0.561000	0.74099	GAC	.		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1280229	G	T	1280229	3	4	24	1	0	0	0	0	1	0	0	0	10017	1174	41	3	16834	3	MUC5B	11	1280229	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	16387	1280229	133726287	518	3665											
NUP98	4928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	3774554	3774554	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:3774554A>C	ENST00000324932.7	-	11	1679	c.1259T>G	c.(1258-1260)tTt>tGt	p.F420C	NUP98_ENST00000359171.4_Missense_Mutation_p.F420C|NUP98_ENST00000355260.3_Missense_Mutation_p.F420C|NUP98_ENST00000397004.4_Missense_Mutation_p.F420C|NUP98_ENST00000397007.4_Missense_Mutation_p.F437C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	437	FG repeats 2.|Gly/Thr-rich.				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)		ACCTGTTCCAAATCCTGCACC	0.423			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																p.F437C		.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	.	0			c.T1310G						.						86	80	82					11																	3774554		2201	4298	6499	SO:0001583	missense	4928	exon11			GTTCCAAATCCTG	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.1259T>G	11.37:g.3774554A>C	ENSP00000316032:p.Phe420Cys	89	0		42	19	NM_005387	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	21.4|21.4|21.4	4.141666|4.141666|4.141666	0.77775|0.77775|0.77775	.|.|.	.|.|.	ENSG00000110713|ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007|ENST00000527104|ENST00000529379	.|.|.	.|.|.	.|.|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.78457|0.78457|0.78457	0.4286|0.4286|0.4286	M|M|M	0.85777|0.85777|0.85777	2.775|2.775|2.775	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D;D|.|.	0.89917|.|.	1.0;0.999;1.0;1.0|.|.	D;D;D;D|.|.	0.91635|.|.	0.997;0.947;0.999;0.999|.|.	T|T|T	0.81309|0.81309|0.81309	-0.0991|-0.0991|-0.0991	9|5|5	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	14.4955|14.4955|14.4955	0.67683|0.67683|0.67683	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	437;420;420;420|.|.	P52948-3;P52948-4;P52948-2;P52948-5|.|.	.;.;.;.|.|.	C|M|V	420;420;420;420;437|39|69	.|.|.	ENSP00000316032:F420C|.|.	F|I|L	-|-|-	2|3|1	0|3|2	NUP98|NUP98|NUP98	3731130|3731130|3731130	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	7.387000|7.387000|7.387000	0.79785|0.79785|0.79785	2.023000|2.023000|2.023000	0.59567|0.59567|0.59567	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|ATT|TTG	.		0.423	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		C	3774554	A	C	3774554	3	2	24	1	0	0	0	0	1	0	0	0	10812	14	1	4	4256	4	NUP98	11	3774554	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2494325	3774554	131231962	519	3666											
NUP98	4928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	3774605	3774605	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:3774605A>C	ENST00000324932.7	-	11	1628	c.1208T>G	c.(1207-1209)tTt>tGt	p.F403C	NUP98_ENST00000359171.4_Missense_Mutation_p.F403C|NUP98_ENST00000355260.3_Missense_Mutation_p.F403C|NUP98_ENST00000397004.4_Missense_Mutation_p.F403C|NUP98_ENST00000397007.4_Missense_Mutation_p.F420C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	420	FG repeats 2.|Gly/Thr-rich.				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)		TTTACTTCCAAAAATACTATT	0.413			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																p.F420C		.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	.	0			c.T1259G						.						81	81	81					11																	3774605		2201	4298	6499	SO:0001583	missense	4928	exon11			CTTCCAAAAATAC	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.1208T>G	11.37:g.3774605A>C	ENSP00000316032:p.Phe403Cys	111	0		59	29	NM_005387	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	21.9|21.9|21.9	4.212263|4.212263|4.212263	0.79240|0.79240|0.79240	.|.|.	.|.|.	ENSG00000110713|ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007|ENST00000527104|ENST00000529379	.|.|.	.|.|.	.|.|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	D|D|D	0.84674|0.84674|0.84674	0.5524|0.5524|0.5524	M|M|M	0.92691|0.92691|0.92691	3.335|3.335|3.335	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.91635|.|.	0.997;0.997;0.999;0.999|.|.	D|D|D	0.88634|0.88634|0.88634	0.3171|0.3171|0.3171	9|6|5	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	14.4955|14.4955|14.4955	0.67683|0.67683|0.67683	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	420;403;403;403|.|.	P52948-3;P52948-4;P52948-2;P52948-5|.|.	.;.;.;.|.|.	C|L|V	403;403;403;403;420|22|52	.|.|.	ENSP00000316032:F403C|.|.	F|F|L	-|-|-	2|3|1	0|2|2	NUP98|NUP98|NUP98	3731181|3731181|3731181	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	7.387000|7.387000|7.387000	0.79785|0.79785|0.79785	2.023000|2.023000|2.023000	0.59567|0.59567|0.59567	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|TTT|TTG	.		0.413	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		C	3774605	A	C	3774605	3	2	24	1	0	0	0	0	1	0	0	0	10812	14	1	4	4307	4	NUP98	11	3774605	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	51	3774605	131231911	520	3667											
OR51S1	119692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	4870320	4870320	+	Missense_Mutation	SNP	A	A	C	rs139571388	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:4870320A>C	ENST00000322101.2	-	1	194	c.119T>G	c.(118-120)aTt>aGt	p.I40S	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	40						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)		GTAGACAGCAATGAGGGGCAA	0.582																																					p.I40S		.											.	.	.	0			c.T119G						.						106	91	96					11																	4870320		2201	4298	6499	SO:0001583	missense	119692	exon1			ACAGCAATGAGGG	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.119T>G	11.37:g.4870320A>C	ENSP00000322754:p.Ile40Ser	44	0		25	8	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	A	5.909	0.351814	0.11182	.	.	ENSG00000176922	ENST00000322101	T	0.03181	4.02	5.45	4.27	0.50696	.	0.492235	0.17106	N	0.186796	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.39623	-0.9605	10	0.51188	T	0.08	-10.4057	6.9781	0.24688	0.7694:0.1518:0.0788:0.0	.	40	Q8NGJ8	O51S1_HUMAN	S	40	ENSP00000322754:I40S	ENSP00000322754:I40S	I	-	2	0	OR51S1	4826896	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	0.755000	0.26405	2.289000	0.77006	0.460000	0.39030	ATT	.		0.582	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		C	4870320	A	C	4870320	3	2	24	1	0	0	0	0	1	0	0	0	11144	101	4	4	855	4	OR51S1	11	4870320	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1095715	4870320	130136196	521	3668											
TPP1	1200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	6637270	6637270	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:6637270T>G	ENST00000299427.6	-	9	1171	c.1111A>C	c.(1111-1113)Aga>Cga	p.R371R	TPP1_ENST00000533371.1_Silent_p.R128R|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'Flank	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)	AACTGGTGTCTTCCAGAGACA	0.498																																					p.R371R		.											.	.	.	0			c.A1111C						.						109	95	100					11																	6637270		2201	4296	6497	SO:0001819	synonymous_variant	1200	exon9			GGTGTCTTCCAGA	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.1111A>C	11.37:g.6637270T>G		63	0		40	17	NM_000391	Q71V64	Silent	SNP	ENST00000299427.6	37	CCDS7770.1																																																																																			.		0.498	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			G	6637270	T	G	6637270	2	3	24	1	0	0	0	0	0	0	0	1	16459	1617	56	4		4	TPP1	11	6637270	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1766950	6637270	128369246	522	3669											
OR2D3	120775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	6943064	6943064	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:6943064C>T	ENST00000317834.3	+	1	860	c.832C>T	c.(832-834)Cca>Tca	p.P278S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	278						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)		CTACATGCGACCAAACTCCAA	0.433																																					p.P278S		.											.	.	.	0			c.C832T						.						106	104	104					11																	6943064		2201	4296	6497	SO:0001583	missense	120775	exon1			ATGCGACCAAACT	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.832C>T	11.37:g.6943064C>T	ENSP00000320560:p.Pro278Ser	57	0		41	17	NM_001004684	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337104	0.41398	.	.	ENSG00000178358	ENST00000317834	T	0.00262	8.4	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000461	T	0.00524	0.0017	M	0.77712	2.385	0.26862	N	0.967933	D	0.58620	0.983	P	0.62382	0.901	T	0.49881	-0.8892	10	0.87932	D	0	-34.5626	15.3409	0.74296	0.0:1.0:0.0:0.0	.	278	Q8NGH3	OR2D3_HUMAN	S	278	ENSP00000320560:P278S	ENSP00000320560:P278S	P	+	1	0	OR2D3	6899640	0.000000	0.05858	0.991000	0.47740	0.396000	0.30629	-0.131000	0.10482	2.752000	0.94435	0.655000	0.94253	CCA	.		0.433	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		T	6943064	C	T	6943064	3	4	24	1	0	0	0	0	1	0	0	0	11034	507	18	3	834	3	OR2D3	11	6943064	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	305794	6943064	128063452	523	3670											
PPFIBP2	8495	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	7669733	7669733	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:7669733A>C	ENST00000299492.4	+	18	2150	c.1762A>C	c.(1762-1764)Acc>Ccc	p.T588P	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.T445P|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.T476P|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.T430P	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	588	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)		TTCTGGCCACACCTTATTGAC	0.577																																					p.T588P		.											.	.	.	0			c.A1762C						.						176	140	152					11																	7669733		2201	4296	6497	SO:0001583	missense	8495	exon18			GGCCACACCTTAT	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.1762A>C	11.37:g.7669733A>C	ENSP00000299492:p.Thr588Pro	31	0		10	7	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.216144	0.79352	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.87	5.87	0.94306	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	M	0.87758	2.905	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.994;0.905;0.99;0.968;0.998;0.999	T	0.76517	-0.2930	10	0.54805	T	0.06	-15.5192	14.2326	0.65903	1.0:0.0:0.0:0.0	.	476;476;511;430;445;588	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	P	588;430;511;476;445	ENSP00000299492:T588P;ENSP00000436498:T430P;ENSP00000435469:T476P;ENSP00000437321:T445P	ENSP00000299492:T588P	T	+	1	0	PPFIBP2	7626309	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.353000	0.79414	2.248000	0.74166	0.533000	0.62120	ACC	.		0.577	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		C	7669733	A	C	7669733	3	2	24	1	0	0	0	0	1	0	0	0	12353	159	6	4	1828	4	PPFIBP2	11	7669733	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	726669	7669733	127336783	524	3671											
SCUBE2	57758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	9047293	9047293	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:9047293C>T	ENST00000309263.3	-	20	2795	c.2723G>A	c.(2722-2724)gGg>gAg	p.G908E	SCUBE2_ENST00000457346.2_Missense_Mutation_p.G937E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.G716E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.G880E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	908	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		AGCGCTGTTCCCTTCATTGGA	0.502																																					p.G880E		.											.	.	.	0			c.G2639A						.						184	161	168					11																	9047293		2201	4296	6497	SO:0001583	missense	57758	exon20			CTGTTCCCTTCAT	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.2723G>A	11.37:g.9047293C>T	ENSP00000310658:p.Gly908Glu	58	0		46	20	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.328539|5.328539	0.95733|0.95733	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467|ENST00000519202	T;T;T;T|T	0.34275|0.17528	2.34;2.34;1.37;2.34|2.27	5.39|5.39	5.39|5.39	0.77823|0.77823	CUB (5);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.20577|0.20577	0.0495|0.0495	N|N	0.16201|0.16201	0.385|0.385	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.998;1.0|.	D;D;D|.	0.97110|.	1.0;0.984;0.998|.	T|T	0.04140|0.04140	-1.0974|-1.0974	10|8	0.72032|0.52906	D|T	0.01|0.07	.|.	19.5154|19.5154	0.95162|0.95162	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	716;880;908|.	Q9NQ36-3;Q9NQ36-2;Q9NQ36|.	.;.;SCUB2_HUMAN|.	E|R	937;908;716;880|91	ENSP00000390481:G937E;ENSP00000310658:G908E;ENSP00000415187:G716E;ENSP00000429969:G880E|ENSP00000432828:G91R	ENSP00000310658:G908E|ENSP00000432828:G91R	G|G	-|-	2|1	0|0	SCUBE2|SCUBE2	9003869|9003869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.773000|4.773000	0.62331|0.62331	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GGG|GGA	.		0.502	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		T	9047293	C	T	9047293	3	4	24	1	0	0	0	0	1	0	0	0	13990	623	22	3	288	3	SCUBE2	11	9047293	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1377560	9047293	125959223	525	3672											
CTR9	9646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	10785962	10785962	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:10785962T>G	ENST00000361367.2	+	11	1818	c.1392T>G	c.(1390-1392)ctT>ctG	p.L464L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	464					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)		ATTTTAGACTTGGAAACCTAG	0.398																																					p.L464L		.											.	.	.	0			c.T1392G						.						92	94	93					11																	10785962		2201	4294	6495	SO:0001819	synonymous_variant	9646	exon11			TAGACTTGGAAAC	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.1392T>G	11.37:g.10785962T>G		62	0		42	17	NM_014633	D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	CCDS7805.1																																																																																			.		0.398	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		G	10785962	T	G	10785962	2	3	24	1	0	0	0	0	0	0	0	1	4033	1799	63	4		4	CTR9	11	10785962	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1738669	10785962	124220554	526	3673											
CTR9	9646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	10789426	10789426	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:10789426A>C	ENST00000361367.2	+	14	2186	c.1760A>C	c.(1759-1761)aAg>aCg	p.K587T		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	587					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)		GGGCAGAAGAAGTTTGAGAGG	0.443																																					p.K587T		.											.	.	.	0			c.A1760C						.						240	238	238					11																	10789426		2201	4294	6495	SO:0001583	missense	9646	exon14			AGAAGAAGTTTGA	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.1760A>C	11.37:g.10789426A>C	ENSP00000355013:p.Lys587Thr	89	0		57	25	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831970	0.71258	.	.	ENSG00000198730	ENST00000361367	T	0.58652	0.32	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	L	0.53249	1.67	0.80722	D	1	P	0.45569	0.861	P	0.45639	0.488	T	0.55068	-0.8198	10	0.22109	T	0.4	-25.3637	15.6945	0.77484	1.0:0.0:0.0:0.0	.	587	Q6PD62	CTR9_HUMAN	T	587	ENSP00000355013:K587T	ENSP00000355013:K587T	K	+	2	0	CTR9	10746002	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	9.238000	0.95380	2.116000	0.64780	0.383000	0.25322	AAG	.		0.443	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		C	10789426	A	C	10789426	3	2	24	1	0	0	0	0	1	0	0	0	4033	72	3	4	1814	4	CTR9	11	10789426	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3464	10789426	124217090	527	3674											
CALCB	797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	15096669	15096669	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:15096669T>G	ENST00000533448.1	+	3	260	c.149T>G	c.(148-150)cTg>cGg	p.L50R	CALCB_ENST00000523376.1_Missense_Mutation_p.L61R|CALCB_ENST00000324229.6_Missense_Mutation_p.L50R			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	50					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CGCCTCCTGCTGGCTGCACTG	0.627											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L50R		.											.	.	.	0			c.T149G						.						58	61	60					11																	15096669		2200	4294	6494	SO:0001583	missense	797	exon3			TCCTGCTGGCTGC		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.149T>G	11.37:g.15096669T>G	ENSP00000433490:p.Leu50Arg	48	0	700	31	13	NM_000728	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359586	0.82353	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.26223	1.75;1.75;1.75	5.4	4.26	0.50523	.	0.180007	0.27327	N	0.019878	T	0.54319	0.1851	M	0.90483	3.12	0.38099	D	0.937193	D	0.60160	0.987	D	0.63597	0.916	T	0.66400	-0.5933	10	0.87932	D	0	-22.8629	11.9707	0.53062	0.13:0.0:0.0:0.87	.	50	P10092	CALCB_HUMAN	R	61;50;50	ENSP00000428882:L61R;ENSP00000346017:L50R;ENSP00000433490:L50R	ENSP00000346017:L50R	L	+	2	0	CALCB	15053245	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.188000	0.77739	0.969000	0.38237	0.454000	0.30748	CTG	.		0.627	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		G	15096669	T	G	15096669	3	3	24	1	0	0	0	0	1	0	0	0	2583	1580	55	4	155	4	CALCB	11	15096669	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4307243	15096669	119909847	528	3675											
FSHB	2488	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	30255127	30255127	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:30255127A>G	ENST00000417547.1	+	3	209	c.170A>G	c.(169-171)tAt>tGt	p.Y57C	FSHB_ENST00000254122.3_Missense_Mutation_p.Y57C|FSHB_ENST00000533718.1_Missense_Mutation_p.Y57C	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	57					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						GATCTGGTGTATAAGGACCCA	0.438																																					p.Y57C		.											.	.	.	0			c.A170G						.						76	73	74					11																	30255127		2202	4299	6501	SO:0001583	missense	2488	exon3			TGGTGTATAAGGA		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.170A>G	11.37:g.30255127A>G	ENSP00000416606:p.Tyr57Cys	70	0		48	12	NM_000510	A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720518	0.30503	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.83506	-1.73;-1.73;-1.73	6.17	4.99	0.66335	Cystine knot (1);	0.218618	0.39687	N	0.001300	D	0.83741	0.5320	M	0.88105	2.93	0.26108	N	0.980724	B	0.06786	0.001	B	0.14578	0.011	T	0.76547	-0.2919	10	0.54805	T	0.06	.	8.4963	0.33130	0.7356:0.1352:0.0:0.1293	.	57	P01225	FSHB_HUMAN	C	57	ENSP00000254122:Y57C;ENSP00000416606:Y57C;ENSP00000433424:Y57C	ENSP00000254122:Y57C	Y	+	2	0	FSHB	30211703	0.424000	0.25490	0.998000	0.56505	0.978000	0.69477	1.884000	0.39668	2.371000	0.80710	0.533000	0.62120	TAT	.		0.438	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		G	30255127	A	G	30255127	3	3	24	1	0	0	0	0	1	0	0	0	6096	449	16	4	176	4	FSHB	11	30255127	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	15158458	30255127	104751389	529	3676											
TCP11L1	55346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	33094146	33094146	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:33094146G>A	ENST00000334274.4	+	10	1854	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	TCP11L1_ENST00000531632.2_Missense_Mutation_p.R485H|TCP11L1_ENST00000432887.1_Missense_Mutation_p.R485H|TCP11L1_ENST00000324357.9_Missense_Mutation_p.R264H	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	485						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						AAATTTGCTCGCCTGGTCAAC	0.512																																					p.R485H		.											.	.	.	0			c.G1454A						.						189	170	177					11																	33094146		2202	4298	6500	SO:0001583	missense	55346	exon10			TTGCTCGCCTGGT	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.1454G>A	11.37:g.33094146G>A	ENSP00000335595:p.Arg485His	67	0		45	10	NM_001145541	D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180621	0.94846	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51156	-0.8741	10	0.59425	D	0.04	-10.7262	19.1776	0.93609	0.0:0.0:1.0:0.0	.	485	Q9NUJ3	T11L1_HUMAN	H	485;485;485;264	ENSP00000335595:R485H;ENSP00000433067:R485H;ENSP00000395070:R485H;ENSP00000316279:R264H	ENSP00000316279:R264H	R	+	2	0	TCP11L1	33050722	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.387000	0.97232	2.530000	0.85305	0.313000	0.20887	CGC	.		0.512	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		A	33094146	G	A	33094146	3	1	24	1	0	0	0	0	1	0	0	0	15761	1087	38	1	1488	1	TCP11L1	11	33094146	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2839019	33094146	101912370	530	3677											
CAPRIN1	4076	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	34074072	34074072	+	Silent	SNP	C	C	T	rs370335951	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:34074072C>T	ENST00000341394.4	+	2	294	c.105C>T	c.(103-105)gcC>gcT	p.A35A	CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000530820.1_Silent_p.A35A|CAPRIN1_ENST00000532820.1_Silent_p.A35A|CAPRIN1_ENST00000389645.3_Silent_p.A35A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	35					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ccggggccgccgcgccggcTT	0.716																																					p.A35A		.											.	.	.	0			c.C105T						.						6	9	8					11																	34074072		2034	3996	6030	SO:0001819	synonymous_variant	4076	exon2			GGCCGCCGCGCCG	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.105C>T	11.37:g.34074072C>T		42	0		32	15	NM_203364	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	ENST00000341394.4	37	CCDS31453.1																																																																																			.		0.716	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		T	34074072	C	T	34074072	2	4	24	1	0	0	0	0	0	0	0	1	2642	639	23	1		1	CAPRIN1	11	34074072	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	979926	34074072	100932444	531	3678											
DDB2	1643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47256385	47256385	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:47256385A>G	ENST00000256996.4	+	6	975	c.780A>G	c.(778-780)acA>acG	p.T260T	DDB2_ENST00000378603.3_Silent_p.T196T|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	260					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						TCCTGGCCACAGCCTCCGTAG	0.532			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.T260T		.	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	.	.	0			c.A780G						.						52	50	51					11																	47256385		2201	4298	6499	SO:0001819	synonymous_variant	1643	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GGCCACAGCCTCC		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.780A>G	11.37:g.47256385A>G		35	0		33	16	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	ENST00000256996.4	37	CCDS7927.1																																																																																			.		0.532	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		G	47256385	A	G	47256385	2	3	24	1	0	0	0	0	0	0	0	1	4333	175	7	4		4	DDB2	11	47256385	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	13182313	47256385	87750131	532	3679											
DDB2	1643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47256429	47256429	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:47256429T>G	ENST00000256996.4	+	6	1019	c.824T>G	c.(823-825)gTt>gGt	p.V275G	DDB2_ENST00000378603.3_Missense_Mutation_p.V211G|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	275					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						CTGCGCCAGGTTAGAGGGAAA	0.547			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.V275G		.	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	.	.	0			c.T824G						.						48	47	47					11																	47256429		2201	4298	6499	SO:0001583	missense	1643	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GCCAGGTTAGAGG		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.824T>G	11.37:g.47256429T>G	ENSP00000256996:p.Val275Gly	35	0		30	11	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317251	0.81469	.	.	ENSG00000134574	ENST00000256996;ENST00000378603	T;T	0.66280	-0.15;-0.2	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.214317	0.47455	D	0.000228	T	0.42765	0.1217	N	0.02345	-0.59	0.80722	D	1	D;D	0.60575	0.988;0.962	P;B	0.45037	0.467;0.205	T	0.59263	-0.7487	10	0.62326	D	0.03	-20.5596	15.7325	0.77817	0.0:0.0:0.0:1.0	.	211;275	Q92466-4;Q92466	.;DDB2_HUMAN	G	275;211	ENSP00000256996:V275G;ENSP00000367866:V211G	ENSP00000256996:V275G	V	+	2	0	DDB2	47213005	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.703000	0.84585	2.116000	0.64780	0.460000	0.39030	GTT	.		0.547	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		G	47256429	T	G	47256429	3	3	24	1	0	0	0	0	1	0	0	0	4333	1725	60	4	846	4	DDB2	11	47256429	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	44	47256429	87750087	533	3680											
RAPSN	5913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47464331	47464331	+	Silent	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:47464331C>G	ENST00000298854.2	-	3	780	c.567G>C	c.(565-567)gcG>gcC	p.A189A	RAPSN_ENST00000529341.1_Silent_p.A189A|RAPSN_ENST00000528356.1_5'Flank|RAPSN_ENST00000352508.3_Silent_p.A189A|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000524487.1_Intron	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	189			A -> V (in FADS). {ECO:0000269|PubMed:18252226}.		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						CAAGCTCTGCCGCCTTGCAGG	0.607																																					p.A189A		.											.	.	.	0			c.G567C						.						87	81	83					11																	47464331		2201	4298	6499	SO:0001819	synonymous_variant	5913	exon3			CTCTGCCGCCTTG		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.567G>C	11.37:g.47464331C>G		47	0		25	12	NM_032645	Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	CCDS7936.1																																																																																			.		0.607	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			G	47464331	C	G	47464331	2	3	24	1	0	0	0	0	0	0	0	1	13096	639	23	5		5	RAPSN	11	47464331	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	207902	47464331	87542185	534	3681											
PTPMT1	114971	hgsc.bcm.edu	37	11	47591273	47591273	+	Nonsense_Mutation	SNP	G	G	T	rs200800213		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:47591273G>T	ENST00000326674.9	+	3	299	c.277G>T	c.(277-279)Gag>Tag	p.E93*	PTPMT1_ENST00000426530.2_Intron|PTPMT1_ENST00000534775.1_Missense_Mutation_p.R129L|PTPMT1_ENST00000326656.8_Intron|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	93					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E93K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						ACTAGGAGTCGAGCAGCTGCG	0.522																																					p.E93X		.											PTPMT1,NS,carcinoma,0,1	PTPMT1	0	1	Substitution - Missense(1)	breast(1)	c.G277T						.						67	69	69					11																	47591273		1973	4169	6142	SO:0001587	stop_gained	114971	exon3			GGAGTCGAGCAGC	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.277G>T	11.37:g.47591273G>T	ENSP00000325958:p.Glu93*	48	0		33	3	NM_175732	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Nonsense_Mutation	SNP	ENST00000326674.9	37	CCDS41643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433444|4.433444	0.83776|0.83776	.|.	.|.	ENSG00000110536|ENSG00000110536	ENST00000326674|ENST00000534775	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	.|T	.|0.61961	.|0.2389	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|P	.|0.45768	.|0.866	.|P	.|0.45971	.|0.499	.|T	.|0.73126	.|-0.4081	.|6	0.29301|0.87932	T|D	0.29|0	-11.7343|-11.7343	16.9249|16.9249	0.86173|0.86173	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|129	.|E9PQM0	.|.	X|L	93|129	.|.	ENSP00000325958:E93X|ENSP00000436160:R129L	E|R	+|+	1|2	0|0	PTPMT1|PTPMT1	47547849|47547849	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.949000|0.949000	0.60115|0.60115	7.320000|7.320000	0.79064|0.79064	2.443000|2.443000	0.82685|0.82685	0.462000|0.462000	0.41574|0.41574	GAG|CGA	.		0.522	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		T	47591273	G	T	47591273	4	4	24	1	0	0	0	0	0	1	0	0	12821	1059	37	2	392	2	PTPMT1	11	47591273	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	126942	47591273	87415243	535	3682											
KBTBD4	55709	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47594521	47594521	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:47594521A>C	ENST00000526005.1	-	4	1671	c.1518T>G	c.(1516-1518)atT>atG	p.I506M	KBTBD4_ENST00000533290.1_Missense_Mutation_p.I531M|KBTBD4_ENST00000395288.2_Missense_Mutation_p.I506M|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Missense_Mutation_p.I522M			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	506										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GCAGCACCTTAATACCTCTTG	0.507																																					p.I522M													.	KBTBD4	55	0			c.T1566G						.						95	67	76					11																	47594521		2201	4298	6499	SO:0001583	missense	55709	exon4			CACCTTAATACCT	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1518T>G	11.37:g.47594521A>C	ENSP00000433340:p.Ile506Met	51	0		28	6	NM_018095	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.729824	0.30684	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.74002	-0.71;-0.8;-0.71;-0.78	6.04	-1.99	0.07457	.	0.093369	0.64402	D	0.000001	T	0.59985	0.2234	N	0.19112	0.55	0.47584	D	0.999469	B;B;B	0.31859	0.343;0.077;0.232	B;B;B	0.36289	0.221;0.023;0.11	T	0.55970	-0.8056	10	0.59425	D	0.04	-6.3232	14.1734	0.65525	0.227:0.0:0.773:0.0	.	522;506;531	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	M	506;531;506;522	ENSP00000433340:I506M;ENSP00000436713:I531M;ENSP00000378703:I506M;ENSP00000415106:I522M	ENSP00000378703:I506M	I	-	3	3	KBTBD4	47551097	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	2.264000	0.43302	-0.273000	0.09246	0.459000	0.35465	ATT	.		0.507	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		C	47594521	A	C	47594521	3	2	24	1	0	0	0	0	1	0	0	0	8022	358	13	4	42	4	KBTBD4	11	47594521	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3248	47594521	87411995	536	3683											
C11orf31	643376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	57509283	57509283	+	IGR	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:57509283C>G	ENST00000436147.3	-	0	2947				RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_Missense_Mutation_p.T42S|C11orf31_ENST00000534355.1_Missense_Mutation_p.T42S			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18											endometrium(3)|kidney(1)	4						CTCCCTAGCACTAGCTGACGC	0.677																																					.		.											.	.	.	0			.						.						10	13	12					11																	57509283		1807	4044	5851	SO:0001628	intergenic_variant	280636	p.T42S			CTAGCACTAGCTG		CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"BTB/POZ domain containing"	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203		11.37:g.57509283C>G		79	0		45	6	.		Missense_Mutation	SNP	ENST00000436147.3	37	CCDS44603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.276302|1.276302	0.23307|0.23307	.|.	.|.	ENSG00000211450|ENSG00000211450	ENST00000528798|ENST00000534355;ENST00000388857	.|T;T	.|0.46063	.|0.88;0.88	5.43|5.43	2.47|2.47	0.30058|0.30058	.|Thioredoxin-like fold (2);	.|.	.|.	.|.	.|.	T|T	0.29556|0.29556	0.0737|0.0737	L|L	0.49126|0.49126	1.545|1.545	0.22034|0.22034	N|N	0.999408|0.999408	.|B	.|0.26975	.|0.165	.|B	.|0.28385	.|0.089	T|T	0.26360|0.26360	-1.0105|-1.0105	5|9	.|0.09084	.|T	.|0.74	-9.2637|-9.2637	3.4709|3.4709	0.07567|0.07567	0.2486:0.5228:0.1425:0.086|0.2486:0.5228:0.1425:0.086	.|.	.|42	.|Q8IZQ5	.|SELH_HUMAN	Q|S	13|42	.|ENSP00000434511:T42S;ENSP00000373509:T42S	.|ENSP00000373509:T42S	H|T	+|+	3|2	2|0	C11orf31|C11orf31	57265859|57265859	0.707000|0.707000	0.27866|0.27866	0.976000|0.976000	0.42696|0.42696	0.909000|0.909000	0.53808|0.53808	0.882000|0.882000	0.28186|0.28186	1.530000|1.530000	0.49136|0.49136	0.655000|0.655000	0.94253|0.94253	CAC|ACT	.		0.677	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393718.2	NM_001145101		G	57509283	C	G	57509283	1	3	24	0	1	0	0	0	0	0	0	0	1642	565	20	5		5	C11orf31	11	57509283	IGR	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	9914762	57509283	77497233	537	3684											
CTNND1	1500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	57569260	57569260	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:57569260C>T	ENST00000399050.4	+	7	1548	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	CTNND1_ENST00000532787.1_Missense_Mutation_p.P237S|CTNND1_ENST00000532649.1_Missense_Mutation_p.P284S|CTNND1_ENST00000532844.1_Missense_Mutation_p.P284S|CTNND1_ENST00000399039.4_Missense_Mutation_p.P338S|CTNND1_ENST00000527467.1_Missense_Mutation_p.P15S|CTNND1_ENST00000532463.1_Missense_Mutation_p.P237S|CTNND1_ENST00000534579.1_Missense_Mutation_p.P284S|CTNND1_ENST00000530094.1_Missense_Mutation_p.P237S|CTNND1_ENST00000529919.1_Missense_Mutation_p.P338S|CTNND1_ENST00000531014.1_Missense_Mutation_p.P15S|CTNND1_ENST00000361391.6_Missense_Mutation_p.P338S|CTNND1_ENST00000528621.1_Missense_Mutation_p.P284S|CTNND1_ENST00000526357.1_Missense_Mutation_p.P284S|CTNND1_ENST00000524630.1_Missense_Mutation_p.P338S|CTNND1_ENST00000428599.2_Missense_Mutation_p.P338S|CTNND1_ENST00000526938.1_Missense_Mutation_p.P338S|CTNND1_ENST00000529873.1_Missense_Mutation_p.P284S|CTNND1_ENST00000532245.1_Missense_Mutation_p.P237S|CTNND1_ENST00000529986.1_Missense_Mutation_p.P237S|CTNND1_ENST00000426142.2_Missense_Mutation_p.P237S|CTNND1_ENST00000360682.6_Missense_Mutation_p.P338S|CTNND1_ENST00000361332.4_Missense_Mutation_p.P338S|CTNND1_ENST00000530748.1_Missense_Mutation_p.P284S|CTNND1_ENST00000533667.1_Missense_Mutation_p.P15S|CTNND1_ENST00000415361.2_Missense_Mutation_p.P237S|CTNND1_ENST00000526772.1_Missense_Mutation_p.P15S|CTNND1_ENST00000358694.6_Missense_Mutation_p.P338S|CTNND1_ENST00000525902.1_Missense_Mutation_p.P15S|CTNND1_ENST00000528232.1_Missense_Mutation_p.P237S|CTNND1_ENST00000529526.1_Missense_Mutation_p.P284S|CTNND1_ENST00000361796.4_Missense_Mutation_p.P338S	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	338					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)				CTACTGGGCTCCTTTGGCCCA	0.502																																					p.P338S		.											.	.	.	0			c.C1012T						.						78	75	76					11																	57569260		1932	4150	6082	SO:0001583	missense	1500	exon7			TGGGCTCCTTTGG	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.1012C>T	11.37:g.57569260C>T	ENSP00000382004:p.Pro338Ser	29	0		20	9	NM_001085461	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481579	0.84747	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-0.52;-0.52;-0.52;-1.26;-0.9;-0.52;-0.52;-0.42;-0.55;-0.88;-0.54;-0.42;-0.42;-0.52;-0.75;-1.07;-0.52;-0.52;-0.53;-0.52;-0.68;-0.43;-0.68;-0.63;-0.87;-0.63;-0.55;-0.54;-0.52;-0.52;-0.42;-0.52;-0.88;1.95	4.74	4.74	0.60224	Armadillo-like helical (1);	0.224208	0.46758	D	0.000262	D	0.84638	0.5516	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.985;1.0;0.999	D;D;P;D;D;D;P;D;P	0.71870	0.955;0.955;0.903;0.975;0.955;0.955;0.861;0.955;0.903	D	0.85133	0.0976	10	0.51188	T	0.08	-1.8524	15.6813	0.77371	0.0:1.0:0.0:0.0	.	338;338;338;237;284;284;338;338;338	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	S	338;338;338;15;338;338;284;237;338;338;338;237;237;338;237;15;284;284;284;338;15;237;15;15;284;15;284;284;237;237;237;284;338;260	ENSP00000436543:P338S;ENSP00000434808:P338S;ENSP00000381996:P338S;ENSP00000435242:P15S;ENSP00000353902:P338S;ENSP00000354907:P338S;ENSP00000436323:P284S;ENSP00000409930:P237S;ENSP00000382004:P338S;ENSP00000354785:P338S;ENSP00000354823:P338S;ENSP00000432075:P237S;ENSP00000437156:P237S;ENSP00000351527:P338S;ENSP00000434949:P237S;ENSP00000437051:P15S;ENSP00000435379:P284S;ENSP00000432243:P284S;ENSP00000436744:P284S;ENSP00000413586:P338S;ENSP00000434900:P15S;ENSP00000435266:P237S;ENSP00000432623:P15S;ENSP00000433158:P15S;ENSP00000435494:P284S;ENSP00000434672:P15S;ENSP00000433276:P284S;ENSP00000433334:P284S;ENSP00000437327:P237S;ENSP00000403518:P237S;ENSP00000434017:P237S;ENSP00000435789:P284S;ENSP00000432041:P338S;ENSP00000434202:P260S	ENSP00000351527:P338S	P	+	1	0	CTNND1	57325836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.169000	0.64984	2.441000	0.82636	0.557000	0.71058	CCT	.		0.502	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		T	57569260	C	T	57569260	3	4	24	1	0	0	0	0	1	0	0	0	4028	855	30	3	1030	3	CTNND1	11	57569260	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	59977	57569260	77437256	538	3685											
STX3	6809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	59554567	59554567	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:59554567A>T	ENST00000337979.4	+	3	719	c.172A>T	c.(172-174)Aaa>Taa	p.K58*	STX3_ENST00000535361.1_Nonsense_Mutation_p.K58*|STX3_ENST00000300150.7_Nonsense_Mutation_p.K27*|STX3_ENST00000437946.2_Intron|STX3_ENST00000529177.1_Nonsense_Mutation_p.K58*	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	58					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GGAGGCTAAGAAACTCTACAG	0.418																																					p.K58X		.											.	.	.	0			c.A172T						.						161	143	149					11																	59554567		2201	4295	6496	SO:0001587	stop_gained	6809	exon3			GCTAAGAAACTCT	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.172A>T	11.37:g.59554567A>T	ENSP00000338562:p.Lys58*	64	0		29	6	NM_004177	B4DME0|O43750|O43751|Q15360	Nonsense_Mutation	SNP	ENST00000337979.4	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	A	42	9.505042	0.99190	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000529177;ENST00000528805	.	.	.	5.01	5.01	0.66863	.	0.092777	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1909	13.5719	0.61851	1.0:0.0:0.0:0.0	.	.	.	.	X	27;58;58;58;10	.	ENSP00000300150:K27X	K	+	1	0	STX3	59311143	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	6.461000	0.73522	1.875000	0.54330	0.528000	0.53228	AAA	.		0.418	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		T	59554567	A	T	59554567	4	4	24	1	0	0	0	0	0	1	0	0	15393	247	9	5	182	5	STX3	11	59554567	Nonsense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1985307	59554567	75451949	539	3686											
FADS1	3992	broad.mit.edu	37	11	61584238	61584238	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:61584238C>A	ENST00000350997.7	-	1	396	c.164G>T	c.(163-165)aGg>aTg	p.R55M	FADS1_ENST00000541683.1_5'Flank|FADS2_ENST00000257261.6_Intron|FADS1_ENST00000542506.1_5'Flank|FADS2_ENST00000574708.1_Intron|MIR1908_ENST00000410394.1_RNA|FADS2_ENST00000522639.1_Intron|FADS1_ENST00000433932.1_5'Flank|FADS2_ENST00000517839.1_Intron|FADS2_ENST00000522056.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	0	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATAGCTGGCCTGGCGACGCC	0.761																																					p.R55M													.	FADS1	19	0			c.G164T						.						2	3	3					11																	61584238		1475	3343	4818	SO:0001583	missense	3992	exon1			GCTGGCCTGGCGA		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.164G>T	11.37:g.61584238C>A	ENSP00000322229:p.Arg55Met	22	0		14	5	NM_013402	A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	37	CCDS8011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.26|17.26	3.345407|3.345407	0.61073|0.61073	.|.	.|.	ENSG00000149485|ENSG00000149485	ENST00000491310|ENST00000350997	.|T	.|0.58797	.|0.31	3.3|3.3	-0.845|-0.845	0.10737|0.10737	.|.	.|.	.|.	.|.	.|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.99999|0.99999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30707|0.30707	-0.9969|-0.9969	5|7	.|0.48119	.|T	.|0.1	.|.	8.0557|8.0557	0.30604|0.30604	0.0:0.6348:0.0:0.3652|0.0:0.6348:0.0:0.3652	.|.	.|.	.|.	.|.	C|M	5|55	.|ENSP00000322229:R55M	.|ENSP00000322229:R55M	G|R	-|-	1|2	0|0	FADS1|FADS1	61340814|61340814	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	-0.243000|-0.243000	0.08915|0.08915	-0.159000|-0.159000	0.11021|0.11021	-0.254000|-0.254000	0.11334|0.11334	GGC|AGG	.		0.761	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		A	61584238	C	A	61584238	3	1	24	1	0	0	0	0	1	0	0	0	5384	681	24	3	1389	3	FADS1	11	61584238	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2029671	61584238	73422278	540	3687											
AHNAK	79026	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	62299800	62299800	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:62299800T>A	ENST00000378024.4	-	5	2363	c.2089A>T	c.(2089-2091)Atc>Ttc	p.I697F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	697					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)				GGCATGGAGATCTTTGGTGTC	0.478																																					p.I697F		.											.	.	.	0			c.A2089T						.						204	189	194					11																	62299800		2202	4299	6501	SO:0001583	missense	79026	exon5			TGGAGATCTTTGG	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.2089A>T	11.37:g.62299800T>A	ENSP00000367263:p.Ile697Phe	48	0		28	15	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663885	0.29515	.	.	ENSG00000124942	ENST00000378024	T	0.01258	5.09	4.75	1.13	0.20643	.	.	.	.	.	T	0.02571	0.0078	M	0.68952	2.095	0.31294	N	0.689092	P	0.36789	0.57	B	0.41571	0.36	T	0.17776	-1.0358	9	0.52906	T	0.07	-4.4465	5.7706	0.18251	0.0:0.1529:0.142:0.7051	.	697	Q09666	AHNK_HUMAN	F	697	ENSP00000367263:I697F	ENSP00000367263:I697F	I	-	1	0	AHNAK	62056376	0.232000	0.23762	0.988000	0.46212	0.662000	0.39071	0.501000	0.22578	0.030000	0.15379	-0.475000	0.04921	ATC	.		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62299800	T	A	62299800	3	1	24	1	0	0	0	0	1	0	0	0	414	1435	50	5	15703	5	AHNAK	11	62299800	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	715562	62299800	72706716	541	3688											
BSCL2	26580	hgsc.bcm.edu	37	11	62460156	62460156	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:62460156G>A	ENST00000403550.1	-	5	975	c.552C>T	c.(550-552)taC>taT	p.Y184Y	LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000433053.1_Silent_p.Y248Y|BSCL2_ENST00000407022.3_Silent_p.Y184Y|BSCL2_ENST00000537604.1_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Silent_p.Y184Y|BSCL2_ENST00000405837.1_Silent_p.Y248Y|BSCL2_ENST00000360796.5_Silent_p.Y248Y|BSCL2_ENST00000278893.7_Silent_p.Y184Y			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	184					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.Y184*(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TATAGTCTGCGTAGAGTTCCA	0.537																																					p.Y248Y		.											BSCL2,NS,carcinoma,0,1	BSCL2	0	1	Substitution - Nonsense(1)	endometrium(1)	c.C744T						.						110	97	101					11																	62460156		2202	4299	6501	SO:0001819	synonymous_variant	26580	exon5			GTCTGCGTAGAGT		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.552C>T	11.37:g.62460156G>A		36	0		20	2	NM_001122955	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	CCDS8031.1																																																																																			.		0.537	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		A	62460156	G	A	62460156	2	1	24	1	0	0	0	0	0	0	0	1	1531	1140	40	1		1	BSCL2	11	62460156	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	160356	62460156	72546360	542	3689											
SLC3A2	6520	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62649510	62649510	+	Missense_Mutation	SNP	C	C	A	rs138578664		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:62649510C>A	ENST00000377890.2	+	5	1041	c.873C>A	c.(871-873)gaC>gaA	p.D291E	SLC3A2_ENST00000377892.1_Missense_Mutation_p.D322E|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D190E|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D260E|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D292E|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D229E|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	291					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						AAGATTTTGACAGTCTCTTGC	0.473																																					p.D292E		.											.	.	.	0			c.C876A						.						102	97	98					11																	62649510		2201	4298	6499	SO:0001583	missense	6520	exon5			TTTTGACAGTCTC		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.873C>A	11.37:g.62649510C>A	ENSP00000367122:p.Asp291Glu	60	0		44	16	NM_001012662	Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805568	0.16467	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77;-4.77	5.53	-5.15	0.02866	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.425730	0.03714	N	0.250819	D	0.92087	0.7492	N	0.12527	0.23	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;0.001;0.0;0.001	D	0.88735	0.3239	10	0.17369	T	0.5	-2.8851	2.2957	0.04150	0.4408:0.2329:0.1933:0.133	.	229;260;291;190;322	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	E	322;292;291;292;229;260;190;172	ENSP00000367124:D322E;ENSP00000367123:D292E;ENSP00000367122:D291E;ENSP00000367121:D229E;ENSP00000444236:D260E;ENSP00000340815:D190E	ENSP00000340815:D190E	D	+	3	2	SLC3A2	62406086	0.000000	0.05858	0.002000	0.10522	0.904000	0.53231	-1.897000	0.01603	-0.958000	0.03622	-0.169000	0.13324	GAC	.		0.473	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		A	62649510	C	A	62649510	3	1	24	1	0	0	0	0	1	0	0	0	14672	477	17	3	991	3	SLC3A2	11	62649510	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	189354	62649510	72357006	543	3690											
FERMT3	83706	ucsc.edu;bcgsc.ca	37	11	63986820	63986820	+	Missense_Mutation	SNP	C	C	T	rs560195082	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:63986820C>T	ENST00000279227.5	+	7	979	c.884C>T	c.(883-885)gCc>gTc	p.A295V	FERMT3_ENST00000345728.5_Missense_Mutation_p.A295V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	295	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						ATGGTGTTTGCCGCCCTGCAG	0.667													C|||	3	0.000599042	0	0	5008	,	,		18564	0		0	False		,,,				2504	0.0031				p.A295V													.	FERMT3	51	0			c.C884T						.						32	30	31					11																	63986820		2199	4295	6494	SO:0001583	missense	83706	exon7			TGTTTGCCGCCCT	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.884C>T	11.37:g.63986820C>T	ENSP00000279227:p.Ala295Val	28	0		32	4	NM_031471	Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317941	0.60524	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	D;D	0.88431	-2.38;-2.38	5.18	5.18	0.71444	Band 4.1 domain (1);FERM central domain (2);	0.066212	0.64402	D	0.000018	D	0.92919	0.7747	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.979;0.996	P;D	0.65233	0.743;0.933	D	0.92275	0.5828	9	.	.	.	-12.6066	17.8499	0.88742	0.0:1.0:0.0:0.0	.	295;295	Q86UX7-2;Q86UX7	.;URP2_HUMAN	V	295	ENSP00000339950:A295V;ENSP00000279227:A295V	.	A	+	2	0	FERMT3	63743396	1.000000	0.71417	0.760000	0.31359	0.027000	0.11550	5.956000	0.70315	2.595000	0.87683	0.655000	0.94253	GCC	.		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		T	63986820	C	T	63986820	3	4	24	1	0	0	0	0	1	0	0	0	5841	739	26	3	906	3	FERMT3	11	63986820	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1337310	63986820	71019696	544	3691											
NUDT22	84304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	63994325	63994325	+	Silent	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:63994325C>G	ENST00000279206.3	+	2	357	c.201C>G	c.(199-201)acC>acG	p.T67T	TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000317459.6_5'Flank|TRPT1_ENST00000394547.3_5'Flank|TRPT1_ENST00000394546.2_5'Flank|TRPT1_ENST00000546089.1_5'Flank|NUDT22_ENST00000441250.2_Silent_p.T67T|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000541278.1_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	67							hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						ACTCAGCCACCCTGGCGCCTA	0.657																																					p.T67T		.											.	.	.	0			c.C201G						.						52	55	54					11																	63994325		2201	4297	6498	SO:0001819	synonymous_variant	84304	exon2			AGCCACCCTGGCG	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.201C>G	11.37:g.63994325C>G		69	0		58	23	NM_001128613	C9JY06|Q71RD5	Silent	SNP	ENST00000279206.3	37	CCDS8061.1																																																																																			.		0.657	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		G	63994325	C	G	63994325	2	3	24	1	0	0	0	0	0	0	0	1	10778	610	22	5		5	NUDT22	11	63994325	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	7505	63994325	71012191	545	3692											
PYGM	5837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64514795	64514795	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:64514795T>G	ENST00000164139.3	-	18	2611	c.2213A>C	c.(2212-2214)gAg>gCg	p.E738A	PYGM_ENST00000377432.3_Missense_Mutation_p.E650A|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	738					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						CTGCCGAAGCTCAGGAATGCG	0.557																																					p.E738A		.											.	.	.	0			c.A2213C						.						141	116	124					11																	64514795		2201	4297	6498	SO:0001583	missense	5837	exon18			CGAAGCTCAGGAA		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.2213A>C	11.37:g.64514795T>G	ENSP00000164139:p.Glu738Ala	23	0		21	13	NM_005609	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081001	0.55753	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93076	-3.16;-3.16	4.62	4.62	0.57501	.	0.000000	0.47852	D	0.000217	D	0.91202	0.7228	L	0.53729	1.69	0.80722	D	1	B;B	0.23316	0.083;0.006	B;B	0.29077	0.098;0.058	D	0.89281	0.3612	10	0.52906	T	0.07	-25.4673	12.0153	0.53311	0.0:0.0:0.0:1.0	.	650;738	A6NDY6;P11217	.;PYGM_HUMAN	A	650;738;719	ENSP00000366650:E650A;ENSP00000164139:E738A	ENSP00000164139:E738A	E	-	2	0	PYGM	64271371	1.000000	0.71417	0.972000	0.41901	0.794000	0.44872	7.805000	0.86005	1.954000	0.56735	0.379000	0.24179	GAG	.		0.557	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		G	64514795	T	G	64514795	3	3	24	1	0	0	0	0	1	0	0	0	12907	1551	54	4	327	4	PYGM	11	64514795	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	520470	64514795	70491721	546	3693											
ATG2A	23130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64679638	64679638	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:64679638G>C	ENST00000377264.3	-	8	1118	c.1006C>G	c.(1006-1008)Cag>Gag	p.Q336E	ATG2A_ENST00000421419.2_Missense_Mutation_p.Q336E	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	336					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						TGCAGCTGCTGGTTCAGGTCC	0.632																																					p.Q336E		.											.	.	.	0			c.C1006G						.						59	64	63					11																	64679638		2201	4297	6498	SO:0001583	missense	23130	exon8			GCTGCTGGTTCAG		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.1006C>G	11.37:g.64679638G>C	ENSP00000366475:p.Gln336Glu	56	0		29	15	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086361|3.086361	0.55861|0.55861	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264;ENST00000227459	.|T;T	.|0.06371	.|3.31;3.31	4.07|4.07	3.14|3.14	0.36123|0.36123	.|.	.|0.143795	.|0.46145	.|N	.|0.000311	T|T	0.07548|0.07548	0.0190|0.0190	L|L	0.47716|0.47716	1.5|1.5	0.33924|0.33924	D|D	0.64117|0.64117	.|P	.|0.38504	.|0.634	.|B	.|0.38880	.|0.284	T|T	0.24941|0.24941	-1.0146|-1.0146	5|10	.|0.36615	.|T	.|0.2	.|.	11.7994|11.7994	0.52118|0.52118	0.0:0.179:0.821:0.0|0.0:0.179:0.821:0.0	.|.	.|336	.|Q2TAZ0	.|ATG2A_HUMAN	R|E	137|336	.|ENSP00000410522:Q336E;ENSP00000366475:Q336E	.|ENSP00000227459:Q336E	P|Q	-|-	2|1	0|0	ATG2A|ATG2A	64436214|64436214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.372000|4.372000	0.59530|0.59530	1.062000|1.062000	0.40625|0.40625	0.561000|0.561000	0.74099|0.74099	CCA|CAG	.		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		C	64679638	G	C	64679638	3	2	24	1	0	0	0	0	1	0	0	0	1094	1357	47	5	4946	5	ATG2A	11	64679638	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	164843	64679638	70326878	547	3694											
CAPN1	823	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64950279	64950279	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:64950279A>C	ENST00000527323.1	+	1	347	c.107A>C	c.(106-108)aAg>aCg	p.K36T	AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000533820.1_Missense_Mutation_p.K36T|CAPN1_ENST00000533129.1_Missense_Mutation_p.K36T|CAPN1_ENST00000524773.1_Missense_Mutation_p.K36T|CAPN1_ENST00000279247.6_Missense_Mutation_p.K36T|CAPN1_ENST00000527469.1_3'UTR			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	36					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)		AATGCCATCAAGTACCTGGGC	0.642																																					p.K36T		.											.	.	.	0			c.A107C						.						36	42	40					11																	64950279		2096	4210	6306	SO:0001583	missense	823	exon2			CCATCAAGTACCT	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.107A>C	11.37:g.64950279A>C	ENSP00000431984:p.Lys36Thr	48	0		18	10	NM_001198869	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	CCDS44644.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.600592|4.600592	0.87055|0.87055	.|.	.|.	ENSG00000014216|ENSG00000014216	ENST00000528396;ENST00000529133;ENST00000533820;ENST00000530571;ENST00000527739;ENST00000526966;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000532285;ENST00000534373;ENST00000531068;ENST00000527699;ENST00000533909;ENST00000527323|ENST00000259755	T;T;T;T;T;T;T;T;D;T;T;T;T;T|.	0.97505|.	0.93;0.93;2.3;0.93;0.93;2.3;2.3;2.3;-4.41;0.93;0.93;0.93;0.93;2.3|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.72894|0.72894	2.215|2.215	0.52099|0.52099	D|D	0.999944|0.999944	P|.	0.42993|.	0.797|.	P|.	0.44732|.	0.459|.	T|T	0.66284|0.66284	-0.5962|-0.5962	10|6	0.59425|0.22109	D|T	0.04|0.4	.|.	12.5064|12.5064	0.55984|0.55984	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	36|.	P07384|.	CAN1_HUMAN|.	T|R	36|6	ENSP00000435847:K36T;ENSP00000432512:K36T;ENSP00000435272:K36T;ENSP00000433823:K36T;ENSP00000431528:K36T;ENSP00000431686:K36T;ENSP00000434176:K36T;ENSP00000279247:K36T;ENSP00000436693:K36T;ENSP00000431793:K36T;ENSP00000435092:K36T;ENSP00000431172:K36T;ENSP00000435198:K36T;ENSP00000431984:K36T|.	ENSP00000279247:K36T|ENSP00000259755:S6R	K|S	+|+	2|1	0|0	CAPN1|CAPN1	64706855|64706855	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.576000|1.576000	0.36504|0.36504	2.061000|2.061000	0.61500|0.61500	0.533000|0.533000	0.62120|0.62120	AAG|AGT	.		0.642	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			C	64950279	A	C	64950279	3	2	24	1	0	0	0	0	1	0	0	0	2629	72	3	4	109	4	CAPN1	11	64950279	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	270641	64950279	70056237	548	3695											
SIPA1	6494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	65416935	65416935	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:65416935T>G	ENST00000394224.3	+	10	2805	c.2509T>G	c.(2509-2511)Tcg>Gcg	p.S837A	SIPA1_ENST00000527525.1_Missense_Mutation_p.S735A|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.S735A|SIPA1_ENST00000534313.1_Missense_Mutation_p.S837A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	837					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						CAGCCAGAACTCGCTGTCACC	0.627																																					p.S837A		.											.	.	.	0			c.T2509G						.						53	48	50					11																	65416935		2200	4295	6495	SO:0001583	missense	6494	exon10			CAGAACTCGCTGT	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.2509T>G	11.37:g.65416935T>G	ENSP00000377771:p.Ser837Ala	31	0		31	13	NM_006747	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252588	0.22880	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82526	-1.61;-1.62;-1.61;-1.62	4.63	-4.51	0.03483	.	1.491090	0.04737	U	0.422154	T	0.66607	0.2806	L	0.27053	0.805	0.09310	N	1	B;B	0.18741	0.03;0.003	B;B	0.21917	0.037;0.01	T	0.50233	-0.8852	10	0.15499	T	0.54	-7.0856	2.3133	0.04192	0.1457:0.4101:0.149:0.2951	.	735;837	F6RY50;Q96FS4	.;SIPA1_HUMAN	A	837;735;837;735	ENSP00000436269:S837A;ENSP00000433686:S735A;ENSP00000377771:S837A;ENSP00000377774:S735A	ENSP00000377771:S837A	S	+	1	0	SIPA1	65173511	0.000000	0.05858	0.086000	0.20670	0.702000	0.40608	-0.025000	0.12413	-0.351000	0.08249	0.379000	0.24179	TCG	.		0.627	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		G	65416935	T	G	65416935	3	3	24	1	0	0	0	0	1	0	0	0	14373	1551	54	4	2543	4	SIPA1	11	65416935	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	466656	65416935	69589581	549	3696											
SF3B2	10992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	65820161	65820161	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:65820161G>A	ENST00000322535.6	+	2	200	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	SF3B2_ENST00000528302.1_Missense_Mutation_p.V51M|snoU13_ENST00000459530.1_RNA	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	51	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CGAGGAGCTGGTGGAGCGGCT	0.662																																					p.V51M		.											.	.	.	0			c.G151A						.						43	48	46					11																	65820161		2201	4296	6497	SO:0001583	missense	10992	exon2			GAGCTGGTGGAGC	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.151G>A	11.37:g.65820161G>A	ENSP00000318861:p.Val51Met	49	0		30	11	NM_006842	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.836835|4.836835	0.91117|0.91117	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000355456;ENST00000530322|ENST00000533421	.|.	.|.	.|.	5.39|5.39	4.44|4.44	0.53790|0.53790	DNA-binding SAP (4);|.	0.239442|.	0.40640|.	N|.	0.001042|.	T|.	0.30978|.	0.0782|.	N|N	0.08118|0.08118	0|0	0.35466|0.35466	D|D	0.796973|0.796973	P;D|.	0.55385|.	0.57;0.971|.	P;P|.	0.55303|.	0.486;0.773|.	T|.	0.30880|.	-0.9963|.	9|.	0.87932|.	D|.	0|.	-31.4995|-31.4995	11.4642|11.4642	0.50227|0.50227	0.0:0.0:0.8216:0.1784|0.0:0.0:0.8216:0.1784	.|.	51;51|.	Q13435;E9PJ04|.	SF3B2_HUMAN;.|.	M|X	51;51;51;51;53;46|1	.|.	ENSP00000318861:V51M|.	V|W	+|+	1|3	0|0	SF3B2|SF3B2	65576737|65576737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.440000|3.440000	0.52886|0.52886	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GTG|TGG	.		0.662	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			A	65820161	G	A	65820161	3	1	24	1	0	0	0	0	1	0	0	0	14196	1261	44	3	157	3	SF3B2	11	65820161	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	403226	65820161	69186355	550	3697											
B3GNT1	11041	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	66114615	66114615	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:66114615C>A	ENST00000311181.4	-	1	548	c.402G>T	c.(400-402)ctG>ctT	p.L134L	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	134					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCACCGTGGCCAGCTGCGCCT	0.711																																					p.L134L		.											.	.	.	0			c.G402T						.						10	9	9					11																	66114615		2177	4262	6439	SO:0001819	synonymous_variant	11041	exon1			CGTGGCCAGCTGC	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.402G>T	11.37:g.66114615C>A		22	0		16	8	NM_006876	Q4TTN0	Silent	SNP	ENST00000311181.4	37	CCDS8136.1																																																																																			.		0.711	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		A	66114615	C	A	66114615	2	1	24	1	0	0	0	0	0	0	0	1	1257	581	21	3		3	B3GNT1	11	66114615	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	294454	66114615	68891901	551	3698											
MRPL11	65003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	66203493	66203493	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:66203493T>G	ENST00000310999.7	-	5	657	c.564A>C	c.(562-564)gaA>gaC	p.E188D	MRPL11_ENST00000329819.4_3'UTR|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.E162D	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	188					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						TCTTGGCAGCTTCTTCTTGGG	0.527																																					p.E188D		.											.	.	.	0			c.A564C						.						61	55	57					11																	66203493		2200	4295	6495	SO:0001583	missense	65003	exon5			GGCAGCTTCTTCT	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"Mitochondrial ribosomal proteins / large subunits"	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.564A>C	11.37:g.66203493T>G	ENSP00000308897:p.Glu188Asp	40	0		28	8	NM_016050	A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	37	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002176	0.35320	.	.	ENSG00000174547	ENST00000310999;ENST00000430466	.	.	.	5.13	2.74	0.32292	.	0.295571	0.36815	N	0.002395	T	0.20251	0.0487	N	0.08118	0	0.80722	D	1	D;P	0.54601	0.967;0.902	B;B	0.42738	0.396;0.301	T	0.03364	-1.1044	9	0.52906	T	0.07	-10.3092	4.5368	0.12038	0.0:0.3663:0.0:0.6337	.	162;188	Q9Y3B7-2;Q9Y3B7	.;RM11_HUMAN	D	188;162	.	ENSP00000308897:E188D	E	-	3	2	MRPL11	65960069	0.996000	0.38824	1.000000	0.80357	0.464000	0.32679	0.345000	0.19979	0.777000	0.33496	0.454000	0.30748	GAA	.		0.527	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		G	66203493	T	G	66203493	3	3	24	1	0	0	0	0	1	0	0	0	9814	1606	56	4	18	4	MRPL11	11	66203493	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	88878	66203493	68803023	552	3699											
RBM4	5936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	66410945	66410945	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:66410945C>T	ENST00000409406.1	+	2	1214	c.437C>T	c.(436-438)tCc>tTc	p.S146F	RBM4_ENST00000310092.7_Missense_Mutation_p.S146F|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.S121F|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.S146F|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_Missense_Mutation_p.S121F|RBM4_ENST00000408993.2_Missense_Mutation_p.S146F|RBM4_ENST00000396053.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	146	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTGCAGTTGTCCACCAGCCGG	0.572																																					p.S146F		.											.	.	.	0			c.C437T						.						58	64	62					11																	66410945		2180	4284	6464	SO:0001583	missense	5936	exon3			AGTTGTCCACCAG	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.437C>T	11.37:g.66410945C>T	ENSP00000386894:p.Ser146Phe	43	0		33	14	NM_002896	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445037	0.83993	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000510173;ENST00000409406	T;T;T;T;T;T	0.75477	0.34;-0.94;-0.94;-0.94;-0.94;-0.94	6.06	6.06	0.98353	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	D	0.89420	0.6710	M	0.91872	3.25	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.79784	0.993;0.905	D	0.90815	0.4704	10	0.87932	D	0	-5.0469	18.1147	0.89549	0.0:1.0:0.0:0.0	.	121;146	B0LM41;Q9BWF3	.;RBM4_HUMAN	F	121;146;146;146;146;146;146	ENSP00000388552:S121F;ENSP00000425760:S146F;ENSP00000309166:S146F;ENSP00000386561:S146F;ENSP00000422301:S146F;ENSP00000386894:S146F	ENSP00000388552:S121F	S	+	2	0	RBM4;RBM14-RBM4	66167521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.200000	0.77838	2.882000	0.98803	0.655000	0.94253	TCC	.		0.572	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		T	66410945	C	T	66410945	3	4	24	1	0	0	0	0	1	0	0	0	13179	855	30	3	443	3	RBM4	11	66410945	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	207452	66410945	68595571	553	3700											
CARNS1	57571	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	67186527	67186527	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:67186527A>G	ENST00000307823.3	+	4	748	c.296A>G	c.(295-297)cAg>cGg	p.Q99R	CARNS1_ENST00000445895.2_Missense_Mutation_p.Q222R|CARNS1_ENST00000531040.1_Missense_Mutation_p.Q222R|CARNS1_ENST00000423745.2_Missense_Mutation_p.Q99R	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	99					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						TTGCTGGCCCAGCAGGGTGGT	0.687																																					p.Q222R		.											.	.	.	0			c.A665G						.						5	7	7					11																	67186527		2022	4140	6162	SO:0001583	missense	57571	exon5			TGGCCCAGCAGGG		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.296A>G	11.37:g.67186527A>G	ENSP00000308268:p.Gln99Arg	52	0		29	12	NM_001166222	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947033	0.34377	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000539452;ENST00000423745;ENST00000445895	T;T;T;T	0.32988	1.43;1.44;1.44;1.46	4.38	1.95	0.26073	.	.	.	.	.	T	0.17959	0.0431	N	0.19112	0.55	0.21740	N	0.999563	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.003	T	0.22103	-1.0226	9	0.62326	D	0.03	.	4.8046	0.13314	0.6642:0.1582:0.1777:0.0	.	222;99;238	F5H427;A5YM72;A5YM72-3	.;CRNS1_HUMAN;.	R	222;99;222;238;99;222	ENSP00000431670:Q222R;ENSP00000308268:Q99R;ENSP00000401519:Q99R;ENSP00000389009:Q222R	ENSP00000308268:Q99R	Q	+	2	0	CARNS1	66943103	0.031000	0.19500	0.986000	0.45419	0.792000	0.44763	0.952000	0.29149	0.203000	0.20529	0.459000	0.35465	CAG	.		0.687	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		G	67186527	A	G	67186527	3	3	24	1	0	0	0	0	1	0	0	0	2663	188	7	4	679	4	CARNS1	11	67186527	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	775582	67186527	67819989	554	3701											
NDUFV1	4723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	67378874	67378874	+	Splice_Site	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:67378874G>C	ENST00000322776.6	+	7	1067	c.914G>C	c.(913-915)gGg>gCg	p.G305A	NDUFV1_ENST00000526169.1_Intron|NDUFV1_ENST00000532303.1_Splice_Site_p.G204A|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000529927.1_Splice_Site_p.G296A|NDUFV1_ENST00000415352.2_Splice_Site_p.G298A	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	305					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 respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGGGCCCCAGGGGGTGTCACG	0.657																																					p.G305A		.											.	.	.	0			c.G914C						.						36	38	38					11																	67378874		2200	4292	6492	SO:0001630	splice_region_variant	4723	exon7			CCCCAGGGGGTGT	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.914-1G>C	11.37:g.67378874G>C		52	0		32	15	NM_007103	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286648	0.80803	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	3.91	3.91	0.45181	Soluble ligand binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	H	0.98199	4.17	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.73708	0.981;0.971;0.968	D	0.93356	0.6722	10	0.87932	D	0	.	15.0207	0.71630	0.0:0.0:1.0:0.0	.	298;296;305	G3V0I5;P49821-2;P49821	.;.;NDUV1_HUMAN	A	305;204;296;298;176	ENSP00000322450:G305A;ENSP00000432015:G204A;ENSP00000436766:G296A;ENSP00000395368:G298A	ENSP00000322450:G305A	G	+	2	0	NDUFV1	67135450	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.623000	0.83113	2.173000	0.68751	0.491000	0.48974	GGG	.		0.657	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103	Missense_Mutation	C	67378874	G	C	67378874	5	2	24	1	0	0	0	0	0	0	1	0	10338	1246	43	5	940	5	NDUFV1	11	67378874	Splice_Site	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	192347	67378874	67627642	555	3702											
SHANK2	22941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	70332549	70332549	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:70332549C>T	ENST00000423696.2	-	15	2748	c.2712G>A	c.(2710-2712)gaG>gaA	p.E904E	SHANK2_ENST00000338508.4_Silent_p.E1284E|SHANK2_ENST00000409161.1_Silent_p.E687E|SHANK2_ENST00000449833.2_Silent_p.E688E			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	904					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)			CCAGGTCGGTCTCGTACTTGT	0.612																																					p.E695E		.											.	.	.	0			c.G2085A						.						104	102	102					11																	70332549		2200	4294	6494	SO:0001819	synonymous_variant	22941	exon10			GTCGGTCTCGTAC	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.2712G>A	11.37:g.70332549C>T		35	0		30	13	NM_133266	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37																																																																																				.		0.612	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		T	70332549	C	T	70332549	2	4	24	1	0	0	0	0	0	0	0	1	14310	912	32	3		3	SHANK2	11	70332549	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2953675	70332549	64673967	556	3703											
INPPL1	3636	hgsc.bcm.edu;broad.mit.edu	37	11	71939417	71939417	+	Missense_Mutation	SNP	G	G	A	rs142516692		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:71939417G>A	ENST00000298229.2	+	3	476	c.272G>A	c.(271-273)cGc>cAc	p.R91H	INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						CCTGTGCGCCGCTTCCAGACC	0.662																																					p.R91H		.											INPPL1,NS,carcinoma,0,1	INPPL1	0	0			c.G272A						.	G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	60	61	61		272	4.3	1	11	dbSNP_134	61	0,8586		0,0,4293	no	missense	INPPL1	NM_001567.3	29	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	91/1259	71939417	1,12985	2200	4293	6493	SO:0001583	missense	3636	exon3			TGCGCCGCTTCCA	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.272G>A	11.37:g.71939417G>A	ENSP00000298229:p.Arg91His	35	0		29	3	NM_001567	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	17.31	3.357146	0.61293	2.27E-4	0.0	ENSG00000165458	ENST00000298229	D	0.89123	-2.47	4.3	4.3	0.51218	SH2 motif (5);	0.504726	0.19148	N	0.121520	D	0.90854	0.7127	L	0.49778	1.585	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.87366	0.2347	10	0.15952	T	0.53	.	13.6353	0.62219	0.0:0.0:1.0:0.0	.	91	O15357	SHIP2_HUMAN	H	91	ENSP00000298229:R91H	ENSP00000298229:R91H	R	+	2	0	INPPL1	71617065	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.371000	0.59523	2.236000	0.73375	0.561000	0.74099	CGC	0.000		0.662	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		A	71939417	G	A	71939417	3	1	24	1	0	0	0	0	1	0	0	0	7788	1087	38	1	282	1	INPPL1	11	71939417	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1606868	71939417	63067099	557	3704											
RAB6A	5870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	73427372	73427372	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:73427372C>G	ENST00000336083.3	-	5	780	c.325G>C	c.(325-327)Gat>Cat	p.D109H	RAB6A_ENST00000536566.1_Missense_Mutation_p.D76H|RAB6A_ENST00000310653.6_Missense_Mutation_p.D109H|RAB6A_ENST00000541588.1_Intron	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	109					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						CTGACATCATCAATCCACTTT	0.403																																					p.D109H		.											.	.	.	0			c.G325C						.						160	139	146					11																	73427372		2200	4293	6493	SO:0001583	missense	5870	exon5			CATCATCAATCCA	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"RAB, member RAS oncogene"	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.325G>C	11.37:g.73427372C>G	ENSP00000336850:p.Asp109His	81	0		52	26	NM_002869	A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	ENST00000336083.3	37	CCDS8224.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.629171|4.629171	0.87560|0.87560	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000536566;ENST00000539750|ENST00000541973;ENST00000400470	T;T;T|.	0.77750|.	-1.12;-1.12;-1.12|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66963|0.66963	0.2843|0.2843	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	P;D|.	0.56746|.	0.946;0.977|.	P;P|.	0.58873|.	0.847;0.762|.	T|T	0.61058|0.61058	-0.7139|-0.7139	10|5	0.87932|.	D|.	0|.	-5.0518|-5.0518	18.9443|18.9443	0.92616|0.92616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	109;109|.	P20340;P20340-2|.	RAB6A_HUMAN;.|.	H|F	109;109;109;76;109|101;100	ENSP00000311449:D109H;ENSP00000336850:D109H;ENSP00000437863:D76H|.	ENSP00000311449:D109H|.	D|L	-|-	1|3	0|2	RAB6A|RAB6A	73105020|73105020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.725000|2.725000	0.93324|0.93324	0.591000|0.591000	0.81541|0.81541	GAT|TTG	.		0.403	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			G	73427372	C	G	73427372	3	3	24	1	0	0	0	0	1	0	0	0	12996	826	29	5	317	5	RAB6A	11	73427372	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1487955	73427372	61579144	558	3705											
DNAJB13	374407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	73679407	73679407	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:73679407A>G	ENST00000339764.1	+	6	1375	c.624A>G	c.(622-624)ccA>ccG	p.P208P	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Silent_p.P33P|DNAJB13_ENST00000543947.1_Silent_p.P33P	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	208					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACATCATCCCAGCAGACATCA	0.542																																					p.P208P		.											.	.	.	0			c.A624G						.						162	119	133					11																	73679407		2200	4293	6493	SO:0001819	synonymous_variant	374407	exon6			CATCCCAGCAGAC	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.624A>G	11.37:g.73679407A>G		43	0		48	12	NM_153614	B3LEP4|Q8IZW5	Silent	SNP	ENST00000339764.1	37	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	a	14.75	2.629279	0.46944	.	.	ENSG00000187726	ENST00000542350	.	.	.	5.23	-1.07	0.09968	.	.	.	.	.	T	0.43166	0.1235	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	.	3.659	0.08232	0.4886:0.0:0.2573:0.2542	.	.	.	.	G	109	.	.	S	+	1	0	DNAJB13	73357055	0.058000	0.20735	0.979000	0.43373	0.977000	0.68977	-0.680000	0.05197	-0.371000	0.08004	0.359000	0.22050	AGC	.		0.542	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		G	73679407	A	G	73679407	2	3	24	1	0	0	0	0	0	0	0	1	4632	175	7	4		4	DNAJB13	11	73679407	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	252035	73679407	61327109	559	3706											
MYO7A	4647	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	76885944	76885944	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:76885944A>C	ENST00000409709.3	+	17	2350	c.2078A>C	c.(2077-2079)aAg>aCg	p.K693T	MYO7A_ENST00000458637.2_Missense_Mutation_p.K693T|MYO7A_ENST00000409619.2_Missense_Mutation_p.K682T|MYO7A_ENST00000409893.1_Missense_Mutation_p.K693T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	693	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)			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						CCAGGTGTGAAGCCGGCCTAC	0.592																																					p.K693T		.											.	.	.	0			c.A2078C						.						48	52	51					11																	76885944		2045	4177	6222	SO:0001583	missense	4647	exon17			GTGTGAAGCCGGC	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.2078A>C	11.37:g.76885944A>C	ENSP00000386331:p.Lys693Thr	25	0		35	13	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051133	0.55218	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.21	5.21	0.72293	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	N	0.25647	0.755	0.58432	D	0.999999	P;B;P	0.47191	0.891;0.024;0.605	P;B;P	0.55508	0.777;0.022;0.601	D	0.85944	0.1460	10	0.33940	T	0.23	.	15.091	0.72195	1.0:0.0:0.0:0.0	.	693;693;693	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	693;693;693;682;692;692;569;692	ENSP00000386331:K693T;ENSP00000386689:K693T;ENSP00000392185:K693T;ENSP00000386635:K682T	ENSP00000345075:K569T	K	+	2	0	MYO7A	76563592	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.866000	0.92307	1.972000	0.57404	0.391000	0.25812	AAG	.		0.592	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		C	76885944	A	C	76885944	3	2	24	1	0	0	0	0	1	0	0	0	10120	72	3	4	2140	4	MYO7A	11	76885944	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3206537	76885944	58120572	560	3707											
GDPD4	220032	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	76954813	76954813	+	Silent	SNP	G	G	A	rs199737312		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:76954813G>A	ENST00000376217.2	-	12	1417	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	GDPD4_ENST00000315938.4_Silent_p.S389S			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	389	GP-PDE.				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						GGGTTTCAATGGATACTAAAC	0.413													G|||	1	0.000199681	0	0	5008	,	,		16134	0		0	False		,,,				2504	0.001				p.S389S		.											.	.	.	0			c.C1167T						.						115	107	110					11																	76954813		2200	4292	6492	SO:0001819	synonymous_variant	220032	exon12			TTCAATGGATACT	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.1167C>T	11.37:g.76954813G>A		138	0		68	22	NM_182833	Q7Z5B0	Silent	SNP	ENST00000376217.2	37																																																																																				0.001		0.413	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		A	76954813	G	A	76954813	2	1	24	1	0	0	0	0	0	0	0	1	6352	1335	47	3		3	GDPD4	11	76954813	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	68869	76954813	58051703	561	3708											
PCF11	51585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	82877696	82877696	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:82877696A>G	ENST00000298281.4	+	5	2209	c.1757A>G	c.(1756-1758)gAa>gGa	p.E586G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	586					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)		p.N587fs*33(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GAGAATGTAGAAAACTGGCAA	0.393																																					p.E586G		.											PCF11_ENST00000298281,bladder,carcinoma,+1,1	PCF11_ENST00000298281	+1	1	Deletion - Frameshift(1)	NS(1)	c.A1757G						.						67	67	67					11																	82877696		1807	4027	5834	SO:0001583	missense	51585	exon5			ATGTAGAAAACTG	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.1757A>G	11.37:g.82877696A>G	ENSP00000298281:p.Glu586Gly	124	0		77	30	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971908	0.74246	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52983	1.62;0.66;0.64	6.07	6.07	0.98685	.	0.095438	0.46145	D	0.000315	T	0.48822	0.1521	L	0.29908	0.895	0.48762	D	0.999705	D;P	0.60575	0.988;0.457	P;B	0.52343	0.696;0.129	T	0.38887	-0.9640	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	586;586	E9PQ01;O94913	.;PCF11_HUMAN	G	586	ENSP00000298281:E586G;ENSP00000434540:E586G;ENSP00000431567:E586G	.	E	+	2	0	PCF11	82555344	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	6.337000	0.72958	2.326000	0.78906	0.533000	0.62120	GAA	.		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877696	A	G	82877696	3	3	24	1	0	0	0	0	1	0	0	0	11612	246	9	4	1775	4	PCF11	11	82877696	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	5922883	82877696	52128820	562	3709	34	4	2	4		6	3	60	N	AA_A	1.438178e-06
PCF11	51585	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	82877699	82877699	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:82877699A>C	ENST00000298281.4	+	5	2212	c.1760A>C	c.(1759-1761)aAc>aCc	p.N587T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	587					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						AATGTAGAAAACTGGCAAAGT	0.383																																					p.N587T		.											PCF11_ENST00000298281,colon,carcinoma,0,2	PCF11_ENST00000298281	0	0			c.A1760C						.						68	68	68					11																	82877699		1810	4019	5829	SO:0001583	missense	51585	exon5			TAGAAAACTGGCA	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.1760A>C	11.37:g.82877699A>C	ENSP00000298281:p.Asn587Thr	126	0		77	31	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888291	0.52014	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.51817	1.66;0.73;0.69	6.07	3.77	0.43336	.	0.089474	0.48767	D	0.000180	T	0.51975	0.1706	L	0.29908	0.895	0.32337	N	0.560265	D;D	0.67145	0.996;0.993	P;D	0.70935	0.824;0.971	T	0.58317	-0.7657	9	.	.	.	.	10.3418	0.43882	0.8681:0.0:0.1319:0.0	.	587;587	E9PQ01;O94913	.;PCF11_HUMAN	T	587	ENSP00000298281:N587T;ENSP00000434540:N587T;ENSP00000431567:N587T	.	N	+	2	0	PCF11	82555347	0.999000	0.42202	0.999000	0.59377	0.983000	0.72400	3.003000	0.49505	0.541000	0.28827	0.533000	0.62120	AAC	.		0.383	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82877699	A	C	82877699	3	2	24	1	0	0	0	0	1	0	0	0	11612	43	2	4	1778	4	PCF11	11	82877699	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3	82877699	52128817	563	3710	34	4	2	4		6	3	60	N	AA_A	1.438178e-06
PCF11	51585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	82877706	82877707	+	Missense_Mutation	DNP	AA	AA	CC			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	AA	AA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:82877706_82877707AA>CC	ENST00000298281.4	+	5	2219_2220	c.1767_1768AA>CC	c.(1765-1770)caAAgt>caCCgt	p.589_590QS>HR		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	589					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						AAAACTGGCAAAGTTCCAAGTC	0.376																																					p.QS589HR		.											PCF11_ENST00000298281,NS,carcinoma,0,2	PCF11_ENST00000298281	0	0			c.A1768C						.																																			SO:0001583	missense	51585	exon5			TGGCAAAGTTCCA	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	Exception_encountered	11.37:g.82877706_82877707delinsCC	ENSP00000298281:p.Q589_S590delinsHR	130	0		94	37	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	DNP	ENST00000298281.4	37	CCDS44689.1																																																																																			.		0.376	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		CC	82877707	AA	CC	82877706	3	2	24	1	0	0	0	0	1	0	0	0	11612	11	1	4	1785	4	PCF11	11	82877706	Missense_Mutation	DNP	AA	TCGA-W5-AA39-01A-11D-A417-09	7	82877706	52128810	564	3711	34	4	2	4		6	3	60	N	AA_A	1.438178e-06
PCF11	51585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	82877714	82877714	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:82877714A>C	ENST00000298281.4	+	5	2227	c.1775A>C	c.(1774-1776)aAg>aCg	p.K592T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	592					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						CAAAGTTCCAAGTCTGCCAAA	0.363																																					p.K592T		.											.	.	.	0			c.A1775C						.						71	71	71					11																	82877714		1780	3942	5722	SO:0001583	missense	51585	exon5			GTTCCAAGTCTGC	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.1775A>C	11.37:g.82877714A>C	ENSP00000298281:p.Lys592Thr	137	0		107	48	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781222	0.70222	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52526	1.62;0.66;0.66	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.58595	0.2133	L	0.32530	0.975	0.51482	D	0.999927	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.55159	-0.8184	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	592;592	E9PQ01;O94913	.;PCF11_HUMAN	T	592	ENSP00000298281:K592T;ENSP00000434540:K592T;ENSP00000431567:K592T	.	K	+	2	0	PCF11	82555362	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.414000	0.73318	2.326000	0.78906	0.533000	0.62120	AAG	.		0.363	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82877714	A	C	82877714	3	2	24	1	0	0	0	0	1	0	0	0	11612	72	3	4	1793	4	PCF11	11	82877714	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8	82877714	52128802	565	3712	34	4	2	4		6	3	60	N	AA_A	1.438178e-06
PCF11	51585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	82877732	82877732	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:82877732A>C	ENST00000298281.4	+	5	2245	c.1793A>C	c.(1792-1794)aAa>aCa	p.K598T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	598					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						AAAAGATGGAAATCTGGTTGG	0.338																																					p.K598T		.											.	.	.	0			c.A1793C						.						75	77	76					11																	82877732		1737	3792	5529	SO:0001583	missense	51585	exon5			GATGGAAATCTGG	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.1793A>C	11.37:g.82877732A>C	ENSP00000298281:p.Lys598Thr	162	0		124	44	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300870	0.60195	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.55413	1.49;0.56;0.52	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000005	T	0.58352	0.2116	L	0.29908	0.895	0.41517	D	0.98837	D;D	0.76494	0.999;0.993	P;P	0.60012	0.867;0.813	T	0.56183	-0.8021	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	598;598	E9PQ01;O94913	.;PCF11_HUMAN	T	598	ENSP00000298281:K598T;ENSP00000434540:K598T;ENSP00000431567:K598T	.	K	+	2	0	PCF11	82555380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.626000	0.74253	2.326000	0.78906	0.533000	0.62120	AAA	.		0.338	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82877732	A	C	82877732	3	2	24	1	0	0	0	0	1	0	0	0	11612	14	1	4	1811	4	PCF11	11	82877732	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	18	82877732	52128784	566	3713			2	4		6	3	60	N	AA_A	1.438178e-06
PCF11	51585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	82877755	82877755	+	Splice_Site	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:82877755A>C	ENST00000298281.4	+	5	2268	c.1816A>C	c.(1816-1818)Agc>Cgc	p.S606R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	606					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						AGAAAATAAAAGGTATGATGT	0.323																																					p.S606R		.											.	.	.	0			c.A1816C						.						71	75	74					11																	82877755		1668	3590	5258	SO:0001630	splice_region_variant	51585	exon5			AATAAAAGGTATG	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.1817+1A>C	11.37:g.82877755A>C		166	0		130	62	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161686	0.38119	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46063	1.87;0.88;0.88	5.93	5.93	0.95920	.	0.078146	0.56097	D	0.000035	T	0.27798	0.0684	N	0.19112	0.55	0.34337	D	0.688379	P;B	0.48764	0.915;0.421	B;B	0.36922	0.236;0.08	T	0.37596	-0.9699	9	.	.	.	.	16.3839	0.83495	1.0:0.0:0.0:0.0	.	606;606	E9PQ01;O94913	.;PCF11_HUMAN	R	606	ENSP00000298281:S606R;ENSP00000434540:S606R;ENSP00000431567:S606R	.	S	+	1	0	PCF11	82555403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.191000	0.72063	2.258000	0.74832	0.533000	0.62120	AGC	.		0.323	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	Missense_Mutation	C	82877755	A	C	82877755	5	2	24	1	0	0	0	0	0	0	1	0	11612	86	3	4	1834	4	PCF11	11	82877755	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	23	82877755	52128761	567	3714			2	4		6	3	60	N	AA_A	1.438178e-06
ANKRD42	338699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	82935942	82935942	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:82935942T>G	ENST00000393392.2	+	6	710	c.548T>G	c.(547-549)cTa>cGa	p.L183R	ANKRD42_ENST00000533342.1_Missense_Mutation_p.L211R|ANKRD42_ENST00000260047.6_Missense_Mutation_p.L210R|ANKRD42_ENST00000531895.1_Missense_Mutation_p.L211R	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	183					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTCAAATTCCTAGTCAGTAGA	0.338																																					p.L183R		.											.	.	.	0			c.T548G						.						84	86	86					11																	82935942		2203	4300	6503	SO:0001583	missense	338699	exon6			AATTCCTAGTCAG	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.548T>G	11.37:g.82935942T>G	ENSP00000377051:p.Leu183Arg	112	0		81	34	NM_182603	Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.080183	0.76528	.	.	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.000000	0.47455	D	0.000221	D	0.91576	0.7339	M	0.91663	3.23	0.48571	D	0.999671	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	0.93239	0.6624	9	.	.	.	-2.8408	14.8967	0.70649	0.0:0.0:0.0:1.0	.	211;475;302;183	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	R	530;210;211;183;211	ENSP00000260047:L210R;ENSP00000434666:L211R;ENSP00000377051:L183R;ENSP00000435790:L211R	.	L	+	2	0	ANKRD42	82613590	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.427000	0.66483	2.154000	0.67381	0.533000	0.62120	CTA	.		0.338	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		G	82935942	T	G	82935942	3	3	24	1	0	0	0	0	1	0	0	0	670	1522	53	4	570	4	ANKRD42	11	82935942	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	58187	82935942	52070574	568	3715											
CCDC83	220047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	85630420	85630420	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:85630420T>A	ENST00000342404.3	+	11	1325	c.1109T>A	c.(1108-1110)gTg>gAg	p.V370E	CCDC83_ENST00000376067.1_Missense_Mutation_p.V270E|CCDC83_ENST00000280245.4_Missense_Mutation_p.V401E|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	370										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)				CCCCTGGGAGTGAAGCTTATG	0.423																																					p.V401E		.											.	.	.	0			c.T1202A						.						133	129	130					11																	85630420		2203	4299	6502	SO:0001583	missense	220047	exon12			TGGGAGTGAAGCT	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.1109T>A	11.37:g.85630420T>A	ENSP00000344512:p.Val370Glu	87	0		70	30	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.2|23.2	4.387093|4.387093	0.82902|0.82902	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404|ENST00000526729	T;T;T|.	0.49139|.	0.79;0.79;0.79|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.306181|.	0.28279|.	N|.	0.015931|.	T|.	0.63177|.	0.2489|.	M|M	0.70595|0.70595	2.14|2.14	0.30934|0.30934	N|N	0.726625|0.726625	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.70716|.	0.967;0.948;0.97|.	T|.	0.67292|.	-0.5707|.	9|.	.|.	.|.	.|.	-15.2766|-15.2766	12.5134|12.5134	0.56017|0.56017	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	270;370;401|.	Q8IWF9-3;Q8IWF9;Q8IWF9-2|.	.;CCD83_HUMAN;.|.	E|R	401;270;370|275	ENSP00000280245:V401E;ENSP00000365235:V270E;ENSP00000344512:V370E|.	.|.	V|X	+|+	2|1	0|0	CCDC83|CCDC83	85308068|85308068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	1.570000|1.570000	0.36439|0.36439	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	GTG|TGA	.		0.423	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		A	85630420	T	A	85630420	3	1	24	1	0	0	0	0	1	0	0	0	2864	1696	59	5	1244	5	CCDC83	11	85630420	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2694478	85630420	49376096	569	3716											
TAF1D	79101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	93469419	93469419	+	Missense_Mutation	SNP	A	A	C	rs554467119		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:93469419A>C	ENST00000448108.2	-	6	1395	c.745T>G	c.(745-747)Tta>Gta	p.L249V	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank|SNORA18_ENST00000384416.1_RNA|MIR1304_ENST00000408243.1_RNA|SNORD5_ENST00000459342.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	249					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 initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCTTCTTCTAAGTATACACTC	0.358																																					p.L249V		.											.	.	.	0			c.T745G						.						103	99	100					11																	93469419		2201	4297	6498	SO:0001583	missense	79101	exon6			CTTCTAAGTATAC		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.745T>G	11.37:g.93469419A>C	ENSP00000410409:p.Leu249Val	105	0		64	25	NM_024116	Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653242	0.14580	.	.	ENSG00000166012	ENST00000448108	.	.	.	4.81	-3.46	0.04767	.	0.648268	0.12540	N	0.459982	T	0.18299	0.0439	L	0.34521	1.04	0.09310	N	1	B	0.31318	0.319	B	0.26416	0.069	T	0.11012	-1.0605	9	0.44086	T	0.13	-11.2881	1.8018	0.03073	0.3435:0.164:0.354:0.1384	.	249	Q9H5J8	TAF1D_HUMAN	V	249	.	ENSP00000314971:L249V	L	-	1	2	TAF1D	93109067	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	0.035000	0.13797	-0.759000	0.04684	-0.441000	0.05720	TTA	.		0.358	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		C	93469419	A	C	93469419	3	2	24	1	0	0	0	0	1	0	0	0	15569	69	3	4	95	4	TAF1D	11	93469419	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7838999	93469419	41537097	570	3717											
PANX1	24145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	93886741	93886741	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:93886741A>T	ENST00000227638.3	+	2	651	c.266A>T	c.(265-267)cAg>cTg	p.Q89L	PANX1_ENST00000436171.2_Missense_Mutation_p.Q89L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	89					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)	GCGGCTGTTCAGCAGAAGAAC	0.463																																					p.Q89L		.											.	.	.	0			c.A266T						.						138	128	131					11																	93886741		2201	4298	6499	SO:0001583	missense	24145	exon2			CTGTTCAGCAGAA	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.266A>T	11.37:g.93886741A>T	ENSP00000227638:p.Gln89Leu	43	0		27	14	NM_015368	O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306754	0.40795	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.29917	1.55;1.55	4.58	4.58	0.56647	.	0.139560	0.47093	D	0.000251	T	0.38427	0.1040	M	0.66939	2.045	0.58432	D	0.999999	P;P	0.49559	0.925;0.908	P;B	0.48270	0.572;0.436	T	0.18272	-1.0342	10	0.26408	T	0.33	-7.2132	12.9567	0.58432	1.0:0.0:0.0:0.0	.	89;89	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	L	89	ENSP00000227638:Q89L;ENSP00000411461:Q89L	ENSP00000227638:Q89L	Q	+	2	0	PANX1	93526389	1.000000	0.71417	0.986000	0.45419	0.357000	0.29423	7.862000	0.87013	1.697000	0.51169	0.533000	0.62120	CAG	.		0.463	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		T	93886741	A	T	93886741	3	4	24	1	0	0	0	0	1	0	0	0	11459	188	7	5	272	5	PANX1	11	93886741	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	417322	93886741	41119775	571	3718											
BIRC3	330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	102198793	102198793	+	Missense_Mutation	SNP	T	T	G	rs373892386		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:102198793T>G	ENST00000263464.3	+	4	3714	c.964T>G	c.(964-966)Ttg>Gtg	p.L322V	BIRC3_ENST00000532808.1_Missense_Mutation_p.L322V	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	322					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)		GTGTGAGTACTTGATAAGAAT	0.313			T	MALT1	MALT																																p.L322V		.		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	.	0			c.T964G						.	T	VAL/LEU,VAL/LEU	0,4406		0,0,2203	74	73	74		964,964	5.1	0.9	11		74	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BIRC3	NM_001165.4,NM_182962.2	32,32	0,1,6501	GG,GT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	322/605,322/605	102198793	1,13003	2203	4299	6502	SO:0001583	missense	330	exon4			GAGTACTTGATAA	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.964T>G	11.37:g.102198793T>G	ENSP00000263464:p.Leu322Val	52	0		42	14	NM_001165	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215294	0.58452	0.0	1.16E-4	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609;ENST00000527309	T;T;T	0.71103	-0.54;-0.54;-0.42	5.14	5.14	0.70334	Baculoviral inhibition of apoptosis protein repeat (5);	0.063724	0.64402	D	0.000005	T	0.63486	0.2515	L	0.31578	0.945	0.80722	D	1	P	0.38922	0.651	P	0.45474	0.482	T	0.62868	-0.6763	10	0.37606	T	0.19	.	9.6814	0.40072	0.0:0.121:0.0:0.879	.	322	Q13489	BIRC3_HUMAN	V	322;322;171;126	ENSP00000263464:L322V;ENSP00000432907:L322V;ENSP00000431718:L126V	ENSP00000263464:L322V	L	+	1	2	BIRC3	101704003	1.000000	0.71417	0.879000	0.34478	0.986000	0.74619	0.794000	0.26958	2.285000	0.76669	0.533000	0.62120	TTG	.		0.313	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102198793	T	G	102198793	3	3	24	1	0	0	0	0	1	0	0	0	1438	1606	56	4	974	4	BIRC3	11	102198793	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	8312052	102198793	32807723	572	3719											
ELMOD1	55531	hgsc.bcm.edu	37	11	107518233	107518234	+	In_Frame_Ins	INS	-	-	GGATTTCTA			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:107518233_107518234insGGATTTCTA	ENST00000265840.7	+	7	725_726	c.460_461insGGATTTCTA	c.(460-462)cgg>cGGATTTCTAgg	p.154_154R>RISR	ELMOD1_ENST00000443271.2_In_Frame_Ins_p.154_154R>RISR|ELMOD1_ENST00000531234.1_In_Frame_Ins_p.148_148R>RISR	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	154	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)		ACTGGAATCTCGGATTTCTAAG	0.386																																					p.R154delinsRISR		.											.	.	.	0			c.460_461insGGATTTCTA						.																																			SO:0001652	inframe_insertion	55531	exon7			GAATCTCGGATTT	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.461_469dupGGATTTCTA	11.37:g.107518234_107518242dupGGATTTCTA	Exception_encountered	98	0		54	0	NM_018712	B4E167|G5E9S5|Q9NPW3	In_Frame_Ins	INS	ENST00000265840.7	37	CCDS44723.1																																																																																			.		0.386	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		GGATTTCTA	107518234	-	GGATTTCTA	107518233	7	5	24	1	0	1	1	0	0	0	0	0	5084	875	31	0	482	0	ELMOD1	11	107518233	In_Frame_Ins	INS	-	TCGA-W5-AA39-01A-11D-A417-09	5319440	107518233	27488283	573	3720											
RDX	5962	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	110124822	110124822	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:110124822A>T	ENST00000343115.4	-	9	1127	c.808T>A	c.(808-810)Tat>Aat	p.Y270N	RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.Y134N|RDX_ENST00000528498.1_Missense_Mutation_p.Y270N|RDX_ENST00000528900.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.Y270N	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	270	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		CGAGGTGCATAAAACACAAAA	0.343																																					p.Y270N	Esophageal Squamous(55;25 1062 11040 28755 44273)												.	RDX	59	0			c.T808A						.						71	64	66					11																	110124822		2201	4298	6499	SO:0001583	missense	5962	exon9			GTGCATAAAACAC	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.808T>A	11.37:g.110124822A>T	ENSP00000342830:p.Tyr270Asn	71	0		40	18	NM_001260493	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995571	0.74703	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.72	5.72	0.89469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	L	0.41961	1.31	0.80722	D	1	P;D;B	0.63046	0.523;0.992;0.052	B;D;B	0.66351	0.218;0.943;0.241	D	0.88790	0.3277	10	0.32370	T	0.25	.	16.0055	0.80359	1.0:0.0:0.0:0.0	.	134;270;270	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	N	270;270;270;270;134	ENSP00000432112:Y270N;ENSP00000384136:Y270N;ENSP00000342830:Y270N;ENSP00000445826:Y134N	ENSP00000342830:Y270N	Y	-	1	0	RDX	109630032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.274000	0.95731	2.184000	0.69523	0.533000	0.62120	TAT	.		0.343	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		T	110124822	A	T	110124822	3	4	24	1	0	0	0	0	1	0	0	0	13243	362	13	5	967	5	RDX	11	110124822	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2606589	110124822	24881694	574	3721											
C11orf88	399949	broad.mit.edu;bcgsc.ca	37	11	111385536	111385536	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:111385536T>A	ENST00000375618.4	+	1	27	c.27T>A	c.(25-27)ccT>ccA	p.P9P	MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000332814.6_Silent_p.P9P|BTG4_ENST00000525791.1_5'Flank|BTG4_ENST00000356018.2_5'Flank|C11orf88_ENST00000529167.1_Silent_p.P9P|RP11-794P6.6_ENST00000530283.1_RNA|MIR34C_ENST00000384831.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	9										endometrium(1)|large_intestine(3)|lung(2)	6						GCGAAGAACCTAGCGGCCGAA	0.617											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P9P													.	C11orf88	37	0			c.T27A						.						49	55	53					11																	111385536		1858	4092	5950	SO:0001819	synonymous_variant	399949	exon1			AGAACCTAGCGGC	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.27T>A	11.37:g.111385536T>A		42	1	1434	39	14	NM_001100388	E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	CCDS41713.1																																																																																			.		0.617	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		A	111385536	T	A	111385536	2	1	24	1	0	0	0	0	0	0	0	1	1675	1509	53	5		5	C11orf88	11	111385536	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1260714	111385536	23620980	575	3722											
C11orf52	91894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	111796729	111796729	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:111796729C>A	ENST00000278601.5	+	4	274	c.178C>A	c.(178-180)Caa>Aaa	p.Q60K	HSPB2-C11orf52_ENST00000534100.1_3'UTR|C11orf52_ENST00000527286.1_3'UTR|RNA5SP351_ENST00000459480.1_RNA|CRYAB_ENST00000527950.1_5'Flank|DIXDC1_ENST00000529225.1_5'Flank	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	60						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		GTTACAGCAGCAAGGGTCTCA	0.517																																					p.Q60K		.											.	.	.	0			c.C178A						.						125	93	104					11																	111796729		2201	4297	6498	SO:0001583	missense	91894	exon4			CAGCAGCAAGGGT	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.178C>A	11.37:g.111796729C>A	ENSP00000278601:p.Gln60Lys	53	0		26	6	NM_080659		Missense_Mutation	SNP	ENST00000278601.5	37	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804347	0.31869	.	.	ENSG00000149300	ENST00000278601	T	0.42513	0.97	4.72	0.61	0.17580	.	0.992547	0.08184	N	0.984957	T	0.23133	0.0559	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.22626	-1.0211	10	0.39692	T	0.17	1.1359	3.6902	0.08343	0.1726:0.5512:0.0:0.2762	.	60	Q96A22	CK052_HUMAN	K	60	ENSP00000278601:Q60K	ENSP00000278601:Q60K	Q	+	1	0	C11orf52	111301939	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.110000	0.10824	-0.043000	0.13513	0.561000	0.74099	CAA	.		0.517	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		A	111796729	C	A	111796729	3	1	24	1	0	0	0	0	1	0	0	0	1652	711	25	3	192	3	C11orf52	11	111796729	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	411193	111796729	23209787	576	3723											
DLAT	1737	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	111933226	111933226	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:111933226G>A	ENST00000280346.6	+	14	2570	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	DLAT_ENST00000537636.1_Silent_p.K408K|DLAT_ENST00000393051.1_Silent_p.K532K	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	637	Catalytic. {ECO:0000250}.				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)		AGTTTAGAAAGTACCTTGAAA	0.408																																					p.K637K													.	DLAT	39	0			c.G1911A						.						136	139	138					11																	111933226		2201	4297	6498	SO:0001819	synonymous_variant	1737	exon14			TAGAAAGTACCTT	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.1911G>A	11.37:g.111933226G>A		156	1		90	35	NM_001931	Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	37	CCDS8354.1																																																																																			.		0.408	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		A	111933226	G	A	111933226	2	1	24	1	0	0	0	0	0	0	0	1	4563	1020	36	3		3	DLAT	11	111933226	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	136497	111933226	23073290	577	3724											
BCO2	83875	hgsc.bcm.edu	37	11	112065435	112065435	+	Silent	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:112065435G>T	ENST00000357685.5	+	5	828	c.693G>T	c.(691-693)ctG>ctT	p.L231L	AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000532593.1_Silent_p.L126L|BCO2_ENST00000531169.1_Silent_p.L197L|BCO2_ENST00000526088.1_Silent_p.L197L|BCO2_ENST00000438022.1_Silent_p.L197L|BCO2_ENST00000393032.2_Silent_p.L197L|BCO2_ENST00000361053.4_Intron			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	231			L -> P (in dbSNP:rs10891338). {ECO:0000269|PubMed:11278918, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}.		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						ATTATGACCTGGATGGAACAG	0.408																																					p.L231L	GBM(177;1916 2099 21049 29541 39946)	.											BCO2,NS,carcinoma,0,1	BCO2	0	0			c.G693T						.						167	155	159					11																	112065435		2201	4297	6498	SO:0001819	synonymous_variant	83875	exon5			TGACCTGGATGGA	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.693G>T	11.37:g.112065435G>T		58	0		33	2	NM_031938	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	ENST00000357685.5	37	CCDS8358.2																																																																																			.		0.408	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		T	112065435	G	T	112065435	2	4	24	1	0	0	0	0	0	0	0	1	1386	1335	47	3		3	BCO2	11	112065435	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	132209	112065435	22941081	578	3725											
TTC12	54970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	113230696	113230696	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:113230696C>A	ENST00000529221.1	+	18	1685	c.1580C>A	c.(1579-1581)tCt>tAt	p.S527Y	TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Missense_Mutation_p.S533Y|TTC12_ENST00000393020.1_Missense_Mutation_p.S527Y|TTC12_ENST00000314756.3_Missense_Mutation_p.S527Y	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	527										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|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)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGGTGCCTGTCTTTACTAAAC	0.453																																					p.S527Y		.											.	.	.	0			c.C1580A						.						82	73	76					11																	113230696		2200	4296	6496	SO:0001583	missense	54970	exon18			GCCTGTCTTTACT	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1580C>A	11.37:g.113230696C>A	ENSP00000433757:p.Ser527Tyr	24	0		29	18	NM_017868	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653070	0.14580	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.86	-0.752	0.11072	Armadillo-like helical (1);Armadillo-type fold (1);	1.300330	0.04602	N	0.398678	T	0.44829	0.1312	M	0.67953	2.075	0.09310	N	1	P;P	0.35411	0.5;0.5	B;B	0.33521	0.165;0.165	T	0.42699	-0.9436	10	0.66056	D	0.02	0.7299	5.7321	0.18047	0.0:0.5011:0.1259:0.373	.	527;527	A8K8G6;Q9H892	.;TTC12_HUMAN	Y	527;527;527;533	ENSP00000433757:S527Y;ENSP00000315160:S527Y;ENSP00000376743:S527Y;ENSP00000419652:S533Y	ENSP00000315160:S527Y	S	+	2	0	TTC12	112735906	0.017000	0.18338	0.006000	0.13384	0.108000	0.19459	-0.143000	0.10296	-0.103000	0.12175	-0.145000	0.13849	TCT	.		0.453	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		A	113230696	C	A	113230696	3	1	24	1	0	0	0	0	1	0	0	0	16728	913	32	3	1646	3	TTC12	11	113230696	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1165261	113230696	21775820	579	3726											
USP28	57646	hgsc.bcm.edu	37	11	113683165	113683165	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:113683165C>A	ENST00000003302.4	-	16	1873	c.1805G>T	c.(1804-1806)tGg>tTg	p.W602L	USP28_ENST00000544967.1_Missense_Mutation_p.W310L|USP28_ENST00000545540.1_Missense_Mutation_p.W477L|USP28_ENST00000260188.5_Missense_Mutation_p.W602L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	602	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATAGGCCCAATAGTGTCC	0.443																																					p.W602L	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	.											USP28,NS,carcinoma,0,1	USP28	0	0			c.G1805T						.						136	140	139					11																	113683165		2201	4296	6497	SO:0001583	missense	57646	exon16			TAGGCCCAATAGT	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1805G>T	11.37:g.113683165C>A	ENSP00000003302:p.Trp602Leu	31	0		24	2	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991744	0.93106	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.38	5.38	0.77491	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.67953	2.075	0.80722	D	1	D;D;D	0.60575	0.984;0.988;0.98	P;D;P	0.72338	0.866;0.977;0.79	T	0.58457	-0.7633	10	0.72032	D	0.01	-8.4685	19.1336	0.93417	0.0:1.0:0.0:0.0	.	477;602;310	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	L	602;602;310;477;306	ENSP00000003302:W602L;ENSP00000260188:W602L;ENSP00000442431:W310L;ENSP00000444991:W477L;ENSP00000442257:W306L	ENSP00000003302:W602L	W	-	2	0	USP28	113188375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.655000	0.94253	TGG	.		0.443	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			A	113683165	C	A	113683165	3	1	24	1	0	0	0	0	1	0	0	0	17107	595	21	3	1468	3	USP28	11	113683165	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	452469	113683165	21323351	580	3727											
ZBTB16	7704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	114121244	114121244	+	Silent	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:114121244A>T	ENST00000335953.4	+	7	2369	c.1989A>T	c.(1987-1989)atA>atT	p.I663I	ZBTB16_ENST00000392996.2_Silent_p.I663I|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	663					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)		ACTGGAGGATAGAGAAGACGT	0.597																																					p.I663I		.											.	.	.	0			c.A1989T						.						65	62	63					11																	114121244		2201	4296	6497	SO:0001819	synonymous_variant	7704	exon7			GAGGATAGAGAAG	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.1989A>T	11.37:g.114121244A>T		32	0		17	10	NM_006006	Q8TAL4	Silent	SNP	ENST00000335953.4	37	CCDS8367.1																																																																																			.		0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		T	114121244	A	T	114121244	2	4	24	1	0	0	0	0	0	0	0	1	17574	410	15	5		5	ZBTB16	11	114121244	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	438079	114121244	20885272	581	3728											
PAFAH1B2	5049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	117030734	117030734	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:117030734T>G	ENST00000527958.1	+	3	325	c.166T>G	c.(166-168)Tat>Gat	p.Y56D	PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.Y56D|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.Y56D|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.Y56D	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	56					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		AATGCAGCAATATGAGGTAAA	0.408			T	IGH@	MLCLS																																p.Y56D		.		Dom	yes		11	11q23	5049	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"		L	.	.	.	0			c.T166G						.						247	227	234					11																	117030734		2201	4296	6497	SO:0001583	missense	5049	exon3			CAGCAATATGAGG	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"PAF-AH1b alpha 2 subunit"	602508	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.166T>G	11.37:g.117030734T>G	ENSP00000435289:p.Tyr56Asp	69	0		46	15	NM_001184747	A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	ENST00000527958.1	37	CCDS8380.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675024	0.67928	.	.	ENSG00000168092	ENST00000527958;ENST00000419197;ENST00000529887;ENST00000530272	T;T;T	0.42131	0.98;0.99;0.99	5.72	4.53	0.55603	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.170349	0.53938	D	0.000057	T	0.43787	0.1263	N	0.20986	0.625	0.54753	D	0.999982	D;P;P	0.69078	0.997;0.591;0.951	P;P;P	0.60886	0.88;0.46;0.708	T	0.25916	-1.0118	10	0.34782	T	0.22	-2.1089	11.7457	0.51819	0.1319:0.0:0.0:0.8681	.	56;56;56	E9PLP3;A8DPS6;P68402	.;.;PA1B2_HUMAN	D	56	ENSP00000435289:Y56D;ENSP00000388742:Y56D;ENSP00000431365:Y56D	ENSP00000388742:Y56D	Y	+	1	0	PAFAH1B2	116535944	0.957000	0.32711	0.994000	0.49952	0.965000	0.64279	3.898000	0.56281	2.184000	0.69523	0.455000	0.32223	TAT	.		0.408	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		G	117030734	T	G	117030734	3	3	24	1	0	0	0	0	1	0	0	0	11424	1406	49	4	172	4	PAFAH1B2	11	117030734	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2909490	117030734	17975782	582	3729											
MLL	4297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118365076	118365076	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:118365076A>T	ENST00000389506.5	+	17	5243	c.5243A>T	c.(5242-5244)aAa>aTa	p.K1748I	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1751I|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1710I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1748	Bromo; divergent. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)										CCAGAAATTAAAAAAGCCAAC	0.333																																					p.K1751I		.											.	.	.	0			c.A5252T						.						120	106	110					11																	118365076		2200	4296	6496	SO:0001583	missense	4297	exon17			AAATTAAAAAAGC	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.5243A>T	11.37:g.118365076A>T	ENSP00000374157:p.Lys1748Ile	61	0		30	18	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569952	0.65765	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.40476	1.03;1.03;1.03	6.07	6.07	0.98685	Bromodomain (4);	0.046649	0.85682	D	0.000000	T	0.48572	0.1507	N	0.14661	0.345	0.58432	D	0.999998	D;D	0.71674	0.997;0.998	D;D	0.68943	0.961;0.915	T	0.55879	-0.8071	10	0.72032	D	0.01	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1751;1748	E9PQG7;Q03164	.;MLL1_HUMAN	I	1751;1748;1710;658	ENSP00000436786:K1751I;ENSP00000374157:K1748I;ENSP00000346516:K1710I	ENSP00000346516:K1710I	K	+	2	0	MLL	117870286	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.679000	0.74513	2.326000	0.78906	0.533000	0.62120	AAA	.		0.333	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118365076	A	T	118365076	3	4	24	1	0	0	0	0	1	0	0	0	9658	14	1	5	5309	5	MLL	11	118365076	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1334342	118365076	16641440	583	3730											
C2CD2L	9854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118983266	118983266	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:118983266C>T	ENST00000528586.1	+	5	473	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	C2CD2L_ENST00000336702.3_Missense_Mutation_p.L387F			O14523	C2C2L_HUMAN	C2CD2-like	387						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GTTGTGCCCACTCACCCCAGG	0.652																																					p.L387F		.											.	.	.	0			c.C1159T						.						45	47	47					11																	118983266		2200	4295	6495	SO:0001583	missense	9854	exon9			TGCCCACTCACCC	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.403C>T	11.37:g.118983266C>T	ENSP00000433600:p.Leu135Phe	33	0		13	7	NM_014807	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.140784	0.77775	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.59224	0.28;0.28	5.32	5.32	0.75619	C2 calcium/lipid-binding domain, CaLB (1);	0.060697	0.64402	D	0.000003	T	0.66396	0.2785	L	0.32530	0.975	0.52501	D	0.999952	D;D	0.67145	0.996;0.996	D;D	0.63793	0.918;0.918	T	0.68938	-0.5277	10	0.87932	D	0	-4.6111	18.1628	0.89714	0.0:1.0:0.0:0.0	.	387;387	O14523;O14523-2	C2C2L_HUMAN;.	F	387;135	ENSP00000338885:L387F;ENSP00000433600:L135F	ENSP00000338885:L387F	L	+	1	0	C2CD2L	118488476	0.991000	0.36638	1.000000	0.80357	0.976000	0.68499	2.468000	0.45102	2.778000	0.95560	0.655000	0.94253	CTC	.		0.652	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		T	118983266	C	T	118983266	3	4	24	1	0	0	0	0	1	0	0	0	2160	565	20	3	1193	3	C2CD2L	11	118983266	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	618190	118983266	16023250	584	3731											
NLRX1	79671	broad.mit.edu;bcgsc.ca	37	11	119050924	119050924	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:119050924T>G	ENST00000409109.1	+	7	2781	c.2194T>G	c.(2194-2196)Ttg>Gtg	p.L732V	NLRX1_ENST00000525863.1_Missense_Mutation_p.L732V|NLRX1_ENST00000292199.2_Missense_Mutation_p.L732V|NLRX1_ENST00000409991.1_Missense_Mutation_p.L732V|NLRX1_ENST00000409265.4_Missense_Mutation_p.L732V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	732	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)		TGAGGTGAACTTGGCCTCCTG	0.627																																					p.L732V													.	NLRX1	128	0			c.T2194G						.						49	46	47					11																	119050924		2200	4295	6495	SO:0001583	missense	79671	exon7			GTGAACTTGGCCT	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.2194T>G	11.37:g.119050924T>G	ENSP00000387334:p.Leu732Val	21	0		8	3	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452222	0.43531	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.17	2.89	0.33648	.	0.087215	0.45867	D	0.000328	T	0.63792	0.2541	L	0.32530	0.975	0.39671	D	0.97075	P;P	0.38827	0.649;0.598	B;B	0.42495	0.359;0.389	T	0.67764	-0.5586	10	0.87932	D	0	.	6.5796	0.22585	0.0:0.2238:0.0:0.7762	.	732;732	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	V	732	ENSP00000386851:L732V;ENSP00000292199:L732V;ENSP00000386858:L732V;ENSP00000387334:L732V;ENSP00000433442:L732V	ENSP00000292199:L732V	L	+	1	2	NLRX1	118556134	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	2.681000	0.46926	1.958000	0.56883	0.260000	0.18958	TTG	.		0.627	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		G	119050924	T	G	119050924	3	3	24	1	0	0	0	0	1	0	0	0	10524	1606	56	4	2216	4	NLRX1	11	119050924	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	67658	119050924	15955592	585	3732											
USP2	9099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	119243852	119243852	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:119243852G>A	ENST00000260187.2	-	2	633	c.339C>T	c.(337-339)ttC>ttT	p.F113F	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	113	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)		CTCCATAAGGGAATCCGCTGC	0.612																																					p.F113F		.											.	.	.	0			c.C339T						.						88	97	94					11																	119243852		2199	4295	6494	SO:0001819	synonymous_variant	9099	exon2			ATAAGGGAATCCG	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.339C>T	11.37:g.119243852G>A		36	0		18	8	NM_004205	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	CCDS8422.1																																																																																			.		0.612	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		A	119243852	G	A	119243852	2	1	24	1	0	0	0	0	0	0	0	1	17100	1165	41	3		3	USP2	11	119243852	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	192928	119243852	15762664	586	3733											
TBCEL	219899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	120957511	120957511	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:120957511T>C	ENST00000529397.1	+	8	1081	c.981T>C	c.(979-981)taT>taC	p.Y327Y	TBCEL_ENST00000422003.2_Silent_p.Y327Y	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	327						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCACTAAATATGGGAAGTTGG	0.423																																					p.Y327Y		.											.	.	.	0			c.T981C						.						81	75	77					11																	120957511		2203	4299	6502	SO:0001819	synonymous_variant	219899	exon8			TAAATATGGGAAG	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.981T>C	11.37:g.120957511T>C		55	0		36	5	NM_001130047	Q0VAN6	Silent	SNP	ENST00000529397.1	37	CCDS31692.1																																																																																			.		0.423	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		C	120957511	T	C	120957511	2	2	24	1	0	0	0	0	0	0	0	1	15682	1471	51	4		4	TBCEL	11	120957511	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1713659	120957511	14049005	587	3734											
HSPA8	3312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	122931947	122931947	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:122931947A>C	ENST00000532636.1	-	2	205	c.86T>G	c.(85-87)aTt>aGt	p.I29S	HSPA8_ENST00000453788.2_Missense_Mutation_p.I29S|HSPA8_ENST00000526110.1_Missense_Mutation_p.I29S|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.I29S|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.I29S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.I29S			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	29					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)		ATCATTGGCAATTATCTCGAC	0.473																																					p.I29S	Colon(21;486 594 5900 6733 14272)	.											.	.	.	0			c.T86G						.						88	74	79					11																	122931947		2202	4299	6501	SO:0001583	missense	3312	exon2			TTGGCAATTATCT	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.86T>G	11.37:g.122931947A>C	ENSP00000437125:p.Ile29Ser	33	0		21	13	NM_006597	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677962	0.88445	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04758	4.78;4.78;4.78;4.78;4.78;4.78;3.56;4.78;4.78;4.78;4.78;4.78;4.78	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	H	0.99985	5.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;0.997;0.988	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.998;0.999	T	0.74179	-0.3749	10	0.87932	D	0	-25.6586	13.9807	0.64304	1.0:0.0:0.0:0.0	.	29;29;29;29;29	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	S	29	ENSP00000437125:I29S;ENSP00000437189:I29S;ENSP00000432083:I29S;ENSP00000404372:I29S;ENSP00000227378:I29S;ENSP00000433584:I29S;ENSP00000436762:I29S;ENSP00000435154:I29S;ENSP00000431641:I29S;ENSP00000436183:I29S;ENSP00000434415:I29S;ENSP00000434565:I29S;ENSP00000434851:I29S	ENSP00000227378:I29S	I	-	2	0	HSPA8	122437157	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	1.748000	0.51833	0.397000	0.26171	ATT	.		0.473	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			C	122931947	A	C	122931947	3	2	24	1	0	0	0	0	1	0	0	0	7443	101	4	4	1886	4	HSPA8	11	122931947	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1974436	122931947	12074569	588	3735											
IGSF9B	22997	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	133802005	133802005	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr11:133802005G>A	ENST00000321016.8	-	8	1301	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	IGSF9B_ENST00000533871.2_Silent_p.V357V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	357	Ig-like 4.				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)		TGTTCCACTTGACCACGGTGG	0.612																																					p.V357V		.											.	.	.	0			c.C1071T						.						66	82	77					11																	133802005		2149	4239	6388	SO:0001819	synonymous_variant	22997	exon8			CCACTTGACCACG	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.1071C>T	11.37:g.133802005G>A		39	0		20	11	NM_014987	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																				.		0.612	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133802005	G	A	133802005	2	1	24	1	0	0	0	0	0	0	0	1	7633	1277	45	3		3	IGSF9B	11	133802005	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	10870058	133802005	1204511	589	3736											
C1S	716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	7177759	7177759	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:7177759G>A	ENST00000406697.1	+	15	2499	c.1871G>A	c.(1870-1872)gGc>gAc	p.G624D	C1S_ENST00000402681.3_Missense_Mutation_p.G457D|C1S_ENST00000360817.5_Missense_Mutation_p.G624D|C1S_ENST00000328916.3_Missense_Mutation_p.G624D			P09871	C1S_HUMAN	complement component 1, s subcomponent	624	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	GGAGAGAAGGGCATGGATAGC	0.512																																					p.G624D	GBM(156;750 1943 12971 24779 31015)	.											.	.	.	0			c.G1871A						.						132	135	134					12																	7177759		2203	4300	6503	SO:0001583	missense	716	exon12			AGAAGGGCATGGA		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.1871G>A	12.37:g.7177759G>A	ENSP00000385035:p.Gly624Asp	94	0		46	27	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342991	0.61073	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.01	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000563	D	0.84460	0.5477	L	0.48174	1.505	0.45318	D	0.998316	D	0.69078	0.997	D	0.66716	0.946	D	0.85467	0.1170	10	0.87932	D	0	.	11.3954	0.49838	0.088:0.0:0.912:0.0	.	624	P09871	C1S_HUMAN	D	624;624;624;618;457	ENSP00000385035:G624D;ENSP00000328173:G624D;ENSP00000354057:G624D;ENSP00000384171:G457D	ENSP00000328173:G624D	G	+	2	0	C1S	7048020	1.000000	0.71417	0.031000	0.17742	0.543000	0.35085	5.439000	0.66556	1.332000	0.45431	0.561000	0.74099	GGC	.		0.512	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		A	7177759	G	A	7177759	3	1	24	1	0	0	0	0	1	0	0	0	1981	1203	42	3	1913	3	C1S	12	7177759	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09		7177759	126674136	590	3737											
A2M	2	broad.mit.edu	37	12	9264989	9264989	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:9264989G>T	ENST00000318602.7	-	3	721	c.414C>A	c.(412-414)taC>taA	p.Y138*		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	138					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)	GCCCTGGTTTGTAGATTGATT	0.448																																					p.Y138X													.	A2M	180	0			c.C414A						.						99	93	95					12																	9264989		1933	4158	6091	SO:0001587	stop_gained	2	exon3			TGGTTTGTAGATT	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.414C>A	12.37:g.9264989G>T	ENSP00000323929:p.Tyr138*	91	0		61	3	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Nonsense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472401	0.63737	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	.	.	.	5.53	2.73	0.32206	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5016	0.27522	0.2678:0.0:0.7322:0.0	.	.	.	.	X	138;153;138	.	ENSP00000323929:Y138X	Y	-	3	2	A2M	9156256	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	1.326000	0.33735	0.308000	0.22923	0.650000	0.86243	TAC	.		0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9264989	G	T	9264989	4	4	24	1	0	0	0	0	0	1	0	0	4	1372	48	3	4146	3	A2M	12	9264989	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2087230	9264989	124586906	591	3738											
TAS2R9	50835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	10962375	10962375	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:10962375A>C	ENST00000240691.2	-	1	392	c.300T>G	c.(298-300)acT>acG	p.T100T	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	100					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						TGAGGCAAGAAGTAAACCAGA	0.398																																					p.T100T		.											.	.	.	0			c.T300G						.						91	90	90					12																	10962375		2203	4300	6503	SO:0001819	synonymous_variant	50835	exon1			GCAAGAAGTAAAC	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.300T>G	12.37:g.10962375A>C		72	0		56	17	NM_023917	Q502V7|Q50KT0|Q50KT1|Q645W9	Silent	SNP	ENST00000240691.2	37	CCDS8633.1																																																																																			.		0.398	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			C	10962375	A	C	10962375	2	2	24	1	0	0	0	0	0	0	0	1	15635	59	3	4		4	TAS2R9	12	10962375	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1697386	10962375	122889520	592	3739											
TAS2R9	50835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	10962389	10962389	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:10962389T>G	ENST00000240691.2	-	1	378	c.286A>C	c.(286-288)Agt>Cgt	p.S96R	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	96					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						AACCAGAGACTTGAATTATTG	0.388																																					p.S96R		.											.	.	.	0			c.A286C						.						98	95	96					12																	10962389		2203	4300	6503	SO:0001583	missense	50835	exon1			AGAGACTTGAATT	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.286A>C	12.37:g.10962389T>G	ENSP00000240691:p.Ser96Arg	66	0		54	19	NM_023917	Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.979958	0.53827	.	.	ENSG00000121381	ENST00000240691	T	0.55588	0.51	3.86	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.081973	0.45606	U	0.000359	T	0.75369	0.3840	M	0.93550	3.43	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.66646	-0.5871	10	0.87932	D	0	.	8.5848	0.33651	0.0:0.0:0.1951:0.8049	.	96	Q9NYW1	TA2R9_HUMAN	R	96	ENSP00000240691:S96R	ENSP00000240691:S96R	S	-	1	0	TAS2R9	10853656	0.003000	0.15002	0.001000	0.08648	0.289000	0.27227	1.440000	0.35024	0.617000	0.30160	0.473000	0.43528	AGT	.		0.388	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			G	10962389	T	G	10962389	3	3	24	1	0	0	0	0	1	0	0	0	15635	1609	56	4	656	4	TAS2R9	12	10962389	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	14	10962389	122889506	593	3740											
LRP6	4040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	12279634	12279634	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:12279634A>T	ENST00000261349.4	-	20	4379	c.4303T>A	c.(4303-4305)Tct>Act	p.S1435T	LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1390T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1435					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)				CCTGGAAGAGATCCTGACAAA	0.448																																					p.S1435T		.											.	.	.	0			c.T4303A						.						142	118	126					12																	12279634		2203	4300	6503	SO:0001583	missense	4040	exon20			GAAGAGATCCTGA	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.4303T>A	12.37:g.12279634A>T	ENSP00000261349:p.Ser1435Thr	76	0		34	14	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896002	0.52121	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.54071	0.59;0.59	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000009	T	0.57975	0.2090	L	0.27053	0.805	0.80722	D	1	D;B	0.56035	0.974;0.004	D;B	0.70487	0.969;0.01	T	0.51834	-0.8655	10	0.13470	T	0.59	.	15.96	0.79923	1.0:0.0:0.0:0.0	.	1390;1435	F5H7J9;O75581	.;LRP6_HUMAN	T	1435;1390	ENSP00000261349:S1435T;ENSP00000442472:S1390T	ENSP00000261349:S1435T	S	-	1	0	LRP6	12170901	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	8.907000	0.92634	2.165000	0.68154	0.460000	0.39030	TCT	.		0.448	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12279634	A	T	12279634	3	4	24	1	0	0	0	0	1	0	0	0	8997	333	12	5	554	5	LRP6	12	12279634	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1317245	12279634	121572261	594	3741											
LRP6	4040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	12279840	12279840	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:12279840G>A	ENST00000261349.4	-	20	4173	c.4097C>T	c.(4096-4098)cCa>cTa	p.P1366L	LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.P1321L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1366					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)				CTGTGGTGCTGGTTCTTCAGT	0.378																																					p.P1366L		.											.	.	.	0			c.C4097T						.						85	81	82					12																	12279840		2203	4300	6503	SO:0001583	missense	4040	exon20			GGTGCTGGTTCTT	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.4097C>T	12.37:g.12279840G>A	ENSP00000261349:p.Pro1366Leu	95	0		64	23	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555892	0.86231	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.94417	-3.31;-3.42	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000009	D	0.96485	0.8853	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	D	0.94497	0.7706	10	0.23891	T	0.37	.	20.1368	0.98032	0.0:0.0:1.0:0.0	.	1321;1366	F5H7J9;O75581	.;LRP6_HUMAN	L	1366;1321	ENSP00000261349:P1366L;ENSP00000442472:P1321L	ENSP00000261349:P1366L	P	-	2	0	LRP6	12171107	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.277000	0.78572	2.751000	0.94390	0.563000	0.77884	CCA	.		0.378	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			A	12279840	G	A	12279840	3	1	24	1	0	0	0	0	1	0	0	0	8997	1348	47	3	760	3	LRP6	12	12279840	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	206	12279840	121572055	595	3742											
LRP6	4040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	12291295	12291295	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:12291295T>C	ENST00000261349.4	-	16	3647	c.3571A>G	c.(3571-3573)Att>Gtt	p.I1191V	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.I1191V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1191	Beta-propeller 4.				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)				ACTGCATGAATGTCACTAAGC	0.363																																					p.I1191V		.											.	.	.	0			c.A3571G						.						232	209	216					12																	12291295		2203	4300	6503	SO:0001583	missense	4040	exon16			CATGAATGTCACT	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.3571A>G	12.37:g.12291295T>C	ENSP00000261349:p.Ile1191Val	60	0		34	18	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610558	0.66558	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91180	-2.8;-2.8	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000008	D	0.94238	0.8150	M	0.70787	2.145	0.80722	D	1	P;B	0.42785	0.79;0.403	P;B	0.62560	0.904;0.175	D	0.92445	0.5965	10	0.22109	T	0.4	.	16.0271	0.80551	0.0:0.0:0.0:1.0	.	1191;1191	F5H7J9;O75581	.;LRP6_HUMAN	V	1191	ENSP00000261349:I1191V;ENSP00000442472:I1191V	ENSP00000261349:I1191V	I	-	1	0	LRP6	12182562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.188000	0.69820	0.482000	0.46254	ATT	.		0.363	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			C	12291295	T	C	12291295	3	2	24	1	0	0	0	0	1	0	0	0	8997	1464	51	4	1302	4	LRP6	12	12291295	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	11455	12291295	121560600	596	3743											
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	26816634	26816634	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:26816634T>A	ENST00000381340.3	-	15	2113	c.1697A>T	c.(1696-1698)gAt>gTt	p.D566V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	566					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)	TTTCCGGTAATCCTGCTGCGA	0.463																																					p.D566V		.											.	.	.	0			c.A1697T						.						234	236	235					12																	26816634		1866	4103	5969	SO:0001583	missense	3709	exon15			CGGTAATCCTGCT	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.1697A>T	12.37:g.26816634T>A	ENSP00000370744:p.Asp566Val	100	0		46	20	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846275	0.71603	.	.	ENSG00000123104	ENST00000381340	D	0.90788	-2.73	4.57	4.57	0.56435	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.95341	0.8488	M	0.84683	2.71	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.95884	0.8901	10	0.66056	D	0.02	.	14.4356	0.67279	0.0:0.0:0.0:1.0	.	566	Q14571	ITPR2_HUMAN	V	566	ENSP00000370744:D566V	ENSP00000370744:D566V	D	-	2	0	ITPR2	26707901	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.114000	0.71560	2.058000	0.61347	0.533000	0.62120	GAT	.		0.463	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26816634	T	A	26816634	3	1	24	1	0	0	0	0	1	0	0	0	7948	1435	50	5	6580	5	ITPR2	12	26816634	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	14525339	26816634	107035261	597	3744											
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	29639246	29639246	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:29639246A>C	ENST00000318184.5	-	8	927	c.928T>G	c.(928-930)Tca>Gca	p.S310A	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	310	CUB 1. {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)					ATATACCTTGAGCCCACTTTT	0.408																																					p.S310A		.											.	.	.	0			c.T928G						.						87	83	84					12																	29639246		1827	4089	5916	SO:0001583	missense	341350	exon8			ACCTTGAGCCCAC	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.928T>G	12.37:g.29639246A>C	ENSP00000326708:p.Ser310Ala	215	0		133	58	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	a	0.013	-1.620826	0.00820	.	.	ENSG00000187950	ENST00000318184	D	0.86097	-2.07	1.94	-1.1	0.09872	.	.	.	.	.	T	0.62913	0.2467	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47209	-0.9135	9	0.17369	T	0.5	.	2.2077	0.03940	0.3232:0.0:0.4319:0.2449	.	310	Q7RTY7	OVCH1_HUMAN	A	310	ENSP00000326708:S310A	ENSP00000326708:S310A	S	-	1	0	OVCH1	29530513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.065000	0.11617	-0.361000	0.08125	-2.513000	0.00187	TCA	.		0.408	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		C	29639246	A	C	29639246	3	2	24	1	0	0	0	0	1	0	0	0	11362	304	11	4	2560	4	OVCH1	12	29639246	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2822612	29639246	104212649	598	3745											
DDX11	1663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	31256769	31256769	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:31256769G>A	ENST00000407793.2	+	27	2966	c.2715G>A	c.(2713-2715)ctG>ctA	p.L905L	DDX11_ENST00000545668.1_Silent_p.L905L|DDX11_ENST00000542838.1_Silent_p.*907*|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.*857*|DDX11_ENST00000228264.6_Silent_p.*881*	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	905					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)					GCCTCTTCCTGATGGGCAACC	0.582										Multiple Myeloma(12;0.14)																											p.X907X		.											.	.	.	0			c.G2720A						.						87	90	89					12																	31256769		2203	4299	6502	SO:0001819	synonymous_variant	1663	exon27			CTTCCTGATGGGC	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.2715G>A	12.37:g.31256769G>A		65	0		48	25	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																			.		0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31256769	G	A	31256769	2	1	24	1	0	0	0	0	0	0	0	1	4352	1285	45	3		3	DDX11	12	31256769	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1617523	31256769	102595126	599	3746											
RAPGEF3	10411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	48131422	48131422	+	Silent	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:48131422A>T	ENST00000449771.2	-	28	2788	c.2700T>A	c.(2698-2700)gcT>gcA	p.A900A	RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Silent_p.A791A|RAPGEF3_ENST00000389212.3_Silent_p.A900A|RAPGEF3_ENST00000405493.2_Silent_p.A858A|RAPGEF3_ENST00000549151.1_Silent_p.A858A|RAPGEF3_ENST00000171000.4_Silent_p.A858A			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	900					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)		GCTGGACATAAGCCCAGGTGC	0.632																																					p.A900A		.											.	.	.	0			c.T2700A						.						55	51	53					12																	48131422		2203	4300	6503	SO:0001819	synonymous_variant	10411	exon28			GACATAAGCCCAG	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.2700T>A	12.37:g.48131422A>T		50	0		43	16	NM_001098531	A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	37	CCDS41775.1																																																																																			.		0.632	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		T	48131422	A	T	48131422	2	4	24	1	0	0	0	0	0	0	0	1	13090	59	3	5		5	RAPGEF3	12	48131422	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	16874653	48131422	85720473	600	3747											
PFKM	29843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	48501972	48501972	+	5'Flank	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:48501972A>C	ENST00000004980.5	-	0	0				PFKM_ENST00000340802.6_Missense_Mutation_p.K67T|SENP1_ENST00000339976.6_5'Flank|SENP1_ENST00000551330.1_5'Flank|SENP1_ENST00000448372.1_5'Flank|SENP1_ENST00000549518.1_5'Flank			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1						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)				CCTGTTTTCAAAACTGGTGAG	0.418																																					p.K67T		.											.	.	.	0			c.A200C						.						171	149	155					12																	48501972		1568	3582	5150	SO:0001631	upstream_gene_variant	5213	exon3			TTTTCAAAACTGG	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		12.37:g.48501972A>C	Exception_encountered	61	0		44	17	NM_001166686	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515563	0.44763	.	.	ENSG00000152556	ENST00000550257;ENST00000340802;ENST00000546755;ENST00000549366;ENST00000552792;ENST00000548288	D;T;D;D;D	0.86562	-2.12;-1.42;-2.14;-2.13;-2.13	4.05	-1.54	0.08584	.	1.145590	0.06408	N	0.719985	T	0.75613	0.3873	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56751	-0.7927	10	0.18276	T	0.48	0.0324	11.8501	0.52407	0.3451:0.6549:0.0:0.0	.	67	Q6ZTT1	.	T	70;67;67;67;67;67	ENSP00000447997:K70T;ENSP00000345771:K67T;ENSP00000449622:K67T;ENSP00000448940:K67T;ENSP00000448018:K67T	ENSP00000345771:K67T	K	+	2	0	PFKM	46788239	0.002000	0.14202	0.001000	0.08648	0.200000	0.23975	0.194000	0.17135	-0.238000	0.09724	-0.466000	0.05196	AAA	.		0.418	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		C	48501972	A	C	48501972	1	2	24	0	1	0	0	0	0	0	0	0	11804	14	1	4		4	PFKM	12	48501972	5'Flank	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	370550	48501972	85349923	601	3748											
DHH	50846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	49483683	49483683	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:49483683A>G	ENST00000266991.2	-	3	1456	c.1150T>C	c.(1150-1152)Tct>Cct	p.S384P	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	384					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						AGGAGCCGAGAGTACCAATGC	0.667																																					p.S384P		.											.	.	.	0			c.T1150C						.						10	12	12					12																	49483683		2199	4294	6493	SO:0001583	missense	50846	exon3			GCCGAGAGTACCA	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.1150T>C	12.37:g.49483683A>G	ENSP00000266991:p.Ser384Pro	51	0		28	13	NM_021044	Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	a	13.24	2.177513	0.38413	.	.	ENSG00000139549	ENST00000266991	D	0.99422	-5.88	4.77	4.77	0.60923	Peptidase C46, hedgehog protein, hint region (1);	0.200343	0.42420	D	0.000710	D	0.98679	0.9557	L	0.28458	0.855	0.35720	D	0.817089	D	0.65815	0.995	P	0.60345	0.873	D	0.99947	1.1485	10	0.27785	T	0.31	-15.8194	13.7159	0.62695	1.0:0.0:0.0:0.0	.	384	O43323	DHH_HUMAN	P	384	ENSP00000266991:S384P	ENSP00000266991:S384P	S	-	1	0	DHH	47769950	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.902000	0.69869	2.144000	0.66660	0.454000	0.30748	TCT	.		0.667	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		G	49483683	A	G	49483683	3	3	24	1	0	0	0	0	1	0	0	0	4497	304	11	4	44	4	DHH	12	49483683	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	981711	49483683	84368212	602	3749											
LARP4	113251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	50855117	50855117	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:50855117T>C	ENST00000398473.2	+	11	1433	c.1321T>C	c.(1321-1323)Tat>Cat	p.Y441H	LARP4_ENST00000293618.8_Intron|LARP4_ENST00000522085.1_Missense_Mutation_p.Y441H|LARP4_ENST00000429001.3_Missense_Mutation_p.Y447H|LARP4_ENST00000347328.5_Missense_Mutation_p.Y370H|LARP4_ENST00000518444.1_Missense_Mutation_p.Y440H|LARP4_ENST00000518561.1_Missense_Mutation_p.Y371H	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	441					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAATGGGGACTATGGTAGGGG	0.403																																					p.Y441H		.											.	.	.	0			c.T1321C						.						74	69	71					12																	50855117		1849	4094	5943	SO:0001583	missense	113251	exon11			GGGGACTATGGTA	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1321T>C	12.37:g.50855117T>C	ENSP00000381490:p.Tyr441His	56	0		34	15	NM_001170804	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068415	0.55539	.	.	ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T	0.45276	1.57;1.57;0.91;1.57;0.9;1.57	4.37	4.37	0.52481	.	1.366970	0.04449	N	0.372274	T	0.54319	0.1851	L	0.47716	1.5	0.80722	D	1	D;P;P;P;P	0.57571	0.98;0.759;0.891;0.895;0.923	P;P;P;P;P	0.56700	0.804;0.579;0.549;0.526;0.521	T	0.31888	-0.9927	10	0.42905	T	0.14	.	10.4443	0.44483	0.0:0.0:0.1636:0.8364	.	342;440;370;441;447	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	H	447;441;441;440;371;342;370	ENSP00000415464:Y447H;ENSP00000381490:Y441H;ENSP00000429781:Y441H;ENSP00000429077:Y440H;ENSP00000430851:Y371H;ENSP00000340901:Y370H	ENSP00000340901:Y370H	Y	+	1	0	LARP4	49141384	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.865000	0.39479	1.914000	0.55421	0.379000	0.24179	TAT	.		0.403	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		C	50855117	T	C	50855117	3	2	24	1	0	0	0	0	1	0	0	0	8658	1522	53	4	1363	4	LARP4	12	50855117	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1371434	50855117	82996778	603	3750											
ACVR1B	91	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	52377793	52377793	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:52377793C>A	ENST00000257963.4	+	5	899	c.822C>A	c.(820-822)acC>acA	p.T274T	ACVR1B_ENST00000542485.1_Silent_p.T222T|ACVR1B_ENST00000426655.2_Silent_p.T274T|ACVR1B_ENST00000541224.1_Silent_p.T315T|ACVR1B_ENST00000415850.2_Silent_p.T274T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ATAATGGCACCTGGACACAGC	0.443																																					p.T315T		.											.	.	.	0			c.C945A						.						104	88	94					12																	52377793		2203	4300	6503	SO:0001819	synonymous_variant	91	exon6			TGGCACCTGGACA		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.822C>A	12.37:g.52377793C>A		53	0		42	22	NM_020328	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	ENST00000257963.4	37	CCDS8816.1																																																																																			.		0.443	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		A	52377793	C	A	52377793	2	1	24	1	0	0	0	0	0	0	0	1	221	668	24	3		3	ACVR1B	12	52377793	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1522676	52377793	81474102	604	3751											
KRT85	3891	bcgsc.ca	37	12	52757179	52757180	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:52757179_52757180GG>TT	ENST00000257901.3	-	5	876_877	c.801_802CC>AA	c.(799-804)ctCCaa>ctAAaa	p.Q268K	KRT85_ENST00000544265.1_Missense_Mutation_p.Q56K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	268	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGTGGGCTTGGAGAACGCGGA	0.554																																					p.Q268K													KRT85,NS,carcinoma,-2,1	KRT85	78	0			c.C801A						.																																			SO:0001583	missense	3891	exon5			GGCTTGGAGAACG	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.801_802delinsTT	12.37:g.52757179_52757180delinsTT	ENSP00000257901:p.Gln268Lys	35	1		20	12	NM_002283	Q9NSB1	Missense_Mutation	DNP	ENST00000257901.3	37	CCDS8824.1																																																																																			.		0.554	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		TT	52757180	GG	TT	52757179	3	4	24	1	0	0	0	0	1	0	0	0	8526	1357	47	3	741	3	KRT85	12	52757179	Missense_Mutation	DNP	GG	TCGA-W5-AA39-01A-11D-A417-09	379386	52757179	81094716	605	3752											
RARG	5916	broad.mit.edu	37	12	53607314	53607314	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:53607314T>A	ENST00000425354.2	-	8	1471	c.984A>T	c.(982-984)acA>acT	p.T328T	RARG_ENST00000543726.1_Silent_p.T306T|RARG_ENST00000327550.3_Silent_p.T256T|RARG_ENST00000394426.1_Silent_p.T328T|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Silent_p.T317T	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	328	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|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)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGAGCAGCCCTGTCTCGGTGT	0.642											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T328T													.	RARG	53	0			c.A984T						.						45	44	44					12																	53607314		2203	4300	6503	SO:0001819	synonymous_variant	5916	exon8			CAGCCCTGTCTCG	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.984A>T	12.37:g.53607314T>A		21	0	993	12	3	NM_000966	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	CCDS8850.1																																																																																			.		0.642	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		A	53607314	T	A	53607314	2	1	24	1	0	0	0	0	0	0	0	1	13099	1567	55	5		5	RARG	12	53607314	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	850135	53607314	80244581	606	3753											
ESPL1	9700	ucsc.edu	37	12	53677189	53677189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:53677189C>T	ENST00000257934.4	+	16	3035	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q982*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	982					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						ACAAAAATGGCAGGTTCTTTC	0.537																																					p.Q982X	Colon(53;1069 1201 2587 5382)												.	ESPL1	158	0			c.C2944T						.						96	101	99					12																	53677189		2203	4300	6503	SO:0001587	stop_gained	9700	exon16			AAATGGCAGGTTC	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.2944C>T	12.37:g.53677189C>T	ENSP00000257934:p.Gln982*	61	1		31	4	NM_012291		Nonsense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	41	8.929351	0.99006	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.12	5.12	0.69794	.	0.056851	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.4979	0.87723	0.0:1.0:0.0:0.0	.	.	.	.	X	982;657;982	.	ENSP00000257934:Q982X	Q	+	1	0	ESPL1	51963456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.129000	0.64739	2.667000	0.90743	0.655000	0.94253	CAG	.		0.537	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53677189	C	T	53677189	4	4	24	1	0	0	0	0	0	1	0	0	5269	711	25	3	3002	3	ESPL1	12	53677189	Nonsense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	69875	53677189	80174706	607	3754											
DNAJC14	85406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	56215774	56215774	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:56215774G>A	ENST00000357606.3	-	8	2385	c.2096C>T	c.(2095-2097)cCc>cTc	p.P699L	RP11-762I7.5_ENST00000546837.1_Intron|DNAJC14_ENST00000317269.3_Missense_Mutation_p.P699L|RP11-762I7.5_ENST00000552719.1_Intron|DNAJC14_ENST00000317287.5_Missense_Mutation_p.P699L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	699					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						ACGTTGGAAGGGCCTCCTCAC	0.557																																					p.P699L		.											.	.	.	0			c.C2096T						.						149	138	142					12																	56215774		2203	4300	6503	SO:0001583	missense	85406	exon7			TGGAAGGGCCTCC	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.2096C>T	12.37:g.56215774G>A	ENSP00000350223:p.Pro699Leu	47	0		38	18	NM_032364	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726787	0.69074	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.66099	-0.19;-0.19;-0.19	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72683	-0.4219	10	0.87932	D	0	-11.261	17.551	0.87875	0.0:0.0:1.0:0.0	.	699	Q6Y2X3	DJC14_HUMAN	L	699;699;409;699	ENSP00000350223:P699L;ENSP00000316240:P699L;ENSP00000317500:P699L	ENSP00000316240:P699L	P	-	2	0	DNAJC14	54502041	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.707000	0.84623	2.830000	0.97506	0.585000	0.79938	CCC	.		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		A	56215774	G	A	56215774	3	1	24	1	0	0	0	0	1	0	0	0	4647	1232	43	3	16	3	DNAJC14	12	56215774	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2538585	56215774	77636121	608	3755											
CDK2	1017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	56361718	56361718	+	Splice_Site	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:56361718A>G	ENST00000266970.4	+	2	434	c.194A>G	c.(193-195)aAg>aGg	p.K65R	PMEL_ENST00000449260.2_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|CDK2_ENST00000440311.2_Intron|PMEL_ENST00000548493.1_5'Flank|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000354056.4_Splice_Site_p.K65R|PMEL_ENST00000539511.1_5'Flank|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000550447.1_5'Flank|PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000553376.1_Splice_Site_p.K65R|PMEL_ENST00000550464.1_5'Flank|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000548689.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	65	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)	AATATTGTCAAGTAAGTATGC	0.478																																					p.K65R		.											.	.	.	0			c.A194G						.						134	122	126					12																	56361718		2203	4300	6503	SO:0001630	splice_region_variant	1017	exon2			TTGTCAAGTAAGT	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.194+1A>G	12.37:g.56361718A>G		52	0		52	22	NM_052827	A8K7C6|O75100	Missense_Mutation	SNP	ENST00000266970.4	37	CCDS8898.1	.	.	.	.	.	.	.	.	.	.	A	7.362	0.624967	0.14257	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000354056	T;T;T	0.43294	0.95;0.95;0.95	5.52	5.52	0.82312	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	0.28665	0.0710	L	0.28649	0.875	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.11372	-1.0590	10	0.02654	T	1	-10.722	14.9334	0.70935	1.0:0.0:0.0:0.0	.	65;65	P24941-2;P24941	.;CDK2_HUMAN	R	65	ENSP00000266970:K65R;ENSP00000452514:K65R;ENSP00000243067:K65R	ENSP00000266970:K65R	K	+	2	0	CDK2	54647985	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.101000	0.50283	2.242000	0.73789	0.402000	0.26972	AAG	.		0.478	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1		Missense_Mutation	G	56361718	A	G	56361718	5	3	24	1	0	0	0	0	0	0	1	0	3143	86	3	4	200	4	CDK2	12	56361718	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	145944	56361718	77490177	609	3756											
SMARCC2	6601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	56578658	56578658	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:56578658C>T	ENST00000267064.4	-	5	548	c.462G>A	c.(460-462)ggG>ggA	p.G154G	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.G154G|SMARCC2_ENST00000550164.1_Silent_p.G154G|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000394023.3_Silent_p.G154G	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	154					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTTTAATTTCCCTAGTAGTT	0.403																																					p.G154G		.											.	.	.	0			c.G462A						.						157	141	146					12																	56578658		2203	4300	6503	SO:0001819	synonymous_variant	6601	exon5			TAATTTCCCTAGT	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.462G>A	12.37:g.56578658C>T		92	0		63	22	NM_139067	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	CCDS8907.1																																																																																			.		0.403	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			T	56578658	C	T	56578658	2	4	24	1	0	0	0	0	0	0	0	1	14821	842	30	3		3	SMARCC2	12	56578658	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	216940	56578658	77273237	610	3757											
STAT2	6773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	56743381	56743381	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:56743381T>A	ENST00000314128.4	-	14	1272	c.1249A>T	c.(1249-1251)Agc>Tgc	p.S417C	STAT2_ENST00000557235.1_Missense_Mutation_p.S413C|STAT2_ENST00000418572.2_Missense_Mutation_p.S413C|STAT2_ENST00000556539.1_5'UTR|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	417					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACCTTATTGCTGCCCTTTCCT	0.552																																					p.S417C		.											.	.	.	0			c.A1249T						.						136	124	128					12																	56743381		2203	4300	6503	SO:0001583	missense	6773	exon14			TATTGCTGCCCTT	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1249A>T	12.37:g.56743381T>A	ENSP00000315768:p.Ser417Cys	50	0		34	13	NM_005419	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471644	0.43942	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	D;D;D	0.87571	-2.27;-2.27;-2.27	5.16	1.16	0.20824	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.499987	0.22912	N	0.054126	T	0.76898	0.4052	L	0.32530	0.975	0.24330	N	0.995006	B;B;B	0.14805	0.009;0.011;0.004	B;B;B	0.17722	0.019;0.012;0.007	T	0.64723	-0.6340	10	0.46703	T	0.11	-0.645	5.2859	0.15700	0.2849:0.0822:0.0:0.6329	.	413;413;417	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	C	417;413;219;413	ENSP00000315768:S417C;ENSP00000450751:S413C;ENSP00000387354:S413C	ENSP00000315768:S417C	S	-	1	0	STAT2	55029648	0.682000	0.27624	0.990000	0.47175	0.964000	0.63967	0.842000	0.27627	0.356000	0.24157	0.460000	0.39030	AGC	.		0.552	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		A	56743381	T	A	56743381	3	1	24	1	0	0	0	0	1	0	0	0	15312	1580	55	5	1350	5	STAT2	12	56743381	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	164723	56743381	77108514	611	3758											
TIMELESS	8914	broad.mit.edu	37	12	56822671	56822671	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:56822671G>A	ENST00000553532.1	-	11	1450	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R433C					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						ACTCACCGGCGTGCCCAGGAG	0.512																																					p.R434C													.	TIMELESS	107	0			c.C1300T						.						92	80	84					12																	56822671		2203	4300	6503	SO:0001583	missense	8914	exon11			ACCGGCGTGCCCA	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.1300C>T	12.37:g.56822671G>A	ENSP00000450607:p.Arg434Cys	17	0		15	4	NM_003920		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902474	0.52227	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.10382	2.88;2.89	4.95	4.06	0.47325	.	0.057662	0.64402	N	0.000001	T	0.14960	0.0361	M	0.83012	2.62	0.80722	D	1	B;B	0.28026	0.198;0.125	B;B	0.21546	0.035;0.015	T	0.02132	-1.1208	10	0.48119	T	0.1	.	8.1353	0.31050	0.0851:0.0:0.7578:0.1572	.	433;434	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	C	433;434	ENSP00000229201:R433C;ENSP00000450607:R434C	ENSP00000229201:R434C	R	-	1	0	TIMELESS	55108938	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.347000	0.59373	1.217000	0.43442	0.462000	0.41574	CGC	.		0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		A	56822671	G	A	56822671	3	1	24	1	0	0	0	0	1	0	0	0	15951	1145	40	1	2402	1	TIMELESS	12	56822671	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	79290	56822671	77029224	612	3759											
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	57584755	57584755	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:57584755A>C	ENST00000243077.3	+	43	7665	c.7199A>C	c.(7198-7200)aAg>aCg	p.K2400T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2400					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)	ACCCTGGACAAGATCGAGCGG	0.642																																					p.K2400T		.											.	.	.	0			c.A7199C						.						84	67	73					12																	57584755		2203	4300	6503	SO:0001583	missense	4035	exon43			TGGACAAGATCGA	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.7199A>C	12.37:g.57584755A>C	ENSP00000243077:p.Lys2400Thr	16	0		14	7	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	a	29.5	5.009151	0.93346	.	.	ENSG00000123384	ENST00000243077	D	0.96073	-3.9	4.93	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.96228	0.8770	L	0.48877	1.53	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.95512	0.8587	10	0.37606	T	0.19	.	13.7412	0.62849	1.0:0.0:0.0:0.0	.	2400	Q07954	LRP1_HUMAN	T	2400	ENSP00000243077:K2400T	ENSP00000243077:K2400T	K	+	2	0	LRP1	55871022	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.119000	0.94362	2.070000	0.61991	0.439000	0.28862	AAG	.		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		C	57584755	A	C	57584755	3	2	24	1	0	0	0	0	1	0	0	0	8986	72	3	4	7369	4	LRP1	12	57584755	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	762084	57584755	76267140	613	3760											
NXPH4	11247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	57619423	57619423	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:57619423T>G	ENST00000349394.5	+	2	995	c.820T>G	c.(820-822)Ttc>Gtc	p.F274V	Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	274	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGCCAAGCCCTTCAAAGTCAT	0.572																																					p.F274V		.											.	.	.	0			c.T820G						.						58	65	62					12																	57619423		2203	4300	6503	SO:0001583	missense	11247	exon2			AAGCCCTTCAAAG	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.820T>G	12.37:g.57619423T>G	ENSP00000333593:p.Phe274Val	27	0		12	7	NM_007224	A8K4I4|Q7Z6L3|Q8N462	Missense_Mutation	SNP	ENST00000349394.5	37	CCDS8933.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812107	0.70797	.	.	ENSG00000182379	ENST00000349394	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	L	0.54323	1.7	0.58432	D	0.999997	D	0.71674	0.998	D	0.74023	0.982	T	0.72795	-0.4185	9	0.87932	D	0	-19.2694	12.3172	0.54964	0.0:0.0:0.0:1.0	.	274	O95158	NXPH4_HUMAN	V	274	.	ENSP00000333593:F274V	F	+	1	0	NXPH4	55905690	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	5.915000	0.69973	1.744000	0.51775	0.460000	0.39030	TTC	.		0.572	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		G	57619423	T	G	57619423	3	3	24	1	0	0	0	0	1	0	0	0	10832	1609	56	4	826	4	NXPH4	12	57619423	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	34668	57619423	76232472	614	3761											
R3HDM2	22864	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	57682695	57682711	+	Splice_Site	DEL	TGTTGGTTAACATCAAA	TGTTGGTTAACATCAAA	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	TGTTGGTTAACATCAAA	TGTTGGTTAACATCAAA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:57682695_57682711delTGTTGGTTAACATCAAA	ENST00000347140.3	-	12	1233		c.e12-2		R3HDM2_ENST00000413953.2_Intron|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000358907.2_Splice_Site|R3HDM2_ENST00000403821.2_Splice_Site|R3HDM2_ENST00000402412.1_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2							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						TTGGAGAGTCTGTTGGTTAACATCAAAGAAAAGCATC	0.364																																					.		.											.	.	.	0			.						.																																			SO:0001630	splice_region_variant	22864	.			AGAGTCTGTTGGT	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.843-2TTTGATGTTAACCAACA>-	12.37:g.57682695_57682711delTGTTGGTTAACATCAAA		90	0		44	6	.	Q2M1T9|Q3ZCT5	Splice_Site	DEL	ENST00000347140.3	37	CCDS8937.2																																																																																			.		0.364	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	Intron	-	57682711	TGTTGGTTAACATCAAA	-	57682695	8	5	24	1	0	1	0	1	0	0	1	0	12933	1594	55	0	2141	0	R3HDM2	12	57682695	Splice_Site	DEL	TGTTGGTTAACATCAAA	TCGA-W5-AA39-01A-11D-A417-09	63272	57682695	76169200	615	3762											
SRGAP1	57522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	64505656	64505656	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:64505656T>C	ENST00000355086.3	+	17	2558	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	SRGAP1_ENST00000543397.1_Silent_p.H615H|SRGAP1_ENST00000357825.3_Silent_p.H655H|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	678	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		GCCAGGCACATGTGAATGAAA	0.443																																					p.H678H		.											.	.	.	0			c.T2034C						.						164	143	150					12																	64505656		2203	4300	6503	SO:0001819	synonymous_variant	57522	exon17			GGCACATGTGAAT	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.2034T>C	12.37:g.64505656T>C		69	0		48	28	NM_020762	Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	CCDS8967.1																																																																																			.		0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64505656	T	C	64505656	2	2	24	1	0	0	0	0	0	0	0	1	15192	1461	51	4		4	SRGAP1	12	64505656	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6822961	64505656	69346239	616	3763											
MSRB3	253827	bcgsc.ca	37	12	65672596	65672601	+	In_Frame_Del	DEL	CCTCTG	CCTCTG	-	rs377713148		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CCTCTG	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:65672596_65672601delCCTCTG	ENST00000355192.3	+	1	174_179	c.48_53delCCTCTG	c.(46-54)tccctctgc>tcc	p.LC21del	RP11-305O6.3_ENST00000545709.1_RNA|MSRB3_ENST00000538725.1_3'UTR|MSRB3_ENST00000540804.1_In_Frame_Del_p.LC21del|MSRB3_ENST00000308259.5_5'UTR|MSRB3_ENST00000535664.1_5'UTR	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	21					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)		tctgcctctccctctgcctctgcctc	0.738																																					p.16_18del													MSRB3_ENST00000355192,rectum,carcinoma,+2,1	MSRB3	80	0			c.48_53del						.																																			SO:0001651	inframe_deletion	253827	exon1			CCTCTCCCTCTGC	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.48_53delCCTCTG	12.37:g.65672602_65672607delCCTCTG	ENSP00000347324:p.Leu21_Cys22del	76	0		66	3	NM_198080	B4DR19|B7ZAQ0|Q6UXS2	In_Frame_Del	DEL	ENST00000355192.3	37	CCDS8973.1																																																																																			.		0.738	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		-	65672601	CCTCTG	-	65672596	7	5	24	1	0	1	0	1	0	0	0	0	9927	610	22	0	50	0	MSRB3	12	65672596	In_Frame_Del	DEL	CCTCTG	TCGA-W5-AA39-01A-11D-A417-09	1166940	65672596	68179299	617	3764											
ZFC3H1	196441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	72057114	72057114	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:72057114A>G	ENST00000378743.3	-	1	635	c.277T>C	c.(277-279)Tct>Cct	p.S93P	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S93P|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S93P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	93	Ser-rich.				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						CCCCGCTCAGACGCGTGCCGC	0.647											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S93P		.											.	.	.	0			c.T277C						.						62	69	67					12																	72057114		1956	4137	6093	SO:0001583	missense	196441	exon1			GCTCAGACGCGTG	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.277T>C	12.37:g.72057114A>G	ENSP00000368017:p.Ser93Pro	95	0	1134	49	19	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724467	0.30593	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.33216	1.42	4.33	1.82	0.25136	.	0.417097	0.19575	N	0.111011	T	0.14056	0.0340	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.10291	-1.0636	10	0.23891	T	0.37	.	4.37	0.11242	0.4709:0.402:0.1271:0.0	.	93;93;93	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	P	93	ENSP00000368017:S93P	ENSP00000368017:S93P	S	-	1	0	ZFC3H1	70343381	0.988000	0.35896	0.938000	0.37757	0.987000	0.75469	1.478000	0.35442	0.254000	0.21573	0.454000	0.30748	TCT	.		0.647	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		G	72057114	A	G	72057114	3	3	24	1	0	0	0	0	1	0	0	0	17681	275	10	4	5832	4	ZFC3H1	12	72057114	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6384518	72057114	61794781	618	3765											
SYT1	6857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	79685872	79685872	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:79685872C>T	ENST00000261205.4	+	6	1093	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	SYT1_ENST00000393240.3_Missense_Mutation_p.L146F|SYT1_ENST00000552744.1_Missense_Mutation_p.L146F|SYT1_ENST00000457153.2_Missense_Mutation_p.L143F	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	146	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACTGGGAAAACTTCAGTATTC	0.363																																					p.L146F		.											.	.	.	0			c.C436T						.						117	128	125					12																	79685872		2203	4300	6503	SO:0001583	missense	6857	exon7			GGAAAACTTCAGT		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.436C>T	12.37:g.79685872C>T	ENSP00000261205:p.Leu146Phe	84	0		59	20	NM_001135805	Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001334	0.54254	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	5.66	5.66	0.87406	C2 calcium/lipid-binding domain, CaLB (1);	0.060292	0.64402	D	0.000004	T	0.35828	0.0945	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66602	0.945;0.945	T	0.14980	-1.0453	10	0.87932	D	0	.	14.4664	0.67488	0.1826:0.8174:0.0:0.0	.	146;146	Q6AI31;P21579	.;SYT1_HUMAN	F	146;146;143;146;143;146	ENSP00000376932:L146F;ENSP00000261205:L146F;ENSP00000391056:L143F;ENSP00000447575:L146F;ENSP00000448861:L143F;ENSP00000401559:L146F	ENSP00000261205:L146F	L	+	1	0	SYT1	78210003	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.808000	0.55598	2.665000	0.90641	0.650000	0.86243	CTT	.		0.363	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		T	79685872	C	T	79685872	3	4	24	1	0	0	0	0	1	0	0	0	15512	565	20	3	446	3	SYT1	12	79685872	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	7628758	79685872	54166023	619	3766											
GALNT4	8693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	89916734	89916734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:89916734C>T	ENST00000529983.2	-	1	1849	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000548729.1_Nonsense_Mutation_p.W528*|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Nonsense_Mutation_p.W359*|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	531	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						CTTTAAAATGCCAAATAATGT	0.428																																					p.W531X		.											.	.	.	0			c.G1593A						.						85	82	83					12																	89916734		1843	4093	5936	SO:0001587	stop_gained	8693	exon1			AAAATGCCAAATA	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.1593G>A	12.37:g.89916734C>T	ENSP00000436604:p.Trp531*	57	0		39	18	NM_003774	B2R775|B4DMX6|O00208	Nonsense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	39	7.716071	0.98450	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3377	0.94326	0.0:1.0:0.0:0.0	.	.	.	.	X	528;359;531	.	ENSP00000436604:W531X	W	-	3	0	GALNT4;RP11-1109F11.4	88440865	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.256000	0.78350	2.814000	0.96858	0.591000	0.81541	TGG	.		0.428	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89916734	C	T	89916734	4	4	24	1	0	0	0	0	0	1	0	0	6240	740	26	3	147	3	GALNT4	12	89916734	Nonsense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	10230862	89916734	43935161	620	3767											
GALNT4	8693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	89917207	89917207	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:89917207T>C	ENST00000529983.2	-	1	1376	c.1120A>G	c.(1120-1122)Aat>Gat	p.N374D	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.N371D|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.N202D|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	374					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						TGTAGGAAATTGGGGCGAGCA	0.507																																					p.N374D		.											.	.	.	0			c.A1120G						.						73	72	72					12																	89917207		1911	4134	6045	SO:0001583	missense	8693	exon1			GGAAATTGGGGCG	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.1120A>G	12.37:g.89917207T>C	ENSP00000436604:p.Asn374Asp	78	0		49	14	NM_003774	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128252	0.56721	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.59224	0.28;0.28;0.28	5.65	4.46	0.54185	.	.	.	.	.	T	0.49558	0.1564	L	0.28740	0.885	0.41908	D	0.990453	P;P	0.40970	0.734;0.615	P;B	0.44673	0.457;0.269	T	0.40924	-0.9537	9	0.30078	T	0.28	.	11.8587	0.52453	0.0:0.0:0.1465:0.8535	.	371;374	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	D	371;202;374	ENSP00000447852:N371D;ENSP00000389686:N202D;ENSP00000436604:N374D	ENSP00000436604:N374D	N	-	1	0	GALNT4;RP11-1109F11.4	88441338	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.984000	0.63838	0.918000	0.36919	0.477000	0.44152	AAT	.		0.507	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		C	89917207	T	C	89917207	3	2	24	1	0	0	0	0	1	0	0	0	6240	1812	63	4	620	4	GALNT4	12	89917207	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	473	89917207	43934688	621	3768											
APAF1	317	bcgsc.ca	37	12	99080607	99080607	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:99080607G>T	ENST00000551964.1	+	16	2996	c.2260G>T	c.(2260-2262)Gat>Tat	p.D754Y	APAF1_ENST00000549007.1_Missense_Mutation_p.D754Y|APAF1_ENST00000547045.1_Missense_Mutation_p.D754Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D743Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D743Y|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.D754Y|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D754Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	754					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATTTTCACCAGATGATAAGCT	0.318																																					p.D754Y													.	APAF1	111	0			c.G2260T						.						154	145	148					12																	99080607		2202	4300	6502	SO:0001583	missense	317	exon16			TCACCAGATGATA	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2260G>T	12.37:g.99080607G>T	ENSP00000448165:p.Asp754Tyr	61	0		45	4	NM_181868	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560399	0.65538	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.64438	1.23;1.76;4.56;-0.1;1.23;4.56;-0.1	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.187600	0.56097	D	0.000026	T	0.79028	0.4377	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.978;0.978;0.985;0.999	T	0.81504	-0.0903	10	0.87932	D	0	-3.236	10.946	0.47301	0.1188:0.0:0.8811:0.0	.	754;754;743;754;743	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	754;743;754;754;743;754;754	ENSP00000448165:D754Y;ENSP00000353059:D743Y;ENSP00000349862:D754Y;ENSP00000341830:D754Y;ENSP00000448449:D743Y;ENSP00000449791:D754Y;ENSP00000448161:D754Y	ENSP00000341830:D754Y	D	+	1	0	APAF1	97604738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.740000	0.55082	2.601000	0.87937	0.655000	0.94253	GAT	.		0.318	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		T	99080607	G	T	99080607	3	4	24	1	0	0	0	0	1	0	0	0	755	942	33	3	2318	3	APAF1	12	99080607	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	9163400	99080607	34771288	622	3769											
UTP20	27340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	101705835	101705835	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:101705835T>C	ENST00000261637.4	+	21	2507	c.2333T>C	c.(2332-2334)aTg>aCg	p.M778T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	778					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						CAGAATGATATGACAGATGAG	0.403																																					p.M778T		.											.	.	.	0			c.T2333C						.						109	114	112					12																	101705835		2203	4300	6503	SO:0001583	missense	27340	exon21			ATGATATGACAGA	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.2333T>C	12.37:g.101705835T>C	ENSP00000261637:p.Met778Thr	54	0		37	22	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	3.792	-0.043415	0.07452	.	.	ENSG00000120800	ENST00000261637	T	0.16324	2.35	5.07	-5.87	0.02297	Armadillo-type fold (1);	2.548160	0.00810	N	0.001488	T	0.04861	0.0131	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.13853	T	0.58	8.0454	7.2386	0.26084	0.2089:0.4337:0.0:0.3574	.	778	O75691	UTP20_HUMAN	T	778	ENSP00000261637:M778T	ENSP00000261637:M778T	M	+	2	0	UTP20	100229966	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.232000	0.17891	-1.060000	0.03189	-0.250000	0.11733	ATG	.		0.403	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		C	101705835	T	C	101705835	3	2	24	1	0	0	0	0	1	0	0	0	17148	1464	51	4	2415	4	UTP20	12	101705835	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2625228	101705835	32146060	623	3770											
PRDM4	11108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	108145645	108145645	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:108145645T>C	ENST00000228437.5	-	5	1132	c.673A>G	c.(673-675)Atc>Gtc	p.I225V	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	225					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						CCATTTGGGATTTGGGAATGC	0.502																																					p.I225V		.											.	.	.	0			c.A673G						.						128	110	116					12																	108145645		2203	4300	6503	SO:0001583	missense	11108	exon5			TTGGGATTTGGGA	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.673A>G	12.37:g.108145645T>C	ENSP00000228437:p.Ile225Val	44	0		23	6	NM_012406	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387315	0.42308	.	.	ENSG00000110851	ENST00000228437	T	0.09723	2.95	5.93	5.93	0.95920	.	0.244651	0.45606	D	0.000347	T	0.07954	0.0199	N	0.14661	0.345	0.35293	D	0.782354	B	0.06786	0.001	B	0.10450	0.005	T	0.12578	-1.0542	10	0.72032	D	0.01	.	12.2529	0.54608	0.0:0.0:0.1416:0.8584	.	225	Q9UKN5	PRDM4_HUMAN	V	225	ENSP00000228437:I225V	ENSP00000228437:I225V	I	-	1	0	PRDM4	106669775	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	2.882000	0.48546	2.263000	0.75096	0.533000	0.62120	ATC	.		0.502	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		C	108145645	T	C	108145645	3	2	24	1	0	0	0	0	1	0	0	0	12501	1493	52	4	1764	4	PRDM4	12	108145645	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6439810	108145645	25706250	624	3771											
TPCN1	53373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	113664590	113664590	+	5'UTR	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:113664590G>A	ENST00000335509.6	+	0	247				TPCN1_ENST00000550785.1_Missense_Mutation_p.R50K|TPCN1_ENST00000541517.1_Missense_Mutation_p.R50K	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1						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						GGCTTTGAAAGGGAGCTCAAA	0.453																																					p.R50K		.											.	.	.	0			c.G149A						.						50	48	49					12																	113664590		692	1591	2283	SO:0001623	5_prime_UTR_variant	53373	exon3			TTGAAAGGGAGCT	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.-68G>A	12.37:g.113664590G>A		29	0		33	11	NM_001143819	A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923396	0.33908	.	.	ENSG00000186815	ENST00000547275;ENST00000552985;ENST00000551096;ENST00000550785;ENST00000541517	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.72	0.434	0.16539	.	.	.	.	.	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29397	-1.0013	9	0.05833	T	0.94	.	3.4594	0.07527	0.3451:0.2016:0.4533:0.0	.	50	Q9ULQ1-3	.	K	33;64;50;50;50	ENSP00000449560:R33K;ENSP00000447569:R64K;ENSP00000447263:R50K;ENSP00000448083:R50K;ENSP00000438125:R50K	ENSP00000438125:R50K	R	+	2	0	TPCN1	112148973	0.079000	0.21365	0.040000	0.18447	0.837000	0.47467	0.098000	0.15189	0.195000	0.20347	-0.502000	0.04539	AGG	.		0.453	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		A	113664590	G	A	113664590	1	1	24	0	1	0	0	0	0	0	0	0	16443	1000	35	3		3	TPCN1	12	113664590	5'UTR	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	5518945	113664590	20187305	625	3772											
TBX3	6926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	115114210	115114210	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:115114210G>T	ENST00000257566.3	-	6	1396	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	TBX3_ENST00000349155.2_Missense_Mutation_p.S316Y	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	336					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)		GGACTCATCAGAGGTCCCATT	0.512																																					p.S336Y		.											.	.	.	0			c.C1007A						.						163	148	153					12																	115114210		2203	4300	6503	SO:0001583	missense	6926	exon6			TCATCAGAGGTCC	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.1007C>A	12.37:g.115114210G>T	ENSP00000257566:p.Ser336Tyr	52	0		30	13	NM_016569	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007725	0.75046	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89617	-2.53;-2.54	4.99	4.99	0.66335	Transcription factor, T-box, region of unknown function (1);	0.309700	0.32134	N	0.006537	D	0.93284	0.7860	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.981;0.997	D;D	0.83275	0.947;0.996	D	0.94065	0.7330	10	0.87932	D	0	.	17.2495	0.87038	0.0:0.0:1.0:0.0	.	316;336	O15119-2;O15119	.;TBX3_HUMAN	Y	316;336;336	ENSP00000257567:S316Y;ENSP00000257566:S336Y	ENSP00000257566:S336Y	S	-	2	0	TBX3	113598593	1.000000	0.71417	0.904000	0.35570	0.354000	0.29330	9.127000	0.94417	2.297000	0.77311	0.655000	0.94253	TCT	.		0.512	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		T	115114210	G	T	115114210	3	4	24	1	0	0	0	0	1	0	0	0	15706	942	33	3	1236	3	TBX3	12	115114210	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1449620	115114210	18737685	626	3773											
PSMD9	5715	broad.mit.edu	37	12	122326825	122326825	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:122326825C>T	ENST00000541212.1	+	1	189	c.63C>T	c.(61-63)agC>agT	p.S21S	RP11-87C12.2_ENST00000546333.1_Silent_p.S21S|PSMD9_ENST00000542602.1_Silent_p.S21S|PSMD9_ENST00000340175.5_Silent_p.S21S|PSMD9_ENST00000261817.2_Silent_p.S21S			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	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 insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGACTGTCAGCGACGTCCAGG	0.662											OREG0022209	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S21S													.	PSMD9	8	0			c.C63T						.						34	21	26					12																	122326825		2201	4299	6500	SO:0001819	synonymous_variant	5715	exon1			TGTCAGCGACGTC	AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.63C>T	12.37:g.122326825C>T		68	0	1518	38	3	NM_001261400	B2RD35|G3V1Q6|Q9BQ42	Silent	SNP	ENST00000541212.1	37	CCDS9225.1																																																																																			.		0.662	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401686.1	NM_002813		T	122326825	C	T	122326825	2	4	24	1	0	0	0	0	0	0	0	1	12747	767	27	1		1	PSMD9	12	122326825	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	7212615	122326825	11525070	627	3774											
ZCCHC8	55596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	122973962	122973962	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:122973962C>T	ENST00000336229.4	-	5	602	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	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	158					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)		TTTTTAATGGCACAGGACTCT	0.393																																					p.A158T		.											.	.	.	0			c.G472A						.						122	120	120					12																	122973962		1858	4107	5965	SO:0001583	missense	55596	exon5			TAATGGCACAGGA	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.472G>A	12.37:g.122973962C>T	ENSP00000337313:p.Ala158Thr	130	0		70	29	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	C	0.612	-0.824667	0.02755	.	.	ENSG00000033030	ENST00000336229	T	0.44083	0.93	5.59	0.591	0.17465	.	0.716205	0.14513	N	0.314999	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23476	-1.0187	10	0.10636	T	0.68	0.5935	3.6659	0.08255	0.3124:0.3047:0.0:0.3829	.	158	Q6NZY4	ZCHC8_HUMAN	T	158	ENSP00000337313:A158T	ENSP00000337313:A158T	A	-	1	0	ZCCHC8	121539915	0.085000	0.21516	0.001000	0.08648	0.032000	0.12392	0.355000	0.20163	0.042000	0.15717	0.305000	0.20034	GCC	.		0.393	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		T	122973962	C	T	122973962	3	4	24	1	0	0	0	0	1	0	0	0	17642	710	25	3	1691	3	ZCCHC8	12	122973962	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	647137	122973962	10877933	628	3775											
TMEM132D	121256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	129566387	129566387	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:129566387T>A	ENST00000422113.2	-	7	2166	c.1840A>T	c.(1840-1842)Atg>Ttg	p.M614L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M152L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	614					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)		TCCACCTGCATGAAGTCATTT	0.572																																					p.M614L		.											.	.	.	0			c.A1840T						.						57	54	55					12																	129566387		2203	4300	6503	SO:0001583	missense	121256	exon7			CCTGCATGAAGTC	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.1840A>T	12.37:g.129566387T>A	ENSP00000408581:p.Met614Leu	45	0		26	8	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529997	0.27387	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.12147	2.71;2.71	4.63	2.23	0.28157	.	0.187945	0.47455	D	0.000222	T	0.11452	0.0279	L	0.46157	1.445	0.34320	D	0.686447	B;B	0.06786	0.001;0.001	B;B	0.11329	0.002;0.006	T	0.18587	-1.0332	9	.	.	.	-41.1316	8.943	0.35742	0.0:0.1529:0.0:0.8471	.	614;152	Q14C87;Q14C87-2	T132D_HUMAN;.	L	152;614	ENSP00000374092:M152L;ENSP00000408581:M614L	.	M	-	1	0	TMEM132D	128132340	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	0.567000	0.23608	0.156000	0.19299	-1.144000	0.01866	ATG	.		0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129566387	T	A	129566387	3	1	24	1	0	0	0	0	1	0	0	0	16094	1464	51	5	1471	5	TMEM132D	12	129566387	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6592425	129566387	4285508	629	3776											
POLE	5426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	133202837	133202837	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:133202837C>A	ENST00000320574.5	-	46	6440	c.6397G>T	c.(6397-6399)Gtg>Ttg	p.V2133L	POLE_ENST00000535270.1_Missense_Mutation_p.V2106L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2133					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)	CCGACATCCACCAGGCGAAGC	0.602								DNA polymerases (catalytic subunits)																													p.V2133L		.											.	.	.	0			c.G6397T						.						94	73	80					12																	133202837		2203	4300	6503	SO:0001583	missense	5426	exon46			CATCCACCAGGCG		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.6397G>T	12.37:g.133202837C>A	ENSP00000322570:p.Val2133Leu	20	0		10	4	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819270	0.50633	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.22945	1.93;1.93;1.93	4.81	3.92	0.45320	.	0.062472	0.64402	D	0.000006	T	0.18173	0.0436	L	0.28458	0.855	0.46586	D	0.999111	B;B	0.16166	0.002;0.016	B;B	0.12156	0.004;0.007	T	0.04203	-1.0969	10	0.37606	T	0.19	.	10.202	0.43089	0.0:0.825:0.0:0.175	.	2133;343	Q07864;B3KS74	DPOE1_HUMAN;.	L	343;2133;2144;48;2106	ENSP00000322570:V2133L;ENSP00000406383:V2144L;ENSP00000445753:V2106L	ENSP00000322473:V48L	V	-	1	0	POLE	131712910	1.000000	0.71417	0.992000	0.48379	0.823000	0.46562	2.905000	0.48727	1.249000	0.43950	0.555000	0.69702	GTG	.		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		A	133202837	C	A	133202837	3	1	24	1	0	0	0	0	1	0	0	0	12235	507	18	3	479	3	POLE	12	133202837	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3636450	133202837	649058	630	3777											
GOLGA3	2802	hgsc.bcm.edu	37	12	133351864	133351864	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr12:133351864G>T	ENST00000450791.2	-	21	4189	c.4006C>A	c.(4006-4008)Cag>Aag	p.Q1336K	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q1336K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q1336K			Q08378	GOGA3_HUMAN	golgin A3	1336	Gln-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)		AGGTCTTCCTGGGCCATCTCC	0.443																																					p.Q1336K		.											GOLGA3,NS,carcinoma,0,1	GOLGA3	0	0			c.C4006A						.						94	85	88					12																	133351864		2203	4300	6503	SO:0001583	missense	2802	exon22			CTTCCTGGGCCAT	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.4006C>A	12.37:g.133351864G>T	ENSP00000410378:p.Gln1336Lys	48	0		43	2	NM_005895	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229233	0.39399	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.77620	-1.11;-1.11;1.97	6.07	5.15	0.70609	.	0.165252	0.56097	D	0.000036	T	0.66015	0.2747	L	0.34521	1.04	0.80722	D	1	B;B	0.32040	0.003;0.353	B;B	0.32022	0.007;0.139	T	0.61377	-0.7075	10	0.07813	T	0.8	.	15.5362	0.76004	0.0:0.0:0.7569:0.2431	.	1336;1336	Q08378-2;Q08378	.;GOGA3_HUMAN	K	1336	ENSP00000204726:Q1336K;ENSP00000410378:Q1336K;ENSP00000409303:Q1336K	ENSP00000204726:Q1336K	Q	-	1	0	GOLGA3	131861937	1.000000	0.71417	0.905000	0.35620	0.411000	0.31082	5.183000	0.65065	2.884000	0.98904	0.655000	0.94253	CAG	.		0.443	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		T	133351864	G	T	133351864	3	4	24	1	0	0	0	0	1	0	0	0	6580	1357	47	3	502	3	GOLGA3	12	133351864	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	149027	133351864	500031	631	3778											
USP12	219333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	27669906	27669906	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:27669906T>G	ENST00000282344.6	-	4	661	c.405A>C	c.(403-405)acA>acC	p.T135T		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	135	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TATCAGCAATTGTATTTAGTA	0.294																																					p.T135T	Ovarian(37;808 911 7590 44442 44991)	.											.	.	.	0			c.A405C						.						56	57	57					13																	27669906		2203	4296	6499	SO:0001819	synonymous_variant	219333	exon4			AGCAATTGTATTT	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.405A>C	13.37:g.27669906T>G		250	0		123	47	NM_182488	A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	CCDS31952.1																																																																																			.		0.294	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		G	27669906	T	G	27669906	2	3	24	1	0	0	0	0	0	0	0	1	17092	1799	63	4		4	USP12	13	27669906	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09		27669906	87499972	632	3779											
USPL1	10208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	31205128	31205128	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:31205128A>G	ENST00000255304.4	+	4	727	c.385A>G	c.(385-387)Att>Gtt	p.I129V	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	129					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)		TAGAAATTATATTGCTATTGA	0.368																																					p.I129V	Ovarian(60;318 1180 1554 28110 31601)	.											.	.	.	0			c.A385G						.						61	63	63					13																	31205128		2203	4300	6503	SO:0001583	missense	10208	exon4			AATTATATTGCTA	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.385A>G	13.37:g.31205128A>G	ENSP00000255304:p.Ile129Val	59	0		44	20	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	4.024	0.001900	0.07819	.	.	ENSG00000132952	ENST00000255304	T	0.06528	3.29	6.07	-12.1	0.00011	.	2.127980	0.01502	N	0.017556	T	0.02767	0.0083	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42716	-0.9435	10	0.02654	T	1	0.4784	3.8531	0.08963	0.2446:0.3791:0.284:0.0922	.	129	Q5W0Q7	USPL1_HUMAN	V	129	ENSP00000255304:I129V	ENSP00000255304:I129V	I	+	1	0	USPL1	30103128	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.281000	0.08456	-2.102000	0.00845	0.533000	0.62120	ATT	.		0.368	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		G	31205128	A	G	31205128	3	3	24	1	0	0	0	0	1	0	0	0	17141	449	16	4	395	4	USPL1	13	31205128	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3535222	31205128	83964750	633	3780											
FAM48A	55578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	37583918	37583918	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:37583918G>A	ENST00000350612.6	-	26	2451	c.2231C>T	c.(2230-2232)gCt>gTt	p.A744V	SUPT20H_ENST00000464744.1_Silent_p.G710G|SUPT20H_ENST00000475892.1_Silent_p.G788G|SUPT20H_ENST00000356185.3_Silent_p.G710G|SUPT20H_ENST00000360252.4_Silent_p.G710G	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	744	Gln-rich.				autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TGCTGCCATAGCCATTTGATG	0.473																																					p.A744V		.											.	.	.	0			c.C2231T						.						110	101	104					13																	37583918		2203	4300	6503	SO:0001583	missense	55578	exon26			GCCATAGCCATTT	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2231C>T	13.37:g.37583918G>A	ENSP00000218894:p.Ala744Val	76	0		39	21	NM_001014286	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	9.351	1.065521	0.20067	.	.	ENSG00000102710	ENST00000350612	T	0.32988	1.43	5.76	5.76	0.90799	.	0.121925	0.37219	N	0.002192	T	0.25865	0.0630	L	0.50333	1.59	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06935	-1.0799	10	0.12766	T	0.61	0.7452	10.9946	0.47569	0.1273:0.0:0.8727:0.0	.	744	Q8NEM7	FA48A_HUMAN	V	744	ENSP00000218894:A744V	ENSP00000218894:A744V	A	-	2	0	FAM48A	36481918	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.003000	0.57061	2.733000	0.93635	0.467000	0.42956	GCT	.		0.473	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		A	37583918	G	A	37583918	3	1	24	1	0	0	0	0	1	0	0	0	5594	971	34	3	112	3	FAM48A	13	37583918	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	6378790	37583918	77585960	634	3781											
WBP4	11193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	41636805	41636805	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:41636805A>C	ENST00000379487.3	+	2	428	c.28A>C	c.(28-30)Aag>Cag	p.K10Q	WBP4_ENST00000542082.1_Missense_Mutation_p.K10Q	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	10					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)		GTCACAGCCAAAGAAATTCTG	0.373																																					p.K10Q		.											.	.	.	0			c.A28C						.						117	112	114					13																	41636805		2203	4300	6503	SO:0001583	missense	11193	exon2			CAGCCAAAGAAAT	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.28A>C	13.37:g.41636805A>C	ENSP00000368801:p.Lys10Gln	113	0		59	25	NM_007187	B7Z4M2|Q32P29	Missense_Mutation	SNP	ENST00000379487.3	37	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724574	0.89298	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	5.06	5.06	0.68205	Zinc finger, U1-C type (1);Zinc finger, U1-type (1);	0.048439	0.85682	D	0.000000	T	0.77890	0.4198	M	0.71206	2.165	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.80772	-0.1233	9	0.72032	D	0.01	-4.9023	14.8369	0.70190	1.0:0.0:0.0:0.0	.	10;10	B7Z4M2;O75554	.;WBP4_HUMAN	Q	10	.	ENSP00000368801:K10Q	K	+	1	0	WBP4	40534805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.278000	0.89899	1.903000	0.55091	0.459000	0.35465	AAG	.		0.373	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		C	41636805	A	C	41636805	3	2	24	1	0	0	0	0	1	0	0	0	17310	15	1	4	34	4	WBP4	13	41636805	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4052887	41636805	73533073	635	3782											
KIAA0564	23078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	42357983	42357983	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:42357983T>G	ENST00000379310.3	-	19	2293	c.2225A>C	c.(2224-2226)aAt>aCt	p.N742T	VWA8_ENST00000281496.6_Missense_Mutation_p.N742T	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	742						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTCATGTGCATTATAGATCGG	0.378																																					p.N742T		.											.	.	.	0			c.A2225C						.						140	118	126					13																	42357983		2203	4300	6503	SO:0001583	missense	23078	exon19			TGTGCATTATAGA	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.2225A>C	13.37:g.42357983T>G	ENSP00000368612:p.Asn742Thr	83	0		54	14	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	8.362	0.833330	0.16820	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.11495	2.95;2.77	5.95	4.76	0.60689	.	0.060477	0.85682	D	0.000000	T	0.09468	0.0233	L	0.43923	1.385	0.52501	D	0.999957	B	0.06786	0.001	B	0.14578	0.011	T	0.10154	-1.0642	10	0.09590	T	0.72	.	11.3559	0.49615	0.0:0.0723:0.0:0.9277	.	742	A3KMH1	K0564_HUMAN	T	646;742;742	ENSP00000368612:N742T;ENSP00000281496:N742T	ENSP00000251030:N646T	N	-	2	0	KIAA0564	41255983	1.000000	0.71417	0.982000	0.44146	0.617000	0.37484	2.835000	0.48175	1.060000	0.40578	0.460000	0.39030	AAT	.		0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		G	42357983	T	G	42357983	3	3	24	1	0	0	0	0	1	0	0	0	8212	1493	52	4	3604	4	KIAA0564	13	42357983	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	721178	42357983	72811895	636	3783											
ATP7B	540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	52539138	52539138	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:52539138T>A	ENST00000242839.4	-	5	1895	c.1739A>T	c.(1738-1740)cAc>cTc	p.H580L	ATP7B_ENST00000448424.2_Missense_Mutation_p.H580L|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.H580L|ATP7B_ENST00000400366.3_Missense_Mutation_p.H469L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.H580L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	580	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				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)	CTCTATGTTGTGGACACAGGA	0.522									Wilson disease																												p.H580L		.											.	.	.	0			c.A1739T						.						90	92	92					13																	52539138		2060	4206	6266	SO:0001583	missense	540	exon5	Familial Cancer Database		ATGTTGTGGACAC	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.1739A>T	13.37:g.52539138T>A	ENSP00000242839:p.His580Leu	103	0		75	26	NM_000053	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	34	5.312918	0.95655	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	5.95	5.95	0.96441	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	N	0.21508	0.67	0.80722	D	1	D;D;D;D;D;D	0.89917	0.985;0.997;1.0;0.997;0.996;0.997	D;D;D;D;D;D	0.91635	0.971;0.943;0.999;0.955;0.943;0.985	D	0.88671	0.3195	10	0.52906	T	0.07	-23.8462	16.4237	0.83790	0.0:0.0:0.0:1.0	.	580;580;580;469;580;580	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	L	580;469;580;580;580	ENSP00000242839:H580L;ENSP00000383217:H469L;ENSP00000342559:H580L;ENSP00000416738:H580L;ENSP00000393343:H580L	ENSP00000242839:H580L	H	-	2	0	ATP7B	51437139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.649000	0.83500	2.279000	0.76181	0.533000	0.62120	CAC	.		0.522	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		A	52539138	T	A	52539138	3	1	24	1	0	0	0	0	1	0	0	0	1192	1696	59	5	2726	5	ATP7B	13	52539138	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	10181155	52539138	62630740	637	3784											
ALG11	9724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	52598853	52598853	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:52598853G>A	ENST00000521776.2	+	0	27				ALG11_ENST00000521508.1_Silent_p.K329K|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)						cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		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;2.3e-08)		TGAATAAGAAGATGGTTGAGT	0.448																																					p.K329K		.											.	.	.	0			c.G987A						.						105	105	105					13																	52598853		2203	4300	6503			440138	exon3			TAAGAAGATGGTT	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.-707G>A	13.37:g.52598853G>A		60	0		38	17	NM_001004127	Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	37	CCDS31978.1																																																																																			.		0.448	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		A	52598853	G	A	52598853	1	1	24	1	0	1	0	0	0	0	0	0	513	933	33	3		3	ALG11	13	52598853	De_novo_Start_OutOfFrame	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	59715	52598853	62571025	638	3785											
UTP14C	9724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	52603174	52603174	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:52603174A>C	ENST00000521776.2	+	2	967	c.234A>C	c.(232-234)gaA>gaC	p.E78D	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	78					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		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;2.3e-08)		TCAGTTCTGAAGGATCAGGAG	0.438																																					p.E78D		.											.	.	.	0			c.A234C						.						188	194	192					13																	52603174		2203	4300	6503	SO:0001583	missense	9724	exon2			TTCTGAAGGATCA	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.234A>C	13.37:g.52603174A>C	ENSP00000428619:p.Glu78Asp	87	0		60	27	NM_021645	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391568	0.42410	.	.	ENSG00000253797	ENST00000521776	T	0.18657	2.2	2.28	-3.21	0.05140	.	0.234782	0.49305	D	0.000141	T	0.29914	0.0748	M	0.71581	2.175	0.36748	D	0.882615	D	0.55800	0.973	P	0.62382	0.901	T	0.25745	-1.0123	10	0.46703	T	0.11	-5.3239	2.5993	0.04862	0.4568:0.0:0.1397:0.4035	.	78	Q5TAP6	UT14C_HUMAN	D	78	ENSP00000428619:E78D	ENSP00000428619:E78D	E	+	3	2	UTP14C	51501175	0.232000	0.23762	0.925000	0.36789	0.983000	0.72400	0.321000	0.19558	-0.846000	0.04174	0.368000	0.22195	GAA	.		0.438	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		C	52603174	A	C	52603174	3	2	24	1	0	0	0	0	1	0	0	0	17145	69	3	4	236	4	UTP14C	13	52603174	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4321	52603174	62566704	639	3786											
MYCBP2	23077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	77672823	77672823	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:77672823A>C	ENST00000544440.2	-	56	8369	c.8352T>G	c.(8350-8352)ccT>ccG	p.P2784P	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.P2822P|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Silent_p.P307P|MYCBP2_ENST00000357337.6_Silent_p.P2784P					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)		TCTTTGGCTTAGGAGATGACA	0.502																																					p.P2822P		.											.	.	.	0			c.T8466G						.						106	107	107					13																	77672823		2203	4300	6503	SO:0001819	synonymous_variant	23077	exon56			TGGCTTAGGAGAT	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.8352T>G	13.37:g.77672823A>C		43	0		26	12	NM_015057		Silent	SNP	ENST00000544440.2	37																																																																																				.		0.502	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77672823	A	C	77672823	2	2	24	1	0	0	0	0	0	0	0	1	10056	407	15	4		4	MYCBP2	13	77672823	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	25069649	77672823	37497055	640	3787											
TMTC4	84899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	101320946	101320946	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:101320946G>A	ENST00000376234.3	-	2	238	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	TMTC4_ENST00000328767.5_Missense_Mutation_p.L17F|TMTC4_ENST00000342624.5_Missense_Mutation_p.L36F	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	17						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)					AATGGAGGAAGAACAGAAGAT	0.473																																					p.L36F		.											TMTC4,NS,carcinoma,0,1	TMTC4	0	0			c.C106T						.						123	113	116					13																	101320946		1982	4157	6139	SO:0001583	missense	84899	exon3			GAGGAAGAACAGA		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.49C>T	13.37:g.101320946G>A	ENSP00000365408:p.Leu17Phe	89	0		47	19	NM_032813	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	g	16.60	3.167661	0.57476	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767;ENST00000475272;ENST00000423847	T;T;T	0.56275	0.83;0.83;0.47	5.66	4.79	0.61399	.	0.059289	0.64402	D	0.000001	T	0.66277	0.2773	M	0.77486	2.375	0.29151	N	0.878372	D;B;P	0.53619	0.961;0.039;0.629	P;B;B	0.52758	0.708;0.013;0.177	T	0.67658	-0.5614	10	0.87932	D	0	.	16.0464	0.80724	0.0:0.0:0.8654:0.1346	.	17;17;36	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	F	17;36;17;36;17	ENSP00000365408:L17F;ENSP00000343871:L36F;ENSP00000365409:L17F	ENSP00000365409:L17F	L	-	1	0	TMTC4	100118947	1.000000	0.71417	0.137000	0.22149	0.152000	0.21847	5.739000	0.68622	2.676000	0.91093	0.558000	0.71614	CTT	.		0.473	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		A	101320946	G	A	101320946	3	1	24	1	0	0	0	0	1	0	0	0	16310	942	33	3	2244	3	TMTC4	13	101320946	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	23648123	101320946	13848932	641	3788											
ZNF828	283489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	115090640	115090640	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr13:115090640A>C	ENST00000361283.1	+	3	1632	c.1323A>C	c.(1321-1323)aaA>aaC	p.K441N		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	441	Mediates interaction with MAD2L2.|Pro-rich.				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)										AGCTCAGAAAACCCTCAGGGT	0.537																																					p.K441N		.											.	.	.	0			c.A1323C						.						93	106	102					13																	115090640		2203	4300	6503	SO:0001583	missense	283489	exon3			CAGAAAACCCTCA	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.1323A>C	13.37:g.115090640A>C	ENSP00000354730:p.Lys441Asn	59	0		33	16	NM_001164144	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943526	0.53079	.	.	ENSG00000198824	ENST00000361283	T	0.02446	4.29	5.8	-0.871	0.10642	.	0.000000	0.64402	D	0.000010	T	0.09202	0.0227	M	0.63843	1.955	0.34696	D	0.726215	D	0.89917	1.0	D	0.74348	0.983	T	0.02345	-1.1173	9	.	.	.	-11.311	9.9317	0.41525	0.6328:0.0:0.3672:0.0	.	441	Q96JM3	ZN828_HUMAN	N	441	ENSP00000354730:K441N	.	K	+	3	2	ZNF828	114108742	0.988000	0.35896	0.983000	0.44433	0.952000	0.60782	0.123000	0.15708	-0.358000	0.08162	-0.256000	0.11100	AAA	.		0.537	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		C	115090640	A	C	115090640	3	2	24	1	0	0	0	0	1	0	0	0	18229	40	2	4	1325	4	ZNF828	13	115090640	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	13769694	115090640	79238	642	3789											
OR4Q3	441669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	20216384	20216384	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:20216384C>G	ENST00000331723.1	+	1	798	c.798C>G	c.(796-798)ttC>ttG	p.F266L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	266						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(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGCAGCTTCTCTGTGGATA	0.443																																					p.F266L		.											.	.	.	0			c.C798G						.						165	168	167					14																	20216384		2203	4300	6503	SO:0001583	missense	441669	exon1			CAGCTTCTCTGTG	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.798C>G	14.37:g.20216384C>G	ENSP00000330049:p.Phe266Leu	37	0		27	6	NM_172194	Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	4.669	0.124358	0.08931	.	.	ENSG00000182652	ENST00000331723	T	0.00054	8.8	4.35	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	U	0.000726	T	0.00073	0.0002	N	0.17838	0.53	0.09310	N	1	B	0.14012	0.009	B	0.23574	0.047	T	0.12372	-1.0550	10	0.09590	T	0.72	.	5.2315	0.15424	0.0:0.6163:0.1667:0.2171	.	266	Q8NH05	OR4Q3_HUMAN	L	266	ENSP00000330049:F266L	ENSP00000330049:F266L	F	+	3	2	OR4Q3	19286224	0.000000	0.05858	1.000000	0.80357	0.697000	0.40408	0.427000	0.21379	0.415000	0.25817	-0.366000	0.07423	TTC	.		0.443	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			G	20216384	C	G	20216384	3	3	24	1	0	0	0	0	1	0	0	0	11120	912	32	5	800	5	OR4Q3	14	20216384	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09		20216384	87133156	643	3790											
OR4N2	390429	hgsc.bcm.edu;bcgsc.ca	37	14	20295956	20295956	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:20295956G>T	ENST00000315947.1	+	1	349	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	OR4N2_ENST00000568211.1_Missense_Mutation_p.V117L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, 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)			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)		ACTCCTTGTTGTGATGGCCTT	0.512																																					p.V117L		.											.	.	.	0			c.G349T						.						133	143	140					14																	20295956		2203	4298	6501	SO:0001583	missense	390429	exon1			CTTGTTGTGATGG		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.349G>T	14.37:g.20295956G>T	ENSP00000319601:p.Val117Leu	175	0		126	29	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	16.71	3.199348	0.58126	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.05139	3.49;3.49	4.53	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000424	T	0.07324	0.0185	L	0.35487	1.065	0.09310	N	1	D	0.61080	0.989	P	0.51701	0.677	T	0.24225	-1.0166	10	0.41790	T	0.15	-14.2389	5.4387	0.16496	0.17:0.0:0.6693:0.1606	.	117	Q8NGD1	OR4N2_HUMAN	L	117	ENSP00000452022:V117L;ENSP00000319601:V117L	ENSP00000319601:V117L	V	+	1	0	OR4N2	19365796	0.024000	0.19004	0.586000	0.28679	0.973000	0.67179	1.989000	0.40707	0.214000	0.20742	0.591000	0.81541	GTG	.		0.512	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			T	20295956	G	T	20295956	3	4	24	1	0	0	0	0	1	0	0	0	11116	1377	48	3	351	3	OR4N2	14	20295956	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	79572	20295956	87053584	644	3791											
CHD8	57680	hgsc.bcm.edu	37	14	21896185	21896185	+	Silent	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:21896185G>T	ENST00000557364.1	-	4	1707	c.1444C>A	c.(1444-1446)Cga>Aga	p.R482R	CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000399982.2_Silent_p.R482R|CHD8_ENST00000430710.3_Silent_p.R203R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	482					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)	p.R482*(1)		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)		TTTAAGACTCGAGGTATGTTC	0.542																																					p.R482R		.											CHD8,NS,carcinoma,0,1	CHD8	0	1	Substitution - Nonsense(1)	prostate(1)	c.C1444A						.						135	132	133					14																	21896185		2025	4175	6200	SO:0001819	synonymous_variant	57680	exon3			AGACTCGAGGTAT	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.1444C>A	14.37:g.21896185G>T		33	0		29	2	NM_001170629	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	CCDS53885.1																																																																																			.		0.542	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		T	21896185	G	T	21896185	2	4	24	1	0	0	0	0	0	0	0	1	3338	1066	37	2		2	CHD8	14	21896185	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1600229	21896185	85453355	645	3792											
HAUS4	54930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	23416891	23416891	+	Missense_Mutation	SNP	C	C	T	rs551628708		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:23416891C>T	ENST00000206474.7	-	8	1010	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	HAUS4_ENST00000541587.1_Missense_Mutation_p.R253Q|HAUS4_ENST00000555986.1_Missense_Mutation_p.R208Q|HAUS4_ENST00000490506.1_Missense_Mutation_p.R129Q|HAUS4_ENST00000342454.8_Missense_Mutation_p.R208Q|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000555367.1_Missense_Mutation_p.R208Q|HAUS4_ENST00000347758.2_Missense_Mutation_p.R127Q|HAUS4_ENST00000397409.4_Missense_Mutation_p.R127Q|RP11-298I3.5_ENST00000555074.1_Silent_p.P82P|RP11-298I3.1_ENST00000548819.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	253					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)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						AGTCTTCAGCCGGTGTTCTTG	0.517																																					p.R253Q		.											.	.	.	0			c.G758A						.						92	88	89					14																	23416891		2203	4300	6503	SO:0001583	missense	54930	exon8			TTCAGCCGGTGTT	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.758G>A	14.37:g.23416891C>T	ENSP00000206474:p.Arg253Gln	79	0		59	31	NM_001166269	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159954	0.94727	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	M	0.63843	1.955	0.45025	D	0.998045	D;D;D	0.76494	0.998;0.997;0.999	D;P;D	0.77557	0.986;0.786;0.99	T	0.79115	-0.1936	9	0.87932	D	0	-23.0366	15.5002	0.75691	0.0:1.0:0.0:0.0	.	208;127;253	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	Q	253;129;253;208;127;127;208;208;253;30	.	ENSP00000206474:R253Q	R	-	2	0	RP11-298I3.5;HAUS4	22486731	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.120000	0.50430	2.375000	0.81037	0.585000	0.79938	CGG	.		0.517	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			T	23416891	C	T	23416891	3	4	24	1	0	0	0	0	1	0	0	0	6995	652	23	1	345	1	HAUS4	14	23416891	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1520706	23416891	83932649	646	3793											
LRRC16B	90668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24532678	24532678	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:24532678G>A	ENST00000342740.5	+	31	3069	c.2915G>A	c.(2914-2916)aGg>aAg	p.R972K	LRRC16B_ENST00000334420.7_Missense_Mutation_p.R68K	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	972						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)		TACAAACTAAGGCATCAAACA	0.602																																					p.R972K		.											.	.	.	0			c.G2915A						.						47	56	53					14																	24532678		2203	4300	6503	SO:0001583	missense	90668	exon31			AACTAAGGCATCA	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.2915G>A	14.37:g.24532678G>A	ENSP00000340467:p.Arg972Lys	22	0		19	14	NM_138360	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700986	0.48307	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.39997	1.05;1.05	5.12	3.16	0.36331	.	0.122178	0.37669	N	0.001985	T	0.32194	0.0821	L	0.50333	1.59	0.31545	N	0.659475	B;B	0.14438	0.0;0.01	B;B	0.10450	0.001;0.005	T	0.33343	-0.9872	10	0.54805	T	0.06	-15.1777	4.3652	0.11222	0.1859:0.0:0.6339:0.1802	.	68;972	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	K	972;68	ENSP00000340467:R972K;ENSP00000334701:R68K	ENSP00000334701:R68K	R	+	2	0	LRRC16B	23602518	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	2.483000	0.45233	1.289000	0.44618	-0.258000	0.10820	AGG	.		0.602	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		A	24532678	G	A	24532678	3	1	24	1	0	0	0	0	1	0	0	0	9007	1000	35	3	3037	3	LRRC16B	14	24532678	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1115787	24532678	82816862	647	3794											
CIDEB	27141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24777048	24777048	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:24777048G>T	ENST00000336557.5	-	4	1319	c.17C>A	c.(16-18)gCt>gAt	p.A6D	NOP9_ENST00000267425.3_3'UTR|LTB4R2_ENST00000533293.1_5'Flank|CIDEB_ENST00000555817.1_5'Flank|LTB4R2_ENST00000543919.1_5'Flank|CIDEB_ENST00000258807.5_Missense_Mutation_p.A6D|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000554411.1_Missense_Mutation_p.A6D			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	6					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)		GGGGTTCAGAGCTGAGAGGTA	0.547											OREG0022623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A6D		.											.	.	.	0			c.C17A						.						179	140	153					14																	24777048		2203	4299	6502	SO:0001583	missense	27141	exon3			TTCAGAGCTGAGA	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.17C>A	14.37:g.24777048G>T	ENSP00000337731:p.Ala6Asp	54	0	774	35	10	NM_014430	D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP	ENST00000336557.5	37	CCDS32056.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864734	0.32977	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	T;T;T	0.45276	0.9;0.9;0.9	4.93	3.07	0.35406	.	1.014060	0.07862	N	0.966471	T	0.38532	0.1044	L	0.50333	1.59	0.58432	D	0.999999	B	0.21520	0.057	B	0.26969	0.075	T	0.22068	-1.0227	10	0.46703	T	0.11	-8.4268	6.1878	0.20508	0.0949:0.0:0.7209:0.1842	.	6	Q9UHD4	CIDEB_HUMAN	D	6	ENSP00000451089:A6D;ENSP00000337731:A6D;ENSP00000258807:A6D	ENSP00000258807:A6D	A	-	2	0	CIDEB	23846888	0.918000	0.31147	0.858000	0.33744	0.864000	0.49448	1.963000	0.40452	0.769000	0.33313	0.491000	0.48974	GCT	.		0.547	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			T	24777048	G	T	24777048	3	4	24	1	0	0	0	0	1	0	0	0	3433	971	34	3	662	3	CIDEB	14	24777048	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	244370	24777048	82572492	648	3795											
SCFD1	23256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	31097418	31097418	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:31097418C>G	ENST00000458591.2	+	2	292	c.65C>G	c.(64-66)gCt>gGt	p.A22G	SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_Intron	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	22					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)		TTTTCAGTGGCTTTGAAGCGT	0.318																																					p.A22G		.											.	.	.	0			c.C65G						.						78	81	80					14																	31097418		2203	4299	6502	SO:0001583	missense	23256	exon2			CAGTGGCTTTGAA	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.65C>G	14.37:g.31097418C>G	ENSP00000390783:p.Ala22Gly	101	0		56	21	NM_016106	A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665988	0.67700	.	.	ENSG00000092108	ENST00000458591	T	0.30981	1.51	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	N	0.08118	0	0.80722	D	1	B	0.24533	0.105	B	0.33521	0.165	T	0.14172	-1.0482	10	0.54805	T	0.06	-17.9096	18.4713	0.90776	0.0:1.0:0.0:0.0	.	22	Q8WVM8	SCFD1_HUMAN	G	22	ENSP00000390783:A22G	ENSP00000309417:A30G	A	+	2	0	SCFD1	30167169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.325000	0.79124	2.601000	0.87937	0.655000	0.94253	GCT	.		0.318	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		G	31097418	C	G	31097418	3	3	24	1	0	0	0	0	1	0	0	0	13934	797	28	5	71	5	SCFD1	14	31097418	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	6320370	31097418	76252122	649	3796											
SRP54	6729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	35468824	35468824	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:35468824A>G	ENST00000556994.1	+	4	536	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000546080.1_Intron|SRP54_ENST00000216774.6_Missense_Mutation_p.K47E|SRP54_ENST00000555557.1_Intron			P61011	SRP54_HUMAN	signal recognition particle 54kDa	47	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TGTTAATATTAAACTAGTGAA	0.323																																					p.K47E		.											.	.	.	0			c.A139G						.						106	111	110					14																	35468824		2203	4300	6503	SO:0001583	missense	6729	exon3			AATATTAAACTAG	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.139A>G	14.37:g.35468824A>G	ENSP00000451818:p.Lys47Glu	57	0		37	20	NM_003136	B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683535	0.68157	.	.	ENSG00000100883	ENST00000556994;ENST00000555746;ENST00000216774	.	.	.	5.64	5.64	0.86602	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	M	0.67397	2.05	0.80722	D	1	B	0.27700	0.186	B	0.33339	0.162	T	0.66416	-0.5929	9	0.66056	D	0.02	-20.663	15.862	0.79032	1.0:0.0:0.0:0.0	.	47	P61011	SRP54_HUMAN	E	47	.	ENSP00000216774:K47E	K	+	1	0	SRP54	34538575	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.133000	0.94460	2.145000	0.66743	0.460000	0.39030	AAA	.		0.323	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		G	35468824	A	G	35468824	3	3	24	1	0	0	0	0	1	0	0	0	15202	363	13	4	145	4	SRP54	14	35468824	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4371406	35468824	71880716	650	3797											
PRPF39	55015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	45583442	45583442	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:45583442A>C	ENST00000355765.6	+	12	1984	c.1814A>C	c.(1813-1815)aAa>aCa	p.K605T		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	605					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GATTCTTTAAAAAGGAAAGCA	0.333																																					p.K605T		.											.	.	.	0			c.A1814C						.						53	55	54					14																	45583442		2202	4297	6499	SO:0001583	missense	55015	exon12			CTTTAAAAAGGAA	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.1814A>C	14.37:g.45583442A>C	ENSP00000348010:p.Lys605Thr	147	0		94	33	NM_017922	Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775254	0.70107	.	.	ENSG00000185246	ENST00000355765	T	0.42900	0.96	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.972	T	0.63251	-0.6679	10	0.62326	D	0.03	-18.0472	14.7269	0.69351	1.0:0.0:0.0:0.0	.	209;605	Q86UA1-2;Q86UA1	.;PRP39_HUMAN	T	605	ENSP00000348010:K605T	ENSP00000348010:K605T	K	+	2	0	PRPF39	44653192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.631000	0.90991	2.147000	0.66899	0.533000	0.62120	AAA	.		0.333	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			C	45583442	A	C	45583442	3	2	24	1	0	0	0	0	1	0	0	0	12611	14	1	4	1856	4	PRPF39	14	45583442	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	10114618	45583442	61766098	651	3798											
ATP5S	27109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	50789296	50789296	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:50789296G>T	ENST00000311459.7	+	3	600	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000358473.1_Missense_Mutation_p.G46W|ATP5S_ENST00000426751.2_Missense_Mutation_p.G74W|ATP5S_ENST00000245448.6_Missense_Mutation_p.G74W	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	74	N-terminal domain.				ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		GCTGCGCTGTGGGGCCATGGT	0.552																																					p.G74W		.											.	.	.	0			c.G220T						.						78	70	73					14																	50789296		2203	4300	6503	SO:0001583	missense	27109	exon3			CGCTGTGGGGCCA	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.220G>T	14.37:g.50789296G>T	ENSP00000308334:p.Gly74Trp	45	0		15	5	NM_015684	A8K1U3|D9N156|Q8WWX3|Q96F77	Missense_Mutation	SNP	ENST00000311459.7	37	CCDS32075.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074540	0.94000	.	.	ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000245448;ENST00000426751;ENST00000311459;ENST00000358473;ENST00000553905	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	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;1.0;1.0;1.0	D	0.99585	1.0974	10	0.87932	D	0	-21.9751	20.017	0.97481	0.0:0.0:1.0:0.0	.	46;74;74;74	Q8WXQ4;Q99766-3;Q99766;Q99766-2	.;.;ATP5S_HUMAN;.	W	74;74;74;46;46	ENSP00000245448:G74W;ENSP00000389246:G74W;ENSP00000308334:G74W;ENSP00000351258:G46W	ENSP00000245448:G74W	G	+	1	0	RP11-247L20.2;ATP5S	49859046	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.841000	0.99482	2.723000	0.93209	0.585000	0.79938	GGG	.		0.552	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684		T	50789296	G	T	50789296	3	4	24	1	0	0	0	0	1	0	0	0	1164	1348	47	3	230	3	ATP5S	14	50789296	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	5205854	50789296	56560244	652	3799											
PTGER2	5732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	52781389	52781389	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:52781389A>G	ENST00000245457.5	+	1	277	c.123A>G	c.(121-123)atA>atG	p.I41M	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	41					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GGAACCTCATAGCACTGGCGC	0.697																																					p.I41M		.											.	.	.	0			c.A123G						.						19	24	23					14																	52781389		2199	4298	6497	SO:0001583	missense	5732	exon1			CCTCATAGCACTG		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.123A>G	14.37:g.52781389A>G	ENSP00000245457:p.Ile41Met	73	0		41	21	NM_000956	D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230577	0.39399	.	.	ENSG00000125384	ENST00000245457	T	0.38401	1.14	5.19	-1.54	0.08584	GPCR, rhodopsin-like superfamily (1);	0.500239	0.22190	N	0.063383	T	0.24661	0.0598	L	0.56769	1.78	0.40053	D	0.975792	B	0.22480	0.07	B	0.19148	0.024	T	0.07501	-1.0769	10	0.41790	T	0.15	-25.3127	1.4275	0.02326	0.2413:0.4066:0.1152:0.2369	.	41	P43116	PE2R2_HUMAN	M	41	ENSP00000245457:I41M	ENSP00000245457:I41M	I	+	3	3	PTGER2	51851139	0.001000	0.12720	0.998000	0.56505	0.983000	0.72400	-1.370000	0.02575	0.031000	0.15407	-0.254000	0.11334	ATA	.		0.697	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			G	52781389	A	G	52781389	3	3	24	1	0	0	0	0	1	0	0	0	12786	410	15	4	125	4	PTGER2	14	52781389	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1992093	52781389	54568151	653	3800											
BMP4	652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	54418732	54418732	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:54418732C>G	ENST00000245451.4	-	3	602	c.209G>C	c.(208-210)cGc>cCc	p.R70P	BMP4_ENST00000417573.1_Missense_Mutation_p.R70P|BMP4_ENST00000558984.1_Missense_Mutation_p.R70P|BMP4_ENST00000559087.1_Missense_Mutation_p.R70P	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	70					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGGCTGCGGGCGGCGGCGCAG	0.632																																					p.R70P		.											BMP4,colon,carcinoma,0,2	BMP4	0	0			c.G209C						.						42	45	44					14																	54418732		2203	4300	6503	SO:0001583	missense	652	exon3			TGCGGGCGGCGGC	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.209G>C	14.37:g.54418732C>G	ENSP00000245451:p.Arg70Pro	32	0		25	15	NM_130851	Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076408	0.94000	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.70045	-0.45;-0.45	5.2	5.2	0.72013	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81280	-0.1004	10	0.87932	D	0	.	17.9081	0.88926	0.0:1.0:0.0:0.0	.	70	P12644	BMP4_HUMAN	P	70	ENSP00000245451:R70P;ENSP00000394165:R70P	ENSP00000245451:R70P	R	-	2	0	BMP4	53488482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.558000	0.82253	2.717000	0.92951	0.655000	0.94253	CGC	.		0.632	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		G	54418732	C	G	54418732	3	3	24	1	0	0	0	0	1	0	0	0	1464	768	27	5	1025	5	BMP4	14	54418732	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1637343	54418732	52930808	654	3801											
SAMD4A	23034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	55169112	55169112	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:55169112T>C	ENST00000554335.1	+	3	1192	c.529T>C	c.(529-531)Tat>Cat	p.Y177H	SAMD4A_ENST00000357634.3_Missense_Mutation_p.Y176H|SAMD4A_ENST00000392067.3_Missense_Mutation_p.Y177H|SAMD4A_ENST00000251091.5_Missense_Mutation_p.Y177H|SAMD4A_ENST00000555112.1_3'UTR			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	177					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						GACACACTACTATCACCAAAG	0.522																																					p.Y177H		.											.	.	.	0			c.T529C						.						65	61	62					14																	55169112		2203	4300	6503	SO:0001583	missense	23034	exon2			CACTACTATCACC	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.529T>C	14.37:g.55169112T>C	ENSP00000452535:p.Tyr177His	30	0		31	16	NM_015589	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	T	12.61	1.990353	0.35131	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T;T	0.73681	-0.73;-0.73;-0.77;-0.73	6.17	5.04	0.67666	.	0.205098	0.43260	D	0.000591	T	0.52565	0.1742	N	0.13043	0.29	0.22226	N	0.999275	B;B;B	0.18461	0.028;0.004;0.006	B;B;B	0.13407	0.009;0.003;0.004	T	0.30327	-0.9982	10	0.15952	T	0.53	-16.3418	7.8067	0.29206	0.0:0.0688:0.1397:0.7915	.	76;177;177	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	H	177;177;177;176;176	ENSP00000452535:Y177H;ENSP00000375919:Y177H;ENSP00000251091:Y176H;ENSP00000350261:Y176H	ENSP00000306381:Y177H	Y	+	1	0	SAMD4A	54238862	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.859000	0.55987	2.371000	0.80710	0.533000	0.62120	TAT	.		0.522	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		C	55169112	T	C	55169112	3	2	24	1	0	0	0	0	1	0	0	0	13866	1522	53	4	532	4	SAMD4A	14	55169112	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	750380	55169112	52180428	655	3802											
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	64565493	64565493	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:64565493T>A	ENST00000344113.4	+	63	12547	c.12335T>A	c.(12334-12336)cTg>cAg	p.L4112Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.L4145Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.L746Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4112Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.L497Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.L497Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4112					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)		ATGTCTTACCTGGCAGCAGTC	0.458																																					p.L4112Q		.											.	.	.	0			c.T12335A						.						117	114	115					14																	64565493		2203	4300	6503	SO:0001583	missense	23224	exon63			CTTACCTGGCAGC	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.12335T>A	14.37:g.64565493T>A	ENSP00000341781:p.Leu4112Gln	42	0		44	19	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460155	0.26248	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.62788	0.37;3.67;0.37;-0.0;3.72;3.67	5.52	4.35	0.52113	.	0.161089	0.29609	N	0.011666	T	0.64983	0.2648	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D	0.71674	0.997;0.994;0.998;0.965	D;P;D;P	0.66716	0.943;0.871;0.946;0.66	T	0.64935	-0.6290	10	0.49607	T	0.09	.	8.4987	0.33144	0.0:0.092:0.0:0.908	.	497;4146;4112;4112	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	4112;497;4112;4145;4145;746;497;4	ENSP00000350719:L4112Q;ENSP00000349969:L497Q;ENSP00000341781:L4112Q;ENSP00000452570:L4145Q;ENSP00000450831:L746Q;ENSP00000378249:L497Q	ENSP00000261678:L4145Q	L	+	2	0	SYNE2	63635246	1.000000	0.71417	0.958000	0.39756	0.163000	0.22366	2.538000	0.45710	2.228000	0.72767	0.533000	0.62120	CTG	.		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64565493	T	A	64565493	3	1	24	1	0	0	0	0	1	0	0	0	15493	1580	55	5	12581	5	SYNE2	14	64565493	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	9396381	64565493	42784047	656	3803											
GPX2	2877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	65406264	65406264	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:65406264G>C	ENST00000389614.5	-	2	601	c.515C>G	c.(514-516)aCc>aGc	p.T172S	FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	172					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GGTTGGGAAGGTGCGGCTGTA	0.537																																					.		.											.	.	.	0			.						.						161	156	158					14																	65406264		2002	4170	6172	SO:0001583	missense	2877	p.T172S			GGGAAGGTGCGGC		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.515C>G	14.37:g.65406264G>C	ENSP00000374265:p.Thr172Ser	42	0		31	15	.	Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104798	0.37145	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.22336	1.96;3.76	6.05	5.15	0.70609	Thioredoxin-like fold (2);	0.427480	0.22936	N	0.053850	T	0.14960	0.0361	N	0.25992	0.78	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06092	-1.0846	10	0.32370	T	0.25	-0.9409	10.4834	0.44706	0.0:0.2684:0.5929:0.1387	.	172	P18283	GPX2_HUMAN	S	172;116	ENSP00000374265:T172S;ENSP00000451721:T116S	ENSP00000374265:T172S	T	-	2	0	GPX2	64476017	0.870000	0.30015	1.000000	0.80357	0.998000	0.95712	1.000000	0.29770	1.546000	0.49388	0.650000	0.86243	ACC	.		0.537	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			C	65406264	G	C	65406264	3	2	24	1	0	0	0	0	1	0	0	0	6767	1261	44	5	61	5	GPX2	14	65406264	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	840771	65406264	41943276	657	3804											
KIAA0247	9766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	70175521	70175521	+	Missense_Mutation	SNP	G	G	A	rs368679025		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:70175521G>A	ENST00000342745.4	+	5	899	c.586G>A	c.(586-588)Gta>Ata	p.V196I		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	196						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		TGACCCCAGAGTACAGATTGT	0.592																																					p.V196I		.											.	.	.	0			c.G586A						.	G	ILE/VAL	0,4406		0,0,2203	83	80	81		586	4.5	1	14		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0247	NM_014734.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	196/304	70175521	1,13005	2203	4300	6503	SO:0001583	missense	9766	exon5			CCCAGAGTACAGA	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.586G>A	14.37:g.70175521G>A	ENSP00000344424:p.Val196Ile	30	0		16	6	NM_014734		Missense_Mutation	SNP	ENST00000342745.4	37	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598084	0.46318	0.0	1.16E-4	ENSG00000100647	ENST00000342745	T	0.68025	-0.3	5.4	4.5	0.54988	.	0.057714	0.64402	D	0.000002	T	0.57272	0.2042	L	0.38531	1.155	0.58432	D	0.999993	B	0.14012	0.009	B	0.17433	0.018	T	0.57659	-0.7773	10	0.56958	D	0.05	-13.9175	13.5149	0.61535	0.075:0.0:0.925:0.0	.	196	Q92537	K0247_HUMAN	I	196	ENSP00000344424:V196I	ENSP00000344424:V196I	V	+	1	0	KIAA0247	69245274	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	6.436000	0.73417	2.513000	0.84729	0.563000	0.77884	GTA	.		0.592	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		A	70175521	G	A	70175521	3	1	24	1	0	0	0	0	1	0	0	0	8192	1029	36	3	600	3	KIAA0247	14	70175521	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	4769257	70175521	37174019	658	3805											
SYNJ2BP	55333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	70839843	70839843	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:70839843C>T	ENST00000256366.4	-	4	384	c.303G>A	c.(301-303)caG>caA	p.Q101Q	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	101					intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CATTCTGCACCTGTAACTGGA	0.468																																					p.Q101Q		.											.	.	.	0			c.G303A						.						113	93	100					14																	70839843		2203	4300	6503	SO:0001819	synonymous_variant	0	exon4			CTGCACCTGTAAC	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"activin receptor interacting protein 5"	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.303G>A	14.37:g.70839843C>T		42	0		23	10	NM_001202547	Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	CCDS9803.1																																																																																			.		0.468	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		T	70839843	C	T	70839843	2	4	24	1	0	0	0	0	0	0	0	1	15501	680	24	3		3	SYNJ2BP	14	70839843	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	664322	70839843	36509697	659	3806											
ADAM21	8747	broad.mit.edu;bcgsc.ca	37	14	70924269	70924269	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:70924269G>T	ENST00000603540.1	+	2	311	c.53G>T	c.(52-54)tGg>tTg	p.W18L	ADAM21_ENST00000267499.3_Missense_Mutation_p.W18L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	18					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)		CTGCTGCTCTGGCTTGGGGTA	0.532																																					p.W18L													.	ADAM21	181	0			c.G53T						.						91	107	102					14																	70924269		2203	4300	6503	SO:0001583	missense	8747	exon2			TGCTCTGGCTTGG	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.53G>T	14.37:g.70924269G>T	ENSP00000474385:p.Trp18Leu	27	0		11	6	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517700	0.27123	.	.	ENSG00000139985	ENST00000267499	T	0.01025	5.43	3.77	1.89	0.25635	.	0.259259	0.20634	U	0.088524	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.48811	-0.9002	10	0.48119	T	0.1	.	5.0295	0.14402	0.1711:0.0:0.6447:0.1842	.	18	Q9UKJ8	ADA21_HUMAN	L	18	ENSP00000267499:W18L	ENSP00000267499:W18L	W	+	2	0	ADAM21	69994022	0.020000	0.18652	0.853000	0.33588	0.169000	0.22640	0.563000	0.23547	0.912000	0.36772	-0.261000	0.10672	TGG	.		0.532	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70924269	G	T	70924269	3	4	24	1	0	0	0	0	1	0	0	0	243	1357	47	3	55	3	ADAM21	14	70924269	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	84426	70924269	36425271	660	3807											
C14orf43	91748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	74189546	74189546	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:74189546T>G	ENST00000286523.5	-	10	3361	c.2579A>C	c.(2578-2580)cAg>cCg	p.Q860P	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Q860P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	860	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGTCTTGGTCTGGATCTGGTT	0.517																																					p.Q860P		.											.	.	.	0			c.A2579C						.						177	165	169					14																	74189546		2203	4300	6503	SO:0001583	missense	91748	exon10			TTGGTCTGGATCT	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.2579A>C	14.37:g.74189546T>G	ENSP00000286523:p.Gln860Pro	64	0		50	20	NM_194278	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040982	0.75732	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.38	5.38	0.77491	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.101180	0.41605	D	0.000842	T	0.24890	0.0604	N	0.03948	-0.315	0.41263	D	0.986797	D;D	0.59357	0.967;0.985	B;P	0.53006	0.326;0.715	T	0.33266	-0.9875	10	0.46703	T	0.11	-17.679	15.3898	0.74735	0.0:0.0:0.0:1.0	.	860;860	A0PJD3;Q6PJG2	.;CN043_HUMAN	P	860	ENSP00000377634:Q860P;ENSP00000286523:Q860P;ENSP00000407767:Q860P;ENSP00000402380:Q860P	ENSP00000286523:Q860P	Q	-	2	0	C14orf43	73259299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.365000	0.52335	2.051000	0.60960	0.459000	0.35465	CAG	.		0.517	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		G	74189546	T	G	74189546	3	3	24	1	0	0	0	0	1	0	0	0	1779	1580	55	4	570	4	C14orf43	14	74189546	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3265277	74189546	33159994	661	3808											
ZNF410	57862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	74387683	74387683	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:74387683G>A	ENST00000555044.1	+	9	1198	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	ZNF410_ENST00000324593.6_Splice_Site_p.G335E|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Splice_Site_p.G352E|RP5-1021I20.5_ENST00000554009.1_RNA|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000540593.1_Splice_Site_p.G262E|ZNF410_ENST00000334521.4_Splice_Site_p.G282E	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	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)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCTGTTTCAGGAGAGAAGCCT	0.473																																					p.G352E		.											.	.	.	0			c.G1055A						.						109	101	104					14																	74387683		2203	4300	6503	SO:0001630	splice_region_variant	57862	exon10			TTTCAGGAGAGAA	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.1004-1G>A	14.37:g.74387683G>A		49	0		26	7	NM_001242924	B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361792	0.82353	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	4.86	4.86	0.63082	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000686	T	0.48352	0.1495	L	0.58810	1.83	0.80722	D	1	D;D;D;D;D;D	0.89917	0.983;1.0;1.0;0.999;1.0;0.983	P;D;D;D;D;P	0.97110	0.822;1.0;0.999;0.998;1.0;0.822	T	0.32402	-0.9908	9	.	.	.	.	18.1415	0.89641	0.0:0.0:1.0:0.0	.	335;262;352;335;324;335	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	E	262;335;324;352;335;282;66	ENSP00000442228:G262E;ENSP00000323293:G335E;ENSP00000407130:G352E;ENSP00000451763:G335E;ENSP00000334170:G282E;ENSP00000451748:G66E	.	G	+	2	0	ZNF410	73457436	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.594000	0.82698	2.683000	0.91414	0.563000	0.77884	GGA	.		0.473	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188	Missense_Mutation	A	74387683	G	A	74387683	5	1	24	1	0	0	0	0	0	0	1	0	17938	1188	41	3	1034	3	ZNF410	14	74387683	Splice_Site	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	198137	74387683	32961857	662	3809											
PSMC1	5700	broad.mit.edu;bcgsc.ca	37	14	90736595	90736609	+	In_Frame_Del	DEL	CGCATCTTTCAGATT	CGCATCTTTCAGATT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:90736595_90736609delCGCATCTTTCAGATT	ENST00000261303.8	+	10	1190_1204	c.1087_1101delCGCATCTTTCAGATT	c.(1087-1101)cgcatctttcagattdel	p.RIFQI363del	PSMC1_ENST00000543772.2_In_Frame_Del_p.RIFQI290del	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|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)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GACGAAGAAGCGCATCTTTCAGATTCACACAAGCA	0.502																																					p.363_367del													.	PSMC1	27	0			c.1087_1101del						.																																			SO:0001651	inframe_deletion	5700	exon10			AAGAAGCGCATCT	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.1087_1101delCGCATCTTTCAGATT	14.37:g.90736595_90736609delCGCATCTTTCAGATT	ENSP00000261303:p.Arg363_Ile367del	68	0		28	6	NM_002802	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	In_Frame_Del	DEL	ENST00000261303.8	37	CCDS32139.1																																																																																			.		0.502	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		-	90736609	CGCATCTTTCAGATT	-	90736595	7	5	24	1	0	1	0	1	0	0	0	0	12727	768	27	0	1125	0	PSMC1	14	90736595	In_Frame_Del	DEL	CGCATCTTTCAGATT	TCGA-W5-AA39-01A-11D-A417-09	16348912	90736595	16612945	663	3810											
ASB2	51676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	94401066	94401066	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:94401066A>G	ENST00000315988.4	-	8	2188	c.1700T>C	c.(1699-1701)cTc>cCc	p.L567P	ASB2_ENST00000555019.1_Missense_Mutation_p.L615P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	567	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)		GGTGTCTAGGAGTTTTATACG	0.537																																					p.L615P													.	ASB2	71	0			c.T1844C						.						106	107	107					14																	94401066		2203	4300	6503	SO:0001583	missense	51676	exon10			TCTAGGAGTTTTA	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.1700T>C	14.37:g.94401066A>G	ENSP00000320675:p.Leu567Pro	81	2		58	25	NM_001202429	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787806	0.49997	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988	T;T	0.47869	0.83;0.83	5.16	5.16	0.70880	SOCS protein, C-terminal (3);	0.165190	0.39909	N	0.001236	T	0.71693	0.3370	M	0.87269	2.87	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.959	T	0.74396	-0.3679	10	0.36615	T	0.2	-17.7588	15.0105	0.71547	1.0:0.0:0.0:0.0	.	615;567	B4E166;Q96Q27	.;ASB2_HUMAN	P	615;583;567	ENSP00000451575:L615P;ENSP00000320675:L567P	ENSP00000320675:L567P	L	-	2	0	ASB2	93470819	0.977000	0.34250	1.000000	0.80357	0.985000	0.73830	2.384000	0.44362	1.951000	0.56629	0.402000	0.26972	CTC	.		0.537	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			G	94401066	A	G	94401066	3	3	24	1	0	0	0	0	1	0	0	0	1024	304	11	4	67	4	ASB2	14	94401066	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3664471	94401066	12948474	664	3811											
DICER1	23405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	95569702	95569703	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GA	GA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:95569702_95569703GA>AT	ENST00000526495.1	-	23	4321_4322	c.4030_4031TC>AT	c.(4030-4032)TCa>ATa	p.S1344I	DICER1_ENST00000541352.1_Missense_Mutation_p.S1344I|DICER1_ENST00000393063.1_Missense_Mutation_p.S1344I|DICER1_ENST00000343455.3_Missense_Mutation_p.S1344I|DICER1_ENST00000556045.1_Missense_Mutation_p.S242I|DICER1_ENST00000527414.1_Missense_Mutation_p.S1344I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1344	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				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)	p.S1344L(1)		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)		TCTCATATATGAAAGGCGGCCC	0.411			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.S1344I		.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	.	.	.	1	Substitution - Missense(1)	endometrium(1)	c.T4030A						.																																			SO:0001583	missense	23405	exon22	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	TATATGAAAGGCG	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.4030_4031delinsAT	14.37:g.95569702_95569703delinsAT	ENSP00000437256:p.Ser1344Ile	35	0		27	13	NM_030621	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	DNP	ENST00000526495.1	37	CCDS9931.1																																																																																			.		0.411	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			AT	95569703	GA	AT	95569702	3	1	24	1	0	0	0	0	1	0	0	0	4535	1294	45	3	1765	3	DICER1	14	95569702	Missense_Mutation	DNP	GA	TCGA-W5-AA39-01A-11D-A417-09	1168636	95569702	11779838	665	3812											
ZNF839	55778	bcgsc.ca	37	14	102800980	102800980	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:102800980G>T	ENST00000558850.1	+	4	1508	c.1158G>T	c.(1156-1158)atG>atT	p.M386I	ZNF839_ENST00000559185.1_Missense_Mutation_p.M386I|ZNF839_ENST00000442396.2_Missense_Mutation_p.M502I|ZNF839_ENST00000262236.5_Missense_Mutation_p.M386I	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	386							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						TTCTTCTGATGAAGGTGAGTA	0.398																																					p.M502I													.	ZNF839	41	0			c.G1506T						.						126	116	119					14																	102800980		1917	4134	6051	SO:0001583	missense	55778	exon4			TCTGATGAAGGTG	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.1158G>T	14.37:g.102800980G>T	ENSP00000453363:p.Met386Ile	80	0		56	4	NM_018335	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Translation_Start_Site	SNP	ENST00000558850.1	37	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698077	0.48307	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.20332	2.08;2.08	4.89	4.89	0.63831	.	0.984707	0.08295	N	0.967803	T	0.29684	0.0741	L	0.55990	1.75	0.28940	N	0.891059	P;P;P;P	0.47962	0.903;0.903;0.903;0.903	P;P;B;P	0.46275	0.51;0.51;0.31;0.51	T	0.13176	-1.0519	10	0.56958	D	0.05	.	11.8788	0.52562	0.0804:0.0:0.9196:0.0	.	502;386;265;386	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	I	502;386;54	ENSP00000399863:M502I;ENSP00000262236:M386I	ENSP00000262236:M386I	M	+	3	0	ZNF839	101870733	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.188000	0.58351	2.428000	0.82296	0.561000	0.74099	ATG	.		0.398	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		T	102800980	G	T	102800980	3	4	24	1	0	0	0	0	1	0	0	0	18236	1290	45	3	1520	3	ZNF839	14	102800980	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	7231278	102800980	4548560	666	3813											
RCOR1	23186	hgsc.bcm.edu	37	14	103173699	103173699	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:103173699G>A	ENST00000570597.1	+	5	501	c.501G>A	c.(499-501)atG>atA	p.M167I	RCOR1_ENST00000262241.6_Missense_Mutation_p.M170I			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	167	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						CTCTTGGGATGCTCTTCTGGC	0.348																																					p.M170I		.											.	.	.	0			c.G510A						.						116	116	116					14																	103173699		2203	4300	6503	SO:0001583	missense	23186	exon5			TGGGATGCTCTTC	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.501G>A	14.37:g.103173699G>A	ENSP00000459789:p.Met167Ile	69	0		45	3	NM_015156	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37		.	.	.	.	.	.	.	.	.	.	G	27.9	4.872915	0.91664	.	.	ENSG00000089902	ENST00000262241	.	.	.	4.98	4.98	0.66077	ELM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.70595	2.14	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.80353	-0.1418	9	0.87932	D	0	-24.1451	18.6211	0.91321	0.0:0.0:1.0:0.0	.	167	Q9UKL0	RCOR1_HUMAN	I	167	.	ENSP00000262241:M167I	M	+	3	0	RCOR1	102243452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.779000	0.99018	2.480000	0.83734	0.655000	0.94253	ATG	.		0.348	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		A	103173699	G	A	103173699	3	1	24	1	0	0	0	0	1	0	0	0	13227	1319	46	3	519	3	RCOR1	14	103173699	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	372719	103173699	4175841	667	3814											
CDC42BPB	9578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	103410551	103410551	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:103410551G>A	ENST00000361246.2	-	30	4373	c.4085C>T	c.(4084-4086)cCa>cTa	p.P1362L		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)		TCTGTGGAATGGCTTCGTTCT	0.577																																					p.P1362L		.											.	.	.	0			c.C4085T						.						71	68	69					14																	103410551		2203	4299	6502	SO:0001583	missense	9578	exon30			TGGAATGGCTTCG	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.4085C>T	14.37:g.103410551G>A	ENSP00000355237:p.Pro1362Leu	29	0		19	6	NM_006035		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414385	0.62511	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.04917	3.53	5.24	5.24	0.73138	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.69248	2.105	0.80722	D	1	B;B	0.17465	0.022;0.013	B;B	0.25140	0.058;0.036	T	0.04065	-1.0980	10	0.42905	T	0.14	.	19.1847	0.93639	0.0:0.0:1.0:0.0	.	1362;1362	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	L	1362;473	ENSP00000355237:P1362L	ENSP00000355237:P1362L	P	-	2	0	CDC42BPB	102480304	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.568000	0.98166	2.603000	0.88011	0.655000	0.94253	CCA	.		0.577	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		A	103410551	G	A	103410551	3	1	24	1	0	0	0	0	1	0	0	0	3080	1348	47	3	1082	3	CDC42BPB	14	103410551	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	236852	103410551	3938989	668	3815											
AHNAK2	113146	broad.mit.edu	37	14	105414880	105414880	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr14:105414880T>C	ENST00000333244.5	-	7	7027	c.6908A>G	c.(6907-6909)gAc>gGc	p.D2303G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2303						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)			CAGGGACATGTCCCCCTCCAG	0.602																																					p.D2303G													.	AHNAK2	719	0			c.A6908G						.						175	193	187					14																	105414880		2036	4197	6233	SO:0001583	missense	113146	exon7			GACATGTCCCCCT	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.6908A>G	14.37:g.105414880T>C	ENSP00000353114:p.Asp2303Gly	131	0		74	3	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	15.85	2.953458	0.53293	.	.	ENSG00000185567	ENST00000333244	T	0.01279	5.06	3.76	3.76	0.43208	.	.	.	.	.	T	0.03390	0.0098	M	0.87180	2.865	0.18873	N	0.999986	B	0.27765	0.188	B	0.27796	0.083	T	0.25779	-1.0122	9	0.26408	T	0.33	.	10.0825	0.42399	0.0:0.0:0.1682:0.8318	.	2303	Q8IVF2	AHNK2_HUMAN	G	2303	ENSP00000353114:D2303G	ENSP00000353114:D2303G	D	-	2	0	AHNAK2	104485925	0.770000	0.28543	0.018000	0.16275	0.025000	0.11179	3.465000	0.53064	1.329000	0.45376	0.254000	0.18369	GAC	.		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105414880	T	C	105414880	3	2	24	1	0	0	0	0	1	0	0	0	415	1667	58	4	10483	4	AHNAK2	14	105414880	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2004329	105414880	1934660	669	3816											
NDN	4692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	23931983	23931983	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:23931983C>T	ENST00000331837.4	-	1	467	c.382G>A	c.(382-384)Gtc>Atc	p.V128I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	128	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)		CTGCCGATGACATCTTTCACC	0.597									Prader-Willi syndrome																												p.V128I		.											.	.	.	0			c.G382A						.						90	84	86					15																	23931983		2203	4300	6503	SO:0001583	missense	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	CGATGACATCTTT	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.382G>A	15.37:g.23931983C>T	ENSP00000332643:p.Val128Ile	39	0		26	13	NM_002487	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024009	0.54683	.	.	ENSG00000182636	ENST00000331837	T	0.05513	3.43	3.87	2.94	0.34122	.	0.000000	0.64402	D	0.000001	T	0.06371	0.0164	N	0.13327	0.33	0.34848	D	0.741379	P	0.45715	0.865	P	0.54706	0.759	T	0.42531	-0.9446	10	0.19147	T	0.46	.	6.4168	0.21721	0.0:0.87:0.0:0.13	.	128	Q99608	NECD_HUMAN	I	128	ENSP00000332643:V128I	ENSP00000332643:V128I	V	-	1	0	NDN	21483076	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.263000	0.33004	2.110000	0.64415	0.561000	0.74099	GTC	.		0.597	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		T	23931983	C	T	23931983	3	4	24	1	0	0	0	0	1	0	0	0	10286	478	17	3	587	3	NDN	15	23931983	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09		23931983	78599409	670	3817											
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	33256352	33256352	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:33256352T>G	ENST00000559047.1	-	6	3093	c.3094A>C	c.(3094-3096)Aaa>Caa	p.K1032Q	FMN1_ENST00000561249.1_Missense_Mutation_p.K934Q|FMN1_ENST00000334528.9_Missense_Mutation_p.K809Q			Q68DA7	FMN1_HUMAN	formin 1	1032	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		GACAGAGGTTTTTTCTTCTGT	0.373																																					p.K809Q		.											.	.	.	0			c.A2425C						.						189	171	176					15																	33256352		1808	4068	5876	SO:0001583	missense	342184	exon5			GAGGTTTTTTCTT	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.3094A>C	15.37:g.33256352T>G	ENSP00000454047:p.Lys1032Gln	105	0		68	28	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	T	17.94	3.510684	0.64522	.	.	ENSG00000248905	ENST00000334528	T	0.19250	2.16	5.06	5.06	0.68205	.	0.046086	0.85682	D	0.000000	T	0.46386	0.1390	M	0.77616	2.38	0.21802	N	0.999536	D	0.59767	0.986	D	0.66351	0.943	T	0.59547	-0.7434	9	0.62326	D	0.03	.	14.8008	0.69913	0.0:0.0:0.0:1.0	.	809	Q68DA7-5	.	Q	809	ENSP00000333950:K809Q	ENSP00000333950:K809Q	K	-	1	0	FMN1	31043644	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	7.699000	0.84547	1.890000	0.54733	0.460000	0.39030	AAA	.		0.373	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		G	33256352	T	G	33256352	3	3	24	1	0	0	0	0	1	0	0	0	5971	1850	64	4	1217	4	FMN1	15	33256352	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	9324369	33256352	69275040	671	3818											
ZNF770	54989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	35274078	35274078	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:35274078T>G	ENST00000356321.4	-	3	1902	c.1558A>C	c.(1558-1560)Aga>Cga	p.R520R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	520					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)		TGTTCATGTCTTTTTAAGTGA	0.333																																					p.R520R		.											.	.	.	0			c.A1558C						.						61	62	62					15																	35274078		2201	4298	6499	SO:0001819	synonymous_variant	54989	exon3			CATGTCTTTTTAA	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.1558A>C	15.37:g.35274078T>G		72	0		41	16	NM_014106	Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	CCDS10042.1																																																																																			.		0.333	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		G	35274078	T	G	35274078	2	3	24	1	0	0	0	0	0	0	0	1	18191	1617	56	4		4	ZNF770	15	35274078	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2017726	35274078	67257314	672	3819											
MEIS2	4212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	37329152	37329152	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:37329152A>C	ENST00000561208.1	-	8	1181	c.763T>G	c.(763-765)Tta>Gta	p.L255V	MEIS2_ENST00000397620.2_Missense_Mutation_p.L167V|MEIS2_ENST00000338564.5_Missense_Mutation_p.L255V|MEIS2_ENST00000397624.3_Missense_Mutation_p.L167V|MEIS2_ENST00000559561.1_Missense_Mutation_p.L255V|MEIS2_ENST00000340545.5_Missense_Mutation_p.L242V|MEIS2_ENST00000219869.9_Missense_Mutation_p.L109V|MEIS2_ENST00000382766.2_Missense_Mutation_p.L255V|MEIS2_ENST00000559085.1_Missense_Mutation_p.L242V|MEIS2_ENST00000444725.1_Missense_Mutation_p.L255V|MEIS2_ENST00000424352.2_Missense_Mutation_p.L255V|MEIS2_ENST00000557796.2_Missense_Mutation_p.L242V			O14770	MEIS2_HUMAN	Meis homeobox 2	255	Asp/Glu-rich (acidic).				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTGTTGTCTAAACCATCCCCT	0.418																																					p.L255V		.											.	.	.	0			c.T763G						.						137	121	127					15																	37329152		2201	4297	6498	SO:0001583	missense	4212	exon8			TGTCTAAACCATC	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.763T>G	15.37:g.37329152A>C	ENSP00000453793:p.Leu255Val	80	0		45	16	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	A	2.882	-0.231572	0.05983	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;D;D;D;D;D;D;D	0.89415	1.87;-2.24;-2.24;-2.14;-2.2;-2.2;-2.2;-2.51	5.14	1.47	0.22746	.	0.000000	0.64402	D	0.000001	D	0.89812	0.6823	L	0.55834	1.745	0.58432	D	0.999991	B;D;P;P;B;B;P;B	0.54047	0.212;0.964;0.589;0.498;0.426;0.118;0.651;0.053	B;P;B;B;B;B;B;B	0.60789	0.059;0.879;0.223;0.23;0.053;0.034;0.424;0.04	D	0.85864	0.1412	10	0.33141	T	0.24	-5.3547	8.9998	0.36074	0.7828:0.0:0.2172:0.0	.	242;255;255;255;255;109;167;242	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	V	255;255;255;255;255;242;242;167;109	ENSP00000326296:L255V;ENSP00000341400:L255V;ENSP00000372216:L255V;ENSP00000404185:L255V;ENSP00000391887:L255V;ENSP00000339549:L242V;ENSP00000380745:L167V;ENSP00000219869:L109V	ENSP00000219869:L109V	L	-	1	2	MEIS2	35116444	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.343000	0.59348	0.343000	0.23821	0.528000	0.53228	TTA	.		0.418	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		C	37329152	A	C	37329152	3	2	24	1	0	0	0	0	1	0	0	0	9506	11	1	4	753	4	MEIS2	15	37329152	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2055074	37329152	65202240	673	3820											
C15orf52	388115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	40628778	40628778	+	Missense_Mutation	SNP	C	C	T	rs370895955		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:40628778C>T	ENST00000559313.1	-	9	1031	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	C15orf52_ENST00000397536.2_Missense_Mutation_p.R129Q	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	339							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)		CTGTTACCTTCGGGCCCTGCC	0.652																																					p.R339Q		.											C15orf52,right_lower_lobe,carcinoma,0,1	C15orf52	0	0			c.G1016A						.	C	GLN/ARG	0,4406		0,0,2203	89	84	86		1016	5.5	1	15		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	C15orf52	NM_207380.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	339/535	40628778	1,13005	2203	4300	6503	SO:0001583	missense	388115	exon9			TACCTTCGGGCCC	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.1016G>A	15.37:g.40628778C>T	ENSP00000453969:p.Arg339Gln	56	0		42	18	NM_207380	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	34	5.339046	0.95783	0.0	1.16E-4	ENSG00000188549	ENST00000382688;ENST00000397536	T	0.45668	0.89	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000015	T	0.63379	0.2506	M	0.71581	2.175	0.44234	D	0.997078	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.62909	-0.6754	10	0.46703	T	0.11	.	14.9467	0.71039	0.0:1.0:0.0:0.0	.	129;339	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	Q	339;129	ENSP00000380670:R129Q	ENSP00000372135:R339Q	R	-	2	0	C15orf52	38416070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.823000	0.48081	2.609000	0.88269	0.462000	0.41574	CGA	.		0.652	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		T	40628778	C	T	40628778	3	4	24	1	0	0	0	0	1	0	0	0	1805	884	31	1	600	1	C15orf52	15	40628778	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3299626	40628778	61902614	674	3821											
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu	37	15	42168834	42168834	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:42168834T>C	ENST00000320955.6	-	20	4090	c.3863A>G	c.(3862-3864)cAg>cGg	p.Q1288R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1288					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)		ACTCTGCAGCTGCTCTCTGAC	0.667																																					p.Q1253R		.											.	.	.	0			c.A3758G						.						22	25	24					15																	42168834		1991	4141	6132	SO:0001583	missense	51332	exon20			TGCAGCTGCTCTC	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.3863A>G	15.37:g.42168834T>C	ENSP00000317790:p.Gln1288Arg	14	0		19	11	NM_016642		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	0.170	-1.072753	0.01918	.	.	ENSG00000137877	ENST00000320955	T	0.41758	0.99	4.64	1.11	0.20524	.	0.262232	0.28470	N	0.015222	T	0.18383	0.0441	N	0.21142	0.635	0.09310	N	0.999997	B	0.14438	0.01	B	0.14023	0.01	T	0.21449	-1.0245	10	0.05721	T	0.95	.	2.3297	0.04232	0.2535:0.225:0.0:0.5215	.	1288	Q9NRC6	SPTN5_HUMAN	R	1288	ENSP00000317790:Q1288R	ENSP00000317790:Q1288R	Q	-	2	0	SPTBN5	39956126	0.022000	0.18835	0.991000	0.47740	0.529000	0.34654	-0.493000	0.06459	0.133000	0.18654	0.402000	0.26972	CAG	.		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		C	42168834	T	C	42168834	3	2	24	1	0	0	0	0	1	0	0	0	15169	1580	55	4	7357	4	SPTBN5	15	42168834	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1540056	42168834	60362558	675	3822											
PLA2G4D	283748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	42363325	42363325	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:42363325C>A	ENST00000290472.3	-	17	1966	c.1872G>T	c.(1870-1872)tgG>tgT	p.W624C		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	624	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|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)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCTGACCTGCCCAGGTGGAGA	0.647																																					p.W624C		.											.	.	.	0			c.G1872T						.						31	34	33					15																	42363325		2203	4297	6500	SO:0001583	missense	283748	exon17			ACCTGCCCAGGTG	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1872G>T	15.37:g.42363325C>A	ENSP00000290472:p.Trp624Cys	56	0		39	19	NM_178034	Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608083	0.66558	.	.	ENSG00000159337	ENST00000290472	T	0.17054	2.3	5.27	5.27	0.74061	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.082787	0.51477	D	0.000091	T	0.49762	0.1576	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58612	-0.7606	10	0.72032	D	0.01	-14.1271	16.6925	0.85325	0.0:1.0:0.0:0.0	.	624	Q86XP0	PA24D_HUMAN	C	624	ENSP00000290472:W624C	ENSP00000290472:W624C	W	-	3	0	PLA2G4D	40150617	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.158000	0.64917	2.471000	0.83476	0.655000	0.94253	TGG	.		0.647	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		A	42363325	C	A	42363325	3	1	24	1	0	0	0	0	1	0	0	0	12043	624	22	3	600	3	PLA2G4D	15	42363325	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	194491	42363325	60168067	676	3823											
B2M	567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	45007705	45007705	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:45007705A>C	ENST00000558401.1	+	2	222	c.152A>C	c.(151-153)cAt>cCt	p.H51P	B2M_ENST00000544417.1_Missense_Mutation_p.H51P|B2M_ENST00000559916.1_Missense_Mutation_p.H51P|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	51	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)		TCTGGGTTTCATCCATCCGAC	0.418																																					p.H51P		.											.	.	.	0			c.A152C						.						190	193	192					15																	45007705		2198	4298	6496	SO:0001583	missense	567	exon2			GGTTTCATCCATC	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.152A>C	15.37:g.45007705A>C	ENSP00000452780:p.His51Pro	109	0		55	18	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187758	0.78789	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.03065	4.06	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	H	0.94423	3.535	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.16217	-1.0410	10	0.87932	D	0	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	51;51;51	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	P	51	ENSP00000437604:H51P	ENSP00000340858:H51P	H	+	2	0	B2M	42794997	1.000000	0.71417	0.999000	0.59377	0.700000	0.40528	6.818000	0.75257	2.308000	0.77769	0.533000	0.62120	CAT	.		0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		C	45007705	A	C	45007705	3	2	24	1	0	0	0	0	1	0	0	0	1245	217	8	4	158	4	B2M	15	45007705	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2644380	45007705	57523687	677	3824											
SLC12A1	6557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	48580290	48580290	+	Nonsense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:48580290A>T	ENST00000558405.1	+	21	2694	c.2680A>T	c.(2680-2682)Aaa>Taa	p.K894*	SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.K894*|SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.K894*			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	894					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)	GTTCAACCAGAAACTGGTGGA	0.403																																					p.K894X		.											.	.	.	0			c.A2680T						.						64	60	62					15																	48580290		2198	4297	6495	SO:0001587	stop_gained	6557	exon22			AACCAGAAACTGG		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.2680A>T	15.37:g.48580290A>T	ENSP00000453409:p.Lys894*	78	0		56	24	NM_001184832	A8JYA2|E9PDW4	Nonsense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	37	6.201723	0.97371	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	.	.	.	5.87	4.68	0.58851	.	0.184455	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5503	0.56223	0.7584:0.2416:0.0:0.0	.	.	.	.	X	894	.	ENSP00000370381:K894X	K	+	1	0	SLC12A1	46367582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.663000	0.61532	2.371000	0.80710	0.533000	0.62120	AAA	.		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			T	48580290	A	T	48580290	4	4	24	1	0	0	0	0	0	1	0	0	14427	247	9	5	2862	5	SLC12A1	15	48580290	Nonsense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3572585	48580290	53951102	678	3825											
DMXL2	23312	hgsc.bcm.edu	37	15	51741202	51741202	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:51741202G>T	ENST00000251076.5	-	43	9377	c.9090C>A	c.(9088-9090)aaC>aaA	p.N3030K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.N2394K|DMXL2_ENST00000543779.2_Missense_Mutation_p.N3031K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	3030						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)		CAAGAATTCTGTTAGGGATGT	0.408																																					p.N3031K		.											DMXL2,bladder,carcinoma,0,1	DMXL2	0	0			c.C9093A						.						55	51	52					15																	51741202		2196	4293	6489	SO:0001583	missense	23312	exon43			AATTCTGTTAGGG	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.9090C>A	15.37:g.51741202G>T	ENSP00000251076:p.Asn3030Lys	63	0		32	2	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580689	0.28180	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.25414	1.93;1.93;1.8	5.6	-2.15	0.07102	.	1.305650	0.04866	N	0.445067	T	0.22244	0.0536	L	0.42245	1.32	0.09310	N	0.999996	B;B;B;B	0.32324	0.01;0.364;0.006;0.168	B;B;B;B	0.33121	0.022;0.077;0.01;0.158	T	0.35425	-0.9789	10	0.44086	T	0.13	.	7.4996	0.27509	0.417:0.0:0.4465:0.1365	.	3031;2394;3030;3031	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	K	3030;3031;2394;596	ENSP00000251076:N3030K;ENSP00000441858:N3031K;ENSP00000400855:N2394K	ENSP00000251076:N3030K	N	-	3	2	DMXL2	49528494	0.141000	0.22595	0.013000	0.15412	0.973000	0.67179	0.544000	0.23253	-0.320000	0.08640	-0.251000	0.11542	AAC	.		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51741202	G	T	51741202	3	4	24	1	0	0	0	0	1	0	0	0	4609	1368	48	3	24	3	DMXL2	15	51741202	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3160912	51741202	50790190	679	3826											
LEO1	123169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	52242142	52242142	+	Missense_Mutation	SNP	C	C	T	rs367614131		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:52242142C>T	ENST00000299601.5	-	10	1721	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	LEO1_ENST00000315141.5_Missense_Mutation_p.R494H	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	554					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|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)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCTCATTCGGCGCTGCTGAGA	0.498																																					p.R554H	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	.											.	.	.	0			c.G1661A						.	C	HIS/ARG	0,4390		0,0,2195	73	66	68		1661	5.7	1	15		68	1,8585		0,1,4292	no	missense	LEO1	NM_138792.2	29	0,1,6487	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	554/667	52242142	1,12975	2195	4293	6488	SO:0001583	missense	123169	exon10			ATTCGGCGCTGCT	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1661G>A	15.37:g.52242142C>T	ENSP00000299601:p.Arg554His	47	0		34	18	NM_138792	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	.	35	5.551873	0.96501	0.0	1.16E-4	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.71	5.71	0.89125	.	0.097400	0.64402	D	0.000003	T	0.79540	0.4463	M	0.73430	2.235	0.80722	D	1	P;D	0.89917	0.782;1.0	B;D	0.67231	0.336;0.95	T	0.79862	-0.1624	9	0.56958	D	0.05	.	19.8505	0.96738	0.0:1.0:0.0:0.0	.	494;554	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	H	554;532;494	.	ENSP00000299601:R554H	R	-	2	0	LEO1	50029434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.703000	0.84585	2.688000	0.91661	0.655000	0.94253	CGC	.		0.498	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		T	52242142	C	T	52242142	3	4	24	1	0	0	0	0	1	0	0	0	8754	768	27	1	351	1	LEO1	15	52242142	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	500940	52242142	50289250	680	3827											
CLPX	10845	bcgsc.ca	37	15	65447200	65447212	+	Frame_Shift_Del	DEL	CATCTAGGCTATG	CATCTAGGCTATG	-	rs141503742		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CATCTAGGCTATG	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:65447200_65447212delCATCTAGGCTATG	ENST00000300107.3	-	11	1707_1719	c.1519_1531delCATAGCCTAGATG	c.(1519-1533)catagcctagatgagfs	p.HSLDE507fs		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	507					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGTGTTTTCTCATCTAGGCTATGCAATGGAACC	0.408																																					p.507_511del													.	CLPX	49	0			c.1519_1531del						.																																			SO:0001589	frameshift_variant	10845	exon11			TTTTCTCATCTAG	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1519_1531delCATAGCCTAGATG	15.37:g.65447200_65447212delCATCTAGGCTATG	ENSP00000300107:p.His507fs	61	0		30	3	NM_006660	A1L428|A8K8F1|B9EGI8|Q9H4D9	Frame_Shift_Del	DEL	ENST00000300107.3	37	CCDS10202.1																																																																																			.		0.408	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		-	65447212	CATCTAGGCTATG	-	65447200	7	5	24	1	0	1	0	1	0	0	0	0	3563	835	29	0	386	0	CLPX	15	65447200	Frame_Shift_Del	DEL	CATCTAGGCTATG	TCGA-W5-AA39-01A-11D-A417-09	13205058	65447200	37084192	681	3828											
IMP3	55272	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	75932170	75932170	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:75932170C>T	ENST00000314852.2	-	2	1283	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000403490.1_Missense_Mutation_p.V114M|CTD-2026K11.2_ENST00000564683.1_RNA			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	0	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						TTGAGGAGCACGGTGGGGAGG	0.682																																					p.V114M		.											.	.	.	0			c.G340A						.						24	25	25					15																	75932170		2197	4286	6483	SO:0001583	missense	55272	exon1			GGAGCACGGTGGG	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.340G>A	15.37:g.75932170C>T	ENSP00000326981:p.Val114Met	37	0		23	10	NM_018285	B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090834	0.76756	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	T;T	0.50277	0.75;0.75	5.65	4.71	0.59529	RNA-binding S4 (4);	0.208959	0.43579	D	0.000559	T	0.45337	0.1337	L	0.58669	1.825	0.41969	D	0.99074	P	0.50943	0.94	B	0.42995	0.404	T	0.49322	-0.8952	10	0.49607	T	0.09	-15.7935	11.4299	0.50034	0.1865:0.8135:0.0:0.0	.	114	Q9NV31	IMP3_HUMAN	M	114	ENSP00000326981:V114M;ENSP00000385217:V114M	ENSP00000326981:V114M	V	-	1	0	IMP3	73719225	0.998000	0.40836	0.997000	0.53966	0.636000	0.38137	1.506000	0.35747	1.564000	0.49628	0.655000	0.94253	GTG	.		0.682	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		T	75932170	C	T	75932170	3	4	24	1	0	0	0	0	1	0	0	0	7746	536	19	1	218	1	IMP3	15	75932170	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	10484970	75932170	26599222	682	3829											
CSPG4	1464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	75968341	75968341	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:75968341C>T	ENST00000308508.5	-	10	6611	c.6519G>A	c.(6517-6519)gtG>gtA	p.V2173V	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2173	Cysteine-containing.|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						TGAGCAGGGCCACGCTGTAGG	0.682																																					p.V2173V		.											.	.	.	0			c.G6519A						.						18	18	18					15																	75968341		2192	4291	6483	SO:0001819	synonymous_variant	1464	exon10			CAGGGCCACGCTG	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.6519G>A	15.37:g.75968341C>T		50	0		36	18	NM_001897	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			.		0.682	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75968341	C	T	75968341	2	4	24	1	0	0	0	0	0	0	0	1	3969	581	21	3		3	CSPG4	15	75968341	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	36171	75968341	26563051	683	3830											
ISL2	64843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	76632810	76632810	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:76632810C>A	ENST00000290759.4	+	4	865	c.705C>A	c.(703-705)atC>atA	p.I235I	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	235					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CGCGGGTCATCCGCGTCTGGT	0.622																																					p.I235I	GBM(97;953 1391 16164 31496 36951)	.											.	.	.	0			c.C705A						.						35	40	38					15																	76632810		2196	4291	6487	SO:0001819	synonymous_variant	64843	exon4			GGTCATCCGCGTC	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.705C>A	15.37:g.76632810C>A		71	0		63	21	NM_145805	B3KM37	Silent	SNP	ENST00000290759.4	37	CCDS10290.1																																																																																			.		0.622	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			A	76632810	C	A	76632810	2	1	24	1	0	0	0	0	0	0	0	1	7884	845	30	3		3	ISL2	15	76632810	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	664469	76632810	25898582	684	3831											
SGK269	79834	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	77450866	77450885	+	Frame_Shift_Del	DEL	TACAAGGGTTCGGGTCCATA	TACAAGGGTTCGGGTCCATA	-	rs555412505		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	TACAAGGGTTCGGGTCCATA	TACAAGGGTTCGGGTCCATA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:77450866_77450885delTACAAGGGTTCGGGTCCATA	ENST00000560626.2	-	5	3766_3785	c.3291_3310delTATGGACCCGAACCCTTGTA	c.(3289-3312)cctatggacccgaacccttgtagtfs	p.MDPNPCS1098fs	PEAK1_ENST00000312493.4_Frame_Shift_Del_p.MDPNPCS1098fs			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1098					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)										TATGTTGCACTACAAGGGTTCGGGTCCATAGGATCTGAAA	0.427																																					p.1098_1104del		.											.	.	.	0			c.3292_3311del						.																																			SO:0001589	frameshift_variant	0	exon6			TTGCACTACAAGG		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.3291_3310delTATGGACCCGAACCCTTGTA	15.37:g.77450866_77450885delTACAAGGGTTCGGGTCCATA	ENSP00000452796:p.Met1098fs	86	0		47	13	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Frame_Shift_Del	DEL	ENST00000560626.2	37	CCDS42062.1																																																																																			.		0.427	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			-	77450885	TACAAGGGTTCGGGTCCATA	-	77450866	7	5	24	1	0	1	0	1	0	0	0	0	14256	1522	53	0	1942	0	SGK269	15	77450866	Frame_Shift_Del	DEL	TACAAGGGTTCGGGTCCATA	TCGA-W5-AA39-01A-11D-A417-09	818056	77450866	25080526	685	3832											
WDR61	80349	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	78582401	78582401	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:78582401A>G	ENST00000267973.2	-	6	631	c.360T>C	c.(358-360)taT>taC	p.Y120Y	WDR61_ENST00000558311.1_Silent_p.Y120Y|WDR61_ENST00000558459.1_Silent_p.Y27Y			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	120					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|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)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTGTGGCCAGATACTGGGAAT	0.393																																					p.Y120Y		.											.	.	.	0			c.T360C						.						52	48	49					15																	78582401		2196	4293	6489	SO:0001819	synonymous_variant	80349	exon6			GGCCAGATACTGG		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.360T>C	15.37:g.78582401A>G		76	0		49	25	NM_025234	D3DW84|Q6IA22|Q7Z4X4	Silent	SNP	ENST00000267973.2	37	CCDS10300.1																																																																																			.		0.393	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		G	78582401	A	G	78582401	2	3	24	1	0	0	0	0	0	0	0	1	17361	340	12	4		4	WDR61	15	78582401	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1131535	78582401	23948991	686	3833											
IREB2	3658	hgsc.bcm.edu	37	15	78770699	78770699	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:78770699G>T	ENST00000258886.8	+	10	1405	c.1256G>T	c.(1255-1257)cGa>cTa	p.R419L	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	419					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.R419Q(3)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAATTGTTTCGAAATGACCAG	0.393																																					p.R419L	NSCLC(200;764 2208 35157 49871 50830)	.											IREB2,rectum,carcinoma,0,3	IREB2	0	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)	c.G1256T						.						92	90	90					15																	78770699		2196	4293	6489	SO:0001583	missense	3658	exon10			TGTTTCGAAATGA	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1256G>T	15.37:g.78770699G>T	ENSP00000258886:p.Arg419Leu	61	0		38	2	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461827	0.84425	.	.	ENSG00000136381	ENST00000258886	T	0.16597	2.33	5.37	4.38	0.52667	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.101689	0.64402	D	0.000004	T	0.43853	0.1266	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.46317	-0.9200	10	0.62326	D	0.03	-15.4669	11.2102	0.48793	0.0954:0.0:0.9046:0.0	.	419	P48200	IREB2_HUMAN	L	419	ENSP00000258886:R419L	ENSP00000258886:R419L	R	+	2	0	IREB2	76557754	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	5.168000	0.64978	1.249000	0.43950	0.591000	0.81541	CGA	.		0.393	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		T	78770699	G	T	78770699	3	4	24	1	0	0	0	0	1	0	0	0	7853	1058	37	2	1294	2	IREB2	15	78770699	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	188298	78770699	23760693	687	3834											
ZFAND6	54469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	80429825	80429825	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:80429825T>G	ENST00000261749.6	+	7	904	c.482T>G	c.(481-483)tTt>tGt	p.F161C	ZFAND6_ENST00000559775.1_Missense_Mutation_p.F161C|ZFAND6_ENST00000559157.1_Missense_Mutation_p.F149C|ZFAND6_ENST00000558494.1_Missense_Mutation_p.F161C|ZFAND6_ENST00000561060.1_Missense_Mutation_p.F161C|ZFAND6_ENST00000559835.1_Missense_Mutation_p.F161C|ZFAND6_ENST00000558087.1_Missense_Mutation_p.F161C	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	161					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTTCCAGGGTTTGAATGCCGG	0.383																																					p.F161C		.											.	.	.	0			c.T482G						.						121	103	109					15																	80429825		2203	4300	6503	SO:0001583	missense	54469	exon8			CAGGGTTTGAATG	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"Zinc fingers, AN1-type domain containing"	30164	protein-coding gene	gene with protein product	"protein associated with PRK1"	610183	"zinc finger, A20 domain containing 3"	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.482T>G	15.37:g.80429825T>G	ENSP00000261749:p.Phe161Cys	57	0		43	18	NM_001242913	D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705869	0.68615	.	.	ENSG00000086666	ENST00000261749	T	0.51325	0.71	5.23	5.23	0.72850	Zinc finger, AN1-type (4);	0.075689	0.53938	D	0.000047	T	0.77274	0.4106	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84463	0.0595	10	0.87932	D	0	.	15.4457	0.75228	0.0:0.0:0.0:1.0	.	149;161	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	C	161	ENSP00000261749:F161C	ENSP00000261749:F161C	F	+	2	0	ZFAND6	78216880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.785000	0.68998	2.107000	0.64212	0.533000	0.62120	TTT	.		0.383	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		G	80429825	T	G	80429825	3	3	24	1	0	0	0	0	1	0	0	0	17679	1841	64	4	500	4	ZFAND6	15	80429825	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1659126	80429825	22101567	688	3835											
FAH	2184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	80464579	80464579	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:80464579A>G	ENST00000407106.1	+	9	850	c.695A>G	c.(694-696)aAc>aGc	p.N232S	FAH_ENST00000561421.1_Missense_Mutation_p.N232S|FAH_ENST00000261755.5_Missense_Mutation_p.N232S|FAH_ENST00000539156.1_Missense_Mutation_p.N162S|FAH_ENST00000558627.1_3'UTR			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	232					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						GTCCTTATGAACGACTGGAGT	0.512									Tyrosinemia, type 1																												p.N232S		.											.	.	.	0			c.A695G						.						88	85	86					15																	80464579		2203	4300	6503	SO:0001583	missense	2184	exon8	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	TTATGAACGACTG	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.695A>G	15.37:g.80464579A>G	ENSP00000385080:p.Asn232Ser	43	0		24	11	NM_000137	B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	ENST00000407106.1	37	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612343	0.66672	.	.	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	D;D;D	0.96685	-4.09;-4.09;-4.09	4.87	4.87	0.63330	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99521	1.0958	10	0.87932	D	0	-35.0169	13.4495	0.61163	1.0:0.0:0.0:0.0	.	232	P16930	FAAA_HUMAN	S	232;232;162	ENSP00000385080:N232S;ENSP00000261755:N232S;ENSP00000454271:N162S	ENSP00000261755:N232S	N	+	2	0	FAH	78251634	1.000000	0.71417	0.999000	0.59377	0.561000	0.35649	8.320000	0.89995	1.831000	0.53308	0.459000	0.35465	AAC	.		0.512	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			G	80464579	A	G	80464579	3	3	24	1	0	0	0	0	1	0	0	0	5390	43	2	4	725	4	FAH	15	80464579	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	34754	80464579	22066813	689	3836											
STARD5	80765	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	81614763	81614763	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:81614763G>C	ENST00000302824.6	-	3	293	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	90	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GTGATGCTTTGGATAATTTCA	0.488																																					p.Q90E		.											.	.	.	0			c.C268G						.						148	126	134					15																	81614763		2203	4300	6503	SO:0001583	missense	80765	exon3			TGCTTTGGATAAT	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"StAR-related lipid transfer (START) domain containing"	18065	protein-coding gene	gene with protein product		607050	"START domain containing 5"			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.268C>G	15.37:g.81614763G>C	ENSP00000304032:p.Gln90Glu	63	0		29	17	NM_181900	P59094	Missense_Mutation	SNP	ENST00000302824.6	37	CCDS10318.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.020659	0.00418	.	.	ENSG00000172345	ENST00000302824	T	0.80824	-1.42	5.51	-5.63	0.02474	Lipid-binding START (3);START-like domain (1);	0.327500	0.31290	N	0.007905	T	0.56077	0.1961	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	10	0.02654	T	1	-13.3989	24.4124	0.99990	0.0:0.5498:0.4502:0.0	.	90	Q9NSY2	STAR5_HUMAN	E	90	ENSP00000304032:Q90E	ENSP00000304032:Q90E	Q	-	1	0	STARD5	79401818	0.384000	0.25164	0.000000	0.03702	0.025000	0.11179	0.704000	0.25661	-0.828000	0.04273	-0.156000	0.13503	CAA	.		0.488	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			C	81614763	G	C	81614763	3	2	24	1	0	0	0	0	1	0	0	0	15307	1357	47	5	389	5	STARD5	15	81614763	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1150184	81614763	20916629	690	3837											
AP3S2	10239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	90431760	90431760	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:90431760A>G	ENST00000336418.4	-	3	658	c.266T>C	c.(265-267)cTc>cCc	p.L89P	AP3S2_ENST00000560940.1_Missense_Mutation_p.L89P|C15orf38-AP3S2_ENST00000560224.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L290P|AP3S2_ENST00000558011.1_Missense_Mutation_p.L89P|RNU6-1111P_ENST00000391118.1_RNA	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	89					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TACCTGGATGAGGTCCAAGAT	0.453																																					p.L290P		.											.	.	.	0			c.T869C						.						79	73	75					15																	90431760		2200	4299	6499	SO:0001583	missense	100526783	exon7			TGGATGAGGTCCA	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.266T>C	15.37:g.90431760A>G	ENSP00000338777:p.Leu89Pro	56	0		20	12	NM_001199058	B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628898	0.87560	.	.	ENSG00000157823;ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000423566;ENST00000398333	T;T	0.55760	0.57;0.5	5.56	5.56	0.83823	Longin-like (1);AP complex, mu/sigma subunit (1);	0.152719	0.45126	D	0.000383	T	0.82250	0.4996	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88386	0.3005	10	0.87932	D	0	-17.3722	13.6945	0.62569	1.0:0.0:0.0:0.0	.	290;89	E2QRD5;P59780	.;AP3S2_HUMAN	P	89;89;290	ENSP00000338777:L89P;ENSP00000381377:L290P	ENSP00000338777:L89P	L	-	2	0	C15orf38-AP3S2;AP3S2	88232764	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.617000	0.90927	2.330000	0.79161	0.533000	0.62120	CTC	.		0.453	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			G	90431760	A	G	90431760	3	3	24	1	0	0	0	0	1	0	0	0	750	304	11	4	331	4	AP3S2	15	90431760	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	8816997	90431760	12099632	691	3838	35	2									
AP3S2	10239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	90431767	90431767	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr15:90431767A>C	ENST00000336418.4	-	3	651	c.259T>G	c.(259-261)Ttg>Gtg	p.L87V	AP3S2_ENST00000560940.1_Missense_Mutation_p.L87V|C15orf38-AP3S2_ENST00000560224.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L288V|AP3S2_ENST00000558011.1_Missense_Mutation_p.L87V|RNU6-1111P_ENST00000391118.1_RNA	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	87					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ATGAGGTCCAAGATTCCAAGT	0.453																																					p.L288V		.											.	.	.	0			c.T862G						.						81	76	78					15																	90431767		2200	4299	6499	SO:0001583	missense	100526783	exon7			GGTCCAAGATTCC	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.259T>G	15.37:g.90431767A>C	ENSP00000338777:p.Leu87Val	60	0		23	19	NM_001199058	B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924103	0.73213	.	.	ENSG00000157823;ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000423566;ENST00000398333	T;T	0.57595	0.46;0.39	5.56	4.44	0.53790	Longin-like (1);AP complex, mu/sigma subunit (1);	0.098040	0.44902	D	0.000415	T	0.78201	0.4246	H	0.97682	4.055	0.26507	N	0.974663	D;D	0.64830	0.993;0.994	D;D	0.67548	0.952;0.927	T	0.73845	-0.3854	10	0.87932	D	0	-24.0644	6.806	0.23779	0.8257:0.0:0.1743:0.0	.	288;87	E2QRD5;P59780	.;AP3S2_HUMAN	V	87;87;288	ENSP00000338777:L87V;ENSP00000381377:L288V	ENSP00000338777:L87V	L	-	1	2	C15orf38-AP3S2;AP3S2	88232771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.747000	0.38298	1.130000	0.42092	0.533000	0.62120	TTG	.		0.453	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			C	90431767	A	C	90431767	3	2	24	1	0	0	0	0	1	0	0	0	750	69	3	4	338	4	AP3S2	15	90431767	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7	90431767	12099625	692	3839	35	2									
PDIA2	64714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	334725	334725	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:334725T>C	ENST00000219406.6	+	3	491	c.473T>C	c.(472-474)cTg>cCg	p.L158P	PDIA2_ENST00000404312.1_Missense_Mutation_p.L158P	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	158					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)				GCCATGCGGCTGGAGGACGAG	0.716																																					p.L158P		.											.	.	.	0			c.T473C						.						8	14	12					16																	334725		2050	4127	6177	SO:0001583	missense	64714	exon3			TGCGGCTGGAGGA	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.473T>C	16.37:g.334725T>C	ENSP00000219406:p.Leu158Pro	22	0		19	5	NM_006849	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.07|14.07	2.426712|2.426712	0.43020|0.43020	.|.	.|.	ENSG00000185615|ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312|ENST00000456379	T;T|.	0.04156|.	3.69;3.72|.	3.75|3.75	3.75|3.75	0.43078|0.43078	Thioredoxin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.79770|0.79770	0.4503|0.4503	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77557|.	0.99|.	D|D	0.83707|0.83707	0.0185|0.0185	10|5	0.66056|.	D|.	0.02|.	.|.	11.5573|11.5573	0.50755|0.50755	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	158|.	Q13087|.	PDIA2_HUMAN|.	P|R	158;127;158|155	ENSP00000219406:L158P;ENSP00000384410:L158P|.	ENSP00000219406:L158P|.	L|W	+|+	2|1	0|0	PDIA2|PDIA2	274726|274726	1.000000|1.000000	0.71417|0.71417	0.760000|0.760000	0.31359|0.31359	0.185000|0.185000	0.23345|0.23345	3.419000|3.419000	0.52728|0.52728	1.567000|1.567000	0.49668|0.49668	0.375000|0.375000	0.23000|0.23000	CTG|TGG	.		0.716	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		C	334725	T	C	334725	3	2	24	1	0	0	0	0	1	0	0	0	11707	1580	55	4	483	4	PDIA2	16	334725	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09		334725	90020028	693	3840											
BAIAP3	8938	hgsc.bcm.edu	37	16	1393405	1393430	+	Frame_Shift_Del	DEL	TCAGCAGCCGCCACCATCAAACCTGC	TCAGCAGCCGCCACCATCAAACCTGC	-	rs576394425|rs545400434|rs199910590		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	TCAGCAGCCGCCACCATCAAACCTGC	TCAGCAGCCGCCACCATCAAACCTGC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:1393405_1393430delTCAGCAGCCGCCACCATCAAACCTGC	ENST00000324385.5	+	15	1540_1565	c.1382_1407delTCAGCAGCCGCCACCATCAAACCTGC	c.(1381-1407)gtcagcagccgccaccatcaaacctgcfs	p.VSSRHHQTC461fs	BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.VSSRHHQTC443fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.VSSRHHQTC403fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.VSSRHHQTC390fs|BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.VSSRHHQTC398fs|BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.VSSRHHQTC426fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.VSSRHHQTC443fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	461					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)				CACTGGCAGGTCAGCAGCCGCCACCATCAAACCTGCACGCTGGACT	0.65																																					p.461_469del		.											.	.	.	0			c.1381_1406del						.																																			SO:0001589	frameshift_variant	8938	exon15			GGCAGGTCAGCAG	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.1382_1407delTCAGCAGCCGCCACCATCAAACCTGC	16.37:g.1393405_1393430delTCAGCAGCCGCCACCATCAAACCTGC	ENSP00000324510:p.Val461fs	95	0		50	0	NM_003933	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Frame_Shift_Del	DEL	ENST00000324385.5	37	CCDS10434.1																																																																																			.		0.65	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			-	1393430	TCAGCAGCCGCCACCATCAAACCTGC	-	1393405	7	5	24	1	0	1	0	1	0	0	0	0	1305	1667	58	0	1440	0	BAIAP3	16	1393405	Frame_Shift_Del	DEL	TCAGCAGCCGCCACCATCAAACCTGC	TCGA-W5-AA39-01A-11D-A417-09	1058680	1393405	88961348	694	3841	36	2									
BAIAP3	8938	bcgsc.ca	37	16	1393409	1393430	+	Frame_Shift_Del	DEL	CAGCCGCCACCATCAAACCTGC	CAGCCGCCACCATCAAACCTGC	-	rs576394425|rs545400434		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CAGCCGCCACCATCAAACCTGC	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:1393409_1393430delCAGCCGCCACCATCAAACCTGC	ENST00000324385.5	+	15	1544_1565	c.1386_1407delCAGCCGCCACCATCAAACCTGC	c.(1384-1407)agcagccgccaccatcaaacctgcfs	p.SSRHHQTC462fs	BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.SSRHHQTC444fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.SSRHHQTC404fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.SSRHHQTC391fs|BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.SSRHHQTC399fs|BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.SSRHHQTC427fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.SSRHHQTC444fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	462					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)				GGCAGGTCAGCAGCCGCCACCATCAAACCTGCACGCTGGACT	0.649																																					p.462_469del													.	BAIAP3	88	0			c.1386_1407del						.																																			SO:0001589	frameshift_variant	8938	exon15			GGTCAGCAGCCGC	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.1386_1407delCAGCCGCCACCATCAAACCTGC	16.37:g.1393409_1393430delCAGCCGCCACCATCAAACCTGC	ENSP00000324510:p.Ser462fs	67	0		26	3	NM_003933	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Frame_Shift_Del	DEL	ENST00000324385.5	37	CCDS10434.1																																																																																			.		0.649	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			-	1393430	CAGCCGCCACCATCAAACCTGC	-	1393409	7	5	24	1	0	1	0	1	0	0	0	0	1305	709	25	0	1444	0	BAIAP3	16	1393409	Frame_Shift_Del	DEL	CAGCCGCCACCATCAAACCTGC	TCGA-W5-AA39-01A-11D-A417-09	4	1393409	88961344	695	3842	36	2									
NDUFB10	4716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2011155	2011155	+	Splice_Site	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:2011155A>C	ENST00000268668.6	+	2	249	c.132A>C	c.(130-132)gaA>gaC	p.E44D	NDUFB10_ENST00000569148.1_Splice_Site_p.E44D|SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000543683.2_Splice_Site_p.E44D|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	44					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)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						TCTTTGCAGAATTTATAGAGC	0.493																																					p.E44D		.											.	.	.	0			c.A132C						.						63	58	60					16																	2011155		2199	4300	6499	SO:0001630	splice_region_variant	4716	exon2			TGCAGAATTTATA	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.131-1A>C	16.37:g.2011155A>C		69	0		60	20	NM_004548	Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	A	7.877	0.729356	0.15507	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	4.74	-3.88	0.04205	.	0.235418	0.44285	D	0.000475	T	0.20373	0.0490	L	0.33293	1	0.29367	N	0.864295	B;B	0.15930	0.015;0.015	B;B	0.16289	0.01;0.015	T	0.03240	-1.1057	9	0.35671	T	0.21	.	0.7203	0.00939	0.2703:0.2951:0.2324:0.2022	.	44;44	Q96II6;O96000	.;NDUBA_HUMAN	D	44	.	ENSP00000268668:E44D	E	+	3	2	NDUFB10	1951156	0.080000	0.21391	0.985000	0.45067	0.171000	0.22731	-0.802000	0.04545	-0.200000	0.10300	-0.468000	0.05107	GAA	.		0.493	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548	Missense_Mutation	C	2011155	A	C	2011155	5	2	24	1	0	0	0	0	0	0	1	0	10318	115	4	4	138	4	NDUFB10	16	2011155	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	617746	2011155	88343598	696	3843											
NOXO1	124056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2030477	2030477	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:2030477A>G	ENST00000397280.4	-	4	310	c.307T>C	c.(307-309)Tat>Cat	p.Y103H	TBL3_ENST00000568546.1_3'UTR|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Missense_Mutation_p.Y98H|NOXO1_ENST00000354249.4_Missense_Mutation_p.Y97H|NOXO1_ENST00000566005.1_Missense_Mutation_p.Y102H			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	103	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)	CTCCGAGAATAGGTTTCCAAC	0.652																																					p.Y103H	Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	.											.	.	.	0			c.T307C						.						18	24	22					16																	2030477		2189	4282	6471	SO:0001583	missense	124056	exon4			GAGAATAGGTTTC	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.307T>C	16.37:g.2030477A>G	ENSP00000380450:p.Tyr103His	54	0		25	16	NM_172168	Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.522095	0.64747	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.80033	-1.33;0.29;0.29	5.12	5.12	0.69794	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.90082	3.085	0.58432	D	0.99999	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	0.92435	0.5957	10	0.87932	D	0	-19.9999	12.6575	0.56795	1.0:0.0:0.0:0.0	.	102;97;98;103	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	H	97;98;103	ENSP00000346195:Y97H;ENSP00000348435:Y98H;ENSP00000380450:Y103H	ENSP00000346195:Y97H	Y	-	1	0	NOXO1	1970478	0.695000	0.27747	0.615000	0.29064	0.076000	0.17211	3.000000	0.49481	1.920000	0.55613	0.459000	0.35465	TAT	.		0.652	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			G	2030477	A	G	2030477	3	3	24	1	0	0	0	0	1	0	0	0	10600	420	15	4	843	4	NOXO1	16	2030477	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	19322	2030477	88324276	697	3844											
ZNF598	90850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	2052709	2052709	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:2052709A>G	ENST00000563630.1	-	4	567	c.325T>C	c.(325-327)Tac>Cac	p.Y109H	ZNF598_ENST00000431526.1_Missense_Mutation_p.Y164H|ZNF598_ENST00000562103.1_Missense_Mutation_p.Y109H			Q86UK7	ZN598_HUMAN	zinc finger protein 598	164							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						TTGCGCGAGTACCACTTGCGC	0.642																																					p.Y164H		.											.	.	.	0			c.T490C						.						31	35	34					16																	2052709		2120	4240	6360	SO:0001583	missense	90850	exon6			GCGAGTACCACTT	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.325T>C	16.37:g.2052709A>G	ENSP00000455882:p.Tyr109His	10	0		18	12	NM_178167	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	25.4	4.635300	0.87760	.	.	ENSG00000167962	ENST00000431526	T	0.14893	2.47	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51458	-0.8703	10	0.87932	D	0	-32.4357	13.8277	0.63361	1.0:0.0:0.0:0.0	.	164	Q86UK7	ZN598_HUMAN	H	164	ENSP00000411409:Y164H	ENSP00000411409:Y164H	Y	-	1	0	ZNF598	1992710	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.905000	0.92613	1.871000	0.54225	0.459000	0.35465	TAC	.		0.642	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		G	2052709	A	G	2052709	3	3	24	1	0	0	0	0	1	0	0	0	18076	391	14	4	2260	4	ZNF598	16	2052709	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	22232	2052709	88302044	698	3845											
CASKIN1	57524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2233907	2233907	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:2233907G>T	ENST00000343516.6	-	15	1544	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	484	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCTGCAGCTGGAACGCGGTGA	0.682																																					p.F484L		.											.	.	.	0			c.C1452A						.						34	44	41					16																	2233907		2144	4270	6414	SO:0001583	missense	57524	exon15			CAGCTGGAACGCG	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.1452C>A	16.37:g.2233907G>T	ENSP00000345436:p.Phe484Leu	78	0		51	21	NM_020764	Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782902	0.49891	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.37915	1.17	4.01	3.05	0.35203	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.	.	.	.	T	0.37237	0.0996	N	0.16098	0.37	0.54753	D	0.999986	D	0.76494	0.999	D	0.71656	0.974	T	0.26292	-1.0107	9	0.72032	D	0.01	-14.3793	7.7754	0.29035	0.1941:0.0:0.8059:0.0	.	484	Q8WXD9	CSKI1_HUMAN	L	484;313	ENSP00000345436:F484L	ENSP00000345436:F484L	F	-	3	2	CASKIN1	2173908	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	4.786000	0.62425	1.030000	0.39839	0.297000	0.19635	TTC	.		0.682	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		T	2233907	G	T	2233907	3	4	24	1	0	0	0	0	1	0	0	0	2673	1165	41	3	2867	3	CASKIN1	16	2233907	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	181198	2233907	88120846	699	3846											
RNPS1	10921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	2314620	2314620	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:2314620T>C	ENST00000565678.1	-	2	570	c.25A>G	c.(25-27)Aag>Gag	p.K9E	RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000320225.5_Missense_Mutation_p.K9E|RNPS1_ENST00000301730.8_Missense_Mutation_p.K9E|RNPS1_ENST00000568631.1_Missense_Mutation_p.K9E|RNPS1_ENST00000566397.1_5'Flank|RNPS1_ENST00000569598.2_Missense_Mutation_p.K9E|RNPS1_ENST00000561718.1_Intron|RNPS1_ENST00000566458.1_Intron|RNPS1_ENST00000397086.2_Missense_Mutation_p.K9E			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	9	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				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						AGCAAGCTCTTCTTTTTCACT	0.423																																					p.K9E		.											.	.	.	0			c.A25G						.						122	118	120					16																	2314620		2198	4300	6498	SO:0001583	missense	10921	exon2			AGCTCTTCTTTTT	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.25A>G	16.37:g.2314620T>C	ENSP00000457723:p.Lys9Glu	18	0		26	16	NM_006711	A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208799	0.58343	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.07021	3.23;3.23;3.23	5.91	5.91	0.95273	.	0.209735	0.42548	N	0.000698	T	0.08313	0.0207	L	0.34521	1.04	0.80722	D	1	B	0.23854	0.092	B	0.12156	0.007	T	0.09422	-1.0675	10	0.87932	D	0	-27.1145	12.7337	0.57212	0.0:0.0:0.0:1.0	.	9	Q15287	RNPS1_HUMAN	E	9	ENSP00000315859:K9E;ENSP00000380275:K9E;ENSP00000301730:K9E	ENSP00000301730:K9E	K	-	1	0	RNPS1	2254621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.587000	0.53957	2.263000	0.75096	0.450000	0.29827	AAG	.		0.423	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		C	2314620	T	C	2314620	3	2	24	1	0	0	0	0	1	0	0	0	13556	1792	62	4	920	4	RNPS1	16	2314620	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	80713	2314620	88040133	700	3847											
ZNF434	54925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	3434880	3434880	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:3434880A>G	ENST00000396852.4	-	6	1120	c.813T>C	c.(811-813)tcT>tcC	p.S271S	ZSCAN32_ENST00000574940.1_Silent_p.S271S|ZSCAN32_ENST00000304926.3_Silent_p.S59S|ZSCAN32_ENST00000439568.2_5'UTR|ZSCAN32_ENST00000422427.2_Silent_p.S59S|ZSCAN32_ENST00000396846.3_Silent_p.S271S|ZSCAN32_ENST00000573830.1_5'UTR	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	271	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)										CATAAAATTGAGAACTACTAA	0.507																																					p.S59S		.											.	.	.	0			c.T177C						.						73	79	77					16																	3434880		2197	4300	6497	SO:0001819	synonymous_variant	54925	exon5			AAATTGAGAACTA	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.813T>C	16.37:g.3434880A>G		34	0		23	12	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	ENST00000396852.4	37																																																																																				.		0.507	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		G	3434880	A	G	3434880	2	3	24	1	0	0	0	0	0	0	0	1	17956	291	11	4		4	ZNF434	16	3434880	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1120260	3434880	86919873	701	3848											
BTBD12	84464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	3656611	3656611	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:3656611C>A	ENST00000294008.3	-	3	1264	c.624G>T	c.(622-624)ttG>ttT	p.L208F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	208	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						GCTGTAGGACCAATTGTGCTG	0.572								Direct reversal of damage																													p.L208F		.											.	.	.	0			c.G624T						.						196	195	196					16																	3656611		2197	4300	6497	SO:0001583	missense	84464	exon3			TAGGACCAATTGT	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.624G>T	16.37:g.3656611C>A	ENSP00000294008:p.Leu208Phe	45	0		43	23	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855282	0.51376	.	.	ENSG00000188827	ENST00000294008	T	0.01572	4.76	5.16	0.833	0.18875	.	0.312631	0.26820	N	0.022339	T	0.04952	0.0133	L	0.55990	1.75	0.31797	N	0.628891	D	0.76494	0.999	D	0.68192	0.956	T	0.15636	-1.0430	10	0.87932	D	0	.	4.5166	0.11937	0.1272:0.6025:0.1236:0.1467	.	208	Q8IY92	SLX4_HUMAN	F	208	ENSP00000294008:L208F	ENSP00000294008:L208F	L	-	3	2	SLX4	3596612	1.000000	0.71417	0.531000	0.27976	0.265000	0.26407	1.283000	0.33237	0.263000	0.21812	-0.181000	0.13052	TTG	.		0.572	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3656611	C	A	3656611	3	1	24	1	0	0	0	0	1	0	0	0	1544	593	21	3	4932	3	BTBD12	16	3656611	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	221731	3656611	86698142	702	3849											
ZNF500	26048	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	4815793	4815793	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:4815793C>G	ENST00000219478.6	-	2	486	c.187G>C	c.(187-189)Ggg>Cgg	p.G63R	ZNF500_ENST00000545009.1_Missense_Mutation_p.G63R			O60304	ZN500_HUMAN	zinc finger protein 500	63	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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCCGGGGCCCAGCCACCTCC	0.682																																					p.G63R		.											.	.	.	0			c.G187C						.						18	21	20					16																	4815793		2196	4298	6494	SO:0001583	missense	26048	exon2			GGGGCCCAGCCAC	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.187G>C	16.37:g.4815793C>G	ENSP00000219478:p.Gly63Arg	48	0		22	9	NM_021646	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330851	0.60853	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06294	3.32;3.32	4.16	3.2	0.36748	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.12390	0.0301	M	0.87900	2.915	0.25354	N	0.988846	P;P	0.41366	0.747;0.747	B;B	0.38954	0.286;0.286	T	0.12760	-1.0535	9	0.72032	D	0.01	.	7.907	0.29767	0.0:0.8825:0.0:0.1175	.	63;63	B4DNN9;O60304	.;ZN500_HUMAN	R	63	ENSP00000445714:G63R;ENSP00000219478:G63R	ENSP00000219478:G63R	G	-	1	0	ZNF500	4755794	0.408000	0.25360	0.410000	0.26471	0.979000	0.70002	1.859000	0.39418	0.761000	0.33130	0.655000	0.94253	GGG	.		0.682	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		G	4815793	C	G	4815793	3	3	24	1	0	0	0	0	1	0	0	0	17996	594	21	5	1275	5	ZNF500	16	4815793	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1159182	4815793	85538960	703	3850											
UBN1	29855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	4920542	4920542	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:4920542A>G	ENST00000396658.4	+	9	2040	c.1337A>G	c.(1336-1338)cAg>cGg	p.Q446R	UBN1_ENST00000262376.6_Missense_Mutation_p.Q446R|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Missense_Mutation_p.Q446R|UBN1_ENST00000590769.1_Missense_Mutation_p.Q446R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	446					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						GAGCCTCTCCAGAAGCTCAAG	0.567																																					p.Q446R		.											.	.	.	0			c.A1337G						.						44	39	41					16																	4920542		2197	4300	6497	SO:0001583	missense	29855	exon10			CTCTCCAGAAGCT	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.1337A>G	16.37:g.4920542A>G	ENSP00000379894:p.Gln446Arg	26	0		12	5	NM_001079514	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.803042	0.50315	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.44083	0.93;0.93;0.93	5.23	5.23	0.72850	.	0.061049	0.64402	D	0.000002	T	0.30039	0.0752	L	0.31664	0.95	0.35912	D	0.83117	B;B	0.30634	0.244;0.288	B;B	0.29267	0.061;0.1	T	0.39292	-0.9621	10	0.44086	T	0.13	-15.9275	9.6179	0.39704	0.9217:0.0:0.0783:0.0	.	446;446	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	R	446	ENSP00000262376:Q446R;ENSP00000442379:Q446R;ENSP00000379894:Q446R	ENSP00000262376:Q446R	Q	+	2	0	UBN1	4860543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.071000	0.57556	1.983000	0.57843	0.533000	0.62120	CAG	.		0.567	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		G	4920542	A	G	4920542	3	3	24	1	0	0	0	0	1	0	0	0	16941	188	7	4	1371	4	UBN1	16	4920542	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	104749	4920542	85434211	704	3851											
GRIN2A	2903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	9857878	9857878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:9857878C>A	ENST00000396573.2	-	14	3832	c.3523G>T	c.(3523-3525)Gaa>Taa	p.E1175*	GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1175*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1175*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1175*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1175*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E1018*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1175			E -> K (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		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.E1175K(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)	AGCCCCTCTTCATTATGCAAG	0.557																																					p.E1175X		.											GRIN2A,NS,carcinoma,0,2	GRIN2A	0	1	Substitution - Missense(1)	skin(1)	c.G3523T						.						194	190	191					16																	9857878		2197	4300	6497	SO:0001587	stop_gained	2903	exon14			CCTCTTCATTATG		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.3523G>T	16.37:g.9857878C>A	ENSP00000379818:p.Glu1175*	55	0		41	16	NM_000833	O00669|Q17RZ6	Nonsense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241064	0.95272	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.19	5.19	0.71726	.	0.352416	0.34828	N	0.003657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7092	0.88317	0.0:1.0:0.0:0.0	.	.	.	.	X	1175;1175;1018;1175;1175	.	.	E	-	1	0	GRIN2A	9765379	0.925000	0.31364	0.312000	0.25196	0.012000	0.07955	2.693000	0.47027	2.406000	0.81754	0.650000	0.86243	GAA	.		0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9857878	C	A	9857878	4	1	24	1	0	0	0	0	0	1	0	0	6806	835	29	3	875	3	GRIN2A	16	9857878	Nonsense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	4937336	9857878	80496875	705	3852											
SNX29	92017	hgsc.bcm.edu;ucsc.edu	37	16	12220546	12220546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:12220546G>T	ENST00000566228.1	+	12	1528	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	SNX29_ENST00000323433.4_Nonsense_Mutation_p.E102*|SNX29_ENST00000306030.3_Nonsense_Mutation_p.E102*	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	487						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCTGGAGGAGGAGAACAGGTA	0.473																																					p.E487X		.											.	.	.	0			c.G1459T						.						138	140	139					16																	12220546		2003	4178	6181	SO:0001587	stop_gained	92017	exon12			GAGGAGGAGAACA	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.1459G>T	16.37:g.12220546G>T	ENSP00000456480:p.Glu487*	59	0		31	4	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Nonsense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	37	6.039100	0.97226	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	4.36	4.36	0.52297	.	0.224346	0.37530	N	0.002047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-22.2265	11.1914	0.48687	0.0:0.1871:0.8129:0.0	.	.	.	.	X	102	.	ENSP00000306940:E102X	E	+	1	0	SNX29	12128047	1.000000	0.71417	0.990000	0.47175	0.710000	0.40934	2.863000	0.48396	2.379000	0.81126	0.650000	0.86243	GAG	.		0.473	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12220546	G	T	12220546	4	4	24	1	0	0	0	0	0	1	0	0	14943	1175	41	3	318	3	SNX29	16	12220546	Nonsense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2362668	12220546	78134207	706	3853											
SMG1	23049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	18865012	18865012	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:18865012T>G	ENST00000446231.2	-	31	5073	c.4661A>C	c.(4660-4662)aAc>aCc	p.N1554T	SMG1_ENST00000389467.3_Missense_Mutation_p.N1554T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1554	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				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						ACCTGTGAAGTTCTGTTGGTG	0.413																																					p.N1554T		.											.	.	.	0			c.A4661C						.						118	110	113					16																	18865012		1874	4105	5979	SO:0001583	missense	23049	exon31			GTGAAGTTCTGTT	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.4661A>C	16.37:g.18865012T>G	ENSP00000402515:p.Asn1554Thr	94	0		52	15	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555137	0.27739	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01152	5.26;5.26	5.35	4.25	0.50352	PIK-related kinase (1);Armadillo-type fold (1);	0.183165	0.37530	N	0.002051	T	0.01092	0.0036	N	0.19112	0.55	0.28774	N	0.900213	B	0.17038	0.02	B	0.14578	0.011	T	0.39251	-0.9623	10	0.39692	T	0.17	.	11.2317	0.48916	0.0:0.0722:0.0:0.9278	.	1554	Q96Q15	SMG1_HUMAN	T	1554	ENSP00000402515:N1554T;ENSP00000374118:N1554T	ENSP00000374118:N1554T	N	-	2	0	SMG1	18772513	1.000000	0.71417	0.994000	0.49952	0.439000	0.31926	1.945000	0.40273	0.985000	0.38656	-0.415000	0.06103	AAC	.		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		G	18865012	T	G	18865012	3	3	24	1	0	0	0	0	1	0	0	0	14840	1725	60	4	6456	4	SMG1	16	18865012	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6644466	18865012	71489741	707	3854											
ACSM5	54988	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	20451133	20451133	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:20451133A>C	ENST00000331849.4	+	13	1695	c.1548A>C	c.(1546-1548)gcA>gcC	p.A516A	CTD-2194A8.2_ENST00000575772.1_RNA|CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	516					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.A516A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGTAAAGGCATTTATAGTCC	0.453																																					p.A516A		.											ACSM5,NS,carcinoma,0,1	ACSM5	0	1	Substitution - coding silent(1)	prostate(1)	c.A1548C						.						77	77	77					16																	20451133		2203	4296	6499	SO:0001819	synonymous_variant	54988	exon13			AAAGGCATTTATA		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.1548A>C	16.37:g.20451133A>C		98	0		72	22	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	CCDS10585.1																																																																																			.		0.453	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		C	20451133	A	C	20451133	2	2	24	1	0	0	0	0	0	0	0	1	187	204	8	4		4	ACSM5	16	20451133	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1586121	20451133	69903620	708	3855											
ACSM2B	348158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	20554487	20554487	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:20554487C>T	ENST00000329697.6	-	11	1547	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	ACSM2B_ENST00000567001.1_Missense_Mutation_p.G460E|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G460E|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G381E|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	460					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						ATCTGCCCGTCCCATAAACTG	0.498																																					p.G460E		.											.	.	.	0			c.G1379A						.						331	349	343					16																	20554487		2200	4299	6499	SO:0001583	missense	348158	exon12			GCCCGTCCCATAA	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.1379G>A	16.37:g.20554487C>T	ENSP00000327453:p.Gly460Glu	195	0		164	52	NM_182617	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434782	0.43224	.	.	ENSG00000066813	ENST00000329697	T	0.64438	-0.1	3.1	3.1	0.35709	AMP-dependent synthetase/ligase (1);	0.000000	0.41396	U	0.000897	T	0.79370	0.4434	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83861	0.0268	10	0.87932	D	0	-15.5025	14.3347	0.66581	0.0:1.0:0.0:0.0	.	460;460	A8K051;Q68CK6	.;ACS2B_HUMAN	E	460	ENSP00000327453:G460E	ENSP00000327453:G460E	G	-	2	0	ACSM2B	20461988	0.980000	0.34600	0.537000	0.28052	0.180000	0.23129	4.198000	0.58419	1.743000	0.51761	0.508000	0.49915	GGA	.		0.498	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		T	20554487	C	T	20554487	3	4	24	1	0	0	0	0	1	0	0	0	184	855	30	3	370	3	ACSM2B	16	20554487	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	103354	20554487	69800266	709	3856											
DCUN1D3	123879	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	20871607	20871607	+	Frame_Shift_Del	DEL	T	T	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:20871607delT	ENST00000324344.4	-	3	801	c.516delA	c.(514-516)gaafs	p.E172fs	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Frame_Shift_Del_p.E172fs	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	172	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CTTGTTTGGCTTCTGTTAAGA	0.468																																					p.A173fs		.											.	.	.	0			c.517delG						.						98	99	99					16																	20871607		2201	4300	6501	SO:0001589	frameshift_variant	123879	exon3			TTTGGCTTCTGTT	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.516delA	16.37:g.20871607delT	ENSP00000319482:p.Glu172fs	57	0		38	21	NM_173475	B3KVY4	Frame_Shift_Del	DEL	ENST00000324344.4	37	CCDS10592.1																																																																																			.		0.468	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		-	20871607	T	-	20871607	7	5	24	1	0	1	0	1	0	0	0	0	4324	1606	56	0	402	0	DCUN1D3	16	20871607	Frame_Shift_Del	DEL	T	TCGA-W5-AA39-01A-11D-A417-09	317120	20871607	69483146	710	3857											
UBFD1	56061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	23578342	23578342	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:23578342A>C	ENST00000395878.3	+	6	1152	c.771A>C	c.(769-771)aaA>aaC	p.K257N	UBFD1_ENST00000567212.1_Missense_Mutation_p.K248N|CTD-2196E14.6_ENST00000568262.2_RNA|UBFD1_ENST00000219638.4_Missense_Mutation_p.K481N	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	257							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GCTCCATAAAAAATGTGGTCA	0.478																																					p.K257N	Melanoma(22;290 1069 22358 48158)	.											.	.	.	0			c.A771C						.						124	122	123					16																	23578342		1896	4114	6010	SO:0001583	missense	56061	exon6			CATAAAAAATGTG	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"ubiquitin-binding protein homolog"					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.771A>C	16.37:g.23578342A>C	ENSP00000379217:p.Lys257Asn	56	0		47	16	NM_019116	A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492336	0.84962	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	4.9	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	M	0.80982	2.52	0.54753	D	0.999983	D	0.76494	0.999	D	0.66196	0.942	T	0.69953	-0.5005	9	0.87932	D	0	-4.4863	7.7214	0.28733	0.7923:0.0:0.2077:0.0	.	257	O14562	UBFD1_HUMAN	N	481;257;134	.	ENSP00000219638:K481N	K	+	3	2	UBFD1	23485843	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.972000	0.40540	0.225000	0.20959	0.459000	0.35465	AAA	.		0.478	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		C	23578342	A	C	23578342	3	2	24	1	0	0	0	0	1	0	0	0	16933	11	1	4	793	4	UBFD1	16	23578342	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2706735	23578342	66776411	711	3858											
TNRC6A	27327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	24826538	24826538	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:24826538T>G	ENST00000395799.3	+	19	4872	c.4743T>G	c.(4741-4743)acT>acG	p.T1581T	TNRC6A_ENST00000315183.7_Silent_p.T1532T|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Silent_p.T59T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1581					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)		ACAGCAGTACTTCACCAGCCA	0.448																																					p.T1581T		.											.	.	.	0			c.T4743G						.						81	80	80					16																	24826538		2197	4300	6497	SO:0001819	synonymous_variant	27327	exon19			CAGTACTTCACCA	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.4743T>G	16.37:g.24826538T>G		65	0		39	31	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	T	9.901	1.206778	0.22205	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.92	4.83	0.62350	.	.	.	.	.	T	0.58977	0.2160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56068	-0.8040	4	.	.	.	-0.416	8.1894	0.31359	0.0:0.2667:0.0:0.7333	.	.	.	.	V	472	.	.	F	+	1	0	TNRC6A	24734039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.840000	0.27600	1.073000	0.40885	0.533000	0.62120	TTC	.		0.448	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		G	24826538	T	G	24826538	2	3	24	1	0	0	0	0	0	0	0	1	16387	1596	56	4		4	TNRC6A	16	24826538	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1248196	24826538	65528215	712	3859											
GTF3C1	2975	hgsc.bcm.edu	37	16	27549552	27549552	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:27549552C>T	ENST00000356183.4	-	3	572	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R186Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	186					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACCTGGACCGGCCTAGCCG	0.577																																					p.R186Q		.											GTF3C1,right_upper_lobe,carcinoma,+1,1	GTF3C1	+1	0			c.G557A						.						63	65	64					16																	27549552		2197	4300	6497	SO:0001583	missense	2975	exon3			CTGGACCGGCCTA	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.557G>A	16.37:g.27549552C>T	ENSP00000348510:p.Arg186Gln	63	0		42	2	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	36	5.882578	0.97062	.	.	ENSG00000077235	ENST00000356183	T	0.46063	0.88	5.73	5.73	0.89815	.	0.069937	0.64402	D	0.000015	T	0.68256	0.2981	M	0.78456	2.415	0.44402	D	0.997315	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69316	-0.5177	10	0.66056	D	0.02	-1.9192	19.8705	0.96849	0.0:1.0:0.0:0.0	.	186;186	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	186	ENSP00000348510:R186Q	ENSP00000348510:R186Q	R	-	2	0	GTF3C1	27457053	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.411000	0.80078	2.861000	0.98227	0.655000	0.94253	CGG	.		0.577	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27549552	C	T	27549552	3	4	24	1	0	0	0	0	1	0	0	0	6899	652	23	1	5912	1	GTF3C1	16	27549552	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2723014	27549552	62805201	713	3860											
QPRT	23475	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	29706151	29706151	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:29706151C>G	ENST00000395384.4	+	2	341	c.180C>G	c.(178-180)ttC>ttG	p.F60L	QPRT_ENST00000219771.7_Intron|QPRT_ENST00000562473.1_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	60					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|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)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	AGCCTTTCTTCGATGCCATAT	0.662																																					p.F60L		.											.	.	.	0			c.C180G						.						69	71	70					16																	29706151		2197	4300	6497	SO:0001583	missense	23475	exon2			TTTCTTCGATGCC	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"nicotinate-nucleotide pyrophosphorylase (carboxylating)"	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.180C>G	16.37:g.29706151C>G	ENSP00000378782:p.Phe60Leu	51	0		30	13	NM_014298	Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	5.892	0.348777	0.11126	.	.	ENSG00000103485	ENST00000449759;ENST00000395384	T	0.29142	1.58	4.75	-8.14	0.01069	Quinolinate phosphoribosyl transferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.46819	1.47	0.58432	D	0.999998	B	0.12013	0.005	B	0.13407	0.009	T	0.23833	-1.0177	10	0.20046	T	0.44	-20.044	17.2825	0.87132	0.0:0.6193:0.0:0.3807	.	60	Q15274	NADC_HUMAN	L	60	ENSP00000378782:F60L	ENSP00000378782:F60L	F	+	3	2	QPRT	29613652	0.014000	0.17966	0.270000	0.24601	0.047000	0.14425	-1.863000	0.01651	-2.722000	0.00388	-2.159000	0.00328	TTC	.		0.662	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		G	29706151	C	G	29706151	3	3	24	1	0	0	0	0	1	0	0	0	12921	883	31	5	186	5	QPRT	16	29706151	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2156599	29706151	60648602	714	3861											
CDIPT	10423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	29874145	29874145	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:29874145T>C	ENST00000219789.6	-	1	912	c.34A>G	c.(34-36)Aac>Gac	p.N12D	CDIPT-AS1_ENST00000565014.1_RNA|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT_ENST00000561555.1_5'Flank|CDIPT_ENST00000570016.1_Missense_Mutation_p.N12D|CDIPT_ENST00000563415.1_Missense_Mutation_p.N12D|CDIPT_ENST00000569956.1_Missense_Mutation_p.N12D|CDIPT_ENST00000566113.1_Missense_Mutation_p.N12D	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	12					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						CCGATGAGGTTGGGCACGAAC	0.697																																					p.N12D		.											.	.	.	0			c.A34G						.						102	104	104					16																	29874145		2197	4300	6497	SO:0001583	missense	10423	exon1			TGAGGTTGGGCAC	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.34A>G	16.37:g.29874145T>C	ENSP00000219789:p.Asn12Asp	43	0		23	11	NM_006319	B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.576437	0.86645	.	.	ENSG00000103502	ENST00000219789	T	0.57436	0.4	5.24	4.13	0.48395	.	0.045687	0.85682	D	0.000000	T	0.81809	0.4901	H	0.98996	4.395	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.87578	0.9;0.998	D	0.85314	0.1080	10	0.87932	D	0	-22.8614	9.9159	0.41434	0.1527:0.0:0.0:0.8473	.	12;12	B4DUV0;O14735	.;CDIPT_HUMAN	D	12	ENSP00000219789:N12D	ENSP00000219789:N12D	N	-	1	0	CDIPT	29781646	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.658000	0.61497	0.911000	0.36747	-0.496000	0.04628	AAC	.		0.697	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		C	29874145	T	C	29874145	3	2	24	1	0	0	0	0	1	0	0	0	3130	1812	63	4	631	4	CDIPT	16	29874145	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	167994	29874145	60480608	715	3862											
TBC1D10B	26000	hgsc.bcm.edu;broad.mit.edu	37	16	30369466	30369486	+	In_Frame_Del	DEL	CCGCTCCTTCTCCTGTTTCTG	CCGCTCCTTCTCCTGTTTCTG	-	rs144176745|rs549120802		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CCGCTCCTTCTCCTGTTTCTG	CCGCTCCTTCTCCTGTTTCTG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:30369466_30369486delCCGCTCCTTCTCCTGTTTCTG	ENST00000409939.3	-	9	2286_2306	c.2206_2226delCAGAAACAGGAGAAGGAGCGG	c.(2206-2226)cagaaacaggagaaggagcggdel	p.QKQEKER736del	CD2BP2_ENST00000305596.3_5'Flank|RP11-347C12.10_ENST00000563252.1_lincRNA	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		.											.	.	.	0			c.2207_2227del						.																																			SO:0001651	inframe_deletion	26000	exon9			CTTCTCCCGCTCC	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	77	0		58	2	NM_015527	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	In_Frame_Del	DEL	ENST00000409939.3	37	CCDS10676.2																																																																																			.		0.584	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		-	30369486	CCGCTCCTTCTCCTGTTTCTG	-	30369466	7	5	24	1	0	1	0	1	0	0	0	0	15646	610	22	0	204	0	TBC1D10B	16	30369466	In_Frame_Del	DEL	CCGCTCCTTCTCCTGTTTCTG	TCGA-W5-AA39-01A-11D-A417-09	495321	30369466	59985287	716	3863											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	30734428	30734428	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:30734428C>T	ENST00000262518.4	+	24	4422	c.4037C>T	c.(4036-4038)cCc>cTc	p.P1346L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1188L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1284L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1346	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)			AATCCACGCCCCACGTTAACC	0.637																																					p.P1346L		.											.	.	.	0			c.C4037T						.						83	83	83					16																	30734428		2197	4300	6497	SO:0001583	missense	10847	exon24			CACGCCCCACGTT	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.4037C>T	16.37:g.30734428C>T	ENSP00000262518:p.Pro1346Leu	78	0		46	22	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114683	0.37339	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91180	-2.61;-2.8;-2.74	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000035	D	0.83083	0.5177	N	0.14661	0.345	0.42852	D	0.994081	B;B;B	0.33637	0.2;0.42;0.296	B;B;B	0.28465	0.051;0.09;0.041	D	0.84084	0.0386	10	0.72032	D	0.01	-12.9346	17.0352	0.86473	0.0:1.0:0.0:0.0	.	1188;1284;1346	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	L	1346;1284;1188	ENSP00000262518:P1346L;ENSP00000378499:P1284L;ENSP00000343042:P1188L	ENSP00000262518:P1346L	P	+	2	0	SRCAP	30641929	0.009000	0.17119	1.000000	0.80357	0.998000	0.95712	1.165000	0.31822	2.769000	0.95229	0.655000	0.94253	CCC	.		0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30734428	C	T	30734428	3	4	24	1	0	0	0	0	1	0	0	0	15182	623	22	3	4123	3	SRCAP	16	30734428	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	364962	30734428	59620325	717	3864											
C16orf93	90835	ucsc.edu	37	16	30770351	30770351	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:30770351G>T	ENST00000543610.1	-	8	1760	c.799C>A	c.(799-801)Cca>Aca	p.P267T	RNF40_ENST00000324685.6_5'Flank|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Missense_Mutation_p.P332T	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	267										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGCTCTGGTGGGGCCACTGTC	0.542																																					p.P267T													.	C16orf93	33	0			c.C799A						.						180	165	170					16																	30770351		2197	4300	6497	SO:0001583	missense	90835	exon8			CTGGTGGGGCCAC	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.799C>A	16.37:g.30770351G>T	ENSP00000437532:p.Pro267Thr	35	0		33	4	NM_001014979	A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	G	5.529	0.282560	0.10458	.	.	ENSG00000196118	ENST00000354963;ENST00000543610	.	.	.	4.3	-0.584	0.11702	.	0.644098	0.15491	N	0.259545	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.001;0.017;0.0	B;B;B	0.17433	0.002;0.018;0.0	T	0.25882	-1.0119	9	0.17832	T	0.49	-4.0053	9.7202	0.40297	0.0:0.5973:0.2644:0.1383	.	230;39;267	A1A4V9-2;A1A4V9-3;A1A4V9	.;.;CP093_HUMAN	T	230;267	.	ENSP00000347050:P230T	P	-	1	0	C16orf93	30677852	0.001000	0.12720	0.011000	0.14972	0.003000	0.03518	-0.331000	0.07914	-0.043000	0.13513	0.655000	0.94253	CCA	.		0.542	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		T	30770351	G	T	30770351	3	4	24	1	0	0	0	0	1	0	0	0	1851	1232	43	3	204	3	C16orf93	16	30770351	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	35923	30770351	59584402	718	3865											
FUS	2521	bcgsc.ca	37	16	31195693	31195698	+	In_Frame_Del	DEL	GGTGGA	GGTGGA	-	rs375535815|rs78117286		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GGTGGA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:31195693_31195698delGGTGGA	ENST00000254108.7	+	5	604_609	c.499_504delGGTGGA	c.(499-504)ggtggadel	p.GG173del	FUS_ENST00000380244.3_In_Frame_Del_p.GG172del|FUS_ENST00000568685.1_In_Frame_Del_p.GG173del|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	173	Gly-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)		CAGCAgtggtggtggaggtggaggtg	0.485			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																p.167_168del				Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	.	FUS	52	0			c.499_504del						.																																			SO:0001651	inframe_deletion	2521	exon5			AGTGGTGGTGGAG	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.499_504delGGTGGA	16.37:g.31195699_31195704delGGTGGA	ENSP00000254108:p.Gly173_Gly174del	43	0		23	7	NM_004960	Q9H4A8	In_Frame_Del	DEL	ENST00000254108.7	37	CCDS10707.1																																																																																			.		0.485	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		-	31195698	GGTGGA	-	31195693	7	5	24	1	0	1	0	1	0	0	0	0	6124	1348	47	0	517	0	FUS	16	31195693	In_Frame_Del	DEL	GGTGGA	TCGA-W5-AA39-01A-11D-A417-09	425342	31195693	59159060	719	3866											
FUS	2521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	31201095	31201095	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:31201095C>G	ENST00000254108.7	+	10	1151	c.1046C>G	c.(1045-1047)gCa>gGa	p.A349G	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.A348G|FUS_ENST00000568685.1_Missense_Mutation_p.A350G	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	349	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		TCAGCTAAAGCAGCTATTGAC	0.493			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																p.A349G		.		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	.	.	.	0			c.C1046G						.						126	123	124					16																	31201095		2197	4300	6497	SO:0001583	missense	2521	exon10			CTAAAGCAGCTAT	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.1046C>G	16.37:g.31201095C>G	ENSP00000254108:p.Ala349Gly	62	0		39	17	NM_004960	Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699304	0.68501	.	.	ENSG00000089280	ENST00000254108;ENST00000380244;ENST00000394533	T	0.18657	2.2	5.29	4.34	0.51931	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.89353	3.025	0.80722	D	1	P;P;P;P;B;P	0.39737	0.685;0.685;0.685;0.635;0.04;0.685	P;P;P;P;B;P	0.57425	0.82;0.82;0.82;0.724;0.159;0.82	T	0.55679	-0.8103	10	0.87932	D	0	-0.0226	12.6937	0.56990	0.0:0.9187:0.0:0.0813	.	348;349;349;348;123;349	A8K4H1;Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;.;FUS_HUMAN	G	349;76;278	ENSP00000254108:A349G	ENSP00000254108:A349G	A	+	2	0	FUS	31108596	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.431000	0.80335	1.224000	0.43551	0.591000	0.81541	GCA	.		0.493	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		G	31201095	C	G	31201095	3	3	24	1	0	0	0	0	1	0	0	0	6124	710	25	5	1084	5	FUS	16	31201095	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5402	31201095	59153658	720	3867											
ZNF720	124411	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	31734032	31734052	+	In_Frame_Del	DEL	GGGATGTGATGTTAGAGAACT	GGGATGTGATGTTAGAGAACT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GGGATGTGATGTTAGAGAACT	GGGATGTGATGTTAGAGAACT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:31734032_31734052delGGGATGTGATGTTAGAGAACT	ENST00000316491.9	+	2	288_308	c.89_109delGGGATGTGATGTTAGAGAACT	c.(88-111)ggggatgtgatgttagagaactac>gac	p.30_37GDVMLENY>D	ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						CTTTTATATGGGGATGTGATGTTAGAGAACTACGGAAACCT	0.403																																					p.30_36del		.											.	.	.	0			c.88_108del						.																																			SO:0001651	inframe_deletion	124411	exon2			TATATGGGGATGT	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"Zinc fingers, C2H2-type", "-"	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.89_109delGGGATGTGATGTTAGAGAACT	16.37:g.31734032_31734052delGGGATGTGATGTTAGAGAACT	ENSP00000319222:p.Gly30_Tyr37delinsAsp	117	0		62	0	NM_001130913	Q6ZQX1	In_Frame_Del	DEL	ENST00000316491.9	37	CCDS45473.1																																																																																			.		0.403	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		-	31734052	GGGATGTGATGTTAGAGAACT	-	31734032	7	5	24	1	0	1	0	1	0	0	0	0	18169	1232	43	0	95	0	ZNF720	16	31734032	In_Frame_Del	DEL	GGGATGTGATGTTAGAGAACT	TCGA-W5-AA39-01A-11D-A417-09	532937	31734032	58620721	721	3868											
PAPD5	64282	bcgsc.ca	37	16	50248133	50248133	+	Splice_Site	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:50248133T>A	ENST00000561678.1	+	3	592	c.518T>A	c.(517-519)gTc>gAc	p.V173D	PAPD5_ENST00000357464.3_Splice_Site_p.V161D|PAPD5_ENST00000436909.3_Splice_Site_p.V240D			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	161					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		CTGTTTCAGGTCCAGATATTT	0.323																																					p.V240D													.	PAPD5	57	0			c.T719A						.						68	63	65					16																	50248133		1805	4080	5885	SO:0001630	splice_region_variant	64282	exon4			TTCAGGTCCAGAT	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.517-1T>A	16.37:g.50248133T>A		60	0		55	4	NM_001040284	B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	T	22.4	4.283448	0.80803	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.59364	0.27;0.28	5.36	5.36	0.76844	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91234	0.5016	10	0.87932	D	0	.	15.6571	0.77150	0.0:0.0:0.0:1.0	.	240;161	B4DV38;Q8NDF8	.;PAPD5_HUMAN	D	240;161	ENSP00000396995:V240D;ENSP00000350054:V161D	ENSP00000350054:V161D	V	+	2	0	PAPD5	48805634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.278000	0.78587	2.147000	0.66899	0.533000	0.62120	GTC	.		0.323	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447	Missense_Mutation	A	50248133	T	A	50248133	5	1	24	1	0	0	0	0	0	0	1	0	11464	1681	58	5	733	5	PAPD5	16	50248133	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	18514101	50248133	40106620	722	3869											
NOD2	64127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	50733483	50733483	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:50733483T>G	ENST00000300589.2	+	2	263	c.158T>G	c.(157-159)tTc>tGc	p.F53C	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	53	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)				CTGGAAGGCTTCGAGAGTGTC	0.622																																					p.F53C		.											.	.	.	0			c.T158G						.						83	88	86					16																	50733483		2198	4300	6498	SO:0001583	missense	64127	exon2			AAGGCTTCGAGAG	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.158T>G	16.37:g.50733483T>G	ENSP00000300589:p.Phe53Cys	131	0		63	28	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983703	0.74474	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.15718	2.4;2.4	5.34	5.34	0.76211	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.56097	D	0.000039	T	0.34803	0.0910	L	0.50333	1.59	0.39879	D	0.973611	D	0.89917	1.0	D	0.91635	0.999	T	0.13710	-1.0499	10	0.87932	D	0	.	11.7152	0.51647	0.0:0.0:0.0:1.0	.	53	Q9HC29	NOD2_HUMAN	C	26;26;53	ENSP00000431681:F26C;ENSP00000300589:F53C	ENSP00000300589:F53C	F	+	2	0	NOD2	49290984	0.992000	0.36948	0.972000	0.41901	0.958000	0.62258	4.145000	0.58065	2.035000	0.60131	0.533000	0.62120	TTC	.		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		G	50733483	T	G	50733483	3	3	24	1	0	0	0	0	1	0	0	0	10556	1783	62	4	164	4	NOD2	16	50733483	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	485350	50733483	39621270	723	3870											
OGFOD1	55239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	56487225	56487225	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:56487225T>A	ENST00000566157.1	+	2	328	c.205T>A	c.(205-207)Ttc>Atc	p.F69I	OGFOD1_ENST00000568397.1_Missense_Mutation_p.F69I|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	69					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)	GATCCCAAACTTCATCCAAAG	0.368																																					p.F69I		.											.	.	.	0			c.T205A						.						104	103	103					16																	56487225		2198	4300	6498	SO:0001583	missense	55239	exon2			CCAAACTTCATCC	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.205T>A	16.37:g.56487225T>A	ENSP00000457258:p.Phe69Ile	118	0		81	36	NM_018233	H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	T	16.04	3.008888	0.54361	.	.	ENSG00000087263	ENST00000336111	.	.	.	4.93	3.83	0.44106	Prolyl 4-hydroxylase, alpha subunit (1);	0.048567	0.85682	D	0.000000	T	0.70343	0.3213	M	0.70595	2.14	0.58432	D	0.999995	D	0.76494	0.999	D	0.66847	0.947	T	0.67879	-0.5556	9	0.35671	T	0.21	-28.5138	11.0	0.47600	0.0:0.0:0.1568:0.8432	.	69	Q8N543	OGFD1_HUMAN	I	69	.	ENSP00000337196:F69I	F	+	1	0	OGFOD1	55044726	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.525000	0.73795	0.707000	0.31934	-0.389000	0.06534	TTC	.		0.368	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		A	56487225	T	A	56487225	3	1	24	1	0	0	0	0	1	0	0	0	10880	1609	56	5	211	5	OGFOD1	16	56487225	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5753742	56487225	33867528	724	3871											
GPR97	222487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57719585	57719585	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:57719585C>T	ENST00000333493.4	+	11	1448	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.Y219Y|GPR97_ENST00000450388.3_Silent_p.Y309Y	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	429					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						CAACCATGTACGCCCTCTATA	0.597																																					p.Y429Y		.											.	.	.	0			c.C1287T						.						187	168	175					16																	57719585		2198	4300	6498	SO:0001819	synonymous_variant	222487	exon11			CATGTACGCCCTC	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.1287C>T	16.37:g.57719585C>T		70	0		33	18	NM_170776	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																			.		0.597	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57719585	C	T	57719585	2	4	24	1	0	0	0	0	0	0	0	1	6747	547	19	1		1	GPR97	16	57719585	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1232360	57719585	32635168	725	3872											
TEPP	374739	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	58019375	58019375	+	Intron	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:58019375G>A	ENST00000441824.2	+	6	724				TEPP_ENST00000569996.1_Intron|TEPP_ENST00000290871.5_Missense_Mutation_p.C253Y	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed							extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TATCCCTGCTGCCCGCCTCAG	0.682																																					p.C253Y		.											.	.	.	0			c.G758A						.						43	44	44					16																	58019375		2198	4300	6498	SO:0001627	intron_variant	374739	exon6			CCTGCTGCCCGCC	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.688-11G>A	16.37:g.58019375G>A		76	0		46	16	NM_199046	Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692938	0.30052	.	.	ENSG00000159648	ENST00000290871	T	0.48522	0.81	4.67	1.57	0.23409	.	1.713730	0.03374	N	0.199378	T	0.36880	0.0983	.	.	.	0.80722	D	1	P	0.46327	0.876	B	0.37888	0.26	T	0.29792	-1.0000	9	0.49607	T	0.09	-13.8937	3.7677	0.08629	0.2036:0.0:0.604:0.1924	.	253	Q6URK8-2	.	Y	253	ENSP00000290871:C253Y	ENSP00000290871:C253Y	C	+	2	0	TEPP	56576876	0.001000	0.12720	0.007000	0.13788	0.115000	0.19883	0.354000	0.20146	0.191000	0.20236	-0.311000	0.09066	TGC	.		0.682	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		A	58019375	G	A	58019375	1	1	24	0	1	0	0	0	0	0	0	0	15807	1319	46	3		3	TEPP	16	58019375	Intron	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	299790	58019375	32335378	726	3873											
PDP2	57546	broad.mit.edu	37	16	66918662	66918662	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:66918662T>C	ENST00000311765.2	+	2	809	c.475T>C	c.(475-477)Tat>Cat	p.Y159H	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	159					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)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GCTCTTCTACTATGTGGCAGT	0.542																																					p.Y159H													.	PDP2	39	0			c.T475C						.						91	68	76					16																	66918662		2200	4300	6500	SO:0001583	missense	57546	exon2			TTCTACTATGTGG	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.475T>C	16.37:g.66918662T>C	ENSP00000309548:p.Tyr159His	10	0		9	3	NM_020786	A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269859	0.80469	.	.	ENSG00000172840	ENST00000311765	T	0.09350	2.99	5.74	5.74	0.90152	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34700	-0.9818	10	0.51188	T	0.08	-11.9154	16.338	0.83073	0.0:0.0:0.0:1.0	.	159	Q9P2J9	PDP2_HUMAN	H	159	ENSP00000309548:Y159H	ENSP00000309548:Y159H	Y	+	1	0	PDP2	65476163	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.977000	0.88081	2.319000	0.78375	0.528000	0.53228	TAT	.		0.542	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		C	66918662	T	C	66918662	3	2	24	1	0	0	0	0	1	0	0	0	11725	1522	53	4	477	4	PDP2	16	66918662	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	8899287	66918662	23436091	727	3874											
PLEKHG4	25894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67319000	67319000	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:67319000T>G	ENST00000360461.5	+	12	4612	c.2077T>G	c.(2077-2079)Tgc>Ggc	p.C693G	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.C693G|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.C693G|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.C612G	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	693							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)		TGCCTGCCACTGCCACCATGC	0.652																																					p.C693G		.											.	.	.	0			c.T2077G						.						23	24	24					16																	67319000		2152	4241	6393	SO:0001583	missense	25894	exon13			TGCCACTGCCACC	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.2077T>G	16.37:g.67319000T>G	ENSP00000353646:p.Cys693Gly	61	0		35	16	NM_001129728	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	T	0.628	-0.818452	0.02776	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.08458	3.09;3.09;3.09;3.1	4.48	-4.28	0.03732	.	0.732224	0.11277	N	0.580767	T	0.03564	0.0102	N	0.12746	0.255	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44802	-0.9304	10	0.21540	T	0.41	.	7.0933	0.25295	0.0:0.1793:0.4647:0.356	.	612;693	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	G	693;693;693;612	ENSP00000353646:C693G;ENSP00000401118:C693G;ENSP00000368649:C693G;ENSP00000398030:C612G	ENSP00000353646:C693G	C	+	1	0	PLEKHG4	65876501	0.000000	0.05858	0.248000	0.24265	0.043000	0.13939	-0.307000	0.08167	-0.386000	0.07821	-1.122000	0.02009	TGC	.		0.652	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		G	67319000	T	G	67319000	3	3	24	1	0	0	0	0	1	0	0	0	12110	1580	55	4	2123	4	PLEKHG4	16	67319000	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	400338	67319000	23035753	728	3875											
PRMT7	54496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	68380156	68380156	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:68380156T>C	ENST00000339507.5	+	11	1994	c.1164T>C	c.(1162-1164)acT>acC	p.T388T	PRMT7_ENST00000441236.1_Silent_p.T338T|PRMT7_ENST00000449359.3_Silent_p.T338T|PRMT7_ENST00000348497.4_Silent_p.T314T			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	388	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)		AGGACAGAACTGATCGATACG	0.557																																					p.T388T		.											.	.	.	0			c.T1164C						.						79	76	77					16																	68380156		2198	4300	6498	SO:0001819	synonymous_variant	54496	exon11			CAGAACTGATCGA	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.1164T>C	16.37:g.68380156T>C		26	0		20	10	NM_019023	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Silent	SNP	ENST00000339507.5	37	CCDS10866.1																																																																																			.		0.557	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		C	68380156	T	C	68380156	2	2	24	1	0	0	0	0	0	0	0	1	12583	1567	55	4		4	PRMT7	16	68380156	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1061156	68380156	21974597	729	3876											
COG8	84342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	69370532	69370532	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:69370532T>A	ENST00000306875.4	-	2	575	c.461A>T	c.(460-462)gAa>gTa	p.E154V	COG8_ENST00000562081.1_Missense_Mutation_p.E154V|NIP7_ENST00000569637.2_5'Flank|RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.E29V|RP11-343C2.12_ENST00000562949.1_5'Flank|NIP7_ENST00000254940.5_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	154					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CTCCAGTATTTCCAAAATTTC	0.498																																					p.E154V		.											.	.	.	0			c.A461T						.						111	103	106					16																	69370532		2198	4300	6498	SO:0001583	missense	84342	exon2			AGTATTTCCAAAA	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.461A>T	16.37:g.69370532T>A	ENSP00000305459:p.Glu154Val	32	0		23	5	NM_032382	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505768	0.85282	.	.	ENSG00000213380	ENST00000306875	T	0.56611	0.45	5.79	5.79	0.91817	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.81022	-0.1121	10	0.54805	T	0.06	-4.7032	16.1189	0.81329	0.0:0.0:0.0:1.0	.	181;154	B4DYU2;Q96MW5	.;COG8_HUMAN	V	154	ENSP00000305459:E154V	ENSP00000305459:E154V	E	-	2	0	COG8	67928033	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.640000	0.83355	2.201000	0.70794	0.460000	0.39030	GAA	.		0.498	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		A	69370532	T	A	69370532	3	1	24	1	0	0	0	0	1	0	0	0	3671	1783	62	5	1393	5	COG8	16	69370532	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	990376	69370532	20984221	730	3877											
WWP2	11060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	69874107	69874107	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:69874107T>A	ENST00000359154.2	+	5	520	c.419T>A	c.(418-420)tTc>tAc	p.F140Y	WWP2_ENST00000356003.2_Missense_Mutation_p.F140Y|WWP2_ENST00000569174.1_Missense_Mutation_p.F140Y|WWP2_ENST00000542271.1_Missense_Mutation_p.F24Y|WWP2_ENST00000448661.1_Missense_Mutation_p.F140Y|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	140					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						CTGACAATTTTCCTGGACGGG	0.572																																					p.F140Y		.											.	.	.	0			c.T419A						.						118	98	104					16																	69874107		2198	4300	6498	SO:0001583	missense	11060	exon5			CAATTTTCCTGGA	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.419T>A	16.37:g.69874107T>A	ENSP00000352069:p.Phe140Tyr	49	0		34	16	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041858	0.55003	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.31247	1.56;1.56;1.56;1.5	5.37	5.37	0.77165	C2 calcium/lipid-binding domain, CaLB (1);	0.052911	0.85682	D	0.000000	T	0.16769	0.0403	N	0.19112	0.55	0.41348	D	0.987349	P	0.39282	0.666	B	0.28553	0.091	T	0.08743	-1.0707	9	.	.	.	.	13.1034	0.59233	0.0:0.0:0.0:1.0	.	140	O00308	WWP2_HUMAN	Y	140;140;140;27;24	ENSP00000352069:F140Y;ENSP00000396871:F140Y;ENSP00000348283:F140Y;ENSP00000445616:F24Y	.	F	+	2	0	WWP2	68431608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.407000	0.59754	2.032000	0.59987	0.533000	0.62120	TTC	.		0.572	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		A	69874107	T	A	69874107	3	1	24	1	0	0	0	0	1	0	0	0	17465	1783	62	5	433	5	WWP2	16	69874107	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	503575	69874107	20480646	731	3878											
DDX19A	55308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	70404165	70404165	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:70404165A>C	ENST00000302243.7	+	10	1223	c.1060A>C	c.(1060-1062)Aaa>Caa	p.K354Q	DDX19A_ENST00000443119.2_Missense_Mutation_p.K264Q|DDX19A_ENST00000417604.2_Missense_Mutation_p.K323Q	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	354	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGAGCTCTCAAAAGAAGGCCA	0.463																																					p.K354Q		.											.	.	.	0			c.A1060C						.						68	68	68					16																	70404165		2198	4298	6496	SO:0001583	missense	55308	exon10			CTCTCAAAAGAAG	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1060A>C	16.37:g.70404165A>C	ENSP00000306117:p.Lys354Gln	81	0		30	17	NM_018332	B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	ENST00000302243.7	37	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571458	0.28003	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.75821	-0.97;-0.97;-0.97	5.47	4.31	0.51392	Helicase, C-terminal (3);	0.142668	0.64402	D	0.000005	T	0.58652	0.2137	N	0.16790	0.44	0.41356	D	0.987399	B;B;B;B;B	0.31581	0.001;0.006;0.001;0.329;0.001	B;B;B;B;B	0.36608	0.003;0.026;0.003;0.229;0.005	T	0.55786	-0.8086	10	0.20519	T	0.43	.	10.3183	0.43751	0.8348:0.1652:0.0:0.0	.	264;323;189;354;355	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	Q	354;246;323;264	ENSP00000306117:K354Q;ENSP00000410243:K323Q;ENSP00000399208:K264Q	ENSP00000306209:K246Q	K	+	1	0	DDX19A	68961666	0.997000	0.39634	0.995000	0.50966	0.997000	0.91878	3.813000	0.55636	2.070000	0.61991	0.402000	0.26972	AAA	.		0.463	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		C	70404165	A	C	70404165	3	2	24	1	0	0	0	0	1	0	0	0	4355	15	1	4	1098	4	DDX19A	16	70404165	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	530058	70404165	19950588	732	3879											
MARVELD3	91862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	71668439	71668439	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:71668439C>G	ENST00000268485.3	+	3	983	c.939C>G	c.(937-939)atC>atG	p.I313M	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	313	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				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)				ACATGCTCATCGCGGGGGGGT	0.582																																					p.I313M		.											.	.	.	0			c.C939G						.						84	80	82					16																	71668439		2198	4300	6498	SO:0001583	missense	91862	exon3			GCTCATCGCGGGG	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.939C>G	16.37:g.71668439C>G	ENSP00000268485:p.Ile313Met	34	0		18	7	NM_052858	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957118	0.18507	.	.	ENSG00000140832	ENST00000268485	T	0.51325	0.71	5.55	-11.1	0.00147	Marvel (1);	.	.	.	.	T	0.40398	0.1115	M	0.64997	1.995	0.80722	D	1	P	0.45715	0.865	B	0.42062	0.374	T	0.72469	-0.4284	9	0.59425	D	0.04	.	14.0483	0.64719	0.0:0.5698:0.1695:0.2607	.	313	Q96A59	MALD3_HUMAN	M	313	ENSP00000268485:I313M	ENSP00000268485:I313M	I	+	3	3	MARVELD3	70225940	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.054000	0.00304	-2.793000	0.00355	-0.882000	0.02950	ATC	.		0.582	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		G	71668439	C	G	71668439	3	3	24	1	0	0	0	0	1	0	0	0	9357	874	31	5	949	5	MARVELD3	16	71668439	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1264274	71668439	18686314	733	3880											
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	72831573	72831573	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:72831573T>C	ENST00000268489.5	-	9	5680	c.5008A>G	c.(5008-5010)Agt>Ggt	p.S1670G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S756G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1670					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)				ATGCCAGCACTGCTTGGATTG	0.532																																					p.S1670G		.											.	.	.	0			c.A5008G						.						126	105	112					16																	72831573		2198	4300	6498	SO:0001583	missense	463	exon9			CAGCACTGCTTGG	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.5008A>G	16.37:g.72831573T>C	ENSP00000268489:p.Ser1670Gly	38	0		22	10	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	0.400	-0.919081	0.02396	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74421	-0.84;-0.82	5.87	3.59	0.41128	.	0.207947	0.33419	N	0.004934	T	0.54013	0.1832	N	0.14661	0.345	0.36339	D	0.859373	B	0.06786	0.001	B	0.06405	0.002	T	0.49000	-0.8984	10	0.23302	T	0.38	.	9.191	0.37200	0.0:0.0642:0.1241:0.8118	.	1670	Q15911	ZFHX3_HUMAN	G	1670;756	ENSP00000268489:S1670G;ENSP00000438926:S756G	ENSP00000268489:S1670G	S	-	1	0	ZFHX3	71389074	0.998000	0.40836	0.543000	0.28128	0.011000	0.07611	2.172000	0.42463	0.540000	0.28808	-0.313000	0.08912	AGT	.		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		C	72831573	T	C	72831573	3	2	24	1	0	0	0	0	1	0	0	0	17682	1580	55	4	6111	4	ZFHX3	16	72831573	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1163134	72831573	17523180	734	3881											
GLG1	2734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	74525044	74525044	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:74525044G>T	ENST00000422840.2	-	8	1303	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	GLG1_ENST00000447066.2_Missense_Mutation_p.S424Y|GLG1_ENST00000205061.5_Missense_Mutation_p.S435Y	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	435					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						AGGGCTCAGAGAAAAGTCTTC	0.488																																					p.S435Y		.											.	.	.	0			c.C1304A						.						194	154	167					16																	74525044		2198	4300	6498	SO:0001583	missense	2734	exon8			CTCAGAGAAAAGT		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.1304C>A	16.37:g.74525044G>T	ENSP00000405984:p.Ser435Tyr	46	0		28	10	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029866	0.93575	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	L	0.53249	1.67	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.994	D;D;D	0.77557	0.99;0.954;0.944	T	0.75836	-0.3177	9	0.51188	T	0.08	-6.9227	19.8636	0.96797	0.0:0.0:1.0:0.0	.	435;435;424	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	Y	435;424;435	.	ENSP00000205061:S435Y	S	-	2	0	GLG1	73082545	1.000000	0.71417	0.955000	0.39395	0.993000	0.82548	9.605000	0.98321	2.694000	0.91930	0.655000	0.94253	TCT	.		0.488	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		T	74525044	G	T	74525044	3	4	24	1	0	0	0	0	1	0	0	0	6462	942	33	3	2391	3	GLG1	16	74525044	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1693471	74525044	15829709	735	3882											
RFWD3	55159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	74670304	74670304	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:74670304A>C	ENST00000361070.4	-	8	1463	c.1366T>G	c.(1366-1368)Tgt>Ggt	p.C456G	RFWD3_ENST00000571750.1_Missense_Mutation_p.C456G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	456					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)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AGAGCATCACAGTATGCCATG	0.502																																					p.C456G		.											.	.	.	0			c.T1366G						.						144	135	138					16																	74670304		2198	4300	6498	SO:0001583	missense	55159	exon8			CATCACAGTATGC	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.1366T>G	16.37:g.74670304A>C	ENSP00000354361:p.Cys456Gly	52	0		37	19	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154791	0.38021	.	.	ENSG00000168411	ENST00000361070	T	0.18810	2.19	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);	0.044156	0.85682	D	0.000000	T	0.27967	0.0689	M	0.81682	2.555	0.80722	D	1	B	0.14012	0.009	B	0.16289	0.015	T	0.15809	-1.0424	10	0.12430	T	0.62	-7.473	15.794	0.78394	1.0:0.0:0.0:0.0	.	456	Q6PCD5	RFWD3_HUMAN	G	456	ENSP00000354361:C456G	ENSP00000354361:C456G	C	-	1	0	RFWD3	73227805	1.000000	0.71417	0.437000	0.26809	0.914000	0.54420	5.876000	0.69667	2.126000	0.65437	0.533000	0.62120	TGT	.		0.502	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		C	74670304	A	C	74670304	3	2	24	1	0	0	0	0	1	0	0	0	13306	188	7	4	982	4	RFWD3	16	74670304	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	145260	74670304	15684449	736	3883											
PKD1L2	114780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	81248669	81248669	+	RNA	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:81248669A>T	ENST00000525539.1	-	0	593				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						GATCTGAAGGACGCCCGGCAT	0.647											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R198R		.											.	.	.	0			c.T594A						.						18	23	21					16																	81248669		2003	4163	6166			114780	exon3			TGAAGGACGCCCG	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.81248669A>T		51	0	1204	32	13	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37																																																																																				.		0.647	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			T	81248669	A	T	81248669	1	4	24	0	1	0	0	0	0	0	0	0	12004	262	10	5		5	PKD1L2	16	81248669	RNA	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6578365	81248669	9106084	737	3884											
CDH13	1012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	83816933	83816933	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr16:83816933T>G	ENST00000566620.1	+	13	2280	c.1990T>G	c.(1990-1992)Tca>Gca	p.S664A	CDH13_ENST00000428848.3_Missense_Mutation_p.S625A|CDH13_ENST00000268613.10_Missense_Mutation_p.S711A	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	664	Cadherin 5. {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)		GGTGACAGATTCAGGGAAACC	0.512																																					p.S711A		.											.	.	.	0			c.T2131G						.						94	90	91					16																	83816933		1979	4175	6154	SO:0001583	missense	1012	exon14			ACAGATTCAGGGA	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.1990T>G	16.37:g.83816933T>G	ENSP00000454435:p.Ser664Ala	65	0		44	24	NM_001220488	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036660	0.54896	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.51574	0.7	5.19	5.19	0.71726	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68393	0.2996	M	0.77712	2.385	0.80722	D	1	D;D;D	0.69078	0.997;0.973;0.992	D;D;D	0.76071	0.983;0.93;0.987	T	0.71248	-0.4649	9	0.49607	T	0.09	.	14.2364	0.65929	0.0:0.0:0.0:1.0	.	625;711;664	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	A	711;664;625;366;223;354	ENSP00000268613:S711A	ENSP00000268613:S711A	S	+	1	0	CDH13	82374434	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	7.185000	0.77714	1.953000	0.56701	0.533000	0.62120	TCA	.		0.512	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		G	83816933	T	G	83816933	3	3	24	1	0	0	0	0	1	0	0	0	3106	1783	62	4	2040	4	CDH13	16	83816933	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2568264	83816933	6537820	738	3885											
ANKFY1	51479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	4098471	4098471	+	Splice_Site	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:4098471G>C	ENST00000341657.4	-	10	1209	c.1174C>G	c.(1174-1176)Cta>Gta	p.L392V	Y_RNA_ENST00000384660.1_RNA|ANKFY1_ENST00000570535.1_Splice_Site_p.L434V|ANKFY1_ENST00000433651.1_Splice_Site_p.L392V|ANKFY1_ENST00000574367.1_Splice_Site_p.L392V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	392					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						TCTAAATCTAGTCTGAAAAGC	0.453																																					p.L434V		.											.	.	.	0			c.C1300G						.						47	49	49					17																	4098471		1995	4177	6172	SO:0001630	splice_region_variant	51479	exon10			AATCTAGTCTGAA	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.1173-1C>G	17.37:g.4098471G>C		46	0		16	6	NM_001257999	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	7.363	0.625177	0.14257	.	.	ENSG00000185722	ENST00000341657;ENST00000535427;ENST00000433651	T;T	0.63913	-0.07;0.7	5.21	-2.54	0.06307	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	T	0.33498	0.0865	N	0.10685	0.025	0.37963	D	0.933037	P;B;B;B;P	0.45902	0.868;0.359;0.406;0.3;0.493	B;B;B;B;B	0.41946	0.343;0.157;0.371;0.164;0.214	T	0.49273	-0.8957	10	0.05351	T	0.99	-2.6211	13.6893	0.62535	0.3978:0.0:0.6022:0.0	.	333;392;392;392;434	F5H754;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	V	392;333;392	ENSP00000343362:L392V;ENSP00000416005:L392V	ENSP00000343362:L392V	L	-	1	2	ANKFY1	4045220	0.024000	0.19004	0.021000	0.16686	0.813000	0.45954	0.313000	0.19415	-0.372000	0.07992	-0.302000	0.09304	CTA	.		0.453	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	Missense_Mutation	C	4098471	G	C	4098471	5	2	24	1	0	0	0	0	0	0	1	0	626	1043	36	5	2494	5	ANKFY1	17	4098471	Splice_Site	SNP	G	TCGA-W5-AA39-01A-11D-A417-09		4098471	77096739	739	3886											
ANKFY1	51479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	4113218	4113218	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:4113218T>G	ENST00000341657.4	-	5	518	c.483A>C	c.(481-483)ctA>ctC	p.L161L	ANKFY1_ENST00000570535.1_Silent_p.L203L|ANKFY1_ENST00000433651.1_Silent_p.L161L|ANKFY1_ENST00000574367.1_Silent_p.L161L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	161					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						TGACATTCACTAGAGACATAA	0.418																																					p.L203L		.											.	.	.	0			c.A609C						.						113	110	111					17																	4113218		1957	4141	6098	SO:0001819	synonymous_variant	51479	exon5			ATTCACTAGAGAC	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.483A>C	17.37:g.4113218T>G		44	0		20	12	NM_001257999	A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37																																																																																				.		0.418	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		G	4113218	T	G	4113218	2	3	24	1	0	0	0	0	0	0	0	1	626	1509	53	4		4	ANKFY1	17	4113218	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	14747	4113218	77081992	740	3887											
C1QBP	708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	5341560	5341560	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:5341560T>G	ENST00000225698.4	-	2	347	c.266A>C	c.(265-267)gAa>gCa	p.E89A	C1QBP_ENST00000574444.1_5'UTR	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	89	C1q binding.				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)	CTCCTTAATTTCATCACTCAG	0.388																																					p.E89A		.											.	.	.	0			c.A266C						.						75	76	76					17																	5341560		2203	4300	6503	SO:0001583	missense	708	exon2			TTAATTTCATCAC	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.266A>C	17.37:g.5341560T>G	ENSP00000225698:p.Glu89Ala	110	0		75	27	NM_001212	Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266942	0.80469	.	.	ENSG00000108561	ENST00000225698	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85815	0.1382	9	0.87932	D	0	-22.9607	13.2777	0.60196	0.0:0.0:0.0:1.0	.	89	Q07021	C1QBP_HUMAN	A	89	.	ENSP00000225698:E89A	E	-	2	0	C1QBP	5282284	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.630000	0.83225	2.003000	0.58678	0.528000	0.53228	GAA	.		0.388	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		G	5341560	T	G	5341560	3	3	24	1	0	0	0	0	1	0	0	0	1963	1783	62	4	602	4	C1QBP	17	5341560	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1228342	5341560	75853650	741	3888											
FAM64A	54478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	6351018	6351018	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:6351018C>T	ENST00000250056.8	+	3	613	c.530C>T	c.(529-531)tCa>tTa	p.S177L	FAM64A_ENST00000572595.2_Missense_Mutation_p.S208L|FAM64A_ENST00000576056.1_Missense_Mutation_p.S177L|FAM64A_ENST00000571373.1_Missense_Mutation_p.S177L|FAM64A_ENST00000572447.1_Missense_Mutation_p.S177L|FAM64A_ENST00000570337.2_Missense_Mutation_p.S177L	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	177					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)		TTACGGCGATCAAGGCGGGAG	0.657																																					p.S177L		.											.	.	.	0			c.C530T						.						31	33	32					17																	6351018		2203	4299	6502	SO:0001583	missense	54478	exon3			GGCGATCAAGGCG		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.530C>T	17.37:g.6351018C>T	ENSP00000250056:p.Ser177Leu	57	0		28	15	NM_019013	Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389806	0.25118	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.40756	1.02	4.9	2.47	0.30058	.	0.517250	0.18793	N	0.131007	T	0.28665	0.0710	L	0.41824	1.3	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.12156	0.007;0.004	T	0.19712	-1.0297	10	0.20046	T	0.44	-0.862	6.2057	0.20602	0.0:0.7166:0.0:0.2834	.	177;177	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	L	177	ENSP00000250056:S177L	ENSP00000250056:S177L	S	+	2	0	FAM64A	6291742	0.013000	0.17824	0.008000	0.14137	0.085000	0.17905	0.552000	0.23376	0.433000	0.26313	0.563000	0.77884	TCA	.		0.657	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		T	6351018	C	T	6351018	3	4	24	1	0	0	0	0	1	0	0	0	5620	838	29	3	536	3	FAM64A	17	6351018	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1009458	6351018	74844192	742	3889											
ACADVL	37	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	7124970	7124983	+	Frame_Shift_Del	DEL	GAAAGAAAAATACC	GAAAGAAAAATACC	-	rs371407903|rs530082418		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GAAAGAAAAATACC	GAAAGAAAAATACC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:7124970_7124983delGAAAGAAAAATACC	ENST00000356839.5	+	7	770_783	c.591_604delGAAAGAAAAATACC	c.(589-606)cagaaagaaaaatacctcfs	p.QKEKYL197fs	ACADVL_ENST00000350303.5_Frame_Shift_Del_p.QKEKYL175fs|ACADVL_ENST00000581562.1_Intron|DLG4_ENST00000399510.2_5'Flank|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Frame_Shift_Del_p.QKEKYL220fs	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	197	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						CAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCT	0.556																																					p.220_224del		.											.	.	.	0			c.659_672del	GRCh37	CM034379	ACADVL	M		.																																			SO:0001589	frameshift_variant	37	exon8			GGCCCAGAAAGAA	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.591_604delGAAAGAAAAATACC	17.37:g.7124970_7124983delGAAAGAAAAATACC	ENSP00000349297:p.Gln197fs	41	0		20	9	NM_001270447	B4DEB6|F5H2A9|O76056|Q8WUL0	Frame_Shift_Del	DEL	ENST00000356839.5	37	CCDS11090.1																																																																																			.		0.556	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		-	7124983	GAAAGAAAAATACC	-	7124970	7	5	24	1	0	1	0	1	0	0	0	0	116	933	33	0	617	0	ACADVL	17	7124970	Frame_Shift_Del	DEL	GAAAGAAAAATACC	TCGA-W5-AA39-01A-11D-A417-09	773952	7124970	74070240	743	3890											
C17orf81	23587	broad.mit.edu;bcgsc.ca	37	17	7156115	7156124	+	Frame_Shift_Del	DEL	CTCTTGAAGG	CTCTTGAAGG	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:7156115_7156124delCTCTTGAAGG	ENST00000396628.2	+	2	338_347	c.121_130delCTCTTGAAGG	c.(121-132)ctcttgaaggcgfs	p.LLKA41fs	ELP5_ENST00000573657.1_Frame_Shift_Del_p.LLKA41fs|CTDNEP1_ENST00000572043.1_5'Flank|ELP5_ENST00000356683.2_Frame_Shift_Del_p.LLKA41fs|CTDNEP1_ENST00000318988.6_5'Flank|ELP5_ENST00000574993.1_Frame_Shift_Del_p.LLKA41fs|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000354429.2_Frame_Shift_Del_p.LLKA41fs|ELP5_ENST00000396627.2_Frame_Shift_Del_p.LLKA41fs|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000574255.1_Frame_Shift_Del_p.LLKA41fs|RP1-4G17.5_ENST00000577138.1_Intron	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	41					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GGGGCGCAGTCTCTTGAAGGCGCTTGTCAA	0.576																																					p.41_44del													.	.	.	0			c.121_130del						.																																			SO:0001589	frameshift_variant	23587	exon2			CGCAGTCTCTTGA	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"Elongator acetyltransferase complex subunits"	30617	protein-coding gene	gene with protein product	"dermal papilla derived protein 6", "S-phase 2 protein"	615019	"chromosome 17 open reading frame 81"	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.121_130delCTCTTGAAGG	17.37:g.7156115_7156124delCTCTTGAAGG	ENSP00000379869:p.Leu41fs	47	0		19	6	NM_203414	A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Frame_Shift_Del	DEL	ENST00000396628.2	37	CCDS11094.1																																																																																			.		0.576	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		-	7156124	CTCTTGAAGG	-	7156115	7	5	24	1	0	1	0	1	0	0	0	0	1892	913	32	0	127	0	C17orf81	17	7156115	Frame_Shift_Del	DEL	CTCTTGAAGG	TCGA-W5-AA39-01A-11D-A417-09	31145	7156115	74039095	744	3891											
CNTROB	116840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7840511	7840511	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:7840511T>G	ENST00000563694.1	+	7	1783	c.858T>G	c.(856-858)tcT>tcG	p.S286S	CNTROB_ENST00000380255.3_Silent_p.S286S|CNTROB_ENST00000565740.1_Silent_p.S286S|CNTROB_ENST00000380262.3_Silent_p.S286S	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	286					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)				AAAGCCTTTCTGAGGCCATGG	0.488																																					p.S286S		.											.	.	.	0			c.T858G						.						152	154	153					17																	7840511		2203	4300	6503	SO:0001819	synonymous_variant	116840	exon7			CCTTTCTGAGGCC	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.858T>G	17.37:g.7840511T>G		74	0		60	31	NM_001037144	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	CCDS11126.1																																																																																			.		0.488	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		G	7840511	T	G	7840511	2	3	24	1	0	0	0	0	0	0	0	1	3658	1567	55	4		4	CNTROB	17	7840511	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	684396	7840511	73354699	745	3892											
ALOX12B	242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7976095	7976095	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:7976095A>G	ENST00000319144.4	-	15	2360	c.2100T>C	c.(2098-2100)tcT>tcC	p.S700S	ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	700	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCTCCTAAATAGAAATGCTGT	0.493										Multiple Myeloma(8;0.094)																											p.S700S		.											.	.	.	0			c.T2100C						.						163	150	155					17																	7976095		2203	4300	6503	SO:0001819	synonymous_variant	242	exon15			CTAAATAGAAATG	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.2100T>C	17.37:g.7976095A>G		37	0		41	20	NM_001139		Silent	SNP	ENST00000319144.4	37	CCDS11129.1																																																																																			.		0.493	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			G	7976095	A	G	7976095	2	3	24	1	0	0	0	0	0	0	0	1	537	407	15	4		4	ALOX12B	17	7976095	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	135584	7976095	73219115	746	3893											
PER1	5187	broad.mit.edu;bcgsc.ca	37	17	8051527	8051527	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:8051527T>G	ENST00000317276.4	-	9	1336	c.1099A>C	c.(1099-1101)Agc>Cgc	p.S367R	PER1_ENST00000354903.5_Missense_Mutation_p.S351R|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.S347R	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	367	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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						AAGAGGCAGCTGGGTGTGTGC	0.597			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																													p.S367R				Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	.	PER1	104	0			c.A1099C						.						101	92	95					17																	8051527		2203	4300	6503	SO:0001583	missense	5187	exon9			GGCAGCTGGGTGT	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.1099A>C	17.37:g.8051527T>G	ENSP00000314420:p.Ser367Arg	19	0		12	6	NM_002616	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106789	0.77096	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.16897	2.31;2.31	5.34	5.34	0.76211	PAS (1);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.85945	2.785	0.54753	D	0.999989	D;D	0.71674	0.998;0.996	D;D	0.71656	0.94;0.974	T	0.51293	-0.8724	10	0.72032	D	0.01	-18.5265	13.2765	0.60189	0.0:0.0:0.0:1.0	.	351;367	B4DI49;O15534	.;PER1_HUMAN	R	367;351	ENSP00000314420:S367R;ENSP00000346979:S351R	ENSP00000314420:S367R	S	-	1	0	PER1	7992252	0.992000	0.36948	1.000000	0.80357	0.931000	0.56810	2.298000	0.43602	2.025000	0.59659	0.460000	0.39030	AGC	.		0.597	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			G	8051527	T	G	8051527	3	3	24	1	0	0	0	0	1	0	0	0	11768	1580	55	4	2833	4	PER1	17	8051527	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	75432	8051527	73143683	747	3894											
PER1	5187	broad.mit.edu	37	17	8051559	8051559	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:8051559T>C	ENST00000317276.4	-	9	1304	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G	PER1_ENST00000354903.5_Missense_Mutation_p.D340G|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.D336G	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	356	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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						AATCCTCTTGTCAGGGGGTAT	0.602			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																													p.D356G				Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	.	PER1	104	0			c.A1067G						.						88	82	84					17																	8051559		2203	4300	6503	SO:0001583	missense	5187	exon9			CTCTTGTCAGGGG	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.1067A>G	17.37:g.8051559T>C	ENSP00000314420:p.Asp356Gly	16	0		12	4	NM_002616	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615723	0.66672	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.40476	2.4;1.03	5.34	5.34	0.76211	PAS (1);	0.154450	0.53938	D	0.000042	T	0.64394	0.2594	M	0.77313	2.365	0.58432	D	0.999999	P;D	0.69078	0.714;0.997	B;D	0.73380	0.289;0.98	T	0.69320	-0.5176	10	0.87932	D	0	-23.4602	13.2765	0.60189	0.0:0.0:0.0:1.0	.	340;356	B4DI49;O15534	.;PER1_HUMAN	G	356;340	ENSP00000314420:D356G;ENSP00000346979:D340G	ENSP00000314420:D356G	D	-	2	0	PER1	7992284	1.000000	0.71417	0.995000	0.50966	0.488000	0.33401	7.973000	0.88032	2.025000	0.59659	0.460000	0.39030	GAC	.		0.602	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			C	8051559	T	C	8051559	3	2	24	1	0	0	0	0	1	0	0	0	11768	1667	58	4	2865	4	PER1	17	8051559	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	32	8051559	73143651	748	3895											
C17orf68	80169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	8140773	8140773	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:8140773T>A	ENST00000315684.8	-	5	719	c.712A>T	c.(712-714)Aaa>Taa	p.K238*	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	238					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						TGTTTACTTTTCACCAGAGCA	0.493																																					p.K238X		.											.	.	.	0			c.A712T						.						112	113	113					17																	8140773		2028	4173	6201	SO:0001587	stop_gained	80169	exon5			TACTTTTCACCAG	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.712A>T	17.37:g.8140773T>A	ENSP00000313759:p.Lys238*	66	0		29	13	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Nonsense_Mutation	SNP	ENST00000315684.8	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073233	0.55646	.	.	ENSG00000178971	ENST00000315684	.	.	.	4.82	3.72	0.42706	.	1.029370	0.07662	N	0.933959	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0173	7.5885	0.28006	0.0:0.0979:0.0:0.9021	.	.	.	.	X	238	.	ENSP00000313759:K238X	K	-	1	0	CTC1	8081498	0.018000	0.18449	0.596000	0.28811	0.472000	0.32918	0.839000	0.27586	0.930000	0.37217	0.329000	0.21502	AAA	.		0.493	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		A	8140773	T	A	8140773	4	1	24	1	0	0	0	0	0	1	0	0	1882	1792	62	5	3017	5	C17orf68	17	8140773	Nonsense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	89214	8140773	73054437	749	3896											
C17orf68	80169	bcgsc.ca	37	17	8140835	8140835	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:8140835T>A	ENST00000315684.8	-	5	657	c.650A>T	c.(649-651)aAc>aTc	p.N217I	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	217					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						TCTGAGCTTGTTTCTAAGAAG	0.478																																					p.N217I													.	CTC1	75	0			c.A650T						.						58	57	57					17																	8140835		1919	4127	6046	SO:0001583	missense	80169	exon5			AGCTTGTTTCTAA	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.650A>T	17.37:g.8140835T>A	ENSP00000313759:p.Asn217Ile	39	0		17	7	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.874775	0.51695	.	.	ENSG00000178971	ENST00000315684	D	0.82619	-1.63	3.61	-0.788	0.10939	.	0.882627	0.09876	N	0.744260	T	0.61110	0.2321	N	0.08118	0	0.21386	N	0.999707	B	0.06786	0.001	B	0.04013	0.001	T	0.46721	-0.9171	10	0.36615	T	0.2	0.1642	2.7011	0.05149	0.2083:0.4162:0.0:0.3755	.	217	Q2NKJ3	CTC1_HUMAN	I	217	ENSP00000313759:N217I	ENSP00000313759:N217I	N	-	2	0	CTC1	8081560	0.800000	0.28916	0.648000	0.29521	0.921000	0.55340	0.016000	0.13377	-0.084000	0.12595	-0.903000	0.02851	AAC	.		0.478	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		A	8140835	T	A	8140835	3	1	24	1	0	0	0	0	1	0	0	0	1882	1725	60	5	3079	5	C17orf68	17	8140835	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	62	8140835	73054375	750	3897											
NDEL1	81565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	8354204	8354204	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:8354204A>C	ENST00000334527.7	+	6	830	c.633A>C	c.(631-633)caA>caC	p.Q211H	NDEL1_ENST00000299734.7_Missense_Mutation_p.Q211H|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Missense_Mutation_p.Q211H|NDEL1_ENST00000402554.3_Missense_Mutation_p.Q211H	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	211	Interaction with CENPF.|Interaction with KATNA1. {ECO:0000250}.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						CCGCCGTCCAAGCATCACTTT	0.473																																					p.Q211H		.											.	.	.	0			c.A633C						.						77	69	71					17																	8354204		2203	4300	6503	SO:0001583	missense	81565	exon6			CGTCCAAGCATCA	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.633A>C	17.37:g.8354204A>C	ENSP00000333982:p.Gln211His	54	0		35	18	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.144647	0.57044	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	4.98	-7.49	0.01355	NUDE protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	M	0.73962	2.25	0.58432	D	0.999994	B;B	0.24618	0.012;0.107	B;B	0.27608	0.035;0.081	T	0.49523	-0.8931	9	0.51188	T	0.08	-3.9645	22.5354	0.99973	0.1857:0.0:0.8143:0.0	.	211;211	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	H	211;211;266;211	.	ENSP00000299734:Q211H	Q	+	3	2	NDEL1	8294929	0.890000	0.30428	0.454000	0.27019	0.992000	0.81027	-0.060000	0.11712	-1.417000	0.02017	0.533000	0.62120	CAA	.		0.473	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		C	8354204	A	C	8354204	3	2	24	1	0	0	0	0	1	0	0	0	10283	69	3	4	651	4	NDEL1	17	8354204	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	213369	8354204	72841006	751	3898											
NCOR1	9611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	15976773	15976773	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:15976773T>C	ENST00000268712.3	-	28	4038	c.3781A>G	c.(3781-3783)Agg>Ggg	p.R1261G	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1277G|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1261	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)		GGAGACTCCCTCATTGACATC	0.368																																					p.R1277G		.											.	.	.	0			c.A3829G						.						178	157	164					17																	15976773		2203	4300	6503	SO:0001583	missense	9611	exon27			ACTCCCTCATTGA	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.3781A>G	17.37:g.15976773T>C	ENSP00000268712:p.Arg1261Gly	80	0		59	28	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.880299	0.33162	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	T;T	0.52526	0.66;0.66	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.67145	0.996;0.993;0.979;0.988	D;D;P;P	0.77557	0.99;0.977;0.628;0.794	T	0.58864	-0.7561	10	0.87932	D	0	-11.2234	12.9307	0.58284	0.0:0.0:0.1347:0.8653	.	72;1168;1261;1277	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	G	1261;1277;1168	ENSP00000268712:R1261G;ENSP00000379192:R1277G	ENSP00000268712:R1261G	R	-	1	2	NCOR1	15917498	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.821000	0.48065	2.326000	0.78906	0.533000	0.62120	AGG	.		0.368	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		C	15976773	T	C	15976773	3	2	24	1	0	0	0	0	1	0	0	0	10274	1550	54	4	3617	4	NCOR1	17	15976773	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7622569	15976773	65218437	752	3899											
MPRIP	23164	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	17050634	17050634	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:17050634G>T	ENST00000341712.4	+	11	1208	c.1208G>T	c.(1207-1209)tGg>tTg	p.W403L	MPRIP_ENST00000395804.3_Splice_Site_p.W403L|MPRIP_ENST00000395811.5_Splice_Site_p.W403L|MPRIP_ENST00000444976.1_Splice_Site_p.W365L			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	403	PH 2. {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						CCCCTTTAGTGGAAGAAACAC	0.557																																					p.W403L		.											.	.	.	0			c.G1208T						.						175	162	166					17																	17050634		2203	4300	6503	SO:0001630	splice_region_variant	23164	exon11			TTTAGTGGAAGAA	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.1207-1G>T	17.37:g.17050634G>T		69	0		45	21	NM_015134	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108428	0.94292	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.4	5.4	0.78164	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.91576	0.7339	M	0.93328	3.405	0.80722	D	1	P;D	0.89917	0.669;1.0	P;D	0.97110	0.506;1.0	D	0.93146	0.6545	9	0.72032	D	0.01	.	19.5418	0.95277	0.0:0.0:1.0:0.0	.	403;403	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	L	365;403;403;403	ENSP00000400189:W365L;ENSP00000379156:W403L;ENSP00000379149:W403L;ENSP00000342379:W403L	ENSP00000342379:W403L	W	+	2	0	MPRIP	16991359	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.720000	0.98763	2.701000	0.92244	0.655000	0.94253	TGG	.		0.557	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134	Missense_Mutation	T	17050634	G	T	17050634	5	4	24	1	0	0	0	0	0	0	1	0	9781	1362	47	3	1250	3	MPRIP	17	17050634	Splice_Site	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1073861	17050634	64144576	753	3900											
SREBF1	6720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	17722483	17722483	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:17722483A>G	ENST00000261646.5	-	5	1096	c.912T>C	c.(910-912)ccT>ccC	p.P304P	SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Silent_p.P334P|SREBF1_ENST00000338854.5_Silent_p.P304P|SREBF1_ENST00000435530.2_Silent_p.P304P|SREBF1_ENST00000395757.1_Silent_p.P50P	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	304	Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GCCGGTTGATAGGCAGCTTCT	0.632																																					p.P334P		.											.	.	.	0			c.T1002C						.						70	65	66					17																	17722483		2203	4300	6503	SO:0001819	synonymous_variant	6720	exon6			GTTGATAGGCAGC	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.912T>C	17.37:g.17722483A>G		37	0		18	5	NM_001005291	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329075	0.24167	.	.	ENSG00000072310	ENST00000395751	.	.	.	4.62	1.06	0.20224	.	.	.	.	.	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28202	-1.0051	4	.	.	.	-20.5859	4.382	0.11299	0.2592:0.0:0.5848:0.156	.	.	.	.	H	312	.	.	Y	-	1	0	SREBF1	17663208	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	1.763000	0.38461	0.368000	0.24481	-0.337000	0.08149	TAT	.		0.632	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		G	17722483	A	G	17722483	2	3	24	1	0	0	0	0	0	0	0	1	15188	407	15	4		4	SREBF1	17	17722483	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	671849	17722483	63472727	754	3901											
DRG2	1819	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	18009784	18009784	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:18009784A>C	ENST00000225729.3	+	12	1130	c.992A>C	c.(991-993)aAg>aCg	p.K331T	MYO15A_ENST00000205890.5_5'Flank|DRG2_ENST00000583355.1_Missense_Mutation_p.Q137H|DRG2_ENST00000395726.4_Splice_Site_p.K331T	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	331					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)					AGCCAGTTCAAGTACGCCCTG	0.597																																					p.K331T		.											.	.	.	0			c.A992C						.						90	79	83					17																	18009784		2203	4300	6503	SO:0001583	missense	1819	exon12			AGTTCAAGTACGC	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.992A>C	17.37:g.18009784A>C	ENSP00000225729:p.Lys331Thr	41	0		20	6	NM_001388	B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380489	0.82792	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.32988	1.43;1.61	5.29	4.21	0.49690	TGS-like (1);TGS (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	H	0.96916	3.905	0.28888	N	0.894033	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70000	-0.4992	10	0.87932	D	0	-7.7015	10.6302	0.45532	0.9247:0.0:0.0753:0.0	.	331;331	A8MZF9;P55039	.;DRG2_HUMAN	T	331	ENSP00000379076:K331T;ENSP00000225729:K331T	ENSP00000225729:K331T	K	+	2	0	DRG2	17950509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.089000	0.94137	0.866000	0.35629	0.459000	0.35465	AAG	.		0.597	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		C	18009784	A	C	18009784	3	2	24	1	0	0	0	0	1	0	0	0	4776	72	3	4	1038	4	DRG2	17	18009784	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	287301	18009784	63185426	755	3902											
FLII	2314	broad.mit.edu	37	17	18156676	18156676	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:18156676T>A	ENST00000327031.4	-	9	1177	c.952A>T	c.(952-954)Aac>Tac	p.N318Y	FLII_ENST00000379450.4_Missense_Mutation_p.N233Y|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000545457.2_Missense_Mutation_p.N264Y|FLII_ENST00000579294.1_Missense_Mutation_p.N307Y|FLII_ENST00000578558.1_Missense_Mutation_p.N318Y	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	318	Interaction with LRRFIP1 and LRRFIP2.				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)					TCTTCCAGGTTGGTGAGCTTG	0.567																																					p.N318Y													.	FLII	79	0			c.A952T						.						74	66	69					17																	18156676		2203	4300	6503	SO:0001583	missense	2314	exon9			CCAGGTTGGTGAG	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.952A>T	17.37:g.18156676T>A	ENSP00000324573:p.Asn318Tyr	30	0		11	4	NM_002018	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836900	0.32421	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.27720	1.65;1.65	5.78	1.08	0.20341	.	0.259366	0.49916	D	0.000123	T	0.28167	0.0695	M	0.62016	1.91	0.34030	D	0.653751	B;B;P;B;B	0.50272	0.162;0.162;0.933;0.245;0.357	B;B;P;B;B	0.45232	0.172;0.172;0.474;0.092;0.306	T	0.36915	-0.9728	10	0.59425	D	0.04	-11.1909	3.1159	0.06375	0.1146:0.1256:0.12:0.6398	.	233;233;318;318;287	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	Y	318;318;233	ENSP00000324573:N318Y;ENSP00000368763:N233Y	ENSP00000324573:N318Y	N	-	1	0	FLII	18097401	1.000000	0.71417	0.946000	0.38457	0.305000	0.27757	3.315000	0.51951	-0.101000	0.12219	-0.264000	0.10439	AAC	.		0.567	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		A	18156676	T	A	18156676	3	1	24	1	0	0	0	0	1	0	0	0	5947	1812	63	5	2945	5	FLII	17	18156676	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	146892	18156676	63038534	756	3903											
FAM18B	51030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	18702239	18702239	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:18702239T>A	ENST00000307767.8	+	5	744	c.445T>A	c.(445-447)Ttc>Atc	p.F149I	TVP23B_ENST00000581733.1_Missense_Mutation_p.F85I|TVP23B_ENST00000476139.1_Missense_Mutation_p.F85I|TVP23B_ENST00000574226.1_Missense_Mutation_p.F149I	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	149						integral component of membrane (GO:0016021)											ACTCTTCTCCTTCAGAGTAAA	0.393																																					p.F149I		.											.	.	.	0			c.T445A						.						185	182	183					17																	18702239		2203	4300	6503	SO:0001583	missense	51030	exon5			TTCTCCTTCAGAG	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.445T>A	17.37:g.18702239T>A	ENSP00000305654:p.Phe149Ile	125	0		72	39	NM_016078	A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981598	0.53827	.	.	ENSG00000171928	ENST00000307767	T	0.44881	0.91	3.13	3.13	0.36017	.	0.050447	0.85682	D	0.000000	T	0.63379	0.2506	M	0.87456	2.885	0.58432	D	0.999993	D	0.59357	0.985	D	0.65773	0.938	T	0.67205	-0.5729	10	0.59425	D	0.04	-15.6554	9.3432	0.38093	0.0:0.0:0.0:1.0	.	149	Q9NYZ1	F18B1_HUMAN	I	149	ENSP00000305654:F149I	ENSP00000305654:F149I	F	+	1	0	FAM18B1	18642964	1.000000	0.71417	0.998000	0.56505	0.480000	0.33159	5.770000	0.68873	1.284000	0.44531	0.163000	0.16589	TTC	.		0.393	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		A	18702239	T	A	18702239	3	1	24	1	0	0	0	0	1	0	0	0	5538	1609	56	5	463	5	FAM18B	17	18702239	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	545563	18702239	62492971	757	3904											
SLC5A10	125206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	18880179	18880179	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:18880179C>A	ENST00000395645.3	+	9	877	c.859C>A	c.(859-861)Cga>Aga	p.R287R	FAM83G_ENST00000345041.4_Intron|SLC5A10_ENST00000317977.6_Silent_p.R204R|SLC5A10_ENST00000395642.1_Silent_p.R204R|FAM83G_ENST00000585154.2_Intron|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395647.2_Silent_p.R287R|SLC5A10_ENST00000395643.2_Silent_p.R260R|SLC5A10_ENST00000417251.2_Silent_p.R287R	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	287					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						CATCGTGCAGCGATCACTGTC	0.622																																					p.R287R		.											.	.	.	0			c.C859A						.						118	82	94					17																	18880179		2203	4300	6503	SO:0001819	synonymous_variant	125206	exon9			GTGCAGCGATCAC		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.859C>A	17.37:g.18880179C>A		35	0		33	7	NM_001042450	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																			.		0.622	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		A	18880179	C	A	18880179	2	1	24	1	0	0	0	0	0	0	0	1	14707	760	27	2		2	SLC5A10	17	18880179	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	177940	18880179	62315031	758	3905											
SLC47A2	146802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	19606450	19606450	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:19606450A>C	ENST00000325411.5	-	12	1207	c.1157T>G	c.(1156-1158)aTa>aGa	p.I386R	SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000350657.5_Missense_Mutation_p.I364R	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	386					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)	CAGGATGCTTATCAGGGTGCC	0.473																																					p.I386R		.											.	.	.	0			c.T1157G						.						68	65	66					17																	19606450		2203	4300	6503	SO:0001583	missense	146802	exon12			ATGCTTATCAGGG	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.1157T>G	17.37:g.19606450A>C	ENSP00000326671:p.Ile386Arg	68	0		27	10	NM_152908	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412103	0.62511	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000433844	T;T;T	0.35605	1.3;1.3;1.3	4.71	4.71	0.59529	.	0.620143	0.15488	N	0.259723	T	0.54481	0.1861	M	0.73962	2.25	0.25445	N	0.988056	P;P;P	0.51147	0.942;0.942;0.907	P;P;P	0.56865	0.712;0.785;0.808	T	0.50499	-0.8821	10	0.87932	D	0	-12.2653	12.1347	0.53964	1.0:0.0:0.0:0.0	.	350;364;386	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	R	364;386;350	ENSP00000338084:I364R;ENSP00000326671:I386R;ENSP00000391848:I350R	ENSP00000326671:I386R	I	-	2	0	SLC47A2	19547042	0.249000	0.23941	0.003000	0.11579	0.015000	0.08874	5.843000	0.69424	1.759000	0.51996	0.450000	0.29827	ATA	.		0.473	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		C	19606450	A	C	19606450	3	2	24	1	0	0	0	0	1	0	0	0	14693	449	16	4	675	4	SLC47A2	17	19606450	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	726271	19606450	61588760	759	3906											
SUPT6H	6830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	27005649	27005649	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:27005649A>C	ENST00000314616.6	+	10	1486	c.1203A>C	c.(1201-1203)gaA>gaC	p.E401D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E401D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	401	Interaction with IWS1. {ECO:0000250}.|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)					AGTGGGATGAAAAGGTAATGT	0.522																																					p.E401D		.											.	.	.	0			c.A1203C						.						102	98	100					17																	27005649		2203	4300	6503	SO:0001583	missense	6830	exon10			GGATGAAAAGGTA	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.1203A>C	17.37:g.27005649A>C	ENSP00000319104:p.Glu401Asp	82	0		41	15	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.127258	0.77549	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.45276	0.9;0.9	5.65	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.71581	2.175	0.58432	D	0.999999	D	0.59767	0.986	P	0.58210	0.835	T	0.49570	-0.8926	10	0.13470	T	0.59	-19.8912	8.6783	0.34191	0.6436:0.0:0.3564:0.0	.	401	Q7KZ85	SPT6H_HUMAN	D	401	ENSP00000319104:E401D;ENSP00000338143:E401D	ENSP00000319104:E401D	E	+	3	2	SUPT6H	24029776	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.140000	0.31516	0.419000	0.25927	0.533000	0.62120	GAA	.		0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27005649	A	C	27005649	3	2	24	1	0	0	0	0	1	0	0	0	15447	11	1	4	1237	4	SUPT6H	17	27005649	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	7399199	27005649	54189561	760	3907											
MYO18A	399687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	27493528	27493528	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:27493528C>T	ENST00000527372.1	-	2	611	c.431G>A	c.(430-432)cGt>cAt	p.R144H	MYO18A_ENST00000533112.1_Missense_Mutation_p.R144H|MYO18A_ENST00000354329.4_Missense_Mutation_p.R144H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R144H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	144	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)			ATCCCGGCTACGCTGGGAGAA	0.622																																					p.R144H	Esophageal Squamous(182;472 2015 7001 15270 22562)	.											.	.	.	0			c.G431A						.						23	28	27					17																	27493528		2063	4200	6263	SO:0001583	missense	399687	exon2			CGGCTACGCTGGG	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.431G>A	17.37:g.27493528C>T	ENSP00000437073:p.Arg144His	37	0		35	16	NM_078471	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346137	0.61073	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.88975	-2.35;-2.45;-2.34;-2.35	5.11	5.11	0.69529	.	0.125411	0.49305	D	0.000142	T	0.80417	0.4619	N	0.19112	0.55	0.31507	N	0.664121	D;D;D	0.61697	0.957;0.983;0.99	P;P;B	0.45449	0.481;0.481;0.374	T	0.80692	-0.1269	10	0.44086	T	0.13	.	6.1101	0.20096	0.0:0.782:0.0:0.218	.	144;144;144	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	H	144	ENSP00000346291:R144H;ENSP00000435932:R144H;ENSP00000434228:R144H;ENSP00000437073:R144H	ENSP00000346291:R144H	R	-	2	0	MYO18A	24517654	0.896000	0.30565	0.987000	0.45799	0.996000	0.88848	1.642000	0.37207	2.660000	0.90430	0.467000	0.42956	CGT	.		0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27493528	C	T	27493528	3	4	24	1	0	0	0	0	1	0	0	0	10103	536	19	1	5897	1	MYO18A	17	27493528	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	487879	27493528	53701682	761	3908											
ATAD5	79915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	29220580	29220580	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:29220580T>A	ENST00000321990.4	+	21	5087	c.4709T>A	c.(4708-4710)tTg>tAg	p.L1570*		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1570					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)				AAGAAAACATTGGTAATATTA	0.368																																					p.L1570X		.											.	.	.	0			c.T4709A						.						41	45	44					17																	29220580		2203	4296	6499	SO:0001587	stop_gained	79915	exon21			AAACATTGGTAAT		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.4709T>A	17.37:g.29220580T>A	ENSP00000313171:p.Leu1570*	47	0		26	11	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Nonsense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	42	9.822497	0.99272	.	.	ENSG00000176208	ENST00000321990	.	.	.	6.08	6.08	0.98989	.	0.905145	0.09917	N	0.738999	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2831	0.54776	0.1269:0.0:0.0:0.8731	.	.	.	.	X	1570	.	ENSP00000313171:L1570X	L	+	2	0	ATAD5	26244706	0.998000	0.40836	0.803000	0.32268	0.019000	0.09904	3.120000	0.50430	2.333000	0.79357	0.482000	0.46254	TTG	.		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		A	29220580	T	A	29220580	4	1	24	1	0	0	0	0	0	1	0	0	1077	1821	63	5	4791	5	ATAD5	17	29220580	Nonsense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1727052	29220580	51974630	762	3909											
CDK12	51755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	37687154	37687154	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:37687154C>T	ENST00000447079.4	+	14	4091	c.4058C>T	c.(4057-4059)aCt>aTt	p.T1353I	CDK12_ENST00000430627.2_Missense_Mutation_p.T1344I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1353					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						GCCATTGACACTGATGAACGA	0.547			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																											p.T1353I		.		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	.	.	0			c.C4058T						.						81	77	78					17																	37687154		2203	4300	6503	SO:0001583	missense	51755	exon14			TTGACACTGATGA	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.4058C>T	17.37:g.37687154C>T	ENSP00000398880:p.Thr1353Ile	60	0		29	12	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	9.422	1.083218	0.20309	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.68624	-0.34;-0.32	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000106	T	0.44435	0.1293	N	0.08118	0	0.27724	N	0.94502	B;B	0.24426	0.063;0.103	B;B	0.24269	0.023;0.052	T	0.35798	-0.9774	10	0.56958	D	0.05	-11.7716	8.1005	0.30854	0.0:0.8371:0.0:0.1629	.	1353;1344	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	I	1344;1353	ENSP00000407720:T1344I;ENSP00000398880:T1353I	ENSP00000407720:T1344I	T	+	2	0	CDK12	34940680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.943000	0.40253	2.836000	0.97738	0.655000	0.94253	ACT	.		0.547	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37687154	C	T	37687154	3	4	24	1	0	0	0	0	1	0	0	0	3135	565	20	3	4112	3	CDK12	17	37687154	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	8466574	37687154	43508056	763	3910											
ERBB2	2064	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	37883077	37883077	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:37883077T>G	ENST00000269571.5	+	25	3139	c.2980T>G	c.(2980-2982)Ttg>Gtg	p.L994V	ERBB2_ENST00000584450.1_Missense_Mutation_p.L994V|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.L964V|ERBB2_ENST00000406381.2_Missense_Mutation_p.L964V|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000540147.1_Missense_Mutation_p.L964V|ERBB2_ENST00000445658.2_Missense_Mutation_p.L718V|ERBB2_ENST00000541774.1_Missense_Mutation_p.L979V			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	994					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)	GAATGAGGACTTGGGCCCAGC	0.617		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																											p.L994V		.		Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	.	.	.	0			c.T2980G						.						71	71	71					17																	37883077		2203	4300	6503	SO:0001583	missense	2064	exon25			GAGGACTTGGGCC	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.2980T>G	17.37:g.37883077T>G	ENSP00000269571:p.Leu994Val	34	0		18	8	NM_004448	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762908	0.31228	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.76186	-1.0;-1.0;-0.98;-1.0;-1.0	5.35	-6.07	0.02158	Protein kinase-like domain (1);	.	.	.	.	T	0.60534	0.2276	L	0.46157	1.445	0.44508	D	0.997455	B;B;B	0.23806	0.0;0.091;0.068	B;B;B	0.22601	0.001;0.027;0.04	T	0.17167	-1.0378	9	0.45353	T	0.12	.	8.1316	0.31031	0.3345:0.4832:0.0:0.1823	.	718;979;994	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	V	964;979;718;994;964	ENSP00000385185:L964V;ENSP00000446466:L979V;ENSP00000404047:L718V;ENSP00000269571:L994V;ENSP00000443562:L964V	ENSP00000269571:L994V	L	+	1	2	ERBB2	35136603	0.003000	0.15002	0.514000	0.27761	0.985000	0.73830	-0.308000	0.08156	-1.454000	0.01926	0.533000	0.62120	TTG	.		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			G	37883077	T	G	37883077	3	3	24	1	0	0	0	0	1	0	0	0	5222	1606	56	4	3078	4	ERBB2	17	37883077	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	195923	37883077	43312133	764	3911											
TOP2A	7153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38574040	38574040	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:38574040C>T	ENST00000423485.1	-	1	162	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	2					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)	GGTGACACTTCCATGGTGACG	0.667																																					p.E2K		.											.	.	.	0			c.G4A						.						28	35	33					17																	38574040		1925	4106	6031	SO:0001583	missense	7153	exon1			ACACTTCCATGGT		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.4G>A	17.37:g.38574040C>T	ENSP00000411532:p.Glu2Lys	94	0		74	30	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898148	0.72639	.	.	ENSG00000131747	ENST00000423485;ENST00000357601	T	0.22945	1.93	5.03	5.03	0.67393	.	.	.	.	.	T	0.19604	0.0471	N	0.22421	0.69	0.21386	N	0.999709	B	0.26635	0.155	B	0.18263	0.021	T	0.12041	-1.0563	9	0.66056	D	0.02	.	14.0488	0.64722	0.0:1.0:0.0:0.0	.	2	P11388	TOP2A_HUMAN	K	2	ENSP00000411532:E2K	ENSP00000350217:E2K	E	-	1	0	TOP2A	35827566	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	2.111000	0.41883	2.771000	0.95319	0.561000	0.74099	GAA	.		0.667	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			T	38574040	C	T	38574040	3	4	24	1	0	0	0	0	1	0	0	0	16413	864	30	3	4731	3	TOP2A	17	38574040	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	690963	38574040	42621170	765	3912											
KRT10	3858	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	38976869	38976869	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:38976869C>A	ENST00000269576.5	-	3	770	c.761G>T	c.(760-762)gGc>gTc	p.G254V	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	254	Coil 1B.|Gly-rich.|Rod.				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)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CCTACGCAGGCCGTTGATGTC	0.502																																					p.G254V		.											.	.	.	0			c.G761T						.						104	100	102					17																	38976869		2203	4300	6503	SO:0001583	missense	3858	exon3			CGCAGGCCGTTGA	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.761G>T	17.37:g.38976869C>A	ENSP00000269576:p.Gly254Val	40	0		28	12	NM_000421	Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917935	0.73098	.	.	ENSG00000186395	ENST00000269576	D	0.83075	-1.68	5.84	5.84	0.93424	Filament (1);	0.000000	0.36932	N	0.002326	D	0.92289	0.7554	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92543	0.6043	10	0.87932	D	0	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	254	P13645	K1C10_HUMAN	V	254	ENSP00000269576:G254V	ENSP00000269576:G254V	G	-	2	0	KRT10	36230395	0.001000	0.12720	0.660000	0.29694	0.930000	0.56654	1.336000	0.33850	2.758000	0.94735	0.655000	0.94253	GGC	.		0.502	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		A	38976869	C	A	38976869	3	1	24	1	0	0	0	0	1	0	0	0	8475	739	26	3	1017	3	KRT10	17	38976869	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	402829	38976869	42218341	766	3913											
ACLY	47	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	40049390	40049390	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:40049390G>A	ENST00000352035.2	-	15	1627	c.1497C>T	c.(1495-1497)gcC>gcT	p.A499A	ACLY_ENST00000353196.1_Silent_p.A489A|ACLY_ENST00000537919.1_Silent_p.A228A|ACLY_ENST00000590151.1_Silent_p.A499A|ACLY_ENST00000393896.2_Silent_p.A489A	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	499					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCACACAATGGCCTTGGTGT	0.612																																					p.A499A	Colon(64;807 1396 15971 30971)	.											.	.	.	0			c.C1497T						.						96	93	94					17																	40049390		2203	4300	6503	SO:0001819	synonymous_variant	47	exon15			CACAATGGCCTTG	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1497C>T	17.37:g.40049390G>A		39	0		27	15	NM_001096	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																			.		0.612	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		A	40049390	G	A	40049390	2	1	24	1	0	0	0	0	0	0	0	1	143	1335	47	3		3	ACLY	17	40049390	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1072521	40049390	41145820	767	3914											
NAGLU	4669	hgsc.bcm.edu	37	17	40689478	40689478	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:40689478G>A	ENST00000225927.2	+	2	547	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	149					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GACTGGGCCCGCTGGGAGCGA	0.627																																					p.R149H		.											NAGLU,colon,carcinoma,0,1	NAGLU	0	0			c.G446A						.						134	118	124					17																	40689478		2203	4300	6503	SO:0001583	missense	4669	exon2			GGGCCCGCTGGGA		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.446G>A	17.37:g.40689478G>A	ENSP00000225927:p.Arg149His	51	0		26	2	NM_000263		Missense_Mutation	SNP	ENST00000225927.2	37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901269	0.92035	.	.	ENSG00000108784	ENST00000225927	D	0.98987	-5.3	4.3	3.33	0.38152	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.93375	3.41	0.49483	D	0.999795	D	0.89917	1.0	D	0.74348	0.983	D	0.99078	1.0836	10	0.87932	D	0	-20.5556	11.4866	0.50356	0.09:0.0:0.91:0.0	.	149	P54802	ANAG_HUMAN	H	149	ENSP00000225927:R149H	ENSP00000225927:R149H	R	+	2	0	NAGLU	37943004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.396000	0.73234	1.142000	0.42291	-0.254000	0.11334	CGC	.		0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		A	40689478	G	A	40689478	3	1	24	1	0	0	0	0	1	0	0	0	10181	1087	38	1	452	1	NAGLU	17	40689478	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	640088	40689478	40505732	768	3915											
PLEKHH3	79990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	40823409	40823409	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:40823409G>A	ENST00000591022.1	-	8	1631	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A415V|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A415V	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	415	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACAGCACAGGCACCAGCCCC	0.677																																					p.A415V		.											.	.	.	0			c.C1244T						.						36	29	32					17																	40823409		2202	4298	6500	SO:0001583	missense	79990	exon8			GCACAGGCACCAG	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1244C>T	17.37:g.40823409G>A	ENSP00000468678:p.Ala415Val	113	0		57	22	NM_024927	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379841	0.82682	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	T;T	0.16457	2.34;2.34	4.99	4.99	0.66335	Band 4.1 domain (1);FERM domain (1);Ras-association (1);	0.000000	0.46442	D	0.000294	T	0.27697	0.0681	L	0.29908	0.895	0.43512	D	0.995773	D;D	0.63880	0.993;0.99	D;P	0.63033	0.91;0.87	T	0.02238	-1.1190	10	0.22706	T	0.39	-19.6906	17.911	0.88934	0.0:0.0:1.0:0.0	.	415;415	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	V	77;415;415	ENSP00000293349:A415V;ENSP00000411885:A415V	ENSP00000293349:A415V	A	-	2	0	PLEKHH3	38076935	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	5.396000	0.66297	2.337000	0.79520	0.561000	0.74099	GCC	.		0.677	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		A	40823409	G	A	40823409	3	1	24	1	0	0	0	0	1	0	0	0	12117	1203	42	3	1161	3	PLEKHH3	17	40823409	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	133931	40823409	40371801	769	3916											
WNK4	65266	hgsc.bcm.edu	37	17	40946837	40946838	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:40946837_40946838insTC	ENST00000246914.5	+	14	2419_2420	c.2398_2399insTC	c.(2398-2400)ttcfs	p.F800fs		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	800					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)		CTGGACAGCCTTCTCCACCTCC	0.569																																					p.F800fs	Esophageal Squamous(6;201 374 4964 23855 42828)	.											.	.	.	0			c.2398_2399insTC						.																																			SO:0001589	frameshift_variant	65266	exon14			ACAGCCTTCTCCA	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.2401_2402dupTC	17.37:g.40946840_40946841dupTC	ENSP00000246914:p.Phe800fs	56	0		39	0	NM_032387	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Frame_Shift_Ins	INS	ENST00000246914.5	37	CCDS11439.1																																																																																			.		0.569	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			TC	40946838	-	TC	40946837	7	5	24	1	0	1	1	0	0	0	0	0	17429	1609	56	0	2452	0	WNK4	17	40946837	Frame_Shift_Ins	INS	-	TCGA-W5-AA39-01A-11D-A417-09	123428	40946837	40248373	770	3917											
RUNDC3A	10900	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	42395541	42395541	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:42395541T>G	ENST00000426726.3	+	11	1550	c.1276T>G	c.(1276-1278)Ttc>Gtc	p.F426V	AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	426					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)		CCTGGCGAGCTTCAAATCCAA	0.672																																					p.F426V	Pancreas(82;1061 1416 11136 20771 23901)	.											.	.	.	0			c.T1276G						.						49	50	50					17																	42395541		692	1591	2283	SO:0001583	missense	10900	exon11			GCGAGCTTCAAAT	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.1276T>G	17.37:g.42395541T>G	ENSP00000410862:p.Phe426Val	82	0		27	10	NM_001144825	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.167036	0.57476	.	.	ENSG00000108309	ENST00000426726	T	0.21734	1.99	4.81	4.81	0.61882	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.80722	D	1	B	0.20261	0.043	B	0.19946	0.027	T	0.13176	-1.0519	9	0.41790	T	0.15	-14.4968	5.9081	0.19012	0.0:0.1821:0.0:0.8179	.	426	Q59EK9	RUN3A_HUMAN	V	426	ENSP00000410862:F426V	ENSP00000410862:F426V	F	+	1	0	RUNDC3A	39751067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.354000	0.59417	2.005000	0.58758	0.459000	0.35465	TTC	.		0.672	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		G	42395541	T	G	42395541	3	3	24	1	0	0	0	0	1	0	0	0	13789	1609	56	4	1342	4	RUNDC3A	17	42395541	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1448704	42395541	38799669	771	3918											
ABI3	51225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	47299925	47299925	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:47299925T>C	ENST00000225941.1	+	8	1447	c.949T>C	c.(949-951)Tac>Cac	p.Y317H	ABI3_ENST00000419580.2_Missense_Mutation_p.Y311H	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	317	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			GGTGACACTGTACCCATACAC	0.597										HNSCC(55;0.14)																											p.Y317H		.											.	.	.	0			c.T949C						.						126	91	103					17																	47299925		2203	4300	6503	SO:0001583	missense	51225	exon8			ACACTGTACCCAT	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.949T>C	17.37:g.47299925T>C	ENSP00000225941:p.Tyr317His	32	0		24	10	NM_016428	C9IZN8|Q9H0P6	Missense_Mutation	SNP	ENST00000225941.1	37	CCDS11546.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235592	0.58886	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	T;T	0.55760	0.5;0.5	5.17	4.07	0.47477	Src homology-3 domain (5);	0.083490	0.49916	N	0.000136	T	0.55529	0.1926	M	0.82193	2.58	0.80722	D	1	B;B	0.27316	0.145;0.175	B;B	0.29524	0.062;0.103	T	0.56829	-0.7914	10	0.72032	D	0.01	-10.8905	9.4854	0.38926	0.0:0.0828:0.0:0.9172	.	311;317	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	H	317;311	ENSP00000225941:Y317H;ENSP00000406651:Y311H	ENSP00000225941:Y317H	Y	+	1	0	ABI3	44654924	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.673000	0.68109	0.780000	0.33566	0.379000	0.24179	TAC	.		0.597	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		C	47299925	T	C	47299925	3	2	24	1	0	0	0	0	1	0	0	0	90	1638	57	4	979	4	ABI3	17	47299925	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4904384	47299925	33895285	772	3919											
ABCC3	8714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	48745811	48745811	+	Silent	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:48745811G>C	ENST00000285238.8	+	14	1883	c.1803G>C	c.(1801-1803)cgG>cgC	p.R601R		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	601					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)	CTCTGAAACGGATCCAGCAAT	0.592																																					p.R601R		.											.	.	.	0			c.G1803C						.						102	96	98					17																	48745811		2203	4300	6503	SO:0001819	synonymous_variant	8714	exon14			GAAACGGATCCAG	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.1803G>C	17.37:g.48745811G>C		82	0		46	16	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	CCDS32681.1																																																																																			.		0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		C	48745811	G	C	48745811	2	2	24	1	0	0	0	0	0	0	0	1	54	1161	41	5		5	ABCC3	17	48745811	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1445886	48745811	32449399	773	3920											
ABCC3	8714	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	48753044	48753044	+	Silent	SNP	C	C	A	rs371874263		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:48753044C>A	ENST00000285238.8	+	21	2847	c.2767C>A	c.(2767-2769)Cgg>Agg	p.R923R	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	923					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)	GCCTGTACCCCGGAGGCACCT	0.652																																					p.R923R													.	ABCC3	138	0			c.C2767A						.						25	25	25					17																	48753044		2196	4294	6490	SO:0001819	synonymous_variant	8714	exon21			GTACCCCGGAGGC	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.2767C>A	17.37:g.48753044C>A		24	0		13	8	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	4.801	0.148971	0.09185	.	.	ENSG00000108846	ENST00000513745	D	0.88975	-2.45	5.67	-4.36	0.03645	.	.	.	.	.	D	0.82360	0.5020	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.66272	-0.5965	6	0.13108	T	0.6	-12.9521	17.0214	0.86434	0.7886:0.2114:0.0:0.0	.	.	.	.	Q	71	ENSP00000421755:P71Q	ENSP00000421755:P71Q	P	+	2	0	ABCC3	46108043	0.096000	0.21769	0.000000	0.03702	0.006000	0.05464	0.169000	0.16641	-0.233000	0.09797	-0.182000	0.12963	CCG	.		0.652	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48753044	C	A	48753044	2	1	24	1	0	0	0	0	0	0	0	1	54	643	23	2		2	ABCC3	17	48753044	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	7233	48753044	32442166	774	3921											
SFRS1	6426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	56082914	56082914	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:56082914T>G	ENST00000258962.4	-	4	808	c.600A>C	c.(598-600)ccA>ccC	p.P200P	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000584773.1_Silent_p.P200P|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	200	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				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						TTCCATAACTTGGACTTCTGG	0.473																																					p.P200P		.											.	.	.	0			c.A600C						.						133	130	131					17																	56082914		2203	4300	6503	SO:0001819	synonymous_variant	6426	exon4			ATAACTTGGACTT		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.600A>C	17.37:g.56082914T>G		31	0		31	10	NM_006924	B2R6Z7|D3DTZ3|Q13809	Silent	SNP	ENST00000258962.4	37	CCDS11600.1																																																																																			.		0.473	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		G	56082914	T	G	56082914	2	3	24	1	0	0	0	0	0	0	0	1	14210	1799	63	4		4	SFRS1	17	56082914	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7329870	56082914	25112296	775	3922											
DHX40	79665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	57643997	57643997	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:57643997G>A	ENST00000251241.4	+	2	269	c.122G>A	c.(121-123)gGa>gAa	p.G41E	DHX40_ENST00000451169.2_De_novo_Start_OutOfFrame|DHX40_ENST00000425628.3_Missense_Mutation_p.G41E	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	41							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)					GAAGAGAAAGGATGCACGTCC	0.348																																					p.G41E		.											.	.	.	0			c.G122A						.						37	36	37					17																	57643997		2203	4300	6503	SO:0001583	missense	79665	exon2			AGAAAGGATGCAC	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.122G>A	17.37:g.57643997G>A	ENSP00000251241:p.Gly41Glu	103	0		58	18	NM_024612	B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634301	0.29068	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628	T;T	0.02656	4.23;4.21	5.47	4.5	0.54988	.	0.128058	0.35615	N	0.003085	T	0.01695	0.0054	N	0.08118	0	0.80722	D	1	B;B	0.22003	0.013;0.063	B;B	0.19666	0.025;0.026	T	0.56135	-0.8029	10	0.39692	T	0.17	.	6.3079	0.21149	0.0913:0.0:0.7245:0.1842	.	41;41	F5H625;Q8IX18	.;DHX40_HUMAN	E	41	ENSP00000251241:G41E;ENSP00000388749:G41E	ENSP00000251241:G41E	G	+	2	0	DHX40	54998779	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.317000	0.43770	2.567000	0.86603	0.561000	0.74099	GGA	.		0.348	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		A	57643997	G	A	57643997	3	1	24	1	0	0	0	0	1	0	0	0	4526	1174	41	3	128	3	DHX40	17	57643997	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1561083	57643997	23551213	776	3923											
INTS2	57508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	59952332	59952332	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:59952332G>T	ENST00000444766.3	-	19	2623	c.2548C>A	c.(2548-2550)Cag>Aag	p.Q850K	INTS2_ENST00000251334.6_Missense_Mutation_p.Q842K|Y_RNA_ENST00000365491.1_RNA	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	850					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						AGGTCATTCTGAGTATACTTT	0.363																																					p.Q850K		.											.	.	.	0			c.C2548A						.						56	55	55					17																	59952332		1871	4102	5973	SO:0001583	missense	57508	exon19			CATTCTGAGTATA	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.2548C>A	17.37:g.59952332G>T	ENSP00000414237:p.Gln850Lys	58	0		52	20	NM_020748	Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377422	0.82682	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.43294	0.95	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	L	0.61218	1.895	0.80722	D	1	P	0.43578	0.811	P	0.60789	0.879	T	0.57027	-0.7881	9	.	.	.	-7.2956	17.8928	0.88877	0.0:0.0:1.0:0.0	.	850	Q9H0H0	INT2_HUMAN	K	850;849	ENSP00000414237:Q850K	.	Q	-	1	0	INTS2	57307114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.182000	0.94881	2.521000	0.84997	0.650000	0.86243	CAG	.		0.363	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		T	59952332	G	T	59952332	3	4	24	1	0	0	0	0	1	0	0	0	7805	1299	45	3	1094	3	INTS2	17	59952332	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2308335	59952332	21242878	777	3924											
DCAF7	10238	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	61660866	61660866	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:61660866T>C	ENST00000310827.4	+	5	749	c.532T>C	c.(532-534)Tat>Cat	p.Y178H	DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	178					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CCAACAGGTCTATGATATTGC	0.522																																					p.Y178H		.											.	.	.	0			c.T532C						.						48	49	49					17																	61660866		1955	4147	6102	SO:0001583	missense	10238	exon5			CAGGTCTATGATA	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.532T>C	17.37:g.61660866T>C	ENSP00000308344:p.Tyr178His	108	0		63	27	NM_005828	B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37		.	.	.	.	.	.	.	.	.	.	T	15.14	2.746512	0.49257	.	.	ENSG00000136485	ENST00000310827	T	0.60548	0.18	5.29	4.21	0.49690	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	0.56572	0.1994	L	0.46819	1.47	0.80722	D	1	B	0.27823	0.19	B	0.40375	0.327	T	0.52064	-0.8625	10	0.30854	T	0.27	-22.3377	11.6764	0.51432	0.1327:0.0:0.0:0.8673	.	178	P61962	DCAF7_HUMAN	H	178	ENSP00000308344:Y178H	ENSP00000308344:Y178H	Y	+	1	0	DCAF7	59014598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.846000	0.86887	1.011000	0.39340	0.533000	0.62120	TAT	.		0.522	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		C	61660866	T	C	61660866	3	2	24	1	0	0	0	0	1	0	0	0	4284	1522	53	4	550	4	DCAF7	17	61660866	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1708534	61660866	19534344	778	3925											
ERN1	2081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	62142632	62142632	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:62142632A>G	ENST00000433197.3	-	9	953	c.858T>C	c.(856-858)gtT>gtC	p.V286V	ERN1_ENST00000577567.1_5'Flank	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						AGTATTTCCCAACATACAGAG	0.502																																					p.V286V		.											.	.	.	0			c.T858C						.						52	51	51					17																	62142632		1922	4135	6057	SO:0001819	synonymous_variant	2081	exon9			TTTCCCAACATAC	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.858T>C	17.37:g.62142632A>G		63	0		24	9	NM_001433		Silent	SNP	ENST00000433197.3	37	CCDS45762.1																																																																																			.		0.502	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		G	62142632	A	G	62142632	2	3	24	1	0	0	0	0	0	0	0	1	5253	117	5	4		4	ERN1	17	62142632	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	481766	62142632	19052578	779	3926											
TEX2	55852	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	62272276	62272283	+	Frame_Shift_Del	DEL	GATTTTCT	GATTTTCT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GATTTTCT	GATTTTCT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:62272276_62272283delGATTTTCT	ENST00000583097.1	-	3	1989_1996	c.1817_1824delAGAAAATC	c.(1816-1824)cagaaaatcfs	p.QKI606fs	TEX2_ENST00000258991.3_Frame_Shift_Del_p.QKI606fs|TEX2_ENST00000584379.1_Frame_Shift_Del_p.QKI606fs			Q8IWB9	TEX2_HUMAN	testis expressed 2	606					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)		AGAGGTCATAGATTTTCTGGCTGATGTA	0.433																																					p.606_609del		.											.	.	.	0			c.1818_1825del						.																																			SO:0001589	frameshift_variant	55852	exon3			GTCATAGATTTTC	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.1817_1824delAGAAAATC	17.37:g.62272276_62272283delGATTTTCT	ENSP00000462665:p.Gln606fs	68	0		37	11	NM_018469	Q6AHZ5|Q8N3L0|Q9C0C5	Frame_Shift_Del	DEL	ENST00000583097.1	37																																																																																				.		0.433	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		-	62272283	GATTTTCT	-	62272276	7	5	24	1	0	1	0	1	0	0	0	0	15828	932	33	0	1620	0	TEX2	17	62272276	Frame_Shift_Del	DEL	GATTTTCT	TCGA-W5-AA39-01A-11D-A417-09	129644	62272276	18922934	780	3927											
AXIN2	8313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	63526145	63526145	+	Silent	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:63526145C>A	ENST00000375702.5	-	9	2394	c.2286G>T	c.(2284-2286)gtG>gtT	p.V762V	AXIN2_ENST00000307078.5_Silent_p.V827V			Q9Y2T1	AXIN2_HUMAN	axin 2	827	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ACATCGGGAGCACCGTCTCAT	0.502									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.V827V		.											.	.	.	0			c.G2481T						.						135	117	123					17																	63526145		2203	4300	6503	SO:0001819	synonymous_variant	8313	exon11	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	CGGGAGCACCGTC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.2286G>T	17.37:g.63526145C>A		38	0		22	6	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37																																																																																				.		0.502	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		A	63526145	C	A	63526145	2	1	24	1	0	0	0	0	0	0	0	1	1238	697	25	3		3	AXIN2	17	63526145	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1253869	63526145	17669065	781	3928											
ABCA9	10350	broad.mit.edu;bcgsc.ca	37	17	67014691	67014706	+	Frame_Shift_Del	DEL	GGGATAAAGCTAATAC	GGGATAAAGCTAATAC	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:67014691_67014706delGGGATAAAGCTAATAC	ENST00000340001.4	-	20	2826_2841	c.2615_2630delGTATTAGCTTTATCCC	c.(2614-2631)ggtattagctttatccctfs	p.GISFIP872fs	ABCA9_ENST00000370732.2_Frame_Shift_Del_p.GISFIP872fs|ABCA9_ENST00000453985.2_Frame_Shift_Del_p.GISFIP872fs|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	872					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)					CAAAAGTTGAGGGATAAAGCTAATACCAAAAAGCAA	0.333																																					p.872_877del													.	ABCA9	192	0			c.2615_2630del						.																																			SO:0001589	frameshift_variant	10350	exon20			AGTTGAGGGATAA	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.2615_2630delGTATTAGCTTTATCCC	17.37:g.67014691_67014706delGGGATAAAGCTAATAC	ENSP00000342216:p.Gly872fs	49	0		23	6	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Frame_Shift_Del	DEL	ENST00000340001.4	37	CCDS11681.1																																																																																			.		0.333	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		-	67014706	GGGATAAAGCTAATAC	-	67014691	7	5	24	1	0	1	0	1	0	0	0	0	39	1000	35	0	2324	0	ABCA9	17	67014691	Frame_Shift_Del	DEL	GGGATAAAGCTAATAC	TCGA-W5-AA39-01A-11D-A417-09	3488546	67014691	14180519	782	3929											
CDR2L	30850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	72997553	72997553	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:72997553G>C	ENST00000337231.5	+	3	722	c.310G>C	c.(310-312)Gag>Cag	p.E104Q		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	104												all_lung(278;0.226)					GCTGGTGCTGGAGAGTAAGGC	0.672																																					p.E104Q		.											.	.	.	0			c.G310C						.						34	25	28					17																	72997553		2201	4292	6493	SO:0001583	missense	30850	exon3			GTGCTGGAGAGTA		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.310G>C	17.37:g.72997553G>C	ENSP00000336587:p.Glu104Gln	57	0		22	11	NM_014603	B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	37	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	G	34	5.374957	0.95923	.	.	ENSG00000109089	ENST00000337231	T	0.53423	0.62	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	M	0.86420	2.815	0.80722	D	1	D	0.61080	0.989	P	0.55923	0.787	T	0.68236	-0.5462	10	0.23891	T	0.37	-29.7136	18.8348	0.92157	0.0:0.0:1.0:0.0	.	104	Q86X02	CDR2L_HUMAN	Q	104	ENSP00000336587:E104Q	ENSP00000336587:E104Q	E	+	1	0	CDR2L	70509148	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.511000	0.84671	0.585000	0.79938	GAG	.		0.672	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603		C	72997553	G	C	72997553	3	2	24	1	0	0	0	0	1	0	0	0	3180	1175	41	5	320	5	CDR2L	17	72997553	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	5982862	72997553	8197657	783	3930											
ITGB4	3691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	73738739	73738739	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:73738739G>C	ENST00000200181.3	+	25	3046	c.2859G>C	c.(2857-2859)gaG>gaC	p.E953D	ITGB4_ENST00000339591.3_Missense_Mutation_p.E953D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E953D|ITGB4_ENST00000450894.3_Missense_Mutation_p.E953D|ITGB4_ENST00000449880.2_Missense_Mutation_p.E953D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	953					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)			TCCGGCCTGAGGATGACGACG	0.662																																					p.E953D		.											.	.	.	0			c.G2859C						.						83	65	71					17																	73738739		2203	4300	6503	SO:0001583	missense	3691	exon25			GCCTGAGGATGAC		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.2859G>C	17.37:g.73738739G>C	ENSP00000200181:p.Glu953Asp	49	0		28	14	NM_001005731	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047580	0.36085	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.75704	-0.96;-0.92;-0.92	5.52	0.983	0.19767	.	0.194847	0.43747	D	0.000526	T	0.47507	0.1449	N	0.12746	0.255	0.46279	D	0.998961	B;B;B	0.26120	0.142;0.049;0.088	B;B;B	0.24541	0.054;0.024;0.024	T	0.20739	-1.0266	10	0.32370	T	0.25	.	2.3637	0.04314	0.2339:0.105:0.4959:0.1652	.	953;953;953	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	D	953	ENSP00000200181:E953D;ENSP00000344079:E953D;ENSP00000400217:E953D	ENSP00000200181:E953D	E	+	3	2	ITGB4	71250334	0.994000	0.37717	0.989000	0.46669	0.762000	0.43233	0.194000	0.17135	0.723000	0.32274	0.655000	0.94253	GAG	.		0.662	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			C	73738739	G	C	73738739	3	2	24	1	0	0	0	0	1	0	0	0	7924	991	35	5	2953	5	ITGB4	17	73738739	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	741186	73738739	7456471	784	3931											
ITGB4	3691	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	73751914	73751914	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:73751914A>G	ENST00000200181.3	+	35	4878	c.4691A>G	c.(4690-4692)tAc>tGc	p.Y1564C	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.Y1547C|ITGB4_ENST00000579662.1_Missense_Mutation_p.Y1494C|ITGB4_ENST00000450894.3_Missense_Mutation_p.Y1494C|ITGB4_ENST00000449880.2_Missense_Mutation_p.Y1547C	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1564	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGTGTGGAGTACCAGCTGCTG	0.677																																					p.Y1564C		.											.	.	.	0			c.A4691G						.						23	24	24					17																	73751914		2202	4297	6499	SO:0001583	missense	3691	exon35			TGGAGTACCAGCT		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.4691A>G	17.37:g.73751914A>G	ENSP00000200181:p.Tyr1564Cys	20	0		23	10	NM_000213	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671825	0.47781	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.61274	0.12;0.12;0.12	5.43	5.43	0.79202	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71728	0.3374	L	0.53671	1.685	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	0.72646	-0.4230	10	0.49607	T	0.09	.	15.4761	0.75481	1.0:0.0:0.0:0.0	.	1547;1494;1564	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	C	1564;1547;1547	ENSP00000200181:Y1564C;ENSP00000344079:Y1547C;ENSP00000400217:Y1547C	ENSP00000200181:Y1564C	Y	+	2	0	ITGB4	71263509	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.339000	0.96797	2.078000	0.62432	0.459000	0.35465	TAC	.		0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			G	73751914	A	G	73751914	3	3	24	1	0	0	0	0	1	0	0	0	7924	391	14	4	4988	4	ITGB4	17	73751914	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	13175	73751914	7443296	785	3932											
WBP2	23558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	73847681	73847681	+	Nonsense_Mutation	SNP	T	T	A	rs149300980		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:73847681T>A	ENST00000591399.1	-	3	560	c.136A>T	c.(136-138)Aag>Tag	p.K46*	WBP2_ENST00000344296.4_Nonsense_Mutation_p.K24*|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000590221.1_Nonsense_Mutation_p.K46*|WBP2_ENST00000585462.1_Nonsense_Mutation_p.K24*|WBP2_ENST00000433525.2_Nonsense_Mutation_p.K46*|WBP2_ENST00000254806.3_Nonsense_Mutation_p.K46*			Q969T9	WBP2_HUMAN	WW domain binding protein 2	46	GRAM.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGCCTTTCTTGGTCCCTTTG	0.488																																					p.K46X		.											.	.	.	0			c.A136T						.						327	269	289					17																	73847681		2203	4300	6503	SO:0001587	stop_gained	23558	exon2			CTTTCTTGGTCCC	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.136A>T	17.37:g.73847681T>A	ENSP00000467579:p.Lys46*	58	0		40	16	NM_012478	O95638	Nonsense_Mutation	SNP	ENST00000591399.1	37	CCDS11731.1	.	.	.	.	.	.	.	.	.	.	T	35	5.478913	0.96291	.	.	ENSG00000132471	ENST00000254806;ENST00000344296;ENST00000433525;ENST00000431190;ENST00000416574	.	.	.	4.72	4.72	0.59763	.	0.091855	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8521	14.4925	0.67660	0.0:0.0:0.0:1.0	.	.	.	.	X	46;24;46;46;46	.	ENSP00000254806:K46X	K	-	1	0	WBP2	71359276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.826000	0.86716	1.877000	0.54381	0.459000	0.35465	AAG	.		0.488	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		A	73847681	T	A	73847681	4	1	24	1	0	0	0	0	0	1	0	0	17308	1821	63	5	677	5	WBP2	17	73847681	Nonsense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	95767	73847681	7347529	786	3933											
MGAT5B	146664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	74936851	74936852	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GC	GC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:74936851_74936852GC>TT	ENST00000569840.2	+	15	2343_2344	c.1769_1770GC>TT	c.(1768-1770)gGC>gTT	p.G590V	MGAT5B_ENST00000301618.4_Missense_Mutation_p.G588V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G599V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	590					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						AACTTCATCGGCAAGCCCCACG	0.545																																					p.G599V		.											.	.	.	0			c.C1797T						.																																			SO:0001583	missense	146664	exon13			CATCGGCAAGCCC	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	Exception_encountered	17.37:g.74936851_74936852delinsTT	ENSP00000456037:p.Gly590Val	33	0		23	4	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	DNP	ENST00000569840.2	37	CCDS59299.1																																																																																			.		0.545	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		TT	74936852	GC	TT	74936851	3	4	24	1	0	0	0	0	1	0	0	0	9587	1203	42	3	1918	3	MGAT5B	17	74936851	Missense_Mutation	DNP	GC	TCGA-W5-AA39-01A-11D-A417-09	1089170	74936851	6258359	787	3934											
C17orf70	80233	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	79514062	79514062	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:79514062A>C	ENST00000327787.8	-	5	2092	c.2046T>G	c.(2044-2046)acT>acG	p.T682T	C17orf70_ENST00000537152.1_Silent_p.T531T|C17orf70_ENST00000425898.2_Silent_p.T331T			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	682					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCTCCCGACAAGTTTCCAGAA	0.687																																					p.T682T		.											.	.	.	0			c.T2046G						.						10	14	13					17																	79514062		2188	4286	6474	SO:0001819	synonymous_variant	80233	exon5			CCGACAAGTTTCC	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2046T>G	17.37:g.79514062A>C		19	0		12	4	NM_025161	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	CCDS32765.2																																																																																			.		0.687	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		C	79514062	A	C	79514062	2	2	24	1	0	0	0	0	0	0	0	1	1883	59	3	4		4	C17orf70	17	79514062	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4577211	79514062	1681148	788	3935											
NPLOC4	55666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	79563165	79563165	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr17:79563165T>G	ENST00000331134.6	-	11	1312	c.1097A>C	c.(1096-1098)aAg>aCg	p.K366T	NPLOC4_ENST00000539314.1_Missense_Mutation_p.K205T|NPLOC4_ENST00000374747.5_Missense_Mutation_p.K366T	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	366					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)			AGTAACAAACTTGGATCCAAA	0.418																																					p.K366T		.											.	.	.	0			c.A1097C						.						86	85	85					17																	79563165		1881	4112	5993	SO:0001583	missense	55666	exon11			ACAAACTTGGATC	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.1097A>C	17.37:g.79563165T>G	ENSP00000331487:p.Lys366Thr	80	0		40	18	NM_017921	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037422	0.93630	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	5.63	0.86233	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.84082	2.675	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	0.83328	-0.0014	9	0.59425	D	0.04	-31.009	15.886	0.79247	0.0:0.0:0.0:1.0	.	205;366;366	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	T	366;365;205	.	ENSP00000331487:K366T	K	-	2	0	NPLOC4	77173603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.975000	0.88055	2.150000	0.67090	0.529000	0.55759	AAG	.		0.418	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			G	79563165	T	G	79563165	3	3	24	1	0	0	0	0	1	0	0	0	10625	1609	56	4	757	4	NPLOC4	17	79563165	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	49103	79563165	1632045	789	3936											
MYOM1	8736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	3067439	3067439	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:3067439T>A	ENST00000356443.4	-	38	5212	c.4879A>T	c.(4879-4881)Agg>Tgg	p.R1627W	MYOM1_ENST00000261606.7_Missense_Mutation_p.R1531W|MYOM1_ENST00000400569.3_Missense_Mutation_p.R1627W	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1627	Ig-like C2-type 5.				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						TACGCGGTCCTCCCAGCCTCG	0.597																																					p.R1627W		.											.	.	.	0			c.A4879T						.						69	74	72					18																	3067439		2203	4300	6503	SO:0001583	missense	8736	exon38			CGGTCCTCCCAGC	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.4879A>T	18.37:g.3067439T>A	ENSP00000348821:p.Arg1627Trp	59	0		27	11	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233211	0.58777	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.67865	-0.29;-0.29;-0.29	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.045733	0.85682	D	0.000000	T	0.71500	0.3347	L	0.36672	1.1	0.27088	N	0.962912	D;P	0.53885	0.963;0.814	P;B	0.56916	0.809;0.29	T	0.68667	-0.5348	10	0.87932	D	0	.	16.1329	0.81458	0.0:0.0:0.0:1.0	.	1531;1627	P52179-2;P52179	.;MYOM1_HUMAN	W	1627;1627;1531	ENSP00000348821:R1627W;ENSP00000383413:R1627W;ENSP00000261606:R1531W	ENSP00000261606:R1531W	R	-	1	2	MYOM1	3057439	1.000000	0.71417	0.710000	0.30468	0.017000	0.09413	8.040000	0.89188	2.208000	0.71279	0.533000	0.62120	AGG	.		0.597	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3067439	T	A	3067439	3	1	24	1	0	0	0	0	1	0	0	0	10129	1550	54	5	182	5	MYOM1	18	3067439	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09		3067439	75009809	790	3937											
MYOM1	8736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	3067471	3067471	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:3067471T>A	ENST00000356443.4	-	38	5180	c.4847A>T	c.(4846-4848)gAc>gTc	p.D1616V	MYOM1_ENST00000261606.7_Missense_Mutation_p.D1520V|MYOM1_ENST00000400569.3_Missense_Mutation_p.D1616V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1616	Ig-like C2-type 5.			SD -> QT (in Ref. 5; CAA48833). {ECO:0000305}.	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						GCAGTGGTCGTCTGAGGCCAG	0.582																																					p.D1616V		.											.	.	.	0			c.A4847T						.						59	64	62					18																	3067471		2203	4299	6502	SO:0001583	missense	8736	exon38			TGGTCGTCTGAGG	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.4847A>T	18.37:g.3067471T>A	ENSP00000348821:p.Asp1616Val	48	0		22	10	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763118	0.49574	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.47177	0.85;0.85;0.85	5.79	2.1	0.27182	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.142496	0.64402	D	0.000009	T	0.63698	0.2533	M	0.88377	2.95	0.39421	D	0.966929	P;P	0.52316	0.897;0.952	P;P	0.55222	0.72;0.771	T	0.66184	-0.5987	10	0.52906	T	0.07	.	9.6942	0.40147	0.0:0.1958:0.0:0.8042	.	1520;1616	P52179-2;P52179	.;MYOM1_HUMAN	V	1616;1616;1520	ENSP00000348821:D1616V;ENSP00000383413:D1616V;ENSP00000261606:D1520V	ENSP00000261606:D1520V	D	-	2	0	MYOM1	3057471	1.000000	0.71417	0.000000	0.03702	0.125000	0.20455	5.184000	0.65070	0.125000	0.18397	0.533000	0.62120	GAC	.		0.582	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3067471	T	A	3067471	3	1	24	1	0	0	0	0	1	0	0	0	10129	1667	58	5	214	5	MYOM1	18	3067471	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	32	3067471	75009777	791	3938	37	2									
MYOM1	8736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	3067473	3067473	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:3067473T>A	ENST00000356443.4	-	38	5178	c.4845A>T	c.(4843-4845)tcA>tcT	p.S1615S	MYOM1_ENST00000261606.7_Silent_p.S1519S|MYOM1_ENST00000400569.3_Silent_p.S1615S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1615	Ig-like C2-type 5.			SD -> QT (in Ref. 5; CAA48833). {ECO:0000305}.	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						AGTGGTCGTCTGAGGCCAGGG	0.587																																					p.S1615S		.											.	.	.	0			c.A4845T						.						58	63	61					18																	3067473		2203	4299	6502	SO:0001819	synonymous_variant	8736	exon38			GTCGTCTGAGGCC	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.4845A>T	18.37:g.3067473T>A		51	0		20	9	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																			.		0.587	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3067473	T	A	3067473	2	1	24	1	0	0	0	0	0	0	0	1	10129	1567	55	5		5	MYOM1	18	3067473	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2	3067473	75009775	792	3939	37	2									
MYOM1	8736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	3094261	3094261	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:3094261T>G	ENST00000356443.4	-	26	4104	c.3771A>C	c.(3769-3771)aaA>aaC	p.K1257N	MYOM1_ENST00000261606.7_Missense_Mutation_p.K1161N|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.K1257N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1257					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						GGACCTGGCCTTTCTCCAAAA	0.383																																					p.K1257N		.											.	.	.	0			c.A3771C						.						62	59	60					18																	3094261		1822	4075	5897	SO:0001583	missense	8736	exon26			CTGGCCTTTCTCC	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.3771A>C	18.37:g.3094261T>G	ENSP00000348821:p.Lys1257Asn	233	0		132	56	NM_003803	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.611871	0.28712	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04454	3.62;3.62;3.62	5.55	1.28	0.21552	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	M	0.70595	2.14	0.48185	D	0.999602	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00409	-1.1757	10	0.30854	T	0.27	.	10.9193	0.47154	0.0:0.3084:0.0:0.6916	.	1161;1257	P52179-2;P52179	.;MYOM1_HUMAN	N	1257;1257;1161	ENSP00000348821:K1257N;ENSP00000383413:K1257N;ENSP00000261606:K1161N	ENSP00000261606:K1161N	K	-	3	2	MYOM1	3084261	1.000000	0.71417	0.996000	0.52242	0.736000	0.42039	1.130000	0.31393	-0.043000	0.13513	-2.096000	0.00365	AAA	.		0.383	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3094261	T	G	3094261	3	3	24	1	0	0	0	0	1	0	0	0	10129	1606	56	4	1338	4	MYOM1	18	3094261	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	26788	3094261	74982987	793	3940											
PPP4R1	9989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	9559465	9559465	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:9559465A>C	ENST00000400556.3	-	14	2053	c.1980T>G	c.(1978-1980)aaT>aaG	p.N660K	PPP4R1_ENST00000400555.3_Missense_Mutation_p.N643K	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	660					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						GGCAGTGCCAATTCTGTCTTC	0.502																																					p.N660K	Melanoma(188;1232 2082 5061 11948 35994)	.											.	.	.	0			c.T1980G						.						219	202	207					18																	9559465		2021	4182	6203	SO:0001583	missense	9989	exon14			GTGCCAATTCTGT	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.1980T>G	18.37:g.9559465A>C	ENSP00000383402:p.Asn660Lys	33	0		29	15	NM_001042388	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.150577	0.57151	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.32988	1.43;1.43	5.57	-1.04	0.10068	Armadillo-like helical (1);Armadillo-type fold (1);	0.247888	0.42053	D	0.000777	T	0.35566	0.0936	M	0.65975	2.015	0.46458	D	0.999052	B;P;B	0.42010	0.369;0.768;0.172	B;P;B	0.45232	0.131;0.474;0.171	T	0.18808	-1.0325	9	.	.	.	-28.2103	14.8346	0.70172	0.0934:0.0:0.9066:0.0	.	643;660;643	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	K	660;643	ENSP00000383402:N660K;ENSP00000383401:N643K	.	N	-	3	2	PPP4R1	9549465	1.000000	0.71417	0.976000	0.42696	0.873000	0.50193	2.516000	0.45520	-0.568000	0.06038	-0.263000	0.10527	AAT	.		0.502	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		C	9559465	A	C	9559465	3	2	24	1	0	0	0	0	1	0	0	0	12445	98	4	4	900	4	PPP4R1	18	9559465	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6465204	9559465	68517783	794	3941											
TTC39C	125488	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	21694602	21694602	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:21694602T>A	ENST00000317571.3	+	7	1305	c.1069T>A	c.(1069-1071)Tat>Aat	p.Y357N	TTC39C_ENST00000304621.6_Missense_Mutation_p.Y296N|RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000540918.2_Missense_Mutation_p.Y50N	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	357										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TGTCTGTCTGTATGAAATTGG	0.378																																					p.Y357N		.											.	.	.	0			c.T1069A						.						156	138	144					18																	21694602		2203	4300	6503	SO:0001583	missense	125488	exon7			TGTCTGTATGAAA	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1069T>A	18.37:g.21694602T>A	ENSP00000323645:p.Tyr357Asn	59	0		37	16	NM_001135993	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308134	0.81247	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.49432	0.78;0.78;0.78	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.70396	-0.4883	10	0.62326	D	0.03	-10.2203	14.2711	0.66152	0.0:0.0:0.0:1.0	.	357	Q8N584	TT39C_HUMAN	N	296;357;50	ENSP00000306598:Y296N;ENSP00000323645:Y357N;ENSP00000443016:Y50N	ENSP00000306598:Y296N	Y	+	1	0	TTC39C	19948600	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.368000	0.79567	2.086000	0.62901	0.533000	0.62120	TAT	.		0.378	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		A	21694602	T	A	21694602	3	1	24	1	0	0	0	0	1	0	0	0	16758	1638	57	5	1095	5	TTC39C	18	21694602	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	12135137	21694602	56382646	795	3942											
CDH2	1000	broad.mit.edu	37	18	25565702	25565702	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:25565702C>T	ENST00000269141.3	-	12	2188	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	CDH2_ENST00000399380.3_Missense_Mutation_p.G558R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	589	Cadherin 4. {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						TGCAGCGTTCCTGTTCCACTC	0.403																																					p.G589R													.	CDH2	194	0			c.G1765A						.						66	69	68					18																	25565702		2203	4300	6503	SO:0001583	missense	1000	exon12			GCGTTCCTGTTCC	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.1765G>A	18.37:g.25565702C>T	ENSP00000269141:p.Gly589Arg	32	0		14	4	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397738	0.83120	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.53857	0.6;0.6	5.96	5.96	0.96718	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76743	-0.2847	10	0.87932	D	0	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	558;589	A8MWK3;P19022	.;CADH2_HUMAN	R	589;558	ENSP00000269141:G589R;ENSP00000382312:G558R	ENSP00000269141:G589R	G	-	1	0	CDH2	23819700	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.487000	0.81328	2.830000	0.97506	0.585000	0.79938	GGA	.		0.403	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25565702	C	T	25565702	3	4	24	1	0	0	0	0	1	0	0	0	3112	690	24	3	975	3	CDH2	18	25565702	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3871100	25565702	52511546	796	3943											
TTR	7276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	29172884	29172884	+	Missense_Mutation	SNP	T	T	G	rs121918094		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:29172884T>G	ENST00000237014.3	+	2	272	c.95T>G	c.(94-96)cTg>cGg	p.L32R		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	32			L -> P (in AMYL-TTR). {ECO:0000269|PubMed:10071047, ECO:0000269|PubMed:17503405}.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AAGTGTCCTCTGATGGTCAAA	0.478																																					p.L32R		.											.	.	.	0			c.T95G	GRCh37	CM993974	TTR	M	rs121918094	.						136	115	122					18																	29172884		2203	4300	6503	SO:0001583	missense	7276	exon2			GTCCTCTGATGGT	M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"prealbumin, amyloidosis type I", "carpal tunnel syndrome 1"	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.95T>G	18.37:g.29172884T>G	ENSP00000237014:p.Leu32Arg	43	0		39	14	NM_000371	Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	37	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482873	0.84747	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.97731	-4.51	5.71	5.71	0.89125	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.069633	0.64402	D	0.000016	D	0.99199	0.9722	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99044	1.0825	10	0.87932	D	0	-11.3537	15.9439	0.79779	0.0:0.0:0.0:1.0	.	32	P02766	TTHY_HUMAN	R	32	ENSP00000237014:L32R	ENSP00000237014:L32R	L	+	2	0	TTR	27426882	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.186000	0.72026	2.307000	0.77673	0.528000	0.53228	CTG	.		0.478	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371		G	29172884	T	G	29172884	3	3	24	1	0	0	0	0	1	0	0	0	16787	1580	55	4	101	4	TTR	18	29172884	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3607182	29172884	48904364	797	3944											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	31158612	31158612	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:31158612A>G	ENST00000269197.5	+	1	17	c.17A>G	c.(16-18)aAg>aGg	p.K6R	RP11-258B16.1_ENST00000591558.1_lincRNA	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	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)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACAAGAGGAAGAAGAAGGAC	0.682																																					p.K6R		.											.	.	.	0			c.A17G						.						23	32	29					18																	31158612		1933	4145	6078	SO:0001583	missense	80816	exon1			AGAGGAAGAAGAA	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.17A>G	18.37:g.31158612A>G	ENSP00000269197:p.Lys6Arg	176	0		110	41	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	a	9.322	1.058378	0.19987	.	.	ENSG00000141431	ENST00000269197	T	0.16743	2.32	2.19	2.19	0.27852	.	.	.	.	.	T	0.17831	0.0428	N	0.25485	0.75	0.25787	N	0.984662	D	0.57571	0.98	P	0.57009	0.811	T	0.05784	-1.0864	9	0.08381	T	0.77	.	9.4888	0.38946	1.0:0.0:0.0:0.0	.	6	Q9C0F0	ASXL3_HUMAN	R	6	ENSP00000269197:K6R	ENSP00000269197:K6R	K	+	2	0	ASXL3	29412610	1.000000	0.71417	0.999000	0.59377	0.159000	0.22180	4.055000	0.57441	0.861000	0.35504	0.328000	0.21473	AAG	.		0.682	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			G	31158612	A	G	31158612	3	3	24	1	0	0	0	0	1	0	0	0	1069	72	3	4	19	4	ASXL3	18	31158612	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1985728	31158612	46918636	798	3945											
RNF165	494470	ucsc.edu	37	18	44015312	44015312	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:44015312C>T	ENST00000269439.7	+	3	489	c.438C>T	c.(436-438)ggC>ggT	p.G146G	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	146							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TCGACTTCGGCCAACTGCAGA	0.637																																					p.G146G													.	RNF165	34	0			c.C438T						.						63	55	58					18																	44015312		2203	4300	6503	SO:0001819	synonymous_variant	494470	exon3			CTTCGGCCAACTG	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.438C>T	18.37:g.44015312C>T		34	0		25	4	NM_152470	B3KVD1	Silent	SNP	ENST00000269439.7	37	CCDS32823.1																																																																																			.		0.637	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		T	44015312	C	T	44015312	2	4	24	1	0	0	0	0	0	0	0	1	13501	726	26	3		3	RNF165	18	44015312	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	12856700	44015312	34061936	799	3946											
KIAA0427	9811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	46385774	46385774	+	Silent	SNP	G	G	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:46385774G>C	ENST00000256413.3	+	12	1936	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L	CTIF_ENST00000382998.4_Silent_p.L549L	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	547	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						CAGAGCTCCTGGCCAGCGCAC	0.622																																					p.L549L		.											.	.	.	0			c.G1647C						.						79	77	78					18																	46385774		2203	4300	6503	SO:0001819	synonymous_variant	9811	exon13			GCTCCTGGCCAGC	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.1641G>C	18.37:g.46385774G>C		21	0		15	6	NM_001142397	B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	CCDS11935.1																																																																																			.		0.622	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		C	46385774	G	C	46385774	2	2	24	1	0	0	0	0	0	0	0	1	8203	1335	47	5		5	KIAA0427	18	46385774	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	2370462	46385774	31691474	800	3947											
MEX3C	51320	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	18	48703410	48703410	+	5'UTR	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:48703410C>T	ENST00000591040.1	-	0	579							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CTAGGAGGAACAGGATTGGAG	0.443																																					p.V431I		.											.	.	.	0			c.G1291A						.						87	84	85					18																	48703410		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51320	exon2			GAGGAACAGGATT	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-220G>A	18.37:g.48703410C>T		26	0		12	6	NM_016626	A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37		.	.	.	.	.	.	.	.	.	.	C	10.72	1.430022	0.25726	.	.	ENSG00000176624	ENST00000406189	T	0.30182	1.54	5.97	5.97	0.96955	.	0.721984	0.13795	N	0.362243	T	0.13457	0.0326	N	0.02011	-0.69	0.27694	N	0.94602	B	0.29716	0.255	B	0.29598	0.104	T	0.15037	-1.0451	10	0.21540	T	0.41	-4.9166	12.5252	0.56083	0.0:0.9233:0.0:0.0767	.	431	Q5U5Q3	MEX3C_HUMAN	I	431	ENSP00000385610:V431I	ENSP00000385610:V431I	V	-	1	0	MEX3C	46957408	0.351000	0.24887	0.997000	0.53966	0.983000	0.72400	1.013000	0.29937	2.836000	0.97738	0.655000	0.94253	GTT	.		0.443	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		T	48703410	C	T	48703410	1	4	24	0	1	0	0	0	0	0	0	0	9549	478	17	3		3	MEX3C	18	48703410	5'UTR	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2317636	48703410	29373838	801	3948											
RAB27B	5874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	52556641	52556641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:52556641C>A	ENST00000262094.5	+	6	1175	c.654C>A	c.(652-654)tgC>tgA	p.C218*	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	218					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AATGTATCTGCTAGACTCTAC	0.393																																					p.C218X		.											.	.	.	0			c.C654A						.						62	61	61					18																	52556641		2203	4300	6503	SO:0001587	stop_gained	5874	exon6			TATCTGCTAGACT	U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"RAB, member RAS oncogene"	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.654C>A	18.37:g.52556641C>A	ENSP00000262094:p.Cys218*	68	0		36	11	NM_004163	B2RAB0|Q9BZB6	Nonsense_Mutation	SNP	ENST00000262094.5	37	CCDS11958.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314672	0.81358	.	.	ENSG00000041353	ENST00000262094	.	.	.	5.61	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7603	0.40528	0.0:0.7747:0.0:0.2253	.	.	.	.	X	218	.	ENSP00000262094:C218X	C	+	3	2	RAB27B	50707639	0.994000	0.37717	1.000000	0.80357	0.872000	0.50106	0.304000	0.19228	0.845000	0.35118	0.655000	0.94253	TGC	.		0.393	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163		A	52556641	C	A	52556641	4	1	24	1	0	0	0	0	0	1	0	0	12960	805	28	3	672	3	RAB27B	18	52556641	Nonsense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	3853231	52556641	25520607	802	3949											
ATP8B1	5205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	55336582	55336582	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:55336582T>A	ENST00000283684.4	-	17	2064	c.2065A>T	c.(2065-2067)Aaa>Taa	p.K689*	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.K689*|RP11-35G9.3_ENST00000591854.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	689			Missing (in PFIC1). {ECO:0000269|PubMed:9500542}.		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)				TCATATACTTTATCCAGAGCT	0.328																																					p.K689X		.											.	.	.	0			c.A2065T						.						72	78	76					18																	55336582		2203	4300	6503	SO:0001587	stop_gained	5205	exon18			ATACTTTATCCAG	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.2065A>T	18.37:g.55336582T>A	ENSP00000283684:p.Lys689*	156	0		109	47	NM_005603	Q9BTP8	Nonsense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	38	6.960921	0.97964	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.91	4.72	0.59763	.	0.239575	0.43747	D	0.000539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8014	0.57588	0.0:0.0:0.1368:0.8632	.	.	.	.	X	689	.	ENSP00000283684:K689X	K	-	1	0	ATP8B1	53487580	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.161000	0.31773	1.013000	0.39391	0.533000	0.62120	AAA	.		0.328	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		A	55336582	T	A	55336582	4	1	24	1	0	0	0	0	0	1	0	0	1195	1763	61	5	1734	5	ATP8B1	18	55336582	Nonsense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2779941	55336582	22740666	803	3950											
CCBE1	147372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	57106936	57106936	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:57106936G>T	ENST00000439986.4	-	8	925	c.888C>A	c.(886-888)caC>caA	p.H296Q	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	296					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTTGCTTAATGTGGGACAGAT	0.577																																					p.H296Q	NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	.											.	.	.	0			c.C888A						.						82	86	85					18																	57106936		2203	4300	6503	SO:0001583	missense	147372	exon8			CTTAATGTGGGAC	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.888C>A	18.37:g.57106936G>T	ENSP00000404464:p.His296Gln	48	0		37	4	NM_133459	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035886	0.35893	.	.	ENSG00000183287	ENST00000439986	T	0.68331	-0.32	4.33	3.44	0.39384	.	0.045542	0.85682	D	0.000000	T	0.44891	0.1315	N	0.17248	0.465	0.80722	D	1	B;P	0.40332	0.447;0.713	B;B	0.39562	0.078;0.303	T	0.28106	-1.0054	10	0.33141	T	0.24	-23.1284	4.5045	0.11881	0.2111:0.1872:0.6017:0.0	.	296;105	Q6UXH8;Q6UXH8-3	CCBE1_HUMAN;.	Q	296	ENSP00000404464:H296Q	ENSP00000404464:H296Q	H	-	3	2	CCBE1	55257916	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.486000	0.35530	0.897000	0.36392	0.650000	0.86243	CAC	.		0.577	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		T	57106936	G	T	57106936	3	4	24	1	0	0	0	0	1	0	0	0	2738	1368	48	3	348	3	CCBE1	18	57106936	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1770354	57106936	20970312	804	3951											
CDH19	28513	hgsc.bcm.edu	37	18	64172343	64172343	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:64172343G>T	ENST00000262150.2	-	12	2317	c.2025C>A	c.(2023-2025)agC>agA	p.S675R	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)				TGATCTCAGCGCTTGTGGTTT	0.478																																					p.S675R		.											CDH19,right_lower_lobe,carcinoma,0,1	CDH19	0	0			c.C2025A						.						173	163	166					18																	64172343		2203	4300	6503	SO:0001583	missense	28513	exon12			CTCAGCGCTTGTG	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.2025C>A	18.37:g.64172343G>T	ENSP00000262150:p.Ser675Arg	38	0		33	3	NM_021153	O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.233881	0.01505	.	.	ENSG00000071991	ENST00000262150	T	0.76316	-1.01	5.18	-3.92	0.04155	Cadherin, cytoplasmic domain (1);	0.810448	0.11650	N	0.542874	T	0.38188	0.1031	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41556	-0.9502	10	0.06891	T	0.86	.	0.9049	0.01282	0.2056:0.31:0.2074:0.2769	.	675	Q9H159	CAD19_HUMAN	R	675	ENSP00000262150:S675R	ENSP00000262150:S675R	S	-	3	2	CDH19	62323323	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.135000	0.00588	-0.812000	0.04363	-0.219000	0.12488	AGC	.		0.478	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		T	64172343	G	T	64172343	3	4	24	1	0	0	0	0	1	0	0	0	3111	1078	38	2	297	2	CDH19	18	64172343	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	7065407	64172343	13904905	805	3952											
ATP9B	374868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	76903819	76903819	+	Missense_Mutation	SNP	A	A	T	rs552823277	byFrequency	TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr18:76903819A>T	ENST00000426216.2	+	6	702	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.S229C	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	229					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)		GCAAGTTAAGAGTTCAGACAT	0.308																																					p.S229C		.											.	.	.	0			c.A685T						.						174	186	182					18																	76903819		2203	4300	6503	SO:0001583	missense	374868	exon6			GTTAAGAGTTCAG	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.685A>T	18.37:g.76903819A>T	ENSP00000398076:p.Ser229Cys	129	0		63	27	NM_198531	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.832147	0.71258	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	D;D	0.91407	-2.84;-2.84	5.07	5.07	0.68467	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93559	0.7944	M	0.80982	2.52	0.80722	D	1	P;P	0.46912	0.886;0.862	P;P	0.54174	0.744;0.627	D	0.93966	0.7245	10	0.59425	D	0.04	.	13.0688	0.59048	1.0:0.0:0.0:0.0	.	229;229	O43861;O43861-2	ATP9B_HUMAN;.	C	152;229;229	ENSP00000398076:S229C;ENSP00000304500:S229C	ENSP00000304500:S229C	S	+	1	0	ATP9B	75004807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	1.924000	0.55735	0.533000	0.62120	AGT	.		0.308	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		T	76903819	A	T	76903819	3	4	24	1	0	0	0	0	1	0	0	0	1200	304	11	5	707	5	ATP9B	18	76903819	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	12731476	76903819	1173429	806	3953											
DAZAP1	26528	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	1428934	1428956	+	Frame_Shift_Del	DEL	GCTGCCAATGGCTGGGCAGGCCA	GCTGCCAATGGCTGGGCAGGCCA	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	GCTGCCAATGGCTGGGCAGGCCA	GCTGCCAATGGCTGGGCAGGCCA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:1428934_1428956delGCTGCCAATGGCTGGGCAGGCCA	ENST00000233078.4	+	8	801_823	c.640_662delGCTGCCAATGGCTGGGCAGGCCA	c.(640-663)gctgccaatggctgggcaggccagfs	p.AANGWAGQ214fs	DAZAP1_ENST00000336761.6_Frame_Shift_Del_p.AANGWAGQ214fs	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	214					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)		TGTGCCCAACGCTGCCAATGGCTGGGCAGGCCAGCCCCCGCCC	0.664																																					p.213_221del		.											.	.	.	0			c.639_661del						.																																			SO:0001589	frameshift_variant	26528	exon8			CCCAACGCTGCCA		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.640_662delGCTGCCAATGGCTGGGCAGGCCA	19.37:g.1428934_1428956delGCTGCCAATGGCTGGGCAGGCCA	ENSP00000233078:p.Ala214fs	142	0		90	14	NM_018959	Q96MJ3|Q9NRR9	Frame_Shift_Del	DEL	ENST00000233078.4	37	CCDS12065.1																																																																																			.		0.664	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		-	1428956	GCTGCCAATGGCTGGGCAGGCCA	-	1428934	7	5	24	1	0	1	0	1	0	0	0	0	4253	1087	38	0	670	0	DAZAP1	19	1428934	Frame_Shift_Del	DEL	GCTGCCAATGGCTGGGCAGGCCA	TCGA-W5-AA39-01A-11D-A417-09		1428934	57700049	807	3954											
PCSK4	92840	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	1490288	1490288	+	5'Flank	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:1490288G>A	ENST00000233596.3	+	0	0				PCSK4_ENST00000587784.1_Intron|PCSK4_ENST00000300954.5_Missense_Mutation_p.R20C	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						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)		GCCCGGGGGCGGACAAGGGCC	0.746																																					p.R20C		.											.	.	.	0			c.C58T						.						5	6	6					19																	1490288		2108	4138	6246	SO:0001631	upstream_gene_variant	54760	exon1			GGGGGCGGACAAG	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		19.37:g.1490288G>A	Exception_encountered	89	0		66	28	NM_017573	B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	g	9.638	1.138236	0.21123	.	.	ENSG00000115257	ENST00000300954	T	0.69435	-0.4	3.31	-6.62	0.01813	.	1.617810	0.04195	N	0.329028	T	0.36026	0.0952	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24190	-1.0167	10	0.38643	T	0.18	.	7.1918	0.25831	0.5261:0.2048:0.2691:0.0	.	20	Q6UW60	PCSK4_HUMAN	C	20	ENSP00000300954:R20C	ENSP00000300954:R20C	R	-	1	0	PCSK4	1441288	0.000000	0.05858	0.068000	0.19968	0.011000	0.07611	-1.638000	0.02013	-0.731000	0.04862	-2.032000	0.00423	CGC	.		0.746	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		A	1490288	G	A	1490288	1	1	24	0	1	0	0	0	0	0	0	0	11641	1116	39	1		1	PCSK4	19	1490288	5'Flank	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	61354	1490288	57638695	808	3955											
ATP8B3	148229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	1811727	1811727	+	Silent	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:1811727A>T	ENST00000310127.6	-	2	247	c.9T>A	c.(7-9)acT>acA	p.T3T	ATP8B3_ENST00000539485.1_Silent_p.T3T|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000526092.2_Intron	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	3					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)		GAGCGGGGCCAGTGCCCATTC	0.662																																					p.T3T		.											.	.	.	0			c.T9A						.						25	29	27					19																	1811727		1993	4136	6129	SO:0001819	synonymous_variant	148229	exon2			GGGGCCAGTGCCC	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.9T>A	19.37:g.1811727A>T		16	0		14	10	NM_138813	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	CCDS45901.1																																																																																			.		0.662	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1811727	A	T	1811727	2	4	24	1	0	0	0	0	0	0	0	1	1197	175	7	5		5	ATP8B3	19	1811727	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	321439	1811727	57317256	809	3956											
GIPC3	126326	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	3589910	3589910	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:3589910G>T	ENST00000322315.5	+	5	832	c.787G>T	c.(787-789)Gcg>Tcg	p.A263S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	263										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)		CCCCGAGCTGGGTAAGGGGCC	0.672																																					p.A263S		.											.	.	.	0			c.G787T						.						52	54	54					19																	3589910		2203	4299	6502	SO:0001630	splice_region_variant	126326	exon5			GAGCTGGGTAAGG	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.787+1G>T	19.37:g.3589910G>T		66	0		40	20	NM_133261	O75227	Missense_Mutation	SNP	ENST00000322315.5	37	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	g	22.2	4.262268	0.80358	.	.	ENSG00000179855	ENST00000322315	D	0.88277	-2.36	4.48	3.43	0.39272	.	0.059022	0.64402	D	0.000003	D	0.91506	0.7318	L	0.52759	1.655	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.90215	0.4267	10	0.44086	T	0.13	-28.8747	12.2548	0.54617	0.0:0.1729:0.8271:0.0	.	263	Q8TF64	GIPC3_HUMAN	S	263	ENSP00000319254:A263S	ENSP00000319254:A263S	A	+	1	0	GIPC3	3540910	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.293000	0.78740	0.871000	0.35750	0.486000	0.48141	GCG	.		0.672	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261	Missense_Mutation	T	3589910	G	T	3589910	5	4	24	1	0	0	0	0	0	0	1	0	6420	1246	43	3	805	3	GIPC3	19	3589910	Splice_Site	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1778183	3589910	55539073	810	3957											
STAP2	55620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	4327373	4327373	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:4327373C>T	ENST00000594605.1	-	7	723	c.600G>A	c.(598-600)gtG>gtA	p.V200V	STAP2_ENST00000600324.1_Silent_p.V200V|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	200	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)		AATGCCGGACCACGTGCGTCC	0.647																																					p.V200V		.											.	.	.	0			c.G600A						.						85	73	77					19																	4327373		2203	4300	6503	SO:0001819	synonymous_variant	55620	exon7			CCGGACCACGTGC	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.600G>A	19.37:g.4327373C>T		36	0		16	10	NM_001013841	A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	CCDS45926.1																																																																																			.		0.647	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		T	4327373	C	T	4327373	2	4	24	1	0	0	0	0	0	0	0	1	15300	581	21	3		3	STAP2	19	4327373	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	737463	4327373	54801610	811	3958											
CHAF1A	10036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	4442934	4442934	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:4442934C>T	ENST00000301280.5	+	15	2884	c.2783C>T	c.(2782-2784)cCg>cTg	p.P928L		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	928	Binds to p60.				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)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAAGCCCCGTGTGGAGCC	0.692								Chromatin Structure																													p.P928L		.											.	.	.	0			c.C2783T						.						21	23	22					19																	4442934		2201	4295	6496	SO:0001583	missense	10036	exon15			AAGCCCCGTGTGG	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2783C>T	19.37:g.4442934C>T	ENSP00000301280:p.Pro928Leu	94	0		43	12	NM_005483	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585076	0.46110	.	.	ENSG00000167670	ENST00000301280	T	0.30182	1.54	4.0	2.91	0.33838	.	.	.	.	.	T	0.35913	0.0948	L	0.51422	1.61	0.09310	N	1	D	0.69078	0.997	P	0.50708	0.648	T	0.13683	-1.0500	9	0.87932	D	0	-11.5465	8.9521	0.35796	0.2227:0.7773:0.0:0.0	.	928	Q13111	CAF1A_HUMAN	L	928	ENSP00000301280:P928L	ENSP00000301280:P928L	P	+	2	0	CHAF1A	4393934	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.079000	0.11357	0.754000	0.32968	0.313000	0.20887	CCG	.		0.692	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		T	4442934	C	T	4442934	3	4	24	1	0	0	0	0	1	0	0	0	3318	652	23	1	2841	1	CHAF1A	19	4442934	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	115561	4442934	54686049	812	3959											
MCOLN1	57192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	7591678	7591678	+	Missense_Mutation	SNP	G	G	C	rs147878118		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:7591678G>C	ENST00000264079.6	+	4	562	c.437G>C	c.(436-438)cGg>cCg	p.R146P		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	146					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						TCACTGGGCCGGTATGCGTAT	0.667																																					p.R146P		.											.	.	.	0			c.G437C						.						123	84	97					19																	7591678		2203	4300	6503	SO:0001583	missense	57192	exon4			TGGGCCGGTATGC	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.437G>C	19.37:g.7591678G>C	ENSP00000264079:p.Arg146Pro	58	0		36	17	NM_020533	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	CCDS12180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.06|11.06	1.527639|1.527639	0.27299|0.27299	.|.	.|.	ENSG00000090674|ENSG00000090674	ENST00000394321|ENST00000264079	.|T	.|0.50548	.|0.74	5.24|5.24	1.97|1.97	0.26223|0.26223	.|.	.|0.305584	.|0.36665	.|N	.|0.002466	T|T	0.28599|0.28599	0.0708|0.0708	N|N	0.21142|0.21142	0.635|0.635	0.20764|0.20764	N|N	0.999858|0.999858	D|B	0.54964|0.14012	0.969|0.009	P|B	0.47162|0.10450	0.54|0.005	T|T	0.17868|0.17868	-1.0355|-1.0355	8|10	0.87932|0.17832	D|T	0|0.49	.|.	8.9883|8.9883	0.36008|0.36008	0.2415:0.0:0.7585:0.0|0.2415:0.0:0.7585:0.0	.|.	33|146	Q9GZU1-2|Q9GZU1	.|MCLN1_HUMAN	R|P	33|146	.|ENSP00000264079:R146P	ENSP00000377856:G33R|ENSP00000264079:R146P	G|R	+|+	1|2	0|0	MCOLN1|MCOLN1	7497678|7497678	0.036000|0.036000	0.19791|0.19791	0.555000|0.555000	0.28281|0.28281	0.763000|0.763000	0.43281|0.43281	1.571000|1.571000	0.36450|0.36450	0.237000|0.237000	0.21200|0.21200	0.655000|0.655000	0.94253|0.94253	GGT|CGG	.		0.667	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		C	7591678	G	C	7591678	3	2	24	1	0	0	0	0	1	0	0	0	9433	1116	39	5	451	5	MCOLN1	19	7591678	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	3148744	7591678	51537305	813	3960											
ELAVL1	1994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8056616	8056616	+	Silent	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:8056616A>T	ENST00000407627.2	-	2	213	c.84T>A	c.(82-84)ccT>ccA	p.P28P	ELAVL1_ENST00000596459.1_Silent_p.P28P|ELAVL1_ENST00000593807.1_Silent_p.P28P|ELAVL1_ENST00000351593.5_Silent_p.P55P	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	28	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						TCATGTTCTGAGGGAGGTAGT	0.433																																					p.P28P		.											.	.	.	0			c.T84A						.						179	155	163					19																	8056616		2203	4300	6503	SO:0001819	synonymous_variant	1994	exon2			GTTCTGAGGGAGG	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.84T>A	19.37:g.8056616A>T		67	0		52	21	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	CCDS12193.1																																																																																			.		0.433	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		T	8056616	A	T	8056616	2	4	24	1	0	0	0	0	0	0	0	1	5065	291	11	5		5	ELAVL1	19	8056616	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	464938	8056616	51072367	814	3961											
RAB11B	9230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8467132	8467132	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:8467132T>C	ENST00000328024.6	+	3	617	c.399T>C	c.(397-399)gcT>gcC	p.A133A	RAB11B_ENST00000594216.1_Silent_p.A133A|RAB11B_ENST00000601897.1_Silent_p.A14A	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	133					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						ACCTGCGGGCTGTGCCCACTG	0.647																																					p.A133A		.											.	.	.	0			c.T399C						.						39	24	29					19																	8467132		2190	4283	6473	SO:0001819	synonymous_variant	9230	exon3			GCGGGCTGTGCCC	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.399T>C	19.37:g.8467132T>C		26	0		17	5	NM_004218	A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	ENST00000328024.6	37	CCDS12201.1																																																																																			.		0.647	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		C	8467132	T	C	8467132	2	2	24	1	0	0	0	0	0	0	0	1	12937	1567	55	4		4	RAB11B	19	8467132	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	410516	8467132	50661851	815	3962											
MARCH2	51257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8486775	8486775	+	Silent	SNP	C	C	T	rs368370666		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:8486775C>T	ENST00000602117.1	+	2	506	c.51C>T	c.(49-51)tcC>tcT	p.S17S	RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Silent_p.S17S|MARCH2_ENST00000381035.4_Silent_p.S17S|MARCH2_ENST00000393944.1_Silent_p.S17S|MARCH2_ENST00000601283.1_Silent_p.S17S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	17					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GTGACTGCTCCGGCAGCCCTG	0.677													C|||	1	0.000199681	0	0	5008	,	,		16433	0		0	False		,,,				2504	0.001				p.S17S		.											.	.	.	0			c.C51T						.	C	,,	0,4406		0,0,2203	50	50	50		51,51,51	-5.2	0.8	19		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MARCH2	NM_001005415.1,NM_001005416.1,NM_016496.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	17/247,17/177,17/247	8486775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51257	exon2			CTGCTCCGGCAGC	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.51C>T	19.37:g.8486775C>T		67	0		47	21	NM_001005415	A6NP10|Q5H785|Q8N5A3|Q96B78	Silent	SNP	ENST00000602117.1	37	CCDS12202.1																																																																																			.		0.677	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		T	8486775	C	T	8486775	2	4	24	1	0	0	0	0	0	0	0	1	9339	639	23	1		1	MARCH2	19	8486775	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	19643	8486775	50642208	816	3963											
HNRNPM	4670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8527458	8527458	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:8527458A>C	ENST00000325495.4	+	3	370	c.329A>C	c.(328-330)aAg>aCg	p.K110T	HNRNPM_ENST00000348943.3_Missense_Mutation_p.K110T	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	110	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCTGAAGGAAAGTCAAGGGTA	0.418																																					p.K110T		.											.	.	.	0			c.A329C						.						263	237	246					19																	8527458		2203	4300	6503	SO:0001583	missense	4670	exon3			AAGGAAAGTCAAG	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.329A>C	19.37:g.8527458A>C	ENSP00000325376:p.Lys110Thr	86	0		65	21	NM_031203	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616099	0.66672	.	.	ENSG00000099783	ENST00000325495;ENST00000348943	T;T	0.17854	2.25;2.25	5.82	5.82	0.92795	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.047544	0.85682	D	0.000000	T	0.42404	0.1201	M	0.71581	2.175	0.80722	D	1	P;D;P	0.89917	0.558;1.0;0.77	P;D;P	0.85130	0.796;0.997;0.474	T	0.33111	-0.9881	10	0.87932	D	0	.	15.0018	0.71479	1.0:0.0:0.0:0.0	.	110;110;110	P52272;P52272-2;B4DEG4	HNRPM_HUMAN;.;.	T	110	ENSP00000325376:K110T;ENSP00000325732:K110T	ENSP00000325376:K110T	K	+	2	0	HNRNPM	8433458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.225000	0.72522	0.459000	0.35465	AAG	.		0.418	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			C	8527458	A	C	8527458	3	2	24	1	0	0	0	0	1	0	0	0	7298	72	3	4	339	4	HNRNPM	19	8527458	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	40683	8527458	50601525	817	3964											
ZNF699	374879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	9407095	9407095	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:9407095G>A	ENST00000591998.1	-	6	1213	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.H329Y			Q32M78	ZN699_HUMAN	zinc finger protein 699	329					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						TCTCCACTGTGAATTCTTTTG	0.408																																					p.H329Y		.											.	.	.	0			c.C985T						.						77	79	79					19																	9407095		2184	4288	6472	SO:0001583	missense	374879	exon5			CACTGTGAATTCT	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.985C>T	19.37:g.9407095G>A	ENSP00000467723:p.His329Tyr	59	0		33	17	NM_198535	Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	g	13.62	2.291476	0.40494	.	.	ENSG00000196110	ENST00000308650	T	0.67523	-0.27	3.17	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002279	D	0.84588	0.5505	M	0.93898	3.47	0.34096	D	0.661334	D	0.89917	1.0	D	0.91635	0.999	D	0.90871	0.4746	10	0.72032	D	0.01	.	12.5826	0.56399	0.0:0.0:1.0:0.0	.	329	Q32M78	ZN699_HUMAN	Y	329	ENSP00000311596:H329Y	ENSP00000311596:H329Y	H	-	1	0	ZNF699	9268095	1.000000	0.71417	0.046000	0.18839	0.058000	0.15608	8.227000	0.89787	2.087000	0.62958	0.455000	0.32223	CAC	.		0.408	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		A	9407095	G	A	9407095	3	1	24	1	0	0	0	0	1	0	0	0	18149	1290	45	3	947	3	ZNF699	19	9407095	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	879637	9407095	49721888	818	3965											
ZNF177	7730	broad.mit.edu;bcgsc.ca	37	19	9491917	9491917	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:9491917A>C	ENST00000589262.1	+	6	976	c.910A>C	c.(910-912)Aga>Cga	p.R304R	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000541595.2_Silent_p.R144R|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000434737.2_Silent_p.R304R|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Silent_p.R144R|ZNF177_ENST00000343499.4_Silent_p.R144R	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	304					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						GAAACACATGAGATCTCATAC	0.443																																					p.R304R													.	ZNF177	57	0			c.A910C						.						94	87	90					19																	9491917		2203	4300	6503	SO:0001819	synonymous_variant	7730	exon6			CACATGAGATCTC	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.910A>C	19.37:g.9491917A>C		49	1		30	12	NM_001172651	B4DY57|E9PDG0|I3L0I4|Q96ER2	Silent	SNP	ENST00000589262.1	37	CCDS54214.1																																																																																			.		0.443	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		C	9491917	A	C	9491917	2	2	24	1	0	0	0	0	0	0	0	1	17794	296	11	4		4	ZNF177	19	9491917	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	84822	9491917	49637066	819	3966											
TYK2	7297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	10463198	10463198	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:10463198T>G	ENST00000525621.1	-	23	3711	c.3230A>C	c.(3229-3231)aAg>aCg	p.K1077T	TYK2_ENST00000264818.6_Missense_Mutation_p.K1077T|TYK2_ENST00000524462.1_Missense_Mutation_p.K892T|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1077	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ATAGTAGAACTTATACTCCTT	0.627																																					p.K1077T		.											.	.	.	0			c.A3230C						.						78	78	78					19																	10463198		2203	4300	6503	SO:0001583	missense	7297	exon23			TAGAACTTATACT		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.3230A>C	19.37:g.10463198T>G	ENSP00000431885:p.Lys1077Thr	67	0		36	14	NM_003331	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877326	0.72294	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.35	5.35	0.76521	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.575727	0.15511	N	0.258537	D	0.84110	0.5400	N	0.21282	0.65	0.58432	D	0.999999	D	0.65815	0.995	D	0.69654	0.965	T	0.81660	-0.0832	9	.	.	.	-32.0253	13.3337	0.60505	0.0:0.0:0.0:1.0	.	1077	P29597	TYK2_HUMAN	T	892;1077;1077;824;100	ENSP00000433203:K892T;ENSP00000431885:K1077T;ENSP00000264818:K1077T;ENSP00000436155:K100T	.	K	-	2	0	TYK2	10324198	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	3.737000	0.55060	2.046000	0.60703	0.449000	0.29647	AAG	.		0.627	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			G	10463198	T	G	10463198	3	3	24	1	0	0	0	0	1	0	0	0	16859	1609	56	4	345	4	TYK2	19	10463198	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	971281	10463198	48665785	820	3967											
ZNF69	7620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	12014751	12014751	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:12014751T>C	ENST00000429654.2	+	3	362	c.222T>C	c.(220-222)taT>taC	p.Y74Y	ZNF69_ENST00000340180.5_Silent_p.Y60Y			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		ACATTGAATATGAGTACCAAA	0.303																																					p.Y60Y		.											.	.	.	0			c.T180C						.						69	73	72					19																	12014751		2203	4298	6501	SO:0001819	synonymous_variant	7620	exon3			TGAATATGAGTAC	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.222T>C	19.37:g.12014751T>C		196	0		105	38	NM_021915	Q86VA7	Silent	SNP	ENST00000429654.2	37																																																																																				.		0.303	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		C	12014751	T	C	12014751	2	2	24	1	0	0	0	0	0	0	0	1	18143	1471	51	4		4	ZNF69	19	12014751	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1551553	12014751	47114232	821	3968											
MAST1	22983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	12975632	12975632	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:12975632G>A	ENST00000251472.4	+	13	1415	c.1376G>A	c.(1375-1377)tGt>tAt	p.C459Y		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						GGCGGCGACTGTGCCACCCTG	0.542																																					p.C459Y		.											.	.	.	0			c.G1376A						.						81	78	79					19																	12975632		2203	4300	6503	SO:0001583	missense	22983	exon13			GCGACTGTGCCAC	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.1376G>A	19.37:g.12975632G>A	ENSP00000251472:p.Cys459Tyr	44	0		29	10	NM_014975		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429009	0.62844	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.24350	1.86	4.39	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);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.32798	-0.9893	10	0.87932	D	0	-15.5488	14.8264	0.70117	0.0:0.0:1.0:0.0	.	459	Q9Y2H9	MAST1_HUMAN	Y	459	ENSP00000251472:C459Y	ENSP00000251472:C459Y	C	+	2	0	MAST1	12836632	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	9.813000	0.99286	2.181000	0.69327	0.561000	0.74099	TGT	.		0.542	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		A	12975632	G	A	12975632	3	1	24	1	0	0	0	0	1	0	0	0	9362	1377	48	3	1426	3	MAST1	19	12975632	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	960881	12975632	46153351	822	3969											
CYP4F22	126410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	15651396	15651396	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:15651396C>T	ENST00000269703.3	+	8	1006	c.807C>T	c.(805-807)gaC>gaT	p.D269D	CYP4F22_ENST00000601005.2_Silent_p.D269D	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	269						endoplasmic reticulum (GO:0005783)|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)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGGCCTGTGACATGGTGCACC	0.632																																					p.D269D		.											.	.	.	0			c.C807T						.						71	66	68					19																	15651396		2203	4300	6503	SO:0001819	synonymous_variant	126410	exon8			CTGTGACATGGTG		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.807C>T	19.37:g.15651396C>T		28	0		31	11	NM_173483	Q8N8H4	Silent	SNP	ENST00000269703.3	37	CCDS12331.1																																																																																			.		0.632	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		T	15651396	C	T	15651396	2	4	24	1	0	0	0	0	0	0	0	1	4198	477	17	3		3	CYP4F22	19	15651396	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2675764	15651396	43477587	823	3970											
TMEM38A	79041	hgsc.bcm.edu	37	19	16790827	16790827	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:16790827G>T	ENST00000187762.2	+	2	248	c.157G>T	c.(157-159)Gcg>Tcg	p.A53S		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CCACCCCATCGCGTCCTGGCT	0.602																																					p.A53S		.											TMEM38A,colon,carcinoma,-1,1	TMEM38A	-1	0			c.G157T						.						54	40	45					19																	16790827		2203	4300	6503	SO:0001583	missense	79041	exon2			CCCATCGCGTCCT	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.157G>T	19.37:g.16790827G>T	ENSP00000187762:p.Ala53Ser	20	0		21	2	NM_024074	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	13.95	2.388574	0.42308	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	L	0.28608	0.87	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.62723	-0.6794	9	0.30078	T	0.28	-14.3296	17.9316	0.88999	0.0:0.0:1.0:0.0	.	53	Q9H6F2	TM38A_HUMAN	S	53	.	ENSP00000187762:A53S	A	+	1	0	TMEM38A	16651827	1.000000	0.71417	0.397000	0.26308	0.074000	0.17049	9.324000	0.96373	2.474000	0.83562	0.561000	0.74099	GCG	.		0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		T	16790827	G	T	16790827	3	4	24	1	0	0	0	0	1	0	0	0	16206	1087	38	2	163	2	TMEM38A	19	16790827	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1139431	16790827	42338156	824	3971											
FKBP8	23770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	18648519	18648519	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:18648519C>T	ENST00000596558.2	-	6	943	c.834G>A	c.(832-834)ctG>ctA	p.L278L	FKBP8_ENST00000222308.4_Silent_p.L278L|FKBP8_ENST00000597960.3_Silent_p.L279L|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000610101.1_Silent_p.L119L|FKBP8_ENST00000453489.2_Silent_p.L307L|FKBP8_ENST00000608443.1_Silent_p.L279L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	278					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						GCGAGGCCGCCAGGTTGTTCA	0.617																																					p.L279L		.											.	.	.	0			c.G837A						.						88	69	75					19																	18648519		2203	4300	6503	SO:0001819	synonymous_variant	23770	exon6			GGCCGCCAGGTTG	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.834G>A	19.37:g.18648519C>T		67	0		48	21	NM_012181	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37																																																																																				.		0.617	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		T	18648519	C	T	18648519	2	4	24	1	0	0	0	0	0	0	0	1	5936	581	21	3		3	FKBP8	19	18648519	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1857692	18648519	40480464	825	3972											
ARMC6	93436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	19162649	19162649	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:19162649T>C	ENST00000535612.1	+	5	930	c.498T>C	c.(496-498)acT>acC	p.T166T	ARMC6_ENST00000269932.6_Silent_p.T141T|ARMC6_ENST00000392336.3_Silent_p.T166T|ARMC6_ENST00000546344.1_Silent_p.T73T|ARMC6_ENST00000392335.2_Silent_p.T141T	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	166					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGGTGCTGACTGATGGACAGC	0.622																																					p.T166T		.											.	.	.	0			c.T498C						.						69	55	59					19																	19162649		2203	4300	6503	SO:0001819	synonymous_variant	93436	exon5			GCTGACTGATGGA	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.498T>C	19.37:g.19162649T>C		21	0		18	9	NM_001199196	B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	CCDS56089.1																																																																																			.		0.622	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		C	19162649	T	C	19162649	2	2	24	1	0	0	0	0	0	0	0	1	956	1567	55	4		4	ARMC6	19	19162649	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	514130	19162649	39966334	826	3973											
NDUFA13	51079	hgsc.bcm.edu	37	19	19638817	19638818	+	Splice_Site	INS	-	-	G	rs111375911		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:19638817_19638818insG	ENST00000507754.4	+	5	801_802	c.317_318insG	c.(316-321)gtgggg>gtGgggg	p.VG106fs	NDUFA13_ENST00000512771.3_Splice_Site_p.VG106fs|YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000503283.1_Intron|NDUFA13_ENST00000252576.5_Splice_Site_p.VG189fs|CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000428459.2_3'UTR|YJEFN3_ENST00000436027.5_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	106	Important for inducing cell death.				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						TCCCCACAGGTGGGGGAGTCTG	0.658																																					p.V106fs		.											.	.	.	0			c.317_318insG						.																																			SO:0001630	splice_region_variant	51079	exon5			CACAGGTGGGGGA	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.316-1->G	19.37:g.19638822_19638822dupG		89	0		52	12	NM_015965	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Frame_Shift_Ins	INS	ENST00000507754.4	37	CCDS12404.2																																																																																			.		0.658	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965	Frame_Shift_Ins	G	19638818	-	G	19638817	8	5	24	1	0	1	1	0	0	0	1	0	10302	1710	59	0	335	0	NDUFA13	19	19638817	Splice_Site	INS	-	TCGA-W5-AA39-01A-11D-A417-09	476168	19638817	39490166	827	3974	38	2									
NDUFA13	51079	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	19638823	19638823	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:19638823A>G	ENST00000507754.4	+	5	807	c.323A>G	c.(322-324)gAg>gGg	p.E108G	NDUFA13_ENST00000512771.3_Missense_Mutation_p.E108G|YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000503283.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.E191G|CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000428459.2_3'UTR|YJEFN3_ENST00000436027.5_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	108	Important for inducing cell death.				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						CAGGTGGGGGAGTCTGTGTTC	0.647																																					p.E108G		.											.	.	.	0			c.A323G						.						39	37	38					19																	19638823		2203	4299	6502	SO:0001583	missense	51079	exon5			TGGGGGAGTCTGT	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.323A>G	19.37:g.19638823A>G	ENSP00000423673:p.Glu108Gly	89	0		53	18	NM_015965	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007832	0.54361	.	.	ENSG00000186010	ENST00000507754;ENST00000252576	D;D	0.85773	-2.03;-2.03	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000002	D	0.92469	0.7609	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.957	D	0.93256	0.6639	10	0.87932	D	0	.	10.6087	0.45408	1.0:0.0:0.0:0.0	.	108;108	B4DF76;Q9P0J0	.;NDUAD_HUMAN	G	108;191	ENSP00000423673:E108G;ENSP00000252576:E191G	ENSP00000252576:E191G	E	+	2	0	NDUFA13	19499823	1.000000	0.71417	0.621000	0.29145	0.043000	0.13939	6.361000	0.73070	1.785000	0.52413	0.477000	0.44152	GAG	.		0.647	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		G	19638823	A	G	19638823	3	3	24	1	0	0	0	0	1	0	0	0	10302	304	11	4	341	4	NDUFA13	19	19638823	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	6	19638823	39490160	828	3975	38	2									
ZNF91	7644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	23544197	23544197	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:23544197T>C	ENST00000300619.7	-	4	1789	c.1584A>G	c.(1582-1584)agA>agG	p.R528R	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Silent_p.R496R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	528					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)				TTAAGGATTGTCTAAAAGCTT	0.343																																					p.R528R		.											.	.	.	0			c.A1584G						.						39	41	40					19																	23544197		2047	4231	6278	SO:0001819	synonymous_variant	7644	exon4			GGATTGTCTAAAA	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.1584A>G	19.37:g.23544197T>C		88	0		43	21	NM_003430	A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	CCDS42541.1																																																																																			.		0.343	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		C	23544197	T	C	23544197	2	2	24	1	0	0	0	0	0	0	0	1	18248	1664	58	4		4	ZNF91	19	23544197	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3905374	23544197	35584786	829	3976											
ZNF91	7644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	23544752	23544752	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:23544752A>C	ENST00000300619.7	-	4	1234	c.1029T>G	c.(1027-1029)atT>atG	p.I343M	ZNF91_ENST00000397082.2_Missense_Mutation_p.I311M|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	343					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)				CTCCAGTATGAATTCTCTTAT	0.368																																					p.I343M		.											.	.	.	0			c.T1029G						.						55	58	57					19																	23544752		2060	4225	6285	SO:0001583	missense	7644	exon4			AGTATGAATTCTC	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.1029T>G	19.37:g.23544752A>C	ENSP00000300619:p.Ile343Met	67	0		33	14	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	7.961	0.747075	0.15710	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01025	5.43;5.43	2.15	-4.3	0.03710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	L	0.52011	1.625	0.09310	N	0.999998	D;B	0.89917	1.0;0.051	D;B	0.79784	0.993;0.053	T	0.19877	-1.0292	9	0.87932	D	0	.	1.5581	0.02589	0.2001:0.3117:0.3335:0.1547	.	311;343	Q05481-2;Q05481	.;ZNF91_HUMAN	M	343;311	ENSP00000300619:I343M;ENSP00000380272:I311M	ENSP00000300619:I343M	I	-	3	3	ZNF91	23336592	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.217000	0.02979	-1.928000	0.01059	-1.767000	0.00664	ATT	.		0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		C	23544752	A	C	23544752	3	2	24	1	0	0	0	0	1	0	0	0	18248	242	9	4	2550	4	ZNF91	19	23544752	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	555	23544752	35584231	830	3977											
HAMP	57817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	35775743	35775743	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:35775743A>G	ENST00000598398.1	+	3	438	c.142A>G	c.(142-144)Agc>Ggc	p.S48G	HAMP_ENST00000222304.3_Missense_Mutation_p.S48G	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	48					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGCCAGGGCCAGCTGGATGGT	0.632																																					p.S48G		.											.	.	.	0			c.A142G						.						104	101	102					19																	35775743		2203	4300	6503	SO:0001583	missense	57817	exon2			AGGGCCAGCTGGA	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.142A>G	19.37:g.35775743A>G	ENSP00000471894:p.Ser48Gly	37	0		33	12	NM_021175	Q1HE14|Q9BY68	Missense_Mutation	SNP	ENST00000598398.1	37	CCDS12454.1	.	.	.	.	.	.	.	.	.	.	A	0.073	-1.198985	0.01581	.	.	ENSG00000105697	ENST00000222304	D	0.88201	-2.35	4.51	-5.16	0.02857	.	1.094660	0.06924	N	0.809964	T	0.71467	0.3343	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.64356	-0.6427	9	0.02654	T	1	-2.2616	10.3388	0.43864	0.2035:0.1319:0.6646:0.0	.	48	P81172	HEPC_HUMAN	G	48	ENSP00000222304:S48G	ENSP00000222304:S48G	S	+	1	0	HAMP	40467583	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.756000	0.04777	-0.902000	0.03886	-2.455000	0.00206	AGC	.		0.632	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		G	35775743	A	G	35775743	3	3	24	1	0	0	0	0	1	0	0	0	6975	188	7	4	148	4	HAMP	19	35775743	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	12230991	35775743	23353240	831	3978											
ZNF529	57711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	37038201	37038201	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:37038201T>G	ENST00000591340.1	-	5	1417	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T	ZNF529_ENST00000334116.7_Missense_Mutation_p.K315T	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	420					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	Esophageal squamous(110;0.198)					TTTATAGGGTTTTTCACCAGT	0.363																																					p.K420T		.											.	.	.	0			c.A1259C						.						99	110	106					19																	37038201		2143	4282	6425	SO:0001583	missense	57711	exon6			TAGGGTTTTTCAC	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1259A>C	19.37:g.37038201T>G	ENSP00000465578:p.Lys420Thr	69	0		20	9	NM_001145649	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.959860	0.53400	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.19	2.15	0.27550	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65386	0.2686	M	0.80746	2.51	0.26294	N	0.978085	D;D	0.89917	0.997;1.0	D;D	0.72982	0.94;0.979	T	0.53920	-0.8370	8	0.87932	D	0	.	7.123	0.25456	0.0:0.1183:0.0:0.8817	.	315;387	Q6P280-2;Q6P280	.;ZN529_HUMAN	T	420	.	ENSP00000334695:K420T	K	-	2	0	ZNF529	41730041	0.003000	0.15002	0.991000	0.47740	0.988000	0.76386	0.199000	0.17237	0.315000	0.23110	0.482000	0.46254	AAA	.		0.363	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		G	37038201	T	G	37038201	3	3	24	1	0	0	0	0	1	0	0	0	18018	1841	64	4	436	4	ZNF529	19	37038201	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1262458	37038201	22090782	832	3979											
ZNF345	25850	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	37368144	37368144	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:37368144A>C	ENST00000529555.1	+	2	1200	c.412A>C	c.(412-414)Aga>Cga	p.R138R	ZNF345_ENST00000420450.1_Silent_p.R138R|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.R138R|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	138					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)			TCACCATCAGAGAATTCATAC	0.423																																					p.R138R		.											.	.	.	0			c.A412C						.						65	66	66					19																	37368144		2203	4300	6503	SO:0001819	synonymous_variant	25850	exon4			CATCAGAGAATTC	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.412A>C	19.37:g.37368144A>C		74	0		35	12	NM_001242476		Silent	SNP	ENST00000529555.1	37	CCDS12497.1																																																																																			.		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			C	37368144	A	C	37368144	2	2	24	1	0	0	0	0	0	0	0	1	17907	296	11	4		4	ZNF345	19	37368144	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	329943	37368144	21760839	833	3980	39	2									
ZNF345	25850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	37368149	37368149	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:37368149T>G	ENST00000529555.1	+	2	1205	c.417T>G	c.(415-417)atT>atG	p.I139M	ZNF345_ENST00000420450.1_Missense_Mutation_p.I139M|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.I139M|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	139					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)			ATCAGAGAATTCATACTGGTG	0.423																																					p.I139M		.											.	.	.	0			c.T417G						.						66	66	66					19																	37368149		2203	4300	6503	SO:0001583	missense	25850	exon4			GAGAATTCATACT	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.417T>G	19.37:g.37368149T>G	ENSP00000431202:p.Ile139Met	73	0		37	14	NM_001242476		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326255	0.41197	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.18810	2.19;2.19	3.93	0.381	0.16228	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23611	0.0571	L	0.33624	1.015	0.21802	N	0.999538	D	0.59357	0.985	P	0.60949	0.881	T	0.11842	-1.0571	8	.	.	.	.	2.4474	0.04509	0.3077:0.2349:0.0:0.4574	.	139	Q14585	ZN345_HUMAN	M	139	ENSP00000431216:I139M;ENSP00000431202:I139M	.	I	+	3	3	ZNF345	42059989	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.430000	0.02434	0.207000	0.20607	0.459000	0.35465	ATT	.		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			G	37368149	T	G	37368149	3	3	24	1	0	0	0	0	1	0	0	0	17907	1771	62	4	419	4	ZNF345	19	37368149	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	5	37368149	21760834	834	3981	39	2									
ZNF569	148266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	37904939	37904939	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:37904939A>G	ENST00000316950.6	-	6	1178	c.621T>C	c.(619-621)atT>atC	p.I207I	ZNF569_ENST00000392150.2_Silent_p.I48I|ZNF569_ENST00000392149.2_Silent_p.I207I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	207					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)			CTCCAGTATGAATTCTCAGAT	0.373																																					p.I207I		.											.	.	.	0			c.T621C						.						63	65	65					19																	37904939		2203	4300	6503	SO:0001819	synonymous_variant	148266	exon6			AGTATGAATTCTC	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.621T>C	19.37:g.37904939A>G		92	0		61	26	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	CCDS12503.1																																																																																			.		0.373	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		G	37904939	A	G	37904939	2	3	24	1	0	0	0	0	0	0	0	1	18048	242	9	4		4	ZNF569	19	37904939	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	536790	37904939	21224044	835	3982											
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	38689097	38689097	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:38689097G>T	ENST00000222345.6	+	19	5418	c.4909G>T	c.(4909-4911)Ggg>Tgg	p.G1637W	CTB-102L5.8_ENST00000598146.1_RNA|RN7SL663P_ENST00000578592.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1637					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)			CCTGGACCCTGGGCTGATGCC	0.682																																					p.G1637W		.											.	.	.	0			c.G4909T						.						70	79	76					19																	38689097		2201	4294	6495	SO:0001583	missense	23094	exon19			GACCCTGGGCTGA	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.4909G>T	19.37:g.38689097G>T	ENSP00000222345:p.Gly1637Trp	22	0		21	12	NM_015073	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069197	0.93950	.	.	ENSG00000105738	ENST00000222345	T	0.38240	1.15	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64188	-0.6466	10	0.87932	D	0	-41.3964	18.3375	0.90294	0.0:0.0:1.0:0.0	.	1637	O60292	SI1L3_HUMAN	W	1637	ENSP00000222345:G1637W	ENSP00000222345:G1637W	G	+	1	0	SIPA1L3	43380937	1.000000	0.71417	0.959000	0.39883	0.970000	0.65996	9.214000	0.95140	2.625000	0.88918	0.650000	0.86243	GGG	.		0.682	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38689097	G	T	38689097	3	4	24	1	0	0	0	0	1	0	0	0	14376	1348	47	3	4975	3	SIPA1L3	19	38689097	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	784158	38689097	20439886	836	3983											
FBL	2091	broad.mit.edu	37	19	40331279	40331279	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:40331279G>A	ENST00000221801.3	-	2	272	c.159C>T	c.(157-159)ggC>ggT	p.G53G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	53	DMA/Gly-rich.				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)		ctcctccaccgccgccgccgc	0.657																																					p.G53G													.	FBL	37	0			c.C159T						.						18	21	20					19																	40331279		2201	4299	6500	SO:0001819	synonymous_variant	2091	exon2			TCCACCGCCGCCG	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.159C>T	19.37:g.40331279G>A		82	2		62	5	NM_001436	B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	CCDS12545.1																																																																																			.		0.657	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		A	40331279	G	A	40331279	2	1	24	1	0	0	0	0	0	0	0	1	5718	1074	38	1		1	FBL	19	40331279	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1642182	40331279	18797704	837	3984											
C19orf54	284325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	41248653	41248653	+	Silent	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:41248653A>T	ENST00000378313.2	-	6	860	c.741T>A	c.(739-741)gcT>gcA	p.A247A	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598729.1_Silent_p.A75A|C19orf54_ENST00000339153.3_Silent_p.A75A	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	247										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GACTGGGCACAGCCCGAACAC	0.662																																					p.A247A		.											.	.	.	0			c.T741A						.						21	21	21					19																	41248653		2203	4296	6499	SO:0001819	synonymous_variant	284325	exon6			GGGCACAGCCCGA	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.741T>A	19.37:g.41248653A>T		12	0		26	15	NM_198476	A8MSZ5|B4DNU7	Silent	SNP	ENST00000378313.2	37	CCDS12564.2																																																																																			.		0.662	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		T	41248653	A	T	41248653	2	4	24	1	0	0	0	0	0	0	0	1	1943	175	7	5		5	C19orf54	19	41248653	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	917374	41248653	17880330	838	3985											
CYP2F1	1572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	41633960	41633960	+	Silent	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:41633960T>A	ENST00000331105.2	+	10	1521	c.1449T>A	c.(1447-1449)ccT>ccA	p.P483P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	483					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						TGCCGCGGCCTTTCCAGCTGT	0.657																																					p.P483P		.											.	.	.	0			c.T1449A						.						26	30	29					19																	41633960		2202	4300	6502	SO:0001819	synonymous_variant	1572	exon10			GCGGCCTTTCCAG	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.1449T>A	19.37:g.41633960T>A		81	0		49	23	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	CCDS12572.1																																																																																			.		0.657	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			A	41633960	T	A	41633960	2	1	24	1	0	0	0	0	0	0	0	1	4180	1596	56	5		5	CYP2F1	19	41633960	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	385307	41633960	17495023	839	3986											
GRIK5	2901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	42525501	42525501	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:42525501G>A	ENST00000262895.3	-	14	1822	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	GRIK5_ENST00000301218.4_Missense_Mutation_p.S608L|GRIK5_ENST00000593562.1_Missense_Mutation_p.S608L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	608					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)				CATGATCTCCGAGCCCTGCTG	0.657																																					p.S608L		.											.	.	.	0			c.C1823T						.						34	32	33					19																	42525501		2203	4300	6503	SO:0001583	missense	2901	exon14			ATCTCCGAGCCCT		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.1823C>T	19.37:g.42525501G>A	ENSP00000262895:p.Ser608Leu	63	0		36	17	NM_002088	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872873	0.91587	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.52754	0.65;0.65	4.51	4.51	0.55191	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000002	T	0.60573	0.2279	M	0.85462	2.755	0.46874	D	0.999234	P	0.52842	0.956	P	0.47376	0.545	T	0.71994	-0.4424	10	0.87932	D	0	.	16.0191	0.80468	0.0:0.0:1.0:0.0	.	608	Q16478	GRIK5_HUMAN	L	608	ENSP00000262895:S608L;ENSP00000301218:S608L	ENSP00000262895:S608L	S	-	2	0	GRIK5	47217341	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.835000	0.99442	2.055000	0.61198	0.563000	0.77884	TCG	.		0.657	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42525501	G	A	42525501	3	1	24	1	0	0	0	0	1	0	0	0	6804	1059	37	1	1143	1	GRIK5	19	42525501	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	891541	42525501	16603482	840	3987											
ZNF526	116115	hgsc.bcm.edu	37	19	42729173	42729173	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:42729173C>T	ENST00000301215.3	+	3	843	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	206	Glu-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)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTACCCTCTGCGCCACCCCTG	0.587																																					p.C206C		.											ZNF526,NS,carcinoma,0,1	ZNF526	0	0			c.C618T						.						140	132	135					19																	42729173		2203	4300	6503	SO:0001819	synonymous_variant	116115	exon3			CCTCTGCGCCACC	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.618C>T	19.37:g.42729173C>T		27	0		19	2	NM_133444	B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	CCDS12598.1																																																																																			.		0.587	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		T	42729173	C	T	42729173	2	4	24	1	0	0	0	0	0	0	0	1	18015	776	27	1		1	ZNF526	19	42729173	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	203672	42729173	16399810	841	3988											
CEACAM1	634	bcgsc.ca	37	19	43031434	43031434	+	Missense_Mutation	SNP	T	T	A	rs140316654		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:43031434T>A	ENST00000161559.6	-	2	317	c.183A>T	c.(181-183)caA>caT	p.Q61H	CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q61H|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q61H|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q61H|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q61H|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q61H|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q61H|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q21H	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	61	Ig-like V-type.				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)	AGCCAAAAAGTTGCTGGGGCA	0.522																																					p.Q61H													.	CEACAM1	43	0			c.A183T						.						205	169	181					19																	43031434		2203	4300	6503	SO:0001583	missense	634	exon2			AAAAAGTTGCTGG	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.183A>T	19.37:g.43031434T>A	ENSP00000161559:p.Gln61His	121	2		85	5	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	.	.	.	.	.	.	.	.	.	.	a	9.737	1.163731	0.21538	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.01527	4.8;4.8;4.8;4.8;4.8;4.8;4.8	3.6	-2.71	0.05986	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00637	0.0021	N	0.01048	-1.04	0.09310	N	1	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	B;B;B;B;B;B;B;B;B;B	0.08055	0.003;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.45804	-0.9236	9	0.41790	T	0.15	.	1.0812	0.01643	0.3:0.1745:0.3535:0.172	.	61;61;61;61;61;61;61;61;61;61	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	H	61;61;61;88;21;61;61;61;21;61;61;61	ENSP00000161559:Q61H;ENSP00000351165:Q61H;ENSP00000325946:Q61H;ENSP00000244291:Q61H;ENSP00000384709:Q61H;ENSP00000384083:Q61H;ENSP00000312184:Q21H	ENSP00000161559:Q61H	Q	-	3	2	CEACAM1	47723274	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.340000	0.02650	-0.660000	0.05352	-0.508000	0.04489	CAA	.		0.522	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		A	43031434	T	A	43031434	3	1	24	1	0	0	0	0	1	0	0	0	3194	1722	60	5	1526	5	CEACAM1	19	43031434	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	302261	43031434	16097549	842	3989											
PSG5	5673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	43690496	43690496	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:43690496G>A	ENST00000366175.3	-	1	192	c.62C>T	c.(61-63)aCa>aTa	p.T21I	PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.T21I|PSG5_ENST00000407568.1_Missense_Mutation_p.T21I|PSG5_ENST00000404580.1_Missense_Mutation_p.T21I|PSG5_ENST00000342951.6_Missense_Mutation_p.T21I|PSG5_ENST00000599812.1_Missense_Mutation_p.T21I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	21					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)				CTCCTCACCTGTGAGCAGGAG	0.577																																					p.T21I		.											.	.	.	0			c.C62T						.						85	85	85					19																	43690496		2203	4292	6495	SO:0001583	missense	5673	exon1			TCACCTGTGAGCA		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.62C>T	19.37:g.43690496G>A	ENSP00000382334:p.Thr21Ile	97	0		70	26	NM_002781	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	12.52	1.963046	0.34659	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01495	5.12;5.12;4.83;5.12;5.1	1.41	1.41	0.22369	.	.	.	.	.	T	0.08179	0.0204	M	0.84219	2.685	0.09310	N	1	P;P;P	0.52577	0.954;0.887;0.786	D;P;P	0.65323	0.934;0.823;0.823	T	0.09400	-1.0676	9	0.66056	D	0.02	.	6.2837	0.21021	0.0:0.0:1.0:0.0	.	21;21;21	E9PC55;Q15228;Q15238	.;.;PSG5_HUMAN	I	21	ENSP00000382334:T21I;ENSP00000386008:T21I;ENSP00000386053:T21I;ENSP00000344413:T21I;ENSP00000385250:T21I	ENSP00000344413:T21I	T	-	2	0	PSG5	48382336	0.998000	0.40836	0.108000	0.21378	0.121000	0.20230	1.962000	0.40442	1.099000	0.41499	0.184000	0.17185	ACA	.		0.577	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		A	43690496	G	A	43690496	3	1	24	1	0	0	0	0	1	0	0	0	12700	1377	48	3	965	3	PSG5	19	43690496	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	659062	43690496	15438487	843	3990											
BCL3	602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45254588	45254588	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:45254588C>T	ENST00000164227.5	+	2	605	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	121					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)				GGAACACCCCCTTTCTGCTGA	0.597			T	IGH@	CLL																																p.L121F		.		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	.	.	0			c.C361T						.						121	99	107					19																	45254588		2203	4300	6503	SO:0001583	missense	602	exon2			CACCCCCTTTCTG	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.361C>T	19.37:g.45254588C>T	ENSP00000164227:p.Leu121Phe	32	0		23	17	NM_005178		Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.80|19.80	3.894312|3.894312	0.72639|0.72639	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000403534;ENST00000164227|ENST00000444487	T|T	0.49432|0.45668	0.78|0.89	5.19|5.19	3.03|3.03	0.35002|0.35002	.|.	0.000000|.	0.38381|.	N|.	0.001704|.	T|T	0.28466|0.28466	0.0704|0.0704	L|L	0.29908|0.29908	0.895|0.895	0.37252|0.37252	D|D	0.906628|0.906628	D|.	0.71674|.	0.998|.	D|.	0.83275|.	0.996|.	T|T	0.11084|0.11084	-1.0602|-1.0602	10|7	0.62326|0.02654	D|T	0.03|1	-16.5854|-16.5854	10.0819|10.0819	0.42395|0.42395	0.0:0.83:0.0:0.17|0.0:0.83:0.0:0.17	.|.	121|.	P20749|.	BCL3_HUMAN|.	F|L	81;121|4	ENSP00000164227:L121F|ENSP00000393731:P4L	ENSP00000164227:L121F|ENSP00000393731:P4L	L|P	+|+	1|2	0|0	BCL3|BCL3	49946428|49946428	0.969000|0.969000	0.33509|0.33509	0.992000|0.992000	0.48379|0.48379	0.846000|0.846000	0.48090|0.48090	1.334000|1.334000	0.33827|0.33827	1.193000|1.193000	0.43086|0.43086	0.455000|0.455000	0.32223|0.32223	CTT|CCT	.		0.597	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		T	45254588	C	T	45254588	3	4	24	1	0	0	0	0	1	0	0	0	1376	681	24	3	367	3	BCL3	19	45254588	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1564092	45254588	13874395	844	3991											
BLOC1S3	388552	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	45683097	45683097	+	Silent	SNP	C	C	A	rs540921310		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:45683097C>A	ENST00000433642.2	+	2	639	c.543C>A	c.(541-543)cgC>cgA	p.R181R	TRAPPC6A_ENST00000588062.1_5'Flank|TRAPPC6A_ENST00000585934.1_5'Flank|BLOC1S3_ENST00000587722.1_Silent_p.R181R|TRAPPC6A_ENST00000592647.1_5'Flank|AC005779.2_ENST00000593083.1_Silent_p.R6R|TRAPPC6A_ENST00000006275.4_5'Flank	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	181					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CTGGCTGCCGCCTGCTGCCGG	0.711									Hermansky-Pudlak syndrome																												p.R181R		.											.	.	.	0			c.C543A						.						14	14	14					19																	45683097		1685	3416	5101	SO:0001819	synonymous_variant	388552	exon2	Familial Cancer Database	HPS, HPS1-8	CTGCCGCCTGCTG	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"Biogenesis of lysosomal organelles complex-1 subunits"	20914	protein-coding gene	gene with protein product	"BLOC-1 subunit 3", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 3", "Hermansky-Pudlak syndrome 8"	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.543C>A	19.37:g.45683097C>A		26	0		8	6	NM_212550	B2RXB8	Silent	SNP	ENST00000433642.2	37	CCDS12656.1																																																																																			.		0.711	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	NM_212550		A	45683097	C	A	45683097	2	1	24	1	0	0	0	0	0	0	0	1	1452	726	26	3		3	BLOC1S3	19	45683097	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	428509	45683097	13445886	845	3992											
ERCC2	2068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45855787	45855787	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:45855787C>A	ENST00000391945.4	-	21	2100	c.2023G>T	c.(2023-2025)Ggc>Tgc	p.G675C	ERCC2_ENST00000391944.3_Missense_Mutation_p.G597C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	675			G -> R (in XP-D/CS; severe form). {ECO:0000269|PubMed:7825573}.		7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|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)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|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)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCATGAGGCCGTAGTCCGTC	0.597			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.G675C		.	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	ERCC2_ENST00000391945,bladder,carcinoma,0,1	ERCC2_ENST00000391945	0	0			c.G2023T	GRCh37	CM950364	ERCC2	M		.						76	66	70					19																	45855787		2203	4300	6503	SO:0001583	missense	2068	exon21	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TGAGGCCGTAGTC		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2023G>T	19.37:g.45855787C>A	ENSP00000375809:p.Gly675Cys	44	0		43	21	NM_000400	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073639	0.76415	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.82344	-1.6;-1.6	5.14	5.14	0.70334	Helicase, ATP-dependent, c2 type (1);	0.110771	0.64402	D	0.000010	D	0.95149	0.8428	H	0.99156	4.45	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97267	0.9908	10	0.87932	D	0	-35.7354	16.0952	0.81114	0.0:1.0:0.0:0.0	.	597;675;368	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	C	625;651;675;597	ENSP00000375809:G675C;ENSP00000375808:G597C	ENSP00000375805:G625C	G	-	1	0	ERCC2	50547627	1.000000	0.71417	0.979000	0.43373	0.488000	0.33401	6.923000	0.75817	2.391000	0.81399	0.561000	0.74099	GGC	.		0.597	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		A	45855787	C	A	45855787	3	1	24	1	0	0	0	0	1	0	0	0	5229	652	23	2	271	2	ERCC2	19	45855787	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	172690	45855787	13273196	846	3993											
PPP5C	5536	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	46891939	46891939	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:46891939G>A	ENST00000012443.4	+	11	1409	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	PPP5C_ENST00000391919.1_Missense_Mutation_p.V308M|AC007193.8_ENST00000598616.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	436	Catalytic.				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)		GGGCTACGAGGTGGCTCACGG	0.577																																					p.V436M													.	PPP5C	44	0			c.G1306A						.						121	105	111					19																	46891939		2203	4300	6503	SO:0001583	missense	5536	exon11			TACGAGGTGGCTC		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.1306G>A	19.37:g.46891939G>A	ENSP00000012443:p.Val436Met	24	0		12	5	NM_006247	Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543299	0.45280	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.65549	-0.16;-0.16	5.09	5.09	0.68999	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	L	0.60957	1.885	0.80722	D	1	P;P	0.43477	0.784;0.808	B;B	0.31390	0.129;0.085	T	0.63216	-0.6687	10	0.51188	T	0.08	-19.6586	15.9745	0.80049	0.0:0.0:1.0:0.0	.	436;436	B2R6R6;P53041	.;PPP5_HUMAN	M	436;423;308	ENSP00000012443:V436M;ENSP00000375786:V308M	ENSP00000012443:V436M	V	+	1	0	PPP5C	51583779	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	9.180000	0.94867	2.367000	0.80283	0.561000	0.74099	GTG	.		0.577	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		A	46891939	G	A	46891939	3	1	24	1	0	0	0	0	1	0	0	0	12448	1261	44	3	1348	3	PPP5C	19	46891939	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1036152	46891939	12237044	847	3994											
SAE1	10055	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	47712448	47712450	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:47712448_47712450delCTT	ENST00000270225.7	+	9	1049_1051	c.981_983delCTT	c.(979-984)aacttc>aac	p.F331del	SAE1_ENST00000598840.1_In_Frame_Del_p.F250del|SAE1_ENST00000392776.3_3'UTR|SAE1_ENST00000540850.1_In_Frame_Del_p.F157del|SAE1_ENST00000413379.3_In_Frame_Del_p.L259del	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	331					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)		CTCACAACAACTTCTTCTTCTTC	0.493																																					p.327_328del		.											.	.	.	0			c.980_982del						.																																			SO:0001651	inframe_deletion	10055	exon9			CAACAACTTCTTC	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.981_983delCTT	19.37:g.47712457_47712459delCTT	ENSP00000270225:p.Phe331del	57	0		37	13	NM_005500	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	In_Frame_Del	DEL	ENST00000270225.7	37	CCDS12696.1																																																																																			.		0.493	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		-	47712450	CTT	-	47712448	7	5	24	1	0	1	0	1	0	0	0	0	13850	565	20	0	1015	0	SAE1	19	47712448	In_Frame_Del	DEL	CTT	TCGA-W5-AA39-01A-11D-A417-09	820509	47712448	11416535	848	3995											
SPHK2	56848	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	49132945	49132945	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:49132945A>C	ENST00000245222.4	+	7	2246	c.1880A>C	c.(1879-1881)gAg>gCg	p.E627A	SPHK2_ENST00000599748.1_Missense_Mutation_p.E591A|SPHK2_ENST00000340932.3_Missense_Mutation_p.E589A|SPHK2_ENST00000443164.1_Missense_Mutation_p.E689A|SPHK2_ENST00000598088.1_Missense_Mutation_p.E627A|SPHK2_ENST00000599029.1_Missense_Mutation_p.E591A|SPHK2_ENST00000600537.1_Missense_Mutation_p.E568A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	627					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)		GAGCAGGTGGAGTATGGGCCG	0.677																																					p.E627A													.	SPHK2	62	0			c.A1880C						.						19	18	18					19																	49132945		2201	4297	6498	SO:0001583	missense	56848	exon7			AGGTGGAGTATGG	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.1880A>C	19.37:g.49132945A>C	ENSP00000245222:p.Glu627Ala	26	0		13	5	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095359	0.76870	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.13778	2.56;2.56;2.56	4.78	4.78	0.61160	.	0.129958	0.51477	D	0.000090	T	0.13329	0.0323	L	0.34521	1.04	0.34390	D	0.694095	P;P;D	0.58620	0.9;0.47;0.983	B;B;P	0.46796	0.284;0.109;0.527	T	0.20240	-1.0281	10	0.20519	T	0.43	-50.5664	12.5766	0.56367	1.0:0.0:0.0:0.0	.	568;689;627	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	A	627;600;589;689	ENSP00000245222:E627A;ENSP00000341091:E589A;ENSP00000413369:E689A	ENSP00000245222:E627A	E	+	2	0	SPHK2	53824757	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	1.991000	0.40727	2.142000	0.66516	0.454000	0.30748	GAG	.		0.677	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			C	49132945	A	C	49132945	3	2	24	1	0	0	0	0	1	0	0	0	15094	304	11	4	1902	4	SPHK2	19	49132945	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1420497	49132945	9996038	849	3996	40	2									
SPHK2	56848	broad.mit.edu;ucsc.edu	37	19	49132949	49132949	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:49132949T>A	ENST00000245222.4	+	7	2250	c.1884T>A	c.(1882-1884)taT>taA	p.Y628*	SPHK2_ENST00000599748.1_Nonsense_Mutation_p.Y592*|SPHK2_ENST00000340932.3_Nonsense_Mutation_p.Y590*|SPHK2_ENST00000443164.1_Nonsense_Mutation_p.Y690*|SPHK2_ENST00000598088.1_Nonsense_Mutation_p.Y628*|SPHK2_ENST00000599029.1_Nonsense_Mutation_p.Y592*|SPHK2_ENST00000600537.1_Nonsense_Mutation_p.Y569*	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	628					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)		AGGTGGAGTATGGGCCGCTAC	0.672																																					p.Y628X													.	SPHK2	62	0			c.T1884A						.						19	18	18					19																	49132949		2200	4297	6497	SO:0001587	stop_gained	56848	exon7			GGAGTATGGGCCG	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.1884T>A	19.37:g.49132949T>A	ENSP00000245222:p.Tyr628*	25	0		13	5	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Nonsense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	T	39	7.812081	0.98504	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	.	.	.	4.78	-5.62	0.02481	.	0.138680	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.2219	12.907	0.58158	0.0:0.1924:0.0:0.8076	.	.	.	.	X	628;601;590;690	.	ENSP00000245222:Y628X	Y	+	3	2	SPHK2	53824761	0.000000	0.05858	0.986000	0.45419	0.977000	0.68977	-3.229000	0.00549	-0.538000	0.06281	0.454000	0.30748	TAT	.		0.672	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			A	49132949	T	A	49132949	4	1	24	1	0	0	0	0	0	1	0	0	15094	1471	51	5	1906	5	SPHK2	19	49132949	Nonsense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4	49132949	9996034	850	3997	40	2									
HSD17B14	51171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	49339067	49339067	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:49339067T>G	ENST00000263278.4	-	2	388	c.122A>C	c.(121-123)aAg>aCg	p.K41T	HSD17B14_ENST00000599157.1_Missense_Mutation_p.K41T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	41					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)		CTCACCATCCTTGTCGCAGAT	0.612											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K41T		.											.	.	.	0			c.A122C						.						99	83	89					19																	49339067		2203	4299	6502	SO:0001583	missense	51171	exon2			CCATCCTTGTCGC	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.122A>C	19.37:g.49339067T>G	ENSP00000263278:p.Lys41Thr	36	0	961	22	9	NM_016246	Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	37	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	-	7.168	0.587023	0.13749	.	.	ENSG00000087076	ENST00000263278	T	0.21191	2.02	2.96	2.96	0.34315	NAD(P)-binding domain (1);	0.286281	0.27966	N	0.017129	T	0.10121	0.0248	N	0.11154	0.105	0.34385	D	0.693501	B	0.24186	0.099	B	0.27887	0.084	T	0.18967	-1.0320	10	0.22706	T	0.39	.	7.7492	0.28888	0.0:0.0:0.0:1.0	.	41	Q9BPX1	DHB14_HUMAN	T	41	ENSP00000263278:K41T	ENSP00000263278:K41T	K	-	2	0	HSD17B14	54030879	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	2.091000	0.41691	1.593000	0.50029	0.370000	0.22315	AAG	.		0.612	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		G	49339067	T	G	49339067	3	3	24	1	0	0	0	0	1	0	0	0	7410	1609	56	4	722	4	HSD17B14	19	49339067	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	206118	49339067	9789916	851	3998											
FUZ	80199	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	50314691	50314691	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:50314691C>A	ENST00000313777.4	-	5	584	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000445575.2_Missense_Mutation_p.D141Y|FUZ_ENST00000528094.1_Missense_Mutation_p.D105Y|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Missense_Mutation_p.D91Y	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	141					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGCTCCGAGTCCCCCAGGAAG	0.567																																					p.D141Y		.											.	.	.	0			c.G421T						.						63	55	58					19																	50314691		2203	4300	6503	SO:0001583	missense	80199	exon5			CCGAGTCCCCCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.421G>T	19.37:g.50314691C>A	ENSP00000313309:p.Asp141Tyr	52	0		26	13	NM_025129	B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156461	0.57259	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.21	-0.733	0.11144	.	0.371978	0.28901	N	0.013773	T	0.19248	0.0462	L	0.46157	1.445	0.35560	D	0.80456	P;P;P	0.48016	0.904;0.874;0.828	B;P;P	0.48141	0.407;0.568;0.452	T	0.17715	-1.0360	10	0.59425	D	0.04	-17.0546	4.0439	0.09764	0.0:0.3405:0.3443:0.3152	.	141;105;141	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	Y	105;91;141;141;41;141;91;141	ENSP00000435177:D105Y;ENSP00000431731:D91Y;ENSP00000313309:D141Y;ENSP00000408018:D141Y	ENSP00000313309:D141Y	D	-	1	0	FUZ	55006503	0.206000	0.23470	0.981000	0.43875	0.904000	0.53231	0.107000	0.15375	-0.209000	0.10156	0.462000	0.41574	GAC	.		0.567	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		A	50314691	C	A	50314691	3	1	24	1	0	0	0	0	1	0	0	0	6136	855	30	3	863	3	FUZ	19	50314691	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	975624	50314691	8814292	852	3999											
ATF5	22809	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	50436094	50436094	+	Silent	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:50436094C>T	ENST00000423777.2	+	3	971	c.594C>T	c.(592-594)gcC>gcT	p.A198A	MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Silent_p.A198A|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	198	Interaction with PTP4A1. {ECO:0000250}.				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)	CTCGCCTGGCCCCCTACCCAC	0.672																																					p.A198A	GBM(48;768 989 9196 9511 26329)	.											.	.	.	0			c.C594T						.						32	24	27					19																	50436094		2202	4299	6501	SO:0001819	synonymous_variant	22809	exon4			CCTGGCCCCCTAC	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.594C>T	19.37:g.50436094C>T		60	0		35	24	NM_012068	B3KND3|Q9BSA1|Q9UNQ3	Silent	SNP	ENST00000423777.2	37	CCDS12789.1																																																																																			.		0.672	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			T	50436094	C	T	50436094	2	4	24	1	0	0	0	0	0	0	0	1	1084	610	22	3		3	ATF5	19	50436094	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	121403	50436094	8692889	853	4000											
TMC4	147798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54672203	54672203	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:54672203T>A	ENST00000376591.4	-	4	795	c.664A>T	c.(664-666)Acc>Tcc	p.T222S	TMC4_ENST00000301187.4_Missense_Mutation_p.T216S|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	222					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)					AAGAGCTGGGTGGCAAAGGTG	0.662											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T222S		.											.	.	.	0			c.A664T						.						19	16	17					19																	54672203		2058	4051	6109	SO:0001583	missense	147798	exon4			GCTGGGTGGCAAA	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.664A>T	19.37:g.54672203T>A	ENSP00000365776:p.Thr222Ser	68	0	1002	39	13	NM_001145303	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	T	2.214	-0.380088	0.05000	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.45276	0.9;0.9;0.9	4.03	-2.24	0.06909	.	0.525281	0.18785	N	0.131215	T	0.18593	0.0446	L	0.31526	0.94	0.09310	N	0.999996	B;B	0.18863	0.031;0.004	B;B	0.14578	0.011;0.006	T	0.31392	-0.9945	10	0.02654	T	1	-7.0421	3.455	0.07512	0.4455:0.2861:0.0:0.2683	.	222;216	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	S	216;222;126	ENSP00000301187:T216S;ENSP00000365776:T222S;ENSP00000416444:T126S	ENSP00000301187:T216S	T	-	1	0	TMC4	59364015	0.001000	0.12720	0.278000	0.24718	0.527000	0.34593	-0.438000	0.06905	-0.538000	0.06281	-0.379000	0.06801	ACC	.		0.662	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			A	54672203	T	A	54672203	3	1	24	1	0	0	0	0	1	0	0	0	16034	1696	59	5	1522	5	TMC4	19	54672203	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4236109	54672203	4456780	854	4001											
NLRP8	126205	hgsc.bcm.edu;bcgsc.ca	37	19	56467321	56467321	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:56467321G>T	ENST00000291971.3	+	3	1968	c.1897G>T	c.(1897-1899)Gtc>Ttc	p.V633F	NLRP8_ENST00000590542.1_Missense_Mutation_p.V633F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	633					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)		TCATAAAGTTGTCTTGAGAAT	0.463																																					p.V633F		.											.	.	.	0			c.G1897T						.						124	116	119					19																	56467321		2203	4300	6503	SO:0001583	missense	126205	exon3			AAAGTTGTCTTGA	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.1897G>T	19.37:g.56467321G>T	ENSP00000291971:p.Val633Phe	94	0		54	4	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413205	0.25465	.	.	ENSG00000179709	ENST00000291971	D	0.87571	-2.27	2.03	-3.94	0.04130	.	.	.	.	.	T	0.81631	0.4863	L	0.46157	1.445	0.09310	N	1	P;B	0.42785	0.79;0.08	P;B	0.44990	0.466;0.029	T	0.72481	-0.4280	9	0.54805	T	0.06	.	4.7461	0.13038	0.2735:0.2128:0.5137:0.0	.	633;633	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	633	ENSP00000291971:V633F	ENSP00000291971:V633F	V	+	1	0	NLRP8	61159133	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.168000	0.00574	-1.137000	0.02888	-0.507000	0.04495	GTC	.		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56467321	G	T	56467321	3	4	24	1	0	0	0	0	1	0	0	0	10522	1377	48	3	1907	3	NLRP8	19	56467321	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1795118	56467321	2661662	855	4002											
NLRP5	126206	hgsc.bcm.edu	37	19	56527149	56527149	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:56527149G>A	ENST00000390649.3	+	4	550	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	184					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)		cacagctgcagagacaaaaga	0.393																																					p.E184K		.											NLRP5_ENST00000390649,colon,carcinoma,0,1	NLRP5_ENST00000390649	0	0			c.G550A						.						75	70	72					19																	56527149		1900	4098	5998	SO:0001583	missense	126206	exon4			GCTGCAGAGACAA	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.550G>A	19.37:g.56527149G>A	ENSP00000375063:p.Glu184Lys	49	0		41	2	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	3.680	-0.065784	0.07273	.	.	ENSG00000171487	ENST00000390649	T	0.72282	-0.64	0.109	0.109	0.14578	.	.	.	.	.	T	0.38957	0.1060	N	0.08118	0	0.09310	N	1	P	0.35011	0.48	B	0.24974	0.057	T	0.22765	-1.0207	8	0.11794	T	0.64	.	.	.	.	.	184	P59047	NALP5_HUMAN	K	184	ENSP00000375063:E184K	ENSP00000375063:E184K	E	+	1	0	NLRP5	61218961	0.065000	0.20965	0.050000	0.19076	0.051000	0.14879	0.218000	0.17622	0.181000	0.19994	0.184000	0.17185	GAG	.		0.393	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56527149	G	A	56527149	3	1	24	1	0	0	0	0	1	0	0	0	10519	943	33	3	564	3	NLRP5	19	56527149	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	59828	56527149	2601834	856	4003											
ZNF583	147949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	56935139	56935139	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:56935139A>G	ENST00000333201.9	+	5	1322	c.1112A>G	c.(1111-1113)cAg>cGg	p.Q371R	ZNF583_ENST00000291598.7_Missense_Mutation_p.Q371R|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	371					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATTGTACATCAGAGAATTCAT	0.428																																					p.Q371R		.											.	.	.	0			c.A1112G						.						99	101	101					19																	56935139		2203	4300	6503	SO:0001583	missense	147949	exon5			TACATCAGAGAAT	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1112A>G	19.37:g.56935139A>G	ENSP00000388502:p.Gln371Arg	67	0		33	11	NM_001159861	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172446	0.57584	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07327	3.2;3.2	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	D	0.000741	T	0.09024	0.0223	N	0.17901	0.54	0.24492	N	0.994293	P	0.39920	0.695	P	0.49665	0.618	T	0.22800	-1.0206	9	.	.	.	.	8.1728	0.31264	0.9031:0.0:0.0969:0.0	.	371	Q96ND8	ZN583_HUMAN	R	371	ENSP00000291598:Q371R;ENSP00000388502:Q371R	.	Q	+	2	0	ZNF583	61626951	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	0.842000	0.27627	1.953000	0.56701	0.379000	0.24179	CAG	.		0.428	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		G	56935139	A	G	56935139	3	3	24	1	0	0	0	0	1	0	0	0	18063	188	7	4	1126	4	ZNF583	19	56935139	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	407990	56935139	2193844	857	4004											
ZNF134	7693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58132575	58132575	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:58132575A>T	ENST00000396161.5	+	3	1398	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	363					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)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATTGCACACCAGAGGGTTCAC	0.443																																					p.Q363L		.											.	.	.	0			c.A1088T						.						104	110	108					19																	58132575		2181	4283	6464	SO:0001583	missense	7693	exon3			CACACCAGAGGGT	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1088A>T	19.37:g.58132575A>T	ENSP00000379464:p.Gln363Leu	75	0		40	20	NM_003435	Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.275179	0.80580	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.14391	2.51	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22975	0.0555	N	0.26042	0.785	0.27665	N	0.946952	D	0.67145	0.996	D	0.63597	0.916	T	0.04885	-1.0920	9	0.87932	D	0	.	13.037	0.58877	1.0:0.0:0.0:0.0	.	363	P52741	ZN134_HUMAN	L	430;283;363	ENSP00000379464:Q363L	ENSP00000379464:Q363L	Q	+	2	0	ZNF134	62824387	0.010000	0.17322	1.000000	0.80357	0.995000	0.86356	1.519000	0.35888	1.973000	0.57446	0.533000	0.62120	CAG	.		0.443	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		T	58132575	A	T	58132575	3	4	24	1	0	0	0	0	1	0	0	0	17772	188	7	5	1094	5	ZNF134	19	58132575	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1197436	58132575	996408	858	4005											
ZNF606	80095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58491019	58491019	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:58491019G>T	ENST00000341164.4	-	7	1649	c.1029C>A	c.(1027-1029)aaC>aaA	p.N343K	ZNF606_ENST00000536132.1_Missense_Mutation_p.N253K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AATTATACTGGTTTTCTCCAA	0.318																																					p.N343K		.											.	.	.	0			c.C1029A						.						110	112	112					19																	58491019		2203	4299	6502	SO:0001583	missense	80095	exon7			ATACTGGTTTTCT	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1029C>A	19.37:g.58491019G>T	ENSP00000343617:p.Asn343Lys	101	0		46	16	NM_025027	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324664	0.01309	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.10477	2.87;2.87;2.87	4.29	2.17	0.27698	Zinc finger, C2H2 (1);	0.000000	0.48767	D	0.000171	T	0.01421	0.0046	N	0.00146	-1.995	0.29252	N	0.871893	B	0.09022	0.002	B	0.06405	0.002	T	0.39014	-0.9634	10	0.02654	T	1	.	1.5325	0.02539	0.1897:0.1646:0.4764:0.1693	.	343	Q8WXB4	ZN606_HUMAN	K	343;253;343	ENSP00000343617:N343K;ENSP00000445624:N253K;ENSP00000446972:N343K	ENSP00000343617:N343K	N	-	3	2	ZNF606	63182831	0.954000	0.32549	1.000000	0.80357	0.996000	0.88848	-0.512000	0.06313	0.751000	0.32900	0.655000	0.94253	AAC	.		0.318	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		T	58491019	G	T	58491019	3	4	24	1	0	0	0	0	1	0	0	0	18080	1252	44	3	1353	3	ZNF606	19	58491019	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	358444	58491019	637964	859	4006											
ZNF274	10782	hgsc.bcm.edu	37	19	58718365	58718365	+	Splice_Site	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:58718365T>C	ENST00000326804.4	+	6	992	c.533T>C	c.(532-534)cTg>cCg	p.L178P	ZNF274_ENST00000345813.3_Splice_Site_p.L146P|ZNF274_ENST00000424679.2_Splice_Site_p.L73P|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	179	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCGGGAGCCCTGGACCAGCTC	0.627																																					.		.											ZNF274,NS,carcinoma,0,1	ZNF274	0	0			.						.						16	19	18					19																	58718365		2203	4298	6501	SO:0001630	splice_region_variant	10782	p.L178P			GAGCCCTGGACCA	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.532-1T>C	19.37:g.58718365T>C		103	1		53	4	.	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37		.	.	.	.	.	.	.	.	.	.	T	11.85	1.763061	0.31228	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.09350	2.99;2.99;2.99	4.46	3.42	0.39159	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.267012	0.20042	N	0.100495	T	0.25568	0.0622	.	.	.	0.49213	D	0.999762	D;D;D	0.69078	0.997;0.997;0.995	P;P;D	0.63192	0.899;0.899;0.912	T	0.00862	-1.1536	9	0.87932	D	0	-6.0561	7.6585	0.28389	0.1888:0.0:0.0:0.8112	.	74;147;179	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	P	178;146;73	ENSP00000321209:L178P;ENSP00000321187:L146P;ENSP00000409872:L73P	ENSP00000321209:L178P	L	+	2	0	ZNF274	63410177	0.001000	0.12720	0.663000	0.29738	0.077000	0.17291	0.637000	0.24659	0.787000	0.33731	0.533000	0.62120	CTG	.		0.627	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502	Missense_Mutation	C	58718365	T	C	58718365	5	2	24	1	0	0	0	0	0	0	1	0	17857	1580	55	4	549	4	ZNF274	19	58718365	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	227346	58718365	410618	860	4007											
SLC27A5	10998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	59009967	59009967	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr19:59009967A>T	ENST00000263093.2	-	10	2097	c.1988T>A	c.(1987-1989)tTt>tAt	p.F663Y	SLC27A5_ENST00000594786.1_Missense_Mutation_p.F68Y|SLC27A5_ENST00000601355.1_Missense_Mutation_p.F579Y|SLC27A5_ENST00000599700.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	663					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)		GTCCAGTACAAACAGAGGGTC	0.602																																					p.F663Y		.											.	.	.	0			c.T1988A						.						156	130	139					19																	59009967		2203	4300	6503	SO:0001583	missense	10998	exon10			AGTACAAACAGAG	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.1988T>A	19.37:g.59009967A>T	ENSP00000263093:p.Phe663Tyr	37	0		25	10	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.507175	0.00984	.	.	ENSG00000083807	ENST00000263093	T	0.48836	0.8	4.85	0.912	0.19349	.	0.192654	0.45361	N	0.000379	T	0.15305	0.0369	N	0.01817	-0.705	0.20074	N	0.999939	B	0.10296	0.003	B	0.12156	0.007	T	0.34675	-0.9819	10	0.02654	T	1	-11.064	8.142	0.31089	0.3907:0.0:0.0:0.6093	.	663	Q9Y2P5	S27A5_HUMAN	Y	663	ENSP00000263093:F663Y	ENSP00000263093:F663Y	F	-	2	0	SLC27A5	63701779	0.367000	0.25023	0.015000	0.15790	0.037000	0.13140	0.646000	0.24797	0.250000	0.21479	0.533000	0.62120	TTT	.		0.602	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		T	59009967	A	T	59009967	3	4	24	1	0	0	0	0	1	0	0	0	14574	14	1	5	88	5	SLC27A5	19	59009967	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	291602	59009967	119016	861	4008											
ADAM33	80332	broad.mit.edu	37	20	3654549	3654549	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:3654549T>C	ENST00000356518.2	-	9	989	c.748A>G	c.(748-750)Act>Gct	p.T250A	ADAM33_ENST00000379861.4_Missense_Mutation_p.T250A|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Missense_Mutation_p.T250A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	250	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						ATGTCCAGAGTCCTGAGAAGC	0.706																																					p.T250A													.	ADAM33	76	0			c.A748G						.						9	11	11					20																	3654549		2161	4209	6370	SO:0001583	missense	80332	exon9			CCAGAGTCCTGAG	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.748A>G	20.37:g.3654549T>C	ENSP00000348912:p.Thr250Ala	17	0		11	7	NM_025220	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.448464	0.26074	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.17054	2.3;2.3;2.3	5.3	4.16	0.48862	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.10252	0.0251	N	0.05510	-0.035	0.32729	N	0.509217	B;B;B;B;B	0.32862	0.387;0.039;0.046;0.033;0.033	B;B;B;B;B	0.39068	0.289;0.035;0.018;0.03;0.03	T	0.14392	-1.0474	9	0.34782	T	0.22	.	7.6245	0.28204	0.3699:0.0:0.0:0.6301	.	250;262;250;250;250	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	A	250	ENSP00000348912:T250A;ENSP00000369190:T250A;ENSP00000322550:T250A	ENSP00000322550:T250A	T	-	1	0	ADAM33	3602549	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	1.204000	0.32296	2.008000	0.58898	0.379000	0.24179	ACT	.		0.706	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		C	3654549	T	C	3654549	3	2	24	1	0	0	0	0	1	0	0	0	250	1667	58	4	1749	4	ADAM33	20	3654549	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09		3654549	59370971	862	4009											
HSPA12B	116835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	3730721	3730721	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:3730721C>A	ENST00000254963.2	+	11	1293	c.1148C>A	c.(1147-1149)gCc>gAc	p.A383D	HSPA12B_ENST00000542646.1_Missense_Mutation_p.A217D	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	383							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CGGCCGGCAGCCTGGGTAGAT	0.637																																					p.A383D		.											.	.	.	0			c.C1148A						.						18	17	18					20																	3730721		2199	4295	6494	SO:0001583	missense	116835	exon11			CGGCAGCCTGGGT	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1148C>A	20.37:g.3730721C>A	ENSP00000254963:p.Ala383Asp	47	0		18	5	NM_052970	D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957103	0.73902	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.11930	2.73;2.73;2.73	5.21	5.21	0.72293	.	0.111349	0.64402	D	0.000014	T	0.26666	0.0652	L	0.47190	1.495	0.80722	D	1	B;D	0.63046	0.097;0.992	B;D	0.64410	0.061;0.925	T	0.01810	-1.1269	10	0.11794	T	0.64	.	16.6243	0.84952	0.0:1.0:0.0:0.0	.	382;383	B7ZLP2;Q96MM6	.;HS12B_HUMAN	D	383;217;297	ENSP00000254963:A383D;ENSP00000441506:A217D;ENSP00000382608:A297D	ENSP00000254963:A383D	A	+	2	0	HSPA12B	3678721	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.419000	0.80179	2.592000	0.87571	0.551000	0.68910	GCC	.		0.637	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		A	3730721	C	A	3730721	3	1	24	1	0	0	0	0	1	0	0	0	7432	739	26	3	1186	3	HSPA12B	20	3730721	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	76172	3730721	59294799	863	4010											
SLC23A2	9962	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	4839936	4839936	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:4839936T>G	ENST00000379333.1	-	16	2111	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	SLC23A2_ENST00000338244.1_Splice_Site_p.P573P|SLC23A2_ENST00000424750.2_Splice_Site_p.P459P	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	573					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						ACCACGTACCTGGGATGGTGT	0.363																																					p.P573P													.	SLC23A2	62	0			c.A1719C						.						148	140	142					20																	4839936		2203	4300	6503	SO:0001630	splice_region_variant	9962	exon16			CGTACCTGGGATG	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.1720+1A>C	20.37:g.4839936T>G		133	0		78	31	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Splice_Site	SNP	ENST00000379333.1	37	CCDS13085.1																																																																																			.		0.363	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		Silent	G	4839936	T	G	4839936	5	3	24	1	0	0	0	0	0	0	1	0	14508	1594	55	4	241	4	SLC23A2	20	4839936	Splice_Site	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	1109215	4839936	58185584	864	4011											
MACROD2	140733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	16025251	16025251	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:16025251C>A	ENST00000310348.4	+	17	1267	c.1267C>A	c.(1267-1269)Cca>Aca	p.P423T	MACROD2_ENST00000378058.3_Missense_Mutation_p.P188T|MACROD2_ENST00000402914.1_Missense_Mutation_p.P188T|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000407045.3_Missense_Mutation_p.P74T			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	423					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)				GGTAAATGACCCAACAGAGAG	0.333																																					p.P188T		.											.	.	.	0			c.C562A						.						94	87	90					20																	16025251		2203	4300	6503	SO:0001583	missense	140733	exon13			AATGACCCAACAG	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.1267C>A	20.37:g.16025251C>A	ENSP00000309809:p.Pro423Thr	105	0		61	19	NM_001033087	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993755	0.54041	.	.	ENSG00000172264	ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T	0.62941	1.36;-0.01;-0.01	5.81	3.84	0.44239	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.27311	N	0.95732	P;B	0.40211	0.707;0.18	B;B	0.43301	0.415;0.03	T	0.51371	-0.8714	8	0.41790	T	0.15	.	12.9883	0.58604	0.293:0.707:0.0:0.0	.	74;423	A1Z1Q3-6;A1Z1Q3	.;MACD2_HUMAN	T	423;188;188;74	ENSP00000309809:P423T;ENSP00000385290:P188T;ENSP00000367297:P188T	ENSP00000309809:P423T	P	+	1	0	MACROD2	15973251	0.931000	0.31567	1.000000	0.80357	0.897000	0.52465	0.672000	0.25187	0.752000	0.32923	0.655000	0.94253	CCA	.		0.333	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		A	16025251	C	A	16025251	3	1	24	1	0	0	0	0	1	0	0	0	9182	623	22	3	1333	3	MACROD2	20	16025251	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	11185315	16025251	47000269	865	4012											
BFSP1	631	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	17475396	17475396	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:17475396A>C	ENST00000377873.3	-	8	1360	c.1321T>G	c.(1321-1323)Ttt>Gtt	p.F441V	BFSP1_ENST00000544874.1_Missense_Mutation_p.F302V|BFSP1_ENST00000377868.2_Missense_Mutation_p.F316V|BFSP1_ENST00000536626.1_Missense_Mutation_p.F302V	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	441	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						AGTTTCCCAAAGCCTTTGCTT	0.498																																					p.F441V		.											.	.	.	0			c.T1321G						.						127	125	126					20																	17475396		2203	4300	6503	SO:0001583	missense	631	exon8			TCCCAAAGCCTTT	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.1321T>G	20.37:g.17475396A>C	ENSP00000367104:p.Phe441Val	27	0		27	15	NM_001195	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944423	0.53079	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.21	5.21	0.72293	.	0.108147	0.64402	D	0.000004	T	0.67458	0.2895	L	0.60455	1.87	0.53688	D	0.999979	D;D	0.76494	0.983;0.999	P;D	0.69142	0.755;0.962	T	0.70784	-0.4778	10	0.72032	D	0.01	-9.0027	13.9173	0.63908	1.0:0.0:0.0:0.0	.	316;441	Q12934-2;Q12934	.;BFSP1_HUMAN	V	441;316;302;302	ENSP00000367104:F441V;ENSP00000367099:F316V;ENSP00000442522:F302V;ENSP00000439870:F302V	ENSP00000367099:F316V	F	-	1	0	BFSP1	17423396	1.000000	0.71417	0.989000	0.46669	0.020000	0.10135	6.819000	0.75262	1.948000	0.56530	0.533000	0.62120	TTT	.		0.498	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		C	17475396	A	C	17475396	3	2	24	1	0	0	0	0	1	0	0	0	1417	72	3	4	680	4	BFSP1	20	17475396	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1450145	17475396	45550124	866	4013											
SNX5	27131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	17928287	17928287	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:17928287A>C	ENST00000377768.3	-	12	1233	c.921T>G	c.(919-921)gaT>gaG	p.D307E	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.D307E	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	307	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						TGTATAAGAGATCCTGGGAAA	0.413																																					p.D307E		.											.	.	.	0			c.T921G						.						60	56	57					20																	17928287		2203	4299	6502	SO:0001583	missense	27131	exon11			TAAGAGATCCTGG	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.921T>G	20.37:g.17928287A>C	ENSP00000366998:p.Asp307Glu	99	0		40	20	NM_014426	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033418	0.54896	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.55760	0.5;0.5	5.31	1.75	0.24633	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.64170	1.965	0.80722	D	1	P;P	0.41597	0.756;0.565	B;P	0.44647	0.401;0.456	T	0.45264	-0.9273	10	0.07175	T	0.84	-9.5112	8.5888	0.33674	0.6794:0.0:0.3206:0.0	.	328;307	B7Z476;Q9Y5X3	.;SNX5_HUMAN	E	307	ENSP00000366998:D307E;ENSP00000366988:D307E	ENSP00000366988:D307E	D	-	3	2	SNX5	17876287	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.375000	0.44283	0.400000	0.25396	0.528000	0.53228	GAT	.		0.413	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			C	17928287	A	C	17928287	3	2	24	1	0	0	0	0	1	0	0	0	14950	330	12	4	305	4	SNX5	20	17928287	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	452891	17928287	45097233	867	4014											
SNX5	27131	hgsc.bcm.edu	37	20	17936035	17936035	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:17936035C>T	ENST00000377768.3	-	4	553	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.E81K	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	81	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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						TCTGTTGTTTCAATAAGAGTG	0.383																																					p.E81K		.											.	.	.	0			c.G241A						.						77	72	74					20																	17936035		2203	4300	6503	SO:0001583	missense	27131	exon3			TTGTTTCAATAAG	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.241G>A	20.37:g.17936035C>T	ENSP00000366998:p.Glu81Lys	38	0		40	4	NM_014426	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833621	0.91036	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000419004	T;T;T	0.38887	1.11;1.11;1.11	5.57	5.57	0.84162	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.66297	2.02	0.80722	D	1	D;B	0.55172	0.97;0.326	P;B	0.59115	0.852;0.276	T	0.62751	-0.6788	10	0.66056	D	0.02	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	102;81	B7Z476;Q9Y5X3	.;SNX5_HUMAN	K	81;81;46	ENSP00000366998:E81K;ENSP00000366988:E81K;ENSP00000406731:E46K	ENSP00000366988:E81K	E	-	1	0	SNX5	17884035	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.818000	0.86416	2.775000	0.95449	0.650000	0.86243	GAA	.		0.383	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			T	17936035	C	T	17936035	3	4	24	1	0	0	0	0	1	0	0	0	14950	835	29	3	1017	3	SNX5	20	17936035	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	7748	17936035	45089485	868	4015											
FOXA2	3170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	22563329	22563329	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:22563329T>G	ENST00000377115.4	-	3	714	c.533A>C	c.(532-534)aAg>aCg	p.K178T	FOXA2_ENST00000419308.2_Missense_Mutation_p.K184T	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	178					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)					CGTCAGCATCTTGTTGGGGCT	0.612																																					p.K184T		.											.	.	.	0			c.A551C						.						133	115	121					20																	22563329		2203	4300	6503	SO:0001583	missense	3170	exon2			AGCATCTTGTTGG	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.533A>C	20.37:g.22563329T>G	ENSP00000366319:p.Lys178Thr	50	0		54	21	NM_021784	Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009805	0.75046	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.96334	-3.98;-3.98;-3.98	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000006	D	0.98651	0.9548	H	0.95982	3.75	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.74023	0.882;0.982	D	0.99675	1.0997	10	0.87932	D	0	.	14.3356	0.66586	0.0:0.0:0.0:1.0	.	178;184	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	T	178;178;184;64	ENSP00000366319:K178T;ENSP00000400341:K178T;ENSP00000315955:K184T	ENSP00000315955:K184T	K	-	2	0	FOXA2	22511329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.971000	0.88012	1.867000	0.54127	0.468000	0.43344	AAG	.		0.612	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			G	22563329	T	G	22563329	3	3	24	1	0	0	0	0	1	0	0	0	6012	1609	56	4	844	4	FOXA2	20	22563329	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4627294	22563329	40462191	869	4016											
GZF1	64412	ucsc.edu	37	20	23345235	23345235	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:23345235G>T	ENST00000338121.5	+	2	292	c.215G>T	c.(214-216)gGt>gTt	p.G72V	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.G72V			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)					AGTGTGGATGGTACTAGGACT	0.453																																					p.G72V													.	GZF1	61	0			c.G215T						.						93	91	92					20																	23345235		2203	4300	6503	SO:0001583	missense	64412	exon1			TGGATGGTACTAG	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.215G>T	20.37:g.23345235G>T	ENSP00000338290:p.Gly72Val	93	0		51	5	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752216	0.31046	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.71698	-0.59;-0.59	5.33	4.39	0.52855	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.225394	0.30859	N	0.008723	T	0.72779	0.3503	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.61201	0.885	T	0.75022	-0.3464	10	0.59425	D	0.04	.	12.8603	0.57910	0.0783:0.0:0.9217:0.0	.	72	Q9H116	GZF1_HUMAN	V	72	ENSP00000338290:G72V;ENSP00000366250:G72V	ENSP00000338290:G72V	G	+	2	0	GZF1	23293235	0.998000	0.40836	0.028000	0.17463	0.004000	0.04260	4.355000	0.59424	1.270000	0.44297	0.650000	0.86243	GGT	.		0.453	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		T	23345235	G	T	23345235	3	4	24	1	0	0	0	0	1	0	0	0	6941	1261	44	3	217	3	GZF1	20	23345235	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	781906	23345235	39680285	870	4017											
GZF1	64412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	23345474	23345474	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:23345474A>G	ENST00000338121.5	+	2	531	c.454A>G	c.(454-456)Agc>Ggc	p.S152G	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S152G			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	152					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)					GGTGGAGGTGAGCAGTGGCTC	0.498																																					p.S152G		.											.	.	.	0			c.A454G						.						62	67	65					20																	23345474		2203	4300	6503	SO:0001583	missense	64412	exon1			GAGGTGAGCAGTG	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.454A>G	20.37:g.23345474A>G	ENSP00000338290:p.Ser152Gly	39	0		17	5	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	1.741	-0.491755	0.04322	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.10477	2.87;2.87	4.62	2.2	0.27929	.	0.265765	0.32533	N	0.005974	T	0.05823	0.0152	N	0.19112	0.55	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.37430	-0.9706	10	0.23891	T	0.37	.	6.4133	0.21702	0.5884:0.0:0.4116:0.0	.	152	Q9H116	GZF1_HUMAN	G	152	ENSP00000338290:S152G;ENSP00000366250:S152G	ENSP00000338290:S152G	S	+	1	0	GZF1	23293474	0.002000	0.14202	0.009000	0.14445	0.026000	0.11368	1.180000	0.32005	0.775000	0.33450	-0.417000	0.06048	AGC	.		0.498	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		G	23345474	A	G	23345474	3	3	24	1	0	0	0	0	1	0	0	0	6941	304	11	4	456	4	GZF1	20	23345474	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	239	23345474	39680046	871	4018											
C20orf3	57136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	24954309	24954309	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:24954309G>A	ENST00000217456.2	-	4	683	c.393C>T	c.(391-393)acC>acT	p.T131T	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Silent_p.T131T	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	131					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)										ACCGGGCAATGGTCTCTATTT	0.443																																					p.T131T		.											.	.	.	0			c.C393T						.						108	94	98					20																	24954309		2203	4300	6503	SO:0001819	synonymous_variant	57136	exon4			GGCAATGGTCTCT	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.393C>T	20.37:g.24954309G>A		69	0		61	21	NM_020531	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Silent	SNP	ENST00000217456.2	37	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	G	8.781	0.928185	0.18131	.	.	ENSG00000101474	ENST00000451442	.	.	.	5.43	-0.777	0.10981	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	-3.085	1.1563	0.01797	0.1745:0.1484:0.2261:0.451	.	.	.	.	L	116	.	.	P	-	2	0	C20orf3	24902309	0.049000	0.20398	0.828000	0.32881	0.813000	0.45954	-0.091000	0.11146	-0.191000	0.10448	-0.137000	0.14449	CCA	.		0.443	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		A	24954309	G	A	24954309	2	1	24	1	0	0	0	0	0	0	0	1	2116	1335	47	3		3	C20orf3	20	24954309	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1608835	24954309	38071211	872	4019											
TTLL9	164395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	30486300	30486300	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:30486300C>G	ENST00000375938.4	+	4	391	c.138C>G	c.(136-138)ttC>ttG	p.F46L	TTLL9_ENST00000535842.1_Missense_Mutation_p.F46L|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000375934.4_Missense_Mutation_p.F28L|RNU1-94P_ENST00000362627.1_RNA|TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000310998.4_5'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	46	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			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)			CGATCCGGTTCAAGACCACCC	0.527																																					p.F46L		.											.	.	.	0			c.C138G						.						110	109	109					20																	30486300		2043	4193	6236	SO:0001583	missense	164395	exon4			CCGGTTCAAGACC	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.138C>G	20.37:g.30486300C>G	ENSP00000365105:p.Phe46Leu	26	0		33	17	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072290	0.76415	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000375935;ENST00000375934	T;T;T	0.10192	3.84;3.84;2.9	5.44	5.44	0.79542	.	0.258505	0.42294	D	0.000722	T	0.26448	0.0646	M	0.92459	3.31	0.80722	D	1	D	0.54207	0.965	B	0.43950	0.437	T	0.34800	-0.9814	10	0.62326	D	0.03	.	14.8279	0.70128	0.0:1.0:0.0:0.0	.	46	Q3SXZ7	TTLL9_HUMAN	L	46;46;28;28	ENSP00000365105:F46L;ENSP00000442515:F46L;ENSP00000365100:F28L	ENSP00000365100:F28L	F	+	3	2	TTLL9	29949961	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.310000	0.59141	2.578000	0.87016	0.558000	0.71614	TTC	.		0.527	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		G	30486300	C	G	30486300	3	3	24	1	0	0	0	0	1	0	0	0	16783	825	29	5	148	5	TTLL9	20	30486300	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5531991	30486300	32539220	873	4020											
PXMP4	11264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	32295759	32295759	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:32295759A>G	ENST00000409299.3	-	4	484	c.392T>C	c.(391-393)tTg>tCg	p.L131S	PXMP4_ENST00000217398.3_Missense_Mutation_p.C138R|PXMP4_ENST00000344022.3_Missense_Mutation_p.C65R	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	131						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GACGCGTGACAACAGGTACAT	0.488																																					p.L131S		.											.	.	.	0			c.T392C						.						50	48	49					20																	32295759		2203	4300	6503	SO:0001583	missense	11264	exon4			CGTGACAACAGGT	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"24 kDa peroxisomal intrinsic membrane protein"		"peroxisomal membrane protein 4 (24kD)"			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.392T>C	20.37:g.32295759A>G	ENSP00000386385:p.Leu131Ser	39	0		36	16	NM_007238	A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	CCDS13225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	10.88|10.88	1.476755|1.476755	0.26511|0.26511	.|.	.|.	ENSG00000101417|ENSG00000101417	ENST00000344022;ENST00000217398|ENST00000409299	.|T	.|0.29655	.|1.56	5.93|5.93	2.23|2.23	0.28157|0.28157	.|.	.|0.465348	.|0.22770	.|N	.|0.055845	T|T	0.39462|0.39462	0.1079|0.1079	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|P	0.11235|0.48589	0.004;0.001|0.912	B;B|P	0.09377|0.55303	0.004;0.002|0.773	T|T	0.14924|0.14924	-1.0455|-1.0455	7|9	0.62326|0.45353	D|T	0.03|0.12	-4.8709|-4.8709	7.3291|7.3291	0.26571|0.26571	0.6301:0.0:0.3699:0.0|0.6301:0.0:0.3699:0.0	.|.	138;65|131	B4DWH1;A2A2I7|Q9Y6I8	.;.|PXMP4_HUMAN	R|S	65;138|131	.|ENSP00000386385:L131S	ENSP00000217398:C138R|ENSP00000386385:L131S	C|L	-|-	1|2	0|0	PXMP4|PXMP4	31759420|31759420	0.939000|0.939000	0.31865|0.31865	0.000000|0.000000	0.03702|0.03702	0.557000|0.557000	0.35523|0.35523	3.714000|3.714000	0.54889|0.54889	0.136000|0.136000	0.18733|0.18733	0.519000|0.519000	0.50382|0.50382	TGT|TTG	.		0.488	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		G	32295759	A	G	32295759	3	3	24	1	0	0	0	0	1	0	0	0	12896	131	5	4	250	4	PXMP4	20	32295759	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1809459	32295759	30729761	874	4021											
EDEM2	55741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	33722567	33722567	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:33722567A>G	ENST00000374492.3	-	6	781	c.676T>C	c.(676-678)Tgg>Cgg	p.W226R	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.W189R|EDEM2_ENST00000540582.1_Missense_Mutation_p.W185R	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	226					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)			CGGCTCTCCCAGAGGCGCATC	0.577																																					p.W226R	Esophageal Squamous(51;906 1021 24535 36410 39145)	.											.	.	.	0			c.T676C						.						79	73	75					20																	33722567		2203	4300	6503	SO:0001583	missense	55741	exon6			TCTCCCAGAGGCG	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.676T>C	20.37:g.33722567A>G	ENSP00000363616:p.Trp226Arg	28	0		29	13	NM_018217	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839954	0.91117	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.72051	-0.62;-0.62;-0.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	M	0.68728	2.09	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.72625	0.975;0.963;0.978	D	0.84551	0.0644	10	0.87932	D	0	-10.4425	16.5764	0.84681	1.0:0.0:0.0:0.0	.	185;189;226	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	R	189;226;185	ENSP00000363615:W189R;ENSP00000363616:W226R;ENSP00000441548:W185R	ENSP00000363615:W189R	W	-	1	0	EDEM2	33186228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.056000	0.93881	2.371000	0.80710	0.533000	0.62120	TGG	.		0.577	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		G	33722567	A	G	33722567	3	3	24	1	0	0	0	0	1	0	0	0	4926	188	7	4	1084	4	EDEM2	20	33722567	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1426808	33722567	29302953	875	4022	41	2									
EDEM2	55741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	33722569	33722569	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:33722569A>G	ENST00000374492.3	-	6	779	c.674T>C	c.(673-675)cTc>cCc	p.L225P	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.L188P|EDEM2_ENST00000540582.1_Missense_Mutation_p.L184P	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	225					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)			GCTCTCCCAGAGGCGCATCAA	0.577																																					p.L225P	Esophageal Squamous(51;906 1021 24535 36410 39145)	.											.	.	.	0			c.T674C						.						80	73	75					20																	33722569		2203	4300	6503	SO:0001583	missense	55741	exon6			TCCCAGAGGCGCA	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.674T>C	20.37:g.33722569A>G	ENSP00000363616:p.Leu225Pro	28	0		28	12	NM_018217	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.933915	0.92458	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.57752	0.38;0.38;0.38	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.88914	0.3361	10	0.87932	D	0	-20.9402	16.5764	0.84681	1.0:0.0:0.0:0.0	.	184;188;225	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	P	188;225;184	ENSP00000363615:L188P;ENSP00000363616:L225P;ENSP00000441548:L184P	ENSP00000363615:L188P	L	-	2	0	EDEM2	33186230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.056000	0.93881	2.371000	0.80710	0.533000	0.62120	CTC	.		0.577	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		G	33722569	A	G	33722569	3	3	24	1	0	0	0	0	1	0	0	0	4926	304	11	4	1086	4	EDEM2	20	33722569	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2	33722569	29302951	876	4023	41	2									
SPAG4	6676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	34205495	34205495	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:34205495G>T	ENST00000374273.3	+	3	575	c.463G>T	c.(463-465)Gtc>Ttc	p.V155F	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	155					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)			AGACGTGCTGGTCAGCATGTA	0.657																																					p.V155F		.											.	.	.	0			c.G463T						.						30	28	29					20																	34205495		2203	4300	6503	SO:0001583	missense	6676	exon3			GTGCTGGTCAGCA	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.463G>T	20.37:g.34205495G>T	ENSP00000363391:p.Val155Phe	48	0		22	10	NM_003116	O43648	Missense_Mutation	SNP	ENST00000374273.3	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619419	0.46736	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.14144	2.53;2.53	4.5	1.38	0.22167	.	0.354583	0.23945	N	0.043018	T	0.10680	0.0261	M	0.70595	2.14	0.37612	D	0.920952	B;P	0.39216	0.437;0.664	B;B	0.30572	0.117;0.117	T	0.25779	-1.0122	10	0.12766	T	0.61	-7.5926	6.6696	0.23060	0.0954:0.3371:0.5675:0.0	.	30;155	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	F	155;30	ENSP00000363391:V155F;ENSP00000396670:V30F	ENSP00000363391:V155F	V	+	1	0	SPAG4	33668909	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	0.466000	0.22019	0.369000	0.24510	0.561000	0.74099	GTC	.		0.657	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		T	34205495	G	T	34205495	3	4	24	1	0	0	0	0	1	0	0	0	15027	1261	44	3	473	3	SPAG4	20	34205495	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	482926	34205495	28820025	877	4024											
ROMO1	140823	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	34287659	34287659	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:34287659G>A	ENST00000374078.1	+	2	285	c.105G>A	c.(103-105)gcG>gcA	p.A35A	NFS1_ENST00000397425.1_5'Flank|ROMO1_ENST00000336695.4_Silent_p.A35A|NFS1_ENST00000374092.4_5'Flank|NFS1_ENST00000541387.1_5'Flank|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000374072.1_Silent_p.A35A|ROMO1_ENST00000397416.1_Silent_p.A35A|NFS1_ENST00000306750.3_5'Flank|ROMO1_ENST00000374077.3_Silent_p.A35A|NFS1_ENST00000540053.1_5'Flank	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	35					cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				cervix(1)	1						CGGCCGGGGCGCTCTTCGGCA	0.672											OREG0004048	type=REGULATORY REGION|Gene=NFS1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.A35A		.											.	.	.	0			c.G105A						.						84	89	88					20																	34287659		2203	4299	6502	SO:0001819	synonymous_variant	140823	exon2			CGGGGCGCTCTTC	AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"mitochondrial targeting GXXXG protein"		"chromosome 20 open reading frame 52"	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.105G>A	20.37:g.34287659G>A		83	0	846	58	25	NM_080748	A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Silent	SNP	ENST00000374078.1	37	CCDS13264.1																																																																																			.		0.672	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	NM_080748		A	34287659	G	A	34287659	2	1	24	1	0	0	0	0	0	0	0	1	13567	1074	38	1		1	ROMO1	20	34287659	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	82164	34287659	28737861	878	4025											
C20orf152	140894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	34568459	34568459	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:34568459T>A	ENST00000373973.3	+	4	495	c.322T>A	c.(322-324)Tgt>Agt	p.C108S	CNBD2_ENST00000349339.1_Missense_Mutation_p.C108S|CNBD2_ENST00000538900.1_Missense_Mutation_p.C108S			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	108																	CCAGGCCGTCTGTAACATCTT	0.552																																					p.C108S		.											.	.	.	0			c.T322A						.						106	87	93					20																	34568459		2203	4300	6503	SO:0001583	missense	140894	exon4			GCCGTCTGTAACA	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.322T>A	20.37:g.34568459T>A	ENSP00000363084:p.Cys108Ser	50	0		45	22	NM_080834	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	T	15.63	2.890669	0.52014	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.83755	-1.76;-1.76;-1.76	5.15	4.04	0.47022	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.152029	0.46758	D	0.000274	D	0.85695	0.5756	M	0.66939	2.045	0.31495	N	0.665472	D;D	0.62365	0.988;0.991	P;P	0.59595	0.709;0.86	T	0.83263	-0.0047	10	0.33940	T	0.23	-10.3153	6.7961	0.23727	0.0:0.1828:0.0:0.8172	.	108;108	Q96M20;Q96M20-2	CT152_HUMAN;.	S	108	ENSP00000363084:C108S;ENSP00000340954:C108S;ENSP00000442729:C108S	ENSP00000340954:C108S	C	+	1	0	C20orf152	34031873	0.215000	0.23574	0.225000	0.23894	0.004000	0.04260	0.724000	0.25954	0.799000	0.34018	-0.290000	0.09829	TGT	.		0.552	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		A	34568459	T	A	34568459	3	1	24	1	0	0	0	0	1	0	0	0	2099	1580	55	5	336	5	C20orf152	20	34568459	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	280800	34568459	28457061	879	4026											
RPRD1B	58490	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	36694651	36694651	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:36694651A>C	ENST00000373433.4	+	6	1226	c.824A>C	c.(823-825)aAa>aCa	p.K275T		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	275					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						AAGGAGAAAAAACTAGAGGTG	0.488																																					p.K275T		.											.	.	.	0			c.A824C						.						68	77	74					20																	36694651		2203	4300	6503	SO:0001583	missense	58490	exon6			AGAAAAAACTAGA	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.824A>C	20.37:g.36694651A>C	ENSP00000362532:p.Lys275Thr	48	0		30	10	NM_021215	Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754525	0.69648	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.040629	0.85682	D	0.000000	T	0.52419	0.1733	L	0.55743	1.74	0.80722	D	1	P	0.39883	0.693	B	0.36378	0.223	T	0.55140	-0.8187	9	0.39692	T	0.17	-16.7168	14.958	0.71131	1.0:0.0:0.0:0.0	.	275	Q9NQG5	RPR1B_HUMAN	T	275;157	.	ENSP00000362532:K275T	K	+	2	0	RPRD1B	36128065	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.310000	0.78947	2.371000	0.80710	0.533000	0.62120	AAA	.		0.488	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		C	36694651	A	C	36694651	3	2	24	1	0	0	0	0	1	0	0	0	13661	14	1	4	846	4	RPRD1B	20	36694651	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2126192	36694651	26330869	880	4027											
RALGAPB	57148	broad.mit.edu	37	20	37117260	37117260	+	Splice_Site	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:37117260A>C	ENST00000262879.6	+	2	469	c.185A>C	c.(184-186)gAa>gCa	p.E62A	RALGAPB_ENST00000397040.1_Splice_Site_p.E62A|RALGAPB_ENST00000397042.3_Splice_Site_p.E62A|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Splice_Site_p.E62A			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	62					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTGACAAAGAAGTAAGTGTT	0.353																																					p.E62A													.	RALGAPB	134	0			c.A185C						.						108	103	105					20																	37117260		2203	4300	6503	SO:0001630	splice_region_variant	57148	exon2			ACAAAGAAGTAAG	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.186+1A>C	20.37:g.37117260A>C		46	0		17	4	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Splice_Site	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.868576	0.91587	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	5.68	5.68	0.88126	.	0.047041	0.85682	D	0.000000	T	0.78886	0.4354	M	0.73962	2.25	0.80722	D	1	B;D;D;D	0.56035	0.008;0.974;0.974;0.974	B;D;D;D	0.70487	0.034;0.969;0.969;0.969	T	0.80752	-0.1242	9	0.62326	D	0.03	.	16.2322	0.82352	1.0:0.0:0.0:0.0	.	62;62;62;62	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	A	62	.	ENSP00000262879:E62A	E	+	2	0	RALGAPB	36550674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.826000	0.92034	2.288000	0.76882	0.528000	0.53228	GAA	.		0.353	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	Missense_Mutation	C	37117260	A	C	37117260	5	2	24	1	0	0	0	0	0	0	1	0	13060	260	9	4	187	4	RALGAPB	20	37117260	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	422609	37117260	25908260	881	4028											
ZSWIM3	140831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	44506452	44506452	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:44506452T>G	ENST00000255152.2	+	2	1464	c.1255T>G	c.(1255-1257)Ttt>Gtt	p.F419V	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.F413V	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	419							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)				CATCCTCTGCTTTGTGGATTA	0.502																																					p.F419V		.											.	.	.	0			c.T1255G						.						75	65	68					20																	44506452		2203	4300	6503	SO:0001583	missense	140831	exon2			CTCTGCTTTGTGG	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.1255T>G	20.37:g.44506452T>G	ENSP00000255152:p.Phe419Val	47	0		26	10	NM_080752	Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387138	0.61956	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.27104	1.73;1.69	5.41	4.3	0.51218	.	0.174502	0.41194	D	0.000923	T	0.22044	0.0531	L	0.32530	0.975	0.36228	D	0.852477	P;P	0.46395	0.877;0.799	B;B	0.43360	0.417;0.115	T	0.17410	-1.0370	10	0.49607	T	0.09	-13.0007	10.9175	0.47146	0.0:0.0736:0.0:0.9264	.	413;419	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	V	419;413	ENSP00000255152:F419V;ENSP00000406313:F413V	ENSP00000255152:F419V	F	+	1	0	ZSWIM3	43939859	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	2.455000	0.44988	1.077000	0.40990	0.533000	0.62120	TTT	.		0.502	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		G	44506452	T	G	44506452	3	3	24	1	0	0	0	0	1	0	0	0	18290	1609	56	4	1261	4	ZSWIM3	20	44506452	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7389192	44506452	18519068	882	4029											
MMP9	4318	broad.mit.edu;bcgsc.ca	37	20	44643002	44643008	+	Splice_Site	DEL	GCCCGCA	GCCCGCA	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:44643002_44643008delGCCCGCA	ENST00000372330.3	+	12	1920		c.e12-1		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)						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)	CTCCGCGCCTGCCCGCAGGTTCGACGT	0.729											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.													.	MMP9	84	0			.						.																																			SO:0001630	splice_region_variant	4318	.			GCGCCTGCCCGCA		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.1902-1GCCCGCA>-	20.37:g.44643002_44643008delGCCCGCA		43	0	925	28	7	.	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Splice_Site	DEL	ENST00000372330.3	37	CCDS13390.1																																																																																			.		0.729	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		Intron	-	44643008	GCCCGCA	-	44643002	8	5	24	1	0	1	0	1	0	0	1	0	9707	1334	46	0		0	MMP9	20	44643002	Splice_Site	DEL	GCCCGCA	TCGA-W5-AA39-01A-11D-A417-09	136550	44643002	18382518	883	4030											
SLMO2	51012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	57611616	57611616	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:57611616T>C	ENST00000355937.4	-	5	553	c.375A>G	c.(373-375)acA>acG	p.T125T	SLMO2_ENST00000371033.5_Silent_p.T95T	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	125	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)	p.T125T(1)		endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TGGCTTCTTGTGTCAAAACAG	0.383																																					p.T125T		.											SLMO2,NS,carcinoma,0,1	SLMO2	0	1	Substitution - coding silent(1)	lung(1)	c.A375G						.						107	96	99					20																	57611616		1879	4111	5990	SO:0001819	synonymous_variant	51012	exon5			TTCTTGTGTCAAA	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 45"	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.375A>G	20.37:g.57611616T>C		75	0		44	23	NM_016045	E1P5I8|Q5JX17|Q9NUL0	Silent	SNP	ENST00000355937.4	37	CCDS42893.1																																																																																			.		0.383	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		C	57611616	T	C	57611616	2	2	24	1	0	0	0	0	0	0	0	1	14796	1683	59	4		4	SLMO2	20	57611616	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	12968614	57611616	5413904	884	4031											
SYCP2	10388	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	58470491	58470491	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:58470491C>T	ENST00000357552.3	-	20	1891		c.e20+1		SYCP2_ENST00000371001.2_Splice_Site			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						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)			GGTAAAGTTACTTTGTCTATA	0.313																																					.		.											.	.	.	0			c.1665+1G>A						.						130	125	127					20																	58470491		2203	4300	6503	SO:0001630	splice_region_variant	10388	exon20			AAGTTACTTTGTC	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.1665+1G>A	20.37:g.58470491C>T		51	0		41	15	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042142	0.35989	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2307	0.54486	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYCP2	57903886	0.989000	0.36119	1.000000	0.80357	0.459000	0.32528	2.344000	0.44010	2.579000	0.87056	0.585000	0.79938	.	.		0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	Intron	T	58470491	C	T	58470491	5	4	24	1	0	0	0	0	0	0	1	0	15479	579	20	3	3030	3	SYCP2	20	58470491	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	858875	58470491	4555029	885	4032											
COL20A1	57642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	61926534	61926534	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr20:61926534A>C	ENST00000358894.6	+	2	175	c.75A>C	c.(73-75)caA>caC	p.Q25H	COL20A1_ENST00000435874.1_Missense_Mutation_p.Q25H|COL20A1_ENST00000422202.1_Missense_Mutation_p.Q25H|COL20A1_ENST00000326996.6_Missense_Mutation_p.Q25H	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	25					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)					GAAGAGAGCAAGTTCAAGGTA	0.701																																					p.Q25H		.											.	.	.	0			c.A75C						.						15	19	18					20																	61926534		1985	4069	6054	SO:0001583	missense	57642	exon2			AGAGCAAGTTCAA	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.75A>C	20.37:g.61926534A>C	ENSP00000351767:p.Gln25His	96	0		68	23	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580267	0.28180	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.88664	-2.35;-2.39;-2.41;-2.41	2.84	0.725	0.18242	Fibronectin, type III (2);	1.456920	0.04712	U	0.417852	T	0.78304	0.4262	N	0.24115	0.695	0.09310	N	1	P	0.43352	0.804	B	0.34652	0.187	T	0.68062	-0.5508	10	0.28530	T	0.3	.	5.3092	0.15821	0.324:0.0:0.676:0.0	.	25	Q9P218	COKA1_HUMAN	H	25	ENSP00000351767:Q25H;ENSP00000323077:Q25H;ENSP00000408690:Q25H;ENSP00000414753:Q25H	ENSP00000323077:Q25H	Q	+	3	2	COL20A1	61396979	0.005000	0.15991	0.080000	0.20451	0.017000	0.09413	0.052000	0.14163	0.051000	0.15978	0.260000	0.18958	CAA	.		0.701	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		C	61926534	A	C	61926534	3	2	24	1	0	0	0	0	1	0	0	0	3686	69	3	4	77	4	COL20A1	20	61926534	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	3456043	61926534	1098986	886	4033											
BTG3	10950	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	18966436	18966436	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr21:18966436T>G	ENST00000348354.6	-	5	990	c.734A>C	c.(733-735)aAt>aCt	p.N245T	BTG3_ENST00000339775.6_Missense_Mutation_p.N289T	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	245					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CATGTGAGGATTAATCCAGTG	0.388																																					p.N289T													.	BTG3	27	0			c.A866C						.						105	85	92					21																	18966436		2203	4299	6502	SO:0001583	missense	10950	exon6			TGAGGATTAATCC	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.734A>C	21.37:g.18966436T>G	ENSP00000284879:p.Asn245Thr	91	0		36	23	NM_001130914	D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.911072	0.52439	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	3.88	2.7	0.31948	.	0.308672	0.26915	N	0.021850	T	0.26629	0.0651	N	0.19112	0.55	0.23243	N	0.998057	P;B	0.52316	0.952;0.0	P;B	0.47402	0.546;0.0	T	0.06862	-1.0803	9	0.66056	D	0.02	-15.2504	7.3894	0.26901	0.0:0.0:0.2226:0.7774	.	289;245	Q14201-2;Q14201	.;BTG3_HUMAN	T	289;245	.	ENSP00000344609:N289T	N	-	2	0	BTG3	17888307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.421000	0.52742	0.824000	0.34613	0.482000	0.46254	AAT	.		0.388	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		G	18966436	T	G	18966436	3	3	24	1	0	0	0	0	1	0	0	0	1559	1493	52	4	28	4	BTG3	21	18966436	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09		18966436	29163459	887	4034											
ADAMTS5	11096	hgsc.bcm.edu	37	21	28296852	28296852	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr21:28296852G>T	ENST00000284987.5	-	8	2434	c.2313C>A	c.(2311-2313)ttC>ttA	p.F771L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	771	Spacer.				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)	p.F771L(1)		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						AATAGGCAGTGAATCTAGTCT	0.428																																					p.F771L	Esophageal Squamous(53;683 1080 10100 14424 45938)	.											ADAMTS5,NS,carcinoma,0,1	ADAMTS5	0	1	Substitution - Missense(1)	kidney(1)	c.C2313A						.						163	162	162					21																	28296852		2203	4300	6503	SO:0001583	missense	11096	exon8			GGCAGTGAATCTA	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.2313C>A	21.37:g.28296852G>T	ENSP00000284987:p.Phe771Leu	97	0		21	2	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023651	0.54683	.	.	ENSG00000154736	ENST00000284987	T	0.61980	0.06	5.93	5.0	0.66597	ADAM-TS Spacer 1 (1);	0.152162	0.64402	D	0.000010	T	0.47619	0.1455	N	0.22421	0.69	0.45194	D	0.998203	B	0.29552	0.248	B	0.30179	0.112	T	0.46816	-0.9164	10	0.45353	T	0.12	.	11.7861	0.52043	0.0676:0.1241:0.8083:0.0	.	771	Q9UNA0	ATS5_HUMAN	L	771	ENSP00000284987:F771L	ENSP00000284987:F771L	F	-	3	2	ADAMTS5	27218723	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.247000	0.65416	2.826000	0.97356	0.655000	0.94253	TTC	.		0.428	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			T	28296852	G	T	28296852	3	4	24	1	0	0	0	0	1	0	0	0	269	1281	45	3	483	3	ADAMTS5	21	28296852	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	9330416	28296852	19833043	888	4035											
BRWD1	54014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	40665822	40665822	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr21:40665822T>C	ENST00000333229.2	-	8	1073	c.746A>G	c.(745-747)gAt>gGt	p.D249G	BRWD1_ENST00000342449.3_Missense_Mutation_p.D249G|BRWD1_ENST00000380800.3_Missense_Mutation_p.D249G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	249					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)				AATAATTTTATCACAGCTCCC	0.408																																					p.D249G	Melanoma(170;988 1986 4794 16843 39731)	.											.	.	.	0			c.A746G						.						115	107	110					21																	40665822		2203	4300	6503	SO:0001583	missense	54014	exon8			ATTTTATCACAGC	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.746A>G	21.37:g.40665822T>C	ENSP00000330753:p.Asp249Gly	71	0		18	16	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658017	0.88154	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	D;D;D	0.89270	-2.49;-2.49;-2.49	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076280	0.53938	D	0.000044	D	0.95268	0.8465	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.96189	0.9136	10	0.87932	D	0	-13.5988	14.7747	0.69724	0.0:0.0:0.0:1.0	.	249;249	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	G	249	ENSP00000330753:D249G;ENSP00000344333:D249G;ENSP00000370178:D249G	ENSP00000330753:D249G	D	-	2	0	BRWD1	39587692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.903000	0.87398	1.890000	0.54733	0.533000	0.62120	GAT	.		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40665822	T	C	40665822	3	2	24	1	0	0	0	0	1	0	0	0	1529	1435	50	4	6595	4	BRWD1	21	40665822	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	12368970	40665822	7464073	889	4036											
C2CD2	25966	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	21	43327893	43327893	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr21:43327893C>T	ENST00000380486.3	-	9	1260	c.1019G>A	c.(1018-1020)gGt>gAt	p.G340D	C2CD2_ENST00000329623.7_Splice_Site_p.G185D	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	340	C2.					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						CGCCAGCAGACCTGAAAAGAT	0.622																																					p.G340D		.											.	.	.	0			c.G1019A						.						32	36	35					21																	43327893		2203	4300	6503	SO:0001630	splice_region_variant	25966	exon9			AGCAGACCTGAAA	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.1019-1G>A	21.37:g.43327893C>T		80	0		27	4	NM_015500	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	9.968	1.224585	0.22457	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.66280	-0.2;-0.2	5.51	4.63	0.57726	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.752570	0.12879	N	0.431590	T	0.54951	0.1890	L	0.50333	1.59	0.44719	D	0.99771	B;B	0.24768	0.111;0.028	B;B	0.26094	0.066;0.039	T	0.43669	-0.9377	10	0.08179	T	0.78	.	13.4264	0.61028	0.0:0.8096:0.1904:0.0	.	185;340	Q6P6D1;Q9Y426	.;CU025_HUMAN	D	185;340	ENSP00000329302:G185D;ENSP00000369853:G340D	ENSP00000329302:G185D	G	-	2	0	C2CD2	42200962	0.608000	0.26966	0.485000	0.27403	0.199000	0.23934	0.894000	0.28350	1.337000	0.45525	0.650000	0.86243	GGT	.		0.622	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500	Missense_Mutation	T	43327893	C	T	43327893	5	4	24	1	0	0	0	0	0	0	1	0	2159	521	18	3	1095	3	C2CD2	21	43327893	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2662071	43327893	4802002	890	4037											
ZNF295	49854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	43412457	43412457	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr21:43412457C>G	ENST00000310826.5	-	3	1931	c.1748G>C	c.(1747-1749)aGg>aCg	p.R583T	ZBTB21_ENST00000398511.3_Missense_Mutation_p.R583T|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R583T|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	583					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)										GGTGTGAAACCTCTTGTGACA	0.453																																					p.R583T		.											.	.	.	0			c.G1748C						.						154	150	151					21																	43412457		2203	4300	6503	SO:0001583	missense	49854	exon3			TGAAACCTCTTGT	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.1748G>C	21.37:g.43412457C>G	ENSP00000308759:p.Arg583Thr	47	0		10	9	NM_001098402	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944955	0.53079	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.14516	2.5;2.5;2.5	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	N	0.25647	0.755	0.50813	D	0.999894	D	0.89917	1.0	D	0.91635	0.999	T	0.01290	-1.1394	10	0.02654	T	1	-14.5011	19.7842	0.96430	0.0:1.0:0.0:0.0	.	583	Q9ULJ3	ZN295_HUMAN	T	583	ENSP00000308759:R583T;ENSP00000381512:R583T;ENSP00000381523:R583T	ENSP00000308759:R583T	R	-	2	0	ZNF295	42285526	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	7.289000	0.78701	2.676000	0.91093	0.591000	0.81541	AGG	.		0.453	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		G	43412457	C	G	43412457	3	3	24	1	0	0	0	0	1	0	0	0	17875	681	24	5	1456	5	ZNF295	21	43412457	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	84564	43412457	4717438	891	4038											
SIK1	150094	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	44845977	44845977	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr21:44845977C>G	ENST00000270162.6	-	2	214	c.82G>C	c.(82-84)Gac>Cac	p.D28H		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CGCTCGATGTCGTAAAAACCC	0.677																																					p.D28H		.											.	.	.	0			c.G82C						.						22	24	23					21																	44845977		2199	4295	6494	SO:0001583	missense	150094	exon2			CGATGTCGTAAAA	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.82G>C	21.37:g.44845977C>G	ENSP00000270162:p.Asp28His	82	0		44	31	NM_173354	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053041	0.93793	.	.	ENSG00000142178	ENST00000270162	T	0.65178	-0.14	3.7	3.7	0.42460	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059368	0.64402	D	0.000003	T	0.67040	0.2851	N	0.20881	0.62	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.72953	-0.4135	10	0.72032	D	0.01	.	15.5171	0.75833	0.0:1.0:0.0:0.0	.	28	P57059	SIK1_HUMAN	H	28	ENSP00000270162:D28H	ENSP00000270162:D28H	D	-	1	0	SIK1	43670405	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	7.297000	0.78799	1.611000	0.50210	0.558000	0.71614	GAC	.		0.677	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		G	44845977	C	G	44845977	3	3	24	1	0	0	0	0	1	0	0	0	14362	884	31	5	2321	5	SIK1	21	44845977	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1433520	44845977	3283918	892	4039											
PFKL	5211	broad.mit.edu;bcgsc.ca	37	21	45746699	45746699	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr21:45746699T>G	ENST00000349048.4	+	22	2352	c.2297T>G	c.(2296-2298)cTg>cGg	p.L766R	AP001062.8_ENST00000422357.1_RNA|PFKL_ENST00000403390.1_Missense_Mutation_p.L813R	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	766	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCAGGGGAGCTGGAGCACGTG	0.672																																					p.L766R													.	PFKL	65	0			c.T2297G						.						32	28	30					21																	45746699		2194	4295	6489	SO:0001583	missense	5211	exon22			GGGAGCTGGAGCA		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.2297T>G	21.37:g.45746699T>G	ENSP00000269848:p.Leu766Arg	94	3		23	17	NM_002626	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475584	0.43942	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.83755	-1.69;-1.76	3.86	3.86	0.44501	.	0.124769	0.53938	U	0.000058	D	0.86986	0.6065	L	0.52905	1.665	0.41152	D	0.986039	B;D	0.56035	0.09;0.974	B;D	0.63488	0.069;0.915	D	0.87744	0.2587	10	0.66056	D	0.02	-17.672	11.6617	0.51349	0.0:0.0:0.0:1.0	.	766;813	P17858;P17858-2	K6PL_HUMAN;.	R	766;559;813	ENSP00000269848:L766R;ENSP00000384038:L813R	ENSP00000269848:L766R	L	+	2	0	PFKL	44571127	1.000000	0.71417	0.998000	0.56505	0.476000	0.33039	7.604000	0.82830	1.381000	0.46364	0.383000	0.25322	CTG	.		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			G	45746699	T	G	45746699	3	3	24	1	0	0	0	0	1	0	0	0	11803	1580	55	4	2383	4	PFKL	21	45746699	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	900722	45746699	2383196	893	4040											
MICAL3	57553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	18379580	18379580	+	Silent	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:18379580A>C	ENST00000441493.2	-	8	1468	c.1116T>G	c.(1114-1116)acT>acG	p.T372T	MICAL3_ENST00000207726.7_Silent_p.T372T|MICAL3_ENST00000414725.2_Silent_p.T372T|MICAL3_ENST00000585038.1_Silent_p.T372T|MICAL3_ENST00000444520.1_Silent_p.T372T|MICAL3_ENST00000383094.3_Silent_p.T372T|MICAL3_ENST00000429452.1_Silent_p.T372T|MICAL3_ENST00000400561.2_Silent_p.T372T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	372	Monooxygenase domain. {ECO:0000250}.				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)		CATACATACAAGTGAAGTCAA	0.577											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T372T		.											.	.	.	0			c.T1116G						.						73	66	68					22																	18379580		1568	3582	5150	SO:0001819	synonymous_variant	57553	exon8			CATACAAGTGAAG	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.1116T>G	22.37:g.18379580A>C		26	0	725	11	5	NM_015241	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																			.		0.577	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			C	18379580	A	C	18379580	2	2	24	1	0	0	0	0	0	0	0	1	9609	59	3	4		4	MICAL3	22	18379580	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09		18379580	32924986	894	4041											
HIRA	7290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	19344493	19344493	+	Silent	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:19344493G>A	ENST00000263208.5	-	19	2572	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L	HIRA_ENST00000546308.1_Silent_p.L728L|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Silent_p.L728L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	772	Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.|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)					GGGATGGCAGGAGGATGGGAG	0.587																																					p.L772L		.											.	.	.	0			c.C2316T						.						281	217	239					22																	19344493		2203	4300	6503	SO:0001819	synonymous_variant	7290	exon19			TGGCAGGAGGATG	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.2316C>T	22.37:g.19344493G>A		20	0		12	8	NM_003325	Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	CCDS13759.1																																																																																			.		0.587	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		A	19344493	G	A	19344493	2	1	24	1	0	0	0	0	0	0	0	1	7147	1161	41	3		3	HIRA	22	19344493	Silent	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	964913	19344493	31960073	895	4042											
HIRA	7290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	19373053	19373053	+	Silent	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:19373053A>G	ENST00000263208.5	-	12	1576	c.1320T>C	c.(1318-1320)gaT>gaC	p.D440D	HIRA_ENST00000546308.1_Silent_p.D396D|HIRA_ENST00000340170.4_Silent_p.D440D|HIRA_ENST00000541063.1_Silent_p.D396D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	440	Interaction with ASF1A.|Interaction with CCNA1.|Required for repression of histone gene transcription.				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)					CCTTCCTGATATCTTCAAGAC	0.597																																					p.D440D		.											.	.	.	0			c.T1320C						.						79	72	74					22																	19373053		2203	4300	6503	SO:0001819	synonymous_variant	7290	exon12			CCTGATATCTTCA	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.1320T>C	22.37:g.19373053A>G		26	0		20	10	NM_003325	Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	CCDS13759.1																																																																																			.		0.597	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		G	19373053	A	G	19373053	2	3	24	1	0	0	0	0	0	0	0	1	7147	446	16	4		4	HIRA	22	19373053	Silent	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	28560	19373053	31931513	896	4043											
RIMBP3	85376	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	20458094	20458094	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:20458094C>G	ENST00000426804.1	-	1	3692	c.3208G>C	c.(3208-3210)Gga>Cga	p.G1070R	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1070	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									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)			GACATAGTTCCCCAATACACC	0.662																																					p.G1070R		.											.	.	.	0			c.G3208C						.						68	88	81					22																	20458094		2115	4241	6356	SO:0001583	missense	85376	exon1			TAGTTCCCCAATA	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.3208G>C	22.37:g.20458094C>G	ENSP00000391564:p.Gly1070Arg	283	0		177	31	NM_015672	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235036	0.22626	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.60797	0.16	3.56	1.23	0.21249	Fibronectin, type III (1);	0.226733	0.35555	N	0.003129	T	0.34513	0.0900	N	0.22421	0.69	0.09310	N	1	B	0.32160	0.358	B	0.26517	0.07	T	0.23226	-1.0194	10	0.59425	D	0.04	-3.7359	5.0801	0.14651	0.0:0.5265:0.3451:0.1284	.	976	Q9UFD9	RIM3A_HUMAN	R	976;1070	ENSP00000391564:G1070R	ENSP00000347318:G976R	G	-	1	0	RIMBP3	18838094	0.003000	0.15002	0.388000	0.26195	0.483000	0.33249	0.495000	0.22483	0.841000	0.35020	0.398000	0.26397	GGA	.		0.662	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		G	20458094	C	G	20458094	3	3	24	1	0	0	0	0	1	0	0	0	13409	632	22	5	1715	5	RIMBP3	22	20458094	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1085041	20458094	30846472	897	4044											
ZNF74	7625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	20760929	20760929	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:20760929G>A	ENST00000400451.2	+	5	2120	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.A504T|ZNF74_ENST00000356671.5_Missense_Mutation_p.A536T|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	536					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)			GTGCGGCAGAGCCTTCAGCCA	0.547																																					p.A536T		.											.	.	.	0			c.G1606A						.						73	82	79					22																	20760929		2203	4300	6503	SO:0001583	missense	7625	exon5			GGCAGAGCCTTCA	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.1606G>A	22.37:g.20760929G>A	ENSP00000383301:p.Ala536Thr	74	0		32	16	NM_003426	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143075	0.37825	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.16897	2.31;2.31;2.31	4.15	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001207	T	0.09113	0.0225	N	0.04335	-0.225	0.20926	N	0.99983	P	0.43788	0.817	P	0.45998	0.5	T	0.12142	-1.0559	10	0.35671	T	0.21	-28.9002	6.9753	0.24672	0.2071:0.0:0.7929:0.0	.	536	Q16587	ZNF74_HUMAN	T	536;536;504	ENSP00000383301:A536T;ENSP00000349098:A536T;ENSP00000385855:A504T	ENSP00000349098:A536T	A	+	1	0	ZNF74	19090929	0.006000	0.16342	0.885000	0.34714	0.695000	0.40330	0.290000	0.18975	1.300000	0.44818	0.655000	0.94253	GCC	.		0.547	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		A	20760929	G	A	20760929	3	1	24	1	0	0	0	0	1	0	0	0	18175	971	34	3	1624	3	ZNF74	22	20760929	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	302835	20760929	30543637	898	4045											
AIFM3	150209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	21333952	21333952	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:21333952G>T	ENST00000399167.2	+	18	1853	c.1613G>T	c.(1612-1614)gGg>gTg	p.G538V	AIFM3_ENST00000335375.5_Missense_Mutation_p.G526V|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000405089.1_Missense_Mutation_p.G544V|AIFM3_ENST00000440238.2_Missense_Mutation_p.G538V|AIFM3_ENST00000333607.6_Missense_Mutation_p.G538V|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000399163.2_Missense_Mutation_p.G538V|AIFM3_ENST00000465606.1_3'UTR|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000479606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	538					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)			ATCATCCAGGGGGATCTGGAG	0.622																																					p.G544V		.											.	.	.	0			c.G1631T						.						116	121	119					22																	21333952		2203	4300	6503	SO:0001583	missense	150209	exon18			TCCAGGGGGATCT	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.1613G>T	22.37:g.21333952G>T	ENSP00000382120:p.Gly538Val	69	0		46	21	NM_001146288	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873202	0.91664	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	4.27	4.27	0.50696	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86393	0.1737	10	0.87932	D	0	-8.1634	14.5733	0.68226	0.0:0.0:1.0:0.0	.	526;526;544;538;538	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	V	538;538;544;526;538;538	ENSP00000382120:G538V;ENSP00000382116:G538V;ENSP00000385800:G544V;ENSP00000335369:G526V;ENSP00000390798:G538V;ENSP00000327671:G538V	ENSP00000327671:G538V	G	+	2	0	AIFM3	19663952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.669000	0.91163	2.378000	0.81104	0.561000	0.74099	GGG	.		0.622	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		T	21333952	G	T	21333952	3	4	24	1	0	0	0	0	1	0	0	0	428	1232	43	3	1697	3	AIFM3	22	21333952	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	573023	21333952	29970614	899	4046											
YDJC	150223	hgsc.bcm.edu;bcgsc.ca	37	22	21982727	21982727	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:21982727G>T	ENST00000292778.6	-	5	1001	c.952C>A	c.(952-954)Ctg>Atg	p.L318M	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	318					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					GAGGGTTCCAGGAAGGGTTCC	0.612																																					p.L318M		.											.	.	.	0			c.C952A						.						102	109	107					22																	21982727		2203	4300	6503	SO:0001583	missense	150223	exon5			GTTCCAGGAAGGG		CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.952C>A	22.37:g.21982727G>T	ENSP00000292778:p.Leu318Met	59	0		48	4	NM_001017964	Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	CCDS33613.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065904	0.76187	.	.	ENSG00000161179	ENST00000292778	T	0.53206	0.63	4.02	-2.0	0.07433	.	0.789333	0.10385	N	0.681097	T	0.33440	0.0863	L	0.36672	1.1	0.18873	N	0.999988	B	0.34015	0.435	B	0.36289	0.221	T	0.34601	-0.9822	10	0.87932	D	0	.	3.9827	0.09501	0.3111:0.355:0.334:0.0	.	318	A8MPS7	YDJC_HUMAN	M	318	ENSP00000292778:L318M	ENSP00000292778:L318M	L	-	1	2	YDJC	20312727	0.000000	0.05858	0.012000	0.15200	0.936000	0.57629	-0.225000	0.09151	-0.175000	0.10725	0.650000	0.86243	CTG	.		0.612	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			T	21982727	G	T	21982727	3	4	24	1	0	0	0	0	1	0	0	0	17520	991	35	3	23	3	YDJC	22	21982727	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	648775	21982727	29321839	900	4047											
TOP3B	8940	broad.mit.edu	37	22	22318376	22318376	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:22318376T>G	ENST00000398793.2	-	11	1557	c.1123A>C	c.(1123-1125)Atc>Ctc	p.I375L	TOP3B_ENST00000357179.5_Missense_Mutation_p.I375L|TOP3B_ENST00000413067.2_Missense_Mutation_p.I104L	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	375					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)		GGGCGGTTGATACCTTCTGCT	0.602																																					p.I375L													.	TOP3B	107	0			c.A1123C						.						63	65	64					22																	22318376		2203	4300	6503	SO:0001583	missense	8940	exon11			GGTTGATACCTTC	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.1123A>C	22.37:g.22318376T>G	ENSP00000381773:p.Ile375Leu	15	0		10	3	NM_003935	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.523790	0.27299	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.21191	2.02;2.02;2.02	4.95	3.9	0.45041	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);	0.113744	0.64402	D	0.000018	T	0.11153	0.0272	N	0.17474	0.49	0.58432	D	0.999999	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.003	T	0.08827	-1.0703	10	0.07325	T	0.83	.	10.8156	0.46573	0.0:0.0754:0.0:0.9246	.	375;375	O95985;O95985-2	TOP3B_HUMAN;.	L	375;375;104	ENSP00000349705:I375L;ENSP00000381773:I375L;ENSP00000393118:I104L	ENSP00000349705:I375L	I	-	1	0	TOP3B	20648376	0.298000	0.24417	0.989000	0.46669	0.656000	0.38851	0.586000	0.23894	0.883000	0.36040	0.459000	0.35465	ATC	.		0.602	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		G	22318376	T	G	22318376	3	3	24	1	0	0	0	0	1	0	0	0	16416	1406	49	4	1497	4	TOP3B	22	22318376	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	335649	22318376	28986190	901	4048											
CHEK2	11200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	29130501	29130501	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:29130501T>C	ENST00000405598.1	-	3	400	c.209A>G	c.(208-210)gAa>gGa	p.E70G	CHEK2_ENST00000382566.1_Missense_Mutation_p.E70G|CHEK2_ENST00000402731.1_Missense_Mutation_p.E70G|CHEK2_ENST00000404276.1_Missense_Mutation_p.E70G|CHEK2_ENST00000403642.1_Missense_Mutation_p.E70G|CHEK2_ENST00000348295.3_Missense_Mutation_p.E70G|CHEK2_ENST00000382578.1_Missense_Mutation_p.E70G|CHEK2_ENST00000328354.6_Missense_Mutation_p.E70G|CHEK2_ENST00000382580.2_Missense_Mutation_p.E70G|CHEK2_ENST00000382565.1_Missense_Mutation_p.E70G|CHEK2_ENST00000544772.1_5'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	70					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						AGAATAGAGTTCCTGAGTGGA	0.552			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.E70G		.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	.	.	0			c.A209G						.						94	95	95					22																	29130501		2203	4300	6503	SO:0001583	missense	11200	exon2			TAGAGTTCCTGAG	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.209A>G	22.37:g.29130501T>C	ENSP00000386087:p.Glu70Gly	52	0		17	12	NM_145862	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	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566118	0.86439	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.94330	0.67;-0.29;-0.56;-3.4;-0.31;-0.31;-0.31;2.16;-0.29;0.67;0.15;2.16;-2.46	5.42	5.42	0.78866	.	0.169262	0.50627	D	0.000102	D	0.92182	0.7521	L	0.38175	1.15	0.50632	D	0.999888	P;P;P;P;P;D	0.53745	0.952;0.925;0.877;0.925;0.877;0.962	P;P;B;P;B;P	0.52343	0.461;0.54;0.339;0.54;0.339;0.696	D	0.90494	0.4469	10	0.23891	T	0.37	-10.427	14.9384	0.70975	0.0:0.0:0.0:1.0	.	70;70;70;70;70;70	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	G	70;70;70;70;70;70;70;70;70;70;70;70;70;80	ENSP00000329012:E70G;ENSP00000372021:E70G;ENSP00000372006:E70G;ENSP00000372007:E70G;ENSP00000329178:E70G;ENSP00000385747:E70G;ENSP00000386087:E70G;ENSP00000372023:E70G;ENSP00000384919:E70G;ENSP00000384835:E70G;ENSP00000397478:E70G;ENSP00000408065:E70G;ENSP00000381099:E80G	ENSP00000329178:E70G	E	-	2	0	CHEK2	27460501	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.187000	0.65087	2.184000	0.69523	0.533000	0.62120	GAA	.		0.552	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		C	29130501	T	C	29130501	3	2	24	1	0	0	0	0	1	0	0	0	3342	1783	62	4	1611	4	CHEK2	22	29130501	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	6812125	29130501	22174065	902	4049											
ZNRF3	84133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	29440787	29440787	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:29440787A>G	ENST00000544604.2	+	5	828	c.653A>G	c.(652-654)gAc>gGc	p.D218G	ZNRF3_ENST00000402174.1_Missense_Mutation_p.D118G|ZNRF3_ENST00000406323.3_Missense_Mutation_p.D118G|ZNRF3_ENST00000332811.4_Missense_Mutation_p.D118G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	218					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GAATACTTTGACATGGGGATT	0.527																																					p.D218G		.											.	.	.	0			c.A653G						.						166	170	169					22																	29440787		2000	4168	6168	SO:0001583	missense	84133	exon5			ACTTTGACATGGG	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.653A>G	22.37:g.29440787A>G	ENSP00000443824:p.Asp218Gly	75	0		20	14	NM_001206998	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581779	0.86748	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.10099	3.05;2.91;2.91;2.91	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.70716	0.97	T	0.01099	-1.1452	10	0.59425	D	0.04	-7.4001	14.9129	0.70773	1.0:0.0:0.0:0.0	.	218	Q9ULT6	ZNRF3_HUMAN	G	218;118;118;118	ENSP00000443824:D218G;ENSP00000328614:D118G;ENSP00000384456:D118G;ENSP00000384553:D118G	ENSP00000328614:D118G	D	+	2	0	ZNRF3	27770787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.603000	0.90871	2.125000	0.65367	0.533000	0.62120	GAC	.		0.527	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		G	29440787	A	G	29440787	3	3	24	1	0	0	0	0	1	0	0	0	18261	275	10	4	367	4	ZNRF3	22	29440787	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	310286	29440787	21863779	903	4050											
ASCC2	84164	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	30186459	30186459	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:30186459C>A	ENST00000397771.2	-	20	2278	c.2101G>T	c.(2101-2103)Ggg>Tgg	p.G701W	ASCC2_ENST00000307790.3_Splice_Site_p.G701W|ASCC2_ENST00000542393.1_Splice_Site_p.G625W			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	701					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AATGCTCACCCTTTCTTGGCG	0.602																																					p.G701W		.											.	.	.	0			c.G2101T						.						51	46	47					22																	30186459		2203	4300	6503	SO:0001630	splice_region_variant	84164	exon19			CTCACCCTTTCTT	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2102+1G>T	22.37:g.30186459C>A		42	0		17	10	NM_032204	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096367	0.76870	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.14893	2.47;2.47;2.48	5.76	5.76	0.90799	.	0.050481	0.85682	D	0.000000	T	0.44414	0.1292	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.29458	-1.0011	10	0.87932	D	0	-33.7584	18.5398	0.91023	0.0:1.0:0.0:0.0	.	625;701	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	W	701;701;625	ENSP00000305502:G701W;ENSP00000380877:G701W;ENSP00000437570:G625W	ENSP00000305502:G701W	G	-	1	0	ASCC2	28516459	1.000000	0.71417	0.996000	0.52242	0.510000	0.34073	6.687000	0.74552	2.713000	0.92767	0.655000	0.94253	GGG	.		0.602	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204	Missense_Mutation	A	30186459	C	A	30186459	5	1	24	1	0	0	0	0	0	0	1	0	1033	695	24	3	180	3	ASCC2	22	30186459	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	745672	30186459	21118107	904	4051											
ISX	91464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	35481519	35481519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:35481519C>T	ENST00000308700.6	+	4	1523	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	ISX_ENST00000404699.2_Nonsense_Mutation_p.Q191*	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	191					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						GGCTCAAGATCAGCTGGCCTC	0.607																																					p.Q191X		.											.	.	.	0			c.C571T						.						173	135	148					22																	35481519		2203	4300	6503	SO:0001587	stop_gained	91464	exon4			CAAGATCAGCTGG	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.571C>T	22.37:g.35481519C>T	ENSP00000311492:p.Gln191*	30	0		29	15	NM_001008494	Q68DJ5	Nonsense_Mutation	SNP	ENST00000308700.6	37	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	44	10.906949	0.99487	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	.	.	.	5.02	3.97	0.46021	.	0.159061	0.29940	N	0.010803	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	10.6139	0.45439	0.1923:0.8077:0.0:0.0	.	.	.	.	X	191	.	ENSP00000311492:Q191X	Q	+	1	0	ISX	33811519	0.107000	0.21998	0.016000	0.15963	0.408000	0.30992	1.812000	0.38952	1.059000	0.40554	0.655000	0.94253	CAG	.		0.607	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		T	35481519	C	T	35481519	4	4	24	1	0	0	0	0	0	1	0	0	7892	827	29	3	585	3	ISX	22	35481519	Nonsense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	5295060	35481519	15823047	905	4052											
APOL2	23780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	36624205	36624205	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:36624205G>A	ENST00000249066.6	-	6	735	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	APOL2_ENST00000358502.5_Missense_Mutation_p.R87W|APOL2_ENST00000451256.2_Missense_Mutation_p.R199W	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	87					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						CTTTTCAACCGAGGAAACTCT	0.502																																					p.R87W		.											.	.	.	0			c.C259T						.						131	142	138					22																	36624205		2197	4297	6494	SO:0001583	missense	23780	exon5			TCAACCGAGGAAA	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.259C>T	22.37:g.36624205G>A	ENSP00000249066:p.Arg87Trp	43	0		30	12	NM_030882	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490857	0.44249	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256;ENST00000529194	T;T;T;T	0.03717	3.83;3.83;3.83;3.83	3.66	-2.09	0.07232	.	0.978229	0.08412	N	0.949636	T	0.12390	0.0301	M	0.71036	2.16	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.69824	0.966;0.941	T	0.20874	-1.0262	10	0.62326	D	0.03	.	6.0865	0.19970	0.0:0.3373:0.3194:0.3433	.	199;87	B4E1T5;Q9BQE5	.;APOL2_HUMAN	W	87;87;199;87	ENSP00000351292:R87W;ENSP00000249066:R87W;ENSP00000403153:R199W;ENSP00000431231:R87W	ENSP00000249066:R87W	R	-	1	2	APOL2	34954151	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-1.323000	0.02692	-0.016000	0.14127	-0.688000	0.03733	CGG	.		0.502	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		A	36624205	G	A	36624205	3	1	24	1	0	0	0	0	1	0	0	0	806	1057	37	1	758	1	APOL2	22	36624205	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	1142686	36624205	14680361	906	4053											
MYH9	4627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	36717867	36717867	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:36717867C>A	ENST00000216181.5	-	7	936		c.e7-1			NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						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						TGAATTTGCCCTAAGTAAGAA	0.527			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																												.		.		Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	.	.	.	0			c.706-1G>T						.						109	97	101					22																	36717867		2203	4300	6503	SO:0001630	splice_region_variant	4627	exon8	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	TTTGCCCTAAGTA		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.706-1G>T	22.37:g.36717867C>A		69	0		37	14	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913688	0.33815	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.914	0.88943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH9	35047813	1.000000	0.71417	0.996000	0.52242	0.161000	0.22273	7.818000	0.86416	2.586000	0.87340	0.561000	0.74099	.	.		0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	Intron	A	36717867	C	A	36717867	5	1	24	1	0	0	0	0	0	0	1	0	10080	695	24	3	5317	3	MYH9	22	36717867	Splice_Site	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	93662	36717867	14586699	907	4054											
CDC42EP1	11135	broad.mit.edu	37	22	37964736	37964736	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:37964736A>G	ENST00000249014.4	+	3	1505	c.1085A>G	c.(1084-1086)cAg>cGg	p.Q362R		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	362					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					AGGGCGCCCCAGGCAGGCAGC	0.647																																					p.Q362R													.	CDC42EP1	53	0			c.A1085G						.						22	27	25					22																	37964736		2203	4300	6503	SO:0001583	missense	11135	exon3			CGCCCCAGGCAGG	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.1085A>G	22.37:g.37964736A>G	ENSP00000249014:p.Gln362Arg	14	0		8	3	NM_152243	A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	A	1.910	-0.451018	0.04572	.	.	ENSG00000128283	ENST00000249014	T	0.28895	1.59	4.57	-7.04	0.01578	.	1.673740	0.03305	N	0.189655	T	0.16727	0.0402	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37103	-0.9720	10	0.05959	T	0.93	1.0E-4	9.6851	0.40094	0.1643:0.4232:0.4125:0.0	.	362	Q00587	BORG5_HUMAN	R	362	ENSP00000249014:Q362R	ENSP00000249014:Q362R	Q	+	2	0	CDC42EP1	36294682	0.000000	0.05858	0.151000	0.22473	0.164000	0.22412	-0.402000	0.07223	-1.138000	0.02884	-0.441000	0.05720	CAG	.		0.647	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		G	37964736	A	G	37964736	3	3	24	1	0	0	0	0	1	0	0	0	3082	188	7	4	1091	4	CDC42EP1	22	37964736	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1246869	37964736	13339830	908	4055											
ATF4	468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	39917554	39917554	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:39917554A>C	ENST00000337304.2	+	1	986	c.104A>C	c.(103-105)gAt>gCt	p.D35A	ATF4_ENST00000404241.2_Missense_Mutation_p.D35A|ATF4_ENST00000396680.1_Missense_Mutation_p.D35A	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	35					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)	GGTCTCTTAGATGATTACCTG	0.572																																					p.D35A		.											.	.	.	0			c.A104C						.						65	64	64					22																	39917554		2203	4300	6503	SO:0001583	missense	468	exon1			TCTTAGATGATTA	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.104A>C	22.37:g.39917554A>C	ENSP00000336790:p.Asp35Ala	65	0		35	10	NM_001675	Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741385	0.69304	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.74002	-0.8;-0.8;-0.8	4.37	4.37	0.52481	.	0.445824	0.23556	N	0.046912	T	0.78947	0.4364	M	0.69823	2.125	0.47547	D	0.999458	P	0.48503	0.911	P	0.49387	0.609	T	0.82212	-0.0569	10	0.87932	D	0	-7.1823	13.5848	0.61924	1.0:0.0:0.0:0.0	.	35	P18848	ATF4_HUMAN	A	35	ENSP00000384587:D35A;ENSP00000336790:D35A;ENSP00000379912:D35A	ENSP00000336790:D35A	D	+	2	0	ATF4	38247500	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.318000	0.72866	1.614000	0.50241	0.459000	0.35465	GAT	.		0.572	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		C	39917554	A	C	39917554	3	2	24	1	0	0	0	0	1	0	0	0	1083	333	12	4	106	4	ATF4	22	39917554	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	1952818	39917554	11387012	909	4056											
CACNA1I	8911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	40059833	40059833	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:40059833A>C	ENST00000402142.3	+	19	3584	c.3584A>C	c.(3583-3585)gAg>gCg	p.E1195A	CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1195A|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1160A|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1160A|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1160A|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E1201A	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1195					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)	CCTCAGATCGAGGCCGGCAGC	0.622																																					p.E1195A		.											.	.	.	0			c.A3584C						.						95	105	102					22																	40059833		2036	4177	6213	SO:0001583	missense	8911	exon19			AGATCGAGGCCGG	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.3584A>C	22.37:g.40059833A>C	ENSP00000385019:p.Glu1195Ala	17	0		15	6	NM_021096	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960440	0.53400	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	5.4	5.4	0.78164	.	0.167707	0.52532	D	0.000065	D	0.97467	0.9171	L	0.41961	1.31	0.39452	D	0.967417	P;D;P;P	0.71674	0.792;0.998;0.792;0.895	B;D;B;P	0.81914	0.415;0.995;0.415;0.451	D	0.99372	1.0920	10	0.72032	D	0.01	.	15.423	0.75028	1.0:0.0:0.0:0.0	.	1160;1195;1160;1195	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	A	1195;1160;1195;1160;1201;1160	ENSP00000385019:E1195A;ENSP00000384093:E1160A;ENSP00000383887:E1195A;ENSP00000385680:E1160A;ENSP00000337829:E1201A;ENSP00000383028:E1160A	ENSP00000337829:E1201A	E	+	2	0	CACNA1I	38389779	1.000000	0.71417	0.983000	0.44433	0.281000	0.26958	4.977000	0.63792	2.039000	0.60335	0.459000	0.35465	GAG	.		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		C	40059833	A	C	40059833	3	2	24	1	0	0	0	0	1	0	0	0	2553	304	11	4	3658	4	CACNA1I	22	40059833	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	142279	40059833	11244733	910	4057											
EP300	2033	broad.mit.edu	37	22	41513219	41513219	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:41513219C>G	ENST00000263253.7	+	2	1342	c.123C>G	c.(121-123)caC>caG	p.H41Q		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	41	Interaction with ALX1.|Interaction with RORA.				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						ACTTGGAGCACGACTTACCAG	0.368			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.H41Q				Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	EP300	367	0			c.C123G						.						72	72	72					22																	41513219		2203	4300	6503	SO:0001583	missense	2033	exon2	Familial Cancer Database	Broad Thumb-Hallux syndrome	GGAGCACGACTTA	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.123C>G	22.37:g.41513219C>G	ENSP00000263253:p.His41Gln	52	0		35	12	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.266190	0.40095	.	.	ENSG00000100393	ENST00000263253	D	0.82711	-1.64	6.16	-5.19	0.02832	.	0.000000	0.49916	D	0.000123	T	0.69052	0.3068	N	0.17723	0.515	0.38705	D	0.953088	P	0.38440	0.631	B	0.38378	0.272	T	0.61778	-0.6993	10	0.49607	T	0.09	-11.5288	15.6194	0.76793	0.0:0.0752:0.0755:0.8493	.	41	Q09472	EP300_HUMAN	Q	41	ENSP00000263253:H41Q	ENSP00000263253:H41Q	H	+	3	2	EP300	39843165	0.342000	0.24809	0.754000	0.31244	0.968000	0.65278	-0.453000	0.06778	-1.650000	0.01506	-0.802000	0.03209	CAC	.		0.368	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		G	41513219	C	G	41513219	3	3	24	1	0	0	0	0	1	0	0	0	5164	535	19	5	129	5	EP300	22	41513219	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	1453386	41513219	9791347	911	4058											
EP300	2033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	41574848	41574848	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:41574848G>A	ENST00000263253.7	+	31	8352	c.7133G>A	c.(7132-7134)aGc>aAc	p.S2378N	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2378					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						CAGCTTGCTAGCAATCCAGGC	0.537			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.S2378N		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	.	.	0			c.G7133A						.						49	50	50					22																	41574848		2203	4300	6503	SO:0001583	missense	2033	exon31	Familial Cancer Database	Broad Thumb-Hallux syndrome	TTGCTAGCAATCC	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.7133G>A	22.37:g.41574848G>A	ENSP00000263253:p.Ser2378Asn	62	0		38	14	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	8.220	0.802224	0.16397	.	.	ENSG00000100393	ENST00000263253	D	0.84146	-1.81	5.65	3.57	0.40892	.	0.106281	0.41097	D	0.000951	T	0.68044	0.2958	N	0.11064	0.09	0.31949	N	0.609974	B	0.02656	0.0	B	0.04013	0.001	T	0.60707	-0.7210	10	0.12430	T	0.62	-2.2404	10.1606	0.42849	0.2126:0.0:0.7874:0.0	.	2378	Q09472	EP300_HUMAN	N	2378	ENSP00000263253:S2378N	ENSP00000263253:S2378N	S	+	2	0	EP300	39904794	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	3.244000	0.51399	0.748000	0.32831	-0.150000	0.13652	AGC	.		0.537	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41574848	G	A	41574848	3	1	24	1	0	0	0	0	1	0	0	0	5164	971	34	3	7255	3	EP300	22	41574848	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	61629	41574848	9729718	912	4059											
UPK3A	7380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	45681856	45681856	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:45681856T>G	ENST00000216211.4	+	2	119	c.87T>G	c.(85-87)acT>acG	p.T29T	UPK3A_ENST00000396082.2_Silent_p.T29T	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	29					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)		CCAGTGTGACTTTCGCCACCA	0.582																																					p.T29T		.											.	.	.	0			c.T87G						.						127	93	105					22																	45681856		2203	4300	6503	SO:0001819	synonymous_variant	7380	exon2			TGTGACTTTCGCC	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.87T>G	22.37:g.45681856T>G		37	0		21	5	NM_006953	B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	ENST00000216211.4	37	CCDS14064.1																																																																																			.		0.582	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		G	45681856	T	G	45681856	2	3	24	1	0	0	0	0	0	0	0	1	17059	1596	56	4		4	UPK3A	22	45681856	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4107008	45681856	5622710	913	4060											
ATXN10	25814	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	46125305	46125305	+	Splice_Site	SNP	A	A	G	rs547165095		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:46125305A>G	ENST00000252934.5	+	7	994	c.729A>G	c.(727-729)agA>agG	p.R243R	ATXN10_ENST00000381061.4_Splice_Site_p.R179R	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	243					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TGTTTTACAGAGTTACACTGT	0.343																																					p.R243R		.											.	.	.	0			c.A729G						.						125	107	113					22																	46125305		2203	4300	6503	SO:0001630	splice_region_variant	25814	exon7			TTACAGAGTTACA	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.729-1A>G	22.37:g.46125305A>G		40	0		15	7	NM_013236	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	37	CCDS14070.1																																																																																			.		0.343	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236	Silent	G	46125305	A	G	46125305	5	3	24	1	0	0	0	0	0	0	1	0	1211	318	11	4	755	4	ATXN10	22	46125305	Splice_Site	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	443449	46125305	5179261	914	4061	42	2									
ATXN10	25814	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	46125307	46125307	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:46125307T>G	ENST00000252934.5	+	7	996	c.731T>G	c.(730-732)gTt>gGt	p.V244G	ATXN10_ENST00000381061.4_Missense_Mutation_p.V180G	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	244					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTTTACAGAGTTACACTGTTA	0.353																																					p.V244G		.											.	.	.	0			c.T731G						.						130	110	116					22																	46125307		2203	4300	6503	SO:0001583	missense	25814	exon7			ACAGAGTTACACT	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.731T>G	22.37:g.46125307T>G	ENSP00000252934:p.Val244Gly	39	0		15	7	NM_013236	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666383	0.47677	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	.	.	.	5.26	5.26	0.73747	Armadillo-type fold (1);	0.126283	0.53938	D	0.000059	T	0.68128	0.2967	L	0.58101	1.795	0.80722	D	1	D;D	0.57899	0.981;0.96	P;P	0.60345	0.873;0.723	T	0.69068	-0.5243	9	0.48119	T	0.1	-6.4763	13.0497	0.58948	0.0:0.0:0.0:1.0	.	180;244	A6NLC4;Q9UBB4	.;ATX10_HUMAN	G	180;244;244	.	ENSP00000252934:V244G	V	+	2	0	ATXN10	44503971	0.998000	0.40836	0.738000	0.30950	0.104000	0.19210	4.275000	0.58927	2.202000	0.70862	0.533000	0.62120	GTT	.		0.353	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		G	46125307	T	G	46125307	3	3	24	1	0	0	0	0	1	0	0	0	1211	1725	60	4	757	4	ATXN10	22	46125307	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	2	46125307	5179259	915	4062	42	2									
ZBED4	9889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	50278233	50278233	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:50278233A>T	ENST00000216268.5	+	2	1400	c.923A>T	c.(922-924)cAc>cTc	p.H308L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	308						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)		GTCTGCATTCACTGCATGAAC	0.582																																					p.H308L		.											.	.	.	0			c.A923T						.						87	89	89					22																	50278233		2203	4300	6503	SO:0001583	missense	9889	exon2			GCATTCACTGCAT	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.923A>T	22.37:g.50278233A>T	ENSP00000216268:p.His308Leu	27	0		17	7	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393421	0.83011	.	.	ENSG00000100426	ENST00000216268	T	0.41065	1.01	5.41	5.41	0.78517	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.28115	0.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57318	-0.7832	10	0.87932	D	0	-17.5629	15.6061	0.76672	1.0:0.0:0.0:0.0	.	308	O75132	ZBED4_HUMAN	L	308	ENSP00000216268:H308L	ENSP00000216268:H308L	H	+	2	0	ZBED4	48664237	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	6.475000	0.73582	2.273000	0.75805	0.528000	0.53228	CAC	.		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		T	50278233	A	T	50278233	3	4	24	1	0	0	0	0	1	0	0	0	17568	159	6	5	925	5	ZBED4	22	50278233	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	4152926	50278233	1026333	916	4063											
PLXNB2	23654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	50720113	50720113	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:50720113T>A	ENST00000449103.1	-	21	3544	c.3404A>T	c.(3403-3405)gAg>gTg	p.E1135V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E1135V|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1135					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)		GGTGCAGCGCTCGGCACCCAC	0.672																																					p.E1135V		.											.	.	.	0			c.A3404T						.						26	31	29					22																	50720113		2163	4253	6416	SO:0001583	missense	23654	exon21			CAGCGCTCGGCAC		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.3404A>T	22.37:g.50720113T>A	ENSP00000409171:p.Glu1135Val	34	0		24	12	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.83|12.83	2.056799|2.056799	0.36277|0.36277	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337|ENST00000427829	T;T|.	0.03607|.	3.87;3.87|.	4.23|4.23	4.23|4.23	0.50019|0.50019	Immunoglobulin-like fold (1);|.	0.000000|.	0.53938|.	D|.	0.000049|.	T|T	0.52885|0.52885	0.1762|0.1762	L|L	0.40543|0.40543	1.245|1.245	0.43545|0.43545	D|D	0.995842|0.995842	B|.	0.23185|.	0.081|.	B|.	0.20955|.	0.032|.	T|T	0.49113|0.49113	-0.8973|-0.8973	10|5	0.27785|.	T|.	0.31|.	.|.	8.2663|8.2663	0.31815|0.31815	0.0:0.09:0.0:0.91|0.0:0.09:0.0:0.91	.|.	1135|.	O15031|.	PLXB2_HUMAN|.	V|C	1135|153	ENSP00000409171:E1135V;ENSP00000352288:E1135V|.	ENSP00000352288:E1135V|.	E|S	-|-	2|1	0|0	PLXNB2|PLXNB2	49062240|49062240	0.399000|0.399000	0.25287|0.25287	1.000000|1.000000	0.80357|0.80357	0.826000|0.826000	0.46750|0.46750	0.821000|0.821000	0.27338|0.27338	1.788000|1.788000	0.52465|0.52465	0.402000|0.402000	0.26972|0.26972	GAG|AGC	.		0.672	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50720113	T	A	50720113	3	1	24	1	0	0	0	0	1	0	0	0	12163	1551	54	5	2180	5	PLXNB2	22	50720113	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	441880	50720113	584453	917	4064											
TYMP	1890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	50967621	50967621	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chr22:50967621C>T	ENST00000252029.3	-	3	523	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	TYMP_ENST00000395680.1_Missense_Mutation_p.V121M|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Missense_Mutation_p.V121M|TYMP_ENST00000395681.1_Missense_Mutation_p.V121M	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	121					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)	TTGTCACCCACACCCCCTGTG	0.637																																					p.V121M		.											.	.	.	0			c.G361A						.						56	53	54					22																	50967621		2203	4300	6503	SO:0001583	missense	1890	exon3			CACCCACACCCCC	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.361G>A	22.37:g.50967621C>T	ENSP00000252029:p.Val121Met	62	0		46	21	NM_001257989	A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410499	0.83340	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96	5.21	5.21	0.72293	Glycosyl transferase, family 3 (3);	0.000000	0.64402	D	0.000001	D	0.99363	0.9776	H	0.97682	4.055	0.47094	D	0.999318	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	0.98521	1.0623	10	0.87932	D	0	-7.4255	16.2524	0.82492	0.0:1.0:0.0:0.0	.	121;121;121;121	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	M	121	ENSP00000379037:V121M;ENSP00000379038:V121M;ENSP00000252029:V121M;ENSP00000379036:V121M;ENSP00000395875:V121M	ENSP00000252029:V121M	V	-	1	0	TYMP	49314487	1.000000	0.71417	0.424000	0.26647	0.568000	0.35870	6.836000	0.75349	2.441000	0.82636	0.561000	0.74099	GTG	.		0.637	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		T	50967621	C	T	50967621	3	4	24	1	0	0	0	0	1	0	0	0	16860	478	17	3	1119	3	TYMP	22	50967621	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	247508	50967621	336945	918	4065											
ARSD	414	broad.mit.edu	37	X	2836254	2836254	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:2836254C>T	ENST00000381154.1	-	5	529	c.454G>A	c.(454-456)Ggt>Agt	p.G152S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	152					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)				CAATTCACACCCTGGTGCCAT	0.532																																					p.G152S													.	ARSD	47	0			c.G454A						.						25	15	19					X																	2836254		2188	4276	6464	SO:0001583	missense	414	exon5			TCACACCCTGGTG	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.454G>A	X.37:g.2836254C>T	ENSP00000370546:p.Gly152Ser	25	0		16	3	NM_001669	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	c	17.09	3.300164	0.60195	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.95412	-3.7	3.47	3.47	0.39725	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.98213	0.9409	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99470	1.0945	10	0.87932	D	0	.	14.5312	0.67926	0.0:1.0:0.0:0.0	.	152;152	E9PAW5;P51689	.;ARSD_HUMAN	S	152	ENSP00000370546:G152S	ENSP00000217890:G152S	G	-	1	0	ARSD	2846254	1.000000	0.71417	0.870000	0.34147	0.063000	0.16089	6.346000	0.72999	1.394000	0.46624	0.420000	0.28162	GGT	.		0.532	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			T	2836254	C	T	2836254	3	4	24	1	0	0	0	0	1	0	0	0	990	623	22	3	1504	3	ARSD	23	2836254	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09		2836254	152434306	919	4066											
ARSE	415	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	2876371	2876371	+	Silent	SNP	C	C	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:2876371C>G	ENST00000381134.3	-	3	195	c.129G>C	c.(127-129)ctG>ctC	p.L43L	ARSE_ENST00000540563.1_Intron|ARSE_ENST00000545496.1_Silent_p.L68L|ARSE_ENST00000496095.1_5'Flank	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	43					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)				CGTCCGCCATCAGAAGAAGGA	0.557																																					p.L43L		.											.	.	.	0			c.G129C						.						113	80	91					X																	2876371		2203	4300	6503	SO:0001819	synonymous_variant	415	exon3			CGCCATCAGAAGA	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.129G>C	X.37:g.2876371C>G		27	0		16	15	NM_000047	Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	CCDS14122.1																																																																																			.		0.557	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		G	2876371	C	G	2876371	2	3	24	1	0	0	0	0	0	0	0	1	991	813	29	5		5	ARSE	23	2876371	Silent	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	40117	2876371	152394189	920	4067											
STS	412	broad.mit.edu;bcgsc.ca	37	X	7177472	7177482	+	Frame_Shift_Del	DEL	TGGGATCTCTT	TGGGATCTCTT	-			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:7177472_7177482delTGGGATCTCTT	ENST00000217961.4	+	5	700_710	c.480_490delTGGGATCTCTT	c.(478-492)tatgggatctctttgfs	p.GISL161fs		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	161					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	ATTATTTCTATGGGATCTCTTTGACCAATCT	0.536									Ichthyosis																												p.160_164del													.	STS	64	0			c.480_490del						.																																			SO:0001589	frameshift_variant	412	exon5	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTTCTATGGGATC	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.480_490delTGGGATCTCTT	X.37:g.7177472_7177482delTGGGATCTCTT	ENSP00000217961:p.Gly161fs	17	0		6	4	NM_000351	B2RA47	Frame_Shift_Del	DEL	ENST00000217961.4	37	CCDS14127.1																																																																																			.		0.536	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		-	7177482	TGGGATCTCTT	-	7177472	7	5	24	1	0	1	0	1	0	0	0	0	15379	1471	51	0	498	0	STS	23	7177472	Frame_Shift_Del	DEL	TGGGATCTCTT	TCGA-W5-AA39-01A-11D-A417-09	4301101	7177472	148093088	921	4068											
RPS6KA3	6197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	20183169	20183169	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:20183169T>C	ENST00000379565.3	-	18	1819	c.1612A>G	c.(1612-1614)Aga>Gga	p.R538G	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R509G|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R508G|RPS6KA3_ENST00000479809.1_Intron|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R510G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	538	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|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 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)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TTCAAGTCTCTATGAACCACC	0.333																																					p.R538G		.											.	.	.	0			c.A1612G						.						75	70	72					X																	20183169		2203	4300	6503	SO:0001583	missense	6197	exon18			AGTCTCTATGAAC	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1612A>G	X.37:g.20183169T>C	ENSP00000368884:p.Arg538Gly	93	0		48	41	NM_004586	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311211	0.60414	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.67	5.67	0.87782	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	0.79713	0.4493	M	0.89785	3.06	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.907;0.999	D;D;P;D	0.70227	0.968;0.946;0.7;0.968	D	0.83512	0.0081	10	0.54805	T	0.06	.	14.9165	0.70801	0.0:0.0:0.0:1.0	.	509;508;510;538	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	G	538;510;508;509	ENSP00000368884:R538G;ENSP00000440220:R510G;ENSP00000368865:R508G;ENSP00000444837:R509G	ENSP00000368865:R508G	R	-	1	2	RPS6KA3	20093090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.186000	0.42593	1.905000	0.55150	0.486000	0.48141	AGA	.		0.333	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		C	20183169	T	C	20183169	3	2	24	1	0	0	0	0	1	0	0	0	13697	1530	53	4	630	4	RPS6KA3	23	20183169	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	13005697	20183169	135087391	922	4069											
CYBB	1536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	37653034	37653034	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:37653034T>G	ENST00000378588.4	+	5	521	c.454T>G	c.(454-456)Tat>Gat	p.Y152D	CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.Y120D	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	152	Ferric oxidoreductase.				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)	AAATGAAAGTTATCTCAATTT	0.373																																					p.Y152D		.											.	.	.	0			c.T454G						.						100	85	90					X																	37653034		2202	4300	6502	SO:0001583	missense	1536	exon5			GAAAGTTATCTCA	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.454T>G	X.37:g.37653034T>G	ENSP00000367851:p.Tyr152Asp	33	0		25	20	NM_000397	A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.712394	0.30322	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.91011	-2.77;-2.77	5.67	5.67	0.87782	Flavoprotein transmembrane component (1);	0.156902	0.64402	D	0.000015	D	0.93959	0.8066	M	0.62154	1.92	0.80722	D	1	D;D	0.61697	0.973;0.99	P;D	0.65773	0.847;0.938	D	0.94527	0.7732	10	0.87932	D	0	.	14.9689	0.71217	0.0:0.0:0.0:1.0	.	120;152	F5GWD2;P04839	.;CY24B_HUMAN	D	152;120	ENSP00000367851:Y152D;ENSP00000441896:Y120D	ENSP00000367851:Y152D	Y	+	1	0	CYBB	37537974	1.000000	0.71417	0.794000	0.32065	0.048000	0.14542	6.382000	0.73167	1.917000	0.55516	0.483000	0.47432	TAT	.		0.373	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			G	37653034	T	G	37653034	3	3	24	1	0	0	0	0	1	0	0	0	4142	1754	61	4	472	4	CYBB	23	37653034	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	17469865	37653034	117617526	923	4070											
BCOR	54880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	39921601	39921601	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:39921601A>G	ENST00000378444.4	-	10	4447	c.4219T>C	c.(4219-4221)Tat>Cat	p.Y1407H	BCOR_ENST00000342274.4_Missense_Mutation_p.Y1373H|BCOR_ENST00000378455.4_Missense_Mutation_p.Y1355H|BCOR_ENST00000378463.1_Missense_Mutation_p.Y250H|BCOR_ENST00000397354.3_Missense_Mutation_p.Y1373H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1407					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						GACAGATCATAGTCCGAACTG	0.577			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																														p.Y1407H		.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	.	0			c.T4219C						.						92	64	73					X																	39921601		2202	4300	6502	SO:0001583	missense	54880	exon10			GATCATAGTCCGA	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.4219T>C	X.37:g.39921601A>G	ENSP00000367705:p.Tyr1407His	72	0		28	23	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	8.236	0.805658	0.16467	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.68765	-0.35;1.03;1.1;1.08;1.08;1.08;-0.31	5.71	5.71	0.89125	.	.	.	.	.	T	0.61223	0.2330	N	0.14661	0.345	0.09310	N	0.999997	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.56700	0.804;0.646;0.804	T	0.52449	-0.8574	9	0.25751	T	0.34	-9.4165	10.5765	0.45229	0.7061:0.2939:0.0:0.0	.	1355;1407;1373	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	H	277;250;1355;1373;1407;1373;80	ENSP00000408006:Y277H;ENSP00000367724:Y250H;ENSP00000367716:Y1355H;ENSP00000380512:Y1373H;ENSP00000367705:Y1407H;ENSP00000345923:Y1373H;ENSP00000387552:Y80H	ENSP00000345923:Y1373H	Y	-	1	0	BCOR	39806545	1.000000	0.71417	0.109000	0.21407	0.764000	0.43329	4.034000	0.57289	1.902000	0.55061	0.486000	0.48141	TAT	.		0.577	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		G	39921601	A	G	39921601	3	3	24	1	0	0	0	0	1	0	0	0	1387	420	15	4	1072	4	BCOR	23	39921601	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	2268567	39921601	115348959	924	4071											
RBM10	8241	hgsc.bcm.edu	37	X	47030429	47030429	+	Silent	SNP	T	T	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:47030429T>C	ENST00000377604.3	+	4	946	c.204T>C	c.(202-204)gaT>gaC	p.D68D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	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	68					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						TCGGCCAGGATTCCTACGAGG	0.687																																					p.D133D	Melanoma(171;120 2705 19495 39241)	.											.	.	.	0			c.T399C						.						15	15	15					X																	47030429		2198	4273	6471	SO:0001819	synonymous_variant	8241	exon4			CCAGGATTCCTAC	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.204T>C	X.37:g.47030429T>C		6	0		10	8	NM_001204468	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	CCDS14274.1																																																																																			.		0.687	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		C	47030429	T	C	47030429	2	2	24	1	0	0	0	0	0	0	0	1	13156	1490	52	4		4	RBM10	23	47030429	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	7108828	47030429	108240131	925	4072											
ZNF630	57232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	47918881	47918881	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:47918881T>G	ENST00000409324.3	-	5	1176	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF630_ENST00000276054.4_Missense_Mutation_p.K193T|ZNF630_ENST00000442455.3_Missense_Mutation_p.K303T|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	317					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						TTCATAGGGTTTCTCCCCAGT	0.423																																					p.K317T		.											.	.	.	0			c.A950C						.						62	55	58					X																	47918881		2194	4291	6485	SO:0001583	missense	57232	exon5			TAGGGTTTCTCCC	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.950A>C	X.37:g.47918881T>G	ENSP00000386393:p.Lys317Thr	33	0		27	24	NM_001037735	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	14.52	2.560402	0.45590	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24908	1.83;1.83;1.83	2.31	2.31	0.28768	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51126	0.1656	M	0.87456	2.885	0.25174	N	0.990259	D	0.76494	0.999	D	0.73708	0.981	T	0.31503	-0.9941	9	0.72032	D	0.01	.	7.6956	0.28592	0.0:0.0:0.0:1.0	.	317	Q2M218	ZN630_HUMAN	T	303;193;317	ENSP00000393163:K303T;ENSP00000354683:K193T;ENSP00000386393:K317T	ENSP00000354683:K193T	K	-	2	0	ZNF630	47803825	0.311000	0.24536	0.644000	0.29465	0.679000	0.39708	0.487000	0.22356	0.961000	0.38030	0.441000	0.28932	AAA	.		0.423	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		G	47918881	T	G	47918881	3	3	24	1	0	0	0	0	1	0	0	0	18102	1841	64	4	1027	4	ZNF630	23	47918881	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	888452	47918881	107351679	926	4073											
HDAC6	10013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	48661354	48661354	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:48661354A>C	ENST00000334136.5	+	3	348	c.170A>C	c.(169-171)aAg>aCg	p.K57T	HDAC6_ENST00000376619.2_Missense_Mutation_p.K57T|HDAC6_ENST00000444343.2_Missense_Mutation_p.K71T|HDAC6_ENST00000413163.2_Missense_Mutation_p.K2T|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	57					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGCAAAATGAAGAAGCTCGGC	0.498																																					p.K57T	Pancreas(112;205 1675 2305 8976 15959)	.											.	.	.	0			c.A170C						.						73	58	63					X																	48661354		2203	4300	6503	SO:0001583	missense	10013	exon3			AAATGAAGAAGCT	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.170A>C	X.37:g.48661354A>C	ENSP00000334061:p.Lys57Thr	18	0		8	7	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917993	0.73098	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T	0.65732	0.02;0.03;0.03;-0.17	4.42	3.25	0.37280	.	0.467933	0.20797	N	0.085508	T	0.63082	0.2481	L	0.32530	0.975	0.26508	N	0.974647	D;P;D;D	0.76494	0.998;0.759;0.99;0.999	P;B;P;D	0.83275	0.878;0.19;0.815;0.996	T	0.52230	-0.8603	10	0.45353	T	0.12	-20.3335	3.1598	0.06516	0.6749:0.0:0.1149:0.2102	.	47;2;57;57	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	T	57;57;71;57;57;57;57;2;57;57;57;57	ENSP00000398566:K71T;ENSP00000334061:K57T;ENSP00000365804:K57T;ENSP00000398801:K2T	ENSP00000334061:K57T	K	+	2	0	HDAC6	48546298	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.806000	0.38892	0.654000	0.30846	0.486000	0.48141	AAG	.		0.498	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		C	48661354	A	C	48661354	3	2	24	1	0	0	0	0	1	0	0	0	7038	72	3	4	176	4	HDAC6	23	48661354	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	742473	48661354	106609206	927	4074											
MAGED1	9500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	51644872	51644872	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:51644872C>A	ENST00000375722.1	+	12	2435	c.2183C>A	c.(2182-2184)tCc>tAc	p.S728Y	MAGED1_ENST00000326587.7_Missense_Mutation_p.S728Y|MAGED1_ENST00000375772.3_Missense_Mutation_p.S728Y|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.S784Y			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	728					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|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 branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATCCCTGGTCCAGAATTCCA	0.542										Multiple Myeloma(10;0.10)																											p.S784Y		.											.	.	.	0			c.C2351A						.						97	94	95					X																	51644872		2203	4300	6503	SO:0001583	missense	9500	exon13			CCTGGTCCAGAAT	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2183C>A	X.37:g.51644872C>A	ENSP00000364874:p.Ser728Tyr	36	0		28	27	NM_001005333	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254694	0.39896	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04360	3.69;3.69;3.69;3.64	4.09	4.09	0.47781	.	0.163615	0.29565	N	0.011786	T	0.08223	0.0205	N	0.19112	0.55	0.34291	D	0.68321	D;D	0.64830	0.994;0.978	P;P	0.59424	0.857;0.675	T	0.16928	-1.0386	10	0.87932	D	0	.	10.6836	0.45830	0.0:1.0:0.0:0.0	.	784;728	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	Y	728;728;728;784	ENSP00000364927:S728Y;ENSP00000364874:S728Y;ENSP00000325333:S728Y;ENSP00000364847:S784Y	ENSP00000325333:S728Y	S	+	2	0	MAGED1	51661612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.833000	0.48159	2.284000	0.76573	0.513000	0.50165	TCC	.		0.542	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		A	51644872	C	A	51644872	3	1	24	1	0	0	0	0	1	0	0	0	9221	855	30	3	2397	3	MAGED1	23	51644872	Missense_Mutation	SNP	C	TCGA-W5-AA39-01A-11D-A417-09	2983518	51644872	103625688	928	4075											
MAGEH1	28986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	55479371	55479371	+	Silent	SNP	T	T	G	rs267606487		TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:55479371T>G	ENST00000342972.1	+	1	834	c.564T>G	c.(562-564)tcT>tcG	p.S188S	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	188	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						ACCGATGCTCTAAAGACTGGC	0.507																																					p.S188S		.											.	.	.	0			c.T564G						.						103	97	99					X																	55479371		2203	4300	6503	SO:0001819	synonymous_variant	28986	exon1			ATGCTCTAAAGAC	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.564T>G	X.37:g.55479371T>G		30	0		15	14	NM_014061	B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	ENST00000342972.1	37	CCDS14369.1																																																																																			.		0.507	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		G	55479371	T	G	55479371	2	3	24	1	0	0	0	0	0	0	0	1	9226	1509	53	4		4	MAGEH1	23	55479371	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	3834499	55479371	99791189	929	4076											
COL4A5	1287	bcgsc.ca	37	X	107909789	107909789	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:107909789G>A	ENST00000361603.2	+	39	3762	c.3518G>A	c.(3517-3519)gGt>gAt	p.G1173D	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1173D	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1173	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						GGTCAAGATGGTATTCCTGGA	0.448									Alport syndrome with Diffuse Leiomyomatosis																												p.G1173D													.	COL4A5	262	0			c.G3518A						.						69	60	63					X																	107909789		2203	4300	6503	SO:0001583	missense	1287	exon39	Familial Cancer Database		AAGATGGTATTCC	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.3518G>A	X.37:g.107909789G>A	ENSP00000354505:p.Gly1173Asp	55	0		25	4	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805021	0.70682	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99353	-5.77;-5.77	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96983	0.9716	10	0.87932	D	0	.	18.4199	0.90587	0.0:0.0:1.0:0.0	.	1173;1173	E7EVY4;P29400	.;CO4A5_HUMAN	D	1173	ENSP00000331902:G1173D;ENSP00000354505:G1173D	ENSP00000331902:G1173D	G	+	2	0	COL4A5	107796445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.265000	0.89869	2.290000	0.77057	0.600000	0.82982	GGT	.		0.448	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107909789	G	A	107909789	3	1	24	1	0	0	0	0	1	0	0	0	3701	1261	44	3	3672	3	COL4A5	23	107909789	Missense_Mutation	SNP	G	TCGA-W5-AA39-01A-11D-A417-09	52430418	107909789	47360771	930	4077											
STAG2	10735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	123200253	123200253	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:123200253A>C	ENST00000371160.1	+	23	2522	c.2232A>C	c.(2230-2232)caA>caC	p.Q744H	STAG2_ENST00000371144.3_Missense_Mutation_p.Q744H|STAG2_ENST00000218089.9_Missense_Mutation_p.Q744H|STAG2_ENST00000354548.5_Missense_Mutation_p.Q675H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.Q744H|STAG2_ENST00000371157.3_Missense_Mutation_p.Q744H	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	744					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						TCCTTTGGCAACTTGCTAAGA	0.343																																					p.Q744H		.											.	.	.	0			c.A2232C						.						99	81	87					X																	123200253		2203	4300	6503	SO:0001583	missense	10735	exon23			TTGGCAACTTGCT	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.2232A>C	X.37:g.123200253A>C	ENSP00000360202:p.Gln744His	77	0		32	30	NM_001042749	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671992	0.29693	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.32	2.46	0.29980	Armadillo-type fold (1);	0.231129	0.44688	D	0.000426	T	0.20901	0.0503	L	0.31207	0.915	0.34869	D	0.743403	B;B	0.12013	0.005;0.001	B;B	0.17979	0.02;0.002	T	0.12243	-1.0555	10	0.41790	T	0.15	-5.9633	8.8581	0.35240	0.2633:0.0:0.7367:0.0	.	744;744	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	H	744;675;744;744;744;744	ENSP00000218089:Q744H;ENSP00000346555:Q675H;ENSP00000360202:Q744H;ENSP00000360199:Q744H;ENSP00000360187:Q744H;ENSP00000360186:Q744H	ENSP00000218089:Q744H	Q	+	3	2	STAG2	123027934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.075000	0.30716	0.144000	0.18951	0.486000	0.48141	CAA	.		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		C	123200253	A	C	123200253	3	2	24	1	0	0	0	0	1	0	0	0	15290	40	2	4	2314	4	STAG2	23	123200253	Missense_Mutation	SNP	A	TCGA-W5-AA39-01A-11D-A417-09	15290464	123200253	32070307	931	4078											
ODZ1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	123805577	123805577	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:123805577T>G	ENST00000371130.3	-	6	1187	c.1124A>C	c.(1123-1125)tAc>tCc	p.Y375S	TENM1_ENST00000422452.2_Missense_Mutation_p.Y375S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	375					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)										AATTGGAGAGTAAGTAGTGTC	0.408																																					p.Y375S		.											.	.	.	0			c.A1124C						.						180	157	165					X																	123805577		2203	4300	6503	SO:0001583	missense	10178	exon6			GGAGAGTAAGTAG	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.1124A>C	X.37:g.123805577T>G	ENSP00000360171:p.Tyr375Ser	58	0		35	30	NM_001163278	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367523	0.24771	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.27402	1.67;1.67	5.97	5.97	0.96955	.	0.321148	0.29631	N	0.011612	T	0.16300	0.0392	N	0.11427	0.14	0.43304	D	0.995305	B;B;B	0.22604	0.003;0.008;0.072	B;B;B	0.18871	0.002;0.002;0.023	T	0.15350	-1.0440	10	0.20519	T	0.43	.	10.5658	0.45171	0.1459:0.0:0.0:0.8541	.	374;375;375	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	375	ENSP00000360171:Y375S;ENSP00000403954:Y375S	ENSP00000360171:Y375S	Y	-	2	0	ODZ1	123633258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.983000	0.49345	1.999000	0.58509	0.481000	0.45027	TAC	.		0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	123805577	T	G	123805577	3	3	24	1	0	0	0	0	1	0	0	0	10873	1638	57	4	7182	4	ODZ1	23	123805577	Missense_Mutation	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	605324	123805577	31464983	932	4079											
OCRL	4952	hgsc.bcm.edu;broad.mit.edu	37	X	128724136	128724136	+	Silent	SNP	T	T	G			TCGA-W5-AA39-01A-11D-A417-09	TCGA-W5-AA39-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ad952427-a9f6-4d9e-9f93-1145909c4a7a	6aa737b3-0e89-415b-b64f-2a66b3a847fc	g.chrX:128724136T>G	ENST00000371113.4	+	24	2760	c.2595T>G	c.(2593-2595)acT>acG	p.T865T	OCRL_ENST00000357121.5_Silent_p.T857T	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	865	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						CTCTCTTCACTAGTCTTCTCC	0.532																																					p.T865T		.											.	.	.	0			c.T2595G						.						212	196	201					X																	128724136		2203	4300	6503	SO:0001819	synonymous_variant	4952	exon24			CTTCACTAGTCTT	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.2595T>G	X.37:g.128724136T>G		13	0		9	8	NM_000276	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	CCDS35393.1																																																																																			.		0.532	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		G	128724136	T	G	128724136	2	3	24	1	0	0	0	0	0	0	0	1	10862	1509	53	4		4	OCRL	23	128724136	Silent	SNP	T	TCGA-W5-AA39-01A-11D-A417-09	4918559	128724136	26546424	933	4080											
ACAP3	116983	hgsc.bcm.edu	37	1	1237394	1237394	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:1237394C>T	ENST00000354700.5	-	5	514	c.312G>A	c.(310-312)cgG>cgA	p.R104R	ACAP3_ENST00000353662.3_Silent_p.R62R	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R104R(1)|p.R62R(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGCTGCTGCCGCACGGACC	0.652																																					p.R104R		.											ACAP3_ENST00000354700,NS,carcinoma,0,2	ACAP3_ENST00000354700	0	2	Substitution - coding silent(2)	lung(2)	c.G312A						.						47	53	51					1																	1237394		2198	4295	6493	SO:0001819	synonymous_variant	116983	exon5			CTGCTGCCGCACG	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.312G>A	1.37:g.1237394C>T		32	1		44	2	NM_030649	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																			.		0.652	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		T	1237394	C	T	1237394	2	4	25	1	0	0	0	0	0	0	0	1	120	726	26	3		3	ACAP3	1	1237394	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09		1237394	248013227	1	4081											
PRAMEF12	390999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	12835030	12835030	+	Missense_Mutation	SNP	C	C	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:12835030C>A	ENST00000357726.4	+	1	47	c.20C>A	c.(19-21)cCt>cAt	p.P7H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	7					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)		CAGGCCCCACCTAGACTCCTG	0.542																																					p.P7H		.											.	.	.	0			c.C20A						.						45	53	51					1																	12835030		2193	4299	6492	SO:0001583	missense	390999	exon1			CCCCACCTAGACT		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.20C>A	1.37:g.12835030C>A	ENSP00000350358:p.Pro7His	46	0		38	23	NM_001080830		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.955049	0.34471	.	.	ENSG00000116726	ENST00000357726	T	0.11169	2.8	2.68	0.576	0.17380	.	0.739872	0.11778	N	0.530441	T	0.28896	0.0717	M	0.79805	2.47	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.06499	-1.0823	10	0.72032	D	0.01	.	5.8762	0.18830	0.2065:0.3877:0.4058:0.0	.	7	O95522	PRA12_HUMAN	H	7	ENSP00000350358:P7H	ENSP00000350358:P7H	P	+	2	0	PRAMEF12	12757617	0.000000	0.05858	0.020000	0.16555	0.181000	0.23173	-0.095000	0.11077	0.141000	0.18875	0.195000	0.17529	CCT	.		0.542	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		A	12835030	C	A	12835030	3	1	25	1	0	0	0	0	1	0	0	0	12470	681	24	3	22	3	PRAMEF12	1	12835030	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	11597636	12835030	236415591	2	4082											
CAP1	10487	broad.mit.edu	37	1	40530008	40530008	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:40530008G>A	ENST00000372797.3	+	5	965	c.404G>A	c.(403-405)aGc>aAc	p.S135N	CAP1_ENST00000372802.1_Missense_Mutation_p.S134N|CAP1_ENST00000340450.3_Missense_Mutation_p.S134N|CAP1_ENST00000372798.1_Missense_Mutation_p.S134N|CAP1_ENST00000372792.2_Missense_Mutation_p.S135N|CAP1_ENST00000372805.3_Missense_Mutation_p.S135N	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					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.S135N(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-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;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGCTGTCAGCGAAAGTATC	0.512																																					p.S135N													CAP1,NS,carcinoma,0,1	CAP1	38	1	Substitution - Missense(1)	endometrium(1)	c.G404A						.						72	69	70					1																	40530008		1944	4130	6074	SO:0001583	missense	10487	exon5			CTGTCAGCGAAAG	L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.404G>A	1.37:g.40530008G>A	ENSP00000361883:p.Ser135Asn	64	1		53	5	NM_006367	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040033	0.93630	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000427843;ENST00000424977;ENST00000417287	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.39	5.39	0.77823	Adenylate cyclase-associated CAP, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	M	0.88377	2.95	0.80722	D	1	P;P	0.35944	0.529;0.529	P;P	0.46585	0.521;0.521	T	0.44360	-0.9333	10	0.66056	D	0.02	-14.0802	18.1414	0.89641	0.0:0.0:1.0:0.0	.	82;135	E7ENY9;Q01518	.;CAP1_HUMAN	N	135;134;135;135;135;135;135;112;134;134;135;134;135;135;135	ENSP00000361883:S135N;ENSP00000361888:S134N;ENSP00000398475:S135N;ENSP00000403198:S135N;ENSP00000408561:S135N;ENSP00000410586:S135N;ENSP00000361878:S135N;ENSP00000361884:S134N;ENSP00000344832:S134N;ENSP00000361891:S135N;ENSP00000412859:S134N;ENSP00000413656:S135N;ENSP00000413383:S135N;ENSP00000400943:S135N	ENSP00000344832:S134N	S	+	2	0	CAP1	40302595	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.869000	0.99810	2.522000	0.85027	0.650000	0.86243	AGC	.		0.512	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1	NM_006367		A	40530008	G	A	40530008	3	1	25	1	0	0	0	0	1	0	0	0	2626	971	34	3	418	3	CAP1	1	40530008	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	27694978	40530008	208720613	3	4083											
HFM1	164045	hgsc.bcm.edu;bcgsc.ca	37	1	91726906	91726906	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:91726906G>T	ENST00000370425.3	-	39	4347	c.4249C>A	c.(4249-4251)Cct>Act	p.P1417T	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.P1096T|HFM1_ENST00000294696.5_3'UTR|Y_RNA_ENST00000384090.1_RNA	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1417					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCATCATCAGGATGATACATA	0.224																																					p.P1417T		.											.	.	.	0			c.C4249A						.						24	20	21					1																	91726906		1760	4005	5765	SO:0001583	missense	164045	exon39			CATCAGGATGATA	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4249C>A	1.37:g.91726906G>T	ENSP00000359454:p.Pro1417Thr	72	0		74	4	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	7.819	0.717393	0.15372	.	.	ENSG00000162669	ENST00000370425;ENST00000370424	T;T	0.64260	0.34;-0.09	5.36	-0.0398	0.13874	.	.	.	.	.	T	0.18551	0.0445	L	0.27053	0.805	0.80722	D	1	B	0.24186	0.099	B	0.22601	0.04	T	0.15809	-1.0424	9	0.07325	T	0.83	.	5.6121	0.17410	0.3884:0.139:0.4726:0.0	.	1417	A2PYH4	HFM1_HUMAN	T	1417;1096	ENSP00000359454:P1417T;ENSP00000359453:P1096T	ENSP00000359453:P1096T	P	-	1	0	HFM1	91499494	0.998000	0.40836	0.982000	0.44146	0.274000	0.26718	0.257000	0.18369	0.108000	0.17862	-0.182000	0.12963	CCT	.		0.224	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		T	91726906	G	T	91726906	3	4	25	1	0	0	0	0	1	0	0	0	7110	1174	41	3	62	3	HFM1	1	91726906	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	51196898	91726906	157523715	4	4084											
NOTCH2	4853	hgsc.bcm.edu	37	1	120539668	120539668	+	Missense_Mutation	SNP	T	T	A	rs200464440		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	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		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	NOTCH2_ENST00000369342,NS,carcinoma,0,2	NOTCH2_ENST00000369342	0	0			c.A703T						.						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	11	0		35	2	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	.		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	10587	1696	59	5	6836	5	NOTCH2	1	120539668	Missense_Mutation	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09	28812762	120539668	128710953	5	4085											
TCHH	7062	hgsc.bcm.edu	37	1	152084531	152084531	+	Missense_Mutation	SNP	G	G	C	rs530429479	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:152084531G>C	ENST00000368804.1	-	2	1161	c.1162C>G	c.(1162-1164)Cag>Gag	p.Q388E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	388	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				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)			cgcctcagctgctgctcgcgc	0.721													-|||	107	0.0213658	0.003	0.1023	5008	,	,		16197	0.0298		0.001	False		,,,				2504	0.001				p.Q388E		.											.	.	.	0			c.C1162G						.						2	4	3					1																	152084531		541	1723	2264	SO:0001583	missense	7062	exon3			TCAGCTGCTGCTC	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.1162C>G	1.37:g.152084531G>C	ENSP00000357794:p.Gln388Glu	10	0		25	6	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	5.805	0.332821	0.11013	.	.	ENSG00000159450	ENST00000368804	T	0.04275	3.66	3.35	-0.432	0.12291	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45571	-0.9252	9	0.02654	T	1	.	16.3773	0.83410	0.0:0.2058:0.7942:0.0	.	388	Q07283	TRHY_HUMAN	E	388	ENSP00000357794:Q388E	ENSP00000357794:Q388E	Q	-	1	0	TCHH	150351155	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.503000	0.00965	-0.501000	0.06605	-1.947000	0.00488	CAG	.		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152084531	G	C	152084531	3	2	25	1	0	0	0	0	1	0	0	0	15747	1328	46	5	4673	5	TCHH	1	152084531	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	31544863	152084531	97166090	6	4086											
LCE2B	26239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152659372	152659372	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:152659372C>T	ENST00000368780.3	+	2	107	c.53C>T	c.(52-54)cCc>cTc	p.P18L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P18L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	18	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)			p.P18H(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)			AAGTGTCCTCCCAAGTGTACC	0.517																																					p.P18L		.											LCE2B,NS,carcinoma,0,1	LCE2B	0	1	Substitution - Missense(1)	lung(1)	c.C53T						.						112	113	112					1																	152659372		2203	4300	6503	SO:0001583	missense	26239	exon2			GTCCTCCCAAGTG	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.53C>T	1.37:g.152659372C>T	ENSP00000357769:p.Pro18Leu	77	0		96	33	NM_014357	Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	7.324	0.617646	0.14129	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.06294	3.32;3.32	2.1	2.1	0.27182	.	.	.	.	.	T	0.12732	0.0309	M	0.83483	2.645	0.33005	D	0.526737	D	0.69078	0.997	D	0.68483	0.958	T	0.02059	-1.1221	9	0.87932	D	0	.	7.5681	0.27892	0.0:1.0:0.0:0.0	.	18	O14633	LCE2B_HUMAN	L	18	ENSP00000414043:P18L;ENSP00000357769:P18L	ENSP00000357769:P18L	P	+	2	0	LCE2B	150925996	0.631000	0.27164	0.956000	0.39512	0.705000	0.40729	1.682000	0.37628	1.154000	0.42482	0.313000	0.20887	CCC	.		0.517	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		T	152659372	C	T	152659372	3	4	25	1	0	0	0	0	1	0	0	0	8694	623	22	3	55	3	LCE2B	1	152659372	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	574841	152659372	96591249	7	4087											
C1orf129	80133	hgsc.bcm.edu	37	1	170941012	170941012	+	Missense_Mutation	SNP	C	C	T	rs377212983		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:170941012C>T	ENST00000367758.3	+	8	703	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	MROH9_ENST00000367759.4_Missense_Mutation_p.R202W	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	202																	CTACATTGCACGGTGTCAGAA	0.458																																					p.R202W		.											C1orf129_ENST00000367759,NS,carcinoma,0,2	C1orf129_ENST00000367759	0	0			c.C604T						.	C	TRP/ARG,TRP/ARG	1,3921		0,1,1960	279	248	258		604,604	1	0	1		258	1,8321		0,1,4160	no	missense,missense	C1orf129	NM_001163629.1,NM_025063.2	101,101	0,2,6120	TT,TC,CC		0.012,0.0255,0.0163	possibly-damaging,possibly-damaging	202/862,202/574	170941012	2,12242	1961	4161	6122	SO:0001583	missense	80133	exon8			ATTGCACGGTGTC	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.604C>T	1.37:g.170941012C>T	ENSP00000356732:p.Arg202Trp	20	0		27	2	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331558	0.24167	2.55E-4	1.2E-4	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.67865	-0.29;1.37	4.95	1.04	0.20106	.	0.841682	0.10402	N	0.679044	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	P;P	0.45078	0.618;0.85	B;B	0.24269	0.032;0.052	T	0.06409	-1.0828	10	0.62326	D	0.03	-4.2567	5.6842	0.17792	0.5043:0.3311:0.0:0.1646	.	202;202	F5GWX6;Q5TGP6	.;CA129_HUMAN	W	202	ENSP00000356733:R202W;ENSP00000356732:R202W	ENSP00000356732:R202W	R	+	1	2	C1orf129	169207636	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	0.709000	0.25734	-0.019000	0.14055	-0.266000	0.10368	CGG	.		0.458	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		T	170941012	C	T	170941012	3	4	25	1	0	0	0	0	1	0	0	0	2003	527	19	1	630	1	C1orf129	1	170941012	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	18281640	170941012	78309609	8	4088											
SMG7	9887	hgsc.bcm.edu;broad.mit.edu	37	1	183514431	183514431	+	Missense_Mutation	SNP	A	A	G			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr1:183514431A>G	ENST00000347615.2	+	16	2473	c.2354A>G	c.(2353-2355)cAc>cGc	p.H785R	SMG7_ENST00000508461.1_Missense_Mutation_p.H743R|SMG7_ENST00000507469.1_Missense_Mutation_p.H739R|SMG7_ENST00000515829.2_Missense_Mutation_p.H739R|SMG7_ENST00000367537.3_Missense_Mutation_p.H768R|SMG7_ENST00000456731.2_Missense_Mutation_p.H697R	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	785	Gln/Pro-rich.				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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCGCCTCACCACTCTGGATTC	0.458																																					p.H785R		.											.	.	.	0			c.A2354G						.						70	76	74					1																	183514431		2203	4300	6503	SO:0001583	missense	9887	exon16			CTCACCACTCTGG	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2354A>G	1.37:g.183514431A>G	ENSP00000340766:p.His785Arg	12	0		22	4	NM_173156	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792840	0.70452	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.69	5.69	0.88448	.	0.362376	0.32952	N	0.005448	T	0.57740	0.2074	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.63880	0.993;0.981;0.993;0.989;0.993;0.981	D;D;D;D;D;D	0.75020	0.977;0.966;0.977;0.985;0.977;0.966	T	0.60919	-0.7167	10	0.62326	D	0.03	-14.9073	15.6154	0.76764	1.0:0.0:0.0:0.0	.	743;768;697;739;785;739	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	R	697;768;743;697;785;739;739	ENSP00000407629:H697R;ENSP00000356507:H768R;ENSP00000426915:H743R;ENSP00000388390:H697R;ENSP00000340766:H785R;ENSP00000425133:H739R;ENSP00000421358:H739R	ENSP00000340766:H785R	H	+	2	0	SMG7	181781054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.454000	0.90352	2.162000	0.67917	0.533000	0.62120	CAC	.		0.458	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		G	183514431	A	G	183514431	3	3	25	1	0	0	0	0	1	0	0	0	14843	159	6	4	2416	4	SMG7	1	183514431	Missense_Mutation	SNP	A	TCGA-W6-AA0S-01A-11D-A417-09	12573419	183514431	65736190	9	4089											
LPIN1	23175	hgsc.bcm.edu	37	2	11943082	11943082	+	Missense_Mutation	SNP	C	C	A	rs4669781	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:11943082C>A	ENST00000256720.2	+	14	1921	c.1828C>A	c.(1828-1830)Cca>Aca	p.P610T	LPIN1_ENST00000404113.2_Missense_Mutation_p.P111T|LPIN1_ENST00000396097.1_Missense_Mutation_p.P340T|LPIN1_ENST00000425416.2_Missense_Mutation_p.P616T|LPIN1_ENST00000449576.2_Missense_Mutation_p.P695T|LPIN1_ENST00000396099.1_Missense_Mutation_p.P652T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	610			P -> S (in dbSNP:rs4669781). {ECO:0000269|PubMed:12111372}.		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)		AGCTGCCAAGCCATCAAACGC	0.537																																					p.P695T		.											LPIN1_ENST00000404113,NS,carcinoma,-2,1	LPIN1_ENST00000404113	-2	0			c.C2083A						.						182	160	167					2																	11943082		2203	4300	6503	SO:0001583	missense	23175	exon16			GCCAAGCCATCAA	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.1828C>A	2.37:g.11943082C>A	ENSP00000256720:p.Pro610Thr	16	0		30	2	NM_001261428	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	7.596	0.671746	0.14776	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80909	-1.43;-1.41;-1.4;-1.4;-1.24;-0.38;0.48	4.56	4.56	0.56223	.	0.053133	0.85682	D	0.000000	T	0.73853	0.3640	L	0.35644	1.08	0.36084	D	0.842985	B;B;B	0.31705	0.0;0.336;0.002	B;B;B	0.38500	0.007;0.275;0.008	T	0.73279	-0.4033	10	0.14656	T	0.56	-19.8574	13.5335	0.61635	0.1567:0.8433:0.0:0.0	.	111;695;610	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	T	695;652;616;610;340;111;137	ENSP00000397908:P695T;ENSP00000379406:P652T;ENSP00000401522:P616T;ENSP00000256720:P610T;ENSP00000379404:P340T;ENSP00000386120:P111T;ENSP00000413714:P137T	ENSP00000256720:P610T	P	+	1	0	LPIN1	11860533	1.000000	0.71417	0.984000	0.44739	0.046000	0.14306	2.155000	0.42301	2.240000	0.73641	0.462000	0.41574	CCA	.		0.537	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11943082	C	A	11943082	3	1	25	1	0	0	0	0	1	0	0	0	8953	739	26	3	1878	3	LPIN1	2	11943082	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09		11943082	231256291	10	4090											
CEP68	23177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	65309725	65309725	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:65309725C>T	ENST00000377990.2	+	6	2363	c.2160C>T	c.(2158-2160)caC>caT	p.H720H	CEP68_ENST00000260569.4_Silent_p.H583H|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	720					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						TGGAGAGCCACGCAGATCGCC	0.498																																					p.H720H		.											CEP68,NS,carcinoma,0,1	CEP68	0	0			c.C2160T						.						165	152	157					2																	65309725		2203	4300	6503	SO:0001819	synonymous_variant	23177	exon6			GAGCCACGCAGAT	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.2160C>T	2.37:g.65309725C>T		30	0		27	16	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	CCDS1880.2																																																																																			.		0.498	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		T	65309725	C	T	65309725	2	4	25	1	0	0	0	0	0	0	0	1	3265	535	19	1		1	CEP68	2	65309725	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	53366643	65309725	177889648	11	4091											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	141660609	141660609	+	Missense_Mutation	SNP	C	C	G			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:141660609C>G	ENST00000389484.3	-	23	4617	c.3646G>C	c.(3646-3648)Gat>Cat	p.D1216H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1216	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)		CTACAATAATCCACAATTTCA	0.433										TSP Lung(27;0.18)																											p.D1216H	Colon(99;50 2074 2507 20106)	.											.	.	.	0			c.G3646C						.						184	163	170					2																	141660609		2203	4300	6503	SO:0001583	missense	53353	exon23			AATAATCCACAAT	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.3646G>C	2.37:g.141660609C>G	ENSP00000374135:p.Asp1216His	20	0		47	15	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801151	0.70567	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.88277	-2.36;-2.36	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.947;0.998	D	0.93106	0.6512	10	0.25106	T	0.35	.	19.8389	0.96675	0.0:1.0:0.0:0.0	.	399;1216	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1216;1154;361	ENSP00000374135:D1216H;ENSP00000413239:D361H	ENSP00000374135:D1216H	D	-	1	0	LRP1B	141377079	1.000000	0.71417	0.984000	0.44739	0.508000	0.34012	4.881000	0.63114	2.755000	0.94549	0.650000	0.86243	GAT	.		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141660609	C	G	141660609	3	3	25	1	0	0	0	0	1	0	0	0	8990	855	30	5	10429	5	LRP1B	2	141660609	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	76350884	141660609	101538764	12	4092											
XIRP2	129446	hgsc.bcm.edu	37	2	168104508	168104508	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:168104508G>T	ENST00000409195.1	+	9	6695	c.6606G>T	c.(6604-6606)aaG>aaT	p.K2202N	XIRP2_ENST00000295237.9_Missense_Mutation_p.K2202N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1980N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2027					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						TAAAGAAAAAGAATATAAACC	0.353																																					p.K2202N		.											XIRP2,colon,carcinoma,0,1	XIRP2	0	0			c.G6606T						.						36	34	35					2																	168104508		1818	4075	5893	SO:0001583	missense	129446	exon9			GAAAAAGAATATA	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.6606G>T	2.37:g.168104508G>T	ENSP00000386840:p.Lys2202Asn	28	0		49	2	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	0.005	-2.200634	0.00296	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.22336	1.96;1.96;1.96	5.92	-4.28	0.03732	.	0.755817	0.12987	N	0.422788	T	0.07773	0.0195	N	0.14661	0.345	0.19575	N	0.999967	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.08055	0.001;0.003;0.003	T	0.36578	-0.9742	10	0.13853	T	0.58	-3.01	4.1761	0.10353	0.077:0.206:0.3995:0.3175	.	2027;2027;1980	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2202;2202;1980	ENSP00000386840:K2202N;ENSP00000295237:K2202N;ENSP00000387255:K1980N	ENSP00000295237:K2202N	K	+	3	2	XIRP2	167812754	0.001000	0.12720	0.007000	0.13788	0.005000	0.04900	-0.259000	0.08721	-0.621000	0.05633	-0.188000	0.12872	AAG	.		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168104508	G	T	168104508	3	4	25	1	0	0	0	0	1	0	0	0	17479	933	33	3	6636	3	XIRP2	2	168104508	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	26443899	168104508	75094865	13	4093											
C2orf77	129881	hgsc.bcm.edu	37	2	170510628	170510628	+	Missense_Mutation	SNP	G	G	T	rs530807316	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:170510628G>T	ENST00000447353.1	-	6	1021	c.916C>A	c.(916-918)Cgt>Agt	p.R306S		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	306																	TGTATAAGACGCTTTTTTGCT	0.323																																					p.R306S		.											.	.	.	0			c.C916A						.						133	115	121					2																	170510628		1812	4088	5900	SO:0001583	missense	129881	exon6			TAAGACGCTTTTT	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.916C>A	2.37:g.170510628G>T	ENSP00000391504:p.Arg306Ser	81	0		92	4	NM_001085447	Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361782	0.24684	.	.	ENSG00000154479	ENST00000447353	T	0.10288	2.89	5.04	0.98	0.19750	.	3.818340	0.00166	N	0.000001	T	0.14356	0.0347	M	0.65975	2.015	0.24973	N	0.99166	B	0.15141	0.012	B	0.23419	0.046	T	0.31503	-0.9941	10	0.33141	T	0.24	.	3.0791	0.06256	0.1773:0.1371:0.545:0.1406	.	306	Q0VFZ6	CB077_HUMAN	S	306	ENSP00000391504:R306S	ENSP00000391504:R306S	R	-	1	0	C2orf77	170218874	0.751000	0.28327	1.000000	0.80357	0.979000	0.70002	0.138000	0.16016	0.632000	0.30432	-0.961000	0.02630	CGT	.		0.323	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		T	170510628	G	T	170510628	3	4	25	1	0	0	0	0	1	0	0	0	2201	1087	38	2	758	2	C2orf77	2	170510628	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	2406120	170510628	72688745	14	4094											
MYO3B	140469	hgsc.bcm.edu;bcgsc.ca	37	2	171371510	171371510	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:171371510C>T	ENST00000408978.4	+	29	3593	c.3450C>T	c.(3448-3450)tgC>tgT	p.C1150C	MYO3B_ENST00000409044.3_Silent_p.C1123C|MYO3B_ENST00000334231.6_Silent_p.C1159C|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1150					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						TTCAAGACTGCAGCGAGCCTG	0.502																																					p.C1150C		.											.	.	.	0			c.C3450T						.						79	81	80					2																	171371510		1929	4137	6066	SO:0001819	synonymous_variant	140469	exon29			AGACTGCAGCGAG		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.3450C>T	2.37:g.171371510C>T		46	0		60	4	NM_138995	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																			.		0.502	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			T	171371510	C	T	171371510	2	4	25	1	0	0	0	0	0	0	0	1	10115	718	25	3		3	MYO3B	2	171371510	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	860882	171371510	71827863	15	4095											
SF3B1	23451	hgsc.bcm.edu	37	2	198273209	198273209	+	Missense_Mutation	SNP	C	C	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:198273209C>A	ENST00000335508.6	-	8	1092	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	334	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				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)			CCGTGATTTTCTTTTACTGGC	0.507			Mis		myelodysplastic syndrome																																p.R334I		.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	SF3B1,NS,carcinoma,0,1	SF3B1	0	0			c.G1001T						.						97	98	97					2																	198273209		2203	4300	6503	SO:0001583	missense	23451	exon8			GATTTTCTTTTAC	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.1001G>T	2.37:g.198273209C>A	ENSP00000335321:p.Arg334Ile	44	0		45	2	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319847	0.95682	.	.	ENSG00000115524	ENST00000335508	.	.	.	4.67	4.67	0.58626	Splicing factor 3B subunit 1 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.81497	2.545	0.80722	D	1	B	0.28760	0.221	B	0.42959	0.403	T	0.80086	-0.1529	9	0.87932	D	0	.	18.1137	0.89543	0.0:1.0:0.0:0.0	.	334	O75533	SF3B1_HUMAN	I	334	.	ENSP00000335321:R334I	R	-	2	0	SF3B1	197981454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.582000	0.87167	0.561000	0.74099	AGA	.		0.507	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			A	198273209	C	A	198273209	3	1	25	1	0	0	0	0	1	0	0	0	14194	913	32	3	2985	3	SF3B1	2	198273209	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	26901699	198273209	44926164	16	4096											
SP140L	93349	hgsc.bcm.edu	37	2	231256872	231256873	+	Frame_Shift_Ins	INS	-	-	G	rs200753310	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:231256872_231256873insG	ENST00000415673.2	+	12	1121_1122	c.1035_1036insG	c.(1036-1038)ggcfs	p.G346fs	SP140L_ENST00000396563.4_Frame_Shift_Ins_p.G311fs|SP140L_ENST00000444636.1_Frame_Shift_Ins_p.G346fs|SP140L_ENST00000243810.6_Frame_Shift_Ins_p.G346fs	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	346	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						AAATCAAAGGAGGCTACGCAAG	0.515																																					p.G345fs		.											.	.	.	0			c.1035_1036insG						.																																			SO:0001589	frameshift_variant	93349	exon12			CAAAGGAGGCTAC	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.1037dupG	2.37:g.231256874_231256874dupG	ENSP00000397911:p.Gly346fs	61	0		111	42	NM_138402	Q2M375|Q4ZG65|Q9BSP3	Frame_Shift_Ins	INS	ENST00000415673.2	37	CCDS46538.1																																																																																			.		0.515	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		G	231256873	-	G	231256872	7	5	25	1	0	1	1	0	0	0	0	0	15008	291	11	0	1081	0	SP140L	2	231256872	Frame_Shift_Ins	INS	-	TCGA-W6-AA0S-01A-11D-A417-09	32983663	231256872	11942501	17	4097											
AQP12B	653437	hgsc.bcm.edu	37	2	241621970	241621970	+	Silent	SNP	G	G	A	rs370087461		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr2:241621970G>A	ENST00000407834.3	-	1	347	c.285C>T	c.(283-285)acC>acT	p.T95T		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	83						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)		GCAGGGACACGGTGGGGTTGG	0.687																																					p.T95T		.											AQP12B,NS,carcinoma,0,1	AQP12B	0	0			c.C285T						.			0,4406		0,0,2203	52	53	53		285	-5.3	0	2	dbSNP_134	53	1,8599		0,1,4299	no	coding-synonymous	AQP12B	NM_001102467.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		95/308	241621970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	653437	exon1			GGACACGGTGGGG	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.285C>T	2.37:g.241621970G>A		46	1		68	5	NM_001102467	A4QPB9	Silent	SNP	ENST00000407834.3	37	CCDS46560.1																																																																																			.		0.687	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			A	241621970	G	A	241621970	2	1	25	1	0	0	0	0	0	0	0	1	825	1103	39	1		1	AQP12B	2	241621970	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	10365098	241621970	1577403	18	4098											
THOC7	80145	hgsc.bcm.edu	37	3	63825392	63825392	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr3:63825392C>T	ENST00000295899.5	-	2	189	c.77G>A	c.(76-78)aGa>aAa	p.R26K	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	26					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)		CAGATTAATTCTCCGATCATC	0.448																																					p.R26K	Colon(48;665 1127 6720 18651)	.											THOC7,NS,carcinoma,0,1	THOC7	0	0			c.G77A						.						104	95	98					3																	63825392		2203	4300	6503	SO:0001583	missense	80145	exon2			TTAATTCTCCGAT	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.77G>A	3.37:g.63825392C>T	ENSP00000295899:p.Arg26Lys	42	1		37	2	NM_025075	Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958274	0.97145	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76358	-0.2988	9	0.17832	T	0.49	-5.1792	20.1951	0.98241	0.0:1.0:0.0:0.0	.	26	Q6I9Y2	THOC7_HUMAN	K	26	.	ENSP00000295899:R26K	R	-	2	0	THOC7	63800432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.766000	0.85320	2.780000	0.95670	0.585000	0.79938	AGA	.		0.448	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		T	63825392	C	T	63825392	3	4	25	1	0	0	0	0	1	0	0	0	15917	913	32	3	565	3	THOC7	3	63825392	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09		63825392	134197038	19	4099											
GBE1	2632	hgsc.bcm.edu	37	3	81539564	81539564	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr3:81539564C>T	ENST00000429644.2	-	16	2746	c.2103G>A	c.(2101-2103)ccG>ccA	p.P701P	GBE1_ENST00000489715.1_Silent_p.P660P	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	701					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)		CTCTTCAATTCGGCAGATCCA	0.418									Glycogen Storage Disease, type IV																												p.P701P		.											GBE1_ENST00000429644,NS,carcinoma,0,2	GBE1_ENST00000429644	0	0			c.G2103A						.						138	128	131					3																	81539564		1933	4130	6063	SO:0001819	synonymous_variant	2632	exon16	Familial Cancer Database	Andersen Disease, Brancher deficiency	TCAATTCGGCAGA		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.2103G>A	3.37:g.81539564C>T		30	0		26	2	NM_000158	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																			.		0.418	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			T	81539564	C	T	81539564	2	4	25	1	0	0	0	0	0	0	0	1	6295	871	31	1		1	GBE1	3	81539564	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	17714172	81539564	116482866	20	4100											
TFG	10342	hgsc.bcm.edu	37	3	100467371	100467371	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr3:100467371G>T	ENST00000240851.4	+	8	1539	c.1199G>T	c.(1198-1200)cGa>cTa	p.R400L	TFG_ENST00000418917.2_Missense_Mutation_p.R396L|TFG_ENST00000476228.1_Missense_Mutation_p.R396L|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Missense_Mutation_p.R400L	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	400					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						CCTGGTTATCGATAAGGAGGC	0.468			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																p.R400L		.		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	TFG_ENST00000240851,colon,carcinoma,0,1	TFG_ENST00000240851	0	0			c.G1199T						.						55	51	52					3																	100467371		2202	4297	6499	SO:0001583	missense	10342	exon8			GTTATCGATAAGG	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.1199G>T	3.37:g.100467371G>T	ENSP00000240851:p.Arg400Leu	24	0		39	2	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077600	0.76528	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	T;T;T;T	0.59906	0.23;0.25;0.25;0.23	6.16	5.28	0.74379	.	0.062835	0.64402	D	0.000004	T	0.50188	0.1601	N	0.19112	0.55	0.80722	D	1	P;P	0.42620	0.785;0.68	B;B	0.43508	0.422;0.241	T	0.56974	-0.7890	10	0.72032	D	0.01	.	17.5775	0.87955	0.0:0.1235:0.8765:0.0	.	396;400	G5E9V1;Q92734	.;TFG_HUMAN	L	396;400;400;396	ENSP00000397182:R396L;ENSP00000419960:R400L;ENSP00000240851:R400L;ENSP00000417952:R396L	ENSP00000240851:R400L	R	+	2	0	TFG	101950061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.947000	0.93000	1.600000	0.50102	0.650000	0.86243	CGA	.		0.468	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		T	100467371	G	T	100467371	3	4	25	1	0	0	0	0	1	0	0	0	15853	1058	37	2	1225	2	TFG	3	100467371	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	18927807	100467371	97555059	21	4101											
CCDC52	152185	hgsc.bcm.edu	37	3	113187725	113187725	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr3:113187725G>A	ENST00000295872.4	-	9	1032	c.773C>T	c.(772-774)gCt>gTt	p.A258V		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	258					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCTCTTGACAGCATTGGTAGC	0.413																																					p.A258V		.											SPICE1_ENST00000295872,rectum,carcinoma,0,2	SPICE1_ENST00000295872	0	0			c.C773T						.						88	79	82					3																	113187725		2203	4300	6503	SO:0001583	missense	152185	exon9			TTGACAGCATTGG	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.773C>T	3.37:g.113187725G>A	ENSP00000295872:p.Ala258Val	42	0		45	2	NM_144718	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433986	0.25813	.	.	ENSG00000163611	ENST00000295872	T	0.32515	1.45	5.05	3.24	0.37175	.	0.289600	0.37906	N	0.001898	T	0.17323	0.0416	L	0.33245	0.995	0.41048	D	0.985286	P;P	0.41393	0.748;0.506	B;B	0.36134	0.218;0.218	T	0.04268	-1.0964	10	0.23891	T	0.37	-8.2206	5.4437	0.16523	0.3329:0.0:0.6671:0.0	.	154;258	B3KX77;Q8N0Z3	.;SPICE_HUMAN	V	258	ENSP00000295872:A258V	ENSP00000295872:A258V	A	-	2	0	SPICE1	114670415	0.995000	0.38212	0.996000	0.52242	0.045000	0.14185	2.968000	0.49224	1.263000	0.44181	-0.218000	0.12543	GCT	.		0.413	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		A	113187725	G	A	113187725	3	1	25	1	0	0	0	0	1	0	0	0	2829	971	34	3	1834	3	CCDC52	3	113187725	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	12720354	113187725	84834705	22	4102											
ZBBX	79740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	167023497	167023497	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr3:167023497G>T	ENST00000392766.2	-	17	1999	c.1659C>A	c.(1657-1659)tcC>tcA	p.S553S	ZBBX_ENST00000392767.2_Silent_p.S553S|ZBBX_ENST00000307529.5_Silent_p.S553S|ZBBX_ENST00000455345.2_Silent_p.S553S|ZBBX_ENST00000392764.1_Silent_p.S524S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	553						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						TCAATTCCAAGGATTCTTTGA	0.328																																					p.S553S		.											.	.	.	0			c.C1659A						.						72	64	67					3																	167023497		1810	4065	5875	SO:0001819	synonymous_variant	79740	exon17			TTCCAAGGATTCT	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.1659C>A	3.37:g.167023497G>T		51	0		109	48	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																			.		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		T	167023497	G	T	167023497	2	4	25	1	0	0	0	0	0	0	0	1	17565	987	35	3		3	ZBBX	3	167023497	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	53835772	167023497	30998933	23	4103											
NLGN1	22871	hgsc.bcm.edu	37	3	173322868	173322868	+	Silent	SNP	C	C	T	rs151237969		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr3:173322868C>T	ENST00000457714.1	+	3	909	c.480C>T	c.(478-480)gtC>gtT	p.V160V	NLGN1_ENST00000545397.1_Silent_p.V160V|NLGN1_ENST00000401917.3_Silent_p.V160V|NLGN1_ENST00000361589.4_Silent_p.V160V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	160					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)	p.V160V(1)		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)			ATATATATGTCCCGACTGAGG	0.343																																					p.V160V		.											NLGN1,shoulder,malignant_melanoma,0,1	NLGN1	0	1	Substitution - coding silent(1)	skin(1)	c.C480T						.						74	78	77					3																	173322868		2203	4300	6503	SO:0001819	synonymous_variant	22871	exon3			ATATGTCCCGACT	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.480C>T	3.37:g.173322868C>T		11	0		26	2	NM_014932	Q9UPT2	Silent	SNP	ENST00000457714.1	37	CCDS3222.1																																																																																			.		0.343	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		T	173322868	C	T	173322868	2	4	25	1	0	0	0	0	0	0	0	1	10500	842	30	3		3	NLGN1	3	173322868	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	6299371	173322868	24699562	24	4104											
NLGN1	22871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	173999084	173999084	+	Silent	SNP	C	C	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr3:173999084C>A	ENST00000457714.1	+	7	2892	c.2463C>A	c.(2461-2463)acC>acA	p.T821T	NLGN1_ENST00000545397.1_Silent_p.T821T|NLGN1_ENST00000401917.3_Silent_p.T861T|NLGN1_ENST00000361589.4_Silent_p.T821T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	838					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)			ATTCAACAACCAGGGTATAGC	0.418																																					p.T821T		.											.	.	.	0			c.C2463A						.						44	43	43					3																	173999084		2203	4300	6503	SO:0001819	synonymous_variant	22871	exon7			AACAACCAGGGTA	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.2463C>A	3.37:g.173999084C>A		40	0		87	22	NM_014932	Q9UPT2	Silent	SNP	ENST00000457714.1	37	CCDS3222.1																																																																																			.		0.418	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		A	173999084	C	A	173999084	2	1	25	1	0	0	0	0	0	0	0	1	10500	581	21	3		3	NLGN1	3	173999084	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	676216	173999084	24023346	25	4105											
EXOC1	55763	hgsc.bcm.edu	37	4	56756490	56756490	+	Missense_Mutation	SNP	T	T	G			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr4:56756490T>G	ENST00000381295.2	+	12	1825	c.1477T>G	c.(1477-1479)Ttg>Gtg	p.L493V	EXOC1_ENST00000346134.7_Missense_Mutation_p.L493V|EXOC1_ENST00000349598.6_Missense_Mutation_p.L478V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	493					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)					ATCTTCCCTGTTGGATATGGG	0.388																																					p.L493V		.											.	.	.	0			c.T1477G						.						163	146	152					4																	56756490		2203	4300	6503	SO:0001583	missense	55763	exon12			TCCCTGTTGGATA	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.1477T>G	4.37:g.56756490T>G	ENSP00000370695:p.Leu493Val	49	0		53	15	NM_018261	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888621	0.52014	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.45	-1.12	0.09808	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.51422	1.61	0.54753	D	0.999989	D;P	0.56035	0.974;0.948	D;P	0.70487	0.969;0.718	T	0.57470	-0.7806	9	0.24483	T	0.36	.	11.5936	0.50959	0.0:0.4307:0.0:0.5693	.	478;493	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	V	493;493;478	.	ENSP00000326514:L493V	L	+	1	2	EXOC1	56451247	0.998000	0.40836	0.986000	0.45419	0.948000	0.59901	0.522000	0.22909	-0.412000	0.07519	-1.179000	0.01719	TTG	.		0.388	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		G	56756490	T	G	56756490	3	3	25	1	0	0	0	0	1	0	0	0	5317	1722	60	4	1519	4	EXOC1	4	56756490	Missense_Mutation	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09		56756490	134397786	26	4106											
PCDHGA9	56107	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140783658	140783658	+	Missense_Mutation	SNP	G	G	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr5:140783658G>C	ENST00000573521.1	+	1	1139	c.1139G>C	c.(1138-1140)gGt>gCt	p.G380A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	380	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)			GGGAAGAATGGTCAAGTTGTC	0.413																																					p.G380A													.	PCDHGA9	110	0			c.G1139C						.						38	38	38					5																	140783658		1913	4135	6048	SO:0001583	missense	0	exon1			AGAATGGTCAAGT	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.1139G>C	5.37:g.140783658G>C	ENSP00000460274:p.Gly380Ala	37	1		56	17	NM_032089	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			.		0.413	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		C	140783658	G	C	140783658	3	2	25	1	0	0	0	0	1	0	0	0	11600	1261	44	5	1141	5	PCDHGA9	5	140783658	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		140783658	40131602	27	4107											
JAKMIP2	9832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	147029994	147029994	+	Silent	SNP	G	G	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr5:147029994G>C	ENST00000265272.5	-	4	1211	c.744C>G	c.(742-744)ctC>ctG	p.L248L	JAKMIP2_ENST00000333010.6_Silent_p.L206L|JAKMIP2_ENST00000507386.1_Silent_p.L248L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	248						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)			TGACCAGAAAGAGTTGTTCGT	0.502																																					p.L248L		.											.	.	.	0			c.C744G						.						145	132	136					5																	147029994		2203	4300	6503	SO:0001819	synonymous_variant	9832	exon4			CAGAAAGAGTTGT	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.744C>G	5.37:g.147029994G>C		47	0		92	41	NM_001270941	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	CCDS4285.1																																																																																			.		0.502	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		C	147029994	G	C	147029994	2	2	25	1	0	0	0	0	0	0	0	1	7968	929	33	5		5	JAKMIP2	5	147029994	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	6246336	147029994	33885266	28	4108											
JAKMIP2	9832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	147040819	147040819	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr5:147040819G>A	ENST00000265272.5	-	3	786	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65C|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107C	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	107						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)			TCTCCATCACGTACCTTCACC	0.557																																					p.R107C		.											.	.	.	0			c.C319T						.						187	176	180					5																	147040819		2203	4300	6503	SO:0001583	missense	9832	exon3			CATCACGTACCTT	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.319C>T	5.37:g.147040819G>A	ENSP00000265272:p.Arg107Cys	14	0		16	5	NM_001270941	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792878	0.31685	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35973	1.28;1.28;1.28	4.67	3.71	0.42584	.	0.059973	0.64402	D	0.000003	T	0.30448	0.0765	N	0.24115	0.695	0.50313	D	0.999865	D;D;D;D	0.67145	0.987;0.996;0.996;0.993	B;P;P;P	0.47744	0.432;0.556;0.556;0.556	T	0.12811	-1.0533	10	0.87932	D	0	.	12.4034	0.55426	0.0:0.0:0.6863:0.3137	.	65;107;107;107	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	C	107;107;65;107	ENSP00000421398:R107C;ENSP00000265272:R107C;ENSP00000328989:R65C	ENSP00000265272:R107C	R	-	1	0	JAKMIP2	147021012	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	4.826000	0.62715	2.529000	0.85273	0.563000	0.77884	CGT	.		0.557	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		A	147040819	G	A	147040819	3	1	25	1	0	0	0	0	1	0	0	0	7968	1145	40	1	2189	1	JAKMIP2	5	147040819	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	10825	147040819	33874441	29	4109											
ZKSCAN3	80317	hgsc.bcm.edu	37	6	28333606	28333606	+	Silent	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr6:28333606G>A	ENST00000377255.3	+	7	1458	c.1161G>A	c.(1159-1161)aaG>aaA	p.K387K	ZKSCAN3_ENST00000341464.5_Silent_p.K239K|ZKSCAN3_ENST00000252211.2_Silent_p.K387K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	387					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						ACCTTATCAAGCATCAGAGAA	0.502																																					p.K387K		.											.	.	.	0			c.G1161A						.						93	92	93					6																	28333606		2203	4300	6503	SO:0001819	synonymous_variant	80317	exon6			TATCAAGCATCAG	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.1161G>A	6.37:g.28333606G>A		29	0		35	4	NM_024493	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	CCDS4650.1																																																																																			.		0.502	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		A	28333606	G	A	28333606	2	1	25	1	0	0	0	0	0	0	0	1	17736	962	34	3		3	ZKSCAN3	6	28333606	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		28333606	142781461	30	4110											
BRD2	6046	hgsc.bcm.edu	37	6	32945611	32945612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr6:32945611_32945612insC	ENST00000374825.4	+	9	3108_3109	c.1407_1408insC	c.(1408-1410)cccfs	p.P470fs	BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P470fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P470fs|BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P470fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P423fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P350fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	470					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						CTACTGCCATGCCCCCTGGCTT	0.51																																					p.M469fs		.											.	.	.	0			c.1407_1408insC						.																																			SO:0001589	frameshift_variant	6046	exon9			TGCCATGCCCCCT	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.1412dupC	6.37:g.32945616_32945616dupC	ENSP00000363958:p.Pro470fs	24	0		18	12	NM_001113182	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	CCDS4762.1																																																																																			.		0.51	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			C	32945612	-	C	32945611	7	5	25	1	0	1	1	0	0	0	0	0	1506	1319	46	0	1437	0	BRD2	6	32945611	Frame_Shift_Ins	INS	-	TCGA-W6-AA0S-01A-11D-A417-09	4612005	32945611	138169456	31	4111											
ITPR3	3710	hgsc.bcm.edu	37	6	33661448	33661448	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr6:33661448C>T	ENST00000374316.5	+	57	8811	c.7751C>T	c.(7750-7752)aCg>aTg	p.T2584M	ITPR3_ENST00000605930.1_Missense_Mutation_p.T2584M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2584					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)	ACCGACTACACGGGCCCTGAG	0.537																																					p.T2584M		.											ITPR3_ENST00000374316,NS,adenocarcinoma,0,2	ITPR3_ENST00000374316	0	0			c.C7751T						.						117	93	101					6																	33661448		2203	4300	6503	SO:0001583	missense	3710	exon56			ACTACACGGGCCC	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.7751C>T	6.37:g.33661448C>T	ENSP00000363435:p.Thr2584Met	34	0		39	2	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744345	0.89663	.	.	ENSG00000096433	ENST00000374316	T	0.45276	0.9	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82991	-0.0182	10	0.87932	D	0	-25.5971	19.1089	0.93309	0.0:1.0:0.0:0.0	.	2584;2254	Q14573;Q59ES2	ITPR3_HUMAN;.	M	2584	ENSP00000363435:T2584M	ENSP00000363435:T2584M	T	+	2	0	ITPR3	33769426	1.000000	0.71417	0.955000	0.39395	0.633000	0.38033	7.818000	0.86416	2.527000	0.85204	0.462000	0.41574	ACG	.		0.537	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33661448	C	T	33661448	3	4	25	1	0	0	0	0	1	0	0	0	7949	536	19	1	7973	1	ITPR3	6	33661448	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	715837	33661448	137453619	32	4112											
KCNQ5	56479	hgsc.bcm.edu	37	6	73834220	73834220	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr6:73834220G>T	ENST00000370398.1	+	9	1341	c.1232G>T	c.(1231-1233)gGg>gTg	p.G411V	KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G411V|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G411V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.G411V|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G411V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	411					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AAAGAACAAGGGGAAGCATCA	0.383																																					p.G411V	GBM(142;1375 1859 14391 23261 44706)	.											KCNQ5,NS,malignant_melanoma,0,1	KCNQ5	0	0			c.G1232T						.						182	166	172					6																	73834220		2203	4300	6503	SO:0001583	missense	56479	exon9			AACAAGGGGAAGC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1232G>T	6.37:g.73834220G>T	ENSP00000359425:p.Gly411Val	24	0		37	2	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043799	0.55003	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000414165	D;D;D;D;D	0.99270	-5.6;-5.6;-5.6;-5.41;-5.66	5.44	5.44	0.79542	.	7739.210000	0.00166	N	0.000000	D	0.98356	0.9454	L	0.47716	1.5	0.80722	D	1	B;B;B;P	0.50617	0.111;0.015;0.134;0.937	B;B;B;P	0.47915	0.041;0.011;0.034;0.561	D	0.90114	0.4194	10	0.17832	T	0.49	.	19.6178	0.95640	0.0:0.0:1.0:0.0	.	411;411;411;411	F5GZV0;A6PVT6;Q9NR82;Q9NR82-4	.;.;KCNQ5_HUMAN;.	V	411	ENSP00000345055:G411V;ENSP00000347326:G411V;ENSP00000359425:G411V;ENSP00000359419:G411V;ENSP00000409861:G411V	ENSP00000345055:G411V	G	+	2	0	KCNQ5	73890941	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.539000	0.90637	2.709000	0.92574	0.655000	0.94253	GGG	.		0.383	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73834220	G	T	73834220	3	4	25	1	0	0	0	0	1	0	0	0	8113	1232	43	3	1266	3	KCNQ5	6	73834220	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	40172772	73834220	97280847	33	4113											
MTO1	25821	bcgsc.ca	37	6	74176311	74176311	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr6:74176311G>T	ENST00000370300.4	+	3	607	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F	MTO1_ENST00000498286.1_Missense_Mutation_p.V173F|MTO1_ENST00000415954.2_Missense_Mutation_p.V173F|MTO1_ENST00000370305.1_Missense_Mutation_p.V99F|MTO1_ENST00000518210.1_3'UTR|RNU6-975P_ENST00000384296.1_RNA	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	173					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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GAAATGCCGTGTCAGTGGGGT	0.403																																					p.V173F													.	MTO1	59	0			c.G517T						.						160	141	148					6																	74176311		2203	4300	6503	SO:0001583	missense	25821	exon3			TGCCGTGTCAGTG	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.517G>T	6.37:g.74176311G>T	ENSP00000359323:p.Val173Phe	51	0		52	4	NM_133645	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789589	0.90367	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.68	5.68	0.88126	.	0.123536	0.56097	D	0.000040	D	0.83115	0.5184	M	0.83312	2.635	0.58432	D	0.999999	P;P;P	0.44877	0.845;0.534;0.785	P;P;P	0.57057	0.805;0.715;0.812	T	0.81998	-0.0675	10	0.02654	T	1	-11.7518	18.3213	0.90239	0.0:0.0:1.0:0.0	.	173;173;173	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	F	173;173;173;99;173	ENSP00000402038:V173F;ENSP00000419561:V173F;ENSP00000359328:V99F;ENSP00000359323:V173F	ENSP00000350506:V173F	V	+	1	0	MTO1	74233032	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	8.060000	0.89464	2.838000	0.97847	0.585000	0.79938	GTC	.		0.403	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		T	74176311	G	T	74176311	3	4	25	1	0	0	0	0	1	0	0	0	9991	1377	48	3	527	3	MTO1	6	74176311	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	342091	74176311	96938756	34	4114											
LAMA4	3910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	112450203	112450203	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr6:112450203G>T	ENST00000230538.7	-	31	4605	c.4208C>A	c.(4207-4209)cCc>cAc	p.P1403H	LAMA4_ENST00000389463.4_Missense_Mutation_p.P1396H|LAMA4_ENST00000424408.2_Missense_Mutation_p.P1396H|LAMA4_ENST00000522006.1_Missense_Mutation_p.P1396H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1403					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)		AGACTCAATGGGACACTCATA	0.373																																					p.P1403H		.											.	.	.	0			c.C4208A						.						109	105	106					6																	112450203		2203	4300	6503	SO:0001583	missense	3910	exon31			TCAATGGGACACT		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.4208C>A	6.37:g.112450203G>T	ENSP00000230538:p.Pro1403His	55	0		50	29	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671785	0.88348	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.14144	2.54;2.53;2.53;2.53	5.59	5.59	0.84812	.	0.048249	0.85682	D	0.000000	T	0.20618	0.0496	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.01484	-1.1343	10	0.40728	T	0.16	.	19.5844	0.95485	0.0:0.0:1.0:0.0	.	1403;1396	Q16363;Q16363-2	LAMA4_HUMAN;.	H	1403;1396;1396;1396	ENSP00000230538:P1403H;ENSP00000429488:P1396H;ENSP00000374114:P1396H;ENSP00000416470:P1396H	ENSP00000230538:P1403H	P	-	2	0	LAMA4	112556896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.188000	0.89710	2.638000	0.89438	0.585000	0.79938	CCC	.		0.373	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		T	112450203	G	T	112450203	3	4	25	1	0	0	0	0	1	0	0	0	8636	1232	43	3	1299	3	LAMA4	6	112450203	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	38273892	112450203	58664864	35	4115											
TAAR8	83551	hgsc.bcm.edu	37	6	132874213	132874213	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr6:132874213G>T	ENST00000275200.1	+	1	382	c.382G>T	c.(382-384)Gac>Tac	p.D128Y		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	128					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)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CATCTGCATCGACAGGTACAT	0.478																																					p.D128Y		.											TAAR8,colon,carcinoma,0,1	TAAR8	0	0			c.G382T						.						347	304	319					6																	132874213		2203	4300	6503	SO:0001583	missense	83551	exon1			TGCATCGACAGGT	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.382G>T	6.37:g.132874213G>T	ENSP00000275200:p.Asp128Tyr	28	0		30	2	NM_053278	Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603324	0.46423	.	.	ENSG00000146385	ENST00000275200	D	0.85861	-2.04	4.72	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	D	0.95532	0.8548	H	0.99867	4.865	0.45962	D	0.99878	D	0.89917	1.0	D	0.91635	0.999	D	0.96923	0.9675	10	0.87932	D	0	-17.0667	13.4605	0.61225	0.0763:0.0:0.9237:0.0	.	128	Q969N4	TAAR8_HUMAN	Y	128	ENSP00000275200:D128Y	ENSP00000275200:D128Y	D	+	1	0	TAAR8	132915906	1.000000	0.71417	0.897000	0.35233	0.228000	0.25075	5.548000	0.67255	1.329000	0.45376	0.655000	0.94253	GAC	.		0.478	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		T	132874213	G	T	132874213	3	4	25	1	0	0	0	0	1	0	0	0	15540	1058	37	2	384	2	TAAR8	6	132874213	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	20424010	132874213	38240854	36	4116											
OSBPL3	26031	hgsc.bcm.edu	37	7	24849546	24849546	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:24849546G>T	ENST00000313367.2	-	20	2648	c.2197C>A	c.(2197-2199)Cat>Aat	p.H733N	OSBPL3_ENST00000353930.1_Missense_Mutation_p.H697N|OSBPL3_ENST00000409069.1_Missense_Mutation_p.H666N|OSBPL3_ENST00000396429.1_Missense_Mutation_p.H697N|OSBPL3_ENST00000431825.2_Missense_Mutation_p.H666N|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000396431.1_Missense_Mutation_p.H702N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.H702N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	733					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)	p.H733N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCAATCTCATGGGCATTAGTG	0.438																																					p.H733N		.											OSBPL3,NS,malignant_melanoma,0,1	OSBPL3	0	1	Substitution - Missense(1)	lung(1)	c.C2197A						.						212	186	194					7																	24849546		2203	4300	6503	SO:0001583	missense	26031	exon20			TCTCATGGGCATT	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.2197C>A	7.37:g.24849546G>T	ENSP00000315410:p.His733Asn	31	0		44	2	NM_015550	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.375085	0.11409	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.25	5.25	0.73442	.	0.200391	0.52532	D	0.000077	T	0.16300	0.0392	N	0.12831	0.26	0.44843	D	0.997851	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;0.001	T	0.09662	-1.0664	10	0.12103	T	0.63	-13.1469	19.2157	0.93776	0.0:0.0:1.0:0.0	.	666;702;697;733	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	N	733;702;697;666;702;697;666	ENSP00000315410:H733N;ENSP00000315331:H702N;ENSP00000315277:H697N;ENSP00000389779:H666N;ENSP00000379708:H702N;ENSP00000379706:H697N;ENSP00000386953:H666N	ENSP00000315410:H733N	H	-	1	0	OSBPL3	24816071	1.000000	0.71417	0.645000	0.29479	0.963000	0.63663	6.972000	0.76110	2.610000	0.88304	0.557000	0.71058	CAT	.		0.438	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			T	24849546	G	T	24849546	3	4	25	1	0	0	0	0	1	0	0	0	11318	1348	47	3	482	3	OSBPL3	7	24849546	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		24849546	134289117	37	4117											
SAMD9	54809	hgsc.bcm.edu	37	7	92734778	92734778	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:92734778G>T	ENST00000379958.2	-	3	902	c.633C>A	c.(631-633)gtC>gtA	p.V211V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	211						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			ATTTCATCTTGACATCCTCTT	0.403																																					p.V211V		.											.	.	.	0			c.C633A						.						132	126	128					7																	92734778		2203	4300	6503	SO:0001819	synonymous_variant	54809	exon2			CATCTTGACATCC	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.633C>A	7.37:g.92734778G>T		45	0		77	4	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																			.		0.403	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92734778	G	T	92734778	2	4	25	1	0	0	0	0	0	0	0	1	13871	1277	45	3		3	SAMD9	7	92734778	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	67885232	92734778	66403885	38	4118											
ASNS	440	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	97487633	97487633	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:97487633G>T	ENST00000394309.3	-	7	1331	c.860C>A	c.(859-861)gCa>gAa	p.A287E	ASNS_ENST00000455086.1_Missense_Mutation_p.A204E|ASNS_ENST00000444334.1_Missense_Mutation_p.A266E|ASNS_ENST00000175506.4_Missense_Mutation_p.A287E|ASNS_ENST00000422745.1_Missense_Mutation_p.A266E|ASNS_ENST00000394308.3_Missense_Mutation_p.A287E|ASNS_ENST00000437628.1_Missense_Mutation_p.A204E	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	287	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CATGCCAATTGCAAATGTCTG	0.478																																					p.A287E	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	.											.	.	.	0			c.C860A						.						94	81	85					7																	97487633		2203	4300	6503	SO:0001583	missense	440	exon7			CCAATTGCAAATG	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.860C>A	7.37:g.97487633G>T	ENSP00000377846:p.Ala287Glu	21	0		26	4	NM_133436	A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957408	0.92726	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.37	4.37	0.52481	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.110120	0.64402	D	0.000007	T	0.67429	0.2892	M	0.91406	3.205	0.58432	D	0.999995	D	0.52996	0.957	P	0.58660	0.843	T	0.76911	-0.2784	10	0.87932	D	0	-15.7215	15.2408	0.73468	0.0:0.0:1.0:0.0	.	287	P08243	ASNS_HUMAN	E	287;287;204;287;266;204;266	ENSP00000175506:A287E;ENSP00000377846:A287E;ENSP00000414379:A204E;ENSP00000377845:A287E;ENSP00000414901:A266E;ENSP00000408472:A204E;ENSP00000406994:A266E	ENSP00000175506:A287E	A	-	2	0	ASNS	97325569	1.000000	0.71417	0.917000	0.36280	0.989000	0.77384	8.521000	0.90569	2.368000	0.80403	0.557000	0.71058	GCA	.		0.478	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		T	97487633	G	T	97487633	3	4	25	1	0	0	0	0	1	0	0	0	1049	1319	46	3	853	3	ASNS	7	97487633	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	4752855	97487633	61651030	39	4119											
LMTK2	22853	hgsc.bcm.edu	37	7	97820972	97820972	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:97820972G>T	ENST00000297293.5	+	11	1488	c.1195G>T	c.(1195-1197)Gcg>Tcg	p.A399S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					AAAGAGACCCGCGGCTGAAGA	0.507																																					p.A399S		.											LMTK2_ENST00000297293,colon,carcinoma,0,2	LMTK2_ENST00000297293	0	0			c.G1195T						.						57	55	56					7																	97820972		2203	4300	6503	SO:0001583	missense	22853	exon11			AGACCCGCGGCTG	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.1195G>T	7.37:g.97820972G>T	ENSP00000297293:p.Ala399Ser	29	0		46	3	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737906	0.30774	.	.	ENSG00000164715	ENST00000297293	T	0.58506	0.33	5.52	4.41	0.53225	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097851	0.64402	D	0.000002	T	0.20740	0.0499	N	0.00456	-1.48	0.29917	N	0.823058	B	0.19706	0.038	B	0.25140	0.058	T	0.06643	-1.0815	10	0.38643	T	0.18	.	4.6036	0.12366	0.275:0.0:0.725:0.0	.	399	Q8IWU2	LMTK2_HUMAN	S	399	ENSP00000297293:A399S	ENSP00000297293:A399S	A	+	1	0	LMTK2	97658908	1.000000	0.71417	0.025000	0.17156	0.156000	0.22039	6.086000	0.71352	2.767000	0.95098	0.655000	0.94253	GCG	.		0.507	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		T	97820972	G	T	97820972	3	4	25	1	0	0	0	0	1	0	0	0	8889	1087	38	2	1237	2	LMTK2	7	97820972	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	333339	97820972	61317691	40	4120											
TAF6	6878	bcgsc.ca	37	7	99707848	99707848	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:99707848G>T	ENST00000344095.4	-	11	1658	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E	TAF6_ENST00000472509.1_Missense_Mutation_p.A435E|TAF6_ENST00000452041.1_Missense_Mutation_p.A378E|AP4M1_ENST00000421755.1_3'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.A415E|TAF6_ENST00000418432.2_Missense_Mutation_p.A302E|TAF6_ENST00000453269.2_Missense_Mutation_p.A378E	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	378					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCAAGCCTGCGATGGAGCC	0.542																																					p.A415E													.	TAF6	55	0			c.C1244A						.						201	205	203					7																	99707848		2203	4300	6503	SO:0001583	missense	9179	exon11			AAGCCTGCGATGG		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1133C>A	7.37:g.99707848G>T	ENSP00000344537:p.Ala378Glu	37	0		45	4	NM_001190415	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	CCDS5686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.11|14.11	2.437508|2.437508	0.43224|0.43224	.|.	.|.	ENSG00000106290|ENSG00000221838	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822|ENST00000450807	T;T;T;T;T;T|.	0.67171|.	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Domain of unknown function DUF1546 (1);|.	0.103098|.	0.64402|.	D|.	0.000003|.	T|T	0.57666|0.57666	0.2069|0.2069	L|L	0.31065|0.31065	0.9|0.9	0.80722|0.80722	D|D	1|1	P;B;P;B;B|.	0.35944|.	0.529;0.274;0.529;0.387;0.321|.	B;B;B;B;B|.	0.35039|.	0.194;0.122;0.194;0.09;0.194|.	T|T	0.55166|0.55166	-0.8183|-0.8183	10|6	0.25106|0.38643	T|T	0.35|0.18	-11.5068|-11.5068	16.3666|16.3666	0.83331|0.83331	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	415;378;368;378;302|.	B4DT11;P49848-2;A4D299;P49848;B3KUR4|.	.;.;.;TAF6_HUMAN;.|.	E|F	378;435;378;378;302;415|143	ENSP00000389575:A378E;ENSP00000419760:A435E;ENSP00000416396:A378E;ENSP00000344537:A378E;ENSP00000407980:A302E;ENSP00000399982:A415E|.	ENSP00000344537:A378E|ENSP00000391585:C143F	A|C	-|+	2|2	0|0	TAF6|AP4M1	99545784|99545784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.424000|8.424000	0.90267|0.90267	2.720000|2.720000	0.93068|0.93068	0.556000|0.556000	0.70494|0.70494	GCA|TGC	.		0.542	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		T	99707848	G	T	99707848	3	4	25	1	0	0	0	0	1	0	0	0	15577	1319	46	3	920	3	TAF6	7	99707848	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	1886876	99707848	59430815	41	4121											
GRM8	2918	hgsc.bcm.edu	37	7	126883170	126883170	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:126883170C>T	ENST00000339582.2	-	2	897	c.89G>A	c.(88-90)aGa>aAa	p.R30K	GRM8_ENST00000444921.2_Missense_Mutation_p.R30K|GRM8_ENST00000358373.3_Missense_Mutation_p.R30K|GRM8_ENST00000405249.1_Missense_Mutation_p.R30K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	30					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.R30I(2)		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)				GCTGTGAGTTCTTTGCATCAT	0.527										HNSCC(24;0.065)																											p.R30K		.											GRM8_ENST00000405249,NS,carcinoma,0,8	GRM8_ENST00000405249	0	2	Substitution - Missense(2)	large_intestine(2)	c.G89A						.						92	90	91					7																	126883170		2203	4300	6503	SO:0001583	missense	2918	exon1			TGAGTTCTTTGCA		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.89G>A	7.37:g.126883170C>T	ENSP00000344173:p.Arg30Lys	34	0		50	2	NM_000845	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	5.933	0.356180	0.11239	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	6.17	6.17	0.99709	.	0.133058	0.53938	D	0.000060	T	0.39358	0.1075	N	0.02802	-0.49	0.25275	N	0.98948	B;B	0.16396	0.017;0.0	B;B	0.13407	0.009;0.0	T	0.07731	-1.0757	10	0.02654	T	1	.	15.3567	0.74431	0.0:0.8613:0.1387:0.0	.	30;30	O00222-2;O00222	.;GRM8_HUMAN	K	30	ENSP00000344173:R30K;ENSP00000409790:R30K;ENSP00000351142:R30K;ENSP00000385731:R30K;ENSP00000415522:R30K	ENSP00000344173:R30K	R	-	2	0	GRM8	126670406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.262000	0.43285	2.941000	0.99782	0.655000	0.94253	AGA	.		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126883170	C	T	126883170	3	4	25	1	0	0	0	0	1	0	0	0	6830	913	32	3	2727	3	GRM8	7	126883170	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	27175322	126883170	32255493	42	4122											
PLXNA4	91584	hgsc.bcm.edu	37	7	131887440	131887440	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:131887440C>T	ENST00000359827.3	-	12	3513	c.2551G>A	c.(2551-2553)Gcc>Acc	p.A851T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A851T			Q9HCM2	PLXA4_HUMAN	plexin A4	851	PSI 3.				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						TTGCTTTTGGCACCAGACAGC	0.657																																					p.A851T		.											.	.	.	0			c.G2551A						.						36	40	39					7																	131887440		2003	4172	6175	SO:0001583	missense	91584	exon12			TTTTGGCACCAGA	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.2551G>A	7.37:g.131887440C>T	ENSP00000352882:p.Ala851Thr	53	0		99	4	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	7.167	0.586783	0.13749	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.17528	2.27;2.27	4.5	-4.43	0.03568	.	0.308380	0.33938	N	0.004410	T	0.02848	0.0085	N	0.00471	-1.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40683	-0.9550	10	0.11794	T	0.64	.	6.7981	0.23736	0.0:0.1341:0.3822:0.4837	.	851	Q9HCM2	PLXA4_HUMAN	T	851	ENSP00000323194:A851T;ENSP00000352882:A851T	ENSP00000323194:A851T	A	-	1	0	PLXNA4	131537980	0.018000	0.18449	0.002000	0.10522	0.778000	0.44026	0.234000	0.17930	-0.789000	0.04498	-0.304000	0.09214	GCC	.		0.657	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131887440	C	T	131887440	3	4	25	1	0	0	0	0	1	0	0	0	12161	710	25	3	3217	3	PLXNA4	7	131887440	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	5004270	131887440	27251223	43	4123											
TAS2R3	50831	broad.mit.edu	37	7	141464042	141464042	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:141464042G>T	ENST00000247879.2	+	1	146	c.84G>T	c.(82-84)gaG>gaT	p.E28D	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	28					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GTTTCATTGAGTTGGTCAATG	0.473																																					p.E28D													.	TAS2R3	40	0			c.G84T						.						245	238	241					7																	141464042		2203	4300	6503	SO:0001583	missense	50831	exon1			CATTGAGTTGGTC	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.84G>T	7.37:g.141464042G>T	ENSP00000247879:p.Glu28Asp	26	0		37	3	NM_016943	A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	g	9.435	1.086586	0.20390	.	.	ENSG00000127362	ENST00000247879	T	0.37058	1.22	6.17	0.113	0.14631	.	1.168210	0.06286	N	0.698341	T	0.24661	0.0598	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.19946	0.027	T	0.30387	-0.9980	10	0.56958	D	0.05	.	4.9511	0.14015	0.0972:0.1903:0.5151:0.1974	.	28	Q9NYW6	TA2R3_HUMAN	D	28	ENSP00000247879:E28D	ENSP00000247879:E28D	E	+	3	2	TAS2R3	141110511	0.000000	0.05858	0.000000	0.03702	0.466000	0.32739	-0.022000	0.12480	-0.517000	0.06461	-2.416000	0.00220	GAG	.		0.473	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			T	141464042	G	T	141464042	3	4	25	1	0	0	0	0	1	0	0	0	15619	1020	36	3	86	3	TAS2R3	7	141464042	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	9576602	141464042	17674621	44	4124											
MLL3	58508	broad.mit.edu	37	7	151962255	151962255	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr7:151962255C>T	ENST00000262189.6	-	8	1270	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	KMT2C_ENST00000355193.2_Missense_Mutation_p.G351E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	351					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)										TAAGAGGTCTCCCGGGCTGTC	0.393																																					p.G351E													.	MLL3	1564	0			c.G1052A						.						154	142	146					7																	151962255		2203	4296	6499	SO:0001583	missense	58508	exon8			AGGTCTCCCGGGC	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.1052G>A	7.37:g.151962255C>T	ENSP00000262189:p.Gly351Glu	116	0		118	7	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361625	0.41801	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99226	-5.59;-5.59	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	0.40640	U	0.001053	D	0.99336	0.9767	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99143	1.0856	10	0.87932	D	0	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	351	Q8NEZ4	MLL3_HUMAN	E	351	ENSP00000262189:G351E;ENSP00000347325:G351E	ENSP00000262189:G351E	G	-	2	0	MLL3	151593188	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.772000	0.85439	2.271000	0.75665	0.557000	0.71058	GGA	.		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151962255	C	T	151962255	3	4	25	1	0	0	0	0	1	0	0	0	9660	855	30	3	13891	3	MLL3	7	151962255	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	10498213	151962255	7176408	45	4125											
ANK1	286	hgsc.bcm.edu	37	8	41571689	41571689	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr8:41571689C>T	ENST00000347528.4	-	16	1868	c.1785G>A	c.(1783-1785)ccG>ccA	p.P595P	ANK1_ENST00000379758.2_Silent_p.P595P|ANK1_ENST00000396942.1_Silent_p.P595P|ANK1_ENST00000352337.4_Silent_p.P595P|ANK1_ENST00000396945.1_Silent_p.P595P|ANK1_ENST00000265709.8_Silent_p.P628P|ANK1_ENST00000289734.7_Silent_p.P595P	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	595	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)			CAGGGCTGTGCGGGGAGCCGC	0.667																																					p.P628P		.											.	.	.	0			c.G1884A						.						15	18	17					8																	41571689		2200	4295	6495	SO:0001819	synonymous_variant	286	exon16			GCTGTGCGGGGAG	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.1785G>A	8.37:g.41571689C>T		77	0		116	5	NM_001142446	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																			.		0.667	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41571689	C	T	41571689	2	4	25	1	0	0	0	0	0	0	0	1	620	755	27	1		1	ANK1	8	41571689	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09		41571689	104792333	46	4126											
PTPRD	5789	hgsc.bcm.edu	37	9	8331583	8331583	+	Splice_Site	SNP	T	T	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:8331583T>A	ENST00000381196.4	-	41	6076	c.5533A>T	c.(5533-5535)Agc>Tgc	p.S1845C	PTPRD_ENST00000397606.3_Splice_Site_p.S1438C|PTPRD_ENST00000540109.1_Splice_Site_p.S1845C|PTPRD_ENST00000486161.1_Splice_Site_p.S1438C|PTPRD_ENST00000537002.1_Splice_Site_p.S1435C|PTPRD_ENST00000397611.3_Splice_Site_p.S1435C|PTPRD_ENST00000397617.3_Splice_Site_p.S1438C|PTPRD_ENST00000360074.4_Splice_Site_p.S1832C|PTPRD_ENST00000358503.5_Splice_Site_p.S1823C|PTPRD_ENST00000356435.5_Splice_Site_p.S1845C|PTPRD_ENST00000355233.5_Splice_Site_p.S1439C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1845	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	p.S1845C(1)|p.S1316C(1)		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)		GAAACTTACCTGCAATGGACT	0.373										TSP Lung(15;0.13)																											p.S1845C		.											PTPRD_ENST00000346816,NS,carcinoma,0,2	PTPRD_ENST00000346816	0	2	Substitution - Missense(2)	lung(2)	c.A5533T						.						120	135	130					9																	8331583		2203	4299	6502	SO:0001630	splice_region_variant	5789	exon44			CTTACCTGCAATG	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.5534+1A>T	9.37:g.8331583T>A		27	1		25	4	NM_002839	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468046	0.84533	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	H	0.95884	3.735	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.969;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.961;0.914;0.979;0.994;0.996;0.999;0.995	T	0.72077	-0.4399	9	.	.	.	.	16.2962	0.82776	0.0:0.0:0.0:1.0	.	1438;1429;1438;1439;1435;1435;1832;1845;1845	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1845;1845;1832;1823;1439;1438;1435;1435;1316;1845;1438;1438	ENSP00000370593:S1845C;ENSP00000348812:S1845C;ENSP00000353187:S1832C;ENSP00000351293:S1823C;ENSP00000347373:S1439C;ENSP00000380741:S1438C;ENSP00000380735:S1435C;ENSP00000440515:S1435C;ENSP00000438164:S1845C;ENSP00000417093:S1438C;ENSP00000380731:S1438C	.	S	-	1	0	PTPRD	8321583	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.641000	0.83368	2.304000	0.77564	0.528000	0.53228	AGC	.		0.373	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Missense_Mutation	A	8331583	T	A	8331583	5	1	25	1	0	0	0	0	0	0	1	0	12844	1594	55	5	217	5	PTPRD	9	8331583	Splice_Site	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09		8331583	132881848	47	4127											
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	13222402	13222402	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:13222402C>T	ENST00000319217.7	-	6	824	c.577G>A	c.(577-579)Gga>Aga	p.G193R	MPDZ_ENST00000546205.1_Missense_Mutation_p.G193R|MPDZ_ENST00000536827.1_Missense_Mutation_p.G193R|MPDZ_ENST00000381022.2_Missense_Mutation_p.G193R|MPDZ_ENST00000541718.1_Missense_Mutation_p.G193R|MPDZ_ENST00000447879.1_Missense_Mutation_p.G193R|MPDZ_ENST00000381015.4_Missense_Mutation_p.G193R	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	193	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)			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)		AGAGCCTGTCCATTGATAGCA	0.418																																					p.G193R		.											.	.	.	0			c.G577A						.						222	205	210					9																	13222402		1904	4123	6027	SO:0001583	missense	8777	exon6			CCTGTCCATTGAT	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.577G>A	9.37:g.13222402C>T	ENSP00000320006:p.Gly193Arg	25	0		37	12	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	32	5.108766	0.94292	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.07	6.07	0.98685	.	0.000000	0.45126	D	0.000398	T	0.74306	0.3699	M	0.91090	3.175	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	0.77749	-0.2471	10	0.62326	D	0.03	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	193;193;193	B7ZMI4;O75970-3;O75970-2	.;.;.	R	193	ENSP00000320006:G193R;ENSP00000439807:G193R;ENSP00000370410:G193R;ENSP00000444151:G193R;ENSP00000415208:G193R;ENSP00000370403:G193R;ENSP00000446358:G193R	ENSP00000320006:G193R	G	-	1	0	MPDZ	13212402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.890000	0.99128	0.585000	0.79938	GGA	.		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		T	13222402	C	T	13222402	3	4	25	1	0	0	0	0	1	0	0	0	9760	603	21	3	5712	3	MPDZ	9	13222402	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	4890819	13222402	127991029	48	4128											
SMC5	23137	hgsc.bcm.edu	37	9	72882839	72882839	+	Splice_Site	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:72882839G>T	ENST00000361138.5	+	3	386	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	110					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						TATGTCTTAGGTTGGGTTTTT	0.313																																					p.V110F		.											.	.	.	0			c.G328T						.						263	261	261					9																	72882839		2203	4300	6503	SO:0001630	splice_region_variant	23137	exon3			TCTTAGGTTGGGT	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.328-1G>T	9.37:g.72882839G>T		57	0		99	4	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839900	0.91117	.	.	ENSG00000198887	ENST00000361138	T	0.68331	-0.32	5.8	5.8	0.92144	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82362	-0.0495	9	.	.	.	-18.9523	20.0493	0.97618	0.0:0.0:1.0:0.0	.	110	Q8IY18	SMC5_HUMAN	F	110	ENSP00000354957:V110F	.	V	+	1	0	SMC5	72072659	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.075000	0.64407	2.745000	0.94114	0.491000	0.48974	GTT	.		0.313	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	Missense_Mutation	T	72882839	G	T	72882839	5	4	25	1	0	0	0	0	0	0	1	0	14831	1275	44	3	338	3	SMC5	9	72882839	Splice_Site	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	59660437	72882839	68330592	49	4129											
PTCH1	5727	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	98242716	98242716	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:98242716C>T	ENST00000331920.6	-	6	1200	c.901G>A	c.(901-903)Gat>Aat	p.D301N	PTCH1_ENST00000375274.2_Missense_Mutation_p.D300N|PTCH1_ENST00000429896.2_Missense_Mutation_p.D150N|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000418258.1_Missense_Mutation_p.D150N|PTCH1_ENST00000421141.1_Missense_Mutation_p.D150N|PTCH1_ENST00000437951.1_Missense_Mutation_p.D235N|PTCH1_ENST00000430669.2_Missense_Mutation_p.D235N	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	301					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)				CAGTCTGGATCGGCCGGATTG	0.502																																					p.D301N		.											.	.	.	0			c.G901A						.						85	90	88					9																	98242716		2203	4300	6503	SO:0001583	missense	5727	exon6			CTGGATCGGCCGG	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.901G>A	9.37:g.98242716C>T	ENSP00000332353:p.Asp301Asn	21	0		28	12	NM_000264	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436985	0.96168	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271;ENST00000548420;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95171	-3.62;-3.56;-3.56;-3.56;-3.56;-3.56;-3.63;-3.3;-1.6;-2.49;-2.49;-2.49;-2.49	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	M	0.64676	1.99	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;P	0.97110	0.999;0.947;1.0;0.886	D	0.95811	0.8841	10	0.41790	T	0.15	-27.136	20.2187	0.98312	0.0:1.0:0.0:0.0	.	150;235;300;301	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	N	301;235;150;150;235;150;300;18;21;150;150;150;150	ENSP00000332353:D301N;ENSP00000389744:D235N;ENSP00000399981:D150N;ENSP00000396135:D150N;ENSP00000410287:D235N;ENSP00000414823:D150N;ENSP00000364423:D300N;ENSP00000364420:D18N;ENSP00000449078:D21N;ENSP00000447797:D150N;ENSP00000447008:D150N;ENSP00000447878:D150N;ENSP00000448843:D150N	ENSP00000332353:D301N	D	-	1	0	PTCH1	97282537	1.000000	0.71417	0.924000	0.36721	0.886000	0.51366	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	GAT	.		0.502	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98242716	C	T	98242716	3	4	25	1	0	0	0	0	1	0	0	0	12772	884	31	1	3514	1	PTCH1	9	98242716	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	25359877	98242716	42970715	50	4130											
ACTL7A	10881	hgsc.bcm.edu	37	9	111625685	111625685	+	Silent	SNP	C	C	T	rs371393958		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:111625685C>T	ENST00000333999.3	+	1	1083	c.1083C>T	c.(1081-1083)tgC>tgT	p.C361C		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	361						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTCTGCGGGGGCAGCA	0.577																																					p.C361C	Esophageal Squamous(177;1480 3591 17554)	.											ACTL7A,NS,carcinoma,0,1	ACTL7A	0	0			c.C1083T						.						118	103	108					9																	111625685		2203	4300	6503	SO:0001819	synonymous_variant	10881	exon1			GCTCTGCGGGGGC	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1083C>T	9.37:g.111625685C>T		22	0		33	3	NM_006687	B2RC83|Q5JSV0	Silent	SNP	ENST00000333999.3	37	CCDS6772.1																																																																																			.		0.577	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		T	111625685	C	T	111625685	2	4	25	1	0	0	0	0	0	0	0	1	200	776	27	1		1	ACTL7A	9	111625685	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	13382969	111625685	29587746	51	4131											
COL27A1	85301	hgsc.bcm.edu	37	9	117070033	117070033	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:117070033G>A	ENST00000356083.3	+	59	5583	c.5192G>A	c.(5191-5193)tGt>tAt	p.C1731Y		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1731	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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.C1731F(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						GGACAGACGTGTCTCAAGCCC	0.612																																					p.C1731Y		.											COL27A1,colon,carcinoma,-1,1	COL27A1	-1	1	Substitution - Missense(1)	ovary(1)	c.G5192A						.						210	155	174					9																	117070033		2203	4300	6503	SO:0001583	missense	85301	exon59			AGACGTGTCTCAA	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.5192G>A	9.37:g.117070033G>A	ENSP00000348385:p.Cys1731Tyr	23	0		20	2	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874341	0.72180	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.88124	-2.34	5.6	5.6	0.85130	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.95934	0.8676	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.947	D	0.97044	0.9759	9	0.72032	D	0.01	.	17.1167	0.86690	0.0:0.0:1.0:0.0	.	46;1731	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	Y	1731;1738	ENSP00000348385:C1731Y	ENSP00000348385:C1731Y	C	+	2	0	COL27A1	116109854	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	9.869000	0.99810	2.648000	0.89879	0.561000	0.74099	TGT	.		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	117070033	G	A	117070033	3	1	25	1	0	0	0	0	1	0	0	0	3692	1377	48	3	5426	3	COL27A1	9	117070033	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	5444348	117070033	24143398	52	4132											
GTF3C4	9329	hgsc.bcm.edu	37	9	135564267	135564267	+	Splice_Site	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:135564267G>T	ENST00000372146.4	+	5	2968		c.e5-1			NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa						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)		TCCTTTTGCAGATCCCGACTG	0.478																																					.	Pancreas(142;417 1875 11086 31973 47667)	.											GTF3C4,right_upper_lobe,carcinoma,0,1	GTF3C4	0	0			c.2405-1G>T						.						173	151	158					9																	135564267		2203	4300	6503	SO:0001630	splice_region_variant	9329	exon5			TTTGCAGATCCCG	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.2405-1G>T	9.37:g.135564267G>T		33	0		39	2	NM_012204	Q5VZJ7	Splice_Site	SNP	ENST00000372146.4	37	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318522	0.81469	.	.	ENSG00000125484	ENST00000372146	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5914	0.84766	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF3C4	134554088	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.116000	0.89574	2.701000	0.92244	0.462000	0.41574	.	.		0.478	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		Intron	T	135564267	G	T	135564267	5	4	25	1	0	0	0	0	0	0	1	0	6902	956	33	3	2422	3	GTF3C4	9	135564267	Splice_Site	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	18494234	135564267	5649164	53	4133											
EXD3	54932	hgsc.bcm.edu;broad.mit.edu	37	9	140201611	140201611	+	Missense_Mutation	SNP	C	C	T	rs540192818		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr9:140201611C>T	ENST00000340951.4	-	22	2617	c.2422G>A	c.(2422-2424)Ggc>Agc	p.G808S	EXD3_ENST00000342129.4_Missense_Mutation_p.G446S	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						AGCCGGGTGCCGTCGGCCAGC	0.692													C|||	1	0.000199681	8e-04	0	5008	,	,		12512	0		0	False		,,,				2504	0				p.G808S		.											.	.	.	0			c.G2422A						.						10	13	12					9																	140201611		1992	4163	6155	SO:0001583	missense	54932	exon22			GGGTGCCGTCGGC		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.2422G>A	9.37:g.140201611C>T	ENSP00000340474:p.Gly808Ser	9	0		15	7	NM_017820	Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599387	0.66332	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.72835	-0.69;0.45	4.42	2.52	0.30459	.	.	.	.	.	T	0.64527	0.2606	L	0.29908	0.895	0.19300	N	0.999971	D;D	0.61697	0.989;0.99	P;P	0.51582	0.674;0.561	T	0.53968	-0.8363	9	0.59425	D	0.04	.	6.7559	0.23514	0.0:0.7217:0.1792:0.0991	.	446;808	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	S	446;808	ENSP00000343705:G446S;ENSP00000340474:G808S	ENSP00000340474:G808S	G	-	1	0	EXD3	139321432	.	.	0.091000	0.20842	0.007000	0.05969	.	.	0.300000	0.22699	0.561000	0.74099	GGC	.		0.692	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		T	140201611	C	T	140201611	3	4	25	1	0	0	0	0	1	0	0	0	5315	652	23	1	212	1	EXD3	9	140201611	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	4637344	140201611	1011820	54	4134											
AGAP6	414189	broad.mit.edu	37	10	51768543	51768543	+	Missense_Mutation	SNP	T	T	C	rs368970869		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	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													AGAP6,NS,carcinoma,0,3	AGAP6	53	3	Substitution - Missense(3)	endometrium(2)|NS(1)	c.T658C						.																																			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	198	1		302	4	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		0.532	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		C	51768543	T	C	51768543	3	2	25	1	0	0	0	0	1	0	0	0	372	1435	50	4	688	4	AGAP6	10	51768543	Missense_Mutation	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09		51768543	83766204	55	4135											
HERC4	26091	hgsc.bcm.edu	37	10	69785435	69785435	+	Splice_Site	SNP	T	T	A	rs397840935|rs3834396	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr10:69785435T>A	ENST00000395198.3	-	8	1025		c.e8-2		HERC4_ENST00000412272.2_Splice_Site|HERC4_ENST00000373700.4_Splice_Site|HERC4_ENST00000395187.2_Splice_Site|HERC4_ENST00000277817.6_Splice_Site	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						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)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCACCTTCCTAAAAAAAGAC	0.338																																					.		.											.,1	.	78	1	Unknown(1)	pancreas(1)	c.778-2A>T						.						84	91	89					10																	69785435		2203	4300	6503	SO:0001630	splice_region_variant	26091	exon9			CCTTCCTAAAAAA	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.778-2A>T	10.37:g.69785435T>A		85	0		144	0	NM_022079	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Splice_Site	SNP	ENST00000395198.3	37	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411748	0.83340	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.084	0.72135	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC4	69455441	1.000000	0.71417	0.961000	0.40146	0.956000	0.61745	7.991000	0.88244	1.962000	0.57031	0.482000	0.46254	.	.		0.338	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601	Intron	A	69785435	T	A	69785435	5	1	25	1	0	0	0	0	0	0	1	0	7087	1536	53	5	2473	5	HERC4	10	69785435	Splice_Site	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09	18016892	69785435	65749312	56	4136											
ZMYND17	118490	hgsc.bcm.edu	37	10	75184905	75184905	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr10:75184905G>T	ENST00000372912.1	-	5	1116	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	MSS51_ENST00000299432.2_Missense_Mutation_p.L372M			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	372					social behavior (GO:0035176)		metal ion binding (GO:0046872)										AGTAGCAGCAGGGTGGGCAGC	0.428																																					p.L372M		.											.	.	.	0			c.C1114A						.						88	92	91					10																	75184905		2203	4300	6503	SO:0001583	missense	118490	exon6			GCAGCAGGGTGGG	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.1114C>A	10.37:g.75184905G>T	ENSP00000362003:p.Leu372Met	37	0		61	2	NM_001024593	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305718	0.60305	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.58060	0.36;0.36	5.21	1.25	0.21368	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.66939	2.045	0.35412	D	0.792558	D;D	0.71674	0.998;0.996	P;P	0.60173	0.87;0.745	T	0.64188	-0.6466	10	0.56958	D	0.05	-4.7815	5.4887	0.16763	0.2351:0.0:0.6249:0.14	.	151;372	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	M	372	ENSP00000299432:L372M;ENSP00000362003:L372M	ENSP00000299432:L372M	L	-	1	2	ZMYND17	74854911	1.000000	0.71417	0.991000	0.47740	0.928000	0.56348	2.778000	0.47726	0.071000	0.16664	-0.157000	0.13467	CTG	.		0.428	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		T	75184905	G	T	75184905	3	4	25	1	0	0	0	0	1	0	0	0	17757	991	35	3	276	3	ZMYND17	10	75184905	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	5399470	75184905	60349842	57	4137											
DNMBP	23268	hgsc.bcm.edu	37	10	101639890	101639890	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr10:101639890G>T	ENST00000324109.4	-	16	4317	c.4226C>A	c.(4225-4227)cCg>cAg	p.P1409Q	DNMBP_ENST00000543621.1_Missense_Mutation_p.P655Q|DNMBP_ENST00000342239.3_Missense_Mutation_p.P1433Q|DNMBP_ENST00000540316.1_Missense_Mutation_p.P345Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1409	Ser-rich.				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)		TTCTTTTGGCGGAGGAGATGC	0.547																																					p.P1409Q		.											DNMBP,colon,carcinoma,0,1	DNMBP	0	0			c.C4226A						.						188	185	186					10																	101639890		2203	4300	6503	SO:0001583	missense	23268	exon16			TTTGGCGGAGGAG	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.4226C>A	10.37:g.101639890G>T	ENSP00000315659:p.Pro1409Gln	24	1		31	2	NM_015221	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	7.572	0.666896	0.14710	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.34472	2.81;2.77;2.44;1.36	5.43	2.07	0.26955	.	2.398360	0.02512	N	0.091658	T	0.35566	0.0936	L	0.44542	1.39	0.09310	N	1	B;B;B	0.32893	0.389;0.302;0.389	B;B;B	0.36378	0.171;0.223;0.171	T	0.27226	-1.0080	10	0.27785	T	0.31	.	8.6413	0.33978	0.2039:0.1218:0.6743:0.0	.	1409;655;1433	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	Q	1433;1409;655;655;345	ENSP00000344914:P1433Q;ENSP00000315659:P1409Q;ENSP00000443657:P655Q;ENSP00000443573:P345Q	ENSP00000315659:P1409Q	P	-	2	0	DNMBP	101629880	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	2.033000	0.41136	0.653000	0.30826	0.561000	0.74099	CCG	.		0.547	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101639890	G	T	101639890	3	4	25	1	0	0	0	0	1	0	0	0	4688	1116	39	2	515	2	DNMBP	10	101639890	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	26454985	101639890	33894857	58	4138											
NOLC1	9221	hgsc.bcm.edu;bcgsc.ca	37	10	103916788	103916788	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr10:103916788G>A	ENST00000605788.1	+	2	368	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	NOLC1_ENST00000405356.1_Missense_Mutation_p.A45T|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A45T	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	45					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)		ACAGCAGGATGCCAATGCCTC	0.413																																					p.A45T		.											.	.	.	0			c.G133A						.						242	237	239					10																	103916788		2203	4300	6503	SO:0001583	missense	9221	exon2			CAGGATGCCAATG	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.133G>A	10.37:g.103916788G>A	ENSP00000474710:p.Ala45Thr	50	0		75	4	NM_004741	Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036421	0.54896	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.43688	0.94	5.92	2.96	0.34315	.	0.165024	0.43416	D	0.000578	T	0.36799	0.0980	M	0.63428	1.95	0.33234	D	0.556268	P;P;B	0.34724	0.465;0.465;0.335	B;B;B	0.34242	0.178;0.178;0.086	T	0.50491	-0.8822	10	0.48119	T	0.1	-7.9818	7.511	0.27573	0.0:0.2461:0.4983:0.2556	.	45;45;45	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	T	45	ENSP00000385410:A45T	ENSP00000359024:A45T	A	+	1	0	NOLC1	103906778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.435000	0.44811	0.819000	0.34492	0.655000	0.94253	GCC	.		0.413	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		A	103916788	G	A	103916788	3	1	25	1	0	0	0	0	1	0	0	0	10568	1319	46	3	139	3	NOLC1	10	103916788	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	2276898	103916788	31617959	59	4139											
MUC6	4588	bcgsc.ca	37	11	1017988	1017988	+	Missense_Mutation	SNP	G	G	T	rs112579249		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:1017988G>T	ENST00000421673.2	-	31	4863	c.4813C>A	c.(4813-4815)Cca>Aca	p.P1605T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1605	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)		GGGTGTGATGGGGTTGGATAG	0.547																																					p.P1605T													.	MUC6	408	0			c.C4813A						.						440	415	424					11																	1017988		2181	4271	6452	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.4813C>A	11.37:g.1017988G>T	ENSP00000406861:p.Pro1605Thr	49	1		68	13	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	1.148	-0.647618	0.03506	.	.	ENSG00000184956	ENST00000421673	T	0.25579	1.79	2.39	-0.213	0.13165	.	.	.	.	.	T	0.28333	0.0700	L	0.35341	1.055	0.09310	N	1	D	0.71674	0.998	D	0.73708	0.981	T	0.18209	-1.0344	9	0.29301	T	0.29	.	0.7847	0.01046	0.1618:0.2393:0.3558:0.2431	.	1605	Q6W4X9	MUC6_HUMAN	T	1605	ENSP00000406861:P1605T	ENSP00000406861:P1605T	P	-	1	0	MUC6	1007988	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	0.017000	0.13399	0.255000	0.21593	0.297000	0.19635	CCA	G|0.500;T|0.500		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017988	G	T	1017988	3	4	25	1	0	0	0	0	1	0	0	0	10018	1232	43	3	2518	3	MUC6	11	1017988	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		1017988	133988528	60	4140											
USP47	55031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	11969496	11969496	+	Missense_Mutation	SNP	G	G	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:11969496G>C	ENST00000399455.2	+	22	3276	c.3156G>C	c.(3154-3156)ttG>ttC	p.L1052F	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.L1032F|USP47_ENST00000339865.5_Missense_Mutation_p.L964F	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1052					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GCTTAGGGTTGATGGTGCATG	0.338																																					p.L964F		.											.	.	.	0			c.G2892C						.						118	111	113					11																	11969496		1810	4070	5880	SO:0001583	missense	55031	exon20			AGGGTTGATGGTG	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3156G>C	11.37:g.11969496G>C	ENSP00000382382:p.Leu1052Phe	37	0		50	25	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	G	17.60	3.430457	0.62844	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.95622	-3.76;-3.76;-3.76	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.96210	0.8764	L	0.58101	1.795	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.75484	0.969;0.986	D	0.94550	0.7753	10	0.31617	T	0.26	.	9.359	0.38184	0.0766:0.1446:0.7788:0.0	.	1032;964	E9PM46;Q96K76-2	.;.	F	964;1032;1052	ENSP00000339957:L964F;ENSP00000433146:L1032F;ENSP00000382382:L1052F	ENSP00000339957:L964F	L	+	3	2	USP47	11926072	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.474000	0.60203	1.283000	0.44513	0.591000	0.81541	TTG	.		0.338	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		C	11969496	G	C	11969496	3	2	25	1	0	0	0	0	1	0	0	0	17127	1281	45	5	2970	5	USP47	11	11969496	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	10951508	11969496	123037020	61	4141											
PRMT3	10196	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	20473693	20473693	+	Missense_Mutation	SNP	T	T	G			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:20473693T>G	ENST00000331079.6	+	11	1228	c.1011T>G	c.(1009-1011)ttT>ttG	p.F337L	PRMT3_ENST00000437750.2_Missense_Mutation_p.F275L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	337	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTCTTCTGTTTGAGTCTATGT	0.338																																					p.F337L		.											.	.	.	0			c.T1011G						.						156	150	152					11																	20473693		2203	4300	6503	SO:0001583	missense	10196	exon11			TCTGTTTGAGTCT	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1011T>G	11.37:g.20473693T>G	ENSP00000331879:p.Phe337Leu	85	0		110	7	NM_005788	B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732060	0.48939	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.21932	1.98;1.98	5.69	2.15	0.27550	.	0.044001	0.85682	N	0.000000	T	0.12178	0.0296	N	0.13168	0.305	0.53688	D	0.999979	B;B	0.31949	0.348;0.011	B;B	0.32624	0.149;0.031	T	0.11842	-1.0571	10	0.72032	D	0.01	-12.6888	9.1974	0.37237	0.0:0.208:0.0:0.792	.	275;337	O60678-2;O60678	.;ANM3_HUMAN	L	337;337;275	ENSP00000331879:F337L;ENSP00000397766:F275L	ENSP00000331879:F337L	F	+	3	2	PRMT3	20430269	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	0.987000	0.29603	0.120000	0.18254	-0.262000	0.10625	TTT	.		0.338	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		G	20473693	T	G	20473693	3	3	25	1	0	0	0	0	1	0	0	0	12580	1809	63	4	1053	4	PRMT3	11	20473693	Missense_Mutation	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09	8504197	20473693	114532823	62	4142											
AGBL2	79841	hgsc.bcm.edu	37	11	47727437	47727437	+	Missense_Mutation	SNP	G	G	T	rs200616669		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:47727437G>T	ENST00000525123.1	-	5	550	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	AGBL2_ENST00000528244.1_Missense_Mutation_p.Q89K|AGBL2_ENST00000357610.3_Missense_Mutation_p.Q89K|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q89K	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	89						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						GCTTCTATCTGTCTGTGCACA	0.463																																					p.Q89K		.											.	.	.	0			c.C265A						.						224	206	212					11																	47727437		2201	4298	6499	SO:0001583	missense	79841	exon5			CTATCTGTCTGTG		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.265C>A	11.37:g.47727437G>T	ENSP00000435582:p.Gln89Lys	68	0		97	4	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289684	0.23478	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000530577;ENST00000529154	T;T;T;T;T;T	0.42900	2.98;2.97;2.98;2.98;0.96;2.04	3.26	2.34	0.29019	.	1.966240	0.02879	N	0.132609	T	0.31167	0.0788	N	0.25647	0.755	0.09310	N	1	B;B	0.19817	0.039;0.013	B;B	0.18871	0.023;0.006	T	0.15983	-1.0418	10	0.22706	T	0.39	-0.5543	6.452	0.21908	0.1341:0.0:0.8659:0.0	.	89;89	F6U0I4;Q5U5Z8	.;CBPC2_HUMAN	K	89;89;89;89;69;89	ENSP00000435582:Q89K;ENSP00000350228:Q89K;ENSP00000298861:Q89K;ENSP00000436630:Q89K;ENSP00000432264:Q69K;ENSP00000436518:Q89K	ENSP00000298861:Q89K	Q	-	1	0	AGBL2	47684013	0.040000	0.19996	0.009000	0.14445	0.167000	0.22549	2.842000	0.48230	0.946000	0.37632	0.543000	0.68304	CAG	0.001		0.463	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		T	47727437	G	T	47727437	3	4	25	1	0	0	0	0	1	0	0	0	376	1386	48	3	2503	3	AGBL2	11	47727437	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	27253744	47727437	87279079	63	4143											
LRRC55	219527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	56949739	56949739	+	Silent	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:56949739G>A	ENST00000497933.1	+	1	519	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	94					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						CAGCAGTGCCGCCTGGCTACC	0.602																																					p.P124P		.											.	.	.	0			c.G372A						.						59	59	59					11																	56949739		2201	4296	6497	SO:0001819	synonymous_variant	219527	exon1			AGTGCCGCCTGGC		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.372G>A	11.37:g.56949739G>A		33	0		68	18	NM_001005210	A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	CCDS31539.1																																																																																			.		0.602	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		A	56949739	G	A	56949739	2	1	25	1	0	0	0	0	0	0	0	1	9046	1074	38	1		1	LRRC55	11	56949739	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	9222302	56949739	78056777	64	4144											
WDR74	54663	hgsc.bcm.edu	37	11	62601270	62601270	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:62601270C>T	ENST00000525239.1	-	10	1452	c.915G>A	c.(913-915)gaG>gaA	p.E305E	WDR74_ENST00000311713.7_Silent_p.E305E|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000541317.1_5'Flank|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000525752.1_Silent_p.E248E|WDR74_ENST00000529106.1_Silent_p.E305E|WDR74_ENST00000278856.4_Silent_p.E305E|STX5_ENST00000394690.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	305					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TTACCTTATGCTCCAGACCCC	0.567																																					p.E305E		.											WDR74_ENST00000525239,NS,carcinoma,0,2	WDR74_ENST00000525239	0	0			c.G915A						.						93	97	96					11																	62601270		1994	4170	6164	SO:0001819	synonymous_variant	54663	exon10			CTTATGCTCCAGA		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.915G>A	11.37:g.62601270C>T		34	0		47	2	NM_018093	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	ENST00000525239.1	37	CCDS44630.1																																																																																			.		0.567	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		T	62601270	C	T	62601270	2	4	25	1	0	0	0	0	0	0	0	1	17373	796	28	3		3	WDR74	11	62601270	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	5651531	62601270	72405246	65	4145											
FAT3	120114	hgsc.bcm.edu	37	11	92599977	92599977	+	Missense_Mutation	SNP	G	G	T	rs376837097		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:92599977G>T	ENST00000298047.6	+	21	11746	c.11729G>T	c.(11728-11730)cGt>cTt	p.R3910L	FAT3_ENST00000409404.2_Missense_Mutation_p.R3910L|FAT3_ENST00000525166.1_Missense_Mutation_p.R3760L|FAT3_ENST00000533797.1_Missense_Mutation_p.R245L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3910	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.R3910L(2)|p.R485L(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)				ATCTCGGGCCGTGCTGTCAAC	0.627										TCGA Ovarian(4;0.039)																											p.R3910L		.											FAT3_ENST00000409404,NS,carcinoma,0,3	FAT3_ENST00000409404	0	3	Substitution - Missense(3)	lung(3)	c.G11729T						.	G	LEU/ARG	0,4088		0,0,2044	34	39	37		11729	5.8	1	11		37	1,8383		0,1,4191	no	missense	FAT3	NM_001008781.2	102	0,1,6235	TT,TG,GG		0.0119,0.0,0.0080	possibly-damaging	3910/4558	92599977	1,12471	2044	4192	6236	SO:0001583	missense	120114	exon21			CGGGCCGTGCTGT	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.11729G>T	11.37:g.92599977G>T	ENSP00000298047:p.Arg3910Leu	27	0		54	3	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	16.94	3.261193	0.59431	0.0	1.19E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.81992	0.4940	L	0.43152	1.355	0.80722	D	1	D;B	0.67145	0.996;0.073	P;B	0.61722	0.893;0.115	T	0.75306	-0.3364	9	0.11485	T	0.65	.	19.9934	0.97376	0.0:0.0:1.0:0.0	.	3910;3910	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3910;3910;3760;245	ENSP00000298047:R3910L;ENSP00000387040:R3910L;ENSP00000432586:R3760L;ENSP00000436399:R245L	ENSP00000298047:R3910L	R	+	2	0	FAT3	92239625	1.000000	0.71417	0.964000	0.40570	0.724000	0.41520	6.323000	0.72891	2.732000	0.93576	0.561000	0.74099	CGT	.		0.627	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92599977	G	T	92599977	3	4	25	1	0	0	0	0	1	0	0	0	5713	1145	40	2	11811	2	FAT3	11	92599977	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	29998707	92599977	42406539	66	4146											
YAP1	10413	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	102100578	102100578	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:102100578G>T	ENST00000282441.5	+	9	1810	c.1422G>T	c.(1420-1422)ctG>ctT	p.L474L	RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000537274.1_Silent_p.L462L|YAP1_ENST00000526343.1_Silent_p.L420L|YAP1_ENST00000524575.1_Silent_p.L296L|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000345877.2_Silent_p.L424L|YAP1_ENST00000531439.1_Silent_p.L458L	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	474	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)		TGCCAAGTCTGCAGGAAGCTT	0.463																																					p.L474L	Colon(50;247 1103 7861 28956)	.											.	.	.	0			c.G1422T						.						130	127	128					11																	102100578		2203	4299	6502	SO:0001819	synonymous_variant	10413	exon9			AAGTCTGCAGGAA		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.1422G>T	11.37:g.102100578G>T		43	0		60	14	NM_001130145	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623638	0.14193	.	.	ENSG00000137693	ENST00000529029	.	.	.	6.17	0.382	0.16234	.	.	.	.	.	T	0.53318	0.1789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43032	-0.9416	4	.	.	.	.	6.8983	0.24269	0.18:0.0:0.4347:0.3853	.	.	.	.	F	228	.	.	C	+	2	0	YAP1	101605788	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.967000	0.29344	0.155000	0.19261	0.655000	0.94253	TGC	.		0.463	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		T	102100578	G	T	102100578	2	4	25	1	0	0	0	0	0	0	0	1	17515	1306	46	3		3	YAP1	11	102100578	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	9500601	102100578	32905938	67	4147											
DDX10	1662	hgsc.bcm.edu;bcgsc.ca	37	11	108590611	108590611	+	Splice_Site	SNP	C	C	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:108590611C>A	ENST00000322536.3	+	12	1627	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	DDX10_ENST00000526794.1_Splice_Site_p.L500M	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	500					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGAATATGCCCTGTAAGTATT	0.348			T	NUP98	AML*																																p.L500M		.		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	.	.	0			c.C1498A						.						89	87	88					11																	108590611		2200	4298	6498	SO:0001630	splice_region_variant	1662	exon12			TATGCCCTGTAAG	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1499+1C>A	11.37:g.108590611C>A		74	0		97	4	NM_004398	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	C	9.691	1.151985	0.21371	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.39787	1.06;1.06	5.5	3.63	0.41609	.	0.273852	0.35970	N	0.002865	T	0.38161	0.1030	L	0.39397	1.21	0.29801	N	0.832449	P;P	0.34909	0.475;0.475	B;B	0.40329	0.222;0.326	T	0.33214	-0.9877	10	0.36615	T	0.2	-8.914	12.1085	0.53825	0.0:0.8609:0.0:0.1391	.	500;500	Q13206;E9PIF2	DDX10_HUMAN;.	M	500;406;500	ENSP00000314348:L500M;ENSP00000432032:L500M	ENSP00000314348:L500M	L	+	1	2	DDX10	108095821	0.945000	0.32115	1.000000	0.80357	0.258000	0.26162	1.638000	0.37165	0.801000	0.34066	0.650000	0.86243	CTG	.		0.348	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	Missense_Mutation	A	108590611	C	A	108590611	5	1	25	1	0	0	0	0	0	0	1	0	4351	695	24	3	1544	3	DDX10	11	108590611	Splice_Site	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	6490033	108590611	26415905	68	4148											
PIH1D2	120379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	111942424	111942424	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:111942424G>A	ENST00000280350.4	-	3	458	c.236C>T	c.(235-237)cCc>cTc	p.P79L	C11orf57_ENST00000280352.9_5'Flank|C11orf57_ENST00000393047.3_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.P79L|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000420986.2_5'Flank|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.P79L|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000530641.1_Missense_Mutation_p.P79L|PIH1D2_ENST00000528775.1_Missense_Mutation_p.P79L	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	79										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GGTTGATTGGGGAGCTGGGAT	0.363																																					p.P79L		.											.	.	.	0			c.C236T						.						146	144	145					11																	111942424		2201	4297	6498	SO:0001583	missense	120379	exon3			GATTGGGGAGCTG	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.236C>T	11.37:g.111942424G>A	ENSP00000280350:p.Pro79Leu	56	0		66	22	NM_001082619	B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736317	0.69189	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.86028	2.79	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	0.78560	-0.2157	10	0.62326	D	0.03	-10.2927	15.7104	0.77623	0.0:0.0:1.0:0.0	.	79;79;79	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	L	79;79;79;79;79;44	ENSP00000434275:P79L;ENSP00000388209:P79L;ENSP00000431841:P79L;ENSP00000280350:P79L;ENSP00000431147:P79L;ENSP00000433297:P44L	ENSP00000280350:P79L	P	-	2	0	PIH1D2	111447634	1.000000	0.71417	0.975000	0.42487	0.839000	0.47603	3.643000	0.54374	2.695000	0.91970	0.561000	0.74099	CCC	.		0.363	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		A	111942424	G	A	111942424	3	1	25	1	0	0	0	0	1	0	0	0	11946	1232	43	3	785	3	PIH1D2	11	111942424	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	3351813	111942424	23064092	69	4149											
BCO2	83875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	112070469	112070469	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr11:112070469G>A	ENST00000357685.5	+	6	919	c.784G>A	c.(784-786)Ggg>Agg	p.G262R	BCO2_ENST00000526088.1_Missense_Mutation_p.G228R|BCO2_ENST00000532593.1_Missense_Mutation_p.G157R|AP002884.3_ENST00000532612.1_Missense_Mutation_p.G160R|BCO2_ENST00000393032.2_Missense_Mutation_p.G228R|BCO2_ENST00000531169.1_Missense_Mutation_p.G228R|BCO2_ENST00000438022.1_Missense_Mutation_p.G228R|BCO2_ENST00000361053.4_Missense_Mutation_p.G189R			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	262					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						GGTGGACCTTGGGGAGACAAT	0.403																																					p.G262R	GBM(177;1916 2099 21049 29541 39946)	.											.	.	.	0			c.G784A						.						162	163	162					11																	112070469		2201	4297	6498	SO:0001583	missense	83875	exon6			GACCTTGGGGAGA	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.784G>A	11.37:g.112070469G>A	ENSP00000350314:p.Gly262Arg	37	0		64	21	NM_031938	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	G	4.780	0.144983	0.09134	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.95788	-3.81;-3.8;-3.5;-3.8;-3.79;-3.65;-3.8	5.72	3.81	0.43845	.	0.729507	0.14194	N	0.335146	D	0.92890	0.7738	L	0.31065	0.9	0.09310	N	1	B;P;B;B	0.50369	0.188;0.934;0.119;0.311	B;P;B;B	0.50537	0.222;0.643;0.222;0.158	D	0.85463	0.1168	10	0.25751	T	0.34	-4.6846	10.0107	0.41984	0.1241:0.1145:0.7613:0.0	.	239;189;262;89	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	R	262;228;189;228;228;157;228	ENSP00000350314:G262R;ENSP00000376752:G228R;ENSP00000354338:G189R;ENSP00000414843:G228R;ENSP00000436615:G228R;ENSP00000431802:G157R;ENSP00000437053:G228R	ENSP00000350314:G262R	G	+	1	0	BCO2	111575679	0.007000	0.16637	0.043000	0.18650	0.060000	0.15804	1.399000	0.34566	1.411000	0.46957	0.655000	0.94253	GGG	.		0.403	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		A	112070469	G	A	112070469	3	1	25	1	0	0	0	0	1	0	0	0	1386	1348	47	3	806	3	BCO2	11	112070469	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	128045	112070469	22936047	70	4150											
OR8B3	390271	hgsc.bcm.edu	37	11	124266927	124266927	+	Silent	SNP	A	A	G	rs142812088		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	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		.											OR8B3,NS,carcinoma,0,1	OR8B3	0	0			c.T321C						.						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		45	1		56	5	NM_001005467	Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	CCDS31709.1																																																																																			0.000		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266927	A	G	124266927	2	3	25	1	0	0	0	0	0	0	0	1	11267	127	5	4		4	OR8B3	11	124266927	Silent	SNP	A	TCGA-W6-AA0S-01A-11D-A417-09	12196458	124266927	10739589	71	4151											
SOX5	6660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	23757376	23757376	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:23757376G>A	ENST00000451604.2	-	9	1210	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	SOX5_ENST00000545921.1_Missense_Mutation_p.S360F|SOX5_ENST00000381381.2_Missense_Mutation_p.S357F|SOX5_ENST00000309359.1_Missense_Mutation_p.S357F|SOX5_ENST00000546136.1_Missense_Mutation_p.S357F|SOX5_ENST00000541536.1_Missense_Mutation_p.S357F|SOX5_ENST00000537393.1_Missense_Mutation_p.S335F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	370					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|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)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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.S370F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTGGTAGGAGATACAGCAGC	0.502																																					p.S370F		.											SOX5,colon,carcinoma,-1,1	SOX5	-1	1	Substitution - Missense(1)	ovary(1)	c.C1109T						.						163	133	143					12																	23757376		2203	4300	6503	SO:0001583	missense	6660	exon9			GTAGGAGATACAG	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1109C>T	12.37:g.23757376G>A	ENSP00000398273:p.Ser370Phe	24	0		43	19	NM_006940	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657444	0.88154	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.98105	-4.7;-4.7;-4.34;-4.71;-4.72;-4.34;-4.71	6.16	6.16	0.99307	.	0.171135	0.53938	D	0.000045	D	0.98526	0.9508	M	0.76170	2.325	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.984;0.993	D;D;P	0.74348	0.956;0.983;0.904	D	0.97379	0.9981	10	0.20046	T	0.44	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	335;357;370	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	F	357;357;357;370;322;335;357;360	ENSP00000437487:S357F;ENSP00000308927:S357F;ENSP00000370788:S357F;ENSP00000398273:S370F;ENSP00000439832:S335F;ENSP00000441973:S357F;ENSP00000443520:S360F	ENSP00000308927:S357F	S	-	2	0	SOX5	23648643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.241000	0.89816	2.937000	0.99478	0.650000	0.86243	TCT	.		0.502	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		A	23757376	G	A	23757376	3	1	25	1	0	0	0	0	1	0	0	0	14999	942	33	3	1220	3	SOX5	12	23757376	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		23757376	110094519	72	4152											
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	26755323	26755323	+	Silent	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:26755323G>A	ENST00000381340.3	-	28	4074	c.3658C>T	c.(3658-3660)Ctg>Ttg	p.L1220L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1220					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)	GGTATCTGCAGAAGATCCAAC	0.353																																					p.L1220L		.											.	.	.	0			c.C3658T						.						100	93	95					12																	26755323		1821	4078	5899	SO:0001819	synonymous_variant	3709	exon28			TCTGCAGAAGATC	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.3658C>T	12.37:g.26755323G>A		139	0		160	49	NM_002223	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																			.		0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26755323	G	A	26755323	2	1	25	1	0	0	0	0	0	0	0	1	7948	933	33	3		3	ITPR2	12	26755323	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	2997947	26755323	107096572	73	4153			1	5		6	6	313	G		2.457477e-17
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	26755371	26755371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:26755371G>A	ENST00000381340.3	-	28	4026	c.3610C>T	c.(3610-3612)Caa>Taa	p.Q1204*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1204					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)	AGTAATCGTTGATGTTGATTC	0.358																																					p.Q1204X		.											.	.	.	0			c.C3610T						.						101	95	97					12																	26755371		1824	4074	5898	SO:0001587	stop_gained	3709	exon28			ATCGTTGATGTTG	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.3610C>T	12.37:g.26755371G>A	ENSP00000370744:p.Gln1204*	97	0		116	34	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	47	13.526431	0.99747	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.46	5.46	0.80206	.	0.119289	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	.	.	.	X	1204	.	ENSP00000370744:Q1204X	Q	-	1	0	ITPR2	26646638	1.000000	0.71417	0.944000	0.38274	0.982000	0.71751	9.463000	0.97652	2.840000	0.97914	0.655000	0.94253	CAA	.		0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26755371	G	A	26755371	4	1	25	1	0	0	0	0	0	1	0	0	7948	1299	45	3	4615	3	ITPR2	12	26755371	Nonsense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	48	26755371	107096524	74	4154			1	5		6	6	313	G		2.457477e-17
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	26755405	26755405	+	Silent	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:26755405G>A	ENST00000381340.3	-	28	3992	c.3576C>T	c.(3574-3576)ctC>ctT	p.L1192L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1192					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)	TCTGCACACAGAGTTTACTTA	0.333																																					p.L1192L		.											.	.	.	0			c.C3576T						.						87	81	83					12																	26755405		1813	4071	5884	SO:0001819	synonymous_variant	3709	exon28			CACACAGAGTTTA	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.3576C>T	12.37:g.26755405G>A		92	0		118	29	NM_002223	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																			.		0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26755405	G	A	26755405	2	1	25	1	0	0	0	0	0	0	0	1	7948	929	33	3		3	ITPR2	12	26755405	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	34	26755405	107096490	75	4155			1	5		6	6	313	G		2.457477e-17
ITPR2	3709	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	26755420	26755420	+	Missense_Mutation	SNP	G	G	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:26755420G>C	ENST00000381340.3	-	28	3977	c.3561C>G	c.(3559-3561)atC>atG	p.I1187M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1187					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)	TACTTAGCCTGATCAAAATCT	0.328																																					p.I1187M		.											.	.	.	0			c.C3561G						.						73	68	70					12																	26755420		1802	4066	5868	SO:0001583	missense	3709	exon28			TAGCCTGATCAAA	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.3561C>G	12.37:g.26755420G>C	ENSP00000370744:p.Ile1187Met	92	0		115	25	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380974	0.24944	.	.	ENSG00000123104	ENST00000381340	D	0.95412	-3.7	5.46	-2.82	0.05787	Intracellular calcium-release channel (1);	0.246503	0.41938	D	0.000782	D	0.89684	0.6786	N	0.19112	0.55	0.45087	D	0.998108	B	0.30193	0.272	B	0.37508	0.252	T	0.77088	-0.2717	10	0.20046	T	0.44	.	13.3263	0.60461	0.4888:0.0:0.5112:0.0	.	1187	Q14571	ITPR2_HUMAN	M	1187	ENSP00000370744:I1187M	ENSP00000370744:I1187M	I	-	3	3	ITPR2	26646687	0.560000	0.26570	0.966000	0.40874	0.976000	0.68499	-0.106000	0.10890	-0.352000	0.08237	-0.238000	0.12139	ATC	.		0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26755420	G	C	26755420	3	2	25	1	0	0	0	0	1	0	0	0	7948	1280	45	5	4664	5	ITPR2	12	26755420	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	15	26755420	107096475	76	4156			1	5		6	6	313	G		2.457477e-17
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	26755574	26755574	+	Missense_Mutation	SNP	G	G	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:26755574G>C	ENST00000381340.3	-	27	3944	c.3528C>G	c.(3526-3528)agC>agG	p.S1176R		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1176					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)	GGTAGTTATTGCTCTTGTTGC	0.323																																					p.S1176R		.											.	.	.	0			c.C3528G						.						122	103	109					12																	26755574		1839	4097	5936	SO:0001583	missense	3709	exon27			GTTATTGCTCTTG	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.3528C>G	12.37:g.26755574G>C	ENSP00000370744:p.Ser1176Arg	27	0		54	11	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987740	0.35036	.	.	ENSG00000123104	ENST00000381340	D	0.89123	-2.47	4.83	2.98	0.34508	.	0.529785	0.22464	N	0.059704	T	0.81370	0.4808	L	0.35542	1.07	0.80722	D	1	B	0.33135	0.399	B	0.36289	0.221	T	0.72408	-0.4303	10	0.22109	T	0.4	.	7.9062	0.29763	0.1471:0.1339:0.7189:0.0	.	1176	Q14571	ITPR2_HUMAN	R	1176	ENSP00000370744:S1176R	ENSP00000370744:S1176R	S	-	3	2	ITPR2	26646841	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	1.899000	0.39818	0.732000	0.32470	0.655000	0.94253	AGC	.		0.323	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26755574	G	C	26755574	3	2	25	1	0	0	0	0	1	0	0	0	7948	1310	46	5	4701	5	ITPR2	12	26755574	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	154	26755574	107096321	77	4157			1	5		6	6	313	G		2.457477e-17
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	26755635	26755635	+	Nonsense_Mutation	SNP	G	G	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:26755635G>C	ENST00000381340.3	-	27	3883	c.3467C>G	c.(3466-3468)tCa>tGa	p.S1156*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1156					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)	TAAAATGTTTGATTCCTAAAA	0.308																																					p.S1156X		.											.	.	.	0			c.C3467G						.						100	86	90					12																	26755635		1833	4095	5928	SO:0001587	stop_gained	3709	exon27			ATGTTTGATTCCT	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.3467C>G	12.37:g.26755635G>C	ENSP00000370744:p.Ser1156*	21	0		32	9	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	45	11.923358	0.99617	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.58	4.58	0.56647	.	0.638191	0.15072	N	0.282149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.1956	0.82024	0.0:0.0:1.0:0.0	.	.	.	.	X	1156	.	ENSP00000370744:S1156X	S	-	2	0	ITPR2	26646902	0.997000	0.39634	0.847000	0.33407	0.910000	0.53928	3.817000	0.55668	2.542000	0.85734	0.650000	0.86243	TCA	.		0.308	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26755635	G	C	26755635	4	2	25	1	0	0	0	0	0	1	0	0	7948	1294	45	5	4762	5	ITPR2	12	26755635	Nonsense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	61	26755635	107096260	78	4158			1	5		6	6	313	G		2.457477e-17
ADAMTS20	80070	hgsc.bcm.edu	37	12	43925997	43925997	+	Splice_Site	SNP	G	G	T	rs141043529		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:43925997G>T	ENST00000389420.3	-	3	454	c.455C>A	c.(454-456)aCg>aAg	p.T152K	ADAMTS20_ENST00000553158.1_Splice_Site_p.T152K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	152				T -> V (in Ref. 2; CAD56159/CAD56160). {ECO:0000305}.	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.T152M(1)|p.?(1)		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)		AAATGTTCCCGTCTGAAAATA	0.358																																					p.T152K		.											ADAMTS20_ENST00000389420,NS,carcinoma,0,6	ADAMTS20_ENST00000389420	0	2	Substitution - Missense(1)|Unknown(1)	pancreas(2)	c.C455A						.						100	105	103					12																	43925997		2202	4300	6502	SO:0001630	splice_region_variant	80070	exon3			GTTCCCGTCTGAA	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.454-1C>A	12.37:g.43925997G>T		37	0		45	2	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195859	0.38806	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05580	3.42;3.42	4.74	3.6	0.41247	Peptidase M12B, propeptide (1);	0.117171	0.36628	N	0.002492	T	0.04363	0.0120	N	0.05012	-0.13	0.80722	D	1	B	0.31931	0.347	B	0.39094	0.29	T	0.52548	-0.8561	10	0.44086	T	0.13	.	9.3807	0.38311	0.9089:0.0:0.0911:0.0	.	152	P59510	ATS20_HUMAN	K	152	ENSP00000374071:T152K;ENSP00000448341:T152K	ENSP00000374068:T152K	T	-	2	0	ADAMTS20	42212264	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.804000	0.62554	0.914000	0.36822	-0.482000	0.04802	ACG	.		0.358	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Missense_Mutation	T	43925997	G	T	43925997	5	4	25	1	0	0	0	0	0	0	1	0	266	1159	40	2	5424	2	ADAMTS20	12	43925997	Splice_Site	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	17170362	43925997	89925898	79	4159											
STAT6	6778	bcgsc.ca	37	12	57499001	57499001	+	Missense_Mutation	SNP	T	T	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:57499001T>A	ENST00000300134.3	-	9	1259	c.934A>T	c.(934-936)Agg>Tgg	p.R312W	STAT6_ENST00000537215.2_Missense_Mutation_p.R202W|STAT6_ENST00000543873.2_Missense_Mutation_p.R312W|STAT6_ENST00000454075.3_Missense_Mutation_p.R312W|STAT6_ENST00000556155.1_Missense_Mutation_p.R312W|STAT6_ENST00000538913.2_Missense_Mutation_p.R202W	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	312					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						ATGTCGGCCCTGACCAGCGGA	0.637																																					p.R312W													.	STAT6	69	0			c.A934T						.						44	46	45					12																	57499001		2203	4300	6503	SO:0001583	missense	6778	exon9			CGGCCCTGACCAG	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.934A>T	12.37:g.57499001T>A	ENSP00000300134:p.Arg312Trp	59	0		48	4	NM_001178079	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.97|19.97	3.924721|3.924721	0.73213|0.73213	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	.|T;T;T;T;T;T	.|0.77489	.|-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.37|4.37	3.2|3.2	0.36748|0.36748	.|STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	.|0.055499	.|0.64402	.|D	.|0.000001	T|T	0.81361|0.81361	0.4806|0.4806	L|L	0.43923|0.43923	1.385|1.385	0.42896|0.42896	D|D	0.994217|0.994217	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.73380	.|0.98;0.98	T|T	0.80993|0.80993	-0.1134|-0.1134	5|10	.|0.87932	.|D	.|0	-19.9088|-19.9088	9.2243|9.2243	0.37395|0.37395	0.0:0.0:0.1831:0.8169|0.0:0.0:0.1831:0.8169	.|.	.|312;312	.|A8K4S9;P42226	.|.;STAT6_HUMAN	L|W	12|312;202;202;312;312;202;312;202;312	.|ENSP00000300134:R312W;ENSP00000445409:R202W;ENSP00000438451:R312W;ENSP00000451742:R312W;ENSP00000444530:R202W;ENSP00000401486:R312W	.|ENSP00000300134:R312W	Q|R	-|-	2|1	0|2	STAT6|STAT6	55785268|55785268	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	1.066000|1.066000	0.30604|0.30604	0.699000|0.699000	0.31761|0.31761	-0.466000|-0.466000	0.05196|0.05196	CAG|AGG	.		0.637	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		A	57499001	T	A	57499001	3	1	25	1	0	0	0	0	1	0	0	0	15317	1579	55	5	1665	5	STAT6	12	57499001	Missense_Mutation	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09	13573004	57499001	76352894	80	4160											
NAV3	89795	hgsc.bcm.edu	37	12	78520946	78520946	+	Splice_Site	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:78520946G>T	ENST00000397909.2	+	17	4411		c.e17-1		NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3							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						TGTTTTAACAGCATGCAGCTT	0.333										HNSCC(70;0.22)																											.		.											NAV3,NS,carcinoma,0,1	NAV3	0	0			c.4239-1G>T						.						173	159	163					12																	78520946		1845	4085	5930	SO:0001630	splice_region_variant	89795	exon17			TTAACAGCATGCA	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.4239-1G>T	12.37:g.78520946G>T		38	0		53	3	NM_014903	Q8NFW7|Q9Y2E7	Splice_Site	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.536285	0.85812	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1726	0.98160	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV3	77045077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.183000	0.94887	2.763000	0.94921	0.650000	0.86243	.	.		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Intron	T	78520946	G	T	78520946	5	4	25	1	0	0	0	0	0	0	1	0	10223	985	34	3	4304	3	NAV3	12	78520946	Splice_Site	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	21021945	78520946	55330949	81	4161											
MTERFD3	80298	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	107371419	107371420	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	CT	CT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr12:107371419_107371420delCT	ENST00000552029.1	-	2	3141_3142	c.1073_1074delAG	c.(1072-1074)gagfs	p.E358fs	MTERFD3_ENST00000240050.4_Frame_Shift_Del_p.E358fs|MTERFD3_ENST00000392830.2_Frame_Shift_Del_p.E358fs|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TAGCTTCAAACTCTTTTTTTGA	0.356																																					p.358_359del		.											.	.	.	0			c.1074_1075del						.																																			SO:0001589	frameshift_variant	80298	exon3			TTCAAACTCTTTT																												ENST00000552029.1:c.1073_1074delAG	12.37:g.107371421_107371422delCT	ENSP00000447651:p.Glu358fs	52	0		42	15	NM_001033050	Q53HM2|Q9H4L6|Q9H7Y9	Frame_Shift_Del	DEL	ENST00000552029.1	37	CCDS9111.1																																																																																			.		0.356	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			-	107371420	CT	-	107371419	7	5	25	1	0	1	0	1	0	0	0	0	9959	564	20	0	87	0	MTERFD3	12	107371419	Frame_Shift_Del	DEL	CT	TCGA-W6-AA0S-01A-11D-A417-09	28850473	107371419	26480476	82	4162											
PCDH17	27253	hgsc.bcm.edu	37	13	58207258	58207258	+	Missense_Mutation	SNP	C	C	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr13:58207258C>A	ENST00000377918.3	+	1	604	c.578C>A	c.(577-579)cCa>cAa	p.P193Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	193	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)|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)		ACCAAGTTCCCAGAACTGGTC	0.642																																					p.P193Q	Melanoma(72;952 1291 1619 12849 33676)	.											PCDH17,colon,carcinoma,0,1	PCDH17	0	0			c.C578A						.						32	33	33					13																	58207258		2203	4300	6503	SO:0001583	missense	27253	exon1			AGTTCCCAGAACT	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.578C>A	13.37:g.58207258C>A	ENSP00000367151:p.Pro193Gln	15	0		34	2	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937197	0.73557	.	.	ENSG00000118946	ENST00000377918	T	0.55760	0.5	4.8	4.8	0.61643	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.48935	1.535	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.983;0.99	T	0.64588	-0.6372	9	.	.	.	.	18.0484	0.89340	0.0:1.0:0.0:0.0	.	193;193	O14917-2;O14917	.;PCD17_HUMAN	Q	193	ENSP00000367151:P193Q	.	P	+	2	0	PCDH17	57105259	1.000000	0.71417	0.982000	0.44146	0.971000	0.66376	7.643000	0.83403	2.511000	0.84671	0.650000	0.86243	CCA	.		0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58207258	C	A	58207258	3	1	25	1	0	0	0	0	1	0	0	0	11551	594	21	3	580	3	PCDH17	13	58207258	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09		58207258	56962620	83	4163											
ATP11A	23250	hgsc.bcm.edu	37	13	113530136	113530136	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr13:113530136C>T	ENST00000487903.1	+	28	3296	c.3208C>T	c.(3208-3210)Ctg>Ttg	p.L1070L	ATP11A_ENST00000375630.2_Silent_p.L1070L|ATP11A_ENST00000375645.3_Silent_p.L1070L|ATP11A_ENST00000283558.8_Silent_p.L1070L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1070					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)				CATCCAGATGCTGTCCAGCGG	0.627																																					p.L1070L		.											.	.	.	0			c.C3208T						.						83	78	79					13																	113530136		2203	4300	6503	SO:0001819	synonymous_variant	23250	exon28			CAGATGCTGTCCA	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.3208C>T	13.37:g.113530136C>T		67	0		109	4	NM_032189	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	1.874	-0.459518	0.04508	.	.	ENSG00000068650	ENST00000415301	.	.	.	4.79	1.48	0.22813	.	.	.	.	.	T	0.61009	0.2313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56866	-0.7908	4	.	.	.	.	11.8153	0.52207	0.0:0.8645:0.0:0.1355	.	.	.	.	V	5	.	.	A	+	2	0	ATP11A	112578137	0.880000	0.30214	0.992000	0.48379	0.053000	0.15095	-0.011000	0.12721	0.304000	0.22809	0.561000	0.74099	GCT	.		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		T	113530136	C	T	113530136	2	4	25	1	0	0	0	0	0	0	0	1	1120	796	28	3		3	ATP11A	13	113530136	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	55322878	113530136	1639742	84	4164											
POTEG	404785	bcgsc.ca	37	14	19553530	19553530	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr14:19553530C>T	ENST00000409832.3	+	1	166	c.114C>T	c.(112-114)agC>agT	p.S38S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	38										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAGGGGGAGCGGCAAGAGCA	0.592																																					p.S38S													.	POTEG	118	0			c.C114T						.						19	29	26					14																	19553530		1586	3339	4925	SO:0001819	synonymous_variant	404785	exon1			GGGGAGCGGCAAG		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.114C>T	14.37:g.19553530C>T		302	10		463	39	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	CCDS32018.1																																																																																			.		0.592	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		T	19553530	C	T	19553530	2	4	25	1	0	0	0	0	0	0	0	1	12305	767	27	1		1	POTEG	14	19553530	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09		19553530	87796010	85	4165											
ADCY4	196883	ucsc.edu;bcgsc.ca	37	14	24787682	24787682	+	Silent	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr14:24787682G>A	ENST00000310677.4	-	26	3287	c.3174C>T	c.(3172-3174)tgC>tgT	p.C1058C	ADCY4_ENST00000418030.2_Silent_p.C1058C|ADCY4_ENST00000554068.2_Silent_p.C1058C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1058					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)		GGAAGTAGGTGCAGAGCTGCC	0.527																																					p.C1058C													ADCY4,NS,carcinoma,-1,1	ADCY4	86	0			c.C3174T						.						147	131	137					14																	24787682		2203	4300	6503	SO:0001819	synonymous_variant	196883	exon26			GTAGGTGCAGAGC	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.3174C>T	14.37:g.24787682G>A		30	0		40	4	NM_139247	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																			.		0.527	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			A	24787682	G	A	24787682	2	1	25	1	0	0	0	0	0	0	0	1	296	1311	46	3		3	ADCY4	14	24787682	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	5234152	24787682	82561858	86	4166											
INO80	54617	hgsc.bcm.edu	37	15	41297827	41297827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:41297827G>T	ENST00000361937.3	-	28	3885	c.3461C>A	c.(3460-3462)tCg>tAg	p.S1154*	RP11-540O11.6_ENST00000561388.1_RNA|INO80_ENST00000561244.1_5'Flank|INO80_ENST00000401393.3_Nonsense_Mutation_p.S1154*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1154	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S1154L(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCGCCTCTCCGAGATCTTGGA	0.398																																					p.S1154X		.											INOC1,face,carcinoma,0,2	INOC1	0	2	Substitution - Missense(2)	skin(2)	c.C3461A						.						95	82	86					15																	41297827		2203	4300	6503	SO:0001587	stop_gained	54617	exon28			CTCTCCGAGATCT	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3461C>A	15.37:g.41297827G>T	ENSP00000355205:p.Ser1154*	18	0		45	2	NM_017553	A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	46	12.577148	0.99679	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.8931	0.96937	0.0:0.0:1.0:0.0	.	.	.	.	X	1154	.	ENSP00000355205:S1154X	S	-	2	0	INO80	39085119	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	9.022000	0.93678	2.873000	0.98535	0.563000	0.77884	TCG	.		0.398	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		T	41297827	G	T	41297827	4	4	25	1	0	0	0	0	0	1	0	0	7773	1059	37	2	1245	2	INO80	15	41297827	Nonsense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		41297827	61233565	87	4167											
PLA2G4E	123745	hgsc.bcm.edu	37	15	42292455	42292455	+	Silent	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:42292455G>A	ENST00000399518.3	-	8	1185	c.699C>T	c.(697-699)aaC>aaT	p.N233N	PLA2G4E_ENST00000413860.2_Silent_p.N204N|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	226					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)	p.N204N(1)		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)		CAAAGGATTCGTTCACCATCA	0.582																																					p.N233N		.											PLA2G4E,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	PLA2G4E	0	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C699T						.						40	46	44					15																	42292455		2031	4183	6214	SO:0001819	synonymous_variant	123745	exon8			GGATTCGTTCACC		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.699C>T	15.37:g.42292455G>A		29	0		46	3	NM_001206670	Q6ZSC0	Silent	SNP	ENST00000399518.3	37	CCDS55962.1																																																																																			.		0.582	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		A	42292455	G	A	42292455	2	1	25	1	0	0	0	0	0	0	0	1	12044	1136	40	1		1	PLA2G4E	15	42292455	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	994628	42292455	60238937	88	4168											
MAP1A	4130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	43818646	43818646	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:43818646G>A	ENST00000300231.5	+	4	5425	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1897K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1659K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1659					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)	TACCAGAGAGGAGCCGGCTGG	0.582																																					p.E1659K		.											.	.	.	0			c.G4975A						.						41	54	50					15																	43818646		1978	4141	6119	SO:0001583	missense	4130	exon4			AGAGAGGAGCCGG	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.4975G>A	15.37:g.43818646G>A	ENSP00000300231:p.Glu1659Lys	47	0		83	24	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.942	-0.709347	0.03230	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01745	4.66;4.66;4.66	4.19	1.09	0.20402	.	.	.	.	.	T	0.01489	0.0048	N	0.20986	0.625	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.46119	-0.9214	9	0.39692	T	0.17	-6.2385	6.4759	0.22034	0.177:0.1487:0.6743:0.0	.	1659	P78559	MAP1A_HUMAN	K	1897;1659;1659	ENSP00000371462:E1897K;ENSP00000382380:E1659K;ENSP00000300231:E1659K	ENSP00000300231:E1659K	E	+	1	0	MAP1A	41605938	0.033000	0.19621	0.312000	0.25196	0.022000	0.10575	1.562000	0.36353	0.424000	0.26061	-0.253000	0.11424	GAG	.		0.582	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		A	43818646	G	A	43818646	3	1	25	1	0	0	0	0	1	0	0	0	9265	1175	41	3	4977	3	MAP1A	15	43818646	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	1526191	43818646	58712746	89	4169											
SPATA5L1	79029	hgsc.bcm.edu	37	15	45697670	45697670	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:45697670G>T	ENST00000305560.6	+	2	1341	c.1242G>T	c.(1240-1242)gaG>gaT	p.E414D	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E414D	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	414						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.E414D(1)		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)		TCTGTAGGGAGGCTGCCATGC	0.428																																					p.E414D		.											SPATA5L1,NS,carcinoma,0,1	SPATA5L1	0	1	Substitution - Missense(1)	lung(1)	c.G1242T						.						105	88	94					15																	45697670		2198	4298	6496	SO:0001583	missense	79029	exon2			TAGGGAGGCTGCC	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.1242G>T	15.37:g.45697670G>T	ENSP00000305494:p.Glu414Asp	31	0		49	2	NM_024063	C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457023	0.43634	.	.	ENSG00000171763	ENST00000305560	D	0.95205	-3.64	5.47	1.55	0.23275	.	0.000000	0.85682	D	0.000000	D	0.92358	0.7575	M	0.77486	2.375	0.37470	D	0.915579	B	0.28584	0.216	B	0.32342	0.144	D	0.87693	0.2555	10	0.87932	D	0	-27.3202	4.708	0.12858	0.3788:0.0:0.4835:0.1377	.	414	Q9BVQ7	SPA5L_HUMAN	D	414	ENSP00000305494:E414D	ENSP00000305494:E414D	E	+	3	2	SPATA5L1	43484962	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.975000	0.29449	0.039000	0.15632	-0.122000	0.15005	GAG	.		0.428	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		T	45697670	G	T	45697670	3	4	25	1	0	0	0	0	1	0	0	0	15059	991	35	3	1248	3	SPATA5L1	15	45697670	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	1879024	45697670	56833722	90	4170											
SEMA6D	80031	hgsc.bcm.edu	37	15	48056069	48056069	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:48056069G>A	ENST00000316364.5	+	10	1209	c.770G>A	c.(769-771)cGc>cAc	p.R257H	SEMA6D_ENST00000389425.3_Missense_Mutation_p.R257H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R257H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R257H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R257H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R257H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R257H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R257H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R257H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R257H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R257H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R257H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	257	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)		CGCGTGGCCCGCATATGTAAA	0.493																																					p.R257H		.											SEMA6D_ENST00000558014,NS,carcinoma,0,2	SEMA6D_ENST00000558014	0	0			c.G770A						.						145	141	142					15																	48056069		2198	4297	6495	SO:0001583	missense	80031	exon10			TGGCCCGCATATG	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.770G>A	15.37:g.48056069G>A	ENSP00000324857:p.Arg257His	29	0		54	3	NM_153617	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755662	0.96898	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	H	0.96691	3.865	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;0.998;1.0	D	0.86618	0.1877	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	257;257;257;257;257	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	257	ENSP00000442040:R257H;ENSP00000446152:R257H;ENSP00000324857:R257H;ENSP00000374084:R257H;ENSP00000374083:R257H;ENSP00000346786:R257H;ENSP00000350770:R257H;ENSP00000374079:R257H;ENSP00000348276:R257H;ENSP00000374076:R257H	ENSP00000324857:R257H	R	+	2	0	SEMA6D	45843361	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	CGC	.		0.493	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48056069	G	A	48056069	3	1	25	1	0	0	0	0	1	0	0	0	14087	1087	38	1	804	1	SEMA6D	15	48056069	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	2358399	48056069	54475323	91	4171											
LEO1	123169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	52252121	52252121	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:52252121G>A	ENST00000299601.5	-	5	1195	c.1135C>T	c.(1135-1137)Ccc>Tcc	p.P379S	LEO1_ENST00000315141.5_Missense_Mutation_p.P379S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	379					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|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)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AGAAAGTTGGGCAGTTTAACA	0.343																																					p.P379S	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	.											.	.	.	0			c.C1135T						.						166	169	168					15																	52252121		2195	4293	6488	SO:0001583	missense	123169	exon5			AGTTGGGCAGTTT	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1135C>T	15.37:g.52252121G>A	ENSP00000299601:p.Pro379Ser	48	0		87	28	NM_138792	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827460	0.90955	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74463	-0.3657	9	0.44086	T	0.13	.	19.1638	0.93546	0.0:0.0:1.0:0.0	.	379;379	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	S	379;357;379	.	ENSP00000299601:P379S	P	-	1	0	LEO1	50039413	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.429000	0.97481	2.597000	0.87782	0.650000	0.86243	CCC	.		0.343	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		A	52252121	G	A	52252121	3	1	25	1	0	0	0	0	1	0	0	0	8754	1203	42	3	897	3	LEO1	15	52252121	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	4196052	52252121	50279271	92	4172											
MTFMT	123263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	65312553	65312553	+	Missense_Mutation	SNP	T	T	C			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:65312553T>C	ENST00000220058.4	-	5	716	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	235						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GCCCCCTCCATTGGCTGCTGC	0.408																																					p.M235V		.											.	.	.	0			c.A703G						.						36	39	38					15																	65312553		1962	4167	6129	SO:0001583	missense	123263	exon5			CCTCCATTGGCTG	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.703A>G	15.37:g.65312553T>C	ENSP00000220058:p.Met235Val	25	0		21	9	NM_139242	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	T	7.982	0.751433	0.15778	.	.	ENSG00000103707	ENST00000220058	T	0.76060	-0.99	5.38	-1.84	0.07809	Formyl transferase, N-terminal (2);	0.904156	0.09366	N	0.812066	T	0.50034	0.1592	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34725	-0.9817	10	0.41790	T	0.15	-0.1517	11.4568	0.50187	0.0:0.4566:0.0:0.5434	.	235	Q96DP5	FMT_HUMAN	V	235	ENSP00000220058:M235V	ENSP00000220058:M235V	M	-	1	0	MTFMT	63099606	0.000000	0.05858	0.006000	0.13384	0.668000	0.39293	-0.989000	0.03736	-0.209000	0.10156	0.533000	0.62120	ATG	.		0.408	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		C	65312553	T	C	65312553	3	2	25	1	0	0	0	0	1	0	0	0	9962	1493	52	4	486	4	MTFMT	15	65312553	Missense_Mutation	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09	13060432	65312553	37218839	93	4173											
SLC28A1	9154	hgsc.bcm.edu	37	15	85438311	85438311	+	Missense_Mutation	SNP	C	C	G	rs151038463	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:85438311C>G	ENST00000286749.3	+	5	508	c.418C>G	c.(418-420)Ctc>Gtc	p.L140V	SLC28A1_ENST00000537624.1_Missense_Mutation_p.L140V|SLC28A1_ENST00000338602.2_Missense_Mutation_p.L140V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L140V|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L140V|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L62V|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L140V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	140			L -> LV (in A). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9124315}.		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)	p.L140_K141insV(2)		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)	GAGGAGGTTTCTCAAGCCTCA	0.637																																					p.L140V		.											.,4	.	118	2	Insertion - In frame(2)	lung(2)	c.C418G						.						45	47	46					15																	85438311		2203	4298	6501	SO:0001583	missense	9154	exon6			AGGTTTCTCAAGC	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.418C>G	15.37:g.85438311C>G	ENSP00000286749:p.Leu140Val	42	0		69	2	NM_201651	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	1.612	-0.523846	0.04141	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	4.58	-2.54	0.06307	.	0.777035	0.12231	N	0.487478	T	0.53110	0.1776	N	0.05158	-0.105	0.09310	N	1	B;B;B;B;B;B	0.18013	0.001;0.01;0.025;0.002;0.001;0.008	B;B;B;B;B;B	0.21360	0.008;0.024;0.034;0.002;0.008;0.002	T	0.39623	-0.9605	10	0.38643	T	0.18	0.0017	1.2716	0.02022	0.2759:0.3261:0.2631:0.1349	.	140;140;140;62;140;140	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337;O00337-2	.;.;.;.;S28A1_HUMAN;.	V	140;140;140;140;140;140;62	ENSP00000341629:L140V;ENSP00000440546:L140V;ENSP00000443752:L140V;ENSP00000444700:L140V;ENSP00000286749:L140V;ENSP00000378074:L140V;ENSP00000443764:L62V	ENSP00000286749:L140V	L	+	1	0	SLC28A1	83239315	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.742000	0.04850	-0.243000	0.09653	-0.868000	0.02995	CTC	.		0.637	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			G	85438311	C	G	85438311	3	3	25	1	0	0	0	0	1	0	0	0	14576	913	32	5	432	5	SLC28A1	15	85438311	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	20125758	85438311	17093081	94	4174											
AKAP13	11214	hgsc.bcm.edu	37	15	86284600	86284600	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:86284600G>T	ENST00000394518.2	+	35	8027	c.7932G>T	c.(7930-7932)aaG>aaT	p.K2644N	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.K889N|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.K2648N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2644	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.K2648K(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCAGAAGAAGGGCACATACC	0.667																																					p.K2648N	Melanoma(94;603 1453 3280 32295 32951)	.											AKAP13,brain,glioma,0,1	AKAP13	0	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G7944T						.						50	46	47					15																	86284600		2199	4299	6498	SO:0001583	missense	11214	exon35			GAAGAAGGGCACA	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.7932G>T	15.37:g.86284600G>T	ENSP00000378026:p.Lys2644Asn	35	0		46	2	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694479	0.30052	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.22743	1.94;1.94;1.94	5.47	2.53	0.30540	.	.	.	.	.	T	0.22166	0.0534	M	0.65975	2.015	0.09310	N	0.999999	B;B	0.32382	0.252;0.368	B;B	0.32677	0.071;0.15	T	0.15694	-1.0428	9	0.48119	T	0.1	.	7.0348	0.24987	0.2036:0.0:0.6735:0.1229	.	2644;2648	Q12802;Q12802-2	AKP13_HUMAN;.	N	2648;2644;2647;2623;889	ENSP00000354718:K2648N;ENSP00000378026:K2644N;ENSP00000378018:K889N	ENSP00000354718:K2648N	K	+	3	2	AKAP13	84085604	1.000000	0.71417	0.080000	0.20451	0.626000	0.37791	1.154000	0.31688	0.664000	0.31047	-0.140000	0.14226	AAG	.		0.667	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86284600	G	T	86284600	3	4	25	1	0	0	0	0	1	0	0	0	449	991	35	3	8136	3	AKAP13	15	86284600	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	846289	86284600	16246792	95	4175											
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																p.R172K		.		Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	IDH2,NS,haematopoietic_neoplasm,0,179	IDH2	0	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	c.G515A						.						85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418	exon4			GCGTGCCTGCCAA		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys	37	0		39	11	NM_002168	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG	.		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			T	90631838	C	T	90631838	3	4	25	1	0	0	0	0	1	0	0	0	7522	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	4347238	90631838	11899554	96	4176											
SMG1	23049	broad.mit.edu	37	16	18882689	18882690	+	Missense_Mutation	DNP	TG	TG	CA			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	TG	TG						Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr16:18882689_18882690TG>CA	ENST00000446231.2	-	16	2710_2711	c.2298_2299CA>TG	c.(2296-2301)gcCAac>gcTGac	p.N767D	SMG1_ENST00000389467.3_Missense_Mutation_p.N767D|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	767	Interaction with SMG8 and SMG9.				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						GTCTTACTGTTGGCTAAAAGGC	0.366																																					p.N767D													.	SMG1	401	0			c.C2298T						.																																			SO:0001583	missense	23049	exon16			ACTGTTGGCTAAA	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.2298_2299delinsCA	16.37:g.18882689_18882690delinsCA	ENSP00000402515:p.Asn767Asp	177	0		277	12	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	DNP	ENST00000446231.2	37	CCDS45430.1																																																																																			.		0.366	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		CA	18882690	TG	CA	18882689	3	2	25	1	0	0	0	0	1	0	0	0	14840	1812	63	4	8878	4	SMG1	16	18882689	Missense_Mutation	DNP	TG	TCGA-W6-AA0S-01A-11D-A417-09		18882689	71472064	97	4177											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	30749940	30749940	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr16:30749940delG	ENST00000262518.4	+	34	8964	c.8579delG	c.(8578-8580)aggfs	p.R2860fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.R2798fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.R2702fs|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2860	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)			AAACGTCGGAGGGGGAGGCCC	0.617																																					p.R2860fs		.											.	.	.	0			c.8578delA						.						45	45	45					16																	30749940		2197	4300	6497	SO:0001589	frameshift_variant	10847	exon34			GTCGGAGGGGGAG	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.8579delG	16.37:g.30749940delG	ENSP00000262518:p.Arg2860fs	39	0		65	17	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	CCDS10689.2																																																																																			.		0.617	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		-	30749940	G	-	30749940	7	5	25	1	0	1	0	1	0	0	0	0	15182	1000	35	0	8705	0	SRCAP	16	30749940	Frame_Shift_Del	DEL	G	TCGA-W6-AA0S-01A-11D-A417-09	11867251	30749940	59604813	98	4178											
HSF4	3299	hgsc.bcm.edu	37	16	67203243	67203243	+	Missense_Mutation	SNP	C	C	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr16:67203243C>A	ENST00000521374.1	+	12	1316	c.1316C>A	c.(1315-1317)cCa>cAa	p.P439Q	NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.P439Q|HSF4_ENST00000421453.1_Missense_Mutation_p.P409Q|HSF4_ENST00000584272.1_Missense_Mutation_p.P409Q|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	439					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TTAAATTCTCCAAGCCCAGGT	0.587																																					p.P439Q		.											.	.	.	0			c.C1316A						.						31	34	33					16																	67203243		1987	4172	6159	SO:0001583	missense	3299	exon14			ATTCTCCAAGCCC	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1316C>A	16.37:g.67203243C>A	ENSP00000430947:p.Pro439Gln	24	0		77	4	NM_001040667	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.535167|2.535167	0.45176|0.45176	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374|ENST00000520304	.|.	.|.	.|.	4.6|4.6	3.63|3.63	0.41609|0.41609	.|.	0.610177|.	0.15435|.	N|.	0.262505|.	T|T	0.32496|0.32496	0.0831|0.0831	L|L	0.27053|0.27053	0.805|0.805	0.23876|0.23876	N|N	0.996598|0.996598	B;B|.	0.15473|.	0.013;0.008|.	B;B|.	0.14578|.	0.011;0.003|.	T|T	0.18587|0.18587	-1.0332|-1.0332	9|5	0.72032|.	D|.	0.01|.	1.2143|1.2143	9.3009|9.3009	0.37845|0.37845	0.2467:0.7533:0.0:0.0|0.2467:0.7533:0.0:0.0	.|.	409;439|.	Q9ULV5-2;Q9ULV5|.	.;HSF4_HUMAN|.	Q|K	409;439;363;439|115	.|.	ENSP00000264009:P439Q|.	P|Q	+|+	2|1	0|0	HSF4|HSF4	65760744|65760744	0.013000|0.013000	0.17824|0.17824	0.874000|0.874000	0.34290|0.34290	0.987000|0.987000	0.75469|0.75469	0.948000|0.948000	0.29096|0.29096	1.059000|1.059000	0.40554|0.40554	0.563000|0.563000	0.77884|0.77884	CCA|CAA	.		0.587	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		A	67203243	C	A	67203243	3	1	25	1	0	0	0	0	1	0	0	0	7425	594	21	3	1376	3	HSF4	16	67203243	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	36453303	67203243	23151510	99	4179											
ZCCHC14	23174	hgsc.bcm.edu	37	16	87443922	87443922	+	Silent	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr16:87443922G>A	ENST00000268616.4	-	13	3031	c.2814C>T	c.(2812-2814)taC>taT	p.Y938Y		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	938							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)		CTGGAGGGGCGTATTTCAACC	0.408																																					p.Y938Y		.											.	.	.	0			c.C2814T						.						120	126	124					16																	87443922		2198	4300	6498	SO:0001819	synonymous_variant	23174	exon13			AGGGGCGTATTTC	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.2814C>T	16.37:g.87443922G>A		67	0		98	4	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	CCDS10961.1																																																																																			.		0.408	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		A	87443922	G	A	87443922	2	1	25	1	0	0	0	0	0	0	0	1	17631	1140	40	1		1	ZCCHC14	16	87443922	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	20240679	87443922	2910831	100	4180											
MVD	4597	hgsc.bcm.edu	37	16	88721779	88721779	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr16:88721779C>T	ENST00000301012.3	-	7	754	c.725G>A	c.(724-726)cGc>cAc	p.R242H	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	242					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCGGATGCAGCGGGCCATCTC	0.667																																					p.R242H		.											MVD,NS,carcinoma,0,1	MVD	0	0			c.G725A						.						163	124	137					16																	88721779		2184	4295	6479	SO:0001583	missense	4597	exon7			ATGCAGCGGGCCA	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.725G>A	16.37:g.88721779C>T	ENSP00000301012:p.Arg242His	23	0		48	3	NM_002461	Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	C	8.703	0.910219	0.17833	.	.	ENSG00000167508	ENST00000301012	T	0.43294	0.95	4.53	-2.71	0.05986	.	0.583782	0.19499	N	0.112791	T	0.40498	0.1119	M	0.77820	2.39	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.41752	-0.9491	10	0.59425	D	0.04	-12.2247	11.6986	0.51558	0.0:0.452:0.0:0.548	.	242	P53602	MVD1_HUMAN	H	242	ENSP00000301012:R242H	ENSP00000301012:R242H	R	-	2	0	MVD	87249280	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.171000	0.09883	-0.739000	0.04809	-0.339000	0.08088	CGC	.		0.667	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		T	88721779	C	T	88721779	3	4	25	1	0	0	0	0	1	0	0	0	10032	768	27	1	493	1	MVD	16	88721779	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	1277857	88721779	1632974	101	4181											
PABPN1L	390748	broad.mit.edu	37	16	88930645	88930645	+	Splice_Site	SNP	C	C	T	rs545706965	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr16:88930645C>T	ENST00000419291.2	-	6	808	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	PABPN1L_ENST00000411789.2_Splice_Site_p.G237R|PABPN1L_ENST00000378358.4_Splice_Site_p.R266Q|PABPN1L_ENST00000427766.1_Splice_Site_p.P230P	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	266						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						ACCCACTCACCGGTTCTGCCC	0.726													.|||	3	0.000599042	0	0	5008	,	,		11772	0		0	False		,,,				2504	0.0031				p.R266Q													.	PABPN1L	25	0			c.G797A						.						12	15	14					16																	88930645		1854	4027	5881	SO:0001630	splice_region_variant	390748	exon6			ACTCACCGGTTCT		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.797+1G>A	16.37:g.88930645C>T		19	0		35	3	NM_001080487	A1L3B3|A2VDI2	Splice_Site	SNP	ENST00000419291.2	37	CCDS45547.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.032220|4.032220	0.75504|0.75504	.|.	.|.	ENSG00000205022|ENSG00000205022	ENST00000411789|ENST00000378358;ENST00000419291	.|T;T	.|0.15718	.|2.4;2.52	4.52|4.52	1.31|1.31	0.21738|0.21738	.|.	.|0.078134	.|0.48286	.|D	.|0.000186	T|T	0.22322|0.22322	0.0538|0.0538	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	B|P;P	0.27791|0.48589	0.189|0.513;0.912	B|B;B	0.25884|0.44108	0.064|0.018;0.441	T|T	0.02126|0.02126	-1.1209|-1.1209	7|9	.|.	.|.	.|.	.|.	4.3021|4.3021	0.10930|0.10930	0.16:0.5969:0.1548:0.0883|0.16:0.5969:0.1548:0.0883	.|.	237|266;266	A6NDY0-2|A6NDY0;A6NDY0-4	.|EPAB2_HUMAN;.	R|Q	237|266	.|ENSP00000367609:R266Q;ENSP00000408598:R266Q	.|.	G|R	-|-	1|2	0|0	PABPN1L|PABPN1L	87458146|87458146	0.031000|0.031000	0.19500|0.19500	0.049000|0.049000	0.19019|0.19019	0.132000|0.132000	0.20833|0.20833	0.408000|0.408000	0.21065|0.21065	0.089000|0.089000	0.17243|0.17243	-1.473000|-1.473000	0.01005|0.01005	GGG|CGG	.		0.726	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407502.1	NM_001080487	Missense_Mutation	T	88930645	C	T	88930645	5	4	25	1	0	0	0	0	0	0	1	0	11408	666	23	1	79	1	PABPN1L	16	88930645	Splice_Site	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	208866	88930645	1424108	102	4182											
DNAH2	146754	hgsc.bcm.edu	37	17	7630469	7630469	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:7630469G>T	ENST00000572933.1	+	4	1718	c.258G>T	c.(256-258)ctG>ctT	p.L86L	DNAH2_ENST00000389173.2_Silent_p.L86L|DNAH2_ENST00000570791.1_Silent_p.L86L|DNAH2_ENST00000082259.3_Silent_p.L86L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	86	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)				GAGCTGCGCTGACAGGACTGG	0.532																																					p.L86L		.											.	.	.	0			c.G258T						.						146	115	125					17																	7630469		2203	4300	6503	SO:0001819	synonymous_variant	146754	exon3			TGCGCTGACAGGA	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.258G>T	17.37:g.7630469G>T		37	0		32	3	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																			.		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7630469	G	T	7630469	2	4	25	1	0	0	0	0	0	0	0	1	4616	1277	45	3		3	DNAH2	17	7630469	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		7630469	73564741	103	4183											
KDM6B	23135	hgsc.bcm.edu	37	17	7750177	7750177	+	Missense_Mutation	SNP	T	T	C	rs375218857|rs61462443		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:7750177T>C	ENST00000448097.2	+	9	1083	c.752T>C	c.(751-753)tTa>tCa	p.L251S	KDM6B_ENST00000254846.5_Missense_Mutation_p.L251S			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	251	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccacca	0.612																																					p.L251S		.											.,2	.	95	0			c.T752C						.						30	27	28					17																	7750177		2195	4284	6479	SO:0001583	missense	23135	exon9			CACCATTACCACC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.752T>C	17.37:g.7750177T>C	ENSP00000412513:p.Leu251Ser	13	1		15	2	NM_001080424	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	T	5.427	0.264015	0.10294	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.36520	1.25;1.25	5.23	3.0	0.34707	.	1.773790	0.04118	U	0.315852	T	0.18383	0.0441	N	0.08118	0	0.09310	N	1	B	0.25609	0.13	B	0.21917	0.037	T	0.25012	-1.0144	10	0.15499	T	0.54	0.3492	3.4931	0.07645	0.1653:0.1862:0.0:0.6486	.	251	O15054-1	.	S	251	ENSP00000254846:L251S;ENSP00000412513:L251S	ENSP00000254846:L251S	L	+	2	0	KDM6B	7690902	0.726000	0.28059	0.844000	0.33320	0.850000	0.48378	0.575000	0.23729	0.410000	0.25675	0.379000	0.24179	TTA	.		0.612	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		C	7750177	T	C	7750177	3	2	25	1	0	0	0	0	1	0	0	0	8165	1764	61	4	774	4	KDM6B	17	7750177	Missense_Mutation	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09	119708	7750177	73445033	104	4184											
TRAF4	9618	hgsc.bcm.edu;broad.mit.edu	37	17	27071215	27071215	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:27071215G>A	ENST00000262395.5	+	1	214	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	TRAF4_ENST00000262396.6_Missense_Mutation_p.V29M|TRAF4_ENST00000444415.3_Missense_Mutation_p.V29M|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA|AC010761.6_ENST00000584779.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	29					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCGCGAGCCTGTGCAGGTTTC	0.697																																					p.V29M		.											.	.	.	0			c.G85A						.						21	24	23					17																	27071215		2203	4298	6501	SO:0001583	missense	9618	exon1			GAGCCTGTGCAGG	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.85G>A	17.37:g.27071215G>A	ENSP00000262395:p.Val29Met	16	0		11	6	NM_004295	O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	g	16.28	3.079523	0.55753	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396;ENST00000394924;ENST00000394925	D;T;D;D	0.86432	-2.12;1.85;-2.12;-2.12	4.61	2.62	0.31277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.074205	0.53938	D	0.000047	D	0.91640	0.7358	M	0.77406	2.37	0.35382	D	0.789984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.961	D	0.91897	0.5528	10	0.62326	D	0.03	.	7.9367	0.29933	0.1937:0.0:0.8063:0.0	.	29;29	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	M	29	ENSP00000262395:V29M;ENSP00000415789:V29M;ENSP00000438154:V29M;ENSP00000262396:V29M	ENSP00000262395:V29M	V	+	1	0	TRAF4	24095342	1.000000	0.71417	0.989000	0.46669	0.121000	0.20230	5.444000	0.66587	0.399000	0.25367	0.538000	0.68166	GTG	.		0.697	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		A	27071215	G	A	27071215	3	1	25	1	0	0	0	0	1	0	0	0	16491	1377	48	3	87	3	TRAF4	17	27071215	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	19321038	27071215	54123995	105	4185											
LIG3	3980	hgsc.bcm.edu	37	17	33310393	33310393	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:33310393G>T	ENST00000378526.4	+	2	502	c.369G>T	c.(367-369)gtG>gtT	p.V123V	LIG3_ENST00000262327.5_Silent_p.V123V|LIG3_ENST00000586407.1_Intron	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	123					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GCAAAGTGGTGCCCAATCCCT	0.493								Other BER factors																													p.V123V		.											.	.	.	0			c.G369T						.						74	69	71					17																	33310393		2203	4300	6503	SO:0001819	synonymous_variant	3980	exon2			AGTGGTGCCCAAT		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.369G>T	17.37:g.33310393G>T		45	0		87	4	NM_013975	Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	CCDS11284.2																																																																																			.		0.493	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		T	33310393	G	T	33310393	2	4	25	1	0	0	0	0	0	0	0	1	8811	1306	46	3		3	LIG3	17	33310393	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	6239178	33310393	47884817	106	4186											
GPR179	440435	hgsc.bcm.edu	37	17	36495366	36495366	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:36495366G>T	ENST00000342292.4	-	2	857	c.837C>A	c.(835-837)atC>atA	p.I279I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	279					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I279M(1)		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)				CACACTGATTGATGTCCACAC	0.542																																					p.I279I		.											GPR179,rectum,carcinoma,-1,1	GPR179	-1	1	Substitution - Missense(1)	ovary(1)	c.C837A						.						126	127	127					17																	36495366		2133	4229	6362	SO:0001819	synonymous_variant	440435	exon2			CTGATTGATGTCC		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.837C>A	17.37:g.36495366G>T		34	0		45	2	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			.		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36495366	G	T	36495366	2	4	25	1	0	0	0	0	0	0	0	1	6700	1280	45	3		3	GPR179	17	36495366	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	3184973	36495366	44699844	107	4187											
NFE2L1	4779	hgsc.bcm.edu;broad.mit.edu	37	17	46136201	46136212	+	In_Frame_Del	DEL	CTTCTTCCTCTG	CTTCTTCCTCTG	-	rs539093913		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	CTTCTTCCTCTG	CTTCTTCCTCTG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:46136201_46136212delCTTCTTCCTCTG	ENST00000362042.3	+	6	2133_2144	c.1517_1528delCTTCTTCCTCTG	c.(1516-1530)tcttcttcctctgct>tct	p.SSSA511del	NFE2L1_ENST00000585291.1_In_Frame_Del_p.SSSA481del|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000357480.5_In_Frame_Del_p.SSSA481del|NFE2L1_ENST00000361665.3_In_Frame_Del_p.SSSA500del|NFE2L1_ENST00000582155.1_In_Frame_Del_p.SSSA323del|NFE2L1_ENST00000536222.1_In_Frame_Del_p.SSSA355del|NFE2L1_ENST00000583378.1_In_Frame_Del_p.SSSA312del	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	511	Poly-Ser.				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						tcctcttcctcttcttcctctgcttcttcctc	0.542																																					p.506_509del		.											.	.	.	0			c.1516_1527del						.			6,4256		0,6,2125						2.5	0.1			67	9,8245		2,5,4120	no	coding	NFE2L1	NM_003204.2		2,11,6245	A1A1,A1R,RR		0.109,0.1408,0.1198				15,12501				SO:0001651	inframe_deletion	4779	exon6			CTTCCTCTTCTTC	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1517_1528delCTTCTTCCTCTG	17.37:g.46136201_46136212delCTTCTTCCTCTG	ENSP00000354855:p.Ser511_Ala514del	9	0		21	6	NM_003204	D3DTU3|D3DTU5|Q12877|Q96FN6	In_Frame_Del	DEL	ENST00000362042.3	37	CCDS11524.1																																																																																			.		0.542	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		-	46136212	CTTCTTCCTCTG	-	46136201	7	5	25	1	0	1	0	1	0	0	0	0	10406	913	32	0	1535	0	NFE2L1	17	46136201	In_Frame_Del	DEL	CTTCTTCCTCTG	TCGA-W6-AA0S-01A-11D-A417-09	9640835	46136201	35059009	108	4188											
WFIKKN2	124857	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	48913377	48913377	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:48913377G>T	ENST00000311378.4	+	1	607	c.79G>T	c.(79-81)Ggg>Tgg	p.G27W	WFIKKN2_ENST00000426127.1_Intron	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	27					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)			gctactgctCGGGGTGCCCCC	0.682																																					p.G27W		.											.	.	.	0			c.G79T						.						15	15	15					17																	48913377		2194	4292	6486	SO:0001583	missense	124857	exon1			CTGCTCGGGGTGC	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.79G>T	17.37:g.48913377G>T	ENSP00000311184:p.Gly27Trp	41	0		70	23	NM_175575	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975068	0.18736	.	.	ENSG00000173714	ENST00000311378	T	0.81078	-1.45	5.24	4.25	0.50352	.	0.536026	0.19882	N	0.103943	T	0.61148	0.2324	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.51044	-0.8755	10	0.37606	T	0.19	.	8.3184	0.32115	0.0786:0.0:0.7648:0.1567	.	27	Q8TEU8	WFKN2_HUMAN	W	27	ENSP00000311184:G27W	ENSP00000311184:G27W	G	+	1	0	WFIKKN2	46268376	0.391000	0.25221	0.327000	0.25402	0.117000	0.20001	0.897000	0.28390	1.172000	0.42781	0.655000	0.94253	GGG	.		0.682	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		T	48913377	G	T	48913377	3	4	25	1	0	0	0	0	1	0	0	0	17408	1116	39	2	81	2	WFIKKN2	17	48913377	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	2777176	48913377	32281833	109	4189											
KIF2B	84643	hgsc.bcm.edu	37	17	51902198	51902198	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:51902198C>T	ENST00000268919.4	+	1	1960	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	602					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)	p.P602S(1)		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						TGAAACATTACCCACTCTGTT	0.423																																					p.P602S		.											KIF2B,NS,carcinoma,0,1	KIF2B	0	1	Substitution - Missense(1)	lung(1)	c.C1804T						.						161	152	155					17																	51902198		2203	4300	6503	SO:0001583	missense	84643	exon1			ACATTACCCACTC	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.1804C>T	17.37:g.51902198C>T	ENSP00000268919:p.Pro602Ser	23	0		33	2	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.870922	0.00062	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.72167	-0.63	5.14	-7.98	0.01135	.	6.653280	0.00357	N	0.000026	T	0.43612	0.1255	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.21540	T	0.41	.	4.9708	0.14115	0.0976:0.1842:0.4985:0.2197	.	602	Q8N4N8	KIF2B_HUMAN	S	602;490	ENSP00000268919:P602S	ENSP00000268919:P602S	P	+	1	0	KIF2B	49257197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.212000	0.02994	-1.989000	0.00979	-3.555000	0.00030	CCC	.		0.423	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51902198	C	T	51902198	3	4	25	1	0	0	0	0	1	0	0	0	8325	507	18	3	1806	3	KIF2B	17	51902198	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	2988821	51902198	29293012	110	4190											
MAP3K3	4215	hgsc.bcm.edu;bcgsc.ca	37	17	61767703	61767703	+	Silent	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:61767703C>T	ENST00000361733.3	+	12	1463	c.1143C>T	c.(1141-1143)gaC>gaT	p.D381D	MAP3K3_ENST00000579585.1_Silent_p.D412D|MAP3K3_ENST00000361357.3_Silent_p.D412D|MAP3K3_ENST00000584573.1_Silent_p.D408D|MAP3K3_ENST00000577395.1_Silent_p.D377D	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGTGCTATGACGTGGACACGG	0.557																																					p.D412D		.											.	.	.	0			c.C1236T						.						95	84	88					17																	61767703		2203	4300	6503	SO:0001819	synonymous_variant	4215	exon13			CTATGACGTGGAC	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1143C>T	17.37:g.61767703C>T		31	0		47	4	NM_203351	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	CCDS32702.1																																																																																			.		0.557	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		T	61767703	C	T	61767703	2	4	25	1	0	0	0	0	0	0	0	1	9289	535	19	1		1	MAP3K3	17	61767703	Silent	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	9865505	61767703	19427507	111	4191											
DDX5	1655	hgsc.bcm.edu	37	17	62496866	62496866	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr17:62496866G>T	ENST00000225792.5	-	12	1643	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Silent_p.I414I|DDX5_ENST00000450599.2_Silent_p.I335I	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	414	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			AGTCATAATTGATGACAAATT	0.403			T	ETV4	prostate																																p.I414I	NSCLC(22;406 813 4871 19580 40307)	.		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	DDX5_ENST00000540698,NS,carcinoma,0,2	DDX5_ENST00000540698	0	0			c.C1242A						.						120	106	111					17																	62496866		2203	4300	6503	SO:0001819	synonymous_variant	1655	exon12			ATAATTGATGACA	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.1242C>A	17.37:g.62496866G>T		29	0		38	2	NM_004396	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	37	CCDS11659.1																																																																																			.		0.403	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		T	62496866	G	T	62496866	2	4	25	1	0	0	0	0	0	0	0	1	4376	1280	45	3		3	DDX5	17	62496866	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	729163	62496866	18698344	112	4192											
DENND1C	79958	hgsc.bcm.edu	37	19	6476920	6476920	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr19:6476920G>A	ENST00000381480.2	-	10	738	c.626C>T	c.(625-627)gCg>gTg	p.A209V	DENND1C_ENST00000543576.1_Missense_Mutation_p.A165V|DENND1C_ENST00000591030.1_5'Flank	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	209	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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						CAGGAGCGCCGCGAACAGCCC	0.692																																					p.A209V		.											DENND1C_ENST00000381480,colon,carcinoma,0,2	DENND1C_ENST00000381480	0	0			c.C626T						.						34	41	39					19																	6476920		1993	4158	6151	SO:0001583	missense	79958	exon10			AGCGCCGCGAACA	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.626C>T	19.37:g.6476920G>A	ENSP00000370889:p.Ala209Val	31	0		42	2	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.638749	0.87760	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11930	2.73;2.73	4.73	3.65	0.41850	DENN (3);	0.387112	0.25648	N	0.029223	T	0.36054	0.0953	M	0.77712	2.385	0.42608	D	0.9933	D	0.89917	1.0	D	0.79784	0.993	T	0.26087	-1.0113	10	0.87932	D	0	-9.7937	12.1118	0.53844	0.0:0.221:0.779:0.0	.	209	Q8IV53	DEN1C_HUMAN	V	209;165	ENSP00000370889:A209V;ENSP00000437805:A165V	ENSP00000370889:A209V	A	-	2	0	DENND1C	6427920	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	3.652000	0.54439	2.173000	0.68751	0.556000	0.70494	GCG	.		0.692	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		A	6476920	G	A	6476920	3	1	25	1	0	0	0	0	1	0	0	0	4442	1087	38	1	1835	1	DENND1C	19	6476920	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09		6476920	52652063	113	4193											
RPS28	6234	hgsc.bcm.edu	37	19	8386428	8386428	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr19:8386428G>A	ENST00000600659.2	+	1	45	c.14G>A	c.(13-15)cGt>cAt	p.R5H	NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	5					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										GACACCAGCCGTGTGCAGCCT	0.657																																					p.R5H		.											.	.	.	0			c.G14A						.						5	6	6					19																	8386428		1905	4030	5935	SO:0001583	missense	6234	exon1			CCAGCCGTGTGCA	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"S ribosomal proteins"	10418	protein-coding gene	gene with protein product	"40S ribosomal protein S28"	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.14G>A	19.37:g.8386428G>A	ENSP00000472469:p.Arg5His	58	0		83	4	NM_001031	P25112	Missense_Mutation	SNP	ENST00000600659.2	37	CCDS45953.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147238	0.37923	.	.	ENSG00000233927	ENST00000417088	.	.	.	5.08	4.0	0.46444	Nucleic acid-binding, OB-fold-like (1);	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.14615	-1.0466	7	0.07325	T	0.83	.	13.8376	0.63419	0.0:0.0:0.8473:0.1527	.	5	P62857	RS28_HUMAN	H	5	.	ENSP00000397872:R5H	R	+	2	0	RPS28	8292428	1.000000	0.71417	0.675000	0.29917	0.148000	0.21650	5.803000	0.69129	2.626000	0.88956	0.561000	0.74099	CGT	.		0.657	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		A	8386428	G	A	8386428	3	1	25	1	0	0	0	0	1	0	0	0	13686	1145	40	1	16	1	RPS28	19	8386428	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	1909508	8386428	50742555	114	4194											
CACNA1A	773	hgsc.bcm.edu	37	19	13318673	13318690	+	In_Frame_Del	DEL	CTGCTGCTGCTGCTGCTG	CTGCTGCTGCTGCTGCTG	-	rs16054|rs370146696	byFrequency	TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	CTGCTGCTGCTGCTGCTG	CTGCTGCTGCTGCTGCTG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr19:13318673_13318690delCTGCTGCTGCTGCTGCTG	ENST00000360228.5	-	47	6957_6974	c.6958_6975delCAGCAGCAGCAGCAGCAG	c.(6958-6975)cagcagcagcagcagcagdel	p.QQQQQQ2320del	CACNA1A_ENST00000573710.2_3'UTR	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	2319	Poly-Gln.				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)	TGGCCACCGCctgctgctgctgctgctgctgctgctgc	0.771																																					p.2320_2326del		.											.	.	.	0			c.6959_6976del						.																																			SO:0001651	inframe_deletion	773	exon47			CACCGCCTGCTGC	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.6958_6975delCAGCAGCAGCAGCAGCAG	19.37:g.13318673_13318690delCTGCTGCTGCTGCTGCTG	ENSP00000353362:p.Gln2320_Gln2325del	8	0		10	3	NM_001127222	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	ENST00000360228.5	37	CCDS45998.1																																																																																			.		0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		-	13318690	CTGCTGCTGCTGCTGCTG	-	13318673	7	5	25	1	0	1	0	1	0	0	0	0	2545	680	24	0	549	0	CACNA1A	19	13318673	In_Frame_Del	DEL	CTGCTGCTGCTGCTGCTG	TCGA-W6-AA0S-01A-11D-A417-09	4932245	13318673	45810310	115	4195											
KIAA1683	80726	broad.mit.edu	37	19	18377943	18377943	+	Missense_Mutation	SNP	G	G	T	rs531584807		TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr19:18377943G>T	ENST00000600328.3	-	3	600	c.407C>A	c.(406-408)gCc>gAc	p.A136D	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A90D|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A136D			Q9H0B3	K1683_HUMAN	KIAA1683	136						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						GCGCCGCCAGGCCTCCTGGAT	0.597																																					p.A136D													.	KIAA1683	190	0			c.C407A						.						57	56	56					19																	18377943		2203	4300	6503	SO:0001583	missense	80726	exon3			CGCCAGGCCTCCT	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.407C>A	19.37:g.18377943G>T	ENSP00000470780:p.Ala136Asp	20	0		36	5	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223893	0.39300	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.73152	-0.72;-0.72;-0.72	4.06	1.89	0.25635	.	0.243684	0.21342	N	0.076120	T	0.67776	0.2929	L	0.32530	0.975	0.23266	N	0.998013	D;D	0.69078	0.997;0.997	P;P	0.59115	0.852;0.852	T	0.55995	-0.8052	10	0.87932	D	0	-12.346	6.0576	0.19820	0.2231:0.0:0.7769:0.0	.	136;136	E9PDE0;Q9H0B3	.;K1683_HUMAN	D	136;136;90;135;136	ENSP00000376213:A136D;ENSP00000352774:A136D;ENSP00000404501:A90D	ENSP00000351198:A135D	A	-	2	0	KIAA1683	18238943	0.997000	0.39634	0.997000	0.53966	0.095000	0.18619	1.167000	0.31847	1.821000	0.53095	0.313000	0.20887	GCC	.		0.597	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			T	18377943	G	T	18377943	3	4	25	1	0	0	0	0	1	0	0	0	8278	1203	42	3	3704	3	KIAA1683	19	18377943	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	5059270	18377943	40751040	116	4196											
BAGE2	85319	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	11049582	11049582	+	RNA	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr21:11049582C>T	ENST00000470054.1	-	0	526							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		TAAGAGGTCTCCCGGGCTGTC	0.398																																					p.E107K		.											.	.	.	0			c.G319A						.						71	56	61					21																	11049582		692	1590	2282			85318	exon4			AGGTCTCCCGGGC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049582C>T		114	0		147	8	NM_182481	A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																				.		0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		T	11049582	C	T	11049582	1	4	25	0	1	0	0	0	0	0	0	0	1293	864	30	3		3	BAGE2	21	11049582	RNA	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09		11049582	37080313	117	4197											
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Silent	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr21:34045776G>T	ENST00000322229.7	-	13	1599	c.1600C>A	c.(1600-1602)Cga>Aga	p.R534R	SYNJ1_ENST00000382491.3_Silent_p.R529R|SYNJ1_ENST00000357345.3_Silent_p.R534R|SYNJ1_ENST00000382499.2_Silent_p.R573R|SYNJ1_ENST00000433931.2_Silent_p.R573R			O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388																																					p.R573R													SYNJ1,colon,carcinoma,0,2	SYNJ1	253	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1717A						.						95	91	92					21																	34045776		2203	4300	6503	SO:0001819	synonymous_variant	8867	exon14			ATACTCGAATTTT	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1600C>A	21.37:g.34045776G>T		42	0		38	3	NM_203446	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																			.		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	34045776	G	T	34045776	2	4	25	1	0	0	0	0	0	0	0	1	15499	1066	37	2		2	SYNJ1	21	34045776	Silent	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	22996194	34045776	14084119	118	4198											
NF2	4771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	30064437	30064437	+	Splice_Site	SNP	T	T	G			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr22:30064437T>G	ENST00000338641.4	+	10	1440		c.e10+2		NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000347330.5_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGAAAGCAGGTGAGCACAACC	0.522			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																												.		.	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.	.	.	4	Unknown(4)	large_intestine(1)|stomach(1)|soft_tissue(1)|central_nervous_system(1)	c.999+2T>G						.						109	95	99					22																	30064437		2203	4300	6503	SO:0001630	splice_region_variant	4771	exon10	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	AGCAGGTGAGCAC	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.999+2T>G	22.37:g.30064437T>G		41	0		25	6	NM_016418	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476772	0.84640	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.81	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4643	0.55749	0.0:0.0:0.14:0.86	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28394437	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.060000	0.71141	0.995000	0.38917	0.533000	0.62120	.	.		0.522	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	G	30064437	T	G	30064437	5	3	25	1	0	0	0	0	0	0	1	0	10396	1710	59	4	1039	4	NF2	22	30064437	Splice_Site	SNP	T	TCGA-W6-AA0S-01A-11D-A417-09		30064437	21240129	119	4199											
HMGXB4	10042	bcgsc.ca	37	22	35683427	35683427	+	Missense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr22:35683427G>T	ENST00000216106.5	+	8	1578	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C	HMGXB4_ENST00000444518.2_Missense_Mutation_p.G375C	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	484					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTCAGAAGGTTCCATGAA	0.438																																					p.G484C													.	HMGXB4	52	0			c.G1450T						.						122	104	110					22																	35683427		2203	4300	6503	SO:0001583	missense	10042	exon8			TCAGAAGGTTCCA	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1450G>T	22.37:g.35683427G>T	ENSP00000216106:p.Gly484Cys	25	0		18	3	NM_001003681	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300608	0.60195	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.20738	2.05;2.06	5.41	4.4	0.53042	.	0.472911	0.25114	N	0.033029	T	0.33352	0.0860	L	0.40543	1.245	0.37907	D	0.931246	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	10	0.72032	D	0.01	-5.6943	9.1645	0.37043	0.0729:0.0:0.7819:0.1452	.	484	Q9UGU5	HMGX4_HUMAN	C	375;484	ENSP00000398302:G375C;ENSP00000216106:G484C	ENSP00000216106:G484C	G	+	1	0	HMGXB4	34013427	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	2.490000	0.45294	1.511000	0.48818	0.655000	0.94253	GGT	.		0.438	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		T	35683427	G	T	35683427	3	4	25	1	0	0	0	0	1	0	0	0	7266	1000	35	3	1476	3	HMGXB4	22	35683427	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	5618990	35683427	15621139	120	4200											
PPARA	5465	hgsc.bcm.edu	37	22	46594338	46594338	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chr22:46594338G>T	ENST00000396000.2	+	3	323	c.58G>T	c.(58-60)Gag>Tag	p.E20*	PPARA_ENST00000402126.1_Nonsense_Mutation_p.E20*|PPARA_ENST00000434345.2_Nonsense_Mutation_p.E20*|PPARA_ENST00000407236.1_Nonsense_Mutation_p.E20*|PPARA_ENST00000262735.5_Nonsense_Mutation_p.E20*			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	20					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)	p.E20Q(1)		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)	CGGCGATCTAGAGAGCCCGTT	0.562																																					p.E20X		.											PPARA,mouth,carcinoma,0,1	PPARA	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G58T						.						100	109	106					22																	46594338		2203	4300	6503	SO:0001587	stop_gained	5465	exon3			GATCTAGAGAGCC	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.58G>T	22.37:g.46594338G>T	ENSP00000379322:p.Glu20*	46	0		40	2	NM_001001928	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Nonsense_Mutation	SNP	ENST00000396000.2	37	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332774	0.81801	.	.	ENSG00000186951	ENST00000415785;ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	.	.	.	5.7	5.7	0.88788	.	0.407518	0.24841	N	0.035170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.9911	0.86354	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000262735:E20X	E	+	1	0	PPARA	44973002	1.000000	0.71417	0.923000	0.36655	0.020000	0.10135	4.700000	0.61803	2.687000	0.91594	0.655000	0.94253	GAG	.		0.562	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		T	46594338	G	T	46594338	4	4	25	1	0	0	0	0	0	1	0	0	12336	943	33	3	60	3	PPARA	22	46594338	Nonsense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	10910911	46594338	4710228	121	4201											
ZNF157	7712	broad.mit.edu	37	X	47272699	47272699	+	Silent	SNP	A	A	G			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chrX:47272699A>G	ENST00000377073.3	+	4	1313	c.1227A>G	c.(1225-1227)tcA>tcG	p.S409S		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	409					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						GGATGCATTCAGGAGAGAAAC	0.413																																					p.S409S													.	ZNF157	46	0			c.A1227G						.						66	60	62					X																	47272699		2203	4300	6503	SO:0001819	synonymous_variant	7712	exon4			GCATTCAGGAGAG	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.1227A>G	X.37:g.47272699A>G		32	0		58	3	NM_003446	Q96LE9	Silent	SNP	ENST00000377073.3	37	CCDS14278.1																																																																																			.		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		G	47272699	A	G	47272699	2	3	25	1	0	0	0	0	0	0	0	1	17785	175	7	4		4	ZNF157	23	47272699	Silent	SNP	A	TCGA-W6-AA0S-01A-11D-A417-09		47272699	107997861	122	4202											
CLCN5	1184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	49851058	49851058	+	Missense_Mutation	SNP	G	G	A			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chrX:49851058G>A	ENST00000307367.2	+	8	1169	c.878G>A	c.(877-879)cGc>cAc	p.R293H	CLCN5_ENST00000376088.3_Missense_Mutation_p.R363H|CLCN5_ENST00000376091.3_Missense_Mutation_p.R363H|CLCN5_ENST00000376108.3_Missense_Mutation_p.R293H			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	293					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)					TTCACTCTACGCTCCATCAAT	0.473																																					p.R363H		.											.	.	.	0			c.G1088A						.						101	79	87					X																	49851058		2203	4300	6503	SO:0001583	missense	1184	exon11			CTCTACGCTCCAT	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.878G>A	X.37:g.49851058G>A	ENSP00000304257:p.Arg293His	30	0		63	28	NM_001127898	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855876	0.91355	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.83	5.83	0.93111	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97222	0.9092	M	0.79926	2.475	0.80722	D	1	D;D	0.76494	0.958;0.999	P;D	0.80764	0.531;0.994	D	0.97028	0.9748	10	0.46703	T	0.11	-9.8095	17.7786	0.88517	0.0:0.0:1.0:0.0	.	293;363	P51795;P51795-2	CLCN5_HUMAN;.	H	363;195;363;293;293	ENSP00000365256:R363H;ENSP00000365259:R363H;ENSP00000365276:R293H;ENSP00000304257:R293H	ENSP00000304257:R293H	R	+	2	0	CLCN5	49737798	1.000000	0.71417	0.837000	0.33122	0.954000	0.61252	9.705000	0.98719	2.472000	0.83506	0.529000	0.55759	CGC	.		0.473	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			A	49851058	G	A	49851058	3	1	25	1	0	0	0	0	1	0	0	0	3473	1087	38	1	1122	1	CLCN5	23	49851058	Missense_Mutation	SNP	G	TCGA-W6-AA0S-01A-11D-A417-09	2578359	49851058	105419502	123	4203											
CCNB3	85417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	50085219	50085219	+	Missense_Mutation	SNP	C	C	T			TCGA-W6-AA0S-01A-11D-A417-09	TCGA-W6-AA0S-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	67fd4351-eff3-4ce8-87c8-d33cf1120c4b	3ed583ee-0f5b-475f-8401-f7e7d1679df3	g.chrX:50085219C>T	ENST00000376042.1	+	9	3833	c.3535C>T	c.(3535-3537)Cat>Tat	p.H1179Y	CCNB3_ENST00000276014.7_Missense_Mutation_p.H1179Y|CCNB3_ENST00000376038.1_Missense_Mutation_p.H75Y|CCNB3_ENST00000348603.2_Missense_Mutation_p.H75Y			Q8WWL7	CCNB3_HUMAN	cyclin B3	1179					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGAGATGACCCATGAGACCCT	0.488																																					p.H1179Y		.											.	.	.	0			c.C3535T						.						220	178	192					X																	50085219		2203	4300	6503	SO:0001583	missense	85417	exon8			ATGACCCATGAGA	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3535C>T	X.37:g.50085219C>T	ENSP00000365210:p.His1179Tyr	37	0		49	15	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426158	0.62733	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.11	5.11	0.69529	Cyclin, N-terminal (1);Cyclin-like (3);	0.109289	0.64402	D	0.000009	T	0.39462	0.1079	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.994;0.997;0.998	T	0.41052	-0.9530	9	.	.	.	.	16.5859	0.84727	0.0:1.0:0.0:0.0	.	1179;75;1179	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	Y	1179;75;75;1179	ENSP00000365210:H1179Y;ENSP00000365206:H75Y;ENSP00000338682:H75Y;ENSP00000276014:H1179Y	.	H	+	1	0	CCNB3	50101959	1.000000	0.71417	0.434000	0.26772	0.500000	0.33767	4.944000	0.63561	2.261000	0.74972	0.436000	0.28706	CAT	.		0.488	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			T	50085219	C	T	50085219	3	4	25	1	0	0	0	0	1	0	0	0	2921	594	21	3	3561	3	CCNB3	23	50085219	Missense_Mutation	SNP	C	TCGA-W6-AA0S-01A-11D-A417-09	234161	50085219	105185341	124	4204											
CHD5	26038	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	6194805	6194805	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:6194805G>T	ENST00000262450.3	-	19	3084	c.2985C>A	c.(2983-2985)caC>caA	p.H995Q	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)		AGAGGTAGGGGTGGTTGCAGC	0.577																																					p.H995Q		.											.	.	.	0			c.C2985A						.						234	241	238					1																	6194805		2203	4300	6503	SO:0001583	missense	26038	exon19			GTAGGGGTGGTTG	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.2985C>A	1.37:g.6194805G>T	ENSP00000262450:p.His995Gln	72	0		40	5	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379097	0.61735	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.79749	-1.3	4.48	1.44	0.22558	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91663	0.7365	H	0.98802	4.335	0.80722	D	1	D	0.63880	0.993	P	0.60345	0.873	D	0.91411	0.5151	10	0.87932	D	0	-30.8665	9.5895	0.39537	0.2381:0.0:0.7619:0.0	.	995	Q8TDI0	CHD5_HUMAN	Q	995;511;403;403	ENSP00000262450:H995Q	ENSP00000262450:H995Q	H	-	3	2	CHD5	6117392	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.077000	0.30741	0.425000	0.26087	0.561000	0.74099	CAC	.		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6194805	G	T	6194805	3	4	26	1	0	0	0	0	1	0	0	0	3335	1252	44	3	2971	3	CHD5	1	6194805	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		6194805	243055816	1	4205											
CELA2B	51032	hgsc.bcm.edu	37	1	15802636	15802636	+	Silent	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:15802636C>T	ENST00000375910.3	+	1	41	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	6						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L6L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TAGGACCCTGCTGCTGTCCAC	0.547																																					p.L6L		.											CELA2B,NS,carcinoma,0,1	CELA2B	0	1	Substitution - coding silent(1)	endometrium(1)	c.C16T						.						126	106	113					1																	15802636		2203	4300	6503	SO:0001819	synonymous_variant	51032	exon1			ACCCTGCTGCTGT		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.16C>T	1.37:g.15802636C>T		69	0		39	2	NM_015849	Q14D16|Q6ISM5|Q96QV5	Silent	SNP	ENST00000375910.3	37	CCDS30605.1																																																																																			.		0.547	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		T	15802636	C	T	15802636	2	4	26	1	0	0	0	0	0	0	0	1	3219	796	28	3		3	CELA2B	1	15802636	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	9607831	15802636	233447985	2	4206											
ATP13A2	23400	broad.mit.edu	37	1	17316709	17316709	+	Silent	SNP	G	G	A	rs148374514		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:17316709G>A	ENST00000326735.8	-	21	2358	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	ATP13A2_ENST00000452699.1_Silent_p.I770I|ATP13A2_ENST00000341676.5_Silent_p.I770I|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	775					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)		TGGCGTGGACGATGATCAGAT	0.652																																					p.I775I													.	ATP13A2	85	0			c.C2325T						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	45	49	48		2310,2310,2325	-1	0	1	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	770/1176,770/1159,775/1181	17316709	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23400	exon21			GTGGACGATGATC	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.2325C>T	1.37:g.17316709G>A		60	0		34	3	NM_022089	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																			G|1.000;A|0.000		0.652	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		A	17316709	G	A	17316709	2	1	26	1	0	0	0	0	0	0	0	1	1125	1048	37	1		1	ATP13A2	1	17316709	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	1514073	17316709	231933912	3	4207											
MYOM3	127294	hgsc.bcm.edu	37	1	24384096	24384096	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:24384096C>T	ENST00000374434.3	-	37	4234	c.4072G>A	c.(4072-4074)Gtc>Atc	p.V1358I	MYOM3_ENST00000338909.5_Missense_Mutation_p.V251I|MYOM3_ENST00000330966.7_Missense_Mutation_p.V1361I|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1358	Ig-like C2-type 4.					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)		TCTCCTGAGACGATGCAAGTC	0.517																																					p.V1358I		.											MYOM3,NS,carcinoma,0,2	MYOM3	0	0			c.G4072A						.						69	70	70					1																	24384096		1965	4147	6112	SO:0001583	missense	127294	exon37			CTGAGACGATGCA	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.4072G>A	1.37:g.24384096C>T	ENSP00000363557:p.Val1358Ile	66	0		37	2	NM_152372	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693292	0.15039	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.72051	-0.62;-0.62;-0.62	4.71	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264128	0.37095	N	0.002244	T	0.45776	0.1359	N	0.11427	0.14	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.13098	-1.0522	10	0.13853	T	0.58	.	8.8073	0.34945	0.0:0.2275:0.0:0.7725	.	1358;251	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	I	251;1358;1361;252	ENSP00000342689:V251I;ENSP00000363557:V1358I;ENSP00000332670:V1361I	ENSP00000332670:V1361I	V	-	1	0	MYOM3	24256683	0.947000	0.32204	1.000000	0.80357	0.614000	0.37383	0.100000	0.15231	0.324000	0.23333	-0.238000	0.12139	GTC	.		0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		T	24384096	C	T	24384096	3	4	26	1	0	0	0	0	1	0	0	0	10131	536	19	1	245	1	MYOM3	1	24384096	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	7067387	24384096	224866525	4	4208											
ARID1A	8289	hgsc.bcm.edu	37	1	27100375	27100375	+	Missense_Mutation	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:27100375C>A	ENST00000324856.7	+	17	4458	c.4087C>A	c.(4087-4089)Caa>Aaa	p.Q1363K	ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1363K|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q980K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1363	Gln-rich.				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)		TACAATGTATCAACAGCAACA	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.Q1363K		.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	ARID1A,bladder,carcinoma,0,1	ARID1A	0	0			c.C4087A						.						130	135	134					1																	27100375		2203	4300	6503	SO:0001583	missense	8289	exon17			ATGTATCAACAGC	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.4087C>A	1.37:g.27100375C>A	ENSP00000320485:p.Gln1363Lys	39	0		29	2	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.366560|2.366560	0.41902|0.41902	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	T;T;T|.	0.02280|.	4.55;4.36;4.36|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60805|.	0.2297|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.36874|.	0.572;0.189;0.287;0.189|.	B;B;B;B|.	0.33960|.	0.173;0.051;0.167;0.081|.	T|.	0.53858|.	-0.8379|.	10|.	0.32370|.	T|.	0.25|.	.|.	19.7727|19.7727	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	980;1363;1363;1016|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	K|X	1363;1363;980|259	ENSP00000320485:Q1363K;ENSP00000387636:Q1363K;ENSP00000363267:Q980K|.	ENSP00000320485:Q1363K|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26972962|26972962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	4.561000|4.561000	0.60809|0.60809	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	CAA|TCA	.		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27100375	C	A	27100375	3	1	26	1	0	0	0	0	1	0	0	0	913	827	29	3	4153	3	ARID1A	1	27100375	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	2716279	27100375	222150246	5	4209											
ARID1A	8289	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	27101387	27101394	+	Frame_Shift_Del	DEL	CCCTCTGC	CCCTCTGC	-			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	CCCTCTGC	CCCTCTGC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:27101387_27101394delCCCTCTGC	ENST00000324856.7	+	18	5040_5047	c.4669_4676delCCCTCTGC	c.(4669-4677)ccctctgccfs	p.PSA1557fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PSA1174fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1557					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)		CCCATATGGTCCCTCTGCCCCTGTGCCC	0.606			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.1556_1559del		.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	.	0			c.4668_4675del						.																																			SO:0001589	frameshift_variant	8289	exon18			TATGGTCCCTCTG	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.4669_4676delCCCTCTGC	1.37:g.27101387_27101394delCCCTCTGC	ENSP00000320485:p.Pro1557fs	79	0		67	12	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																			.		0.606	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27101394	CCCTCTGC	-	27101387	7	5	26	1	0	1	0	1	0	0	0	0	913	855	30	0	4739	0	ARID1A	1	27101387	Frame_Shift_Del	DEL	CCCTCTGC	TCGA-WD-A7RX-01A-12D-A417-09	1012	27101387	222149234	6	4210											
STK40	83931	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	36819995	36819995	+	Missense_Mutation	SNP	A	A	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:36819995A>C	ENST00000373129.3	-	7	999	c.593T>G	c.(592-594)cTg>cGg	p.L198R	STK40_ENST00000373132.3_Missense_Mutation_p.L198R|STK40_ENST00000373130.3_Missense_Mutation_p.L203R|STK40_ENST00000482458.1_5'Flank|STK40_ENST00000359297.2_Missense_Mutation_p.L198R	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCCCAGCTTCAGGTCTCTGTG	0.517																																					p.L198R													.	STK40	53	0			c.T593G						.						214	196	202					1																	36819995		2203	4300	6503	SO:0001583	missense	83931	exon7			AGCTTCAGGTCTC	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.593T>G	1.37:g.36819995A>C	ENSP00000362221:p.Leu198Arg	75	1		63	16	NM_032017	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	CCDS407.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759040	0.89843	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	D;T;T;D	0.82619	-1.63;1.1;1.1;-1.63	5.36	5.36	0.76844	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	0.94647	0.8274	H	0.98646	4.29	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	0.96566	0.9419	10	0.87932	D	0	-20.0022	14.5606	0.68133	1.0:0.0:0.0:0.0	.	198;203;198	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	R	198;198;203;198	ENSP00000362221:L198R;ENSP00000352245:L198R;ENSP00000362222:L203R;ENSP00000362224:L198R	ENSP00000352245:L198R	L	-	2	0	STK40	36592582	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.915000	0.92740	2.037000	0.60232	0.533000	0.62120	CTG	.		0.517	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		C	36819995	A	C	36819995	3	2	26	1	0	0	0	0	1	0	0	0	15354	188	7	4	738	4	STK40	1	36819995	Missense_Mutation	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	9718608	36819995	212430626	7	4211											
NSUN4	387338	hgsc.bcm.edu	37	1	46810541	46810541	+	Silent	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:46810541G>A	ENST00000474844.1	+	2	812	c.162G>A	c.(160-162)gtG>gtA	p.V54V	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Silent_p.V5V|NSUN4_ENST00000536062.1_Silent_p.V5V	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	54					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)					CTTACAGTGTGCAGTTTGGAG	0.473																																					p.V54V		.											.	.	.	0			c.G162A						.						185	178	180					1																	46810541		2203	4300	6503	SO:0001819	synonymous_variant	387338	exon2			CAGTGTGCAGTTT	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.162G>A	1.37:g.46810541G>A		61	0		67	4	NM_199044	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Silent	SNP	ENST00000474844.1	37	CCDS534.1																																																																																			.		0.473	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		A	46810541	G	A	46810541	2	1	26	1	0	0	0	0	0	0	0	1	10719	1306	46	3		3	NSUN4	1	46810541	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	9990546	46810541	202440080	8	4212											
AMY2A	279	hgsc.bcm.edu;broad.mit.edu	37	1	104160125	104160125	+	Silent	SNP	A	A	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:104160125A>T	ENST00000414303.2	+	1	127	c.63A>T	c.(61-63)acA>acT	p.T21T		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	21					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	CCCCAAATACACAACAAGGAC	0.428																																					p.T21T		.											.	.	.	0			c.A63T						.						113	94	100					1																	104160125		2200	4258	6458	SO:0001819	synonymous_variant	279	exon1			AAATACACAACAA	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.63A>T	1.37:g.104160125A>T		325	0		252	12	NM_000699	B9EJG1|Q9UBH3	Silent	SNP	ENST00000414303.2	37	CCDS783.1	.	.	.	.	.	.	.	.	.	.	a	0.134	-1.109688	0.01813	.	.	ENSG00000243480	ENST00000423678	.	.	.	3.22	-2.49	0.06403	.	0.203291	0.49916	D	0.000121	T	0.07593	0.0191	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35624	-0.9781	6	0.22109	T	0.4	.	4.8441	0.13505	0.1602:0.5151:0.0:0.3247	.	.	.	.	S	20	.	ENSP00000390832:T20S	T	+	1	0	AMY2A	103961648	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.357000	0.02607	-0.369000	0.08028	-0.714000	0.03626	ACA	.		0.428	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		T	104160125	A	T	104160125	2	4	26	1	0	0	0	0	0	0	0	1	594	146	6	5		5	AMY2A	1	104160125	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	57349584	104160125	145090496	9	4213											
KIAA1324	57535	hgsc.bcm.edu	37	1	109714602	109714602	+	Silent	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:109714602C>T	ENST00000369939.3	+	4	765	c.582C>T	c.(580-582)taC>taT	p.Y194Y	KIAA1324_ENST00000529753.1_Silent_p.Y194Y	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	194					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)		TCGAATACTACTATCCAGACT	0.537																																					p.Y194Y		.											.	.	.	0			c.C582T						.						155	133	140					1																	109714602		2203	4300	6503	SO:0001819	synonymous_variant	57535	exon4			ATACTACTATCCA	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.582C>T	1.37:g.109714602C>T		63	0		58	4	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	CCDS794.1																																																																																			.		0.537	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109714602	C	T	109714602	2	4	26	1	0	0	0	0	0	0	0	1	8250	576	20	3		3	KIAA1324	1	109714602	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	5554477	109714602	139536019	10	4214											
TCHH	7062	hgsc.bcm.edu	37	1	152084531	152084531	+	Missense_Mutation	SNP	G	G	C	rs530429479	byFrequency	TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:152084531G>C	ENST00000368804.1	-	2	1161	c.1162C>G	c.(1162-1164)Cag>Gag	p.Q388E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	388	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				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)			cgcctcagctgctgctcgcgc	0.721													-|||	107	0.0213658	0.003	0.1023	5008	,	,		16197	0.0298		0.001	False		,,,				2504	0.001				p.Q388E		.											.	.	.	0			c.C1162G						.						2	4	3					1																	152084531		541	1723	2264	SO:0001583	missense	7062	exon3			TCAGCTGCTGCTC	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.1162C>G	1.37:g.152084531G>C	ENSP00000357794:p.Gln388Glu	30	0		32	6	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	5.805	0.332821	0.11013	.	.	ENSG00000159450	ENST00000368804	T	0.04275	3.66	3.35	-0.432	0.12291	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45571	-0.9252	9	0.02654	T	1	.	16.3773	0.83410	0.0:0.2058:0.7942:0.0	.	388	Q07283	TRHY_HUMAN	E	388	ENSP00000357794:Q388E	ENSP00000357794:Q388E	Q	-	1	0	TCHH	150351155	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.503000	0.00965	-0.501000	0.06605	-1.947000	0.00488	CAG	.		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152084531	G	C	152084531	3	2	26	1	0	0	0	0	1	0	0	0	15747	1328	46	5	4673	5	TCHH	1	152084531	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	42369929	152084531	97166090	11	4215											
YY1AP1	55249	hgsc.bcm.edu	37	1	155629657	155629657	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:155629657G>T	ENST00000295566.4	-	11	2205	c.2182C>A	c.(2182-2184)Cca>Aca	p.P728T	YY1AP1_ENST00000368330.2_Missense_Mutation_p.P682T|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P671T|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P820T|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P682T|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P651T|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P671T|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P651T|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P682T|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P800T|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P662T|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P528T	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	728					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)					TCGACTGGTGGAGGCCCTGGG	0.522																																					p.P820T		.											.	.	.	0			c.C2458A						.						134	123	127					1																	155629657		2203	4300	6503	SO:0001583	missense	55249	exon10			CTGGTGGAGGCCC	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.2182C>A	1.37:g.155629657G>T	ENSP00000295566:p.Pro728Thr	63	0		72	4	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	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.460595	0.01062	.	.	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;1.96;1.96;1.96;1.92;1.94;1.96;1.96;1.96;1.9;1.96	2.57	1.6	0.23607	.	1.381490	0.04449	N	0.372297	T	0.22551	0.0544	L	0.54323	1.7	0.09310	N	1	B;P;D;B;D	0.57899	0.003;0.688;0.981;0.012;0.961	B;B;D;B;P	0.67900	0.006;0.368;0.954;0.028;0.599	T	0.06481	-1.0824	10	0.46703	T	0.11	.	1.1528	0.01790	0.1507:0.2174:0.4112:0.2206	.	820;662;728;682;800	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	T	671;682;651;682;671;800;728;682;651;662;820;528	ENSP00000352134:P671T;ENSP00000347686:P682T;ENSP00000311138:P651T;ENSP00000316079:P682T;ENSP00000355298:P671T;ENSP00000357324:P800T;ENSP00000295566:P728T;ENSP00000357314:P682T;ENSP00000385791:P651T;ENSP00000385390:P662T;ENSP00000357323:P820T;ENSP00000437926:P528T	ENSP00000295566:P728T	P	-	1	0	YY1AP1	153896281	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.570000	0.05895	0.366000	0.24427	0.313000	0.20887	CCA	.		0.522	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		T	155629657	G	T	155629657	3	4	26	1	0	0	0	0	1	0	0	0	17557	1174	41	3	212	3	YY1AP1	1	155629657	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	3545126	155629657	93620964	12	4216											
SLAMF8	56833	hgsc.bcm.edu	37	1	159799757	159799757	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:159799757G>T	ENST00000289707.5	+	2	291	c.142G>T	c.(142-144)Gct>Tct	p.A48S	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	48					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					AGTCCGTGAGGCTATCTGGCG	0.612																																					p.A48S		.											SLAMF8,NS,carcinoma,0,1	SLAMF8	0	0			c.G142T						.						127	135	132					1																	159799757		2203	4300	6503	SO:0001583	missense	56833	exon2			CGTGAGGCTATCT	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.142G>T	1.37:g.159799757G>T	ENSP00000289707:p.Ala48Ser	39	0		38	2	NM_020125	Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284698	0.59867	.	.	ENSG00000158714	ENST00000289707	T	0.22134	1.97	4.44	4.44	0.53790	.	0.211384	0.41194	D	0.000925	T	0.12178	0.0296	L	0.32530	0.975	0.80722	D	1	P	0.50819	0.939	P	0.46419	0.516	T	0.01781	-1.1275	10	0.52906	T	0.07	-12.461	12.4262	0.55548	0.0:0.0:1.0:0.0	.	48	Q9P0V8	SLAF8_HUMAN	S	48	ENSP00000289707:A48S	ENSP00000289707:A48S	A	+	1	0	SLAMF8	158066381	0.999000	0.42202	1.000000	0.80357	0.587000	0.36485	4.590000	0.61013	2.296000	0.77279	0.313000	0.20887	GCT	.		0.612	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		T	159799757	G	T	159799757	3	4	26	1	0	0	0	0	1	0	0	0	14415	1203	42	3	148	3	SLAMF8	1	159799757	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	4170100	159799757	89450864	13	4217											
FAM5C	339479	broad.mit.edu	37	1	190203603	190203603	+	Missense_Mutation	SNP	G	G	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:190203603G>C	ENST00000367462.3	-	5	854	c.623C>G	c.(622-624)aCa>aGa	p.T208R	BRINP3_ENST00000534846.1_Missense_Mutation_p.T106R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	208	MACPF.				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)											CCGTGTTTCTGTTACCTGGCA	0.383																																					p.T208R													.	FAM5C	343	0			c.C623G						.						112	96	101					1																	190203603		2203	4300	6503	SO:0001583	missense	0	exon5			GTTTCTGTTACCT	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.623C>G	1.37:g.190203603G>C	ENSP00000356432:p.Thr208Arg	94	0		94	3	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457740	0.63401	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20332	2.3;2.08	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.40608	-0.9554	10	0.72032	D	0.01	.	17.6929	0.88273	0.0:0.0:1.0:0.0	.	106;208	B7Z260;Q76B58	.;FAM5C_HUMAN	R	208;106	ENSP00000356432:T208R;ENSP00000438022:T106R	ENSP00000356432:T208R	T	-	2	0	FAM5C	188470226	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.724000	0.98775	2.775000	0.95449	0.650000	0.86243	ACA	.		0.383	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		C	190203603	G	C	190203603	3	2	26	1	0	0	0	0	1	0	0	0	5616	1377	48	5	1693	5	FAM5C	1	190203603	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	30403846	190203603	59047018	14	4218											
DTL	51514	hgsc.bcm.edu	37	1	212274368	212274368	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:212274368G>T	ENST00000366991.4	+	14	2350	c.2036G>T	c.(2035-2037)aGt>aTt	p.S679I	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.S637I|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	679					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)		TCTCCACGAAGTCCGTCATCC	0.483																																					p.S679I		.											DTL,NS,carcinoma,0,1	DTL	0	0			c.G2036T						.						44	44	44					1																	212274368		2203	4300	6503	SO:0001583	missense	51514	exon14			CACGAAGTCCGTC	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.2036G>T	1.37:g.212274368G>T	ENSP00000355958:p.Ser679Ile	83	0		68	3	NM_016448	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088873	0.55968	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.77750	-1.05;-1.12	5.71	4.79	0.61399	.	0.206627	0.56097	D	0.000023	T	0.70954	0.3283	L	0.27053	0.805	0.09310	N	0.999999	D;D;D	0.56521	0.976;0.96;0.96	P;B;B	0.49887	0.625;0.443;0.421	T	0.65199	-0.6226	10	0.87932	D	0	-10.3273	8.6992	0.34316	0.078:0.3138:0.6082:0.0	.	637;679;637	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	I	679;637;358	ENSP00000355958:S679I;ENSP00000443870:S637I	ENSP00000355958:S679I	S	+	2	0	DTL	210340991	0.900000	0.30661	0.987000	0.45799	0.985000	0.73830	2.681000	0.46926	1.404000	0.46819	0.655000	0.94253	AGT	.		0.483	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		T	212274368	G	T	212274368	3	4	26	1	0	0	0	0	1	0	0	0	4801	1029	36	3	2090	3	DTL	1	212274368	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	22070765	212274368	36976253	15	4219											
TRIM17	51127	bcgsc.ca	37	1	228602548	228602548	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:228602548G>A	ENST00000366697.2	-	1	1182	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	TRIM17_ENST00000456946.2_Missense_Mutation_p.P76S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P76S|TRIM17_ENST00000366698.2_Missense_Mutation_p.P76S			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	76					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)				AGCCGGTTGGGCAGCAGGTTC	0.642																																					p.P76S													.	TRIM17	66	0			c.C226T						.						50	49	49					1																	228602548		2203	4300	6503	SO:0001583	missense	51127	exon2			GGTTGGGCAGCAG	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.226C>T	1.37:g.228602548G>A	ENSP00000355658:p.Pro76Ser	93	0		89	5	NM_001024940	B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082146	0.55861	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	4.82	3.82	0.43975	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.41823	D	0.000817	T	0.34279	0.0892	L	0.41632	1.29	0.32483	N	0.541278	D;D	0.89917	1.0;0.979	D;P	0.97110	1.0;0.65	T	0.24119	-1.0169	10	0.45353	T	0.12	.	11.9667	0.53040	0.0:0.0:0.826:0.174	.	76;76	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	S	76;76;76;76;49;76	ENSP00000355658:P76S;ENSP00000355659:P76S;ENSP00000295033:P76S;ENSP00000403312:P76S;ENSP00000430468:P49S;ENSP00000347794:P76S	ENSP00000295033:P76S	P	-	1	0	TRIM17	226669171	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	3.141000	0.50593	2.607000	0.88179	0.655000	0.94253	CCC	.		0.642	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		A	228602548	G	A	228602548	3	1	26	1	0	0	0	0	1	0	0	0	16541	1203	42	3	1380	3	TRIM17	1	228602548	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	16328180	228602548	20648073	16	4220											
FMN2	56776	bcgsc.ca	37	1	240371688	240371688	+	Silent	SNP	A	A	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr1:240371688A>T	ENST00000319653.9	+	5	3806	c.3576A>T	c.(3574-3576)ggA>ggT	p.G1192G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1192	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)			CTCTACCTGGAGTGGGAATAC	0.672																																					p.G1192G													FMN2,NS,carcinoma,+1,1	FMN2	451	0			c.A3576T						.						17	18	18					1																	240371688		2199	4297	6496	SO:0001819	synonymous_variant	56776	exon5			ACCTGGAGTGGGA	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.3576A>T	1.37:g.240371688A>T		151	6		148	10	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371688	A	T	240371688	2	4	26	1	0	0	0	0	0	0	0	1	5972	291	11	5		5	FMN2	1	240371688	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	11769140	240371688	8878933	17	4221											
MYT1L	23040	hgsc.bcm.edu	37	2	1890332	1890332	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr2:1890332G>T	ENST00000399161.2	-	18	3437	c.2690C>A	c.(2689-2691)gCc>gAc	p.A897D	MYT1L_ENST00000428368.2_Missense_Mutation_p.A895D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	897					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)		GGAGCTGGTGGCCAGCATACT	0.458																																					p.A895D		.											.	.	.	0			c.C2684A						.						55	56	55					2																	1890332		1863	4106	5969	SO:0001583	missense	23040	exon18			CTGGTGGCCAGCA	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.2690C>A	2.37:g.1890332G>T	ENSP00000382114:p.Ala897Asp	80	0		57	4	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.807151	0.90623	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47528	0.84;0.84	5.66	5.66	0.87406	.	0.046039	0.85682	D	0.000000	T	0.65238	0.2672	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70227	0.964;0.968	T	0.64816	-0.6318	10	0.59425	D	0.04	-35.0603	19.7617	0.96321	0.0:0.0:1.0:0.0	.	897;895	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	D	897;843;895	ENSP00000382114:A897D;ENSP00000396103:A895D	ENSP00000295067:A843D	A	-	2	0	MYT1L	1869339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.671000	0.90904	0.655000	0.94253	GCC	.		0.458	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1890332	G	T	1890332	3	4	26	1	0	0	0	0	1	0	0	0	10145	1203	42	3	902	3	MYT1L	2	1890332	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		1890332	241309041	18	4222											
MAP4K4	9448	hgsc.bcm.edu;bcgsc.ca	37	2	102480371	102480371	+	Intron	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr2:102480371C>T	ENST00000347699.4	+	17	1866				MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000324219.4_Missense_Mutation_p.A652V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.A547V|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000350198.4_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4						intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCAAATTTGCACACCACCAT	0.527																																					p.A567V		.											.	.	.	0			c.C1700T						.						304	296	298					2																	102480371		2027	4177	6204	SO:0001627	intron_variant	9448	exon16			AATTTGCACACCA	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1867-1021C>T	2.37:g.102480371C>T		64	0		57	4	NM_001242560	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403053	0.62288	.	.	ENSG00000071054	ENST00000324219;ENST00000350878;ENST00000418101	T;T;T	0.50548	0.74;0.74;0.74	5.98	5.98	0.97165	.	0.133325	0.51477	D	0.000093	T	0.57548	0.2061	L	0.27053	0.805	0.58432	D	0.999992	D;D;P	0.69078	0.997;0.993;0.702	D;D;B	0.70716	0.97;0.956;0.234	T	0.49303	-0.8954	10	0.27082	T	0.32	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	547;567;652	B7Z388;B7Z3V5;G5E948	.;.;.	V	652;547;187	ENSP00000313644:A652V;ENSP00000343658:A547V;ENSP00000414766:A187V	ENSP00000313644:A652V	A	+	2	0	MAP4K4	101846803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.040000	0.76551	2.835000	0.97688	0.650000	0.86243	GCA	.		0.527	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		T	102480371	C	T	102480371	1	4	26	0	1	0	0	0	0	0	0	0	9300	710	25	3		3	MAP4K4	2	102480371	Intron	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	100590039	102480371	140719002	19	4223											
THSD7B	80731	hgsc.bcm.edu;bcgsc.ca	37	2	137988805	137988805	+	Splice_Site	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr2:137988805G>T	ENST00000409968.1	+	8	2093	c.1915G>T	c.(1915-1917)Ggt>Tgt	p.G639C	THSD7B_ENST00000413152.2_Splice_Site_p.G608C|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Splice_Site_p.G639C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	639	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		GGCTGGGGAAGGTGAGTAACA	0.423																																					.		.											.	.	.	0			.						.						31	31	31					2																	137988805		1879	4130	6009	SO:0001630	splice_region_variant	80731	p.G639C			GGGGAAGGTGAGT			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.1915+1G>T	2.37:g.137988805G>T		114	0		88	4	.		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.096605	0.94197	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.64085	-0.08;-0.08;-0.08	5.89	5.89	0.94794	.	0.147994	0.64402	D	0.000010	D	0.85999	0.5828	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88591	0.3143	10	0.66056	D	0.02	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	639;608	Q9C0I4;C9JKN6	THS7B_HUMAN;.	C	639;639;608	ENSP00000387145:G639C;ENSP00000272643:G639C;ENSP00000413841:G608C	ENSP00000272643:G639C	G	+	1	0	THSD7B	137705275	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.827000	0.99397	2.797000	0.96272	0.563000	0.77884	GGT	.		0.423	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	Missense_Mutation	T	137988805	G	T	137988805	5	4	26	1	0	0	0	0	0	0	1	0	15927	1014	35	3	1848	3	THSD7B	2	137988805	Splice_Site	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	35508434	137988805	105210568	20	4224											
SCN2A	6326	hgsc.bcm.edu	37	2	166231393	166231393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr2:166231393G>T	ENST00000375437.2	+	22	4461	c.4171G>T	c.(4171-4173)Gag>Tag	p.E1391*	SCN2A_ENST00000375427.2_Nonsense_Mutation_p.E1391*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.E1391*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.E1391*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1391					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)	AGCTCTCATTGAGAGCAATCA	0.378																																					p.E1391X		.											SCN2A_ENST00000375437,bladder,carcinoma,0,2	SCN2A_ENST00000375437	0	0			c.G4171T						.						85	82	83					2																	166231393		2203	4299	6502	SO:0001587	stop_gained	6326	exon21			CTCATTGAGAGCA	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.4171G>T	2.37:g.166231393G>T	ENSP00000364586:p.Glu1391*	76	0		50	2	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	40	8.052331	0.98629	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	4.58	4.58	0.56647	.	0.476335	0.17418	N	0.174950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	6.4646	0.21975	0.1603:0.1565:0.6832:0.0	.	.	.	.	X	1391	.	ENSP00000283256:E1391X	E	+	1	0	SCN2A	165939639	0.980000	0.34600	0.978000	0.43139	0.366000	0.29705	1.017000	0.29989	2.243000	0.73865	0.591000	0.81541	GAG	.		0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166231393	G	T	166231393	4	4	26	1	0	0	0	0	0	1	0	0	13961	1291	45	3	4349	3	SCN2A	2	166231393	Nonsense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	28242588	166231393	76967980	21	4225											
STK36	27148	hgsc.bcm.edu	37	2	219563551	219563551	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr2:219563551G>T	ENST00000295709.3	+	26	3563	c.3284G>T	c.(3283-3285)aGc>aTc	p.S1095I	STK36_ENST00000392105.3_Missense_Mutation_p.S1074I|STK36_ENST00000392106.2_Missense_Mutation_p.S1074I|STK36_ENST00000440309.1_Missense_Mutation_p.S1095I	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)		CTGTCTCCCAGCCACTTGTCC	0.587																																					p.S1095I		.											STK36,NS,carcinoma,0,1	STK36	0	0			c.G3284T						.						84	78	80					2																	219563551		2203	4300	6503	SO:0001583	missense	27148	exon26			CTCCCAGCCACTT	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.3284G>T	2.37:g.219563551G>T	ENSP00000295709:p.Ser1095Ile	45	0		38	2	NM_015690		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.01|10.01	1.233687|1.233687	0.22626|0.22626	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000431040|ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.|T;T;T;T	.|0.64085	.|0.7;0.7;-0.08;0.7	6.06|6.06	3.05|3.05	0.35203|0.35203	.|Armadillo-type fold (1);	.|0.123693	.|0.37219	.|N	.|0.002183	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.19112|0.19112	0.55|0.55	0.20403|0.20403	N|N	0.999902|0.999902	.|P;P;B	.|0.39216	.|0.664;0.573;0.437	.|B;B;B	.|0.36766	.|0.125;0.232;0.117	T|T	0.27226|0.27226	-1.0080|-1.0080	5|10	.|0.44086	.|T	.|0.13	-1.1486|-1.1486	7.7759|7.7759	0.29037|0.29037	0.1609:0.3511:0.488:0.0|0.1609:0.3511:0.488:0.0	.|.	.|1074;1074;1095	.|A8MU99;Q9NRP7-2;Q9NRP7	.|.;.;STK36_HUMAN	S|I	288|1095;1074;1074;1095	.|ENSP00000295709:S1095I;ENSP00000375955:S1074I;ENSP00000375954:S1074I;ENSP00000394095:S1095I	.|ENSP00000295709:S1095I	A|S	+|+	1|2	0|0	STK36|STK36	219271795|219271795	0.008000|0.008000	0.16893|0.16893	0.982000|0.982000	0.44146|0.44146	0.197000|0.197000	0.23852|0.23852	0.157000|0.157000	0.16402|0.16402	0.854000|0.854000	0.35336|0.35336	0.655000|0.655000	0.94253|0.94253	GCC|AGC	.		0.587	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			T	219563551	G	T	219563551	3	4	26	1	0	0	0	0	1	0	0	0	15349	971	34	3	3382	3	STK36	2	219563551	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	53332158	219563551	23635822	22	4226											
DAZL	1618	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	16633636	16633636	+	Missense_Mutation	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:16633636A>G	ENST00000399444.2	-	10	1048	c.755T>C	c.(754-756)aTa>aCa	p.I252T	DAZL_ENST00000250863.8_Missense_Mutation_p.I272T	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	252					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CACCGTTTGTATGCTTCGGTC	0.363																																					p.I272T		.											.	.	.	0			c.T815C						.						240	243	242					3																	16633636		2203	4300	6503	SO:0001583	missense	1618	exon10			GTTTGTATGCTTC	BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.755T>C	3.37:g.16633636A>G	ENSP00000382373:p.Ile252Thr	601	0		360	16	NM_001190811	O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	ENST00000399444.2	37	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807733	0.31961	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	T;T	0.26957	1.7;1.71	5.19	5.19	0.71726	.	0.519794	0.21498	N	0.073571	T	0.25005	0.0607	L	0.54323	1.7	0.34595	D	0.715913	B;B	0.24258	0.1;0.1	B;B	0.18263	0.012;0.021	T	0.25363	-1.0134	10	0.24483	T	0.36	-3.8534	13.2774	0.60194	1.0:0.0:0.0:0.0	.	252;272	Q92904;Q5HYB4	DAZL_HUMAN;.	T	272;252	ENSP00000250863:I272T;ENSP00000382373:I252T	ENSP00000250863:I272T	I	-	2	0	DAZL	16608640	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.615000	0.67702	1.956000	0.56807	0.459000	0.35465	ATA	.		0.363	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		G	16633636	A	G	16633636	3	3	26	1	0	0	0	0	1	0	0	0	4255	449	16	4	140	4	DAZL	3	16633636	Missense_Mutation	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09		16633636	181388794	23	4227											
PDCD6IP	10015	broad.mit.edu	37	3	33840300	33840300	+	Missense_Mutation	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:33840300A>G	ENST00000307296.3	+	1	457	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	RP11-10C24.1_ENST00000605513.1_lincRNA|RP11-10C24.3_ENST00000604982.1_lincRNA|PDCD6IP_ENST00000457054.2_Missense_Mutation_p.Q27R			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	27	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTCATCCAGCAGACTTACCCA	0.652																																					p.Q27R													.	PDCD6IP	62	0			c.A80G						.						17	15	16					3																	33840300		2200	4282	6482	SO:0001583	missense	10015	exon1			TCCAGCAGACTTA	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.80A>G	3.37:g.33840300A>G	ENSP00000307387:p.Gln27Arg	60	0		73	4	NM_013374	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282820	0.59867	.	.	ENSG00000170248	ENST00000307296;ENST00000457054;ENST00000413073	T;T;T	0.16457	2.34;2.34;2.34	5.55	5.55	0.83447	BRO1 domain (3);	0.371820	0.30940	N	0.008575	T	0.16342	0.0393	L	0.41824	1.3	0.37899	D	0.93097	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.16289	0.009;0.015;0.015	T	0.08186	-1.0734	10	0.22706	T	0.39	-9.9457	15.683	0.77388	1.0:0.0:0.0:0.0	.	27;27;27	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	R	27	ENSP00000307387:Q27R;ENSP00000411825:Q27R;ENSP00000406693:Q27R	ENSP00000307387:Q27R	Q	+	2	0	PDCD6IP	33815304	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.663000	0.46774	2.104000	0.64026	0.477000	0.44152	CAG	.		0.652	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			G	33840300	A	G	33840300	3	3	26	1	0	0	0	0	1	0	0	0	11663	188	7	4	82	4	PDCD6IP	3	33840300	Missense_Mutation	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	17206664	33840300	164182130	24	4228											
RAD54L2	23132	bcgsc.ca	37	3	51697126	51697126	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:51697126G>A	ENST00000409535.2	+	22	4219	c.4094G>A	c.(4093-4095)aGc>aAc	p.S1365N	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S1059N	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1365						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GTCACTGCCAGCAACCCCTCC	0.587																																					p.S1365N													.	RAD54L2	94	0			c.G4094A						.						125	116	119					3																	51697126		2203	4300	6503	SO:0001583	missense	23132	exon22			CTGCCAGCAACCC	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4094G>A	3.37:g.51697126G>A	ENSP00000386520:p.Ser1365Asn	34	0		15	3	NM_015106	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690057	0.48097	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.94650	-3.41;-3.48	5.41	5.41	0.78517	.	0.181563	0.49916	D	0.000127	D	0.89291	0.6673	N	0.24115	0.695	0.80722	D	1	P;P	0.43477	0.808;0.808	B;B	0.35607	0.206;0.206	D	0.90983	0.4829	10	0.66056	D	0.02	-16.3112	16.3572	0.83239	0.0:0.0:1.0:0.0	.	1365;954	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	N	1365;1059	ENSP00000386520:S1365N;ENSP00000296477:S1059N	ENSP00000296477:S1059N	S	+	2	0	RAD54L2	51672166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.225000	0.51246	2.532000	0.85374	0.655000	0.94253	AGC	.		0.587	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		A	51697126	G	A	51697126	3	1	26	1	0	0	0	0	1	0	0	0	13039	971	34	3	4176	3	RAD54L2	3	51697126	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	17856826	51697126	146325304	25	4229											
PROS1	5627	hgsc.bcm.edu	37	3	93605209	93605209	+	Silent	SNP	G	G	T	rs370129669		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:93605209G>T	ENST00000394236.3	-	11	1610	c.1294C>A	c.(1294-1296)Cgg>Agg	p.R432R	PROS1_ENST00000407433.1_Silent_p.R301R	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	432	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.R432W(1)|p.R432L(1)		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)	TCCACTTTCCGAGGGAATCCT	0.378																																					p.R432R		.											PROS1,bladder,carcinoma,0,1	PROS1	0	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)	c.C1294A						.						118	126	123					3																	93605209		2203	4300	6503	SO:0001819	synonymous_variant	5627	exon11			CTTTCCGAGGGAA		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.1294C>A	3.37:g.93605209G>T		119	0		73	3	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	CCDS2923.1																																																																																			.		0.378	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		T	93605209	G	T	93605209	2	4	26	1	0	0	0	0	0	0	0	1	12600	1057	37	2		2	PROS1	3	93605209	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	41908083	93605209	104417221	26	4230											
DZIP3	9666	hgsc.bcm.edu	37	3	108344792	108344792	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:108344792G>T	ENST00000361582.3	+	7	787	c.557G>T	c.(556-558)gGt>gTt	p.G186V	DZIP3_ENST00000463306.1_Missense_Mutation_p.G186V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	186					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTGGACGTGGTTTACTGCGA	0.353																																					p.G186V		.											.	.	.	0			c.G557T						.						126	127	126					3																	108344792		2203	4299	6502	SO:0001583	missense	9666	exon7			GACGTGGTTTACT	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.557G>T	3.37:g.108344792G>T	ENSP00000355028:p.Gly186Val	142	0		95	4	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096895	0.37048	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000486815;ENST00000479138;ENST00000463306	T;T	0.34667	1.35;1.35	4.95	4.95	0.65309	.	0.275088	0.27210	N	0.020401	T	0.29423	0.0733	N	0.19112	0.55	0.53005	D	0.999964	P	0.41313	0.745	B	0.42959	0.403	T	0.12785	-1.0534	10	0.87932	D	0	-2.2602	13.6011	0.62020	0.0:0.0:1.0:0.0	.	186	Q86Y13	DZIP3_HUMAN	V	186;186;102;186;186	ENSP00000355028:G186V;ENSP00000419981:G186V	ENSP00000355028:G186V	G	+	2	0	DZIP3	109827482	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.171000	0.58236	2.573000	0.86826	0.644000	0.83932	GGT	.		0.353	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		T	108344792	G	T	108344792	3	4	26	1	0	0	0	0	1	0	0	0	4879	1261	44	3	579	3	DZIP3	3	108344792	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	14739583	108344792	89677638	27	4231											
TIGIT	201633	broad.mit.edu;bcgsc.ca	37	3	114014670	114014670	+	Missense_Mutation	SNP	C	C	T	rs559114697		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:114014670C>T	ENST00000486257.1	+	3	597	c.340C>T	c.(340-342)Cct>Tct	p.P114S	TIGIT_ENST00000383671.3_Missense_Mutation_p.P114S|TIGIT_ENST00000481065.1_Missense_Mutation_p.P181S			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	114	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TCACACCTACCCTGATGGGAC	0.557																																					p.P114S													.	TIGIT	42	0			c.C340T						.						87	82	84					3																	114014670		2203	4300	6503	SO:0001583	missense	201633	exon2			ACCTACCCTGATG	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.340C>T	3.37:g.114014670C>T	ENSP00000419085:p.Pro114Ser	25	0		11	3	NM_173799	Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679378	0.68042	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.71	4.71	0.59529	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000055	T	0.66761	0.2822	M	0.84683	2.71	0.38017	D	0.934722	D	0.89917	1.0	D	0.91635	0.999	T	0.74153	-0.3757	10	0.62326	D	0.03	-17.2055	13.3416	0.60549	0.0:1.0:0.0:0.0	.	114	Q495A1	TIGIT_HUMAN	S	93;181;114;114;93	ENSP00000418917:P93S;ENSP00000420552:P181S;ENSP00000419085:P114S;ENSP00000373167:P114S;ENSP00000419706:P93S	ENSP00000373167:P114S	P	+	1	0	TIGIT	115497360	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	3.576000	0.53878	2.628000	0.89032	0.561000	0.74099	CCT	.		0.557	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		T	114014670	C	T	114014670	3	4	26	1	0	0	0	0	1	0	0	0	15949	623	22	3	346	3	TIGIT	3	114014670	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	5669878	114014670	84007760	28	4232											
CP	1356	hgsc.bcm.edu;bcgsc.ca	37	3	148896305	148896305	+	Missense_Mutation	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:148896305C>A	ENST00000264613.6	-	16	3037	c.2775G>T	c.(2773-2775)gaG>gaT	p.E925D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	925	F5/8 type A 3.|Plastocyanin-like 6.				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)	AAGATTCATTCTCATCAAAAA	0.368																																					p.E925D		.											.	.	.	0			c.G2775T						.						110	102	104					3																	148896305		2203	4300	6503	SO:0001583	missense	1356	exon16			TTCATTCTCATCA	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.2775G>T	3.37:g.148896305C>A	ENSP00000264613:p.Glu925Asp	77	0		82	4	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842170	0.71488	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99869	-7.34;-7.34;-7.34	5.68	2.39	0.29439	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.95043	3.615	0.53005	D	0.999968	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.91635	0.998;0.998;0.992;0.999	D	0.97698	1.0183	10	0.62326	D	0.03	-31.5658	8.8835	0.35389	0.0:0.6234:0.0:0.3766	.	925;925;925;638	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	D	60;925;708	ENSP00000420367:E60D;ENSP00000264613:E925D;ENSP00000420545:E708D	ENSP00000264613:E925D	E	-	3	2	CP	150378995	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.602000	0.36783	0.715000	0.32103	0.650000	0.86243	GAG	.		0.368	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		A	148896305	C	A	148896305	3	1	26	1	0	0	0	0	1	0	0	0	3794	912	32	3	438	3	CP	3	148896305	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	34881635	148896305	49126125	29	4233											
TNIK	23043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	170928989	170928989	+	Missense_Mutation	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr3:170928989C>A	ENST00000436636.2	-	4	566	c.222G>T	c.(220-222)aaG>aaT	p.K74N	TNIK_ENST00000341852.6_Missense_Mutation_p.K74N|TNIK_ENST00000538048.1_Missense_Mutation_p.K74N|TNIK_ENST00000460047.1_Missense_Mutation_p.K74N|TNIK_ENST00000488470.1_Missense_Mutation_p.K74N|TNIK_ENST00000369326.5_Missense_Mutation_p.K74N|TNIK_ENST00000475336.1_Missense_Mutation_p.K74N|TNIK_ENST00000284483.8_Missense_Mutation_p.K74N|TNIK_ENST00000470834.1_Missense_Mutation_p.K74N|TNIK_ENST00000357327.5_Missense_Mutation_p.K74N	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GAGAATATTTCTTCAACATGT	0.358																																					p.K74N		.											.	.	.	0			c.G222T						.						140	133	135					3																	170928989		1822	4084	5906	SO:0001583	missense	23043	exon4			ATATTTCTTCAAC	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.222G>T	3.37:g.170928989C>A	ENSP00000399511:p.Lys74Asn	122	0		119	27	NM_001161562	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389996	0.82902	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	6.16	5.24	0.73138	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	0.79393	0.4438	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;0.998;0.998;1.0;0.998	P;D;D;D;D;D;D;D	0.83275	0.899;0.987;0.996;0.966;0.987;0.987;0.996;0.993	T	0.81353	-0.0971	10	0.87932	D	0	.	12.4171	0.55500	0.0:0.8531:0.0:0.1469	.	74;74;74;74;74;74;74;74	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	N	74;74;74;74;74;74;74;74;74;74;48	ENSP00000399511:K74N;ENSP00000358332:K74N;ENSP00000443278:K74N;ENSP00000345352:K74N;ENSP00000284483:K74N;ENSP00000418156:K74N;ENSP00000349880:K74N;ENSP00000418916:K74N;ENSP00000418378:K74N;ENSP00000419990:K74N;ENSP00000417338:K48N	ENSP00000284483:K74N	K	-	3	2	TNIK	172411683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.042000	0.57347	1.487000	0.48415	0.650000	0.86243	AAG	.		0.358	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		A	170928989	C	A	170928989	3	1	26	1	0	0	0	0	1	0	0	0	16360	912	32	3	3980	3	TNIK	3	170928989	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	22032684	170928989	27093441	30	4234											
KIAA0232	9778	hgsc.bcm.edu	37	4	6863223	6863223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:6863223G>T	ENST00000307659.5	+	7	1569	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.E372*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	372							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACCTTTAAAAGAAATAGGGAG	0.458																																					p.E372X		.											KIAA0232,NS,carcinoma,0,1	KIAA0232	0	0			c.G1114T						.						70	73	72					4																	6863223		1854	4100	5954	SO:0001587	stop_gained	9778	exon7			TTAAAAGAAATAG	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1114G>T	4.37:g.6863223G>T	ENSP00000303928:p.Glu372*	50	0		49	2	NM_014743	A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	39	7.350488	0.98228	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.84	5.84	0.93424	.	0.212673	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.6186	20.1511	0.98086	0.0:0.0:1.0:0.0	.	.	.	.	X	372	.	ENSP00000303928:E372X	E	+	1	0	KIAA0232	6914124	1.000000	0.71417	0.339000	0.25562	0.068000	0.16541	6.389000	0.73199	2.778000	0.95560	0.655000	0.94253	GAA	.		0.458	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		T	6863223	G	T	6863223	4	4	26	1	0	0	0	0	0	1	0	0	8190	943	33	3	1132	3	KIAA0232	4	6863223	Nonsense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		6863223	184291053	31	4235											
NIPAL1	152519	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	48037901	48037901	+	Silent	SNP	A	A	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:48037901A>T	ENST00000295461.5	+	6	1011	c.945A>T	c.(943-945)acA>acT	p.T315T		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	315						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TATTCTTCACATCCATGGTAG	0.408																																					p.T315T		.											.	.	.	0			c.A945T						.						160	145	150					4																	48037901		2203	4300	6503	SO:0001819	synonymous_variant	152519	exon6			CTTCACATCCATG	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.945A>T	4.37:g.48037901A>T		79	0		48	13	NM_207330	B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	37	CCDS3479.1																																																																																			.		0.408	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		T	48037901	A	T	48037901	2	4	26	1	0	0	0	0	0	0	0	1	10463	204	8	5		5	NIPAL1	4	48037901	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	41174678	48037901	143116375	32	4236											
TXK	7294	hgsc.bcm.edu;broad.mit.edu	37	4	48096207	48096207	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:48096207G>A	ENST00000264316.4	-	8	681	c.596C>T	c.(595-597)gCc>gTc	p.A199V	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	199	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						ATGTTTTATGGCAGCCTCCGT	0.383																																					p.A199V		.											.	.	.	0			c.C596T						.						112	104	107					4																	48096207		2203	4300	6503	SO:0001583	missense	7294	exon8			TTTATGGCAGCCT	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.596C>T	4.37:g.48096207G>A	ENSP00000264316:p.Ala199Val	53	0		62	4	NM_003328	Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.319052	0.10845	.	.	ENSG00000074966	ENST00000264316	D	0.88586	-2.4	5.23	4.35	0.52113	SH2 motif (5);	0.899231	0.09501	N	0.793599	T	0.75474	0.3854	N	0.11255	0.115	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.65203	-0.6225	10	0.13108	T	0.6	.	4.7482	0.13047	0.1974:0.1775:0.6251:0.0	.	199	P42681	TXK_HUMAN	V	199	ENSP00000264316:A199V	ENSP00000264316:A199V	A	-	2	0	TXK	47790964	0.997000	0.39634	0.990000	0.47175	0.053000	0.15095	2.535000	0.45685	1.346000	0.45694	0.650000	0.86243	GCC	.		0.383	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		A	48096207	G	A	48096207	3	1	26	1	0	0	0	0	1	0	0	0	16835	1203	42	3	1019	3	TXK	4	48096207	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	58306	48096207	143058069	33	4237											
WDFY3	23001	hgsc.bcm.edu	37	4	85678262	85678262	+	Silent	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:85678262G>A	ENST00000295888.4	-	33	5648	c.5241C>T	c.(5239-5241)aaC>aaT	p.N1747N	WDFY3_ENST00000322366.6_Silent_p.N1747N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1747					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGCATCTCGGTTAATCTCCC	0.448																																					p.N1747N		.											.	.	.	0			c.C5241T						.						140	132	134					4																	85678262		2203	4300	6503	SO:0001819	synonymous_variant	23001	exon33			ATCTCGGTTAATC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5241C>T	4.37:g.85678262G>A		94	0		71	3	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	CCDS3609.1																																																																																			.		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85678262	G	A	85678262	2	1	26	1	0	0	0	0	0	0	0	1	17319	1252	44	3		3	WDFY3	4	85678262	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	37582055	85678262	105476014	34	4238											
DSPP	1834	bcgsc.ca	37	4	88536880	88536880	+	Silent	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:88536880C>T	ENST00000282478.7	+	4	3099	c.3066C>T	c.(3064-3066)agC>agT	p.S1022S	DSPP_ENST00000399271.1_Silent_p.S1022S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1022	Asp/Ser-rich.			S -> G (in Ref. 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)		gtgacagcagcaatagcagtg	0.517																																					p.S1022S													.	DSPP	174	0			c.C3066T						.						43	36	39					4																	88536880		1598	2799	4397	SO:0001819	synonymous_variant	1834	exon5			CAGCAGCAATAGC	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.3066C>T	4.37:g.88536880C>T		58	1		60	7	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.517	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536880	C	T	88536880	2	4	26	1	0	0	0	0	0	0	0	1	4796	709	25	3		3	DSPP	4	88536880	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	2858618	88536880	102617396	35	4239											
DSPP	1834	bcgsc.ca	37	4	88537225	88537225	+	Missense_Mutation	SNP	C	C	A	rs201608130|rs200679221		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:88537225C>A	ENST00000282478.7	+	4	3444	c.3411C>A	c.(3409-3411)gaC>gaA	p.D1137E	DSPP_ENST00000399271.1_Missense_Mutation_p.D1137E|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)		atagcagtgacagcagcaaca	0.562																																					p.D1137E													.	DSPP	174	0			c.C3411A						.						23	34	31					4																	88537225		1394	2644	4038	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.3411C>A	4.37:g.88537225C>A	ENSP00000282478:p.Asp1137Glu	33	0		48	7	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	0.286	-0.983242	0.02180	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.8	-0.124	0.13523	.	1.128020	0.07042	N	0.830287	T	0.77638	0.4160	L	0.34521	1.04	0.09310	N	0.999993	B	0.24768	0.111	B	0.21708	0.036	T	0.62595	-0.6821	10	0.46703	T	0.11	-1.6689	2.3607	0.04307	0.2942:0.5173:0.0:0.1885	.	1137	Q9NZW4	DSPP_HUMAN	E	1137	ENSP00000382213:D1137E;ENSP00000282478:D1137E	ENSP00000282478:D1137E	D	+	3	2	DSPP	88756249	0.765000	0.28485	0.234000	0.24042	0.018000	0.09664	-0.576000	0.05854	-0.053000	0.13289	0.291000	0.19559	GAC	.		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537225	C	A	88537225	3	1	26	1	0	0	0	0	1	0	0	0	4796	477	17	3	3425	3	DSPP	4	88537225	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	345	88537225	102617051	36	4240											
PRSS12	8492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	119259352	119259352	+	Missense_Mutation	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:119259352A>G	ENST00000296498.3	-	2	902	c.620T>C	c.(619-621)aTt>aCt	p.I207T		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	207	SRCR 1. {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)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTGGTGACAAATGACTGATGC	0.488																																					p.I207T		.											.	.	.	0			c.T620C						.						112	100	104					4																	119259352		2203	4300	6503	SO:0001583	missense	8492	exon2			TGACAAATGACTG	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.620T>C	4.37:g.119259352A>G	ENSP00000296498:p.Ile207Thr	33	0		21	8	NM_003619	Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462400	0.63513	.	.	ENSG00000164099	ENST00000296498	T	0.31247	1.5	5.57	0.0311	0.14169	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.759418	0.13196	N	0.406345	T	0.24044	0.0582	L	0.59436	1.845	0.09310	N	1	P	0.36354	0.549	B	0.31946	0.138	T	0.11299	-1.0593	10	0.54805	T	0.06	.	5.6362	0.17538	0.5928:0.2723:0.1349:0.0	.	207	P56730	NETR_HUMAN	T	207	ENSP00000296498:I207T	ENSP00000296498:I207T	I	-	2	0	PRSS12	119478800	0.401000	0.25303	0.011000	0.14972	0.941000	0.58515	2.441000	0.44864	-0.188000	0.10499	-0.462000	0.05337	ATT	.		0.488	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			G	119259352	A	G	119259352	3	3	26	1	0	0	0	0	1	0	0	0	12657	101	4	4	2055	4	PRSS12	4	119259352	Missense_Mutation	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	30722127	119259352	71894924	37	4241											
FAT1	2195	hgsc.bcm.edu	37	4	187549428	187549428	+	Missense_Mutation	SNP	C	C	A	rs2304867	byFrequency	TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr4:187549428C>A	ENST00000441802.2	-	9	4899	c.4690G>T	c.(4690-4692)Gct>Tct	p.A1564S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1564	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> T (in dbSNP:rs2304867).		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						TAGGAGGAAGCGGTGAACCAC	0.502										HNSCC(5;0.00058)																											p.A1564S	Colon(197;1040 2055 4143 4984 49344)	.											FAT1,colon,carcinoma,0,2	FAT1	0	0			c.G4690T						.						51	54	53					4																	187549428		2097	4236	6333	SO:0001583	missense	2195	exon9			AGGAAGCGGTGAA	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.4690G>T	4.37:g.187549428C>A	ENSP00000406229:p.Ala1564Ser	29	0		16	2	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	2.695	-0.272375	0.05716	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01192	5.2	5.49	3.09	0.35607	Cadherin (2);Cadherin-like (1);	0.170756	0.64402	N	0.000004	T	0.00440	0.0014	N	0.00966	-1.09	0.34605	P	0.28308500000000003	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	9	0.02654	T	1	.	7.3645	0.26766	0.1287:0.0695:0.0:0.8018	.	1564	Q14517	FAT1_HUMAN	S	1564;1563	ENSP00000406229:A1564S	ENSP00000260147:A1563S	A	-	1	0	FAT1	187786422	0.993000	0.37304	0.998000	0.56505	0.760000	0.43138	2.569000	0.45973	0.530000	0.28619	-1.093000	0.02169	GCT	.		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187549428	C	A	187549428	3	1	26	1	0	0	0	0	1	0	0	0	5711	768	27	2	9152	2	FAT1	4	187549428	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	68290076	187549428	3604848	38	4242											
SLC25A46	91137	hgsc.bcm.edu	37	5	110096916	110096916	+	Silent	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr5:110096916C>A	ENST00000355943.3	+	8	817	c.691C>A	c.(691-693)Cga>Aga	p.R231R	SLC25A46_ENST00000513807.1_Silent_p.R69R|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.R85R|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000509432.1_Silent_p.R18R|SLC25A46_ENST00000509442.2_Silent_p.R140R	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	231					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)		TGAGATAATTCGAGATAATAC	0.353																																					p.R231R		.											SLC25A46,colon,carcinoma,0,3	SLC25A46	0	0			c.C691A						.						106	109	108					5																	110096916		2202	4299	6501	SO:0001819	synonymous_variant	91137	exon8			ATAATTCGAGATA	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.691C>A	5.37:g.110096916C>A		63	0		42	2	NM_138773	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	CCDS4100.1																																																																																			.		0.353	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		A	110096916	C	A	110096916	2	1	26	1	0	0	0	0	0	0	0	1	14556	876	31	2		2	SLC25A46	5	110096916	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		110096916	70818344	39	4243											
SNCAIP	9627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	121758570	121758570	+	Missense_Mutation	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr5:121758570C>A	ENST00000261368.8	+	4	400	c.138C>A	c.(136-138)agC>agA	p.S46R	SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S93R|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S93R|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S46R|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S93R	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	46					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTTTCTAGCTCTAGCTGGA	0.393																																					p.S46R		.											.	.	.	0			c.C138A						.						45	47	47					5																	121758570		2203	4300	6503	SO:0001583	missense	9627	exon4			TTCTAGCTCTAGC	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.138C>A	5.37:g.121758570C>A	ENSP00000261368:p.Ser46Arg	75	0		60	15	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828082	0.71143	.	.	ENSG00000064692	ENST00000514467;ENST00000506272;ENST00000508681;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.72	2.56	0.30785	.	0.133681	0.64402	D	0.000001	T	0.33789	0.0875	L	0.32530	0.975	0.80722	D	1	P;D;P;B	0.62365	0.895;0.991;0.925;0.437	B;P;P;B	0.53809	0.446;0.735;0.571;0.109	T	0.15009	-1.0452	10	0.87932	D	0	-2.4647	12.1876	0.54247	0.0:0.7828:0.0:0.2172	.	46;93;93;46	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	R	46;93;46;46;46;93;46;93;93	ENSP00000427090:S46R;ENSP00000426551:S93R;ENSP00000422610:S46R;ENSP00000422106:S46R;ENSP00000261368:S46R;ENSP00000368848:S93R;ENSP00000368851:S46R;ENSP00000261367:S93R;ENSP00000423199:S93R	ENSP00000261367:S93R	S	+	3	2	SNCAIP	121786469	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.627000	0.37050	0.779000	0.33543	0.655000	0.94253	AGC	.		0.393	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			A	121758570	C	A	121758570	3	1	26	1	0	0	0	0	1	0	0	0	14886	796	28	3	148	3	SNCAIP	5	121758570	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	11661654	121758570	59156690	40	4244											
CDC25C	995	hgsc.bcm.edu	37	5	137621497	137621497	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr5:137621497G>T	ENST00000323760.6	-	14	1584	c.1306C>A	c.(1306-1308)Cat>Aat	p.H436N	CDC25C_ENST00000513970.1_Missense_Mutation_p.H436N|CDC25C_ENST00000357274.3_Missense_Mutation_p.H393N|CDC25C_ENST00000356505.3_Missense_Mutation_p.H406N|CDC25C_ENST00000415130.2_Missense_Mutation_p.H363N|CDC25C_ENST00000514555.1_Missense_Mutation_p.H406N|CDC25C_ENST00000348983.3_Missense_Mutation_p.H363N	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	436					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)			TCCTGATGATGCATAGGGCAG	0.507																																					p.H436N		.											CDC25C,NS,carcinoma,0,1	CDC25C	0	0			c.C1306A						.						107	96	100					5																	137621497		2203	4300	6503	SO:0001583	missense	995	exon14			GATGATGCATAGG	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.1306C>A	5.37:g.137621497G>T	ENSP00000321656:p.His436Asn	76	0		42	2	NM_001790	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.11|12.11	1.839451|1.839451	0.32513|0.32513	.|.	.|.	ENSG00000158402|ENSG00000158402	ENST00000514017|ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	.|T;T;T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.32|5.32	3.51|3.51	0.40186|0.40186	.|Rhodanese-like (2);	.|0.322095	.|0.28665	.|N	.|0.014557	T|T	0.28499|0.28499	0.0705|0.0705	L|L	0.31578|0.31578	0.945|0.945	0.42466|0.42466	D|D	0.992806|0.992806	.|D;D;D;D	.|0.56746	.|0.977;0.977;0.974;0.961	.|P;P;P;B	.|0.51701	.|0.63;0.63;0.677;0.426	T|T	0.02196|0.02196	-1.1197|-1.1197	5|10	.|0.24483	.|T	.|0.36	-18.0561|-18.0561	9.3332|9.3332	0.38034|0.38034	0.0763:0.0:0.7793:0.1445|0.0763:0.0:0.7793:0.1445	.|.	.|453;406;363;436	.|G3V1P6;P30307-2;P30307-4;P30307	.|.;.;.;MPIP3_HUMAN	E|N	237|436;406;393;363;363;436;453;406	.|ENSP00000321656:H436N;ENSP00000348898:H406N;ENSP00000349821:H393N;ENSP00000345205:H363N;ENSP00000392631:H363N;ENSP00000424795:H436N;ENSP00000425470:H406N	.|ENSP00000321656:H436N	A|H	-|-	2|1	0|0	CDC25C|CDC25C	137649396|137649396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.428000|4.428000	0.59894|0.59894	0.787000|0.787000	0.33731|0.33731	0.655000|0.655000	0.94253|0.94253	GCA|CAT	.		0.507	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			T	137621497	G	T	137621497	3	4	26	1	0	0	0	0	1	0	0	0	3071	1319	46	3	119	3	CDC25C	5	137621497	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	15862927	137621497	43293763	41	4245											
TCERG1	10915	broad.mit.edu	37	5	145859643	145859643	+	Silent	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr5:145859643A>G	ENST00000296702.5	+	12	1910	c.1872A>G	c.(1870-1872)aaA>aaG	p.K624K	TCERG1_ENST00000394421.2_Silent_p.K603K	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	624					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTGTTAAAGCAAAAAAAC	0.284																																					p.K624K													.	TCERG1	148	0			c.A1872G						.						41	47	45					5																	145859643		2195	4288	6483	SO:0001819	synonymous_variant	10915	exon12			TGTTAAAGCAAAA	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1872A>G	5.37:g.145859643A>G		128	0		108	4	NM_006706	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																			.		0.284	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		G	145859643	A	G	145859643	2	3	26	1	0	0	0	0	0	0	0	1	15732	69	3	4		4	TCERG1	5	145859643	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	8238146	145859643	35055617	42	4246											
ATP10B	23120	hgsc.bcm.edu	37	5	160047807	160047807	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr5:160047807C>T	ENST00000327245.5	-	15	2809	c.1963G>A	c.(1963-1965)Gtg>Atg	p.V655M	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	655					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)			GTGGTGGCCACGTTGGCCCCT	0.567																																					p.V655M		.											ATP10B,NS,carcinoma,0,1	ATP10B	0	0			c.G1963A						.						79	84	82					5																	160047807		2149	4246	6395	SO:0001583	missense	23120	exon15			TGGCCACGTTGGC	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.1963G>A	5.37:g.160047807C>T	ENSP00000313600:p.Val655Met	36	0		26	2	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.788793	0.02884	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.42900	0.96;2.01	5.36	-10.7	0.00240	HAD-like domain (1);	3.007070	0.00604	N	0.000384	T	0.16896	0.0406	N	0.11255	0.115	0.09310	N	1	B;B	0.21147	0.036;0.052	B;B	0.17098	0.01;0.017	T	0.08597	-1.0714	9	.	.	.	.	3.4713	0.07569	0.1456:0.3869:0.0863:0.3813	.	263;655	Q2YDW8;O94823	.;AT10B_HUMAN	M	655;263	ENSP00000313600:V655M;ENSP00000431081:V263M	.	V	-	1	0	ATP10B	159980385	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.853000	0.01666	-2.085000	0.00864	-0.742000	0.03525	GTG	.		0.567	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160047807	C	T	160047807	3	4	26	1	0	0	0	0	1	0	0	0	1118	536	19	1	2470	1	ATP10B	5	160047807	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	14188164	160047807	20867453	43	4247											
B4GALT7	11285	bcgsc.ca	37	5	177035587	177035587	+	Silent	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr5:177035587C>T	ENST00000029410.5	+	4	798	c.687C>T	c.(685-687)gaC>gaT	p.D229D	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	229	N-acetyl-D-glucosamine binding. {ECO:0000250}.				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)			GCGAGGACGACGAGTTCTACC	0.657																																					p.D229D													.	B4GALT7	21	0			c.C687T						.						47	52	50					5																	177035587		2203	4300	6503	SO:0001819	synonymous_variant	11285	exon4			GGACGACGAGTTC	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.687C>T	5.37:g.177035587C>T		117	0		140	6	NM_007255	B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	CCDS4429.1																																																																																			.		0.657	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		T	177035587	C	T	177035587	2	4	26	1	0	0	0	0	0	0	0	1	1277	535	19	1		1	B4GALT7	5	177035587	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	16987780	177035587	3879673	44	4248											
ZKSCAN4	387032	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	28213220	28213220	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr6:28213220C>T	ENST00000377294.2	-	5	1555	c.1312G>A	c.(1312-1314)Ggc>Agc	p.G438S	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G283S	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	438					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						AAGGCTTTGCCACACATATTG	0.478																																					p.G438S		.											.	.	.	0			c.G1312A						.						93	94	94					6																	28213220		2203	4300	6503	SO:0001583	missense	387032	exon5			CTTTGCCACACAT	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.1312G>A	6.37:g.28213220C>T	ENSP00000366509:p.Gly438Ser	68	0		64	14	NM_019110	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735435	0.69189	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.35236	1.32;1.32	5.52	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43322	0.1242	M	0.68728	2.09	0.32441	N	0.546761	D	0.58970	0.984	P	0.61722	0.893	T	0.49808	-0.8900	9	0.66056	D	0.02	.	13.4569	0.61204	0.0:0.923:0.0:0.077	.	438	Q969J2	ZKSC4_HUMAN	S	438;283;144;314	ENSP00000366509:G438S;ENSP00000401978:G283S	ENSP00000349249:G314S	G	-	1	0	ZKSCAN4	28321199	0.020000	0.18652	0.997000	0.53966	0.650000	0.38633	0.854000	0.27791	1.460000	0.47911	0.655000	0.94253	GGC	.		0.478	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		T	28213220	C	T	28213220	3	4	26	1	0	0	0	0	1	0	0	0	17737	594	21	3	329	3	ZKSCAN4	6	28213220	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		28213220	142901847	45	4249											
C2	717	broad.mit.edu	37	6	31903768	31903768	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr6:31903768G>T	ENST00000299367.5	+	7	1194	c.918G>T	c.(916-918)atG>atT	p.M306I	CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.M174I|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.M60I	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AAGTCCTCATGTCTGTCCTGA	0.507																																					p.M306I													.	C2	50	0			c.G918T						.						110	99	103					6																	31903768		1511	2709	4220	SO:0001583	missense	717	exon7			CCTCATGTCTGTC		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.918G>T	6.37:g.31903768G>T	ENSP00000299367:p.Met306Ile	106	0		63	3	NM_000063	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484413	0.26598	.	.	ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000299367;ENST00000442278	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.73	3.9	0.45041	von Willebrand factor, type A (3);	0.142631	0.32608	N	0.005868	T	0.55481	0.1923	.	.	.	0.80722	D	1	B;B;B;B;B	0.18968	0.006;0.001;0.003;0.001;0.032	B;B;B;B;B	0.18871	0.015;0.006;0.005;0.004;0.023	T	0.56902	-0.7902	9	0.33141	T	0.24	-16.0475	4.0007	0.09579	0.0857:0.1632:0.5818:0.1693	.	277;60;174;306;93	B4DV48;B4DQI1;E9PFN7;P06681;E9PDZ0	.;.;.;CO2_HUMAN;.	I	60;93;93;306;174	ENSP00000418923:M60I;ENSP00000417482:M93I;ENSP00000299367:M306I;ENSP00000395683:M174I	ENSP00000299367:M306I	M	+	3	0	C2	32011747	0.903000	0.30736	0.999000	0.59377	0.520000	0.34377	0.467000	0.22035	1.389000	0.46526	0.467000	0.42956	ATG	.		0.507	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			T	31903768	G	T	31903768	3	4	26	1	0	0	0	0	1	0	0	0	2081	1377	48	3	1021	3	C2	6	31903768	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	3690548	31903768	139211299	46	4250											
FTSJD2	23070	hgsc.bcm.edu;bcgsc.ca	37	6	37421057	37421057	+	Missense_Mutation	SNP	G	G	A	rs542833926		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr6:37421057G>A	ENST00000373451.4	+	8	910	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	249	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)										GTATTTGATCGCATGTTCACA	0.428													G|||	1	0.000199681	0	0	5008	,	,		610	0		0	False		,,,				2504	0.001				p.R249H		.											.	.	.	0			c.G746A						.						196	178	184					6																	37421057		2203	4300	6503	SO:0001583	missense	23070	exon8			TTGATCGCATGTT	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.746G>A	6.37:g.37421057G>A	ENSP00000362550:p.Arg249His	63	0		52	4	NM_015050	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513151	0.27123	.	.	ENSG00000137200	ENST00000373451	T	0.29142	1.58	5.92	1.08	0.20341	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.650782	0.17782	N	0.162203	T	0.04452	0.0122	N	0.08118	0	0.28605	N	0.908947	B	0.11235	0.004	B	0.12156	0.007	T	0.38972	-0.9636	10	0.38643	T	0.18	-1.4057	5.6788	0.17763	0.4448:0.1336:0.4216:0.0	.	249	Q8N1G2	MTR1_HUMAN	H	249	ENSP00000362550:R249H	ENSP00000362550:R249H	R	+	2	0	FTSJD2	37529035	0.957000	0.32711	0.994000	0.49952	0.994000	0.84299	0.416000	0.21198	-0.080000	0.12685	0.650000	0.86243	CGC	.		0.428	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		A	37421057	G	A	37421057	3	1	26	1	0	0	0	0	1	0	0	0	6115	1087	38	1	772	1	FTSJD2	6	37421057	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	5517289	37421057	133694010	47	4251											
DNAH8	1769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	38840868	38840868	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr6:38840868G>A	ENST00000359357.3	+	49	7027	c.6773G>A	c.(6772-6774)aGg>aAg	p.R2258K	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2475K|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2222K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2258	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						ACGGTTTCTAGGATGGGCATG	0.522																																					p.R2475K		.											.	.	.	0			c.G7424A						.						91	93	92					6																	38840868		2203	4300	6503	SO:0001583	missense	1769	exon51			TTTCTAGGATGGG	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.6773G>A	6.37:g.38840868G>A	ENSP00000352312:p.Arg2258Lys	57	0		41	14	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	36	5.633736	0.96682	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73258	-0.73;-0.73;-0.73	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93475	0.6822	10	0.87932	D	0	.	20.0621	0.97678	0.0:0.0:1.0:0.0	.	2258	Q96JB1	DYH8_HUMAN	K	2463;2463;2258;2222	ENSP00000333363:R2463K;ENSP00000352312:R2258K;ENSP00000402294:R2222K	ENSP00000333363:R2463K	R	+	2	0	DNAH8	38948846	1.000000	0.71417	0.962000	0.40283	0.983000	0.72400	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	AGG	.		0.522	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38840868	G	A	38840868	3	1	26	1	0	0	0	0	1	0	0	0	4621	1000	35	3	6959	3	DNAH8	6	38840868	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	1419811	38840868	132274199	48	4252											
FIG4	9896	hgsc.bcm.edu	37	6	110059612	110059612	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr6:110059612G>A	ENST00000230124.3	+	7	855	c.731G>A	c.(730-732)cGt>cAt	p.R244H	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	244	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				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)	p.R244H(1)		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)		ACTGTGCATCGTGACTGGCTT	0.333																																					p.R244H		.											FIG4,NS,carcinoma,0,2	FIG4	0	1	Substitution - Missense(1)	lung(1)	c.G731A						.						153	154	154					6																	110059612		2203	4299	6502	SO:0001583	missense	9896	exon7			TGCATCGTGACTG	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.731G>A	6.37:g.110059612G>A	ENSP00000230124:p.Arg244His	101	0		91	4	NM_014845	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183886	0.38609	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.56941	0.43;0.43	5.67	2.94	0.34122	Synaptojanin, N-terminal (2);	0.429330	0.26804	N	0.022407	T	0.13970	0.0338	N	0.04746	-0.17	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.04440	-1.0951	10	0.34782	T	0.22	-3.9874	10.3077	0.43691	0.2706:0.0:0.7294:0.0	.	244	Q92562	FIG4_HUMAN	H	244;223	ENSP00000230124:R244H;ENSP00000412156:R223H	ENSP00000230124:R244H	R	+	2	0	FIG4	110166305	0.914000	0.31030	1.000000	0.80357	0.991000	0.79684	0.478000	0.22212	0.751000	0.32900	0.655000	0.94253	CGT	.		0.333	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		A	110059612	G	A	110059612	3	1	26	1	0	0	0	0	1	0	0	0	5910	1145	40	1	757	1	FIG4	6	110059612	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	71218744	110059612	61055455	49	4253											
FAM184A	79632	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	119345170	119345170	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr6:119345170C>T	ENST00000338891.7	-	2	1411	c.968G>A	c.(967-969)tGc>tAc	p.C323Y	FAM184A_ENST00000522284.1_Missense_Mutation_p.C203Y|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.C203Y|FAM184A_ENST00000352896.5_Missense_Mutation_p.C203Y|FAM184A_ENST00000521531.1_Missense_Mutation_p.C323Y	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	323						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTTTTGGCATTTGTCAAG	0.333																																					p.C323Y		.											.	.	.	0			c.G968A						.						125	121	123					6																	119345170		1827	4079	5906	SO:0001583	missense	79632	exon2			TTTTGGCATTTGT	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.968G>A	6.37:g.119345170C>T	ENSP00000342604:p.Cys323Tyr	88	0		62	5	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347628	0.41599	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00348	8.0;8.0;8.0;8.0;8.0	5.33	5.33	0.75918	.	0.096943	0.64402	D	0.000001	T	0.00356	0.0011	L	0.51422	1.61	0.49051	D	0.99974	D;D;D	0.67145	0.995;0.986;0.996	P;P;P	0.61800	0.858;0.742;0.894	D	0.90894	0.4763	10	0.51188	T	0.08	-1.6065	19.376	0.94508	0.0:1.0:0.0:0.0	.	323;203;323	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Y	323;203;203;323;203	ENSP00000342604:C323Y;ENSP00000326608:C203Y;ENSP00000357460:C203Y;ENSP00000430442:C323Y;ENSP00000429826:C203Y	ENSP00000342604:C323Y	C	-	2	0	FAM184A	119386869	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	5.811000	0.69187	2.656000	0.90262	0.591000	0.81541	TGC	.		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		T	119345170	C	T	119345170	3	4	26	1	0	0	0	0	1	0	0	0	5530	710	25	3	2522	3	FAM184A	6	119345170	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	9285558	119345170	51769897	50	4254											
TBP	6908	hgsc.bcm.edu	37	6	170871016	170871016	+	Silent	SNP	G	G	A	rs542031948		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000230354.6_Silent_p.Q64Q|TBP_ENST00000540980.1_Silent_p.Q44Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	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)			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)		aacaacaacagcagcagcagc	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		14897	0		0	False		,,,				2504	0				p.Q64Q		.											TBP,NS,carcinoma,0,2	TBP	0	0			c.G192A						.						31	35	33					6																	170871016		2202	4292	6494	SO:0001819	synonymous_variant	6908	exon3			ACAACAGCAGCAG	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.192G>A	6.37:g.170871016G>A		34	0		36	3	NM_003194	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.557	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871016	G	A	170871016	2	1	26	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871016	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	51525846	170871016	244051	51	4255											
ZDHHC4	55146	hgsc.bcm.edu	37	7	6621822	6621822	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:6621822C>T	ENST00000396706.2	+	5	753	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	ZDHHC4_ENST00000396707.2_Missense_Mutation_p.P104S|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.P104S|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.P104S|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.P104S|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.P104S|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	104			P -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P104S(2)		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)		CCTTCTTCTGCCCTATCTGCT	0.483																																					p.P104S		.											ZDHHC4,caecum,carcinoma,-1,2	ZDHHC4	-1	2	Substitution - Missense(2)	breast(2)	c.C310T						.						315	276	289					7																	6621822		2203	4300	6503	SO:0001583	missense	55146	exon5			CTTCTGCCCTATC	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.310C>T	7.37:g.6621822C>T	ENSP00000379934:p.Pro104Ser	97	0		48	2	NM_018106	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.257481	0.80246	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000483589;ENST00000396706	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.38;1.3	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	0.959;1.0	P;D	0.97110	0.631;1.0	T	0.57087	-0.7871	10	0.23302	T	0.38	-23.1876	16.7439	0.85467	0.0:1.0:0.0:0.0	.	104;104	Q9NPG8;C9J5I9	ZDHC4_HUMAN;.	S	104	ENSP00000385027:P104S;ENSP00000379941:P104S;ENSP00000379935:P104S;ENSP00000337475:P104S;ENSP00000379937:P104S;ENSP00000418496:P104S;ENSP00000379934:P104S	ENSP00000337475:P104S	P	+	1	0	ZDHHC4	6588347	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.168000	0.77570	2.728000	0.93425	0.655000	0.94253	CCC	.		0.483	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		T	6621822	C	T	6621822	3	4	26	1	0	0	0	0	1	0	0	0	17665	739	26	3	320	3	ZDHHC4	7	6621822	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		6621822	152516841	52	4256											
INMT	11185	hgsc.bcm.edu;bcgsc.ca	37	7	30793366	30793366	+	Silent	SNP	G	G	A	rs199553396		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:30793366G>A	ENST00000013222.5	+	2	190	c.174G>A	c.(172-174)acG>acA	p.T58T	INMT-FAM188B_ENST00000458257.1_Silent_p.T57T|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Silent_p.T57T	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	58					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)	p.T58T(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AAGGGGACACGCTGATTGACA	0.542																																					p.T58T		.											INMT,NS,carcinoma,0,2	INMT	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A						.						275	254	261					7																	30793366		2203	4300	6503	SO:0001819	synonymous_variant	11185	exon2			GGACACGCTGATT		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.174G>A	7.37:g.30793366G>A		85	0		60	5	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	CCDS5430.1																																																																																			0.001		0.542	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		A	30793366	G	A	30793366	2	1	26	1	0	0	0	0	0	0	0	1	7772	1074	38	1		1	INMT	7	30793366	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	24171544	30793366	128345297	53	4257											
EGFR	1956	hgsc.bcm.edu	37	7	55249155	55249155	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:55249155G>T	ENST00000275493.2	+	20	2630	c.2453G>T	c.(2452-2454)tGt>tTt	p.C818F	EGFR_ENST00000454757.2_Missense_Mutation_p.C765F|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.C773F|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	818	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.C818Y(1)		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)	CTCAACTGGTGTGTGCAGATC	0.562		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.C818F		.	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,colon,carcinoma,+1,1	EGFR	+1	1	Substitution - Missense(1)	pancreas(1)	c.G2453T						.						79	70	73					7																	55249155		2203	4300	6503	SO:0001583	missense	1956	exon20	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	ACTGGTGTGTGCA		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.2453G>T	7.37:g.55249155G>T	ENSP00000275493:p.Cys818Phe	68	0		52	3	NM_005228	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627701	0.87560	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61040	0.14;0.14;0.14	5.92	5.92	0.95590	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	0.71533	0.3351	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.964;1.0	T	0.72308	-0.4332	10	0.87932	D	0	.	18.8719	0.92319	0.0:0.0:1.0:0.0	.	773;818	Q504U8;P00533	.;EGFR_HUMAN	F	773;688;818;765	ENSP00000415559:C773F;ENSP00000275493:C818F;ENSP00000395243:C765F	ENSP00000275493:C818F	C	+	2	0	EGFR	55216649	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.834000	0.86773	2.795000	0.96236	0.655000	0.94253	TGT	.		0.562	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55249155	G	T	55249155	3	4	26	1	0	0	0	0	1	0	0	0	4981	1377	48	3	2795	3	EGFR	7	55249155	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	24455789	55249155	103889508	54	4258											
FBXL13	222235	hgsc.bcm.edu	37	7	102518847	102518847	+	Missense_Mutation	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:102518847C>A	ENST00000313221.4	-	15	1865	c.1439G>T	c.(1438-1440)aGg>aTg	p.R480M	FBXL13_ENST00000393772.2_Missense_Mutation_p.R480M|FBXL13_ENST00000379308.3_Missense_Mutation_p.R480M|FBXL13_ENST00000455112.2_Missense_Mutation_p.R480M|FBXL13_ENST00000379305.3_Missense_Mutation_p.R480M|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.R480M	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	480										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTCTCTTATCCTCATGCTTGC	0.348																																					p.R480M		.											.	.	.	0			c.G1439T						.						125	112	117					7																	102518847		2203	4300	6503	SO:0001583	missense	222235	exon15			CTTATCCTCATGC	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1439G>T	7.37:g.102518847C>A	ENSP00000321927:p.Arg480Met	73	0		71	4	NM_001111038	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.707293	0.48412	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.12255	2.7;4.01;2.7;4.01;4.01;4.01	5.38	-7.86	0.01187	.	0.533626	0.18434	N	0.141351	T	0.29223	0.0727	M	0.85197	2.74	0.22500	N	0.999049	D;P;B	0.54047	0.964;0.917;0.335	P;P;B	0.55161	0.77;0.668;0.264	T	0.43782	-0.9370	10	0.87932	D	0	.	17.1899	0.86876	0.0:0.1916:0.0:0.8084	.	480;480;480	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	M	480;480;201;480;480;480;480	ENSP00000377367:R480M;ENSP00000368610:R480M;ENSP00000368607:R480M;ENSP00000388608:R480M;ENSP00000321927:R480M;ENSP00000391550:R480M	ENSP00000321927:R480M	R	-	2	0	FBXL13	102306083	0.011000	0.17503	0.000000	0.03702	0.738000	0.42128	-0.677000	0.05215	-1.935000	0.01049	-1.650000	0.00758	AGG	.		0.348	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		A	102518847	C	A	102518847	3	1	26	1	0	0	0	0	1	0	0	0	5731	681	24	3	792	3	FBXL13	7	102518847	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	47269692	102518847	56619816	55	4259											
ZC3HAV1	56829	hgsc.bcm.edu;broad.mit.edu	37	7	138768749	138768749	+	Silent	SNP	C	C	T	rs368718217		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:138768749C>T	ENST00000242351.5	-	3	790	c.474G>A	c.(472-474)cgG>cgA	p.R158R	ZC3HAV1_ENST00000464606.1_Silent_p.R158R|ZC3HAV1_ENST00000471652.1_Silent_p.R158R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	158	N-terminal domain.				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						AAATCTGCTGCCGACCCTCTC	0.478																																					p.R158R		.											ZC3HAV1,colon,carcinoma,0,1	ZC3HAV1	0	0			c.G474A						.	C	,	0,4406		0,0,2203	94	91	92		474,474	-7.3	0	7		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZC3HAV1	NM_020119.3,NM_024625.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	158/903,158/700	138768749	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56829	exon3			CTGCTGCCGACCC	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.474G>A	7.37:g.138768749C>T		67	0		47	3	NM_024625	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	CCDS5851.1																																																																																			.		0.478	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		T	138768749	C	T	138768749	2	4	26	1	0	0	0	0	0	0	0	1	17623	726	26	3		3	ZC3HAV1	7	138768749	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	36249902	138768749	20369914	56	4260											
TTC26	79989	hgsc.bcm.edu;bcgsc.ca	37	7	138819535	138819535	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:138819535G>T	ENST00000464848.1	+	2	218	c.138G>T	c.(136-138)ttG>ttT	p.L46F	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Missense_Mutation_p.L46F|TTC26_ENST00000343187.4_Missense_Mutation_p.L46F|TTC26_ENST00000474035.2_Missense_Mutation_p.L46F|TTC26_ENST00000495038.1_Missense_Mutation_p.L46F|TTC26_ENST00000430935.1_Missense_Mutation_p.L46F			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	46					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTACCCTGTTGGAGGTAATGC	0.418																																					p.L46F		.											.	.	.	0			c.G138T						.						76	70	72					7																	138819535		2203	4300	6503	SO:0001583	missense	79989	exon2			CCTGTTGGAGGTA	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.138G>T	7.37:g.138819535G>T	ENSP00000419279:p.Leu46Phe	91	0		58	4	NM_001144920	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976909	0.74360	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.68331	-0.06;1.68;1.3;-0.05;-0.32	6.06	3.11	0.35812	Tetratricopeptide-like helical (1);	0.143826	0.43416	D	0.000564	T	0.80686	0.4670	M	0.91354	3.2	0.58432	D	0.999999	P;P;D;D;P;P;D	0.89917	0.745;0.9;0.999;0.987;0.745;0.826;1.0	B;P;D;P;B;B;D	0.70716	0.276;0.451;0.933;0.672;0.351;0.293;0.97	T	0.79132	-0.1929	10	0.87932	D	0	.	3.6621	0.08242	0.0774:0.2155:0.445:0.2621	.	46;46;46;46;46;46;46	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	F	46	ENSP00000410655:L46F;ENSP00000418788:L46F;ENSP00000419178:L46F;ENSP00000419279:L46F;ENSP00000339135:L46F	ENSP00000339135:L46F	L	+	3	2	TTC26	138470075	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	1.751000	0.38339	0.869000	0.35703	0.650000	0.86243	TTG	.		0.418	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		T	138819535	G	T	138819535	3	4	26	1	0	0	0	0	1	0	0	0	16743	1339	47	3	144	3	TTC26	7	138819535	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	50786	138819535	20319128	57	4261											
SSPO	23145	hgsc.bcm.edu	37	7	149503923	149503924	+	RNA	DNP	TA	TA	GT			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	TA	TA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:149503923_149503924TA>GT	ENST00000378016.2	+	0	8747_8748							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)			CCGGGATAGATAGAGTGTACGG	0.658																																					.		.											.	.	.	0			c.A8748T						.																																					23145	exon60			ATAGATAGAGTGT	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	Exception_encountered	7.37:g.149503923_149503924delinsGT		71	0		62	4	NM_198455	Q76B61	Silent	DNP	ENST00000378016.2	37																																																																																				.		0.658	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				GT	149503924	TA	GT	149503923	1	3	26	0	1	0	0	0	0	0	0	0	15236	1403	49	4		4	SSPO	7	149503923	RNA	DNP	TA	TCGA-WD-A7RX-01A-12D-A417-09	10684388	149503923	9634740	58	4262											
GALNT11	63917	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	151800310	151800310	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr7:151800310C>T	ENST00000434507.1	+	6	970	c.533C>T	c.(532-534)aCg>aTg	p.T178M	GALNT11_ENST00000415421.1_Missense_Mutation_p.T178M|GALNT11_ENST00000452146.2_Missense_Mutation_p.T97M|GALNT11_ENST00000430044.2_Missense_Mutation_p.T178M|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000320311.2_Missense_Mutation_p.T178M			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	178	Catalytic subdomain A.				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)		ATAGACCGCACGCCAGCACAC	0.488																																					p.T178M		.											.	.	.	0			c.C533T						.						176	136	149					7																	151800310		2203	4300	6503	SO:0001583	missense	63917	exon4			ACCGCACGCCAGC	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.533C>T	7.37:g.151800310C>T	ENSP00000416787:p.Thr178Met	60	0		38	4	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972739	0.74246	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.0	5.0	0.66597	Glycosyl transferase, family 2 (1);	0.109437	0.64402	D	0.000008	D	0.85296	0.5664	H	0.94734	3.575	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	0.89884	0.4032	10	0.87932	D	0	.	18.3133	0.90208	0.0:1.0:0.0:0.0	.	97;178;178	B7Z5G5;Q8NCW6-2;Q8NCW6	.;.;GLT11_HUMAN	M	178;97;178;178;178;178;178	ENSP00000395122:T178M;ENSP00000393399:T97M;ENSP00000416787:T178M;ENSP00000410093:T178M;ENSP00000315835:T178M;ENSP00000397581:T178M	ENSP00000315835:T178M	T	+	2	0	GALNT11	151431243	1.000000	0.71417	0.929000	0.37066	0.390000	0.30446	5.982000	0.70532	2.313000	0.78055	0.655000	0.94253	ACG	.		0.488	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		T	151800310	C	T	151800310	3	4	26	1	0	0	0	0	1	0	0	0	6234	536	19	1	543	1	GALNT11	7	151800310	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	2296387	151800310	7338353	59	4263											
TUSC3	7991	hgsc.bcm.edu;bcgsc.ca	37	8	15531281	15531281	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr8:15531281G>A	ENST00000503731.1	+	6	882	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TUSC3_ENST00000509380.1_Missense_Mutation_p.G245D|TUSC3_ENST00000506802.1_Missense_Mutation_p.G245D|TUSC3_ENST00000382020.4_Missense_Mutation_p.G245D|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	245					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ATGACTTCTGGCCAGATGTGG	0.378																																					p.G245D		.											.	.	.	0			c.G734A						.						162	136	145					8																	15531281		2203	4300	6503	SO:0001583	missense	7991	exon6			CTTCTGGCCAGAT	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.734G>A	8.37:g.15531281G>A	ENSP00000424544:p.Gly245Asp	76	0		53	4	NM_178234	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057694	0.93846	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.87097	2.86	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	0.998;0.999;0.998;0.999;0.998;1.0	D	0.95514	0.8588	10	0.87932	D	0	-11.927	16.8849	0.86073	0.0:0.0:1.0:0.0	.	245;245;245;245;245;245	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	D	245	ENSP00000371450:G245D;ENSP00000425777:G245D;ENSP00000423426:G245D;ENSP00000424544:G245D	ENSP00000221167:G245D	G	+	2	0	TUSC3	15575652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.955000	0.93058	2.768000	0.95171	0.655000	0.94253	GGC	.		0.378	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		A	15531281	G	A	15531281	3	1	26	1	0	0	0	0	1	0	0	0	16827	1203	42	3	756	3	TUSC3	8	15531281	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		15531281	130832741	60	4264											
CA3	761	hgsc.bcm.edu	37	8	86351153	86351153	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr8:86351153G>T	ENST00000285381.2	+	1	98	c.15G>T	c.(13-15)tgG>tgT	p.W5C	RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	5					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)	CCAAGGAGTGGGGCTACGCCA	0.637																																					p.W5C		.											.	.	.	0			c.G15T						.						66	45	53					8																	86351153		1800	3367	5167	SO:0001583	missense	761	exon1			GGAGTGGGGCTAC	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.15G>T	8.37:g.86351153G>T	ENSP00000285381:p.Trp5Cys	136	0		104	5	NM_005181	B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546340	0.65198	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	D	0.82711	-1.64	4.93	4.05	0.47172	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.165048	0.64402	D	0.000015	D	0.94371	0.8190	H	0.98559	4.265	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.96203	0.9147	10	0.87932	D	0	-10.797	14.1035	0.65072	0.0:0.0:0.8485:0.1515	.	5	P07451	CAH3_HUMAN	C	5	ENSP00000285381:W5C	ENSP00000285381:W5C	W	+	3	0	CA3	86538405	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.464000	0.66719	1.406000	0.46857	0.655000	0.94253	TGG	.		0.637	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		T	86351153	G	T	86351153	3	4	26	1	0	0	0	0	1	0	0	0	2524	1241	43	3	17	3	CA3	8	86351153	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	70819872	86351153	60012869	61	4265											
ATP6V0D2	245972	hgsc.bcm.edu	37	8	87162459	87162459	+	Missense_Mutation	SNP	G	G	T	rs549611957		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr8:87162459G>T	ENST00000285393.3	+	6	900	c.758G>T	c.(757-759)cGg>cTg	p.R253L	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	253					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						GAGGGGTTGCGGCTGTTGGCT	0.468																																					p.R253L		.											ATP6V0D2,NS,carcinoma,0,1	ATP6V0D2	0	0			c.G758T						.						112	101	104					8																	87162459		2203	4300	6503	SO:0001583	missense	245972	exon6			GGTTGCGGCTGTT	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.758G>T	8.37:g.87162459G>T	ENSP00000285393:p.Arg253Leu	86	0		50	2	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	G	7.484	0.649310	0.14516	.	.	ENSG00000147614	ENST00000285393	T	0.30714	1.52	6.17	3.47	0.39725	.	0.168298	0.52532	D	0.000061	T	0.14960	0.0361	N	0.11313	0.125	0.40792	D	0.983261	B	0.28760	0.221	B	0.29785	0.107	T	0.09684	-1.0663	10	0.13853	T	0.58	-21.6581	9.4632	0.38798	0.2932:0.0:0.7068:0.0	.	253	Q8N8Y2	VA0D2_HUMAN	L	253	ENSP00000285393:R253L	ENSP00000285393:R253L	R	+	2	0	ATP6V0D2	87231575	0.040000	0.19996	0.839000	0.33178	0.375000	0.29983	1.078000	0.30754	0.508000	0.28173	-0.119000	0.15052	CGG	.		0.468	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		T	87162459	G	T	87162459	3	4	26	1	0	0	0	0	1	0	0	0	1175	1116	39	2	780	2	ATP6V0D2	8	87162459	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	811306	87162459	59201563	62	4266											
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	110476496	110476496	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr8:110476496C>T	ENST00000378402.5	+	49	7539	c.7435C>T	c.(7435-7437)Cac>Tac	p.H2479Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2479					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)			AATACATTGGCACCTGCTTGG	0.428										HNSCC(38;0.096)																											p.H2479Y		.											.	.	.	0			c.C7435T						.						52	48	49					8																	110476496		1864	4121	5985	SO:0001583	missense	93035	exon49			CATTGGCACCTGC	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.7435C>T	8.37:g.110476496C>T	ENSP00000367655:p.His2479Tyr	82	0		75	24	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240811	0.79912	.	.	ENSG00000205038	ENST00000378402	D	0.93953	-3.32	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	M	0.90650	3.135	0.45704	D	0.998611	D	0.76494	0.999	D	0.87578	0.998	D	0.97887	1.0295	10	0.72032	D	0.01	.	16.9062	0.86128	0.0:1.0:0.0:0.0	.	2479	Q86WI1	PKHL1_HUMAN	Y	2479	ENSP00000367655:H2479Y	ENSP00000367655:H2479Y	H	+	1	0	PKHD1L1	110545672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.675000	0.74493	2.595000	0.87683	0.555000	0.69702	CAC	.		0.428	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110476496	C	T	110476496	3	4	26	1	0	0	0	0	1	0	0	0	12011	710	25	3	7629	3	PKHD1L1	8	110476496	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	23314037	110476496	35887526	63	4267											
GLIS3	169792	hgsc.bcm.edu;broad.mit.edu	37	9	4286060	4286060	+	Silent	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr9:4286060A>G	ENST00000381971.3	-	2	959	c.366T>C	c.(364-366)ccT>ccC	p.P122P		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)		TTGGAGGAAAAGGGCTTCCAA	0.473																																					p.P122P		.											.	.	.	0			c.T366C						.						90	91	91					9																	4286060		1908	4126	6034	SO:0001819	synonymous_variant	169792	exon2			AGGAAAAGGGCTT	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.366T>C	9.37:g.4286060A>G		85	0		65	4	NM_001042413	B1AL19|Q1PHK5	Silent	SNP	ENST00000381971.3	37	CCDS43784.1																																																																																			.		0.473	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		G	4286060	A	G	4286060	2	3	26	1	0	0	0	0	0	0	0	1	6473	59	3	4		4	GLIS3	9	4286060	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09		4286060	136927371	64	4268											
PSIP1	11168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	15468838	15468838	+	Silent	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr9:15468838G>T	ENST00000380733.4	-	14	1553	c.1210C>A	c.(1210-1212)Cgg>Agg	p.R404R	PSIP1_ENST00000380738.4_Silent_p.R404R			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	404					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGAATCGCCGTATCTGAGAA	0.303																																					p.R404R		.											PSIP1_ENST00000380733,NS,carcinoma,+1,2	PSIP1_ENST00000380733	+1	0			c.C1210A						.						71	69	70					9																	15468838		2203	4300	6503	SO:0001819	synonymous_variant	11168	exon14			ATCGCCGTATCTG	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1210C>A	9.37:g.15468838G>T		36	0		21	7	NM_001128217	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Silent	SNP	ENST00000380733.4	37	CCDS6479.1																																																																																			.		0.303	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		T	15468838	G	T	15468838	2	4	26	1	0	0	0	0	0	0	0	1	12705	1144	40	2		2	PSIP1	9	15468838	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	11182778	15468838	125744593	65	4269											
SIT1	27240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	35650620	35650620	+	Missense_Mutation	SNP	T	T	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr9:35650620T>C	ENST00000259608.3	-	2	201	c.115A>G	c.(115-117)Acc>Gcc	p.T39A	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	39					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGCCTGGGTTATGGAGGGG	0.647																																					p.T39A		.											.	.	.	0			c.A115G						.						44	50	48					9																	35650620		2203	4300	6503	SO:0001583	missense	27240	exon2			CCTGGGTTATGGA		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"SHP2 interacting transmembrane adaptor"	604964	"suppression inducing transmembrane adaptor 1"			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.115A>G	9.37:g.35650620T>C	ENSP00000259608:p.Thr39Ala	26	0		22	8	NM_014450	B2RBP9	Missense_Mutation	SNP	ENST00000259608.3	37	CCDS6582.1	.	.	.	.	.	.	.	.	.	.	T	1.505	-0.550968	0.03996	.	.	ENSG00000137078	ENST00000259608	.	.	.	4.48	0.00244	0.14050	.	1.740780	0.03617	N	0.235781	T	0.21468	0.0517	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18429	-1.0337	9	0.42905	T	0.14	-0.0339	3.6407	0.08166	0.0:0.2983:0.1996:0.5022	.	39	Q9Y3P8	SIT1_HUMAN	A	39	.	ENSP00000259608:T39A	T	-	1	0	SIT1	35640620	0.000000	0.05858	0.000000	0.03702	0.432000	0.31715	-1.806000	0.01735	0.017000	0.15025	0.482000	0.46254	ACC	.		0.647	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450		C	35650620	T	C	35650620	3	2	26	1	0	0	0	0	1	0	0	0	14389	1725	60	4	491	4	SIT1	9	35650620	Missense_Mutation	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09	20181782	35650620	105562811	66	4270											
FANCC	2176	hgsc.bcm.edu	37	9	98011555	98011555	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr9:98011555C>T	ENST00000289081.3	-	2	273	c.19G>A	c.(19-21)Gat>Aat	p.D7N	FANCC_ENST00000375305.1_Missense_Mutation_p.D7N	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	7					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)		p.D7Y(2)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAAGAAAGATCTACTGAATCT	0.458			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.D7N		.	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	FANCC_ENST00000289081,NS,carcinoma,0,1	FANCC_ENST00000289081	0	2	Substitution - Missense(2)	breast(2)	c.G19A						.						82	74	77					9																	98011555		2203	4300	6503	SO:0001583	missense	2176	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AAAGATCTACTGA	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.19G>A	9.37:g.98011555C>T	ENSP00000289081:p.Asp7Asn	33	0		34	2	NM_001243743	B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591108	0.46214	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.51071	0.72;0.72;0.72	5.13	0.972	0.19704	.	0.686516	0.14218	N	0.333605	T	0.32255	0.0823	L	0.34521	1.04	0.09310	N	1	B;B	0.15141	0.006;0.012	B;B	0.17433	0.018;0.012	T	0.21314	-1.0249	10	0.23891	T	0.37	-0.0894	7.7745	0.29029	0.0:0.4834:0.372:0.1446	.	7;7	B1ALR7;Q00597	.;FANCC_HUMAN	N	7	ENSP00000289081:D7N;ENSP00000364454:D7N;ENSP00000406908:D7N	ENSP00000289081:D7N	D	-	1	0	FANCC	97051376	0.001000	0.12720	0.013000	0.15412	0.971000	0.66376	0.956000	0.29202	0.080000	0.16959	-0.181000	0.13052	GAT	.		0.458	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		T	98011555	C	T	98011555	3	4	26	1	0	0	0	0	1	0	0	0	5686	913	32	3	1713	3	FANCC	9	98011555	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	62360935	98011555	43201876	67	4271											
COL15A1	1306	hgsc.bcm.edu	37	9	101801014	101801014	+	Splice_Site	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr9:101801014C>T	ENST00000375001.3	+	22	2897	c.2474C>T	c.(2473-2475)cCg>cTg	p.P825L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	825	Collagen-like 3.|Triple-helical region 4 (COL4).				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.P825L(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)				GTGGGGCCTCCGGTTGGTATC	0.468																																					p.P825L		.											COL15A1,NS,carcinoma,0,2	COL15A1	0	1	Substitution - Missense(1)	lung(1)	c.C2474T						.						160	154	156					9																	101801014		2203	4300	6503	SO:0001630	splice_region_variant	1306	exon22			GGCCTCCGGTTGG	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.2475+1C>T	9.37:g.101801014C>T		113	0		47	3	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125420	0.37533	.	.	ENSG00000204291	ENST00000375001	D	0.95980	-3.87	4.79	3.86	0.44501	.	0.330409	0.33834	N	0.004506	D	0.97102	0.9053	M	0.86805	2.84	0.58432	D	0.999999	D	0.76494	0.999	D	0.64776	0.929	D	0.95971	0.8970	10	0.30854	T	0.27	-5.2813	10.2053	0.43109	0.1986:0.8014:0.0:0.0	.	825	P39059	COFA1_HUMAN	L	825	ENSP00000364140:P825L	ENSP00000364140:P825L	P	+	2	0	COL15A1	100840835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.796000	0.38794	1.308000	0.44962	0.655000	0.94253	CCG	.		0.468	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Missense_Mutation	T	101801014	C	T	101801014	5	4	26	1	0	0	0	0	0	0	1	0	3679	666	23	1	2560	1	COL15A1	9	101801014	Splice_Site	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	3789459	101801014	39412417	68	4272											
GTPBP4	23560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	1052974	1052974	+	Missense_Mutation	SNP	T	T	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr10:1052974T>G	ENST00000360803.4	+	10	1101	c.1019T>G	c.(1018-1020)tTg>tGg	p.L340W	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.L224W|GTPBP4_ENST00000545048.1_Missense_Mutation_p.L293W	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	340	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GATAGGCTTTTGGCTCATCGA	0.483																																					p.L340W		.											.	.	.	0			c.T1019G						.						142	115	124					10																	1052974		2203	4300	6503	SO:0001583	missense	23560	exon10			GGCTTTTGGCTCA	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1019T>G	10.37:g.1052974T>G	ENSP00000354040:p.Leu340Trp	106	0		77	13	NM_012341	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000515	0.74818	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.39787	1.06;1.06;1.06	5.47	5.47	0.80525	.	0.065007	0.64402	D	0.000007	T	0.55146	0.1902	M	0.89534	3.04	0.80722	D	1	P	0.52842	0.956	B	0.42995	0.404	T	0.69537	-0.5119	10	0.87932	D	0	-8.4795	15.8823	0.79213	0.0:0.0:0.0:1.0	.	340	Q9BZE4	NOG1_HUMAN	W	340;224;293	ENSP00000354040:L340W;ENSP00000444277:L224W;ENSP00000445473:L293W	ENSP00000354040:L340W	L	+	2	0	GTPBP4	1042974	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.641000	0.83368	2.206000	0.71126	0.529000	0.55759	TTG	.		0.483	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		G	1052974	T	G	1052974	3	3	26	1	0	0	0	0	1	0	0	0	6909	1821	63	4	1057	4	GTPBP4	10	1052974	Missense_Mutation	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09		1052974	134481773	69	4273											
ITGA8	8516	hgsc.bcm.edu	37	10	15649776	15649776	+	Missense_Mutation	SNP	C	C	T	rs140395954		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr10:15649776C>T	ENST00000378076.3	-	17	2017	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	555					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|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)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.R555Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAAGAGCGTCCGTTTAATAGC	0.433																																					p.R555Q		.											ITGA8,rectum,carcinoma,0,1	ITGA8	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1664A						.	C	GLN/ARG	0,4406		0,0,2203	141	135	137		1664	5.8	0.3	10	dbSNP_134	137	1,8599		0,1,4299	no	missense	ITGA8	NM_003638.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	555/1064	15649776	1,13005	2203	4300	6503	SO:0001583	missense	8516	exon17			AGCGTCCGTTTAA	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1664G>A	10.37:g.15649776C>T	ENSP00000367316:p.Arg555Gln	43	0		39	2	NM_003638	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978062	0.74360	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.79940	-1.32	5.84	5.84	0.93424	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92533	0.6035	10	0.87932	D	0	.	20.1336	0.98010	0.0:1.0:0.0:0.0	.	540;555	F5H818;P53708	.;ITA8_HUMAN	Q	555;540	ENSP00000367316:R555Q	ENSP00000367316:R555Q	R	-	2	0	ITGA8	15689782	1.000000	0.71417	0.257000	0.24404	0.121000	0.20230	6.043000	0.71004	2.767000	0.95098	0.591000	0.81541	CGG	0.000		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		T	15649776	C	T	15649776	3	4	26	1	0	0	0	0	1	0	0	0	7909	652	23	1	1583	1	ITGA8	10	15649776	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	14596802	15649776	119884971	70	4274											
ZNF33A	7581	hgsc.bcm.edu;bcgsc.ca	37	10	38343567	38343567	+	Missense_Mutation	SNP	C	C	T	rs368265542		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr10:38343567C>T	ENST00000458705.2	+	5	670	c.512C>T	c.(511-513)gCc>gTc	p.A171V	ZNF33A_ENST00000432900.2_Missense_Mutation_p.A178V|ZNF33A_ENST00000307441.9_Missense_Mutation_p.A171V|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.A172V			Q06730	ZN33A_HUMAN	zinc finger protein 33A	171					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						GAATTTAATGCCTGTGGGAAA	0.328																																					p.A172V		.											.	.	.	0			c.C515T						.						64	65	65					10																	38343567		2203	4299	6502	SO:0001583	missense	7581	exon5			TTAATGCCTGTGG	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.512C>T	10.37:g.38343567C>T	ENSP00000387713:p.Ala171Val	102	0		92	4	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	5.308	0.242252	0.10077	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	2.26	1.14	0.20703	.	0.452341	0.16463	N	0.213312	T	0.10121	0.0248	N	0.03608	-0.345	0.21386	N	0.999709	B;B;B	0.32781	0.347;0.115;0.384	B;B;B	0.36378	0.223;0.031;0.066	T	0.34403	-0.9830	10	0.15952	T	0.53	.	7.5468	0.27772	0.2526:0.7474:0.0:0.0	.	178;171;172	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	V	172;178;171;171	ENSP00000363747:A172V;ENSP00000402467:A178V;ENSP00000387713:A171V;ENSP00000304268:A171V	ENSP00000304268:A171V	A	+	2	0	ZNF33A	38383573	0.000000	0.05858	0.996000	0.52242	0.518000	0.34316	-0.344000	0.07780	1.239000	0.43787	0.460000	0.39030	GCC	.		0.328	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		T	38343567	C	T	38343567	3	4	26	1	0	0	0	0	1	0	0	0	17902	739	26	3	529	3	ZNF33A	10	38343567	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	22693791	38343567	97191180	71	4275											
CCDC147	159686	broad.mit.edu	37	10	106118238	106118238	+	Missense_Mutation	SNP	T	T	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr10:106118238T>C	ENST00000369704.3	+	2	283	c.149T>C	c.(148-150)aTg>aCg	p.M50T	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		50						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)		CATGCTGTCATGAAAAAGTCT	0.408																																					p.M50T													.	CCDC147	137	0			c.T149C						.						69	66	67					10																	106118238		2203	4300	6503	SO:0001583	missense	159686	exon2			CTGTCATGAAAAA																												ENST00000369704.3:c.149T>C	10.37:g.106118238T>C	ENSP00000358718:p.Met50Thr	41	0		42	3	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282639	0.59867	.	.	ENSG00000120051	ENST00000369704	T	0.30182	1.54	5.57	5.57	0.84162	.	0.100673	0.64402	D	0.000001	T	0.32436	0.0829	L	0.40543	1.245	0.80722	D	1	B	0.23249	0.082	B	0.31869	0.137	T	0.11567	-1.0582	10	0.66056	D	0.02	-21.9443	16.0347	0.80617	0.0:0.0:0.0:1.0	.	50	Q5T655	CC147_HUMAN	T	50	ENSP00000358718:M50T	ENSP00000358718:M50T	M	+	2	0	CCDC147	106108228	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.997000	0.88414	2.248000	0.74166	0.533000	0.62120	ATG	.		0.408	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			C	106118238	T	C	106118238	3	2	26	1	0	0	0	0	1	0	0	0	2788	1464	51	4	155	4	CCDC147	10	106118238	Missense_Mutation	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09	67774671	106118238	29416509	72	4276											
CYB5R2	51700	ucsc.edu	37	11	7686607	7686607	+	Nonstop_Mutation	SNP	A	A	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr11:7686607A>T	ENST00000533558.1	-	9	1385	c.829T>A	c.(829-831)Taa>Aaa	p.*277K	CYB5R2_ENST00000524790.1_3'UTR|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Nonstop_Mutation_p.*277K			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	0					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)		TGGAGGTGTTAGTAGGTGAAA	0.493											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.X277K													.	CYB5R2	23	0			c.T829A						.						69	59	62					11																	7686607		2201	4296	6497	SO:0001578	stop_lost	51700	exon9			GGTGTTAGTAGGT	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.829T>A	11.37:g.7686607A>T		72	3	643	39	6	NM_016229	Q9BVA3|Q9UF68|Q9UHJ0	Nonstop_Mutation	SNP	ENST00000533558.1	37	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345382	0.82022	.	.	ENSG00000166394	ENST00000299498;ENST00000533558	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2838	0.66232	1.0:0.0:0.0:0.0	.	.	.	.	K	277	.	.	X	-	1	0	CYB5R2	7643183	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	8.916000	0.92745	2.264000	0.75181	0.533000	0.62120	TAA	.		0.493	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		T	7686607	A	T	7686607	4	4	26	1	0	0	0	0	0	0	0	0	4136	433	15	5	5	5	CYB5R2	11	7686607	Nonstop_Mutation	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09		7686607	127319909	73	4277											
QSER1	79832	hgsc.bcm.edu	37	11	32956871	32956871	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr11:32956871C>T	ENST00000399302.2	+	4	4015	c.3680C>T	c.(3679-3681)tCt>tTt	p.S1227F	QSER1_ENST00000527788.1_Missense_Mutation_p.S988F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1227								p.S1227C(1)		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)					GAACATTTATCTTCATTTTCT	0.363																																					p.S1227F		.											QSER1,bladder,carcinoma,0,1	QSER1	0	1	Substitution - Missense(1)	urinary_tract(1)	c.C3680T						.						143	144	144					11																	32956871		1827	4079	5906	SO:0001583	missense	79832	exon4			ATTTATCTTCATT	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.3680C>T	11.37:g.32956871C>T	ENSP00000382241:p.Ser1227Phe	93	0		46	2	NM_001076786	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.87|14.87	2.663729|2.663729	0.47572|0.47572	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.24723	.|2.17;1.84	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.082750	.|0.51477	.|D	.|0.000095	T|T	0.44912|0.44912	0.1316|0.1316	L|L	0.47716|0.47716	1.5|1.5	0.44380|0.44380	D|D	0.997282|0.997282	.|D;D;D	.|0.69078	.|0.986;0.997;0.976	.|P;D;P	.|0.63597	.|0.742;0.916;0.556	T|T	0.38308|0.38308	-0.9667|-0.9667	5|10	.|0.87932	.|D	.|0	.|.	18.9689|18.9689	0.92707|0.92707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|988;988;1227	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	F|F	248|1227;988;988	.|ENSP00000382241:S1227F;ENSP00000432766:S988F	.|ENSP00000078652:S988F	L|S	+|+	1|2	0|0	QSER1|QSER1	32913447|32913447	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.362000|0.362000	0.29581|0.29581	7.487000|7.487000	0.81328|0.81328	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	CTT|TCT	.		0.363	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32956871	C	T	32956871	3	4	26	1	0	0	0	0	1	0	0	0	12927	913	32	3	3686	3	QSER1	11	32956871	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	25270264	32956871	102049645	74	4278											
OR4X1	390113	hgsc.bcm.edu	37	11	48285986	48285986	+	Missense_Mutation	SNP	T	T	A	rs76457745		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr11:48285986T>A	ENST00000320048.1	+	1	574	c.574T>A	c.(574-576)Ttc>Atc	p.F192I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	192						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						AGACACCTTCTTCATTAGCCT	0.537																																					p.F192I		.											OR4X1,caecum,carcinoma,0,1	OR4X1	0	0			c.T574A						.						110	85	94					11																	48285986		2201	4298	6499	SO:0001583	missense	390113	exon1			ACCTTCTTCATTA	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.574T>A	11.37:g.48285986T>A	ENSP00000321506:p.Phe192Ile	26	0		23	3	NM_001004726	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	4.614	0.114104	0.08831	.	.	ENSG00000176567	ENST00000320048	T	0.00030	8.9	4.4	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01668	-0.77	0.22745	N	0.998789	B	0.25235	0.121	B	0.24394	0.053	T	0.00485	-1.1711	9	0.17369	T	0.5	.	3.9248	0.09259	0.1875:0.6133:0.0:0.1992	.	192	Q8NH49	OR4X1_HUMAN	I	192	ENSP00000321506:F192I	ENSP00000321506:F192I	F	+	1	0	OR4X1	48242562	0.000000	0.05858	0.999000	0.59377	0.059000	0.15707	-2.231000	0.01206	1.210000	0.43336	-0.318000	0.08688	TTC	.		0.537	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		A	48285986	T	A	48285986	3	1	26	1	0	0	0	0	1	0	0	0	11123	1609	56	5	576	5	OR4X1	11	48285986	Missense_Mutation	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09	15329115	48285986	86720530	75	4279											
OR5AN1	390195	bcgsc.ca	37	11	59132169	59132169	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr11:59132169C>T	ENST00000313940.2	+	1	285	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, 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(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCCACAGTCCCCAAGATGCT	0.413																																					p.P80S													.	OR5AN1	49	0			c.C238T						.						183	175	178					11																	59132169		2201	4295	6496	SO:0001583	missense	390195	exon1			ACAGTCCCCAAGA	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.238C>T	11.37:g.59132169C>T	ENSP00000320302:p.Pro80Ser	59	0		34	3	NM_001004729	B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461199	0.63513	.	.	ENSG00000176495	ENST00000313940	T	0.01854	4.6	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.21962	0.0529	H	0.96691	3.865	0.47407	D	0.999411	D	0.89917	1.0	D	0.87578	0.998	T	0.40040	-0.9584	10	0.87932	D	0	-28.4479	15.9406	0.79750	0.0:1.0:0.0:0.0	.	80	Q8NGI8	O5AN1_HUMAN	S	80	ENSP00000320302:P80S	ENSP00000320302:P80S	P	+	1	0	OR5AN1	58888745	1.000000	0.71417	0.665000	0.29768	0.359000	0.29487	7.313000	0.78978	2.150000	0.67090	0.655000	0.94253	CCC	.		0.413	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		T	59132169	C	T	59132169	3	4	26	1	0	0	0	0	1	0	0	0	11182	623	22	3	240	3	OR5AN1	11	59132169	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	10846183	59132169	75874347	76	4280											
ATM	472	broad.mit.edu	37	11	108151894	108151894	+	Splice_Site	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr11:108151894A>G	ENST00000452508.2	+	25	3764	c.3575A>G	c.(3574-3576)aAg>aGg	p.K1192R	ATM_ENST00000278616.4_Splice_Site_p.K1192R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1192					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)	CTTGTGAAAAAGGTATATATG	0.358			"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.K1192R			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM	1657	0			c.A3575G						.						87	88	88					11																	108151894		2201	4298	6499	SO:0001630	splice_region_variant	472	exon24	Familial Cancer Database	AT, Louis-Bar syndrome	TGAAAAAGGTATA	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.3576+1A>G	11.37:g.108151894A>G		134	0		98	4	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527743	0.85706	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.73152	-0.72;-0.72;-0.72	6.13	6.13	0.99165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80484	-0.1362	10	0.66056	D	0.02	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1192	Q13315	ATM_HUMAN	R	1192	ENSP00000435747:K1192R;ENSP00000278616:K1192R;ENSP00000388058:K1192R	ENSP00000278616:K1192R	K	+	2	0	ATM	107657104	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.365000	0.90108	2.367000	0.80283	0.529000	0.55759	AAG	.		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Missense_Mutation	G	108151894	A	G	108151894	5	3	26	1	0	0	0	0	0	0	1	0	1110	86	3	4	3665	4	ATM	11	108151894	Splice_Site	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	49019725	108151894	26854622	77	4281											
KDM5A	5927	bcgsc.ca	37	12	498247	498247	+	Missense_Mutation	SNP	A	A	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:498247A>C	ENST00000399788.2	-	1	373	c.11T>G	c.(10-12)gTg>gGg	p.V4G	KDM5A_ENST00000382815.4_Missense_Mutation_p.V4G|CCDC77_ENST00000422000.1_5'Flank|CCDC77_ENST00000540180.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	4					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						CCCCGGCCCCACGCCCGCCAT	0.682			T	NUP98	AML																																p.V4G				Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	.	KDM5A	307	0			c.T11G						.						8	9	9					12																	498247		1757	3971	5728	SO:0001583	missense	5927	exon1			GGCCCCACGCCCG		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.11T>G	12.37:g.498247A>C	ENSP00000382688:p.Val4Gly	136	9		103	33	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504977	0.26949	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760;ENST00000535014;ENST00000543507	D;D;D;T;D	0.85556	-2.0;-1.82;-1.58;-1.1;-1.68	4.8	-0.204	0.13200	.	0.799243	0.10869	N	0.625114	T	0.69151	0.3079	N	0.08118	0	0.44316	D	0.997191	B;B;B;B	0.20459	0.015;0.026;0.027;0.045	B;B;B;B	0.22601	0.018;0.025;0.018;0.04	T	0.57820	-0.7745	10	0.87932	D	0	-3.6326	7.0779	0.25215	0.5397:0.0:0.4603:0.0	.	4;4;4;4	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	G	4	ENSP00000382688:V4G;ENSP00000372265:V4G;ENSP00000440622:V4G;ENSP00000443854:V4G;ENSP00000444251:V4G	ENSP00000261253:V4G	V	-	2	0	KDM5A	368508	0.032000	0.19561	0.985000	0.45067	0.968000	0.65278	-0.025000	0.12413	0.046000	0.15833	0.402000	0.26972	GTG	.		0.682	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		C	498247	A	C	498247	3	2	26	1	0	0	0	0	1	0	0	0	8160	159	6	4	5173	4	KDM5A	12	498247	Missense_Mutation	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09		498247	133353648	78	4282	43	2									
KDM5A	5927	bcgsc.ca	37	12	498253	498253	+	Missense_Mutation	SNP	G	G	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:498253G>C	ENST00000399788.2	-	1	367	c.5C>G	c.(4-6)gCg>gGg	p.A2G	KDM5A_ENST00000382815.4_Missense_Mutation_p.A2G|CCDC77_ENST00000422000.1_5'Flank|CCDC77_ENST00000540180.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	2					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						CCCCACGCCCGCCATTGCAAC	0.682			T	NUP98	AML																																p.A2G				Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	.	KDM5A	307	0			c.C5G						.						7	8	8					12																	498253		1427	3426	4853	SO:0001583	missense	5927	exon1			ACGCCCGCCATTG		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.5C>G	12.37:g.498253G>C	ENSP00000382688:p.Ala2Gly	118	7		87	27	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727637	0.89390	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760;ENST00000535014;ENST00000543507	D;D;D;T;D	0.85258	-1.96;-1.78;-1.67;-1.17;-1.73	4.8	3.91	0.45181	.	0.080637	0.49305	D	0.000155	T	0.74045	0.3665	N	0.14661	0.345	0.35888	D	0.829473	B;B;B;B	0.22683	0.069;0.073;0.043;0.073	B;B;B;B	0.24974	0.057;0.045;0.02;0.045	T	0.76005	-0.3117	10	0.87932	D	0	-12.3229	11.3486	0.49575	0.0844:0.0:0.9156:0.0	.	2;2;2;2	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	G	2	ENSP00000382688:A2G;ENSP00000372265:A2G;ENSP00000440622:A2G;ENSP00000443854:A2G;ENSP00000444251:A2G	ENSP00000261253:A2G	A	-	2	0	KDM5A	368514	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.981000	0.63819	1.240000	0.43803	0.491000	0.48974	GCG	.		0.682	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		C	498253	G	C	498253	3	2	26	1	0	0	0	0	1	0	0	0	8160	1087	38	5	5179	5	KDM5A	12	498253	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	6	498253	133353642	79	4283	43	2									
CACNA2D4	93589	hgsc.bcm.edu	37	12	1987537	1987537	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:1987537C>T	ENST00000382722.5	-	16	2025	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A491T|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A491T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A555T|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A440T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	555	Cache.				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)		TTCAGAAAGGCGTATCCGTGC	0.577																																					p.A555T	Colon(2;101 179 21030 23310 28141)	.											CACNA2D4_ENST00000382722,rectum,carcinoma,0,2	CACNA2D4_ENST00000382722	0	0			c.G1663A						.						65	71	69					12																	1987537		2078	4198	6276	SO:0001583	missense	93589	exon16			GAAAGGCGTATCC	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.1663G>A	12.37:g.1987537C>T	ENSP00000372169:p.Ala555Thr	84	0		65	4	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458685	0.96240	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09630	2.96	5.6	5.6	0.85130	Cache (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.97110	0.889;1.0	T	0.16928	-1.0386	10	0.66056	D	0.02	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	555;555	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	491;555;555	ENSP00000372169:A555T	ENSP00000280663:A555T	A	-	1	0	CACNA2D4	1857798	1.000000	0.71417	0.991000	0.47740	0.883000	0.51084	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	GCC	.		0.577	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			T	1987537	C	T	1987537	3	4	26	1	0	0	0	0	1	0	0	0	2558	768	27	1	1842	1	CACNA2D4	12	1987537	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	1489284	1987537	131864358	80	4284											
AICDA	57379	bcgsc.ca	37	12	8757981	8757981	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:8757981G>T	ENST00000229335.6	-	3	360	c.257C>A	c.(256-258)cCc>cAc	p.P86H	AICDA_ENST00000537228.1_Missense_Mutation_p.P86H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	86					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCGTAGCAGGGGCTCCAGGA	0.622																																					p.P86H	GBM(62;896 1067 5527 26594 30137)												.	AICDA	37	0			c.C257A						.						45	50	48					12																	8757981		2119	4239	6358	SO:0001583	missense	57379	exon3			TAGCAGGGGCTCC	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.257C>A	12.37:g.8757981G>T	ENSP00000229335:p.Pro86His	53	0		57	4	NM_020661	Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.732742|4.732742	0.89482|0.89482	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000229335;ENST00000537228|ENST00000543081;ENST00000545512	D;D|D;D	0.97888|0.97888	-4.59;-4.59|-4.59;-4.59	5.32|5.32	5.32|5.32	0.75619|0.75619	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99001|0.99001	0.9659|0.9659	M|M	0.93062|0.93062	3.375|3.375	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|.	D|D	0.99651|0.99651	1.0991|1.0991	10|8	0.87932|0.87932	D|D	0|0	-32.238|-32.238	17.5616|17.5616	0.87909|0.87909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	86;86;86|.	Q9GZX7;Q6QJ80;Q6QJ81|.	AICDA_HUMAN;.;.|.	H|T	86|85	ENSP00000229335:P86H;ENSP00000445691:P86H|ENSP00000439103:P85T;ENSP00000443060:P85T	ENSP00000229335:P86H|ENSP00000439103:P85T	P|P	-|-	2|1	0|0	AICDA|AICDA	8649248|8649248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.178000|9.178000	0.94855|0.94855	2.485000|2.485000	0.83878|0.83878	0.462000|0.462000	0.41574|0.41574	CCC|CCT	.		0.622	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		T	8757981	G	T	8757981	3	4	26	1	0	0	0	0	1	0	0	0	422	1232	43	3	351	3	AICDA	12	8757981	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	6770444	8757981	125093914	81	4285											
LRP6	4040	broad.mit.edu	37	12	12300324	12300324	+	Silent	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:12300324G>T	ENST00000261349.4	-	15	3449	c.3373C>A	c.(3373-3375)Cga>Aga	p.R1125R	LRP6_ENST00000543091.1_Silent_p.R1125R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1125	Beta-propeller 4.				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)				CTTTCAATTCGCCGGAGATCT	0.403																																					p.R1125R													.	LRP6	170	0			c.C3373A						.						91	92	91					12																	12300324		2203	4300	6503	SO:0001819	synonymous_variant	4040	exon15			CAATTCGCCGGAG	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.3373C>A	12.37:g.12300324G>T		111	0		91	3	NM_002336	Q17RZ2	Silent	SNP	ENST00000261349.4	37	CCDS8647.1																																																																																			.		0.403	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12300324	G	T	12300324	2	4	26	1	0	0	0	0	0	0	0	1	8997	1095	38	2		2	LRP6	12	12300324	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	3542343	12300324	121551571	82	4286											
FGD4	121512	bcgsc.ca	37	12	32786595	32786599	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-	rs139663812		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	AAGAA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:32786595_32786599delAAGAA	ENST00000427716.2	+	15	2298_2302	c.1874_1878delAAGAA	c.(1873-1878)gaagaafs	p.EE625fs	FGD4_ENST00000531134.1_Frame_Shift_Del_p.EE710fs|FGD4_ENST00000266482.3_Frame_Shift_Del_p.EE377fs|FGD4_ENST00000525053.1_Frame_Shift_Del_p.EE737fs|FGD4_ENST00000546442.1_Frame_Shift_Del_p.EE532fs|FGD4_ENST00000534526.2_Frame_Shift_Del_p.EE762fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	625					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)					ACAGACAGTGAAGAAAAGAAAAGAA	0.341																																					p.625_626del													.	FGD4	86	0			c.1874_1878del						.																																			SO:0001589	frameshift_variant	121512	exon15			ACAGTGAAGAAAA	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.1874_1878delAAGAA	12.37:g.32786605_32786609delAAGAA	ENSP00000394487:p.Glu625fs	199	0		185	4	NM_139241	Q6ULS2|Q8TCP6	Frame_Shift_Del	DEL	ENST00000427716.2	37	CCDS8727.1																																																																																			.		0.341	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		-	32786599	AAGAA	-	32786595	7	5	26	1	0	1	0	1	0	0	0	0	5857	246	9	0	1924	0	FGD4	12	32786595	Frame_Shift_Del	DEL	AAGAA	TCGA-WD-A7RX-01A-12D-A417-09	20486271	32786595	101065300	83	4287											
MYO1H	283446	hgsc.bcm.edu;bcgsc.ca	37	12	109877582	109877582	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:109877582G>T	ENST00000431443.2	+	23	2423	c.2423G>T	c.(2422-2424)gGc>gTc	p.G808V	MYO1H_ENST00000310903.5_Missense_Mutation_p.G798V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	808						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						AGGCCTCCTGGCATCTTGGAA	0.473																																					p.G798V		.											.	.	.	0			c.G2393T						.						55	54	54					12																	109877582		1971	4164	6135	SO:0001583	missense	283446	exon23			CTCCTGGCATCTT		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.2423G>T	12.37:g.109877582G>T	ENSP00000444076:p.Gly808Val	86	0		55	4	NM_001101421	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	G	1.214	-0.628759	0.03610	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87256	-2.21;-2.23	5.43	2.54	0.30619	.	.	.	.	.	T	0.72137	0.3423	N	0.17082	0.46	0.30197	N	0.798946	B	0.18461	0.028	B	0.16289	0.015	T	0.60105	-0.7328	9	0.16896	T	0.51	.	3.9811	0.09495	0.0937:0.3859:0.3861:0.1343	.	798	F5H3C6	.	V	798;808	ENSP00000439182:G798V;ENSP00000444076:G808V	ENSP00000439182:G798V	G	+	2	0	MYO1H	108361965	0.991000	0.36638	0.214000	0.23707	0.104000	0.19210	2.094000	0.41719	0.661000	0.30985	-0.136000	0.14681	GGC	.		0.473	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		T	109877582	G	T	109877582	3	4	26	1	0	0	0	0	1	0	0	0	10113	1203	42	3	2483	3	MYO1H	12	109877582	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	77090987	109877582	23974313	84	4288											
MED13L	23389	hgsc.bcm.edu	37	12	116413011	116413011	+	Missense_Mutation	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:116413011C>A	ENST00000281928.3	-	25	5902	c.5696G>T	c.(5695-5697)gGg>gTg	p.G1899V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1899						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.G1899V(1)		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)		CCCAAGTCGCCCGATTACAAC	0.443																																					p.G1899V		.											MED13L,right_upper_lobe,carcinoma,0,2	MED13L	0	1	Substitution - Missense(1)	lung(1)	c.G5696T						.						74	71	72					12																	116413011		2203	4300	6503	SO:0001583	missense	23389	exon25			AGTCGCCCGATTA	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.5696G>T	12.37:g.116413011C>A	ENSP00000281928:p.Gly1899Val	44	0		24	2	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096359	0.94197	.	.	ENSG00000123066	ENST00000281928	D	0.83506	-1.73	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.92681	0.7674	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92091	0.5680	10	0.51188	T	0.08	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1899	Q71F56	MD13L_HUMAN	V	1899	ENSP00000281928:G1899V	ENSP00000281928:G1899V	G	-	2	0	MED13L	114897394	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.438000	0.80431	2.894000	0.99253	0.591000	0.81541	GGG	.		0.443	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			A	116413011	C	A	116413011	3	1	26	1	0	0	0	0	1	0	0	0	9469	623	22	3	964	3	MED13L	12	116413011	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	6535429	116413011	17438884	85	4289											
GCN1L1	10985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	120582444	120582444	+	Splice_Site	SNP	T	T	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:120582444T>C	ENST00000300648.6	-	41	5363	c.5351A>G	c.(5350-5352)aAa>aGa	p.K1784R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1784					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)					GGTACCTACTTTGAGGATACA	0.522																																					p.K1784R		.											.	.	.	0			c.A5351G						.						100	100	100					12																	120582444		1986	4163	6149	SO:0001630	splice_region_variant	10985	exon41			CCTACTTTGAGGA	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.5352+1A>G	12.37:g.120582444T>C		79	0		43	15	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356438	0.82243	.	.	ENSG00000089154	ENST00000300648	T	0.65178	-0.14	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.71581	2.175	0.80722	D	1	P	0.52316	0.952	P	0.55871	0.786	T	0.76531	-0.2925	10	0.56958	D	0.05	-12.7613	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1784	Q92616	GCN1L_HUMAN	R	1784	ENSP00000300648:K1784R	ENSP00000300648:K1784R	K	-	2	0	GCN1L1	119066827	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.675000	0.84002	2.371000	0.80710	0.533000	0.62120	AAA	.		0.522	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Missense_Mutation	C	120582444	T	C	120582444	5	2	26	1	0	0	0	0	0	0	1	0	6324	1855	64	4	2736	4	GCN1L1	12	120582444	Splice_Site	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09	4169433	120582444	13269451	86	4290											
EP400	57634	hgsc.bcm.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAGCAGCAGCAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr12:132547093_132547094insCAGCAGCAGCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAGCAGCAGCAG	c.(8290-8292)cag>CAGCAGCAGCAGcag	p.2764_2764Q>QQQQQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQQQQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQQQQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQQQQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQQQQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	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.Q2726Q(9)		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)		agcagcaacaacagcagcagca	0.564																																					p.Q2727delinsQQQQQ		.											EP400,NS,carcinoma,0,15	EP400	0	9	Substitution - coding silent(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	c.8181_8182insCAGCAGCAGCAG						.																																			SO:0001652	inframe_insertion	57634	exon47			GCAACAACAGCAG	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.8314_8325dupCAGCAGCAGCAG	12.37:g.132547093_132547094insCAGCAGCAGCAG	ENSP00000333602:p.GlnGlnGlnGln2784dup	41	0		41	0	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37																																																																																				.		0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		CAGCAGCAGCAG	132547094	-	CAGCAGCAGCAG	132547093	7	5	26	1	0	1	1	0	0	0	0	0	5165	40	2	0	8360	0	EP400	12	132547093	In_Frame_Ins	INS	-	TCGA-WD-A7RX-01A-12D-A417-09	11964649	132547093	1304802	87	4291											
LCP1	3936	hgsc.bcm.edu	37	13	46732997	46732997	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr13:46732997G>T	ENST00000398576.2	-	6	580	c.192C>A	c.(190-192)gaC>gaA	p.D64E	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.D64E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	64	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)	p.D64D(1)		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)		TTCCATCTTGGTCCAGATCAC	0.403			T	BCL6	NHL																																p.D64E		.		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	LCP1,NS,carcinoma,0,1	LCP1	0	1	Substitution - coding silent(1)	prostate(1)	c.C192A						.						214	199	204					13																	46732997		2203	4300	6503	SO:0001583	missense	3936	exon3			ATCTTGGTCCAGA	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.192C>A	13.37:g.46732997G>T	ENSP00000381581:p.Asp64Glu	63	0		34	2	NM_002298	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483937	0.63962	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.76	5.76	0.90799	EF-hand-like domain (1);	0.106971	0.64402	D	0.000011	T	0.68284	0.2984	L	0.33339	1.005	0.80722	D	1	B	0.14805	0.011	B	0.23419	0.046	T	0.62253	-0.6893	10	0.46703	T	0.11	-27.6526	17.8133	0.88623	0.0:0.0:1.0:0.0	.	64	P13796	PLSL_HUMAN	E	64	ENSP00000315757:D64E;ENSP00000381581:D64E;ENSP00000408052:D64E;ENSP00000402157:D64E	ENSP00000315757:D64E	D	-	3	2	LCP1	45630998	1.000000	0.71417	0.986000	0.45419	0.962000	0.63368	4.082000	0.57635	2.882000	0.98803	0.655000	0.94253	GAC	.		0.403	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		T	46732997	G	T	46732997	3	4	26	1	0	0	0	0	1	0	0	0	8719	1252	44	3	1747	3	LCP1	13	46732997	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		46732997	68436881	88	4292											
KPNA3	3839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	50275983	50275983	+	Missense_Mutation	SNP	T	T	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr13:50275983T>C	ENST00000261667.3	-	17	1933	c.1519A>G	c.(1519-1521)Aat>Gat	p.N507D		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	507					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GGATCAAAATTGTAGGTACCT	0.348																																					p.N507D		.											.	.	.	0			c.A1519G						.						164	181	175					13																	50275983		2203	4300	6503	SO:0001583	missense	3839	exon17			CAAAATTGTAGGT	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1519A>G	13.37:g.50275983T>C	ENSP00000261667:p.Asn507Asp	83	0		43	13	NM_002267	O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050076	0.36181	.	.	ENSG00000102753	ENST00000261667	T	0.29142	1.58	6.17	6.17	0.99709	.	0.041287	0.85682	D	0.000000	T	0.17450	0.0419	N	0.12746	0.255	0.58432	D	0.999998	B	0.06786	0.001	B	0.14023	0.01	T	0.15350	-1.0440	10	0.12766	T	0.61	-15.9695	12.6398	0.56702	0.0:0.0:0.1377:0.8623	.	507	O00505	IMA3_HUMAN	D	507	ENSP00000261667:N507D	ENSP00000261667:N507D	N	-	1	0	KPNA3	49173984	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.988000	0.56951	2.371000	0.80710	0.533000	0.62120	AAT	.		0.348	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		C	50275983	T	C	50275983	3	2	26	1	0	0	0	0	1	0	0	0	8458	1812	63	4	50	4	KPNA3	13	50275983	Missense_Mutation	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09	3542986	50275983	64893895	89	4293											
NEK3	4752	bcgsc.ca	37	13	52726745	52726745	+	Splice_Site	SNP	T	T	A	rs373174576		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr13:52726745T>A	ENST00000400357.2	-	4	1685	c.392A>T	c.(391-393)aAg>aTg	p.K131M	NEK3_ENST00000339406.3_Splice_Site_p.K131M|NEK3_ENST00000378101.2_Splice_Site_p.K131M|NEK3_ENST00000452082.2_Splice_Site_p.K152M			P51956	NEK3_HUMAN	NIMA-related kinase 3	131	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCCACTCACCTTGGACTTGAT	0.343																																					p.K131M													.	NEK3	41	0			c.A392T						.						142	127	132					13																	52726745		1828	4094	5922	SO:0001630	splice_region_variant	4752	exon5			CTCACCTTGGACT	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.393+1A>T	13.37:g.52726745T>A		48	0		31	4	NM_002498	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.788520	0.90367	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.50813	1.81;1.81;1.81;1.81;0.73	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046274	0.85682	D	0.000000	T	0.70185	0.3195	.	.	.	0.58432	D	0.999992	P;D;D	0.89917	0.888;1.0;1.0	P;D;D	0.97110	0.823;1.0;1.0	T	0.72421	-0.4299	9	0.52906	T	0.07	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	131;152;125	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	M	131;131;131;152;125	ENSP00000339429:K131M;ENSP00000367341:K131M;ENSP00000383210:K131M;ENSP00000404197:K152M;ENSP00000448716:K125M	ENSP00000448782:K131M	K	-	2	0	NEK3	51624746	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.381000	0.79718	2.263000	0.75096	0.533000	0.62120	AAG	.		0.343	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		Missense_Mutation	A	52726745	T	A	52726745	5	1	26	1	0	0	0	0	0	0	1	0	10364	1623	56	5	1176	5	NEK3	13	52726745	Splice_Site	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09	2450762	52726745	62443133	90	4294											
RALGAPA1	253959	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	36192384	36192384	+	Silent	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr14:36192384C>T	ENST00000389698.3	-	15	2343	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	RALGAPA1_ENST00000307138.6_Silent_p.S651S|RALGAPA1_ENST00000382366.3_Silent_p.S651S|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Silent_p.S651S	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	651					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						AATAGGTCAGCGATGACAATA	0.393																																					p.S651S		.											.	.	.	0			c.G1953A						.						80	72	75					14																	36192384		2203	4300	6503	SO:0001819	synonymous_variant	253959	exon15			GGTCAGCGATGAC	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.1953G>A	14.37:g.36192384C>T		169	0		123	7	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	CCDS32065.1																																																																																			.		0.393	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		T	36192384	C	T	36192384	2	4	26	1	0	0	0	0	0	0	0	1	13058	755	27	1		1	RALGAPA1	14	36192384	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		36192384	71157156	91	4295											
NID2	22795	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	52520801	52520801	+	Silent	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr14:52520801A>G	ENST00000216286.5	-	4	1005	c.1006T>C	c.(1006-1008)Ttg>Ctg	p.L336L	NID2_ENST00000541773.1_Silent_p.L283L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	336					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)					TGGCCATTCAATGCCTCCTCT	0.473																																					p.L336L		.											.	.	.	0			c.T1006C						.						102	96	98					14																	52520801		2203	4300	6503	SO:0001819	synonymous_variant	22795	exon4			CATTCAATGCCTC	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.1006T>C	14.37:g.52520801A>G		94	0		61	5	NM_007361	A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	CCDS9706.1																																																																																			.		0.473	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			G	52520801	A	G	52520801	2	3	26	1	0	0	0	0	0	0	0	1	10454	98	4	4		4	NID2	14	52520801	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	16328417	52520801	54828739	92	4296											
C14orf178	283579	hgsc.bcm.edu	37	14	78236011	78236011	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr14:78236011C>T	ENST00000355883.3	+	3	568	c.359C>T	c.(358-360)gCc>gTc	p.A120V	C14orf178_ENST00000556047.1_3'UTR|C14orf178_ENST00000557011.1_3'UTR|C14orf178_ENST00000439131.2_Missense_Mutation_p.A90V	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	120										large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		tgtgaggatgccatggggtaa	0.403																																					p.A120V		.											C14orf178,colon,carcinoma,-1,1	C14orf178	-1	0			c.C359T						.						79	67	71					14																	78236011		2203	4300	6503	SO:0001583	missense	283579	exon3			AGGATGCCATGGG	AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.359C>T	14.37:g.78236011C>T	ENSP00000348145:p.Ala120Val	85	0		44	2	NM_174943	Q2HIX2|Q3KNR7	Missense_Mutation	SNP	ENST00000355883.3	37	CCDS9868.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950346	0.34377	.	.	ENSG00000197734	ENST00000439131;ENST00000355883	T;T	0.56444	0.46;1.06	2.14	-4.29	0.03721	.	.	.	.	.	T	0.25382	0.0617	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.20767	0.031	T	0.11743	-1.0575	9	0.87932	D	0	.	2.1715	0.03850	0.1937:0.4339:0.2346:0.1378	.	120	Q8N769	CN178_HUMAN	V	90;120	ENSP00000407405:A90V;ENSP00000348145:A120V	ENSP00000348145:A120V	A	+	2	0	C14orf178	77305764	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.782000	0.04643	-2.314000	0.00647	-0.558000	0.04189	GCC	.		0.403	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413920.1	NM_174943		T	78236011	C	T	78236011	3	4	26	1	0	0	0	0	1	0	0	0	1766	739	26	3	369	3	C14orf178	14	78236011	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	25715210	78236011	29113529	93	4297											
FOXN3	1112	bcgsc.ca	37	14	89629228	89629228	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr14:89629228G>T	ENST00000345097.4	-	7	1119	c.1003C>A	c.(1003-1005)Cac>Aac	p.H335N	FOXN3_ENST00000555353.1_Missense_Mutation_p.H313N|FOXN3_ENST00000261302.5_Missense_Mutation_p.H335N|FOXN3_ENST00000557258.1_Missense_Mutation_p.H313N	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	335					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)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTAGTTGTGATCCTCCTTG	0.617																																					p.H335N													.	FOXN3	78	0			c.C1003A						.						35	25	29					14																	89629228		2169	4262	6431	SO:0001583	missense	1112	exon7			AGTTGTGATCCTC		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.1003C>A	14.37:g.89629228G>T	ENSP00000343288:p.His335Asn	42	0		34	5	NM_001085471	Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192436	0.78902	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.909;0.991	T	0.78831	-0.2049	10	0.62326	D	0.03	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	335;313	O00409;O00409-2	FOXN3_HUMAN;.	N	335;335;313;313	ENSP00000343288:H335N;ENSP00000261302:H335N;ENSP00000452005:H313N;ENSP00000452227:H313N	ENSP00000261302:H335N	H	-	1	0	FOXN3	88698981	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	9.828000	0.99408	2.824000	0.97209	0.655000	0.94253	CAC	.		0.617	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		T	89629228	G	T	89629228	3	4	26	1	0	0	0	0	1	0	0	0	6045	1290	45	3	473	3	FOXN3	14	89629228	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	11393217	89629228	17720312	94	4298											
KIAA1409	57578	hgsc.bcm.edu	37	14	94088062	94088062	+	Missense_Mutation	SNP	C	C	T	rs267604102		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr14:94088062C>T	ENST00000393151.2	+	30	4483	c.4483C>T	c.(4483-4485)Cgc>Tgc	p.R1495C	UNC79_ENST00000553484.1_Missense_Mutation_p.R1517C|UNC79_ENST00000256339.4_Missense_Mutation_p.R1318C|UNC79_ENST00000555664.1_Missense_Mutation_p.R1495C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1495					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						AAAAAAGCTACGCTCTTTCAA	0.413																																					p.R1318C		.											UNC79,colon,carcinoma,0,2	UNC79	0	0			c.C3952T						.						77	76	76					14																	94088062		2203	4300	6503	SO:0001583	missense	57578	exon30			AAGCTACGCTCTT	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.4483C>T	14.37:g.94088062C>T	ENSP00000376858:p.Arg1495Cys	106	0		44	2	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.297500	0.81025	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21543	2.03;2.0;2.03;2.03	5.98	5.98	0.97165	.	0.054193	0.85682	D	0.000000	T	0.33673	0.0871	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	T	0.02991	-1.1085	10	0.87932	D	0	-19.3587	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1517	C9JQL1	.	C	1318;1495;1517;1495;1517	ENSP00000256339:R1318C;ENSP00000450868:R1495C;ENSP00000451360:R1517C;ENSP00000376858:R1495C	ENSP00000256339:R1318C	R	+	1	0	KIAA1409	93157815	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.847000	0.97988	0.591000	0.81541	CGC	.		0.413	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94088062	C	T	94088062	3	4	26	1	0	0	0	0	1	0	0	0	8257	536	19	1	4058	1	KIAA1409	14	94088062	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	4458834	94088062	13261478	95	4299											
TYRO3	7301	hgsc.bcm.edu	37	15	41862869	41862869	+	Missense_Mutation	SNP	G	G	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr15:41862869G>C	ENST00000263798.3	+	12	1775	c.1551G>C	c.(1549-1551)caG>caC	p.Q517H	TYRO3_ENST00000559066.1_Missense_Mutation_p.Q472H	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	517					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)		CAGAGCAGCAGTTCACCCTGG	0.547																																					p.Q517H		.											TYRO3_ENST00000263798,lower_third,carcinoma,0,2	TYRO3_ENST00000263798	0	0			c.G1551C						.						85	82	83					15																	41862869		2203	4300	6503	SO:0001583	missense	7301	exon12			GCAGCAGTTCACC	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.1551G>C	15.37:g.41862869G>C	ENSP00000263798:p.Gln517His	56	0		48	2	NM_006293	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625285	0.66901	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.62232	0.04	5.17	3.27	0.37495	Protein kinase-like domain (1);	0.000000	0.36778	N	0.002402	T	0.59224	0.2178	L	0.36672	1.1	0.44352	D	0.997241	P	0.51351	0.944	P	0.50490	0.642	T	0.61959	-0.6955	10	0.52906	T	0.07	-21.4534	11.836	0.52323	0.1443:0.0:0.8557:0.0	.	517	Q06418	TYRO3_HUMAN	H	449;517	ENSP00000263798:Q517H	ENSP00000263798:Q517H	Q	+	3	2	TYRO3	39650161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.695000	0.37763	1.412000	0.46977	0.563000	0.77884	CAG	.		0.547	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			C	41862869	G	C	41862869	3	2	26	1	0	0	0	0	1	0	0	0	16863	1020	36	5	1597	5	TYRO3	15	41862869	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		41862869	60668523	96	4300											
SEMA6D	80031	hgsc.bcm.edu	37	15	48055275	48055275	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr15:48055275G>A	ENST00000316364.5	+	9	1160	c.721G>A	c.(721-723)Gct>Act	p.A241T	SEMA6D_ENST00000358066.4_Missense_Mutation_p.A241T|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A241T|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A241T|SEMA6D_ENST00000389425.3_Missense_Mutation_p.A241T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A241T|SEMA6D_ENST00000355997.3_Missense_Mutation_p.A241T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A241T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A241T|SEMA6D_ENST00000558816.1_Missense_Mutation_p.A241T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A241T|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A241T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	241	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.A241T(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)		TCGAGAAATCGCTGTCGAACA	0.358																																					p.A241T		.											SEMA6D,rectum,carcinoma,0,1	SEMA6D	0	1	Substitution - Missense(1)	large_intestine(1)	c.G721A						.						86	82	83					15																	48055275		2198	4296	6494	SO:0001583	missense	80031	exon9			GAAATCGCTGTCG	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.721G>A	15.37:g.48055275G>A	ENSP00000324857:p.Ala241Thr	52	0		41	2	NM_153617	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466457	0.96257	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;0.999;1.0;1.0	D;P;D;D;D	0.91635	0.961;0.885;0.961;0.999;0.961	T	0.50906	-0.8772	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	241;241;241;241;241	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	T	241	ENSP00000442040:A241T;ENSP00000446152:A241T;ENSP00000324857:A241T;ENSP00000374084:A241T;ENSP00000374083:A241T;ENSP00000346786:A241T;ENSP00000350770:A241T;ENSP00000374079:A241T;ENSP00000348276:A241T;ENSP00000374076:A241T	ENSP00000324857:A241T	A	+	1	0	SEMA6D	45842567	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	GCT	.		0.358	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48055275	G	A	48055275	3	1	26	1	0	0	0	0	1	0	0	0	14087	1087	38	1	751	1	SEMA6D	15	48055275	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	6192406	48055275	54476117	97	4301											
HDC	3067	broad.mit.edu	37	15	50550626	50550626	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr15:50550626G>A	ENST00000267845.3	-	3	695	c.293C>T	c.(292-294)gCc>gTc	p.A98V	HDC_ENST00000543581.1_Missense_Mutation_p.A98V	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)		GCAGTTGATGGCATCAGCCAG	0.562																																					p.A98V	GBM(95;1627 1936 6910 9570)												.	HDC	86	0			c.C293T						.						90	76	81					15																	50550626		2196	4295	6491	SO:0001583	missense	3067	exon3			TTGATGGCATCAG		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.293C>T	15.37:g.50550626G>A	ENSP00000267845:p.Ala98Val	56	0		49	3	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115974	0.94339	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.41758	0.99;0.99	5.48	5.48	0.80851	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056439	0.64402	D	0.000001	T	0.70448	0.3225	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.75274	-0.3375	10	0.87932	D	0	-22.3877	19.3432	0.94352	0.0:0.0:1.0:0.0	.	98;98	B7ZM01;P19113	.;DCHS_HUMAN	V	98	ENSP00000267845:A98V;ENSP00000440252:A98V	ENSP00000267845:A98V	A	-	2	0	HDC	48337918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.911000	0.87458	2.577000	0.86979	0.462000	0.41574	GCC	.		0.562	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			A	50550626	G	A	50550626	3	1	26	1	0	0	0	0	1	0	0	0	7042	1203	42	3	1735	3	HDC	15	50550626	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	2495351	50550626	51980766	98	4302											
LIPC	3990	bcgsc.ca	37	15	58834114	58834114	+	Missense_Mutation	SNP	G	G	A	rs372054789		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr15:58834114G>A	ENST00000356113.6	+	5	1019	c.404G>A	c.(403-405)cGc>cAc	p.R135H	LIPC_ENST00000414170.3_Missense_Mutation_p.R135H|LIPC_ENST00000299022.5_Missense_Mutation_p.R135H|LIPC_ENST00000433326.2_Intron			P11150	LIPC_HUMAN	lipase, hepatic	135					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)		ATCGCCGTCCGCAACACCCGC	0.657																																					p.R135H													.	LIPC	56	0			c.G404A						.	G	HIS/ARG	1,4383	2.1+/-5.4	0,1,2191	52	41	45		404	2.6	0.9	15		45	0,8584		0,0,4292	no	missense	LIPC	NM_000236.2	29	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	benign	135/500	58834114	1,12967	2192	4292	6484	SO:0001583	missense	3990	exon3			CCGTCCGCAACAC		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.404G>A	15.37:g.58834114G>A	ENSP00000348425:p.Arg135His	68	0		54	4	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695860	0.30052	2.28E-4	0.0	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.91011	-2.77;-2.77;-2.77	4.53	2.61	0.31194	Lipase, N-terminal (1);	0.282367	0.35970	N	0.002871	T	0.81987	0.4939	L	0.33668	1.02	0.80722	D	1	B	0.31581	0.329	B	0.28916	0.096	T	0.73672	-0.3909	10	0.35671	T	0.21	.	6.1446	0.20278	0.4404:0.0:0.5596:0.0	.	135	P11150	LIPC_HUMAN	H	135	ENSP00000348425:R135H;ENSP00000395569:R135H;ENSP00000299022:R135H	ENSP00000299022:R135H	R	+	2	0	LIPC	56621406	0.933000	0.31639	0.917000	0.36280	0.293000	0.27360	1.583000	0.36579	0.503000	0.28060	0.407000	0.27541	CGC	.		0.657	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			A	58834114	G	A	58834114	3	1	26	1	0	0	0	0	1	0	0	0	8850	1087	38	1	414	1	LIPC	15	58834114	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	8283488	58834114	43697278	99	4303											
IREB2	3658	hgsc.bcm.edu;bcgsc.ca	37	15	78732192	78732192	+	Missense_Mutation	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr15:78732192C>A	ENST00000258886.8	+	2	224	c.75C>A	c.(73-75)ttC>ttA	p.F25L	IREB2_ENST00000560440.1_Missense_Mutation_p.F25L	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	25					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATAAGAAGTTCTTCGATGTAT	0.308																																					p.F25L	NSCLC(200;764 2208 35157 49871 50830)	.											.	.	.	0			c.C75A						.						133	113	120					15																	78732192		2196	4293	6489	SO:0001583	missense	3658	exon2			GAAGTTCTTCGAT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.75C>A	15.37:g.78732192C>A	ENSP00000258886:p.Phe25Leu	94	0		91	4	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213559	0.58452	.	.	ENSG00000136381	ENST00000258886	T	0.20463	2.07	4.92	4.92	0.64577	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.052076	0.85682	D	0.000000	T	0.25344	0.0616	M	0.72118	2.19	0.51233	D	0.999915	D;B	0.62365	0.991;0.15	B;B	0.40285	0.325;0.023	T	0.15321	-1.0441	10	0.72032	D	0.01	.	13.6487	0.62297	0.0:1.0:0.0:0.0	.	25;25	P48200;Q8WVK6	IREB2_HUMAN;.	L	25	ENSP00000258886:F25L	ENSP00000258886:F25L	F	+	3	2	IREB2	76519247	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.309000	0.43699	2.274000	0.75844	0.467000	0.42956	TTC	.		0.308	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		A	78732192	C	A	78732192	3	1	26	1	0	0	0	0	1	0	0	0	7853	912	32	3	81	3	IREB2	15	78732192	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	19898078	78732192	23799200	100	4304											
ANPEP	290	hgsc.bcm.edu;bcgsc.ca	37	15	90336304	90336304	+	Silent	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr15:90336304G>T	ENST00000300060.6	-	16	2524	c.2211C>A	c.(2209-2211)acC>acA	p.T737T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	737	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCCAGTTGTTGGTATTATTTC	0.488																																					p.T737T	NSCLC(30;827 977 2459 19669 26125)	.											.	.	.	0			c.C2211A						.						194	194	194					15																	90336304		2200	4299	6499	SO:0001819	synonymous_variant	290	exon16			GTTGTTGGTATTA	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2211C>A	15.37:g.90336304G>T		101	0		69	4	NM_001150	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																			.		0.488	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			T	90336304	G	T	90336304	2	4	26	1	0	0	0	0	0	0	0	1	710	1335	47	3		3	ANPEP	15	90336304	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	11604112	90336304	12195088	101	4305											
IGF1R	3480	hgsc.bcm.edu	37	15	99482568	99482568	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr15:99482568G>T	ENST00000268035.6	+	18	4047	c.3436G>T	c.(3436-3438)Gat>Tat	p.D1146Y	IGF1R_ENST00000558762.1_Missense_Mutation_p.D1145Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)"	GGTAGCCGAAGATTTCACAGT	0.502																																					p.D1146Y		.											IGF1R,NS,lymphoid_neoplasm,0,1	IGF1R	0	0			c.G3436T						.						156	146	149					15																	99482568		2197	4297	6494	SO:0001583	missense	3480	exon18			GCCGAAGATTTCA	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.3436G>T	15.37:g.99482568G>T	ENSP00000268035:p.Asp1146Tyr	57	0		43	2	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063381	0.93898	.	.	ENSG00000140443	ENST00000268035	D	0.90676	-2.71	5.9	5.9	0.94986	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	0.000013	D	0.95127	0.8421	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.94882	0.8040	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	1145;1146	C9J5X1;P08069	.;IGF1R_HUMAN	Y	1146	ENSP00000268035:D1146Y	ENSP00000268035:D1146Y	D	+	1	0	IGF1R	97300091	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	9.832000	0.99423	2.806000	0.96561	0.655000	0.94253	GAT	.		0.502	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99482568	G	T	99482568	3	4	26	1	0	0	0	0	1	0	0	0	7598	942	33	3	3506	3	IGF1R	15	99482568	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	9146264	99482568	3048824	102	4306											
C16orf71	146562	hgsc.bcm.edu;broad.mit.edu	37	16	4796983	4796983	+	Silent	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr16:4796983C>T	ENST00000299320.5	+	8	1715	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.L430L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	413										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GATGGCAGCTCTGGGAGACGC	0.622																																					p.L413L		.											.	.	.	0			c.C1237T						.						29	28	28					16																	4796983		2194	4299	6493	SO:0001819	synonymous_variant	146562	exon8			GCAGCTCTGGGAG	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.1237C>T	16.37:g.4796983C>T		74	0		47	4	NM_139170	Q8NCV0	Silent	SNP	ENST00000299320.5	37	CCDS10521.1																																																																																			.		0.622	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		T	4796983	C	T	4796983	2	4	26	1	0	0	0	0	0	0	0	1	1835	912	32	3		3	C16orf71	16	4796983	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		4796983	85557770	103	4307											
BCL7C	9274	hgsc.bcm.edu	37	16	30904573	30904573	+	Missense_Mutation	SNP	C	C	T	rs138503357		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr16:30904573C>T	ENST00000215115.4	-	2	1146	c.131G>A	c.(130-132)cGt>cAt	p.R44H	MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA|BCL7C_ENST00000380317.4_Missense_Mutation_p.R44H|MIR762_ENST00000390236.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000564901.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	44					apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			CTTGAAGATACGAAGGGAAGT	0.632																																					p.R44H		.											BCL7C_ENST00000380317,NS,carcinoma,0,2	BCL7C_ENST00000380317	0	0			c.G131A						.		HIS/ARG	0,4394		0,0,2197	83	70	74		131	3.2	1	16	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	BCL7C	NM_004765.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	44/218	30904573	1,12993	2197	4300	6497	SO:0001583	missense	9274	exon2			AAGATACGAAGGG	AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.131G>A	16.37:g.30904573C>T	ENSP00000215115:p.Arg44His	15	0		22	3	NM_004765	O43770|Q6PD89	Missense_Mutation	SNP	ENST00000215115.4	37	CCDS10693.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750853	0.69533	0.0	1.16E-4	ENSG00000099385	ENST00000380317;ENST00000215115	T;T	0.60797	0.18;0.16	5.21	3.19	0.36642	.	0.114600	0.37348	N	0.002121	T	0.65502	0.2697	M	0.61703	1.905	0.41573	D	0.988694	D;D	0.65815	0.995;0.994	P;P	0.57846	0.828;0.736	T	0.68588	-0.5369	10	0.87932	D	0	-28.1859	9.4712	0.38844	0.141:0.7808:0.0:0.0782	.	44;44	Q8WUZ0;Q8WUZ0-2	BCL7C_HUMAN;.	H	44	ENSP00000369674:R44H;ENSP00000215115:R44H	ENSP00000215115:R44H	R	-	2	0	BCL7C	30812074	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.497000	0.60367	1.179000	0.42884	0.561000	0.74099	CGT	0.000		0.632	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765		T	30904573	C	T	30904573	3	4	26	1	0	0	0	0	1	0	0	0	1381	536	19	1	542	1	BCL7C	16	30904573	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	26107590	30904573	59450180	104	4308											
THAP11	57215	broad.mit.edu	37	16	67876820	67876820	+	Silent	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr16:67876820G>A	ENST00000303596.1	+	1	608	c.363G>A	c.(361-363)caG>caA	p.Q121Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	121	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcagcagcaacagcagc	0.677																																					p.Q121Q													.	THAP11	27	0			c.G363A						.						28	33	31					16																	67876820		1970	3892	5862	SO:0001819	synonymous_variant	57215	exon1			GCAGCAGCAACAG	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.363G>A	16.37:g.67876820G>A		25	0		30	3	NM_020457	A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																			.		0.677	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		A	67876820	G	A	67876820	2	1	26	1	0	0	0	0	0	0	0	1	15890	962	34	3		3	THAP11	16	67876820	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	36972247	67876820	22477933	105	4309											
PMFBP1	83449	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	72174346	72174346	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr16:72174346C>T	ENST00000237353.10	-	6	1033	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E258K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E113K	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	258						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)				TTTCGAAGTTCTTGAATGAGA	0.453																																					p.E258K													.	PMFBP1	101	0			c.G772A						.						317	305	309					16																	72174346		2198	4300	6498	SO:0001583	missense	83449	exon6			GAAGTTCTTGAAT	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.772G>A	16.37:g.72174346C>T	ENSP00000237353:p.Glu258Lys	93	0		83	17	NM_031293	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018152	0.93404	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.15372	2.43;2.44;2.49	5.65	5.65	0.86999	.	0.240618	0.29799	N	0.011161	T	0.25269	0.0614	N	0.24115	0.695	0.36708	D	0.880505	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.74674	0.984;0.957;0.984	T	0.04635	-1.0937	10	0.13470	T	0.59	-17.4904	15.093	0.72211	0.0:1.0:0.0:0.0	.	258;258;258	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	K	258;258;113	ENSP00000443817:E258K;ENSP00000237353:E258K;ENSP00000347854:E113K	ENSP00000237353:E258K	E	-	1	0	PMFBP1	70731847	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.347000	0.52200	2.941000	0.99782	0.655000	0.94253	GAA	.		0.453	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		T	72174346	C	T	72174346	3	4	26	1	0	0	0	0	1	0	0	0	12173	922	32	3	2375	3	PMFBP1	16	72174346	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	4297526	72174346	18180407	106	4310											
MINK1	1145	hgsc.bcm.edu	37	17	4799740	4799740	+	IGR	SNP	C	C	T	rs576676808		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr17:4799740C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000355280.6_Missense_Mutation_p.T1211M|MINK1_ENST00000347992.7_Missense_Mutation_p.T1182M|C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000453408.3_Missense_Mutation_p.T1191M	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|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)|cation transmembrane transporter activity (GO:0008324)	p.T1211M(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	AGCCAGATCACGCCCCATGCC	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		18285	0		0	False		,,,				2504	0				p.T1211M		.											MINK1_ENST00000355280,NS,carcinoma,0,1	MINK1_ENST00000355280	0	1	Substitution - Missense(1)	prostate(1)	c.C3632T						.						149	161	157					17																	4799740		2145	4245	6390	SO:0001628	intergenic_variant	50488	exon30			AGATCACGCCCCA	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799740C>T		51	0		33	2	NM_153827	D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751173	0.49257	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.05081	3.5;3.5;3.5	4.58	4.58	0.56647	Citron-like (3);	0.130853	0.49916	D	0.000123	T	0.06554	0.0168	L	0.43152	1.355	0.42926	D	0.994303	P;P;P;P	0.42649	0.653;0.786;0.469;0.786	B;B;B;B	0.37601	0.254;0.081;0.186;0.081	T	0.12708	-1.0537	10	0.72032	D	0.01	.	10.0344	0.42120	0.2009:0.7991:0.0:0.0	.	1174;1191;1211;1182	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	M	1211;1191;1182;171	ENSP00000347427:T1211M;ENSP00000406487:T1191M;ENSP00000269296:T1182M	ENSP00000269296:T1182M	T	+	2	0	MINK1	4740516	0.930000	0.31532	0.975000	0.42487	0.987000	0.75469	1.984000	0.40658	2.378000	0.81104	0.561000	0.74099	ACG	.		0.622	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			T	4799740	C	T	4799740	1	4	26	0	1	0	0	0	0	0	0	0	9625	536	19	1		1	MINK1	17	4799740	IGR	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		4799740	76395470	107	4311											
ZBTB4	57659	hgsc.bcm.edu;broad.mit.edu	37	17	7369566	7369566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr17:7369566C>T	ENST00000311403.4	-	3	894	c.555G>A	c.(553-555)tgG>tgA	p.W185*	ZBTB4_ENST00000380599.4_Nonsense_Mutation_p.W185*	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	185					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)		TAGGAGGTACCCAGGCATCAC	0.692																																					p.W185X		.											.	.	.	0			c.G555A						.						22	23	23					17																	7369566		2202	4297	6499	SO:0001587	stop_gained	57659	exon3			AGGTACCCAGGCA	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.555G>A	17.37:g.7369566C>T	ENSP00000307858:p.Trp185*	42	0		30	7	NM_001128833	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Nonsense_Mutation	SNP	ENST00000311403.4	37	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.460881	0.97585	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	.	.	.	4.76	4.76	0.60689	.	0.099468	0.43579	D	0.000555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.3776	10.3135	0.43723	0.0:0.908:0.0:0.092	.	.	.	.	X	185	.	ENSP00000307858:W185X	W	-	3	0	ZBTB4	7310290	0.699000	0.27786	1.000000	0.80357	0.984000	0.73092	1.324000	0.33712	2.467000	0.83353	0.561000	0.74099	TGG	.		0.692	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		T	7369566	C	T	7369566	4	4	26	1	0	0	0	0	0	1	0	0	17589	624	22	3	2494	3	ZBTB4	17	7369566	Nonsense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	2569826	7369566	73825644	108	4312											
ANKFN1	162282	hgsc.bcm.edu	37	17	54431318	54431318	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr17:54431318G>A	ENST00000318698.2	+	5	556	c.521G>A	c.(520-522)gGc>gAc	p.G174D	ANKFN1_ENST00000566473.2_Missense_Mutation_p.G174D	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	174								p.G174V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AACAGCGAGGGCTTGACACCC	0.502																																					p.G174D		.											ANKFN1,colon,carcinoma,-1,1	ANKFN1	-1	1	Substitution - Missense(1)	lung(1)	c.G521A						.						198	139	159					17																	54431318		2203	4300	6503	SO:0001583	missense	162282	exon5			GCGAGGGCTTGAC	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.521G>A	17.37:g.54431318G>A	ENSP00000321627:p.Gly174Asp	91	0		71	3	NM_153228		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960558	0.92791	.	.	ENSG00000153930	ENST00000318698	T	0.77358	-1.09	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90237	0.4283	10	0.87932	D	0	-13.2516	18.7786	0.91922	0.0:0.0:1.0:0.0	.	174	Q8N957	ANKF1_HUMAN	D	174	ENSP00000321627:G174D	ENSP00000321627:G174D	G	+	2	0	ANKFN1	51786317	1.000000	0.71417	0.994000	0.49952	0.763000	0.43281	9.864000	0.99589	2.426000	0.82243	0.655000	0.94253	GGC	.		0.502	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		A	54431318	G	A	54431318	3	1	26	1	0	0	0	0	1	0	0	0	625	1203	42	3	539	3	ANKFN1	17	54431318	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	47061752	54431318	26763892	109	4313											
CSH2	1443	hgsc.bcm.edu	37	17	61949936	61949936	+	Splice_Site	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr17:61949936C>T	ENST00000392886.2	-	4	608		c.e4+1		CSH2_ENST00000345366.7_Intron|CSH2_ENST00000560142.1_Splice_Site|CSH2_ENST00000336844.5_Missense_Mutation_p.V153M	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						GCCACCCTCACCCCCATCAGC	0.582																																					p.V153M		.											.	.	.	0			c.G457A						.						70	66	67					17																	61949936		2203	4300	6503	SO:0001630	splice_region_variant	1443	exon4			CCCTCACCCCCAT	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.456+1G>A	17.37:g.61949936C>T		123	0		78	2	NM_022644	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	CCDS42369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	9.172|9.172	1.021462|1.021462	0.19433|0.19433	.|.	.|.	ENSG00000213218|ENSG00000213218	ENST00000392886|ENST00000336844	.|D	.|0.86956	.|-2.19	3.77|3.77	3.77|3.77	0.43336|0.43336	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91845	.|0.7419	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.91624	.|0.5313	.|8	.|.	.|.	.|.	.|.	14.3045|14.3045	0.66375|0.66375	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|153	.|A6NIT4	.|.	.|M	-1|153	.|ENSP00000338816:V153M	.|.	.|V	-|-	.|1	.|0	CSH2|CSH2	59303668|59303668	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.031000|0.031000	0.12232|0.12232	5.226000|5.226000	0.65299|0.65299	1.924000|1.924000	0.55735|0.55735	0.462000|0.462000	0.41574|0.41574	.|GTG	.		0.582	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991	Intron	T	61949936	C	T	61949936	5	4	26	1	0	0	0	0	0	0	1	0	3950	521	18	3	252	3	CSH2	17	61949936	Splice_Site	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	7518618	61949936	19245274	110	4314											
FHOD3	80206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	34205526	34205526	+	Missense_Mutation	SNP	G	G	T	rs368210942		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr18:34205526G>T	ENST00000359247.4	+	10	1010	c.1010G>T	c.(1009-1011)gGg>gTg	p.G337V	FHOD3_ENST00000591635.1_Missense_Mutation_p.G12C|FHOD3_ENST00000445677.1_Missense_Mutation_p.G337V|FHOD3_ENST00000590592.1_Missense_Mutation_p.G337V|FHOD3_ENST00000257209.4_Missense_Mutation_p.G337V	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	337	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)				CCCCCCAGTGGGTGCCGGGAC	0.677																																					p.G337V		.											.	.	.	0			c.G1010T						.						38	43	41					18																	34205526		2203	4300	6503	SO:0001583	missense	80206	exon10			CCAGTGGGTGCCG	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.1010G>T	18.37:g.34205526G>T	ENSP00000352186:p.Gly337Val	68	0		58	16	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	19.51	3.840597	0.71488	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.25912	1.77;1.77;1.77	5.75	5.75	0.90469	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.100762	0.64402	N	0.000002	T	0.41373	0.1156	L	0.59436	1.845	0.80722	D	1	B;P;D;D	0.57257	0.216;0.941;0.972;0.979	B;P;P;P	0.55161	0.188;0.77;0.536;0.593	T	0.04708	-1.0932	10	0.39692	T	0.17	.	16.6927	0.85326	0.0:0.0:1.0:0.0	.	337;337;337;337	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	V	337	ENSP00000257209:G337V;ENSP00000352186:G337V;ENSP00000411430:G337V	ENSP00000257209:G337V	G	+	2	0	FHOD3	32459524	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.163000	0.64948	2.716000	0.92895	0.655000	0.94253	GGG	.		0.677	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		T	34205526	G	T	34205526	3	4	26	1	0	0	0	0	1	0	0	0	5905	1232	43	3	1048	3	FHOD3	18	34205526	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		34205526	43871722	111	4315											
ALPK2	115701	hgsc.bcm.edu;bcgsc.ca	37	18	56202476	56202476	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr18:56202476G>T	ENST00000361673.3	-	5	5156	c.4943C>A	c.(4942-4944)tCc>tAc	p.S1648Y	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1648	Poly-Ser.					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						CTTCGCTGAGGAGCTAGATGA	0.463																																					p.S1648Y		.											.	.	.	0			c.C4943A						.						74	78	77					18																	56202476		2203	4300	6503	SO:0001583	missense	115701	exon5			GCTGAGGAGCTAG	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.4943C>A	18.37:g.56202476G>T	ENSP00000354991:p.Ser1648Tyr	91	0		75	4	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865709	0.51588	.	.	ENSG00000198796	ENST00000361673	T	0.55588	0.51	5.74	2.91	0.33838	.	5.297280	0.00166	N	0.000005	T	0.68458	0.3003	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;0.991	D;P	0.70935	0.971;0.862	T	0.32455	-0.9906	10	0.87932	D	0	0.0915	6.4782	0.22047	0.1684:0.1469:0.6847:0.0	.	1643;1648	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	Y	1648	ENSP00000354991:S1648Y	ENSP00000354991:S1648Y	S	-	2	0	ALPK2	54353456	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.091000	0.30915	0.309000	0.22966	0.655000	0.94253	TCC	.		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56202476	G	T	56202476	3	4	26	1	0	0	0	0	1	0	0	0	545	1174	41	3	1605	3	ALPK2	18	56202476	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	21996950	56202476	21874772	112	4316											
C19orf26	255057	broad.mit.edu	37	19	1234721	1234721	+	Missense_Mutation	SNP	T	T	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:1234721T>C	ENST00000382477.2	-	6	810	c.536A>G	c.(535-537)gAc>gGc	p.D179G	C19orf26_ENST00000215376.6_Missense_Mutation_p.D153G|C19orf26_ENST00000590083.1_Missense_Mutation_p.D159G			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	179						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)		GTGGTGGAAGTCCCCCTCCGT	0.652										HNSCC(14;0.022)																											p.D159G													.	C19orf26	31	0			c.A476G						.						116	94	101					19																	1234721		2200	4299	6499	SO:0001583	missense	255057	exon6			TGGAAGTCCCCCT	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.536A>G	19.37:g.1234721T>C	ENSP00000371917:p.Asp179Gly	80	1		74	4	NM_152769	O43385	Missense_Mutation	SNP	ENST00000382477.2	37		.	.	.	.	.	.	.	.	.	.	T	23.3	4.396055	0.83011	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.06	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.66630	-0.5875	9	0.87932	D	0	.	10.5162	0.44892	0.0:0.0:0.0:1.0	.	153	Q8N350-2	.	G	179;153	.	ENSP00000215376:D153G	D	-	2	0	C19orf26	1185721	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.064000	0.76721	1.407000	0.46875	0.459000	0.35465	GAC	.		0.652	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		C	1234721	T	C	1234721	3	2	26	1	0	0	0	0	1	0	0	0	1923	1667	58	4	901	4	C19orf26	19	1234721	Missense_Mutation	SNP	T	TCGA-WD-A7RX-01A-12D-A417-09		1234721	57894262	113	4317											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	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		.											MUC16_ENST00000397910,bladder,carcinoma,0,2	MUC16_ENST00000397910	0	0			c.T984C						.						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		30	0		27	3	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9090831	A	G	9090831	2	3	26	1	0	0	0	0	0	0	0	1	10011	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	7856110	9090831	50038152	114	4318											
DNMT1	1786	ucsc.edu;bcgsc.ca	37	19	10250386	10250386	+	Missense_Mutation	SNP	C	C	T	rs564106859		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:10250386C>T	ENST00000340748.4	-	33	4101	c.3866G>A	c.(3865-3867)cGc>cAc	p.R1289H	DNMT1_ENST00000540357.1_Missense_Mutation_p.R1289H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1305H|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1289	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)	p.R1289H(1)		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)	ATAGCCCATGCGGACCAGGCA	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18696	0		0	False		,,,				2504	0				p.R1305H													DNMT1,colon,NS,0,1	DNMT1	148	1	Substitution - Missense(1)	large_intestine(1)	c.G3914A						.						59	52	54					19																	10250386		2203	4300	6503	SO:0001583	missense	1786	exon34			CCCATGCGGACCA	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.3866G>A	19.37:g.10250386C>T	ENSP00000345739:p.Arg1289His	73	0		40	4	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717524	0.89205	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.44083	0.93;0.93;0.93	5.2	4.17	0.49024	.	0.121674	0.64402	D	0.000011	T	0.60573	0.2279	M	0.67397	2.05	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.961;0.961;0.977	T	0.64097	-0.6487	10	0.72032	D	0.01	.	12.6228	0.56614	0.0:0.9173:0.0:0.0827	.	1289;1305;1289	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	1305;1289;1289;1157	ENSP00000352516:R1305H;ENSP00000440457:R1289H;ENSP00000345739:R1289H	ENSP00000345739:R1289H	R	-	2	0	DNMT1	10111386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	1.196000	0.43129	0.558000	0.71614	CGC	.		0.647	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		T	10250386	C	T	10250386	3	4	26	1	0	0	0	0	1	0	0	0	4689	768	27	1	1016	1	DNMT1	19	10250386	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	1159555	10250386	48878597	115	4319											
LPHN1	22859	bcgsc.ca	37	19	14266967	14266967	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:14266967C>T	ENST00000340736.6	-	18	3392	c.3095G>A	c.(3094-3096)aGc>aAc	p.S1032N	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.S1027N	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1032					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						CACAGATGAGCTTCGGATCAT	0.657																																					p.S1032N													.	LPHN1	107	0			c.G3095A						.						71	59	63					19																	14266967		2203	4299	6502	SO:0001583	missense	22859	exon18			GATGAGCTTCGGA	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.3095G>A	19.37:g.14266967C>T	ENSP00000340688:p.Ser1032Asn	46	0		40	5	NM_001008701	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645360	0.47258	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.43294	0.95;0.95	4.72	4.72	0.59763	GPCR, family 2-like (1);	0.233772	0.43416	D	0.000568	T	0.30166	0.0756	L	0.28054	0.825	0.30659	N	0.754635	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.25745	-1.0123	10	0.52906	T	0.07	.	11.1959	0.48713	0.0:0.8138:0.1862:0.0	.	1027;1032	O94910-2;O94910	.;LPHN1_HUMAN	N	1032;1027	ENSP00000340688:S1032N;ENSP00000355328:S1027N	ENSP00000340688:S1032N	S	-	2	0	LPHN1	14127967	0.995000	0.38212	0.952000	0.39060	0.985000	0.73830	2.406000	0.44557	2.178000	0.69098	0.555000	0.69702	AGC	.		0.657	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14266967	C	T	14266967	3	4	26	1	0	0	0	0	1	0	0	0	8950	797	28	3	1357	3	LPHN1	19	14266967	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	4016581	14266967	44862016	116	4320											
BST2	684	hgsc.bcm.edu	37	19	17515240	17515240	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:17515240G>T	ENST00000252593.6	-	2	364	c.292C>A	c.(292-294)Cta>Ata	p.L98I	BST2_ENST00000527220.1_Intron|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	98					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GAAGCCATTAGGGCCATCTAA	0.597																																					p.L98I		.											.	.	.	0			c.C292A						.						96	101	100					19																	17515240		2203	4300	6503	SO:0001583	missense	684	exon2			CCATTAGGGCCAT		CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"CD molecules"	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.292C>A	19.37:g.17515240G>T	ENSP00000252593:p.Leu98Ile	85	0		86	4	NM_004335	A8K4Y4|Q53G07	Missense_Mutation	SNP	ENST00000252593.6	37	CCDS12358.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770516	0.49680	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.57595	0.39	2.59	2.59	0.31030	.	.	.	.	.	T	0.67850	0.2937	M	0.69823	2.125	0.09310	N	1	D	0.61697	0.99	D	0.78314	0.991	T	0.53472	-0.8434	9	0.87932	D	0	-16.3912	8.8239	0.35043	0.0:0.0:1.0:0.0	.	98	Q10589	BST2_HUMAN	I	98	ENSP00000252593:L98I	ENSP00000252593:L98I	L	-	1	2	BST2	17376240	0.137000	0.22531	0.015000	0.15790	0.012000	0.07955	0.870000	0.28010	1.787000	0.52448	0.561000	0.74099	CTA	.		0.597	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		T	17515240	G	T	17515240	3	4	26	1	0	0	0	0	1	0	0	0	1538	991	35	3	262	3	BST2	19	17515240	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	3248273	17515240	41613743	117	4321											
KIRREL2	84063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36352740	36352740	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:36352740G>T	ENST00000360202.5	+	11	1522	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G442W|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G392W|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G442W	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	442	Ig-like C2-type 5.				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)			CCTGGAGGCGGGGTCGCAGGG	0.647																																					p.G442W		.											.	.	.	0			c.G1324T						.						22	26	24					19																	36352740		2196	4289	6485	SO:0001583	missense	84063	exon11			GAGGCGGGGTCGC	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.1324G>T	19.37:g.36352740G>T	ENSP00000353331:p.Gly442Trp	35	0		54	17	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753088	0.31046	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.70986	-0.53;-0.29;-0.52	4.69	3.61	0.41365	Immunoglobulin-like (1);	0.000000	0.47093	D	0.000249	T	0.80082	0.4558	M	0.64997	1.995	0.09310	N	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	T	0.70695	-0.4801	10	0.87932	D	0	-19.9894	10.5306	0.44975	0.0:0.1973:0.8027:0.0	.	442;422;442;392;442	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	W	442;392;442;422	ENSP00000262625:G442W;ENSP00000345067:G392W;ENSP00000353331:G442W	ENSP00000262625:G442W	G	+	1	0	KIRREL2	41044580	1.000000	0.71417	0.017000	0.16124	0.078000	0.17371	7.018000	0.76406	0.923000	0.37045	0.555000	0.69702	GGG	.		0.647	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		T	36352740	G	T	36352740	3	4	26	1	0	0	0	0	1	0	0	0	8352	1232	43	3	1366	3	KIRREL2	19	36352740	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	18837500	36352740	22776243	118	4322											
FCGBP	8857	hgsc.bcm.edu	37	19	40419710	40419710	+	Missense_Mutation	SNP	C	C	T	rs149288039		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:40419710C>T	ENST00000221347.6	-	6	3291	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1095						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)			CAGCAGGCAGCGGTCATAGAC	0.642																																					p.R1095H		.											FCGBP,NS,carcinoma,0,1	FCGBP	0	0			c.G3284A						.	C	HIS/ARG	0,4406		0,0,2203	67	66	66		3284	-8.4	0.3	19	dbSNP_134	66	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FCGBP	NM_003890.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	1095/5406	40419710	3,13003	2203	4300	6503	SO:0001583	missense	8857	exon6			AGGCAGCGGTCAT	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.3284G>A	19.37:g.40419710C>T	ENSP00000221347:p.Arg1095His	50	0		39	2	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805462	0.16467	0.0	3.49E-4	ENSG00000090920	ENST00000221347	T	0.76316	-1.01	5.33	-8.42	0.00957	Uncharacterised domain, cysteine-rich (2);	1.221790	0.05751	N	0.603218	T	0.59004	0.2162	L	0.28556	0.865	0.09310	N	1	B	0.29862	0.259	B	0.30179	0.112	T	0.47898	-0.9081	10	0.23302	T	0.38	.	6.1765	0.20447	0.4194:0.223:0.0:0.3576	.	1095	Q9Y6R7	FCGBP_HUMAN	H	1095	ENSP00000221347:R1095H	ENSP00000221347:R1095H	R	-	2	0	FCGBP	45111550	0.000000	0.05858	0.297000	0.24988	0.688000	0.40055	-1.688000	0.01925	-1.913000	0.01079	-0.224000	0.12420	CGC	0.000		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40419710	C	T	40419710	3	4	26	1	0	0	0	0	1	0	0	0	5800	768	27	1	13057	1	FCGBP	19	40419710	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	4066970	40419710	18709273	119	4323											
DHDH	27294	hgsc.bcm.edu	37	19	49447641	49447641	+	Nonsense_Mutation	SNP	G	G	T	rs373524516		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:49447641G>T	ENST00000221403.2	+	6	812	c.772G>T	c.(772-774)Gag>Tag	p.E258*	DHDH_ENST00000523250.1_Nonsense_Mutation_p.E119*|DHDH_ENST00000522614.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	258					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)		GTGCCCGACCGAGCTGGTGGT	0.602																																					p.E258X		.											.	.	.	0			c.G772T						.	G	stop/GLU	0,4406		0,0,2203	52	51	51		772	2.9	0.8	19		51	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	DHDH	NM_014475.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		258/335	49447641	1,13005	2203	4300	6503	SO:0001587	stop_gained	27294	exon6			CCGACCGAGCTGG	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.772G>T	19.37:g.49447641G>T	ENSP00000221403:p.Glu258*	78	0		65	4	NM_014475		Nonsense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716870	0.68844	0.0	1.16E-4	ENSG00000104808	ENST00000221403;ENST00000523250	.	.	.	5.03	2.92	0.33932	.	0.380247	0.29424	N	0.012190	.	.	.	.	.	.	0.22954	N	0.998516	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-35.4758	7.9701	0.30122	0.1852:0.0:0.8148:0.0	.	.	.	.	X	258;119	.	ENSP00000221403:E258X	E	+	1	0	DHDH	54139453	0.000000	0.05858	0.794000	0.32065	0.768000	0.43524	0.038000	0.13862	0.846000	0.35142	-0.424000	0.05967	GAG	.		0.602	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		T	49447641	G	T	49447641	4	4	26	1	0	0	0	0	0	1	0	0	4493	1059	37	2	794	2	DHDH	19	49447641	Nonsense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	9027931	49447641	9681342	120	4324											
TEAD2	8463	hgsc.bcm.edu	37	19	49862735	49862735	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:49862735C>T	ENST00000311227.2	-	3	344	c.254G>A	c.(253-255)cGc>cAc	p.R85H	TEAD2_ENST00000377214.4_Missense_Mutation_p.R85H|TEAD2_ENST00000598810.1_Missense_Mutation_p.R85H|TEAD2_ENST00000593945.1_Missense_Mutation_p.R85H|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_5'UTR|DKKL1_ENST00000594268.1_5'Flank|TEAD2_ENST00000601519.1_Missense_Mutation_p.R85H|AC010524.4_ENST00000596488.1_RNA	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	85					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)	p.R85H(1)		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)		CTTGATGTAGCGGGCGATCAG	0.507																																					p.R85H		.											TEAD2,NS,carcinoma,0,1	TEAD2	0	1	Substitution - Missense(1)	endometrium(1)	c.G254A						.						238	202	214					19																	49862735		2203	4300	6503	SO:0001583	missense	8463	exon3			ATGTAGCGGGCGA	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.254G>A	19.37:g.49862735C>T	ENSP00000310701:p.Arg85His	88	0		49	3	NM_001256658	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185500	0.94885	.	.	ENSG00000074219	ENST00000311227;ENST00000377214	T;T	0.34472	1.36;1.36	5.27	5.27	0.74061	.	0.180168	0.36815	N	0.002383	T	0.62332	0.2419	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.66606	-0.5881	10	0.87932	D	0	-20.092	14.7836	0.69784	0.0:1.0:0.0:0.0	.	85;85	Q15562;Q8NA25	TEAD2_HUMAN;.	H	85	ENSP00000310701:R85H;ENSP00000366419:R85H	ENSP00000310701:R85H	R	-	2	0	TEAD2	54554547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.745000	0.74860	2.636000	0.89361	0.655000	0.94253	CGC	.		0.507	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		T	49862735	C	T	49862735	3	4	26	1	0	0	0	0	1	0	0	0	15786	768	27	1	1129	1	TEAD2	19	49862735	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	415094	49862735	9266248	121	4325											
LILRB5	10990	hgsc.bcm.edu	37	19	54760466	54760466	+	Missense_Mutation	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:54760466C>T	ENST00000316219.5	-	3	348	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	LILRB5_ENST00000345866.6_Missense_Mutation_p.A81T|LILRB5_ENST00000450632.1_Missense_Mutation_p.A81T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A81T	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	81	Ig-like C2-type 1.				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)	p.A81T(2)		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)		TGGAACTTGGCCTTGGCTCCA	0.612																																					p.A81T		.											LILRB5_ENST00000450632,colon,carcinoma,0,2	LILRB5_ENST00000450632	0	2	Substitution - Missense(2)	large_intestine(2)	c.G241A						.						239	227	231					19																	54760466		2203	4300	6503	SO:0001583	missense	10990	exon3			ACTTGGCCTTGGC	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.241G>A	19.37:g.54760466C>T	ENSP00000320390:p.Ala81Thr	62	0		67	2	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604735	0.46423	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	3.29	1.1	0.20463	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.660669	0.13338	N	0.395404	T	0.27697	0.0681	M	0.67953	2.075	0.09310	N	1	P;D;D;D;D	0.71674	0.839;0.996;0.998;0.996;0.986	P;D;P;P;P	0.66847	0.552;0.947;0.905;0.9;0.807	T	0.06679	-1.0813	10	0.56958	D	0.05	.	5.1777	0.15143	0.0:0.7139:0.0:0.2861	.	81;72;81;81;81	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	T	81	ENSP00000320390:A81T;ENSP00000414225:A81T;ENSP00000406478:A81T;ENSP00000263430:A81T	ENSP00000320390:A81T	A	-	1	0	LILRB5	59452278	0.004000	0.15560	0.004000	0.12327	0.027000	0.11550	1.274000	0.33132	0.226000	0.20979	0.585000	0.79938	GCC	.		0.612	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54760466	C	T	54760466	3	4	26	1	0	0	0	0	1	0	0	0	8823	739	26	3	1578	3	LILRB5	19	54760466	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09	4897731	54760466	4368517	122	4326											
AURKC	6795	hgsc.bcm.edu	37	19	57744038	57744038	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr19:57744038G>T	ENST00000302804.7	+	4	611	c.425G>T	c.(424-426)cGc>cTc	p.R142L	AURKC_ENST00000599062.1_Missense_Mutation_p.R139L|AURKC_ENST00000598785.1_Missense_Mutation_p.R108L|AURKC_ENST00000415300.2_Missense_Mutation_p.R123L|AURKC_ENST00000448930.1_Missense_Mutation_p.R108L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	142	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)	p.R142H(1)|p.R108H(1)		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)		GATGAACAGCGCACAGCCACG	0.552																																					p.R142L		.											AURKC_ENST00000302804,NS,haematopoietic_neoplasm,+1,2	AURKC_ENST00000302804	+1	2	Substitution - Missense(2)	large_intestine(2)	c.G425T						.						66	64	65					19																	57744038		2203	4300	6503	SO:0001583	missense	6795	exon4			AACAGCGCACAGC		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.425G>T	19.37:g.57744038G>T	ENSP00000302898:p.Arg142Leu	17	0		21	2	NM_001015878	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	6.328	0.428543	0.11987	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.64438	-0.1;-0.1;-0.1	3.81	-0.993	0.10228	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184695	0.47093	D	0.000253	T	0.30572	0.0769	N	0.04669	-0.19	0.36994	D	0.894914	B;B;B	0.27351	0.021;0.176;0.017	B;B;B	0.22601	0.03;0.04;0.01	T	0.04053	-1.0981	10	0.51188	T	0.08	-1.1314	4.8159	0.13367	0.3083:0.1585:0.5333:0.0	.	139;142;123	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	L	123;108;142	ENSP00000407162:R123L;ENSP00000406798:R108L;ENSP00000302898:R142L	ENSP00000302898:R142L	R	+	2	0	AURKC	62435850	0.998000	0.40836	0.134000	0.22075	0.004000	0.04260	2.854000	0.48325	-0.063000	0.13065	-0.291000	0.09656	CGC	.		0.552	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		T	57744038	G	T	57744038	3	4	26	1	0	0	0	0	1	0	0	0	1225	1087	38	2	444	2	AURKC	19	57744038	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	2983572	57744038	1384945	123	4327											
NSFL1C	55968	ucsc.edu;bcgsc.ca	37	20	1445015	1445015	+	Silent	SNP	C	C	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr20:1445015C>T	ENST00000216879.4	-	2	1029	c.162G>A	c.(160-162)tcG>tcA	p.S54S	NSFL1C_ENST00000353088.2_Silent_p.S54S|NSFL1C_ENST00000350991.4_Silent_p.S54S|NSFL1C_ENST00000476071.1_Silent_p.S54S|NSFL1C_ENST00000381658.4_Intron	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	54						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						GGGTTGCCTGCGAAATGGTCA	0.522																																					p.S54S													NSFL1C,NS,carcinoma,-1,2	NSFL1C	38	0			c.G162A						.						185	171	176					20																	1445015		2203	4300	6503	SO:0001819	synonymous_variant	55968	exon2			TGCCTGCGAAATG	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.162G>A	20.37:g.1445015C>T		57	0		39	4	NM_016143	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	CCDS13015.1																																																																																			.		0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		T	1445015	C	T	1445015	2	4	26	1	0	0	0	0	0	0	0	1	10711	755	27	1		1	NSFL1C	20	1445015	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		1445015	61580505	124	4328											
SLC4A11	83959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	3214919	3214919	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr20:3214919G>T	ENST00000380056.3	-	4	428	c.381C>A	c.(379-381)caC>caA	p.H127Q	SLC4A11_ENST00000380059.3_Missense_Mutation_p.H154Q|SLC4A11_ENST00000539553.2_Missense_Mutation_p.H111Q	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	127					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						CTAGGTCGCGGTGCGCACGGA	0.597																																					p.H154Q	NSCLC(190;922 2139 10266 10292 38692)	.											.	.	.	0			c.C462A						.						99	91	93					20																	3214919		2203	4300	6503	SO:0001583	missense	83959	exon5			GTCGCGGTGCGCA	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.381C>A	20.37:g.3214919G>T	ENSP00000369396:p.His127Gln	20	0		17	7	NM_001174090	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124423	0.37533	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;D	0.81499	-1.49;-1.47;-1.47;-1.5	5.2	4.23	0.50019	Phosphotransferase/anion transporter (1);	0.107760	0.64402	D	0.000006	T	0.76385	0.3980	M	0.64997	1.995	0.58432	D	0.999992	B;B;B	0.28512	0.214;0.136;0.136	B;B;B	0.28465	0.09;0.074;0.074	T	0.70702	-0.4799	10	0.13470	T	0.59	.	14.6266	0.68626	0.0:0.2757:0.7243:0.0	.	111;154;127	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	Q	154;127;111;111	ENSP00000369399:H154Q;ENSP00000369396:H127Q;ENSP00000441370:H111Q;ENSP00000404271:H111Q	ENSP00000369396:H127Q	H	-	3	2	SLC4A11	3162919	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	3.771000	0.55318	1.151000	0.42436	0.655000	0.94253	CAC	.		0.597	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			T	3214919	G	T	3214919	3	4	26	1	0	0	0	0	1	0	0	0	14697	1252	44	3	2358	3	SLC4A11	20	3214919	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	1769904	3214919	59810601	125	4329											
KIAA0406	9675	ucsc.edu;bcgsc.ca	37	20	36612006	36612006	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr20:36612006G>T	ENST00000373448.2	-	9	3360	c.3122C>A	c.(3121-3123)tCc>tAc	p.S1041Y	TTI1_ENST00000373447.3_Missense_Mutation_p.S1041Y|TTI1_ENST00000449821.1_Missense_Mutation_p.S1041Y	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	1041					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GAACCAGGTGGAGTCTGGGTC	0.617																																					p.S1041Y													.	TTI1	104	0			c.C3122A						.						66	52	57					20																	36612006		2203	4300	6503	SO:0001583	missense	9675	exon9			CAGGTGGAGTCTG	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.3122C>A	20.37:g.36612006G>T	ENSP00000362547:p.Ser1041Tyr	51	0		38	4	NM_014657	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924533	0.52653	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.67171	-0.25;-0.25;-0.25	5.38	1.0	0.19881	Armadillo-type fold (1);	0.561481	0.20269	N	0.095704	T	0.57975	0.2090	M	0.63428	1.95	0.34134	D	0.665614	P	0.44006	0.824	B	0.40410	0.328	T	0.65026	-0.6268	10	0.59425	D	0.04	-19.2968	5.6443	0.17580	0.0769:0.4097:0.386:0.1274	.	1041	O43156	TTI1_HUMAN	Y	1041	ENSP00000362547:S1041Y;ENSP00000362546:S1041Y;ENSP00000407270:S1041Y	ENSP00000362546:S1041Y	S	-	2	0	TTI1	36045420	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.263000	0.33004	0.392000	0.25172	0.655000	0.94253	TCC	.		0.617	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		T	36612006	G	T	36612006	3	4	26	1	0	0	0	0	1	0	0	0	8200	1174	41	3	151	3	KIAA0406	20	36612006	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	33397087	36612006	26413514	126	4330											
WFDC11	259239	broad.mit.edu	37	20	44279175	44279175	+	Missense_Mutation	SNP	G	G	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr20:44279175G>T	ENST00000356562.2	-	3	286	c.65C>A	c.(64-66)tCt>tAt	p.S22Y	WFDC11_ENST00000324384.3_Missense_Mutation_p.S22Y			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	22						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				TCCCAGCACAGACAGTAGCAC	0.473																																					p.S22Y													.	WFDC11	11	0			c.C65A						.						236	199	212					20																	44279175		2203	4300	6503	SO:0001583	missense	259239	exon3			AGCACAGACAGTA	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"WAP four-disulfide core domain containing"	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.65C>A	20.37:g.44279175G>T	ENSP00000348968:p.Ser22Tyr	69	0		37	3	NM_147197	E1P624|Q5TGZ6	Missense_Mutation	SNP	ENST00000356562.2	37	CCDS13364.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369458	0.42003	.	.	ENSG00000180083	ENST00000356562;ENST00000324384	T;T	0.32753	1.44;1.44	3.53	2.56	0.30785	.	0.896444	0.09075	N	0.852267	T	0.49218	0.1544	.	.	.	0.22412	N	0.999124	D	0.89917	1.0	D	0.68353	0.957	T	0.24119	-1.0169	9	0.46703	T	0.11	-5.904	8.899	0.35484	0.0:0.2288:0.7712:0.0	.	22	Q8NEX6	WFD11_HUMAN	Y	22	ENSP00000348968:S22Y;ENSP00000318753:S22Y	ENSP00000318753:S22Y	S	-	2	0	WFDC11	43712589	0.004000	0.15560	0.570000	0.28473	0.012000	0.07955	0.451000	0.21779	1.045000	0.40225	0.563000	0.77884	TCT	.		0.473	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1			T	44279175	G	T	44279175	3	4	26	1	0	0	0	0	1	0	0	0	17398	942	33	3	210	3	WFDC11	20	44279175	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	7667169	44279175	18746345	127	4331											
GTPBP5	26164	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	60768516	60768516	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr20:60768516G>A	ENST00000370823.3	+	2	58	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Missense_Mutation_p.V14M	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	14					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)										ATTGAGGACCGTGTTTCAGGG	0.562																																					p.V14M		.											.	.	.	0			c.G40A						.						105	107	106					20																	60768516		2203	4300	6503	SO:0001583	missense	26164	exon2			AGGACCGTGTTTC	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.40G>A	20.37:g.60768516G>A	ENSP00000359859:p.Val14Met	46	0		50	10	NM_015666	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	3.432	-0.115873	0.06881	.	.	ENSG00000101181	ENST00000436421;ENST00000370823;ENST00000448254	T;T;T	0.24538	1.85;2.68;2.19	5.0	-10.0	0.00425	.	2.671480	0.00937	N	0.002787	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.06405	0.002;0.001;0.002	T	0.20940	-1.0260	10	0.13470	T	0.59	-0.1974	1.9012	0.03268	0.454:0.1961:0.1545:0.1955	.	14;14;14	Q5JXJ0;E7EU10;Q9H4K7	.;.;GTPB5_HUMAN	M	14	ENSP00000392267:V14M;ENSP00000359859:V14M;ENSP00000414693:V14M	ENSP00000359859:V14M	V	+	1	0	GTPBP5	60201911	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.801000	0.00761	-4.501000	0.00045	-1.829000	0.00594	GTG	.		0.562	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		A	60768516	G	A	60768516	3	1	26	1	0	0	0	0	1	0	0	0	6910	1145	40	1	42	1	GTPBP5	20	60768516	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	16489341	60768516	2257004	128	4332											
UMODL1	89766	hgsc.bcm.edu	37	21	43543114	43543114	+	Missense_Mutation	SNP	G	G	T	rs201855268|rs138728872	byFrequency	TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr21:43543114G>T	ENST00000408910.2	+	17	3001	c.3001G>T	c.(3001-3003)Gcc>Tcc	p.A1001S	UMODL1_ENST00000400424.2_Missense_Mutation_p.A929S|UMODL1_ENST00000408989.2_Missense_Mutation_p.A1129S|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.A1057S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1001	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)	p.A929T(1)		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						GGTGGTTGTCGCCATCCAGAA	0.622																																					p.A1129S	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											UMODL1,colon,carcinoma,0,1	UMODL1	0	1	Substitution - Missense(1)	large_intestine(1)	c.G3385T						.						84	91	89					21																	43543114		2169	4266	6435	SO:0001583	missense	89766	exon16			GTTGTCGCCATCC		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.3001G>T	21.37:g.43543114G>T	ENSP00000386147:p.Ala1001Ser	13	1		12	2	NM_173568	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544317	0.27563	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.13	0.274	0.15654	Zona pellucida sperm-binding protein (3);	1.345410	0.05541	N	0.565800	T	0.70824	0.3268	L	0.29908	0.895	0.09310	N	0.999997	P;P	0.48230	0.907;0.867	B;B	0.42916	0.393;0.402	T	0.59904	-0.7366	9	.	.	.	-5.8068	6.8413	0.23965	0.4274:0.0:0.5726:0.0	.	1129;1001	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	S	1057;929;1129;1001	ENSP00000383279:A1057S;ENSP00000383276:A929S;ENSP00000386126:A1129S;ENSP00000386147:A1001S	.	A	+	1	0	UMODL1	42416183	0.064000	0.20934	0.024000	0.17045	0.868000	0.49771	0.144000	0.16135	0.045000	0.15804	0.313000	0.20887	GCC	.		0.622	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43543114	G	T	43543114	3	4	26	1	0	0	0	0	1	0	0	0	17029	1087	38	2	3447	2	UMODL1	21	43543114	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09		43543114	4586781	129	4333											
TMPRSS6	164656	hgsc.bcm.edu	37	22	37494529	37494529	+	Missense_Mutation	SNP	C	C	T	rs371788844		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chr22:37494529C>T	ENST00000346753.3	-	3	406	c.290G>A	c.(289-291)cGc>cAc	p.R97H	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R97H|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R88H|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R88H|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R88H	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	97	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GGAGAAGTGGCGATTGAGTAC	0.577																																					p.R97H		.											TMPRSS6,NS,carcinoma,0,1	TMPRSS6	0	0			c.G290A						.	C	HIS/ARG	0,4406	2.1+/-5.4	0,0,2203	307	292	297		290	4	1	22		297	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS6	NM_153609.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	97/812	37494529	1,13005	2203	4300	6503	SO:0001583	missense	164656	exon3			AAGTGGCGATTGA	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.290G>A	22.37:g.37494529C>T	ENSP00000334962:p.Arg97His	85	0		53	3	NM_153609	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693834	0.68386	0.0	1.16E-4	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.97	3.95	0.45737	SEA (1);	0.127879	0.49916	N	0.000121	T	0.33789	0.0875	N	0.17082	0.46	0.41091	D	0.985598	D;D;D	0.67145	0.996;0.987;0.99	P;P;P	0.50537	0.643;0.495;0.628	T	0.07539	-1.0767	10	0.34782	T	0.22	.	11.0532	0.47903	0.0:0.912:0.0:0.088	.	97;88;97	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	H	88;97;88;88;97;88	ENSP00000371211:R88H;ENSP00000334962:R97H;ENSP00000385453:R88H;ENSP00000384964:R88H;ENSP00000397691:R97H;ENSP00000400317:R88H	ENSP00000334962:R97H	R	-	2	0	TMPRSS6	35824475	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.474000	0.45154	1.079000	0.41038	0.561000	0.74099	CGC	.		0.577	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37494529	C	T	37494529	3	4	26	1	0	0	0	0	1	0	0	0	16298	768	27	1	2209	1	TMPRSS6	22	37494529	Missense_Mutation	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		37494529	13810037	130	4334											
SLC25A6	293	broad.mit.edu	37	X	1506182	1506182	+	Silent	SNP	C	C	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chrX:1506182C>A	ENST00000381401.5	-	3	1443	c.729G>T	c.(727-729)ggG>ggT	p.G243G	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	243					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(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)			Clodronate(DB00720)	CTCCTTTGCGCCCGGACTGCA	0.672																																					p.G243G													.	SLC25A6	27	0			c.G729T						.						74	79	77					X																	1506182		2203	4296	6499	SO:0001819	synonymous_variant	293	exon3			TTTGCGCCCGGAC	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.729G>T	X.37:g.1506182C>A		101	0		105	4	NM_001636	Q96C49	Silent	SNP	ENST00000381401.5	37	CCDS14114.1																																																																																			.		0.672	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		A	1506182	C	A	1506182	2	1	26	1	0	0	0	0	0	0	0	1	14558	726	26	3		3	SLC25A6	23	1506182	Silent	SNP	C	TCGA-WD-A7RX-01A-12D-A417-09		1506182	153764378	131	4335											
GLRA2	2742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	14708892	14708892	+	Missense_Mutation	SNP	G	G	C			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chrX:14708892G>C	ENST00000218075.4	+	8	1521	c.991G>C	c.(991-993)Gcc>Ccc	p.A331P	GLRA2_ENST00000355020.4_Missense_Mutation_p.A331P|GLRA2_ENST00000443437.2_Missense_Mutation_p.A242P	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	331					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|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)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TGTGTTTGCTGCCTTACTGGA	0.502																																					p.A331P		.											.	.	.	0			c.G991C						.						194	152	166					X																	14708892		2203	4300	6503	SO:0001583	missense	2742	exon9			TTTGCTGCCTTAC		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.991G>C	X.37:g.14708892G>C	ENSP00000218075:p.Ala331Pro	59	0		45	8	NM_001118885	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199469	0.94997	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.85861	-2.04;-2.04;-2.04	5.15	5.15	0.70609	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94850	0.8336	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.994;0.995;0.994	D	0.96440	0.9326	10	0.87932	D	0	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	315;331;331	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	P	242;331;331	ENSP00000387756:A242P;ENSP00000218075:A331P;ENSP00000347123:A331P	ENSP00000218075:A331P	A	+	1	0	GLRA2	14618813	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.715000	0.98748	2.270000	0.75569	0.422000	0.28245	GCC	.		0.502	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			C	14708892	G	C	14708892	3	2	26	1	0	0	0	0	1	0	0	0	6481	1319	46	5	1093	5	GLRA2	23	14708892	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	13202710	14708892	140561668	132	4336											
SATL1	340562	hgsc.bcm.edu	37	X	84362915	84362915	+	Nonsense_Mutation	SNP	G	G	A	rs374764586		TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chrX:84362915G>A	ENST00000395409.3	-	1	1059	c.499C>T	c.(499-501)Cga>Tga	p.R167*	SATL1_ENST00000332921.5_Nonsense_Mutation_p.R167*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R354*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	167	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTTGGGGCTCGTTGCGGTGGA	0.537																																					p.R354X		.											.	.	.	0			c.C1060T						.						193	127	150					X																	84362915		2203	4300	6503	SO:0001587	stop_gained	340562	exon1			GGGCTCGTTGCGG	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.499C>T	X.37:g.84362915G>A	ENSP00000378804:p.Arg167*	109	0		105	4	NM_001012980	A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	G	37	6.492086	0.97612	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	2.67	-5.34	0.02705	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	5.5799	0.17245	0.2755:0.4243:0.3003:0.0	.	.	.	.	X	167;167;354	.	ENSP00000329115:R167X	R	-	1	2	SATL1	84249571	0.015000	0.18098	0.000000	0.03702	0.020000	0.10135	0.082000	0.14847	-1.632000	0.01541	0.384000	0.25694	CGA	.		0.537	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		A	84362915	G	A	84362915	4	1	26	1	0	0	0	0	0	1	0	0	13900	1153	40	1	858	1	SATL1	23	84362915	Nonsense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	69654023	84362915	70907645	133	4337											
AGTR2	186	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	115304157	115304157	+	Silent	SNP	A	A	T			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chrX:115304157A>T	ENST00000371906.4	+	3	814	c.624A>T	c.(622-624)tcA>tcT	p.S208S		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	208					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)	CCCAATGGTCAGCTGGGATTG	0.363																																					p.S208S		.											.	.	.	0			c.A624T						.						112	100	104					X																	115304157		2203	4300	6503	SO:0001819	synonymous_variant	186	exon3			ATGGTCAGCTGGG	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.624A>T	X.37:g.115304157A>T		70	0		47	5	NM_000686	B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	CCDS14569.1																																																																																			.		0.363	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		T	115304157	A	T	115304157	2	4	26	1	0	0	0	0	0	0	0	1	402	175	7	5		5	AGTR2	23	115304157	Silent	SNP	A	TCGA-WD-A7RX-01A-12D-A417-09	30941242	115304157	39966403	134	4338											
SOX3	6658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	139586719	139586719	+	Silent	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chrX:139586719G>A	ENST00000370536.2	-	1	506	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	169					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					AGCGCTTGCTGATCTCAGAAT	0.602																																					p.I169I		.											.	.	.	0			c.C507T						.						69	67	68					X																	139586719		2203	4300	6503	SO:0001819	synonymous_variant	6658	exon1			CTTGCTGATCTCA		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.507C>T	X.37:g.139586719G>A		60	0		69	12	NM_005634	P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	CCDS14669.1																																																																																			.		0.602	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			A	139586719	G	A	139586719	2	1	26	1	0	0	0	0	0	0	0	1	14996	1280	45	3		3	SOX3	23	139586719	Silent	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	24282562	139586719	15683841	135	4339											
PLXNB3	5365	broad.mit.edu	37	X	153040491	153040491	+	Missense_Mutation	SNP	G	G	A			TCGA-WD-A7RX-01A-12D-A417-09	TCGA-WD-A7RX-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f045142-24cb-478a-8b21-9adb37e13d6c	f5ded799-618b-42f4-a824-a8194a599dbd	g.chrX:153040491G>A	ENST00000361971.5	+	24	4202	c.4088G>A	c.(4087-4089)tGt>tAt	p.C1363Y	PLXNB3_ENST00000538966.1_Missense_Mutation_p.C1386Y|PLXNB3_ENST00000538776.1_Missense_Mutation_p.C1016Y|PLXNB3_ENST00000538282.1_3'UTR|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1363					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)					GACGGCCACTGTGCCACTGTG	0.687																																					p.C1386Y													.	PLXNB3	208	0			c.G4157A						.						24	24	24					X																	153040491		2197	4275	6472	SO:0001583	missense	5365	exon25			GCCACTGTGCCAC	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.4088G>A	X.37:g.153040491G>A	ENSP00000355378:p.Cys1363Tyr	17	0		17	3	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.019|0.019	-1.454491|-1.454491	0.01071|0.01071	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776|ENST00000411613	T;T;T|.	0.10960|.	2.82;2.82;2.82|.	4.95|4.95	2.16|2.16	0.27623|0.27623	Plexin, cytoplasmic RasGAP domain (1);|.	0.338459|.	0.32753|.	N|.	0.005681|.	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.02539|0.02539	-0.55|-0.55	0.23425|0.23425	N|N	0.997707|0.997707	B;B;B|.	0.19706|.	0.025;0.038;0.025|.	B;B;B|.	0.29440|.	0.102;0.01;0.102|.	T|T	0.29088|0.29088	-1.0023|-1.0023	10|5	0.87932|.	D|.	0|.	.|.	8.149|8.149	0.31130|0.31130	0.2815:0.0:0.7185:0.0|0.2815:0.0:0.7185:0.0	.|.	1016;1386;1363|.	B7Z3H9;F5H773;Q9ULL4|.	.;.;PLXB3_HUMAN|.	Y|M	1386;1363;1016|69	ENSP00000442736:C1386Y;ENSP00000355378:C1363Y;ENSP00000445569:C1016Y|.	ENSP00000355378:C1363Y|.	C|V	+|+	2|1	0|0	PLXNB3|PLXNB3	152693685|152693685	0.457000|0.457000	0.25752|0.25752	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	3.727000|3.727000	0.54984|0.54984	0.338000|0.338000	0.23692|0.23692	0.292000|0.292000	0.19580|0.19580	TGT|GTG	.		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153040491	G	A	153040491	3	1	26	1	0	0	0	0	1	0	0	0	12164	1377	48	3	4296	3	PLXNB3	23	153040491	Missense_Mutation	SNP	G	TCGA-WD-A7RX-01A-12D-A417-09	13453772	153040491	2230069	136	4340											
EPHA2	1969	hgsc.bcm.edu	37	1	16475262	16475263	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:16475262_16475263insT	ENST00000358432.5	-	3	587_588	c.433_434insA	c.(433-435)attfs	p.I145fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	145	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)	ATCGGGCGCAATGGTGTCAATC	0.604																																					p.I145fs		.											.	.	.	0			c.434_435insA						.																																			SO:0001589	frameshift_variant	1969	exon3			GGCGCAATGGTGT	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.434dupA	1.37:g.16475263_16475263dupT	ENSP00000351209:p.Ile145fs	16	0		19	12	NM_004431	B5A968|Q8N3Z2	Frame_Shift_Ins	INS	ENST00000358432.5	37	CCDS169.1																																																																																			.		0.604	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		T	16475263	-	T	16475262	7	5	27	1	0	1	1	0	0	0	0	0	5183	101	4	0	2556	0	EPHA2	1	16475262	Frame_Shift_Ins	INS	-	TCGA-YR-A95A-01A-12D-A417-09		16475262	232775359	1	4341											
ARID1A	8289	hgsc.bcm.edu	37	1	27101427	27101428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:27101427_27101428insT	ENST00000324856.7	+	18	5080_5081	c.4709_4710insT	c.(4708-4713)tctaacfs	p.N1571fs	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.N1188fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1571					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.N1571fs*40(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)		CCCCCTCCATCTAACTACCAGC	0.629			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.S1570fs		.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.,1	.	842	1	Deletion - Frameshift(1)	ovary(1)	c.4709_4710insT						.																																			SO:0001589	frameshift_variant	8289	exon18			CTCCATCTAACTA	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.4710dupT	1.37:g.27101428_27101428dupT	ENSP00000320485:p.Asn1571fs	73	0		24	13	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	CCDS285.1																																																																																			.		0.629	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27101428	-	T	27101427	7	5	27	1	0	1	1	0	0	0	0	0	913	913	32	0	4779	0	ARID1A	1	27101427	Frame_Shift_Ins	INS	-	TCGA-YR-A95A-01A-12D-A417-09	10626165	27101427	222149194	2	4342											
AGBL4	84871	hgsc.bcm.edu	37	1	49056576	49056576	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:49056576C>T	ENST00000371839.1	-	10	1149	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	AGBL4_ENST00000334103.7_Missense_Mutation_p.D78N	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	345					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)		CGTTCCTCATCCTCAAAGATG	0.478																																					p.D345N		.											AGBL4,parotid,carcinoma,0,1	AGBL4	0	0			c.G1033A						.						61	63	62					1																	49056576		1955	4134	6089	SO:0001583	missense	84871	exon10			CCTCATCCTCAAA	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.1033G>A	1.37:g.49056576C>T	ENSP00000360905:p.Asp345Asn	49	0		24	2	NM_032785	B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116518	0.56505	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103	T;T	0.12774	2.65;2.65	5.79	5.79	0.91817	Peptidase M14, carboxypeptidase A (1);	0.307834	0.41194	D	0.000938	T	0.14399	0.0348	L	0.47078	1.49	0.39711	D	0.971336	B;B;B;B;B	0.22746	0.028;0.005;0.074;0.049;0.049	B;B;B;B;B	0.31686	0.012;0.006;0.073;0.134;0.134	T	0.10019	-1.0648	9	.	.	.	-34.4359	9.8923	0.41298	0.0:0.785:0.1402:0.0748	.	160;357;78;190;345	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.;.;.;.;CBPC6_HUMAN	N	345;339;78	ENSP00000360905:D345N;ENSP00000335516:D78N	.	D	-	1	0	AGBL4	48829163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.509000	0.60448	2.744000	0.94065	0.650000	0.86243	GAT	.		0.478	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		T	49056576	C	T	49056576	3	4	27	1	0	0	0	0	1	0	0	0	377	855	30	3	498	3	AGBL4	1	49056576	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	21955149	49056576	200194045	3	4343											
GBP4	115361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	89650997	89650997	+	Silent	SNP	A	A	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:89650997A>T	ENST00000355754.6	-	11	1960	c.1863T>A	c.(1861-1863)acT>acA	p.T621T	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	621						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)		CCCCAGGTAGAGTGACAATCA	0.358																																					p.T621T		.											.	.	.	0			c.T1863A						.						125	111	116					1																	89650997		2203	4300	6503	SO:0001819	synonymous_variant	115361	exon11			AGGTAGAGTGACA	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.1863T>A	1.37:g.89650997A>T		68	0		54	21	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	CCDS721.1																																																																																			.		0.358	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		T	89650997	A	T	89650997	2	4	27	1	0	0	0	0	0	0	0	1	6301	291	11	5		5	GBP4	1	89650997	Silent	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	40594421	89650997	159599624	4	4344											
CSF1	1435	hgsc.bcm.edu	37	1	110456921	110456921	+	Missense_Mutation	SNP	C	C	A	rs202209718		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:110456921C>A	ENST00000329608.6	+	2	471	c.80C>A	c.(79-81)gCg>gAg	p.A27E	CSF1_ENST00000344188.5_Missense_Mutation_p.A27E|CSF1_ENST00000369801.1_Missense_Mutation_p.A27E|CSF1_ENST00000369802.3_Missense_Mutation_p.A27E|CSF1_ENST00000420111.2_Missense_Mutation_p.A27E	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	27					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)		TGTCTCCTGGCGAGCAGGAGT	0.587																																					p.A27E		.											CSF1,NS,carcinoma,0,1	CSF1	0	0			c.C80A						.						170	156	161					1																	110456921		2203	4300	6503	SO:0001583	missense	1435	exon2			TCCTGGCGAGCAG	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.80C>A	1.37:g.110456921C>A	ENSP00000327513:p.Ala27Glu	37	0		29	2	NM_172210	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589847	0.28357	.	.	ENSG00000184371	ENST00000527192;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.1	-0.00881	0.14003	.	0.554702	0.16637	N	0.205801	T	0.01940	0.0061	N	0.08118	0	0.22684	N	0.998856	B;B;B	0.18968	0.032;0.031;0.025	B;B;B	0.19148	0.024;0.013;0.02	T	0.43798	-0.9369	10	0.54805	T	0.06	.	7.8602	0.29506	0.0:0.3634:0.0:0.6366	.	27;27;27	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	E	34;27;27;27;27;27;27	ENSP00000434527:A34E;ENSP00000349854:A27E;ENSP00000342718:A27E;ENSP00000327513:A27E;ENSP00000358817:A27E;ENSP00000407317:A27E;ENSP00000358816:A27E	ENSP00000327513:A27E	A	+	2	0	CSF1	110258444	1.000000	0.71417	0.988000	0.46212	0.530000	0.34684	0.192000	0.17096	-0.176000	0.10707	-0.331000	0.08364	GCG	.		0.587	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		A	110456921	C	A	110456921	3	1	27	1	0	0	0	0	1	0	0	0	3940	768	27	2	86	2	CSF1	1	110456921	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	20805924	110456921	138793700	5	4345											
CSDE1	7812	hgsc.bcm.edu	37	1	115262239	115262239	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:115262239C>T	ENST00000358528.4	-	18	2603	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CSDE1_ENST00000438362.2_Missense_Mutation_p.R772H|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695H|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726H|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695H|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596H|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741H	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726	CSD 9.				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)		CTTGCCAGTGCGCTGATTAAG	0.453																																					p.R772H		.											CSDE1_ENST00000369530,NS,carcinoma,-1,2	CSDE1_ENST00000369530	-1	0			c.G2315A						.						144	144	144					1																	115262239		2203	4300	6503	SO:0001583	missense	7812	exon19			CCAGTGCGCTGAT		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.2177G>A	1.37:g.115262239C>T	ENSP00000351329:p.Arg726His	48	0		33	2	NM_001242891	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227100	0.95173	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	4.33	0.51752	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.092767	0.85682	D	0.000000	T	0.64811	0.2632	M	0.87328	2.875	0.80722	D	1	D;B;B	0.59767	0.986;0.003;0.003	P;B;B	0.49597	0.616;0.005;0.003	T	0.73219	-0.4052	9	0.87932	D	0	-1.1453	12.9091	0.58171	0.0:0.8703:0.0:0.1297	.	741;726;772	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	H	695;772;726;695;596;741;726	.	ENSP00000261443:R695H	R	-	2	0	CSDE1	115063762	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.433000	0.80362	0.955000	0.37878	0.655000	0.94253	CGC	.		0.453	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		T	115262239	C	T	115262239	3	4	27	1	0	0	0	0	1	0	0	0	3938	768	27	1	231	1	CSDE1	1	115262239	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	4805318	115262239	133988382	6	4346											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144931041	144931041	+	Intron	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:144931041C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S223N|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S223N|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						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.S223I(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)		TACCTTTGTGCTTGCTAAGTC	0.562			T	PDGFRB	MPD																																p.S223N		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	PDE4DIP_ENST00000313431,colon,carcinoma,0,1	PDE4DIP_ENST00000313431	0	1	Substitution - Missense(1)	large_intestine(1)	c.G668A						.						91	93	92					1																	144931041		2203	4300	6503	SO:0001627	intron_variant	9659	exon1			TTTGTGCTTGCTA	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.637-7220G>A	1.37:g.144931041C>T		34	0		20	2	NM_001002811	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	.	.	.	.	.	.	.	.	.	.	C	5.744	0.321662	0.10845	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.12147	2.71;2.71	4.96	0.91	0.19337	.	.	.	.	.	T	0.03011	0.0089	L	0.51422	1.61	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.47058	-0.9146	9	0.15499	T	0.54	.	4.6215	0.12455	0.0:0.4999:0.1525:0.3476	.	223	Q5VU43-2	.	N	223	ENSP00000316434:S223N;ENSP00000433392:S223N	ENSP00000316434:S223N	S	-	2	0	PDE4DIP	143642398	0.000000	0.05858	0.003000	0.11579	0.985000	0.73830	0.219000	0.17641	-0.081000	0.12662	0.313000	0.20887	AGC	.		0.562	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144931041	C	T	144931041	1	4	27	0	1	0	0	0	0	0	0	0	11682	797	28	3		3	PDE4DIP	1	144931041	Intron	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	29668802	144931041	104319580	7	4347											
CHD1L	9557	hgsc.bcm.edu	37	1	146751820	146751820	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:146751820C>T	ENST00000369258.4	+	15	1681	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V	CHD1L_ENST00000369259.3_Missense_Mutation_p.A350V|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.A273V|CHD1L_ENST00000431239.1_Missense_Mutation_p.A460V	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	554					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)					GTCTCTGATGCCTTGCCTGCA	0.522																																					p.A554V		.											CHD1L,caecum,carcinoma,0,1	CHD1L	0	0			c.C1661T						.						87	80	83					1																	146751820		2203	4300	6503	SO:0001583	missense	9557	exon15			CTGATGCCTTGCC	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.1661C>T	1.37:g.146751820C>T	ENSP00000358262:p.Ala554Val	68	0		45	2	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549009	0.27652	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89617	-2.54;-1.39;-2.43;-1.51	6.07	1.93	0.25924	.	0.495969	0.24861	N	0.035018	T	0.71660	0.3366	L	0.56769	1.78	0.09310	N	1	B;B;B	0.21452	0.056;0.002;0.0	B;B;B	0.25506	0.061;0.006;0.002	T	0.60845	-0.7182	10	0.27785	T	0.31	.	4.4249	0.11498	0.1557:0.599:0.0:0.2453	.	460;350;554	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	V	460;350;554;273	ENSP00000389031:A460V;ENSP00000358263:A350V;ENSP00000358262:A554V;ENSP00000355100:A273V	ENSP00000355100:A273V	A	+	2	0	CHD1L	145218444	0.000000	0.05858	0.001000	0.08648	0.921000	0.55340	-0.619000	0.05572	0.444000	0.26612	0.655000	0.94253	GCC	.		0.522	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		T	146751820	C	T	146751820	3	4	27	1	0	0	0	0	1	0	0	0	3331	739	26	3	1719	3	CHD1L	1	146751820	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	1820779	146751820	102498801	8	4348											
GON4L	54856	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	155792141	155792141	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:155792141C>T	ENST00000368331.1	-	4	872	c.824G>A	c.(823-825)cGt>cAt	p.R275H	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.R275H|GON4L_ENST00000271883.5_Missense_Mutation_p.R275H|GON4L_ENST00000437809.1_Missense_Mutation_p.R275H	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	275					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)					CTCCAAGGTACGGTCAAGCAT	0.463																																					p.R275H													.	GON4L	392	0			c.G824A						.						378	286	317					1																	155792141		2203	4300	6503	SO:0001583	missense	54856	exon4			AAGGTACGGTCAA	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.824G>A	1.37:g.155792141C>T	ENSP00000357315:p.Arg275His	81	0		41	4	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	17.86	3.493214	0.64186	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.13307	2.78;2.78;2.78;2.6	5.4	5.4	0.78164	.	0.065849	0.64402	D	0.000011	T	0.21881	0.0527	M	0.71036	2.16	0.26808	N	0.969057	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.955;0.966;0.925;0.966	T	0.05451	-1.0884	10	0.87932	D	0	.	9.5335	0.39209	0.0:0.8456:0.0:0.1544	.	275;275;275;275	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	H	275	ENSP00000396117:R275H;ENSP00000357315:R275H;ENSP00000271883:R275H;ENSP00000354322:R275H	ENSP00000271883:R275H	R	-	2	0	GON4L	154058765	0.976000	0.34144	0.972000	0.41901	0.560000	0.35617	2.332000	0.43903	2.813000	0.96785	0.561000	0.74099	CGT	.		0.463	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		T	155792141	C	T	155792141	3	4	27	1	0	0	0	0	1	0	0	0	6598	536	19	1	6131	1	GON4L	1	155792141	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	9040321	155792141	93458480	9	4349											
C1orf111	284680	ucsc.edu;bcgsc.ca	37	1	162343888	162343888	+	Missense_Mutation	SNP	G	G	T	rs527533868		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:162343888G>T	ENST00000367935.5	-	3	815	c.736C>A	c.(736-738)Cct>Act	p.P246T	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	246										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TGTTCAGCAGGACTATTGAAG	0.547																																					p.P246T													.	C1orf111	26	0			c.C736A						.						158	166	163					1																	162343888		2203	4300	6503	SO:0001583	missense	284680	exon3			CAGCAGGACTATT	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.736C>A	1.37:g.162343888G>T	ENSP00000356912:p.Pro246Thr	34	0		23	4	NM_182581	Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995794	0.74703	.	.	ENSG00000171722	ENST00000367935	T	0.51071	0.72	4.99	1.89	0.25635	.	0.773311	0.11637	N	0.544193	T	0.11750	0.0286	N	0.24115	0.695	0.23665	N	0.99717	B	0.33612	0.419	B	0.33121	0.158	T	0.17107	-1.0380	9	0.16420	T	0.52	-23.891	5.7427	0.18102	0.1796:0.1587:0.6616:0.0	.	246	Q5T0L3	CA111_HUMAN	T	246	ENSP00000356912:P246T	ENSP00000356912:P246T	P	-	1	0	C1orf111	160610512	0.002000	0.14202	0.007000	0.13788	0.917000	0.54804	0.901000	0.28445	0.502000	0.28037	0.655000	0.94253	CCT	.		0.547	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		T	162343888	G	T	162343888	3	4	27	1	0	0	0	0	1	0	0	0	1991	1174	41	3	53	3	C1orf111	1	162343888	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	6551747	162343888	86906733	10	4350											
CFHR3	10878	hgsc.bcm.edu	37	1	196759347	196759347	+	Silent	SNP	A	A	T	rs149352569		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:196759347A>T	ENST00000367425.4	+	5	878	c.786A>T	c.(784-786)ccA>ccT	p.P262P	CFHR3_ENST00000391985.3_Silent_p.P201P	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	262	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P262P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CGGAACCACCAAGATGCATAC	0.363																																					p.P262P		.											CFHR3,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	CFHR3	0	1	Substitution - coding silent(1)	central_nervous_system(1)	c.A786T						.						29	39	36					1																	196759347		1522	3863	5385	SO:0001819	synonymous_variant	10878	exon5			ACCACCAAGATGC	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.786A>T	1.37:g.196759347A>T		54	1		34	7	NM_021023	B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	CCDS30958.1																																																																																			.		0.363	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		T	196759347	A	T	196759347	2	4	27	1	0	0	0	0	0	0	0	1	3293	117	5	5		5	CFHR3	1	196759347	Silent	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	34415459	196759347	52491274	11	4351											
ACTN2	88	bcgsc.ca	37	1	236912525	236912525	+	Silent	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr1:236912525G>A	ENST00000366578.4	+	14	1783	c.1617G>A	c.(1615-1617)ctG>ctA	p.L539L	ACTN2_ENST00000546208.1_Silent_p.L33L|ACTN2_ENST00000542672.1_Silent_p.L539L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	539					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)			TGGAGGATCTGCAAGATATGT	0.443																																					p.L539L													.	ACTN2	191	0			c.G1617A						.						116	105	109					1																	236912525		2203	4300	6503	SO:0001819	synonymous_variant	88	exon14			GGATCTGCAAGAT	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.1617G>A	1.37:g.236912525G>A		31	0		20	3	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																			.		0.443	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		A	236912525	G	A	236912525	2	1	27	1	0	0	0	0	0	0	0	1	205	1306	46	3		3	ACTN2	1	236912525	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	40153178	236912525	12338096	12	4352											
BIRC6	57448	hgsc.bcm.edu	37	2	32725169	32725169	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:32725169G>T	ENST00000421745.2	+	46	9158	c.9024G>T	c.(9022-9024)atG>atT	p.M3008I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3008					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.M2980I(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)					CCATGGCAATGATAATTGGTA	0.348																																					p.M3008I	Pancreas(94;175 1509 16028 18060 45422)	.											BIRC6_ENST00000421745,colon,carcinoma,+2,1	BIRC6_ENST00000421745	+2	1	Substitution - Missense(1)	skin(1)	c.G9024T						.						68	72	71					2																	32725169		2150	4281	6431	SO:0001583	missense	57448	exon46			GGCAATGATAATT	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.9024G>T	2.37:g.32725169G>T	ENSP00000393596:p.Met3008Ile	80	0		40	2	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904797	0.72868	.	.	ENSG00000115760	ENST00000421745	T	0.76709	-1.04	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	L	0.61218	1.895	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	D	0.87007	0.2120	10	0.87932	D	0	.	18.8672	0.92298	0.0:0.0:1.0:0.0	.	3008	Q9NR09	BIRC6_HUMAN	I	3008	ENSP00000393596:M3008I	ENSP00000393596:M3008I	M	+	3	0	BIRC6	32578673	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.030000	0.88816	2.444000	0.82710	0.655000	0.94253	ATG	.		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32725169	G	T	32725169	3	4	27	1	0	0	0	0	1	0	0	0	1440	1290	45	3	9206	3	BIRC6	2	32725169	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		32725169	210474204	13	4353											
RNF103	7844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	86831421	86831421	+	Missense_Mutation	SNP	T	T	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:86831421T>C	ENST00000237455.4	-	4	2571	c.1603A>G	c.(1603-1605)Act>Gct	p.T535A	RNF103_ENST00000477307.1_5'Flank|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	535					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TCATTTTCAGTATCTTGAGAC	0.408																																					p.T535A		.											.	.	.	0			c.A1603G						.						166	173	171					2																	86831421		2203	4300	6503	SO:0001583	missense	7844	exon4			TTTCAGTATCTTG	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1603A>G	2.37:g.86831421T>C	ENSP00000237455:p.Thr535Ala	29	0		21	11	NM_005667	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	1.037	-0.680167	0.03353	.	.	ENSG00000239305	ENST00000237455	T	0.41400	1.0	5.73	4.53	0.55603	.	0.847141	0.10908	N	0.620898	T	0.20251	0.0487	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.11251	-1.0595	10	0.16896	T	0.51	-0.2063	10.1044	0.42524	0.0:0.069:0.1252:0.8058	.	535	O00237	RN103_HUMAN	A	535	ENSP00000237455:T535A	ENSP00000237455:T535A	T	-	1	0	RNF103	86684932	0.628000	0.27138	0.757000	0.31301	0.859000	0.49053	2.047000	0.41269	2.179000	0.69175	0.377000	0.23210	ACT	.		0.408	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		C	86831421	T	C	86831421	3	2	27	1	0	0	0	0	1	0	0	0	13468	1638	57	4	458	4	RNF103	2	86831421	Missense_Mutation	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	54106252	86831421	156367952	14	4354											
AFF3	3899	hgsc.bcm.edu	37	2	100199456	100199456	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:100199456G>T	ENST00000409236.2	-	15	2709	c.2597C>A	c.(2596-2598)gCa>gAa	p.A866E	AFF3_ENST00000409579.1_Missense_Mutation_p.A891E|AFF3_ENST00000317233.4_Missense_Mutation_p.A866E|AFF3_ENST00000356421.2_Missense_Mutation_p.A891E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	866					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						TATTGGTATTGCCACACTGAA	0.418																																					p.A891E		.											AFF3,colon,carcinoma,0,1	AFF3	0	0			c.C2672A						.						72	70	71					2																	100199456		2203	4300	6503	SO:0001583	missense	3899	exon16			GGTATTGCCACAC	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.2597C>A	2.37:g.100199456G>T	ENSP00000387207:p.Ala866Glu	23	1		28	2	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807889	0.50421	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	6.07	6.07	0.98685	.	0.102910	0.42294	D	0.000734	T	0.67841	0.2936	L	0.51422	1.61	0.35127	D	0.767609	D;B;P	0.58268	0.982;0.208;0.928	P;B;P	0.59825	0.864;0.082;0.714	T	0.64867	-0.6306	10	0.07813	T	0.8	.	15.2162	0.73267	0.0:0.1397:0.8603:0.0	.	1019;866;891	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	E	866;891;891;866	ENSP00000317421:A866E;ENSP00000348793:A891E;ENSP00000386834:A891E;ENSP00000387207:A866E	ENSP00000317421:A866E	A	-	2	0	AFF3	99565888	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.654000	0.61469	2.885000	0.99019	0.655000	0.94253	GCA	.		0.418	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		T	100199456	G	T	100199456	3	4	27	1	0	0	0	0	1	0	0	0	358	1319	46	3	1119	3	AFF3	2	100199456	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	13368035	100199456	142999917	15	4355											
TBC1D8	11138	ucsc.edu	37	2	101646196	101646196	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:101646196C>T	ENST00000376840.4	-	12	1933	c.1934G>A	c.(1933-1935)gGt>gAt	p.G645D	TBC1D8_ENST00000409318.1_Missense_Mutation_p.G660D			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	645	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGGGAGATGACCCTTGATGAG	0.567																																					p.G645D													.	TBC1D8	169	0			c.G1934A						.						81	87	85					2																	101646196		2043	4199	6242	SO:0001583	missense	11138	exon12			AGATGACCCTTGA	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1934G>A	2.37:g.101646196C>T	ENSP00000366036:p.Gly645Asp	27	1		17	4	NM_001102426	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	5.054	0.195650	0.09599	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.10573	2.86;2.86	5.54	4.32	0.51571	Rab-GAP/TBC domain (5);	0.363501	0.26418	N	0.024489	T	0.01870	0.0059	N	0.00106	-2.12	0.38926	D	0.957846	B	0.02656	0.0	B	0.04013	0.001	T	0.37150	-0.9718	10	0.02654	T	1	-16.2226	10.0172	0.42022	0.0:0.0892:0.0:0.9108	.	645	O95759	TBCD8_HUMAN	D	645;660	ENSP00000366036:G645D;ENSP00000386856:G660D	ENSP00000366036:G645D	G	-	2	0	TBC1D8	101012628	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.071000	0.64382	0.835000	0.34877	-0.345000	0.07892	GGT	.		0.567	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		T	101646196	C	T	101646196	3	4	27	1	0	0	0	0	1	0	0	0	15672	507	18	3	1524	3	TBC1D8	2	101646196	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	1446740	101646196	141553177	16	4356											
ITGB6	3694	hgsc.bcm.edu	37	2	161030579	161030579	+	Missense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:161030579C>A	ENST00000283249.2	-	5	902	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ITGB6_ENST00000428609.2_Missense_Mutation_p.R180I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.R222I|ITGB6_ENST00000409967.2_Missense_Mutation_p.R222I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	222	VWFA.				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)	p.R222I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCATTGAATCTTTCAGCATC	0.353																																					p.R222I		.											ITGB6,NS,carcinoma,0,2	ITGB6	0	1	Substitution - Missense(1)	large_intestine(1)	c.G665T						.						87	83	84					2																	161030579		2203	4300	6503	SO:0001583	missense	3694	exon5			TTGAATCTTTCAG		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.665G>T	2.37:g.161030579C>A	ENSP00000283249:p.Arg222Ile	48	0		36	2	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525854	0.44969	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.3	2.47	0.30058	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.193347	0.53938	D	0.000044	D	0.89294	0.6674	M	0.69823	2.125	0.58432	D	0.999999	B;B	0.33777	0.425;0.425	B;B	0.31016	0.123;0.123	D	0.86683	0.1918	10	0.54805	T	0.06	.	9.9365	0.41554	0.0:0.6511:0.0:0.3489	.	180;222	E9PEE8;P18564	.;ITB6_HUMAN	I	222;180;222;222	ENSP00000283249:R222I;ENSP00000408024:R180I;ENSP00000386828:R222I;ENSP00000386367:R222I	ENSP00000283249:R222I	R	-	2	0	ITGB6	160738825	0.700000	0.27796	1.000000	0.80357	0.960000	0.62799	-0.031000	0.12287	0.729000	0.32403	0.491000	0.48974	AGA	.		0.353	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		A	161030579	C	A	161030579	3	1	27	1	0	0	0	0	1	0	0	0	7926	913	32	3	1745	3	ITGB6	2	161030579	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	59384383	161030579	82168794	17	4357											
LRP2	4036	hgsc.bcm.edu	37	2	170062925	170062925	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:170062925G>T	ENST00000263816.3	-	39	7590	c.7305C>A	c.(7303-7305)ttC>ttA	p.F2435L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2435					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.F2435Y(1)|p.F2435F(1)		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)"	AATTTTGTGTGAAGTAGATTC	0.433																																					p.F2435L		.											LRP2,NS,carcinoma,0,1	LRP2	0	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)	c.C7305A						.						84	87	86					2																	170062925		2203	4300	6503	SO:0001583	missense	4036	exon39			TTGTGTGAAGTAG		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.7305C>A	2.37:g.170062925G>T	ENSP00000263816:p.Phe2435Leu	88	0		62	3	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134537	0.37630	.	.	ENSG00000081479	ENST00000263816	D	0.91407	-2.84	5.87	1.57	0.23409	Six-bladed beta-propeller, TolB-like (1);	0.090529	0.85682	N	0.000000	D	0.87696	0.6242	M	0.69358	2.11	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.82851	-0.0253	10	0.62326	D	0.03	.	9.904	0.41364	0.4346:0.0:0.5654:0.0	.	2435	P98164	LRP2_HUMAN	L	2435	ENSP00000263816:F2435L	ENSP00000263816:F2435L	F	-	3	2	LRP2	169771171	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	1.362000	0.34148	0.400000	0.25396	0.591000	0.81541	TTC	.		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170062925	G	T	170062925	3	4	27	1	0	0	0	0	1	0	0	0	8991	1281	45	3	6826	3	LRP2	2	170062925	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	9032346	170062925	73136448	18	4358											
WDR12	55759	hgsc.bcm.edu	37	2	203748929	203748929	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:203748929C>T	ENST00000261015.4	-	10	1729	c.980G>A	c.(979-981)cGa>cAa	p.R327Q		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACCTTTAGTTCGGGGATCCCA	0.388																																					p.R327Q		.											WDR12,colon,carcinoma,0,1	WDR12	0	0			c.G980A						.						82	76	78					2																	203748929		2203	4300	6503	SO:0001583	missense	55759	exon10			TTAGTTCGGGGAT	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.980G>A	2.37:g.203748929C>T	ENSP00000261015:p.Arg327Gln	54	0		33	2	NM_018256		Missense_Mutation	SNP	ENST00000261015.4	37	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727695	0.96847	.	.	ENSG00000138442	ENST00000261015	T	0.20332	2.08	5.75	5.75	0.90469	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	0.44180	0.1281	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.08554	-1.0716	10	0.48119	T	0.1	-4.9717	20.0071	0.97436	0.0:1.0:0.0:0.0	.	327;327	Q53T99;Q9GZL7	.;WDR12_HUMAN	Q	327	ENSP00000261015:R327Q	ENSP00000261015:R327Q	R	-	2	0	WDR12	203457174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.721000	0.93114	0.549000	0.68633	CGA	.		0.388	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		T	203748929	C	T	203748929	3	4	27	1	0	0	0	0	1	0	0	0	17323	884	31	1	307	1	WDR12	2	203748929	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	33686004	203748929	39450444	19	4359											
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																p.R132C	Pancreas(158;264 1958 3300 35450 36047)	.		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	IDH1,NS,haematopoietic_neoplasm,0,788	IDH1	0	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	c.C394T						.						81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417	exon4			CATGACGACCTAT		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	46	0		38	16	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	.		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			A	209113113	G	A	209113113	3	1	27	1	0	0	0	0	1	0	0	0	7521	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	5364184	209113113	34086260	20	4360											
FN1	2335	hgsc.bcm.edu	37	2	216243985	216243985	+	Silent	SNP	G	G	A	rs376598003		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:216243985G>A	ENST00000359671.1	-	33	5482	c.5217C>T	c.(5215-5217)agC>agT	p.S1739S	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000323926.6_Silent_p.S1830S|FN1_ENST00000421182.1_Silent_p.S1649S|FN1_ENST00000356005.4_Silent_p.S1649S|FN1_ENST00000432072.2_Silent_p.S1740S|FN1_ENST00000354785.4_Silent_p.S1830S|FN1_ENST00000357867.4_Silent_p.S1649S|FN1_ENST00000336916.4_Silent_p.S1739S|FN1_ENST00000346544.3_Silent_p.S1739S|FN1_ENST00000357009.2_Silent_p.S1739S|FN1_ENST00000345488.5_Silent_p.S1739S|FN1_ENST00000443816.1_Silent_p.S1649S|FN1_ENST00000446046.1_Silent_p.S1739S			P02751	FINC_HUMAN	fibronectin 1	1739	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.S1739S(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)	TCCACTGGGCGCTCAGGCTTG	0.512																																					p.S1830S		.											FN1,colon,carcinoma,0,1	FN1	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C5490T						.	G	,,,,	1,4405	2.1+/-5.4	0,1,2202	113	108	110		5217,4947,4947,5217,5490	-9.3	0.2	2		110	0,8600		0,0,4300	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	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	1739/2356,1649/2177,1649/2297,1739/2331,1830/2478	216243985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2335	exon34			CTGGGCGCTCAGG		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.5217C>T	2.37:g.216243985G>A		46	0		41	2	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																																																																																				.		0.512	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216243985	G	A	216243985	2	1	27	1	0	0	0	0	0	0	0	1	5984	1078	38	1		1	FN1	2	216243985	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	7130872	216243985	26955388	21	4361											
GLB1L	79411	bcgsc.ca	37	2	220102658	220102658	+	Silent	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:220102658G>T	ENST00000295759.7	-	15	1676	c.1363C>A	c.(1363-1365)Cga>Aga	p.R455R	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Silent_p.R365R|GLB1L_ENST00000392089.2_Silent_p.R455R|GLB1L_ENST00000409640.1_Silent_p.R365R			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	455					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCATATTTCGCTCCACAACA	0.483																																					p.R455R													.	GLB1L	52	0			c.C1363A						.						91	86	88					2																	220102658		2203	4300	6503	SO:0001819	synonymous_variant	79411	exon15			TATTTCGCTCCAC		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1363C>A	2.37:g.220102658G>T		44	0		43	4	NM_024506	Q96DR0	Silent	SNP	ENST00000295759.7	37	CCDS2437.1																																																																																			.		0.483	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		T	220102658	G	T	220102658	2	4	27	1	0	0	0	0	0	0	0	1	6454	1095	38	2		2	GLB1L	2	220102658	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	3858673	220102658	23096715	22	4362											
PRLH	51052	hgsc.bcm.edu	37	2	238475690	238475690	+	Missense_Mutation	SNP	G	G	A	rs147108124		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:238475690G>A	ENST00000165524.1	+	2	136	c.136G>A	c.(136-138)Ggg>Agg	p.G46R		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	46					autonomic nervous system development (GO:0048483)|energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G46R(1)		endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CGCCAGTCGCGGGATCAGGCC	0.672													g|||	1	0.000199681	8e-04	0	5008	,	,		15849	0		0	False		,,,				2504	0				p.G46R		.											PRLH,NS,carcinoma,0,1	PRLH	0	1	Substitution - Missense(1)	endometrium(1)	c.G136A						.		ARG/GLY	0,4406		0,0,2203	69	56	60		136	-2.2	0	2	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PRLH	NM_015893.1	125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	46/88	238475690	2,13004	2203	4300	6503	SO:0001583	missense	51052	exon2			AGTCGCGGGATCA	AB015419	CCDS2519.1	2q37.3	2013-02-28			ENSG00000071677	ENSG00000071677		"Endogenous ligands"	17945	protein-coding gene	gene with protein product		602663				9607765	Standard	NM_015893		Approved	PRH	uc010znl.2	P81277	OTTHUMG00000133296	ENST00000165524.1:c.136G>A	2.37:g.238475690G>A	ENSP00000165524:p.Gly46Arg	40	0		41	2	NM_015893		Missense_Mutation	SNP	ENST00000165524.1	37	CCDS2519.1	.	.	.	.	.	.	.	.	.	.	g	3.784	-0.045040	0.07452	0.0	2.33E-4	ENSG00000071677	ENST00000165524	.	.	.	4.27	-2.21	0.06973	.	0.641577	0.12186	N	0.491683	T	0.26593	0.0650	.	.	.	0.09310	N	1	B	0.24768	0.111	B	0.18263	0.021	T	0.10636	-1.0621	8	0.38643	T	0.18	-7.8534	9.2435	0.37511	0.4448:0.0:0.5552:0.0	.	46	P81277	PRRP_HUMAN	R	46	.	ENSP00000165524:G46R	G	+	1	0	PRLH	238140429	0.266000	0.24112	0.001000	0.08648	0.087000	0.18053	0.377000	0.20552	-0.832000	0.04251	-0.461000	0.05368	GGG	0.000		0.672	PRLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257081.1	NM_015893		A	238475690	G	A	238475690	3	1	27	1	0	0	0	0	1	0	0	0	12571	1116	39	1	142	1	PRLH	2	238475690	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	18373032	238475690	4723683	23	4363											
HDAC4	9759	broad.mit.edu;bcgsc.ca	37	2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	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)		GGAGCCGGACGAACACGGAGG	0.612																																					p.F746L													HDAC4,NS,carcinoma,0,1	HDAC4	127	0			c.C2238A						.						77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	9759	exon17			CCGGACGAACACG	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.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu	183	1		104	8	NM_006037	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	.		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		T	240016733	G	T	240016733	3	4	27	1	0	0	0	0	1	0	0	0	7036	1049	37	2	1060	2	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	1541043	240016733	3182640	24	4364											
SLC6A6	6533	hgsc.bcm.edu	37	3	14513785	14513785	+	Missense_Mutation	SNP	T	T	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr3:14513785T>C	ENST00000454876.2	+	10	1498	c.1169T>C	c.(1168-1170)cTt>cCt	p.L390P	SLC6A6_ENST00000360861.3_Missense_Mutation_p.L390P			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	390					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						TGGTCCATTCTTTTTTTTATT	0.532																																					p.L390P		.											.,1	.	58	0			c.T1169C						.						127	114	118					3																	14513785		2203	4300	6503	SO:0001583	missense	6533	exon10			CCATTCTTTTTTT		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.1169T>C	3.37:g.14513785T>C	ENSP00000398063:p.Leu390Pro	82	1		32	2	NM_003043	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.608445	0.87258	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	D;D	0.81739	-1.53;-1.53	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96116	0.9081	10	0.87932	D	0	.	15.3456	0.74334	0.0:0.0:0.0:1.0	.	390	P31641	SC6A6_HUMAN	P	390	ENSP00000398063:L390P;ENSP00000354107:L390P	ENSP00000354107:L390P	L	+	2	0	SLC6A6	14488789	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	8.040000	0.89188	2.021000	0.59480	0.482000	0.46254	CTT	.		0.532	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		C	14513785	T	C	14513785	3	2	27	1	0	0	0	0	1	0	0	0	14733	1609	56	4	1203	4	SLC6A6	3	14513785	Missense_Mutation	SNP	T	TCGA-YR-A95A-01A-12D-A417-09		14513785	183508645	25	4365											
NR2C2	7182	bcgsc.ca	37	3	15062263	15062263	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr3:15062263G>T	ENST00000425241.1	+	5	742	c.380G>T	c.(379-381)cGt>cTt	p.R127L	NR2C2_ENST00000323373.6_Missense_Mutation_p.R146L|NR2C2_ENST00000406272.2_Missense_Mutation_p.R127L|NR2C2_ENST00000393102.3_Missense_Mutation_p.R127L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	127					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|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)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTCAGGCCGTCACTATGGG	0.433																																					p.R146L													.	NR2C2	44	0			c.G437T						.						108	112	110					3																	15062263		2203	4300	6503	SO:0001583	missense	7182	exon6			CAGGCCGTCACTA	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.380G>T	3.37:g.15062263G>T	ENSP00000388387:p.Arg127Leu	68	0		30	3	NM_003298	A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.314589	0.81358	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	5.46	3.67	0.42095	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.046228	0.85682	D	0.000000	D	0.97111	0.9056	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.995	D	0.96810	0.9596	10	0.87932	D	0	.	11.5165	0.50524	0.068:0.1255:0.8065:0.0	.	127;146	P49116;F2YGU2	NR2C2_HUMAN;.	L	127;146;127;146;127	ENSP00000388387:R127L;ENSP00000320447:R146L;ENSP00000376814:R127L;ENSP00000401807:R146L;ENSP00000384463:R127L	ENSP00000320447:R146L	R	+	2	0	NR2C2	15037267	1.000000	0.71417	0.967000	0.41034	0.987000	0.75469	9.681000	0.98653	0.790000	0.33803	0.467000	0.42956	CGT	.		0.433	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		T	15062263	G	T	15062263	3	4	27	1	0	0	0	0	1	0	0	0	10662	1145	40	2	455	2	NR2C2	3	15062263	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	548478	15062263	182960167	26	4366											
C3orf23	285343	hgsc.bcm.edu	37	3	44441862	44441862	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr3:44441862C>T	ENST00000342649.4	+	9	1328	c.901C>T	c.(901-903)Cca>Tca	p.P301S	TCAIM_ENST00000417237.1_Missense_Mutation_p.P301S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	301						mitochondrion (GO:0005739)		p.P301S(1)									TGAAAGATTGCCAAGTTATTT	0.294																																					p.P301S		.											C3orf23,colon,carcinoma,0,1	C3orf23	0	1	Substitution - Missense(1)	large_intestine(1)	c.C901T						.						77	79	78					3																	44441862		2203	4299	6502	SO:0001583	missense	285343	exon9			AGATTGCCAAGTT		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.901C>T	3.37:g.44441862C>T	ENSP00000341539:p.Pro301Ser	68	0		37	2	NM_173826	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389742	0.82902	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	.	0.050857	0.85682	D	0.000000	T	0.51058	0.1652	L	0.49455	1.56	0.80722	D	1	D	0.56521	0.976	P	0.52424	0.698	T	0.28870	-1.0030	10	0.21540	T	0.41	.	19.9173	0.97066	0.0:1.0:0.0:0.0	.	301	Q8N3R3	CC023_HUMAN	S	301	ENSP00000402581:P301S;ENSP00000341539:P301S	ENSP00000341539:P301S	P	+	1	0	C3orf23	44416866	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.280000	0.72626	2.707000	0.92482	0.563000	0.77884	CCA	.		0.294	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		T	44441862	C	T	44441862	3	4	27	1	0	0	0	0	1	0	0	0	2223	739	26	3	983	3	C3orf23	3	44441862	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	29379599	44441862	153580568	27	4367											
TLR9	54106	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	52255290	52255290	+	Silent	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr3:52255290G>A	ENST00000360658.2	-	2	3675	c.3042C>T	c.(3040-3042)acC>acT	p.T1014T	TLR9_ENST00000597542.1_Silent_p.T1038T|TLR9_ENST00000494383.1_Nonsense_Mutation_p.Q1168*	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	1014	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 toll-like receptor signaling pathway (GO:0034122)|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-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 JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|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)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|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)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GGTTGTCCCTGGTCAGGGCCA	0.662																																					p.T1014T		.											.	.	.	0			c.C3042T						.						75	81	79					3																	52255290		2203	4300	6503	SO:0001819	synonymous_variant	54106	exon2			GTCCCTGGTCAGG	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.3042C>T	3.37:g.52255290G>A		26	0		23	4	NM_017442	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Silent	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	G	5.754	0.323469	0.10900	.	.	ENSG00000173366	ENST00000494383	.	.	.	4.93	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.36530	D	0.870687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8454	0.23984	0.0935:0.3436:0.563:0.0	.	.	.	.	X	1168	.	.	Q	-	1	0	RP11-330H6.5	52230330	0.004000	0.15560	1.000000	0.80357	0.931000	0.56810	-0.406000	0.07187	0.634000	0.30469	0.591000	0.81541	CAG	.		0.662	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			A	52255290	G	A	52255290	2	1	27	1	0	0	0	0	0	0	0	1	16005	1335	47	3		3	TLR9	3	52255290	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	7813428	52255290	145767140	28	4368											
GNL3	26354	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	52727227	52727227	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr3:52727227G>T	ENST00000418458.1	+	11	1242	c.1069G>T	c.(1069-1071)Ggc>Tgc	p.G357C	SNORD69_ENST00000391150.1_RNA|SNORD19B_ENST00000459623.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.G345C|GLT8D1_ENST00000463827.1_5'Flank|SNORD19_ENST00000410413.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	357	Intermediate. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TACTGTCCCAGGCTACAGGAA	0.398																																					p.G357C		.											.	.	.	0			c.G1069T						.						94	102	100					3																	52727227		2203	4299	6502	SO:0001583	missense	26354	exon11			GTCCCAGGCTACA	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1069G>T	3.37:g.52727227G>T	ENSP00000395772:p.Gly357Cys	22	0		18	4	NM_014366	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	ENST00000418458.1	37	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826126	0.50739	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.29397	1.57;1.57	6.0	3.91	0.45181	.	0.457768	0.28301	N	0.015856	T	0.41811	0.1175	L	0.47716	1.5	0.25454	N	0.987971	P	0.47762	0.9	P	0.56343	0.796	T	0.21348	-1.0248	10	0.72032	D	0.01	.	12.144	0.54014	0.1557:0.0:0.8443:0.0	.	357	Q9BVP2	GNL3_HUMAN	C	357;345	ENSP00000395772:G357C;ENSP00000378278:G345C	ENSP00000378278:G345C	G	+	1	0	GNL3	52702267	1.000000	0.71417	0.162000	0.22713	0.284000	0.27059	3.932000	0.56537	1.547000	0.49401	0.655000	0.94253	GGC	.		0.398	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		T	52727227	G	T	52727227	3	4	27	1	0	0	0	0	1	0	0	0	6563	1000	35	3	1111	3	GNL3	3	52727227	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	471937	52727227	145295203	29	4369											
DNAJB8	165721	broad.mit.edu;bcgsc.ca	37	3	128181874	128181874	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr3:128181874C>T	ENST00000469083.1	-	2	2772	c.215G>A	c.(214-216)aGc>aAc	p.S72N	DNAJB8_ENST00000319153.3_Missense_Mutation_p.S72N|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	72					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)		AGCCCGCCAGCTGTCACAGCC	0.592																																					p.S72N													.	DNAJB8	34	0			c.G215A						.						93	96	95					3																	128181874		2203	4300	6503	SO:0001583	missense	165721	exon3			CGCCAGCTGTCAC		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.215G>A	3.37:g.128181874C>T	ENSP00000417418:p.Ser72Asn	53	0		31	3	NM_153330	B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	6.765	0.509961	0.12883	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73363	-0.74;-0.74	4.12	2.19	0.27852	Heat shock protein DnaJ, N-terminal (2);	0.467337	0.24604	N	0.037107	T	0.59770	0.2218	L	0.36672	1.1	0.09310	N	0.999998	B	0.17038	0.02	B	0.14578	0.011	T	0.54410	-0.8298	10	0.72032	D	0.01	.	5.1524	0.15017	0.0:0.6364:0.1807:0.1829	.	72	Q8NHS0	DNJB8_HUMAN	N	72	ENSP00000417418:S72N;ENSP00000316053:S72N	ENSP00000316053:S72N	S	-	2	0	DNAJB8	129664564	0.102000	0.21896	0.116000	0.21606	0.005000	0.04900	0.616000	0.24344	0.791000	0.33826	0.561000	0.74099	AGC	.		0.592	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		T	128181874	C	T	128181874	3	4	27	1	0	0	0	0	1	0	0	0	4640	797	28	3	487	3	DNAJB8	3	128181874	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	75454647	128181874	69840556	30	4370											
GFM1	85476	ucsc.edu;bcgsc.ca	37	3	158364712	158364712	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr3:158364712C>T	ENST00000486715.1	+	4	905	c.548C>T	c.(547-549)cCa>cTa	p.P183L	GFM1_ENST00000264263.5_Missense_Mutation_p.P183L|GFM1_ENST00000478576.1_Missense_Mutation_p.P183L	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)			GGCTCCAACCCAGCCAGGGCC	0.443																																					p.P183L													.	GFM1	83	0			c.C548T						.						61	62	61					3																	158364712		2203	4300	6503	SO:0001583	missense	85476	exon4			CCAACCCAGCCAG	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.548C>T	3.37:g.158364712C>T	ENSP00000419038:p.Pro183Leu	37	0		31	4	NM_024996		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263527	0.95399	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.65178	-0.14;-0.14;-0.14	5.9	5.9	0.94986	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.81861	0.4912	M	0.83483	2.645	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.992	D;D;D	0.72075	0.958;0.976;0.943	T	0.82291	-0.0530	10	0.56958	D	0.05	-4.1663	20.2789	0.98501	0.0:1.0:0.0:0.0	.	183;183;183	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	L	183	ENSP00000419038:P183L;ENSP00000418755:P183L;ENSP00000264263:P183L	ENSP00000264263:P183L	P	+	2	0	GFM1	159847406	1.000000	0.71417	0.969000	0.41365	0.854000	0.48673	7.426000	0.80270	2.788000	0.95919	0.650000	0.86243	CCA	.		0.443	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		T	158364712	C	T	158364712	3	4	27	1	0	0	0	0	1	0	0	0	6367	594	21	3	562	3	GFM1	3	158364712	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	30182838	158364712	39657718	31	4371											
PCDH7	5099	broad.mit.edu	37	4	30724013	30724013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr4:30724013delG	ENST00000361762.2	+	1	1977	c.969delG	c.(967-969)ccgfs	p.P323fs	PCDH7_ENST00000543491.1_Frame_Shift_Del_p.P323fs	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	323	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						ACAGCGCCCCGGGGACCCCCA	0.667																																					p.P323fs													.	PCDH7	215	0			c.969delG						.						16	20	19					4																	30724013		2181	4276	6457	SO:0001589	frameshift_variant	5099	exon1			CGCCCCGGGGACC	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.969delG	4.37:g.30724013delG	ENSP00000355243:p.Pro323fs	15	0		6	2	NM_032457	O60246|O60247|Q4W5C4	Frame_Shift_Del	DEL	ENST00000361762.2	37	CCDS33971.1																																																																																			.		0.667	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		-	30724013	G	-	30724013	7	5	27	1	0	1	0	1	0	0	0	0	11555	1103	39	0	971	0	PCDH7	4	30724013	Frame_Shift_Del	DEL	G	TCGA-YR-A95A-01A-12D-A417-09		30724013	160430263	32	4372											
HERC3	8916	hgsc.bcm.edu	37	4	89591061	89591061	+	Missense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr4:89591061C>A	ENST00000402738.1	+	15	1923	c.1684C>A	c.(1684-1686)Ctc>Atc	p.L562I	HERC3_ENST00000264345.3_Missense_Mutation_p.L562I|HERC3_ENST00000543130.1_Missense_Mutation_p.L6I	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	562					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)	p.L562I(1)		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)		GCTGGTAAACCTCTATAAAGG	0.373																																					p.L562I		.											HERC3,colon,carcinoma,0,1	HERC3	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1684A						.						104	107	106					4																	89591061		2203	4300	6503	SO:0001583	missense	8916	exon15			GTAAACCTCTATA	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.1684C>A	4.37:g.89591061C>A	ENSP00000385684:p.Leu562Ile	107	0		58	3	NM_014606	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956643	0.34565	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130	T;T;T	0.39787	1.06;1.06;1.21	5.08	5.08	0.68730	.	0.124528	0.56097	D	0.000025	T	0.26085	0.0636	N	0.11313	0.125	0.47949	D	0.999556	P	0.35456	0.502	B	0.30572	0.117	T	0.07271	-1.0781	10	0.30078	T	0.28	.	19.0331	0.92965	0.0:1.0:0.0:0.0	.	562	Q15034	HERC3_HUMAN	I	562;562;6	ENSP00000385684:L562I;ENSP00000264345:L562I;ENSP00000441703:L6I	ENSP00000264345:L562I	L	+	1	0	HERC3	89810084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.643000	0.61390	2.802000	0.96397	0.655000	0.94253	CTC	.		0.373	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		A	89591061	C	A	89591061	3	1	27	1	0	0	0	0	1	0	0	0	7086	681	24	3	1734	3	HERC3	4	89591061	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	58867048	89591061	101563215	33	4373											
GPRIN3	285513	hgsc.bcm.edu	37	4	90169820	90169820	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr4:90169820G>T	ENST00000609438.1	-	2	1960	c.1442C>A	c.(1441-1443)aCa>aAa	p.T481K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T481K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	481										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)		TCCATAACTTGTTTCAGCTTG	0.443																																					p.T481K		.											GPRIN3,right_lower_lobe,carcinoma,0,1	GPRIN3	0	0			c.C1442A						.						100	105	103					4																	90169820		2203	4300	6503	SO:0001583	missense	285513	exon2			TAACTTGTTTCAG	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.1442C>A	4.37:g.90169820G>T	ENSP00000476603:p.Thr481Lys	29	0		40	2	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151717	0.38021	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	5.38	0.496	0.16896	.	1.525110	0.04572	N	0.393554	T	0.08044	0.0201	L	0.27053	0.805	0.09310	N	1	B	0.33583	0.418	B	0.30943	0.122	T	0.33701	-0.9858	10	0.59425	D	0.04	4.3768	4.3946	0.11356	0.4789:0.3593:0.1618:0.0	.	481	Q6ZVF9	GRIN3_HUMAN	K	481	ENSP00000328672:T481K	ENSP00000328672:T481K	T	-	2	0	GPRIN3	90388843	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.597000	0.24059	-0.052000	0.13311	-0.175000	0.13238	ACA	.		0.443	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		T	90169820	G	T	90169820	3	4	27	1	0	0	0	0	1	0	0	0	6758	1377	48	3	892	3	GPRIN3	4	90169820	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	578759	90169820	100984456	34	4374											
FAT4	79633	hgsc.bcm.edu	37	4	126373374	126373374	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr4:126373374C>T	ENST00000394329.3	+	9	11216	c.11203C>T	c.(11203-11205)Cgc>Tgc	p.R3735C	FAT4_ENST00000335110.5_Missense_Mutation_p.R2033C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3735					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						TCATTTTTTACGCATTGCCAG	0.458																																					p.R3735C		.											FAT4_ENST00000394329,NS,carcinoma,0,2	FAT4_ENST00000394329	0	0			c.C11203T						.						142	135	137					4																	126373374		2203	4300	6503	SO:0001583	missense	79633	exon9			TTTTTACGCATTG	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.11203C>T	4.37:g.126373374C>T	ENSP00000377862:p.Arg3735Cys	70	0		38	3	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838173	0.91117	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.58358	0.34;0.34	5.76	5.76	0.90799	.	0.000000	0.35235	U	0.003351	T	0.65913	0.2737	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.95;0.971;0.95	T	0.66618	-0.5878	10	0.66056	D	0.02	.	19.9788	0.97318	0.0:1.0:0.0:0.0	.	2033;3735;3735	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	3735;2033	ENSP00000377862:R3735C;ENSP00000335169:R2033C	ENSP00000335169:R2033C	R	+	1	0	FAT4	126592824	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	7.662000	0.83803	2.719000	0.93026	0.555000	0.69702	CGC	.		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126373374	C	T	126373374	3	4	27	1	0	0	0	0	1	0	0	0	5714	536	19	1	11237	1	FAT4	4	126373374	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	36203554	126373374	64780902	35	4375											
GUCY1A3	2982	hgsc.bcm.edu	37	4	156638432	156638432	+	Missense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr4:156638432C>A	ENST00000296518.7	+	8	1903	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S565Y|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S307Y|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S565Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	565	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)	p.S565Y(1)		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)		GAAGTTATGTCTCCCCATGGA	0.428																																					p.S565Y		.											GUCY1A3,colon,carcinoma,0,1	GUCY1A3	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1694A						.						119	109	112					4																	156638432		2203	4300	6503	SO:0001583	missense	2982	exon8			TTATGTCTCCCCA		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.1694C>A	4.37:g.156638432C>A	ENSP00000296518:p.Ser565Tyr	46	0		24	2	NM_001130687	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888494	0.91814	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.64	5.64	0.86602	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.88228	0.6380	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	D	0.85588	0.1244	10	0.30854	T	0.27	.	19.6996	0.96048	0.0:1.0:0.0:0.0	.	565;565	B3KU69;Q02108	.;GCYA3_HUMAN	Y	565;565;565;565;307;565;565	ENSP00000424361:S565Y;ENSP00000421493:S565Y;ENSP00000426968:S565Y;ENSP00000412201:S565Y;ENSP00000377418:S307Y;ENSP00000296518:S565Y;ENSP00000426040:S565Y	ENSP00000296518:S565Y	S	+	2	0	GUCY1A3	156857882	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.768000	0.85345	2.646000	0.89796	0.655000	0.94253	TCT	.		0.428	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			A	156638432	C	A	156638432	3	1	27	1	0	0	0	0	1	0	0	0	6921	913	32	3	1731	3	GUCY1A3	4	156638432	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	30265058	156638432	34515844	36	4376											
RXFP1	59350	hgsc.bcm.edu	37	4	159514595	159514595	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr4:159514595C>T	ENST00000307765.5	+	3	481	c.230C>T	c.(229-231)gCc>gTc	p.A77V	RXFP1_ENST00000343542.5_Missense_Mutation_p.A77V|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000470033.1_Intron|RXFP1_ENST00000423548.1_Missense_Mutation_p.A77V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	77					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.A77D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAATATTTTGCCAGTTACTAC	0.333																																					p.A77V		.											RXFP1,NS,carcinoma,0,1	RXFP1	0	1	Substitution - Missense(1)	lung(1)	c.C230T						.						117	100	105					4																	159514595		1818	4086	5904	SO:0001583	missense	59350	exon3			ATTTTGCCAGTTA	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.230C>T	4.37:g.159514595C>T	ENSP00000303248:p.Ala77Val	109	0		47	3	NM_021634	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972506	0.34848	.	.	ENSG00000171509	ENST00000307765;ENST00000423548;ENST00000343542	T;T;T	0.69435	-0.36;-0.36;-0.4	5.49	2.82	0.32997	.	0.833845	0.11215	N	0.587325	T	0.56232	0.1971	M	0.63428	1.95	0.43868	D	0.996474	B;B;B	0.16166	0.016;0.002;0.007	B;B;B	0.17098	0.017;0.006;0.01	T	0.44742	-0.9308	10	0.19590	T	0.45	.	1.7209	0.02911	0.1458:0.4791:0.1413:0.2337	.	77;77;77	B4DGP2;Q9HBX9-4;Q9HBX9	.;.;RXFP1_HUMAN	V	77	ENSP00000303248:A77V;ENSP00000405841:A77V;ENSP00000345889:A77V	ENSP00000303248:A77V	A	+	2	0	RXFP1	159734045	0.014000	0.17966	0.007000	0.13788	0.736000	0.42039	-0.129000	0.10515	0.279000	0.22186	0.557000	0.71058	GCC	.		0.333	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		T	159514595	C	T	159514595	3	4	27	1	0	0	0	0	1	0	0	0	13804	739	26	3	240	3	RXFP1	4	159514595	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	2876163	159514595	31639681	37	4377											
ADAMTS16	170690	hgsc.bcm.edu	37	5	5209265	5209265	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr5:5209265C>T	ENST00000274181.7	+	10	1649	c.1511C>T	c.(1510-1512)cCt>cTt	p.P504L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P504L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	504	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P504H(2)		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						TACAAGTATCCTGAGAAATTG	0.463																																					p.P504L		.											ADAMTS16_ENST00000274181,colon,carcinoma,0,2	ADAMTS16_ENST00000274181	0	2	Substitution - Missense(2)	large_intestine(2)	c.C1511T						.						147	144	145					5																	5209265		1902	4138	6040	SO:0001583	missense	170690	exon10			AGTATCCTGAGAA	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.1511C>T	5.37:g.5209265C>T	ENSP00000274181:p.Pro504Leu	49	0		38	2	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893260	0.72524	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.11063	2.81;2.81	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.82517	2.595	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	0.18335	-1.0340	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	504;504;504	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	L	504	ENSP00000274181:P504L;ENSP00000421631:P504L	ENSP00000274181:P504L	P	+	2	0	ADAMTS16	5262265	1.000000	0.71417	0.881000	0.34555	0.222000	0.24845	6.856000	0.75450	2.788000	0.95919	0.650000	0.86243	CCT	.		0.463	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5209265	C	T	5209265	3	4	27	1	0	0	0	0	1	0	0	0	261	681	24	3	1549	3	ADAMTS16	5	5209265	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09		5209265	175705995	38	4378											
SLC30A5	64924	bcgsc.ca	37	5	68423847	68423847	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr5:68423847G>T	ENST00000396591.3	+	15	2625	c.2015G>T	c.(2014-2016)gGa>gTa	p.G672V	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	672					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)		AAAATTGAAGGATTAATATCA	0.368																																					p.G672V													.	SLC30A5	54	0			c.G2015T						.						157	162	160					5																	68423847		2203	4300	6503	SO:0001583	missense	64924	exon15			TTGAAGGATTAAT	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.2015G>T	5.37:g.68423847G>T	ENSP00000379836:p.Gly672Val	68	0		23	3	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237304	0.79800	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.70282	-0.47	5.27	4.4	0.53042	.	0.045357	0.85682	D	0.000000	D	0.88485	0.6449	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91737	0.5401	10	0.87932	D	0	.	13.5333	0.61633	0.0754:0.0:0.9246:0.0	.	672	Q8TAD4	ZNT5_HUMAN	V	672;267	ENSP00000379836:G672V	ENSP00000379836:G672V	G	+	2	0	SLC30A5	68459603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.411000	0.97342	1.458000	0.47871	0.491000	0.48974	GGA	.		0.368	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			T	68423847	G	T	68423847	3	4	27	1	0	0	0	0	1	0	0	0	14603	1174	41	3	2161	3	SLC30A5	5	68423847	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	63214582	68423847	112491413	39	4379											
SLC4A9	83697	hgsc.bcm.edu	37	5	139751848	139751848	+	Missense_Mutation	SNP	C	C	G			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr5:139751848C>G	ENST00000230993.6	+	20	2799	c.2764C>G	c.(2764-2766)Cga>Gga	p.R922G	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R922G|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R898G|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R835G|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R884G|CTC-329D1.2_ENST00000507521.1_RNA	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	922	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.R922*(2)|p.R896*(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGGGTCCGAAAGGCCCT	0.542																																					p.R922G		.											SLC4A9_ENST00000506757,NS,carcinoma,0,2	SLC4A9_ENST00000506757	0	3	Substitution - Nonsense(3)	lung(3)	c.C2764G						.						27	28	28					5																	139751848		1882	4108	5990	SO:0001583	missense	83697	exon20			GGGGTCCGAAAGG	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2764C>G	5.37:g.139751848C>G	ENSP00000230993:p.Arg922Gly	28	0		23	2	NM_001258428	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660244	0.67586	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	4.99	4.09	0.47781	.	0.000000	0.52532	D	0.000069	D	0.91633	0.7356	M	0.87758	2.905	0.58432	D	0.999998	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	D;D;D;D	0.91635	0.968;0.997;0.998;0.999	D	0.92986	0.6410	10	0.87932	D	0	.	14.2128	0.65776	0.1506:0.8494:0.0:0.0	.	835;922;884;898	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	G	922;898;884;835;922	ENSP00000230993:R922G;ENSP00000424424:R898G;ENSP00000410056:R884G;ENSP00000422855:R835G;ENSP00000427661:R922G	ENSP00000230993:R922G	R	+	1	2	SLC4A9	139732032	0.487000	0.25988	1.000000	0.80357	0.997000	0.91878	0.310000	0.19356	1.275000	0.44379	0.557000	0.71058	CGA	.		0.542	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		G	139751848	C	G	139751848	3	3	27	1	0	0	0	0	1	0	0	0	14705	644	23	5	2770	5	SLC4A9	5	139751848	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	71328001	139751848	41163412	40	4380											
PCDHB6	56130	hgsc.bcm.edu	37	5	140530549	140530549	+	Silent	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr5:140530549C>T	ENST00000231136.1	+	1	711	c.711C>T	c.(709-711)aaC>aaT	p.N237N	PCDHB6_ENST00000543635.1_Silent_p.N101N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	237	Cadherin 2. {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.N237K(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)			TCAATGACAACGTCCCCGAGT	0.562																																					p.N237N		.											PCDHB6,NS,carcinoma,0,1	PCDHB6	0	1	Substitution - Missense(1)	lung(1)	c.C711T						.						46	49	48					5																	140530549		2203	4300	6503	SO:0001819	synonymous_variant	56130	exon1			TGACAACGTCCCC	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.711C>T	5.37:g.140530549C>T		37	0		32	3	NM_018939	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																			.		0.562	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		T	140530549	C	T	140530549	2	4	27	1	0	0	0	0	0	0	0	1	11585	535	19	1		1	PCDHB6	5	140530549	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	778701	140530549	40384711	41	4381											
HIST1H3G	8355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	26271507	26271507	+	Missense_Mutation	SNP	C	C	A	rs567908596		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr6:26271507C>A	ENST00000305910.3	-	1	105	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	36					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTTTCTTCACGCCGCCGGTG	0.647																																					p.V36L		.											.	.	.	0			c.G106T						.						35	41	39					6																	26271507		2203	4300	6503	SO:0001583	missense	8355	exon1			TCTTCACGCCGCC	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.106G>T	6.37:g.26271507C>A	ENSP00000439660:p.Val36Leu	48	0		21	14	NM_003534	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	13.46	2.242832	0.39598	.	.	ENSG00000256018	ENST00000305910	T	0.43688	0.94	4.56	3.7	0.42460	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.27307	N	0.957409	.	.	.	.	.	.	T	0.18618	-1.0331	6	0.87932	D	0	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	L	36	ENSP00000439660:V36L	ENSP00000439660:V36L	V	-	1	0	HIST1H3G	26379486	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	5.850000	0.69473	1.064000	0.40671	0.563000	0.77884	GTG	.		0.647	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		A	26271507	C	A	26271507	3	1	27	1	0	0	0	0	1	0	0	0	7188	536	19	2	308	2	HIST1H3G	6	26271507	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09		26271507	144843560	42	4382											
ZNF165	7718	hgsc.bcm.edu	37	6	28053623	28053623	+	Missense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr6:28053623C>A	ENST00000377325.1	+	2	921	c.365C>A	c.(364-366)aCc>aAc	p.T122N		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	122	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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGGCAGTGACCATACTAGAA	0.517																																					p.T122N		.											ZNF165,colon,carcinoma,0,1	ZNF165	0	0			c.C365A						.						68	69	68					6																	28053623		2203	4300	6503	SO:0001583	missense	7718	exon2			CAGTGACCATACT	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.365C>A	6.37:g.28053623C>A	ENSP00000366542:p.Thr122Asn	22	0		15	2	NM_003447		Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397747	0.42512	.	.	ENSG00000197279	ENST00000377325	T	0.06294	3.32	3.06	2.12	0.27331	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.07143	0.0181	M	0.92412	3.305	0.09310	N	1	P	0.44946	0.846	B	0.41666	0.363	T	0.08659	-1.0711	9	0.87932	D	0	.	9.5125	0.39085	0.0:0.7816:0.2184:0.0	.	122	P49910	ZN165_HUMAN	N	122	ENSP00000366542:T122N	ENSP00000366542:T122N	T	+	2	0	ZNF165	28161602	0.003000	0.15002	0.029000	0.17559	0.891000	0.51852	1.084000	0.30828	0.792000	0.33850	0.655000	0.94253	ACC	.		0.517	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		A	28053623	C	A	28053623	3	1	27	1	0	0	0	0	1	0	0	0	17788	507	18	3	367	3	ZNF165	6	28053623	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	1782116	28053623	143061444	43	4383											
HLA-B	3106	hgsc.bcm.edu	37	6	31322910	31322910	+	Missense_Mutation	SNP	G	G	A	rs74189305		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	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		.											HLA-B,NS,carcinoma,-1,4	HLA-B	-1	4	Substitution - Missense(4)	kidney(4)	c.C986T						.						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	51	2		45	8	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	.		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	27	1	0	0	0	0	1	0	0	0	7223	971	34	3	114	3	HLA-B	6	31322910	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	3269287	31322910	139792157	44	4384											
CYP21A2	1590	broad.mit.edu	37	6	31975463	31975463	+	5'Flank	SNP	T	T	C	rs370433041	byFrequency	TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194				.													.	CYP21A2	42	0			.						.																																			SO:0001631	upstream_gene_variant	0	.			CGACTGTAGGAGG																													6.37:g.31975463T>C	Exception_encountered	111	0		51	5	.		RNA	SNP	ENST00000594256.1	37																																																																																				.		0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				C	31975463	T	C	31975463	1	2	27	0	1	0	0	0	0	0	0	0	4162	1651	57	4		4	CYP21A2	6	31975463	5'Flank	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	652553	31975463	139139604	45	4385											
HLA-DQA1	3117	bcgsc.ca	37	6	32609758	32609758	+	Missense_Mutation	SNP	A	A	G			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr6:32609758A>G	ENST00000343139.5	+	3	443	c.341A>G	c.(340-342)gAg>gGg	p.E114G	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.E114G|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.E114G	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	113	Alpha-1.|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						GAGGTTCCTGAGGTCACAGTG	0.507																																					p.E114G													.	HLA-DQA1	52	0			c.A341G						.						118	87	98					6																	32609758		1510	2709	4219	SO:0001583	missense	3117	exon3			TTCCTGAGGTCAC		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.341A>G	6.37:g.32609758A>G	ENSP00000339398:p.Glu114Gly	39	0		25	3	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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.99|12.99	2.103112|2.103112	0.37145|0.37145	.|.	.|.	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.00617|.	6.19;6.19;6.19;6.19|.	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	0.333784|.	0.29040|.	U|.	0.013334|.	T|T	0.60222|0.60222	0.2252|0.2252	H|H	0.95260|0.95260	3.645|3.645	0.24121|0.24121	N|N	0.995809|0.995809	D;D|.	0.76494|.	0.999;0.977|.	D;P|.	0.83275|.	0.996;0.874|.	T|T	0.60895|0.60895	-0.7172|-0.7172	10|5	0.87932|.	D|.	0|.	.|.	7.0408|7.0408	0.25019|0.25019	0.798:0.0:0.0:0.202|0.798:0.0:0.0:0.202	.|.	120;114|.	Q59F33;G4XQK2|.	.;.|.	G|G	114|87	ENSP00000339398:E114G;ENSP00000378767:E114G;ENSP00000437302:E114G;ENSP00000364087:E114G|.	ENSP00000339398:E114G|.	E|R	+|+	2|1	0|2	HLA-DQA1|HLA-DQA1	32717736|32717736	0.998000|0.998000	0.40836|0.40836	0.927000|0.927000	0.36925|0.36925	0.105000|0.105000	0.19272|0.19272	2.032000|2.032000	0.41127|0.41127	1.859000|1.859000	0.53934|0.53934	0.533000|0.533000	0.62120|0.62120	GAG|AGG	.		0.507	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		G	32609758	A	G	32609758	3	3	27	1	0	0	0	0	1	0	0	0	7231	304	11	4	351	4	HLA-DQA1	6	32609758	Missense_Mutation	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	634295	32609758	138505309	46	4386											
KLHL31	401265	hgsc.bcm.edu	37	6	53519100	53519100	+	Missense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr6:53519100C>A	ENST00000407079.1	-	1	970	c.971G>T	c.(970-972)cGc>cTc	p.R324L	KLHL31_ENST00000370905.3_Missense_Mutation_p.R324L			Q9H511	KLH31_HUMAN	kelch-like family member 31	324					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)					AAGGCCTGGGCGTCCCCCAAC	0.478																																					p.R324L		.											KLHL31,NS,carcinoma,0,1	KLHL31	0	0			c.G971T						.						110	104	106					6																	53519100		2203	4300	6503	SO:0001583	missense	401265	exon2			CCTGGGCGTCCCC		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.971G>T	6.37:g.53519100C>A	ENSP00000384644:p.Arg324Leu	30	0		35	2	NM_001003760	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794849	0.70452	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.64618	-0.11;-0.11	5.49	5.49	0.81192	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.55103	1.725	0.80722	D	1	D	0.65815	0.995	P	0.61592	0.891	T	0.61312	-0.7088	10	0.27785	T	0.31	.	19.4094	0.94662	0.0:1.0:0.0:0.0	.	324	Q9H511	KLH31_HUMAN	L	324	ENSP00000359942:R324L;ENSP00000384644:R324L	ENSP00000359942:R324L	R	-	2	0	KLHL31	53627059	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.818000	0.86416	2.583000	0.87209	0.561000	0.74099	CGC	.		0.478	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		A	53519100	C	A	53519100	3	1	27	1	0	0	0	0	1	0	0	0	8412	768	27	2	941	2	KLHL31	6	53519100	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	20909342	53519100	117595967	47	4387											
IBTK	25998	hgsc.bcm.edu;bcgsc.ca	37	6	82920614	82920614	+	Missense_Mutation	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr6:82920614G>A	ENST00000306270.7	-	16	2975	c.2426C>T	c.(2425-2427)gCa>gTa	p.A809V	IBTK_ENST00000510291.1_Missense_Mutation_p.A809V|RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000503631.1_Missense_Mutation_p.A608V	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	809	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		TTCCAGAGCTGCACAACTGGA	0.279																																					p.A809V		.											.	.	.	0			c.C2426T						.						62	69	67					6																	82920614		2202	4289	6491	SO:0001583	missense	25998	exon16			AGAGCTGCACAAC	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.2426C>T	6.37:g.82920614G>A	ENSP00000305721:p.Ala809Val	66	0		49	4	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298140	0.60086	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.66638	-0.22;-0.22;-0.22	5.48	5.48	0.80851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.407029	0.26731	N	0.022796	T	0.45074	0.1324	N	0.10837	0.055	0.30504	N	0.77013	D;B;P;B	0.59357	0.985;0.4;0.575;0.4	P;B;B;B	0.58820	0.846;0.287;0.22;0.287	T	0.43829	-0.9367	10	0.25106	T	0.35	-8.2051	9.3382	0.38062	0.0778:0.1469:0.7753:0.0	.	608;809;809;809	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	V	809;608;809	ENSP00000305721:A809V;ENSP00000422762:A608V;ENSP00000426405:A809V	ENSP00000305721:A809V	A	-	2	0	IBTK	82977333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.110000	0.77069	2.584000	0.87258	0.563000	0.77884	GCA	.		0.279	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		A	82920614	G	A	82920614	3	1	27	1	0	0	0	0	1	0	0	0	7503	1319	46	3	1691	3	IBTK	6	82920614	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	29401514	82920614	88194453	48	4388											
EZR	7430	hgsc.bcm.edu	37	6	159197491	159197491	+	Silent	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr6:159197491G>T	ENST00000367075.3	-	8	912	c.744C>A	c.(742-744)atC>atA	p.I248I	EZR_ENST00000392177.4_Silent_p.I216I|EZR_ENST00000337147.7_Silent_p.I248I	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	248	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with SCYL3.				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)		CATTGAAAGAGATGTTCCTGA	0.373			T	ROS1	NSCLC																																p.I248I		.		Dom	yes		6	6q25.3	7430	ezrin		E	EZR,NS,carcinoma,0,1	EZR	0	0			c.C744A						.						127	125	126					6																	159197491		2203	4300	6503	SO:0001819	synonymous_variant	7430	exon7			GAAAGAGATGTTC	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.744C>A	6.37:g.159197491G>T		44	0		22	2	NM_003379	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	CCDS5258.1																																																																																			.		0.373	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		T	159197491	G	T	159197491	2	4	27	1	0	0	0	0	0	0	0	1	5351	932	33	3		3	EZR	6	159197491	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	76276877	159197491	11917576	49	4389											
TNRC18	84629	broad.mit.edu	37	7	5352833	5352833	+	Silent	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr7:5352833G>A	ENST00000430969.1	-	27	8037	c.7689C>T	c.(7687-7689)agC>agT	p.S2563S	TNRC18_ENST00000399537.4_Silent_p.S2563S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2563	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)		tgccactactgctgctgctgc	0.672																																					p.S2563S													.	TNRC18	311	0			c.C7689T						.						3	5	4					7																	5352833		1128	2739	3867	SO:0001819	synonymous_variant	84629	exon27			ACTACTGCTGCTG	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.7689C>T	7.37:g.5352833G>A		65	0		41	3	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.904535	0.00512	.	.	ENSG00000182095	ENST00000328270	.	.	.	4.38	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8385	0.08905	0.1403:0.149:0.519:0.1916	.	.	.	.	X	377	.	.	Q	-	1	0	TNRC18	5319359	0.004000	0.15560	0.014000	0.15608	0.007000	0.05969	-0.229000	0.09098	-0.173000	0.10761	-1.164000	0.01763	CAG	.		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5352833	G	A	5352833	2	1	27	1	0	0	0	0	0	0	0	1	16386	1310	46	3		3	TNRC18	7	5352833	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		5352833	153785830	50	4390											
GPNMB	10457	bcgsc.ca	37	7	23306191	23306191	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr7:23306191G>T	ENST00000381990.2	+	7	1271	c.1110G>T	c.(1108-1110)caG>caT	p.Q370H	GPNMB_ENST00000539136.1_Missense_Mutation_p.Q259H|GPNMB_ENST00000258733.4_Missense_Mutation_p.Q358H|GPNMB_ENST00000453162.2_Missense_Mutation_p.Q312H	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	370					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)			AAAACTGCCAGATTAACAGAT	0.473																																					p.Q370H													.	GPNMB	88	0			c.G1110T						.						89	78	82					7																	23306191		2203	4300	6503	SO:0001583	missense	10457	exon7			CTGCCAGATTAAC	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.1110G>T	7.37:g.23306191G>T	ENSP00000371420:p.Gln370His	64	0		58	4	NM_001005340	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	0.228	-1.023131	0.02061	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.14266	2.53;2.53;2.52;2.52	5.89	0.722	0.18225	PKD/Chitinase domain (1);	1.125920	0.06485	N	0.733587	T	0.07188	0.0182	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.16166	0.013;0.003;0.016;0.004	B;B;B;B	0.18263	0.021;0.006;0.014;0.002	T	0.44314	-0.9336	10	0.15066	T	0.55	-0.0039	7.1017	0.25340	0.1413:0.0:0.2888:0.5699	.	259;312;370;358	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	H	358;405;370;253;259;312	ENSP00000258733:Q358H;ENSP00000371420:Q370H;ENSP00000445266:Q259H;ENSP00000405586:Q312H	ENSP00000258733:Q358H	Q	+	3	2	GPNMB	23272716	0.944000	0.32072	0.017000	0.16124	0.059000	0.15707	0.112000	0.15479	-0.138000	0.11434	0.650000	0.86243	CAG	.		0.473	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		T	23306191	G	T	23306191	3	4	27	1	0	0	0	0	1	0	0	0	6646	933	33	3	1136	3	GPNMB	7	23306191	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	17953358	23306191	135832472	51	4391											
NFE2L3	9603	hgsc.bcm.edu;bcgsc.ca	37	7	26224962	26224962	+	Silent	SNP	T	T	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr7:26224962T>C	ENST00000056233.3	+	4	1903	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	548					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						TGCATATCCCTTTTTCTGTAG	0.418																																					p.P548P		.											.	.	.	0			c.T1644C						.						125	114	118					7																	26224962		2203	4300	6503	SO:0001819	synonymous_variant	9603	exon4			TATCCCTTTTTCT	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.1644T>C	7.37:g.26224962T>C		110	0		78	4	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	CCDS5396.1																																																																																			.		0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			C	26224962	T	C	26224962	2	2	27	1	0	0	0	0	0	0	0	1	10408	1596	56	4		4	NFE2L3	7	26224962	Silent	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	2918771	26224962	132913701	52	4392											
DDX56	54606	hgsc.bcm.edu	37	7	44611136	44611136	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr7:44611136C>T	ENST00000258772.5	-	6	951	c.845G>A	c.(844-846)aGc>aAc	p.S282N	DDX56_ENST00000431640.1_Missense_Mutation_p.S282N|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	282	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GGTGGGGATGCTGAACTGTTC	0.507																																					p.S282N		.											.	.	.	0			c.G845A						.						73	70	71					7																	44611136		2203	4300	6503	SO:0001583	missense	54606	exon6			GGGATGCTGAACT	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.845G>A	7.37:g.44611136C>T	ENSP00000258772:p.Ser282Asn	55	0		56	4	NM_001257189	A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.208030	0.79240	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.74315	-0.83;3.89	5.93	5.93	0.95920	Helicase, C-terminal (3);	0.118452	0.85682	D	0.000000	T	0.73369	0.3578	L	0.52206	1.635	0.50171	D	0.999856	B;B	0.21147	0.006;0.052	B;B	0.28553	0.009;0.091	T	0.69412	-0.5152	10	0.62326	D	0.03	-21.6302	17.8301	0.88679	0.0:1.0:0.0:0.0	.	282;282	C9JV95;Q9NY93	.;DDX56_HUMAN	N	282	ENSP00000258772:S282N;ENSP00000393488:S282N	ENSP00000258772:S282N	S	-	2	0	DDX56	44577661	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.400000	0.66320	2.814000	0.96858	0.563000	0.77884	AGC	.		0.507	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		T	44611136	C	T	44611136	3	4	27	1	0	0	0	0	1	0	0	0	4383	797	28	3	834	3	DDX56	7	44611136	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	18386174	44611136	114527527	53	4393											
SEMA3D	223117	hgsc.bcm.edu	37	7	84727276	84727276	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr7:84727276G>T	ENST00000284136.6	-	2	200	c.157C>A	c.(157-159)Ctg>Atg	p.L53M	SEMA3D_ENST00000444867.1_Missense_Mutation_p.L53M	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	53	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						TTTGAAAGCAGCAAGTCTATG	0.373																																					p.L53M	Ovarian(63;442 1191 17318 29975 31528)	.											SEMA3D,right_lower_lobe,carcinoma,0,1	SEMA3D	0	0			c.C157A						.						61	65	63					7																	84727276		2203	4300	6503	SO:0001583	missense	223117	exon2			AAAGCAGCAAGTC	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.157C>A	7.37:g.84727276G>T	ENSP00000284136:p.Leu53Met	48	0		26	2	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045848	0.36085	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.25085	1.82;1.82	5.55	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.068958	0.64402	D	0.000012	T	0.38214	0.1032	L	0.45228	1.405	0.44643	D	0.997622	D;D	0.63880	0.993;0.96	P;P	0.62813	0.907;0.708	T	0.09292	-1.0681	10	0.45353	T	0.12	.	11.7154	0.51650	0.1427:0.0:0.8573:0.0	.	53;53	C9JYT6;O95025	.;SEM3D_HUMAN	M	53	ENSP00000284136:L53M;ENSP00000401366:L53M	ENSP00000284136:L53M	L	-	1	2	SEMA3D	84565212	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.046000	0.49846	1.476000	0.48215	0.585000	0.79938	CTG	.		0.373	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		T	84727276	G	T	84727276	3	4	27	1	0	0	0	0	1	0	0	0	14072	962	34	3	2240	3	SEMA3D	7	84727276	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	40116140	84727276	74411387	54	4394											
SH2B2	10603	bcgsc.ca	37	7	101960825	101960825	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr7:101960825G>T	ENST00000536178.1	+	9	1585	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	SH2B2_ENST00000306803.8_Missense_Mutation_p.G474C			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	475	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191, ECO:0000305}.				actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GAACGGCCACGGCCAGTGTCA	0.647																																					.													.	SH2B2	22	0			.						.						66	73	71					7																	101960825		2174	4266	6440	SO:0001583	missense	10603	.			GGCCACGGCCAGT	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	17381	protein-coding gene	gene with protein product	"adaptor protein with pleckstrin homology and src"	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1540G>T	7.37:g.101960825G>T	ENSP00000440273:p.Gly514Cys	41	0		39	4	.	A6ND74	Missense_Mutation	SNP	ENST00000536178.1	37		.	.	.	.	.	.	.	.	.	.	.	26.0	4.699693	0.88830	.	.	ENSG00000160999	ENST00000536178;ENST00000306803	T;T	0.58797	0.31;0.31	4.57	4.57	0.56435	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	H	0.94542	3.55	0.47737	D	0.999501	D	0.89917	1.0	D	0.97110	1.0	D	0.87847	0.2655	9	0.87932	D	0	-41.7132	16.8866	0.86077	0.0:0.0:1.0:0.0	.	475	O14492	SH2B2_HUMAN	C	514;474	ENSP00000440273:G514C;ENSP00000304701:G474C	ENSP00000304701:G474C	G	+	1	0	SH2B2	101747545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.152000	0.94680	2.531000	0.85337	0.655000	0.94253	GGC	.		0.647	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		T	101960825	G	T	101960825	3	4	27	1	0	0	0	0	1	0	0	0	14273	1116	39	2	1314	2	SH2B2	7	101960825	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	17233549	101960825	57177838	55	4395											
C7orf58	79974	hgsc.bcm.edu	37	7	120765873	120765873	+	Splice_Site	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr7:120765873G>T	ENST00000310396.5	+	9	1528		c.e9-1		CPED1_ENST00000450913.2_Splice_Site|CPED1_ENST00000423795.1_Splice_Site	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)		p.?(1)									TTTCATTTTAGATGCAGATTC	0.373																																					.		.											C7orf58,NS,carcinoma,0,1	C7orf58	0	1	Unknown(1)	kidney(1)	c.1062-1G>T						.						188	160	170					7																	120765873		2203	4300	6503	SO:0001630	splice_region_variant	79974	exon9			ATTTTAGATGCAG		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.1062-1G>T	7.37:g.120765873G>T		47	0		21	2	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Splice_Site	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789354	0.70337	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7368	0.91757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf58	120553109	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.095000	0.71439	2.598000	0.87819	0.655000	0.94253	.	.		0.373	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	Intron	T	120765873	G	T	120765873	5	4	27	1	0	0	0	0	0	0	1	0	2412	956	33	3	1091	3	C7orf58	7	120765873	Splice_Site	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	18805048	120765873	38372790	56	4396											
ADAM7	8756	hgsc.bcm.edu	37	8	24300078	24300078	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:24300078G>T	ENST00000175238.6	+	2	228	c.145G>T	c.(145-147)Gat>Tat	p.D49Y	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D49Y|ADAM7_ENST00000441335.2_Missense_Mutation_p.D49Y	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	49						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)		CACCCATGATGATGACATACT	0.423																																					p.D49Y		.											ADAM7,colon,carcinoma,0,1	ADAM7	0	0			c.G145T						.						181	169	173					8																	24300078		2203	4300	6503	SO:0001583	missense	8756	exon2			CATGATGATGACA	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.145G>T	8.37:g.24300078G>T	ENSP00000175238:p.Asp49Tyr	85	0		59	3	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	7.050	0.564286	0.13498	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.29142	2.33;1.58;1.58	4.33	-4.81	0.03180	Peptidase M12B, propeptide (1);	1.596890	0.03673	N	0.244360	T	0.13543	0.0328	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14476	-1.0471	10	0.51188	T	0.08	.	0.8367	0.01141	0.158:0.2512:0.2867:0.3042	.	49;49	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	Y	49	ENSP00000393073:D49Y;ENSP00000175238:D49Y;ENSP00000370166:D49Y	ENSP00000175238:D49Y	D	+	1	0	ADAM7	24356023	0.000000	0.05858	0.000000	0.03702	0.621000	0.37620	-0.680000	0.05197	-0.888000	0.03956	0.557000	0.71058	GAT	.		0.423	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		T	24300078	G	T	24300078	3	4	27	1	0	0	0	0	1	0	0	0	251	1290	45	3	151	3	ADAM7	8	24300078	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		24300078	122063944	57	4397											
GPR124	25960	hgsc.bcm.edu	37	8	37692771	37692771	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:37692771G>T	ENST00000412232.2	+	12	1701	c.1688G>T	c.(1687-1689)aGg>aTg	p.R563M	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	563					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)	p.R556K(1)		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)			GCCTTCCAGAGGAGGGAGGGA	0.672																																					p.R563M		.											GPR124,NS,carcinoma,0,1	GPR124	0	1	Substitution - Missense(1)	lung(1)	c.G1688T						.						47	47	47					8																	37692771		2203	4300	6503	SO:0001583	missense	25960	exon12			TCCAGAGGAGGGA	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.1688G>T	8.37:g.37692771G>T	ENSP00000406367:p.Arg563Met	73	0		47	2	NM_032777	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268364	0.80469	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.58060	0.36	5.34	4.26	0.50523	.	0.202841	0.37304	N	0.002145	T	0.48696	0.1514	L	0.40543	1.245	0.34891	D	0.745558	P	0.52842	0.956	P	0.46975	0.533	T	0.64141	-0.6477	10	0.62326	D	0.03	-27.517	12.4567	0.55708	0.1414:0.0:0.8586:0.0	.	563	Q96PE1	GP124_HUMAN	M	556;563	ENSP00000406367:R563M	ENSP00000406367:R563M	R	+	2	0	GPR124	37811929	0.988000	0.35896	1.000000	0.80357	0.984000	0.73092	1.736000	0.38187	2.507000	0.84556	0.655000	0.94253	AGG	.		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37692771	G	T	37692771	3	4	27	1	0	0	0	0	1	0	0	0	6664	1000	35	3	1713	3	GPR124	8	37692771	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	13392693	37692771	108671251	58	4398											
ADAM9	8754	hgsc.bcm.edu	37	8	38854669	38854669	+	Silent	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:38854669G>T	ENST00000487273.2	+	1	165	c.87G>T	c.(85-87)gcG>gcT	p.A29A	TM2D2_ENST00000412303.1_5'Flank|ADAM9_ENST00000466936.1_Silent_p.A29A|ADAM9_ENST00000481513.1_Silent_p.A29A|TM2D2_ENST00000456397.2_5'Flank|TM2D2_ENST00000522434.1_5'Flank|TM2D2_ENST00000456845.2_5'Flank|TM2D2_ENST00000397070.2_5'Flank	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	29				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	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)			TCCTCGGTGCGGCGCGGCCAG	0.716																																					p.A29A		.											.	.	.	0			c.G87T						.						41	38	39					8																	38854669		2197	4297	6494	SO:0001819	synonymous_variant	8754	exon1			CGGTGCGGCGCGG	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.87G>T	8.37:g.38854669G>T		58	0		22	4	NM_003816	B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	CCDS6112.1																																																																																			.		0.716	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			T	38854669	G	T	38854669	2	4	27	1	0	0	0	0	0	0	0	1	253	1103	39	2		2	ADAM9	8	38854669	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	1161898	38854669	107509353	59	4399											
RP1	6101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	55542175	55542175	+	Silent	SNP	T	T	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:55542175T>C	ENST00000220676.1	+	4	5881	c.5733T>C	c.(5731-5733)taT>taC	p.Y1911Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1911					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)			ATAAACTGTATGCTCTTTGTG	0.393																																					p.Y1911Y	Colon(91;1014 1389 7634 14542 40420)	.											.	.	.	0			c.T5733C						.						95	94	94					8																	55542175		2203	4300	6503	SO:0001819	synonymous_variant	6101	exon4			ACTGTATGCTCTT	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.5733T>C	8.37:g.55542175T>C		41	0		27	10	NM_006269		Silent	SNP	ENST00000220676.1	37	CCDS6160.1																																																																																			.		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		C	55542175	T	C	55542175	2	2	27	1	0	0	0	0	0	0	0	1	13577	1471	51	4		4	RP1	8	55542175	Silent	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	16687506	55542175	90821847	60	4400											
ESRP1	54845	hgsc.bcm.edu;bcgsc.ca	37	8	95655629	95655629	+	Silent	SNP	T	T	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:95655629T>C	ENST00000433389.2	+	3	550	c.360T>C	c.(358-360)ccT>ccC	p.P120P	ESRP1_ENST00000358397.5_Silent_p.P120P|ESRP1_ENST00000454170.2_Silent_p.P120P|ESRP1_ENST00000423620.2_Silent_p.P120P	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	120					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						TCCTGCATCCTGAGGCTTCCA	0.428																																					p.P120P		.											.	.	.	0			c.T360C						.						81	78	79					8																	95655629		1897	4112	6009	SO:0001819	synonymous_variant	54845	exon3			GCATCCTGAGGCT	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.360T>C	8.37:g.95655629T>C		96	0		64	4	NM_001122827	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	CCDS47897.1																																																																																			.		0.428	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		C	95655629	T	C	95655629	2	2	27	1	0	0	0	0	0	0	0	1	5274	1567	55	4		4	ESRP1	8	95655629	Silent	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	40113454	95655629	50708393	61	4401											
FER1L6	654463	broad.mit.edu	37	8	124989685	124989685	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:124989685C>T	ENST00000522917.1	+	10	1105	c.899C>T	c.(898-900)gCt>gTt	p.A300V	FER1L6_ENST00000399018.1_Missense_Mutation_p.A300V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	300	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					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)			AAGAACTGTGCTGATCCTGTG	0.502																																					p.A300V													.	FER1L6	268	0			c.C899T						.						161	159	160					8																	124989685		2060	4208	6268	SO:0001583	missense	654463	exon10			ACTGTGCTGATCC	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.899C>T	8.37:g.124989685C>T	ENSP00000428280:p.Ala300Val	40	0		43	3	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651592	0.67472	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.69040	-0.37;-0.37	5.53	5.53	0.82687	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000004	T	0.74520	0.3727	L	0.33339	1.005	0.52501	D	0.999952	D	0.76494	0.999	D	0.76575	0.988	T	0.70414	-0.4878	10	0.27785	T	0.31	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	300	Q2WGJ9	FR1L6_HUMAN	V	300	ENSP00000428280:A300V;ENSP00000381982:A300V	ENSP00000381982:A300V	A	+	2	0	FER1L6	125058866	0.991000	0.36638	0.957000	0.39632	0.995000	0.86356	2.997000	0.49457	2.608000	0.88229	0.561000	0.74099	GCT	.		0.502	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	124989685	C	T	124989685	3	4	27	1	0	0	0	0	1	0	0	0	5837	797	28	3	933	3	FER1L6	8	124989685	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	29334056	124989685	21374337	62	4402											
DENND3	22898	hgsc.bcm.edu;ucsc.edu	37	8	142160984	142160984	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:142160984G>T	ENST00000262585.2	+	6	825	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	DENND3_ENST00000424248.1_Nonsense_Mutation_p.E183*|DENND3_ENST00000519811.1_Nonsense_Mutation_p.E263*	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	183	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)			AGCAGACCCCGAAAGCCCCAT	0.597																																					p.E183X		.											.	.	.	0			c.G547T						.						123	116	119					8																	142160984		2203	4300	6503	SO:0001587	stop_gained	22898	exon6			GACCCCGAAAGCC	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.547G>T	8.37:g.142160984G>T	ENSP00000262585:p.Glu183*	68	0		43	4	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Nonsense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.93|12.93	2.086952|2.086952	0.36855|0.36855	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	.|.	.|.	.|.	5.4|5.4	4.51|4.51	0.55191|0.55191	.|.	0.295540|.	0.40385|.	N|.	0.001110|.	.|T	.|0.71459	.|0.3342	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74639	.|-0.3598	.|3	0.48119|.	T|.	0.1|.	-10.2397|-10.2397	16.383|16.383	0.83481|0.83481	0.0:0.1322:0.8678:0.0|0.0:0.1322:0.8678:0.0	.|.	.|.	.|.	.|.	X|L	183;183;263;185;284|239	.|.	ENSP00000262585:E183X|.	E|R	+|+	1|2	0|0	DENND3|DENND3	142230166|142230166	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.086000|0.086000	0.17979|0.17979	6.662000|6.662000	0.74426|0.74426	1.389000|1.389000	0.46526|0.46526	0.561000|0.561000	0.74099|0.74099	GAA|CGA	.		0.597	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		T	142160984	G	T	142160984	4	4	27	1	0	0	0	0	0	1	0	0	4446	1059	37	2	565	2	DENND3	8	142160984	Nonsense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	17171299	142160984	4203038	63	4403											
BAI1	575	hgsc.bcm.edu	37	8	143599537	143599537	+	Silent	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr8:143599537C>T	ENST00000517894.1	+	19	3750	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	BAI1_ENST00000323289.5_Silent_p.I952I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	952					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)					TGACGCTCATCGTGGGCTGTG	0.647																																					p.I952I		.											BAI1,NS,carcinoma,0,1	BAI1	0	0			c.C2856T						.						180	181	180					8																	143599537		2203	4298	6501	SO:0001819	synonymous_variant	575	exon18			GCTCATCGTGGGC	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.2856C>T	8.37:g.143599537C>T		34	0		24	2	NM_001702		Silent	SNP	ENST00000517894.1	37																																																																																				.		0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143599537	C	T	143599537	2	4	27	1	0	0	0	0	0	0	0	1	1299	874	31	1		1	BAI1	8	143599537	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	1438553	143599537	2764485	64	4404											
DHTKD1	55526	hgsc.bcm.edu;broad.mit.edu	37	10	12126673	12126673	+	Missense_Mutation	SNP	C	C	T	rs141125831		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:12126673C>T	ENST00000263035.4	+	3	507	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	149					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)	p.R149W(1)		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)			GTTTGCCAAGCGGTTTGAGGA	0.448																																					p.R149W		.											DHTKD1,colon,carcinoma,0,1	DHTKD1	0	1	Substitution - Missense(1)	large_intestine(1)	c.C445T						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	160	163	162		445	-5.9	0.2	10	dbSNP_134	162	0,8600		0,0,4300	no	missense	DHTKD1	NM_018706.5	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	149/920	12126673	1,13005	2203	4300	6503	SO:0001583	missense	55526	exon3			GCCAAGCGGTTTG	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.445C>T	10.37:g.12126673C>T	ENSP00000263035:p.Arg149Trp	78	0		55	3	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655357	0.67586	2.27E-4	0.0	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.15603	2.41;2.41	5.39	-5.95	0.02241	.	0.091412	0.64402	D	0.000001	T	0.38639	0.1048	M	0.77712	2.385	0.42829	D	0.99401	D	0.89917	1.0	D	0.68765	0.96	T	0.58509	-0.7624	10	0.87932	D	0	-13.7078	20.7673	0.99721	0.784:0.216:0.0:0.0	.	149	Q96HY7	DHTK1_HUMAN	W	149	ENSP00000263035:R149W;ENSP00000388163:R149W	ENSP00000263035:R149W	R	+	1	2	DHTKD1	12166679	0.879000	0.30193	0.221000	0.23827	0.987000	0.75469	0.484000	0.22308	-0.625000	0.05604	-0.249000	0.11873	CGG	.		0.448	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		T	12126673	C	T	12126673	3	4	27	1	0	0	0	0	1	0	0	0	4514	759	27	1	455	1	DHTKD1	10	12126673	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09		12126673	123408074	65	4405											
CUBN	8029	hgsc.bcm.edu;bcgsc.ca	37	10	17113484	17113484	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:17113484G>T	ENST00000377833.4	-	19	2631	c.2566C>A	c.(2566-2568)Ctc>Atc	p.L856I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	856	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)	GTGAAGTTGAGGAGAATGACT	0.428																																					p.L856I		.											CUBN,caecum,carcinoma,0,1	CUBN	0	0			c.C2566A						.						87	86	87					10																	17113484		2203	4300	6503	SO:0001583	missense	8029	exon19			AGTTGAGGAGAAT	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.2566C>A	10.37:g.17113484G>T	ENSP00000367064:p.Leu856Ile	102	1		82	4	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416822	0.62511	.	.	ENSG00000107611	ENST00000377833	T	0.30182	1.54	5.23	5.23	0.72850	CUB (5);	0.000000	0.36409	N	0.002614	T	0.52224	0.1721	L	0.56340	1.77	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.48614	-0.9020	10	0.46703	T	0.11	.	18.8527	0.92238	0.0:0.0:1.0:0.0	.	856	O60494	CUBN_HUMAN	I	856	ENSP00000367064:L856I	ENSP00000367064:L856I	L	-	1	0	CUBN	17153490	1.000000	0.71417	0.997000	0.53966	0.316000	0.28119	5.396000	0.66297	2.460000	0.83146	0.502000	0.49764	CTC	.		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	17113484	G	T	17113484	3	4	27	1	0	0	0	0	1	0	0	0	4060	1000	35	3	8501	3	CUBN	10	17113484	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	4986811	17113484	118421263	66	4406											
EPC1	80314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	32576188	32576188	+	Missense_Mutation	SNP	A	A	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:32576188A>T	ENST00000263062.8	-	7	1259	c.990T>A	c.(988-990)gaT>gaA	p.D330E	EPC1_ENST00000375110.2_Missense_Mutation_p.D280E|EPC1_ENST00000319778.6_Missense_Mutation_p.D330E	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	330					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|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)|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 membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTCGGATAAGATCGGCTTTAT	0.418																																					p.D330E		.											.	.	.	0			c.T990A						.						114	101	105					10																	32576188		2203	4300	6503	SO:0001583	missense	80314	exon7			GATAAGATCGGCT	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.990T>A	10.37:g.32576188A>T	ENSP00000263062:p.Asp330Glu	68	0		34	12	NM_025209	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626325	0.28978	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.64618	-0.11;-0.11;-0.11	5.7	3.34	0.38264	.	0.043389	0.85682	D	0.000000	T	0.38214	0.1032	N	0.08118	0	0.39900	D	0.97388	B;B;B;B	0.21147	0.005;0.009;0.004;0.052	B;B;B;B	0.25140	0.023;0.01;0.012;0.058	T	0.09552	-1.0669	10	0.21540	T	0.41	-7.7772	8.5775	0.33607	0.8017:0.1309:0.0674:0.0	.	330;280;330;330	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	E	280;330;330	ENSP00000364251:D280E;ENSP00000318559:D330E;ENSP00000263062:D330E	ENSP00000263062:D330E	D	-	3	2	EPC1	32616194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.798000	0.38814	0.425000	0.26087	0.455000	0.32223	GAT	.		0.418	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			T	32576188	A	T	32576188	3	4	27	1	0	0	0	0	1	0	0	0	5176	330	12	5	1556	5	EPC1	10	32576188	Missense_Mutation	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	15462704	32576188	102958559	67	4407											
KCNMA1	3778	hgsc.bcm.edu	37	10	78704653	78704653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:78704653G>T	ENST00000286628.8	-	23	2779	c.2780C>A	c.(2779-2781)tCa>tAa	p.S927*	KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.S869*|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.S927*|KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.S869*|KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.S910*|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.S930*|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.S931*|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286627.5_Nonsense_Mutation_p.S869*|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	927					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)	CTGATTGGCTGACAGGATAAC	0.433																																					p.S927X		.											.	.	.	0			c.C2780A						.						172	137	149					10																	78704653		2203	4300	6503	SO:0001587	stop_gained	3778	exon23			TTGGCTGACAGGA	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.2780C>A	10.37:g.78704653G>T	ENSP00000286628:p.Ser927*	55	0		57	4	NM_001161352	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Nonsense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.237429|8.237429	0.98719|0.98719	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48223|.	0.1488|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37454|.	-0.9705|.	3|.	.|0.02654	.|T	.|1	-6.4058|-6.4058	19.9196|19.9196	0.97082|0.97082	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	820|869;806;862;901;864;869;869;901;931;930;910;680	.|.	.|ENSP00000286627:S869X	Q|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78374659|78374659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.758000|9.758000	0.98927|0.98927	2.708000|2.708000	0.92522|0.92522	0.650000|0.650000	0.86243|0.86243	CAG|TCA	.		0.433	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		T	78704653	G	T	78704653	4	4	27	1	0	0	0	0	0	1	0	0	8100	1294	45	3	983	3	KCNMA1	10	78704653	Nonsense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	46128465	78704653	56830094	68	4408											
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	79576791	79576791	+	Missense_Mutation	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:79576791G>A	ENST00000372391.2	-	19	3853	c.3848C>T	c.(3847-3849)cCg>cTg	p.P1283L	DLG5_ENST00000372388.2_Missense_Mutation_p.P943L|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1283					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)	p.P1283L(1)		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)			GACACTCCGCGGATATCTTGG	0.502																																					p.P1283L		.											DLG5,NS,carcinoma,0,1	DLG5	0	1	Substitution - Missense(1)	endometrium(1)	c.C3848T						.						185	166	172					10																	79576791		2203	4300	6503	SO:0001583	missense	9231	exon19			CTCCGCGGATATC	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.3848C>T	10.37:g.79576791G>A	ENSP00000361467:p.Pro1283Leu	66	0		43	9	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689510	0.68271	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.06142	3.53;3.34;3.6	5.4	5.4	0.78164	.	0.000000	0.38605	N	0.001621	T	0.19248	0.0462	L	0.43923	1.385	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.442	D;D;B	0.65684	0.937;0.923;0.142	T	0.00182	-1.1946	10	0.72032	D	0.01	.	19.1954	0.93686	0.0:0.0:1.0:0.0	.	1173;1283;943	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	L	1283;244;943	ENSP00000361467:P1283L;ENSP00000394797:P244L;ENSP00000361464:P943L	ENSP00000361464:P943L	P	-	2	0	DLG5	79246797	1.000000	0.71417	0.257000	0.24404	0.031000	0.12232	9.230000	0.95299	2.535000	0.85469	0.650000	0.86243	CCG	.		0.502	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79576791	G	A	79576791	3	1	27	1	0	0	0	0	1	0	0	0	4572	1116	39	1	1967	1	DLG5	10	79576791	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	872138	79576791	55957956	69	4409											
KCNIP2	30819	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	103587678	103587678	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:103587678C>T	ENST00000356640.2	-	8	945	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	KCNIP2_ENST00000343195.4_Missense_Mutation_p.A174T|KCNIP2_ENST00000353068.3_Missense_Mutation_p.A181T|KCNIP2_ENST00000348850.5_Missense_Mutation_p.A179T|KCNIP2_ENST00000370046.1_Missense_Mutation_p.A138T|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000461105.1_Missense_Mutation_p.A239T|KCNIP2_ENST00000358038.3_Missense_Mutation_p.A206T	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	224	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.			A -> P (in Ref. 2; BAA96740/BAA96741). {ECO:0000305}.	clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TCCCTTGGGGCCTCCTCCCGG	0.552																																					p.A239T		.											.	.	.	0			c.G715A						.						112	100	104					10																	103587678		2203	4300	6503	SO:0001583	missense	30819	exon8			TTGGGGCCTCCTC		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.670G>A	10.37:g.103587678C>T	ENSP00000349055:p.Ala224Thr	42	0		16	4	NM_014591	A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435288	0.43224	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.95	4.95	0.65309	EF-hand-like domain (1);	0.108029	0.64402	D	0.000011	T	0.56187	0.1968	N	0.16833	0.445	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.24768	0.035;0.005;0.02;0.012;0.015;0.012;0.111;0.024;0.066;0.018;0.041;0.014;0.035	B;B;B;B;B;B;B;B;B;B;B;B;B	0.32465	0.02;0.052;0.092;0.05;0.084;0.05;0.045;0.025;0.146;0.062;0.042;0.02;0.045	T	0.52749	-0.8534	10	0.02654	T	1	.	18.3765	0.90437	0.0:1.0:0.0:0.0	.	138;179;168;170;174;174;206;181;239;224;155;179;131	Q9NS61-9;B4DW99;B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	T	179;206;155;206;224;138;131;181;239;174;138	ENSP00000239118:A179T;ENSP00000350733:A206T;ENSP00000349055:A224T;ENSP00000359063:A138T;ENSP00000411679:A131T;ENSP00000341624:A181T;ENSP00000420040:A239T;ENSP00000344169:A174T;ENSP00000239117:A138T	ENSP00000239117:A138T	A	-	1	0	KCNIP2	103577668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.912000	0.69948	2.571000	0.86741	0.561000	0.74099	GCC	.		0.552	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			T	103587678	C	T	103587678	3	4	27	1	0	0	0	0	1	0	0	0	8067	739	26	3	201	3	KCNIP2	10	103587678	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	24010887	103587678	31947069	70	4410											
TCF7L2	6934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	114901068	114901068	+	Silent	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:114901068C>A	ENST00000355995.4	+	6	1185	c.678C>A	c.(676-678)ccC>ccA	p.P226P	TCF7L2_ENST00000534894.1_Silent_p.P226P|TCF7L2_ENST00000369397.4_Silent_p.P203P|TCF7L2_ENST00000543371.1_Silent_p.P226P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_Silent_p.P226P|TCF7L2_ENST00000545257.1_Silent_p.P226P|TCF7L2_ENST00000369389.1_5'Flank|TCF7L2_ENST00000538897.1_Silent_p.P226P|TCF7L2_ENST00000352065.5_Silent_p.P203P|TCF7L2_ENST00000369395.1_Silent_p.P251P|TCF7L2_ENST00000355717.4_Silent_p.P250P|TCF7L2_ENST00000536810.1_Silent_p.P226P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	226	Mediates interaction with MAD2L2.|Pro-rich.			P -> L (in Ref. 4; ADK35180). {ECO:0000305}.	blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACGTAGACCCCAAAACAGGTA	0.597			T	VTI1A	colorectal																																p.P250P		.		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	.	0			c.C750A						.						106	91	96					10																	114901068		2203	4300	6503	SO:0001819	synonymous_variant	6934	exon6			AGACCCCAAAACA	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.678C>A	10.37:g.114901068C>A		62	0		46	18	NM_001146283	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37																																																																																				.		0.597	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		A	114901068	C	A	114901068	2	1	27	1	0	0	0	0	0	0	0	1	15745	581	21	3		3	TCF7L2	10	114901068	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	11313390	114901068	20633679	71	4411											
PTPRE	5791	hgsc.bcm.edu	37	10	129861358	129861358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr10:129861358G>T	ENST00000254667.3	+	10	916	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	PTPRE_ENST00000419012.2_Nonsense_Mutation_p.E213*|PTPRE_ENST00000306042.5_Nonsense_Mutation_p.E155*|PTPRE_ENST00000430713.2_3'UTR	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	213	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)	p.E213K(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)	TCCCAAACAGGAAACGGTTAA	0.522																																					p.E213X	Colon(52;977 1184 20575 41685)	.											PTPRE,rectum,carcinoma,0,1	PTPRE	0	1	Substitution - Missense(1)	large_intestine(1)	c.G637T						.						96	87	90					10																	129861358		2203	4300	6503	SO:0001587	stop_gained	5791	exon10			AAACAGGAAACGG	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.637G>T	10.37:g.129861358G>T	ENSP00000254667:p.Glu213*	55	0		41	2	NM_006504	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Nonsense_Mutation	SNP	ENST00000254667.3	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	39	7.745269	0.98465	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	.	.	.	4.38	4.38	0.52667	.	0.062472	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4948	0.84237	0.0:0.0:1.0:0.0	.	.	.	.	X	213;191;213;155	.	ENSP00000254667:E213X	E	+	1	0	PTPRE	129751348	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.378000	0.97191	2.433000	0.82419	0.563000	0.77884	GAA	.		0.522	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			T	129861358	G	T	129861358	4	4	27	1	0	0	0	0	0	1	0	0	12845	1175	41	3	706	3	PTPRE	10	129861358	Nonsense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	14960290	129861358	5673389	72	4412											
PDDC1	347862	hgsc.bcm.edu	37	11	775135	775135	+	Silent	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr11:775135C>A	ENST00000319863.8	-	2	93	c.72G>T	c.(70-72)tcG>tcT	p.S24S	PDDC1_ENST00000524550.1_Silent_p.S24S|PDDC1_ENST00000526325.1_Silent_p.S24S|PDDC1_ENST00000529966.1_Intron|PDDC1_ENST00000397472.2_Silent_p.S24S|AP006621.5_ENST00000530083.1_5'Flank|PDDC1_ENST00000442059.2_Intron	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	24						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		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;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACTGGGCCGACACACCTG	0.652																																					p.S24S		.											PDDC1,NS,carcinoma,0,1	PDDC1	0	0			c.G72T						.						76	66	70					11																	775135		2197	4292	6489	SO:0001819	synonymous_variant	347862	exon2			CTGGGCCGACACA	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.72G>T	11.37:g.775135C>A		115	0		47	2	NM_182612	B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	CCDS7713.1																																																																																			.		0.652	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		A	775135	C	A	775135	2	1	27	1	0	0	0	0	0	0	0	1	11668	639	23	2		2	PDDC1	11	775135	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09		775135	134231381	73	4413											
MRVI1	10335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	10597943	10597943	+	Missense_Mutation	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr11:10597943G>A	ENST00000436272.1	-	20	2672	c.2594C>T	c.(2593-2595)tCg>tTg	p.S865L	MRVI1_ENST00000558540.1_Missense_Mutation_p.S577L|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.S883L|MRVI1_ENST00000531107.1_Missense_Mutation_p.S884L|MRVI1_ENST00000423302.2_Missense_Mutation_p.S892L|MRVI1_ENST00000541483.1_Missense_Mutation_p.S686L|MRVI1_ENST00000547195.1_Missense_Mutation_p.S801L|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.S801L|MRVI1_ENST00000424001.1_Missense_Mutation_p.S577L|MRVI1_ENST00000527509.2_Missense_Mutation_p.S801L|MRVI1_ENST00000545852.1_Missense_Mutation_p.S577L|MRVI1_ENST00000534266.2_Missense_Mutation_p.S577L			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	865					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)		CTGGGCTGCCGAGCAAGTGGA	0.572																																					p.S892L		.											.	.	.	0			c.C2675T						.						73	75	74					11																	10597943		2005	4161	6166	SO:0001583	missense	10335	exon21			GCTGCCGAGCAAG	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.2594C>T	11.37:g.10597943G>A	ENSP00000412229:p.Ser865Leu	34	0		12	6	NM_130385	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.089806	0.94149	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000050	T	0.50922	0.1644	L	0.57536	1.79	0.46586	D	0.999119	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.99;0.998;0.998;0.996	T	0.46624	-0.9178	10	0.87932	D	0	-9.0927	19.7158	0.96119	0.0:0.0:1.0:0.0	.	686;865;884;883	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	L	883;866;865;801;801;577;577;892;686;884;801	ENSP00000414598:S883L;ENSP00000412229:S865L;ENSP00000448278:S801L;ENSP00000446764:S801L;ENSP00000441971:S577L;ENSP00000401205:S577L;ENSP00000412130:S892L;ENSP00000437784:S686L;ENSP00000432436:S884L;ENSP00000432067:S801L	ENSP00000307885:S866L	S	-	2	0	MRVI1	10554519	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	6.752000	0.74898	2.757000	0.94681	0.655000	0.94253	TCG	.		0.572	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		A	10597943	G	A	10597943	3	1	27	1	0	0	0	0	1	0	0	0	9891	1059	37	1	67	1	MRVI1	11	10597943	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	9822808	10597943	124408573	74	4414											
TMEM216	51259	hgsc.bcm.edu	37	11	61161386	61161386	+	Missense_Mutation	SNP	T	T	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr11:61161386T>C	ENST00000515837.2	+	3	1112	c.167T>C	c.(166-168)cTa>cCa	p.L56P	TMEM216_ENST00000334888.5_Missense_Mutation_p.L56P|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	56					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						ACAGCTAACCTAGTACTGGAT	0.438																																					p.L56P		.											.	.	.	0			c.T167C						.						159	158	158					11																	61161386		1958	4145	6103	SO:0001583	missense	51259	exon3			CTAACCTAGTACT		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"cerebello-oculo-renal syndrome 2", "Meckel syndrome, type 2"	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.167T>C	11.37:g.61161386T>C	ENSP00000440638:p.Leu56Pro	71	0		51	4	NM_001173990	A8MZ23|B7Z8N1	Missense_Mutation	SNP	ENST00000515837.2	37	CCDS53640.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024169	0.54683	.	.	ENSG00000187049	ENST00000515837;ENST00000334888	D;D	0.89875	-2.58;-2.58	5.95	5.95	0.96441	.	.	.	.	.	D	0.94437	0.8210	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94863	0.8023	9	0.66056	D	0.02	.	13.9469	0.64091	0.0:0.0:0.0:1.0	.	49	Q9P0N5	TM216_HUMAN	P	56	ENSP00000440638:L56P;ENSP00000334844:L56P	ENSP00000334844:L56P	L	+	2	0	TMEM216	60917962	0.995000	0.38212	0.474000	0.27266	0.126000	0.20510	5.347000	0.65998	2.279000	0.76181	0.533000	0.62120	CTA	.		0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499		C	61161386	T	C	61161386	3	2	27	1	0	0	0	0	1	0	0	0	16186	1522	53	4	177	4	TMEM216	11	61161386	Missense_Mutation	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	50563443	61161386	73845130	75	4415											
SLC35F2	54733	hgsc.bcm.edu	37	11	107686612	107686612	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr11:107686612C>T	ENST00000525815.1	-	2	610	c.190G>A	c.(190-192)Gca>Aca	p.A64T	SLC35F2_ENST00000525071.1_Missense_Mutation_p.A64T|SLC35F2_ENST00000375682.4_Missense_Mutation_p.A17T|SLC35F2_ENST00000429869.1_Missense_Mutation_p.A64T|SLC35F2_ENST00000265836.7_Intron	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	64					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TATCTTTCTGCCAAATACTGG	0.398																																					p.A64T		.											.,1	.	29	0			c.G190A						.						130	125	127					11																	107686612		1911	4122	6033	SO:0001583	missense	54733	exon2			TTTCTGCCAAATA		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.190G>A	11.37:g.107686612C>T	ENSP00000436785:p.Ala64Thr	93	0		45	2	NM_017515	Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	37	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515096	0.85389	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000375682;ENST00000429869	.	.	.	5.82	4.91	0.64330	.	0.048331	0.85682	D	0.000000	T	0.75095	0.3803	M	0.65975	2.015	0.80722	D	1	P;P	0.50617	0.568;0.937	P;P	0.61722	0.627;0.893	T	0.76479	-0.2944	9	0.49607	T	0.09	.	15.1009	0.72276	0.0:0.932:0.0:0.068	.	64;64	E9PJD1;Q8IXU6	.;S35F2_HUMAN	T	64;64;17;64	.	ENSP00000364834:A17T	A	-	1	0	SLC35F2	107191822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.465000	0.53064	1.464000	0.47987	0.650000	0.86243	GCA	.		0.398	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		T	107686612	C	T	107686612	3	4	27	1	0	0	0	0	1	0	0	0	14634	739	26	3	962	3	SLC35F2	11	107686612	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	46525226	107686612	27319904	76	4416											
APOA4	337	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	116691593	116691593	+	Missense_Mutation	SNP	A	A	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr11:116691593A>C	ENST00000357780.3	-	3	1295	c.1181T>G	c.(1180-1182)tTg>tGg	p.L394W		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	394					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)		TCAGCTCTCCAAAGGGGCCAG	0.612																																					p.L394W		.											.	.	.	0			c.T1181G						.						50	48	49					11																	116691593		2201	4296	6497	SO:0001583	missense	337	exon3			CTCTCCAAAGGGG		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.1181T>G	11.37:g.116691593A>C	ENSP00000350425:p.Leu394Trp	75	0		53	17	NM_000482	A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401985	0.42613	.	.	ENSG00000110244	ENST00000357780	T	0.80033	-1.33	4.75	3.64	0.41730	.	0.468236	0.15779	N	0.245042	T	0.75421	0.3847	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.63625	-0.6595	10	0.87932	D	0	-6.9083	6.3168	0.21194	0.8916:0.0:0.1084:0.0	.	394	P06727	APOA4_HUMAN	W	394	ENSP00000350425:L394W	ENSP00000350425:L394W	L	-	2	0	APOA4	116196803	0.000000	0.05858	0.104000	0.21259	0.281000	0.26958	-0.267000	0.08619	2.080000	0.62538	0.455000	0.32223	TTG	.		0.612	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		C	116691593	A	C	116691593	3	2	27	1	0	0	0	0	1	0	0	0	783	131	5	4	13	4	APOA4	11	116691593	Missense_Mutation	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	9004981	116691593	18314923	77	4417											
ATN1	1822	ucsc.edu	37	12	7045885	7045885	+	Silent	SNP	A	A	G	rs370414886|rs201442555		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:7045885A>G	ENST00000356654.4	+	5	1692	c.1455A>G	c.(1453-1455)caA>caG	p.Q485Q	ATN1_ENST00000396684.2_Silent_p.Q485Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	485	Poly-Gln.		Missing. {ECO:0000269|PubMed:7485154, ECO:0000269|PubMed:7842016, ECO:0000269|PubMed:8965642}.		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						ACCACcagcaacagcaacagc	0.627																																					p.Q485Q													.	ATN1	95	0			c.A1455G						.						79	94	89					12																	7045885		2203	4300	6503	SO:0001819	synonymous_variant	1822	exon5			CCAGCAACAGCAA	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.1455A>G	12.37:g.7045885A>G		74	7		46	8	NM_001007026	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			.		0.627	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		G	7045885	A	G	7045885	2	3	27	1	0	0	0	0	0	0	0	1	1112	40	2	4		4	ATN1	12	7045885	Silent	SNP	A	TCGA-YR-A95A-01A-12D-A417-09		7045885	126806010	78	4418											
PZP	5858	hgsc.bcm.edu	37	12	9356365	9356365	+	Splice_Site	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:9356365G>T	ENST00000261336.2	-	2	294	c.266C>A	c.(265-267)aCt>aAt	p.T89N	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	89					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)	p.T89I(1)		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						AGCACTCACAGTGAAGGAGAC	0.512																																					p.T89N	Melanoma(125;1402 1695 4685 34487 38571)	.											PZP,NS,carcinoma,0,1	PZP	0	1	Substitution - Missense(1)	ovary(1)	c.C266A						.						91	76	81					12																	9356365		2203	4300	6503	SO:0001630	splice_region_variant	5858	exon2			CTCACAGTGAAGG	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.267+1C>A	12.37:g.9356365G>T		74	0		35	2	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	6.497	0.459816	0.12342	.	.	ENSG00000126838	ENST00000261336	T	0.08370	3.1	2.08	2.08	0.27032	.	0.413883	0.15949	U	0.236816	T	0.15739	0.0379	M	0.83953	2.67	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.05683	-1.0870	10	0.31617	T	0.26	.	7.7209	0.28731	0.0:0.0:1.0:0.0	.	89	P20742	PZP_HUMAN	N	89	ENSP00000261336:T89N	ENSP00000261336:T89N	T	-	2	0	PZP	9247632	0.025000	0.19082	0.927000	0.36925	0.114000	0.19823	-0.026000	0.12392	1.491000	0.48482	0.467000	0.42956	ACT	.		0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Missense_Mutation	T	9356365	G	T	9356365	5	4	27	1	0	0	0	0	0	0	1	0	12914	1043	36	3	4322	3	PZP	12	9356365	Splice_Site	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	2310480	9356365	124495530	79	4419											
TAS2R20	259295	hgsc.bcm.edu	37	12	11150167	11150167	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:11150167C>T	ENST00000538986.1	-	1	307	c.308G>A	c.(307-309)aGc>aAc	p.S103N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	103					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S103I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATAAAATATGCTGAGGCTAGT	0.358																																					p.S103N		.											TAS2R20,NS,carcinoma,0,1	TAS2R20	0	1	Substitution - Missense(1)	lung(1)	c.G308A						.						81	87	85					12																	11150167		2203	4300	6503	SO:0001583	missense	259295	exon1			AATATGCTGAGGC	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.308G>A	12.37:g.11150167C>T	ENSP00000441624:p.Ser103Asn	53	0		38	2	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442323	0.25987	.	.	ENSG00000255837	ENST00000538986	T	0.52526	0.66	2.77	2.77	0.32553	.	0.295625	0.26796	U	0.022445	T	0.62514	0.2434	M	0.78344	2.41	0.21416	N	0.999699	D	0.58620	0.983	P	0.59357	0.856	T	0.55522	-0.8128	10	0.87932	D	0	.	11.2764	0.49170	0.0:1.0:0.0:0.0	.	103	P59543	T2R20_HUMAN	N	103	ENSP00000441624:S103N	ENSP00000441624:S103N	S	-	2	0	TAS2R20	11041434	0.161000	0.22892	0.047000	0.18901	0.063000	0.16089	0.558000	0.23469	1.561000	0.49584	0.591000	0.81541	AGC	.		0.358	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		T	11150167	C	T	11150167	3	4	27	1	0	0	0	0	1	0	0	0	15618	797	28	3	625	3	TAS2R20	12	11150167	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	1793802	11150167	122701728	80	4420											
TMTC1	83857	hgsc.bcm.edu	37	12	29786213	29786213	+	Missense_Mutation	SNP	A	A	G			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:29786213A>G	ENST00000539277.1	-	6	1053	c.995T>C	c.(994-996)gTg>gCg	p.V332A	TMTC1_ENST00000256062.5_Missense_Mutation_p.V224A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.V286A|TMTC1_ENST00000551659.1_Missense_Mutation_p.V394A|TMTC1_ENST00000552618.1_Missense_Mutation_p.V394A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	332						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCACAGGGTCACGGGTGCAAG	0.498																																					p.V332A		.											TMTC1,NS,carcinoma,-1,1	TMTC1	-1	0			c.T995C						.						107	91	97					12																	29786213		2203	4300	6503	SO:0001583	missense	83857	exon6			AGGGTCACGGGTG		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.995T>C	12.37:g.29786213A>G	ENSP00000442046:p.Val332Ala	45	0		48	2	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	.	4.133	0.023042	0.08006	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.53	5.53	0.82687	Domain of unknown function DUF1736 (1);	0.511988	0.21019	N	0.081549	T	0.22282	0.0537	N	0.04746	-0.17	0.09310	N	1	B;B;P	0.35107	0.015;0.0;0.484	B;B;B	0.31614	0.009;0.002;0.133	T	0.12041	-1.0563	9	.	.	.	-11.9906	14.4869	0.67624	1.0:0.0:0.0:0.0	.	286;332;394	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	A	95;224;394;394;332;286	ENSP00000256062:V224A;ENSP00000448112:V394A;ENSP00000449043:V394A;ENSP00000442046:V332A;ENSP00000370622:V286A	.	V	-	2	0	TMTC1	29677480	0.643000	0.27269	0.784000	0.31847	0.979000	0.70002	5.388000	0.66249	2.096000	0.63516	0.533000	0.62120	GTG	.		0.498	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		G	29786213	A	G	29786213	3	3	27	1	0	0	0	0	1	0	0	0	16307	159	6	4	1705	4	TMTC1	12	29786213	Missense_Mutation	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	18636046	29786213	104065682	81	4421											
KRT8	3856	hgsc.bcm.edu	37	12	53294404	53294404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:53294404C>A	ENST00000552551.1	-	5	1090	c.658G>T	c.(658-660)Gag>Tag	p.E220*	KRT8_ENST00000552150.1_Nonsense_Mutation_p.E248*|KRT8_ENST00000293308.6_Nonsense_Mutation_p.E220*|KRT8_ENST00000546897.1_Nonsense_Mutation_p.E220*			P05787	K2C8_HUMAN	keratin 8	220	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)	AAGTTGATCTCGTCGGTCAGC	0.572																																					p.E248X		.											KRT8,NS,lymphoid_neoplasm,0,1	KRT8	0	0			c.G742T						.						106	104	105					12																	53294404		2203	4300	6503	SO:0001587	stop_gained	3856	exon5			TGATCTCGTCGGT	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.658G>T	12.37:g.53294404C>A	ENSP00000447566:p.Glu220*	31	0		16	3	NM_001256282	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Nonsense_Mutation	SNP	ENST00000552551.1	37	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	C	36	5.806311	0.96967	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000547176;ENST00000548998;ENST00000546900	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.6987	0.85343	0.0:1.0:0.0:0.0	.	.	.	.	X	220;220;220;220;248;220;50;260;103	.	ENSP00000293308:E220X	E	-	1	0	KRT8	51580671	1.000000	0.71417	0.947000	0.38551	0.434000	0.31775	6.087000	0.71362	2.453000	0.82957	0.313000	0.20887	GAG	.		0.572	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		A	53294404	C	A	53294404	4	1	27	1	0	0	0	0	0	1	0	0	8520	893	31	2	813	2	KRT8	12	53294404	Nonsense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	23508191	53294404	80557491	82	4422											
ATP5G2	517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	54063070	54063070	+	Missense_Mutation	SNP	C	C	T	rs13819		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:54063070C>T	ENST00000549164.1	-	4	360	c.173G>A	c.(172-174)aGc>aAc	p.S58N	ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000602871.1_Missense_Mutation_p.S58N|ATP5G2_ENST00000394349.3_Missense_Mutation_p.S115N|ATP5G2_ENST00000338662.5_Missense_Mutation_p.S74N			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	58			S -> I (in dbSNP:rs13819).		ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGTTTGGAAGCTGCGGCTAGA	0.532																																					p.S115N		.											.	.	.	0			c.G344A						.						55	52	53					12																	54063070		2203	4300	6503	SO:0001583	missense	517	exon4			TGGAAGCTGCGGC	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	842	protein-coding gene	gene with protein product		603193	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.173G>A	12.37:g.54063070C>T	ENSP00000447317:p.Ser58Asn	58	0		42	10	NM_005176	B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	37		.	.	.	.	.	.	.	.	.	.	C	14.06	2.421314	0.42918	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.24350	1.86;1.91;1.9	5.26	4.37	0.52481	.	0.389447	0.31233	N	0.008001	T	0.31167	0.0788	L	0.51914	1.62	0.23636	N	0.997233	P;P;D	0.56287	0.568;0.73;0.975	B;B;P	0.53185	0.193;0.359;0.72	T	0.09818	-1.0657	10	0.37606	T	0.19	-1.1773	7.3662	0.26774	0.0:0.7553:0.0:0.2447	.	58;74;115	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	N	115;58;74	ENSP00000377878:S115N;ENSP00000447317:S58N;ENSP00000340315:S74N	ENSP00000340315:S74N	S	-	2	0	ATP5G2	52349337	0.018000	0.18449	0.999000	0.59377	0.920000	0.55202	0.884000	0.28214	1.610000	0.50200	-0.126000	0.14955	AGC	.		0.532	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		T	54063070	C	T	54063070	3	4	27	1	0	0	0	0	1	0	0	0	1155	797	28	3	260	3	ATP5G2	12	54063070	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	768666	54063070	79788825	83	4423											
ESYT1	23344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	56524868	56524868	+	Silent	SNP	A	A	G			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:56524868A>G	ENST00000394048.5	+	4	876	c.612A>G	c.(610-612)aaA>aaG	p.K204K	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Silent_p.K204K|ESYT1_ENST00000541590.1_Silent_p.K204K	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	204	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				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						GTCAGAGAAAAGAGCAGATCC	0.507																																					p.K204K		.											.	.	.	0			c.A612G						.						174	160	165					12																	56524868		2203	4300	6503	SO:0001819	synonymous_variant	23344	exon4			GAGAAAAGAGCAG	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.612A>G	12.37:g.56524868A>G		55	0		33	14	NM_015292	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	CCDS8904.1																																																																																			.		0.507	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		G	56524868	A	G	56524868	2	3	27	1	0	0	0	0	0	0	0	1	5280	69	3	4		4	ESYT1	12	56524868	Silent	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	2461798	56524868	77327027	84	4424											
MDM2	4193	hgsc.bcm.edu	37	12	69229765	69229765	+	Splice_Site	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:69229765G>T	ENST00000350057.5	+	7	747		c.e7+1		MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Splice_Site|MDM2_ENST00000356290.4_Splice_Site|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Splice_Site|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Splice_Site|MDM2_ENST00000540827.1_Splice_Site|MDM2_ENST00000258148.7_Splice_Site|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Splice_Site|MDM2_ENST00000360430.2_Splice_Site|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Splice_Site			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase						cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGATGATGAGGTAGTATTTTT	0.294			A		"sarcoma, glioma, colorectal, other"																																.		.		Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	.	.	.	0			c.840+1G>T						.						106	97	100					12																	69229765		1805	4071	5876	SO:0001630	splice_region_variant	4193	exon9			GATGAGGTAGTAT		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.747+1G>T	12.37:g.69229765G>T		112	0		90	4	NM_002392	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Splice_Site	SNP	ENST00000350057.5	37		.	.	.	.	.	.	.	.	.	.	G	16.86	3.239000	0.58995	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000543323;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430;ENST00000348801	.	.	.	4.59	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6435	0.68742	0.0:0.0:0.8528:0.1472	.	.	.	.	.	-1	.	.	.	+	.	.	MDM2	67516032	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	6.002000	0.70693	1.215000	0.43411	0.460000	0.39030	.	.		0.294	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	Intron	T	69229765	G	T	69229765	5	4	27	1	0	0	0	0	0	0	1	0	9451	1275	44	3	875	3	MDM2	12	69229765	Splice_Site	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	12704897	69229765	64622130	85	4425											
LRRC43	254050	bcgsc.ca	37	12	122685442	122685442	+	Silent	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:122685442G>T	ENST00000339777.4	+	10	1798	c.1770G>T	c.(1768-1770)gtG>gtT	p.V590V	B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Silent_p.V405V|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	590										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)		ACTTCGGCGTGGTCCGCACAT	0.687																																					p.V590V													LRRC43_ENST00000339777,colon,carcinoma,0,2	LRRC43	105	0			c.G1770T						.						32	38	36					12																	122685442		2089	4209	6298	SO:0001819	synonymous_variant	254050	exon10			CGGCGTGGTCCGC	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.1770G>T	12.37:g.122685442G>T		67	0		51	4	NM_001098519	Q6ZVT9	Silent	SNP	ENST00000339777.4	37	CCDS45001.1																																																																																			.		0.687	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		T	122685442	G	T	122685442	2	4	27	1	0	0	0	0	0	0	0	1	9036	1335	47	3		3	LRRC43	12	122685442	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	53455677	122685442	11166453	86	4426											
NCOR2	9612	ucsc.edu	37	12	124839411	124839411	+	Silent	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr12:124839411C>T	ENST00000405201.1	-	25	3456	c.3456G>A	c.(3454-3456)ctG>ctA	p.L1152L	NCOR2_ENST00000404121.2_Silent_p.L713L|NCOR2_ENST00000404621.1_Silent_p.L1142L|NCOR2_ENST00000429285.2_Silent_p.L1142L|NCOR2_ENST00000356219.3_Silent_p.L1159L|NCOR2_ENST00000397355.1_Silent_p.L1143L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1160					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)		TGGGCAGGGGCAGCCCCATGG	0.677																																					p.L1152L													.	NCOR2	475	0			c.G3456A						.						44	50	48					12																	124839411		1956	4141	6097	SO:0001819	synonymous_variant	9612	exon27			CAGGGGCAGCCCC	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.3456G>A	12.37:g.124839411C>T		35	0		33	4	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																			.		0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		T	124839411	C	T	124839411	2	4	27	1	0	0	0	0	0	0	0	1	10275	697	25	3		3	NCOR2	12	124839411	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	2153969	124839411	9012484	87	4427											
FLT3	2322	hgsc.bcm.edu	37	13	28610128	28610128	+	Silent	SNP	C	C	A	rs573741842		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr13:28610128C>A	ENST00000241453.7	-	11	1443	c.1362G>T	c.(1360-1362)tcG>tcT	p.S454S	FLT3_ENST00000537084.1_Silent_p.S454S|FLT3_ENST00000380982.4_Silent_p.S454S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	454					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)	GGTATCCATCCGAGAAACAGG	0.453			"Mis, O"		"AML, ALL"																																p.S454S		.		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	FLT3,NS,carcinoma,-1,1	FLT3	-1	0			c.G1362T						.						206	198	200					13																	28610128		2203	4300	6503	SO:0001819	synonymous_variant	2322	exon11			TCCATCCGAGAAA	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.1362G>T	13.37:g.28610128C>A		42	0		29	2	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	CCDS31953.1																																																																																			.		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			A	28610128	C	A	28610128	2	1	27	1	0	0	0	0	0	0	0	1	5964	639	23	2		2	FLT3	13	28610128	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09		28610128	86559750	88	4428											
MYCBP2	23077	bcgsc.ca	37	13	77818052	77818052	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr13:77818052C>T	ENST00000544440.2	-	16	2319	c.2302G>A	c.(2302-2304)Gct>Act	p.A768T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A768T|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A806T|MYCBP2_ENST00000360084.5_5'UTR					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)		CCACACACAGCACAACCAGAT	0.393																																					p.A806T													.	MYCBP2	1029	0			c.G2416A						.						110	97	101					13																	77818052		2203	4300	6503	SO:0001583	missense	23077	exon16			ACACAGCACAACC	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.2302G>A	13.37:g.77818052C>T	ENSP00000444596:p.Ala768Thr	62	0		48	4	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	16.12	3.033227	0.54896	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28069	1.63;1.63;1.63	5.57	5.57	0.84162	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.069365	0.64402	D	0.000012	T	0.23965	0.0580	N	0.20986	0.625	0.41388	D	0.987593	B	0.27823	0.19	B	0.27608	0.081	T	0.05835	-1.0861	10	0.15952	T	0.53	.	19.5546	0.95338	0.0:1.0:0.0:0.0	.	768	O75592	MYCB2_HUMAN	T	768;806;768	ENSP00000349892:A768T;ENSP00000384288:A806T;ENSP00000444596:A768T	ENSP00000349892:A768T	A	-	1	0	MYCBP2	76716053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.893000	0.63199	2.622000	0.88805	0.655000	0.94253	GCT	.		0.393	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		T	77818052	C	T	77818052	3	4	27	1	0	0	0	0	1	0	0	0	10056	710	25	3	11892	3	MYCBP2	13	77818052	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	49207924	77818052	37351826	89	4429											
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr14:19553567G>A	ENST00000409832.3	+	1	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602																																					p.D51N													.	POTEG	118	0			c.G151A						.						101	139	126					14																	19553567		2198	4286	6484	SO:0001583	missense	404785	exon1			CACGACGATTCTG		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.151G>A	14.37:g.19553567G>A	ENSP00000386971:p.Asp51Asn	372	0		258	24	NM_001005356	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.515679	0.27123	.	.	ENSG00000222036	ENST00000409832	T	0.39997	1.05	.	.	.	.	.	.	.	.	T	0.48572	0.1507	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.68353	0.957	T	0.34304	-0.9834	7	0.36615	T	0.2	.	.	.	.	.	51	Q6S5H5	POTEG_HUMAN	N	51	ENSP00000386971:D51N	ENSP00000386971:D51N	D	+	1	0	POTEG	18623567	0.001000	0.12720	0.010000	0.14722	0.010000	0.07245	0.488000	0.22371	0.162000	0.19483	0.165000	0.16767	GAT	.		0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553567	G	A	19553567	3	1	27	1	0	0	0	0	1	0	0	0	12305	1058	37	1	153	1	POTEG	14	19553567	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		19553567	87795973	90	4430											
KIAA0391	9692	hgsc.bcm.edu	37	14	35593125	35593125	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr14:35593125G>T	ENST00000557565.1	+	2	1055	c.674G>T	c.(673-675)aGa>aTa	p.R225I	KIAA0391_ENST00000603588.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R225I|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R225I|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R225I|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R130I|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R130I	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	225					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)		p.R225T(1)		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)		CATTCAGACAGATGGAGAGAA	0.373																																					p.R225I		.											KIAA0391,NS,carcinoma,0,1	KIAA0391	0	1	Substitution - Missense(1)	endometrium(1)	c.G674T						.						45	45	45					14																	35593125		2202	4299	6501	SO:0001583	missense	9692	exon2			CAGACAGATGGAG	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.674G>T	14.37:g.35593125G>T	ENSP00000454657:p.Arg225Ile	60	0		46	2	NM_014672	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401440	0.62288	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121	T;T;T	0.54071	0.63;0.59;0.6	5.21	3.36	0.38483	.	0.150202	0.42548	D	0.000694	T	0.63212	0.2492	M	0.74881	2.28	0.53688	D	0.999972	D;D	0.62365	0.991;0.991	D;D	0.64042	0.914;0.921	T	0.60949	-0.7161	10	0.21014	T	0.42	-8.9114	7.2129	0.25943	0.1365:0.0:0.7103:0.1533	.	225;225	O15091-2;O15091	.;MRRP3_HUMAN	I	130;130;225;225;225	ENSP00000250377:R130I;ENSP00000324697:R225I;ENSP00000440915:R225I	ENSP00000250377:R130I	R	+	2	0	KIAA0391	34662876	0.995000	0.38212	1.000000	0.80357	0.700000	0.40528	4.422000	0.59854	1.173000	0.42796	0.557000	0.71058	AGA	.		0.373	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		T	35593125	G	T	35593125	3	4	27	1	0	0	0	0	1	0	0	0	8199	942	33	3	676	3	KIAA0391	14	35593125	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	16039558	35593125	71756415	91	4431											
INSM2	84684	hgsc.bcm.edu	37	14	36004201	36004201	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr14:36004201C>T	ENST00000307169.3	+	1	954	c.743C>T	c.(742-744)gCg>gTg	p.A248V		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	248					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)	p.A248E(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GAGCCCGGAGCGCCGTCCCGG	0.642																																					p.A248V		.											INSM2,NS,carcinoma,0,1	INSM2	0	1	Substitution - Missense(1)	lung(1)	c.C743T						.																																			SO:0001583	missense	84684	exon1			CCGGAGCGCCGTC	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.743C>T	14.37:g.36004201C>T	ENSP00000306523:p.Ala248Val	57	0		34	2	NM_032594	A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214355	0.09810	.	.	ENSG00000168348	ENST00000307169	T	0.00902	5.56	4.32	4.32	0.51571	.	.	.	.	.	T	0.01092	0.0036	L	0.38175	1.15	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.45425	-0.9262	9	0.38643	T	0.18	-17.7356	8.0317	0.30470	0.0:0.8909:0.0:0.1091	.	248	Q96T92	INSM2_HUMAN	V	248	ENSP00000306523:A248V	ENSP00000306523:A248V	A	+	2	0	INSM2	35073952	0.000000	0.05858	0.092000	0.20876	0.220000	0.24768	0.411000	0.21115	2.212000	0.71576	0.563000	0.77884	GCG	.		0.642	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			T	36004201	C	T	36004201	3	4	27	1	0	0	0	0	1	0	0	0	7799	768	27	1	745	1	INSM2	14	36004201	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	411076	36004201	71345339	92	4432											
SOCS4	122809	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	55510680	55510680	+	Silent	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr14:55510680C>T	ENST00000395472.2	+	2	1253	c.921C>T	c.(919-921)acC>acT	p.T307T	SOCS4_ENST00000555846.1_Silent_p.T307T|SOCS4_ENST00000339298.2_Silent_p.T307T	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	307	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CAGAGGGTACCTTTTTACTTC	0.423																																					p.T307T		.											.	.	.	0			c.C921T						.						121	121	121					14																	55510680		2203	4300	6503	SO:0001819	synonymous_variant	122809	exon2			GGGTACCTTTTTA	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.921C>T	14.37:g.55510680C>T		68	0		52	23	NM_080867		Silent	SNP	ENST00000395472.2	37	CCDS9722.1																																																																																			.		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			T	55510680	C	T	55510680	2	4	27	1	0	0	0	0	0	0	0	1	14961	668	24	3		3	SOCS4	14	55510680	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	19506479	55510680	51838860	93	4433											
KIAA0317	9870	broad.mit.edu	37	14	75137486	75137486	+	Missense_Mutation	SNP	G	G	T	rs375792805		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr14:75137486G>T	ENST00000356357.4	-	13	2102	c.1587C>A	c.(1585-1587)ttC>ttA	p.F529L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	529	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										TGTTGTCACTGAACCGGGTGA	0.453																																					p.F529L													.	KIAA0317	68	0			c.C1587A						.						94	92	92					14																	75137486		1899	4130	6029	SO:0001583	missense	9870	exon13			GTCACTGAACCGG	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.1587C>A	14.37:g.75137486G>T	ENSP00000348714:p.Phe529Leu	54	0		43	3	NM_001039479	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554214	0.86231	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.56611	0.45;0.45	5.87	4.06	0.47325	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.79693	2.465	0.80722	D	1	D;B	0.56035	0.974;0.382	D;P	0.67725	0.953;0.449	T	0.71048	-0.4705	10	0.49607	T	0.09	.	11.2687	0.49124	0.2014:0.0:0.7986:0.0	.	529;529	O15033-2;O15033	.;K0317_HUMAN	L	529;368;368	ENSP00000348714:F529L;ENSP00000452101:F368L	ENSP00000348714:F529L	F	-	3	2	KIAA0317	74207239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.501000	0.53325	0.833000	0.34828	0.655000	0.94253	TTC	.		0.453	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		T	75137486	G	T	75137486	3	4	27	1	0	0	0	0	1	0	0	0	8194	1281	45	3	916	3	KIAA0317	14	75137486	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	19626806	75137486	32212054	94	4434											
KCNK13	56659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	90650699	90650699	+	Silent	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr14:90650699C>T	ENST00000282146.4	+	2	1020	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	193					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)				GGAAGCCCTCCGTGTACTACG	0.627																																					p.S193S		.											.	.	.	0			c.C579T						.						134	114	121					14																	90650699		2203	4300	6503	SO:0001819	synonymous_variant	56659	exon2			GCCCTCCGTGTAC	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.579C>T	14.37:g.90650699C>T		27	0		20	7	NM_022054	B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	CCDS9889.1																																																																																			.		0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		T	90650699	C	T	90650699	2	4	27	1	0	0	0	0	0	0	0	1	8088	639	23	1		1	KCNK13	14	90650699	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	15513213	90650699	16698841	95	4435											
DMXL2	23312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	51766722	51766722	+	Silent	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr15:51766722C>T	ENST00000251076.5	-	28	7316	c.7029G>A	c.(7027-7029)ttG>ttA	p.L2343L	DMXL2_ENST00000543779.2_Silent_p.L2344L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L1707L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2343						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)		CTTCACATAGCAAAATGTTCA	0.378																																					p.L2344L		.											.	.	.	0			c.G7032A						.						83	80	81					15																	51766722		2196	4293	6489	SO:0001819	synonymous_variant	23312	exon28			ACATAGCAAAATG	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.7029G>A	15.37:g.51766722C>T		59	0		47	15	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																			.		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51766722	C	T	51766722	2	4	27	1	0	0	0	0	0	0	0	1	4609	709	25	3		3	DMXL2	15	51766722	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09		51766722	50764670	96	4436											
KIAA1370	56204	hgsc.bcm.edu;bcgsc.ca	37	15	52874470	52874470	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr15:52874470G>T	ENST00000261844.7	-	13	3264	c.3112C>A	c.(3112-3114)Cat>Aat	p.H1038N	FAM214A_ENST00000546305.2_Missense_Mutation_p.H1045N|RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1038																	ACGTCTCTATGGAGGTAGATC	0.363																																					p.H1038N		.											.	.	.	0			c.C3112A						.						69	63	65					15																	52874470		1815	4078	5893	SO:0001583	missense	56204	exon13			CTCTATGGAGGTA	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.3112C>A	15.37:g.52874470G>T	ENSP00000261844:p.His1038Asn	67	0		55	4	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449760	0.63290	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.40476	1.03;1.03	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	T	0.62666	-0.6806	10	0.87932	D	0	.	12.2201	0.54429	0.0823:0.0:0.9177:0.0	.	1045;1038	F5H8G0;Q32MH5	.;K1370_HUMAN	N	1038;1038;1045	ENSP00000261844:H1038N;ENSP00000443598:H1045N	ENSP00000261844:H1038N	H	-	1	0	KIAA1370	50661762	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.428000	0.80296	2.413000	0.81919	0.446000	0.29264	CAT	.		0.363	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		T	52874470	G	T	52874470	3	4	27	1	0	0	0	0	1	0	0	0	8253	1348	47	3	122	3	KIAA1370	15	52874470	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	1107748	52874470	49656922	97	4437											
KIAA1024	23251	broad.mit.edu	37	15	79750676	79750676	+	Silent	SNP	G	G	A	rs139072268		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr15:79750676G>A	ENST00000305428.3	+	2	2262	c.2187G>A	c.(2185-2187)tcG>tcA	p.S729S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	729						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						TCTCCAACTCGCCCAGAGACT	0.507																																					p.S729S													.	KIAA1024	146	0			c.G2187A						.	G		1,4391	2.1+/-5.4	0,1,2195	79	76	77		2187	-8.2	0.9	15	dbSNP_134	77	0,8586		0,0,4293	no	coding-synonymous	KIAA1024	NM_015206.2		0,1,6488	AA,AG,GG		0.0,0.0228,0.0077		729/917	79750676	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	23251	exon2			CAACTCGCCCAGA	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.2187G>A	15.37:g.79750676G>A		56	0		42	3	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																			G|1.000;A|0.000		0.507	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		A	79750676	G	A	79750676	2	1	27	1	0	0	0	0	0	0	0	1	8232	1074	38	1		1	KIAA1024	15	79750676	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	26876206	79750676	22780716	98	4438											
ZNF500	26048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	4802537	4802537	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr16:4802537C>T	ENST00000219478.6	-	6	1582	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Missense_Mutation_p.R428H			O60304	ZN500_HUMAN	zinc finger protein 500	428					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						GTGCGTCCGGCGGTGGGCGCT	0.692																																					p.R428H		.											.	.	.	0			c.G1283A						.						16	18	17					16																	4802537		2179	4274	6453	SO:0001583	missense	26048	exon6			GTCCGGCGGTGGG	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.1283G>A	16.37:g.4802537C>T	ENSP00000219478:p.Arg428His	31	0		32	10	NM_021646	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054434	0.55218	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.37584	3.3;1.19	3.93	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33309	N	0.005058	T	0.41305	0.1153	L	0.39633	1.23	0.09310	N	1	D;D	0.71674	0.996;0.998	P;D	0.64042	0.747;0.921	T	0.10086	-1.0645	10	0.45353	T	0.12	.	6.5182	0.22260	0.0:0.6674:0.0:0.3326	.	428;428	B4DNN9;O60304	.;ZN500_HUMAN	H	428	ENSP00000445714:R428H;ENSP00000219478:R428H	ENSP00000219478:R428H	R	-	2	0	ZNF500	4742538	0.000000	0.05858	0.620000	0.29132	0.775000	0.43874	-1.567000	0.02146	0.642000	0.30620	0.561000	0.74099	CGC	.		0.692	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		T	4802537	C	T	4802537	3	4	27	1	0	0	0	0	1	0	0	0	17996	768	27	1	163	1	ZNF500	16	4802537	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09		4802537	85552216	99	4439											
TXNDC11	51061	hgsc.bcm.edu	37	16	11785750	11785750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr16:11785750C>T	ENST00000356957.3	-	9	1484	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*	TXNDC11_ENST00000283033.5_Nonsense_Mutation_p.W432*|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	459					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						AGAAGGAGTGCCACTGGGGCA	0.632																																					p.W432X		.											.	.	.	0			c.G1296A						.						46	42	44					16																	11785750		2197	4300	6497	SO:0001587	stop_gained	51061	exon8			GGAGTGCCACTGG	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.1377G>A	16.37:g.11785750C>T	ENSP00000349439:p.Trp459*	30	0		29	4	NM_015914	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Nonsense_Mutation	SNP	ENST00000356957.3	37		.	.	.	.	.	.	.	.	.	.	C	37	6.472741	0.97594	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	.	.	.	5.53	3.49	0.39957	.	0.286198	0.32258	N	0.006356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5302	8.5294	0.33324	0.1511:0.7651:0.0:0.0838	.	.	.	.	X	459;432	.	ENSP00000283033:W432X	W	-	3	0	TXNDC11	11693251	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	2.031000	0.41117	0.611000	0.30052	0.561000	0.74099	TGG	.		0.632	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		T	11785750	C	T	11785750	4	4	27	1	0	0	0	0	0	1	0	0	16841	740	26	3	1600	3	TXNDC11	16	11785750	Nonsense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	6983213	11785750	78569003	100	4440											
HEATR3	55027	ucsc.edu;bcgsc.ca	37	16	50118142	50118142	+	Silent	SNP	T	T	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr16:50118142T>C	ENST00000299192.7	+	9	1421	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	HEATR3_ENST00000285767.4_Silent_p.S324S|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	410										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGCTGTTTTCTCCCCTCTGCC	0.493																																					p.S410S													.	HEATR3	59	0			c.T1230C						.						132	124	126					16																	50118142		2198	4300	6498	SO:0001819	synonymous_variant	55027	exon9			GTTTTCTCCCCTC	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1230T>C	16.37:g.50118142T>C		62	0		35	4	NM_182922	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Silent	SNP	ENST00000299192.7	37	CCDS10739.1																																																																																			.		0.493	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		C	50118142	T	C	50118142	2	2	27	1	0	0	0	0	0	0	0	1	7056	1538	54	4		4	HEATR3	16	50118142	Silent	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	38332392	50118142	40236611	101	4441											
PLA2G15	23659	hgsc.bcm.edu	37	16	68289247	68289247	+	Missense_Mutation	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr16:68289247G>A	ENST00000219345.5	+	4	549	c.466G>A	c.(466-468)Gtc>Atc	p.V156I	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.V156I|RP11-96D1.7_ENST00000569843.1_RNA|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Missense_Mutation_p.M103I	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	156					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.V156F(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGAGGATGTCCGAGGGGC	0.567																																					p.V156I		.											PLA2G15,ear,carcinoma,0,1	PLA2G15	0	1	Substitution - Missense(1)	skin(1)	c.G466A						.						59	59	59					16																	68289247		2198	4300	6498	SO:0001583	missense	23659	exon4			GAGGATGTCCGAG	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.466G>A	16.37:g.68289247G>A	ENSP00000219345:p.Val156Ile	40	0		37	2	NM_012320	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	CCDS10864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.257120|2.257120	0.39896|0.39896	.|.	.|.	ENSG00000103066|ENSG00000103066	ENST00000413021|ENST00000219345	D|D	0.95918|0.96619	-3.85|-4.07	5.2|5.2	4.25|4.25	0.50352|0.50352	.|.	.|0.229770	.|0.44483	.|N	.|0.000449	D|D	0.91821|0.91821	0.7412|0.7412	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	B|P;B	0.10296|0.34934	0.003|0.476;0.008	B|B;B	0.09377|0.32393	0.004|0.145;0.015	D|D	0.89221|0.89221	0.3571|0.3571	8|10	.|0.22706	.|T	.|0.39	-9.6194|-9.6194	10.8142|10.8142	0.46564|0.46564	0.1542:0.0:0.8458:0.0|0.1542:0.0:0.8458:0.0	.|.	103|156;156	B4DUD1|B4DJW4;Q8NCC3	.|.;PAG15_HUMAN	I|I	103|156	ENSP00000394197:M103I|ENSP00000219345:V156I	.|ENSP00000219345:V156I	M|V	+|+	3|1	0|0	PLA2G15|PLA2G15	66846748|66846748	0.984000|0.984000	0.35163|0.35163	0.931000|0.931000	0.37212|0.37212	0.995000|0.995000	0.86356|0.86356	1.862000|1.862000	0.39448|0.39448	1.430000|1.430000	0.47334|0.47334	0.655000|0.655000	0.94253|0.94253	ATG|GTC	.		0.567	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		A	68289247	G	A	68289247	3	1	27	1	0	0	0	0	1	0	0	0	12031	1377	48	3	480	3	PLA2G15	16	68289247	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	18171105	68289247	22065506	102	4442											
RFWD3	55159	bcgsc.ca	37	16	74685875	74685875	+	Missense_Mutation	SNP	C	C	T	rs375666291		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr16:74685875C>T	ENST00000361070.4	-	3	761	c.664G>A	c.(664-666)Gca>Aca	p.A222T	RFWD3_ENST00000571750.1_Missense_Mutation_p.A222T	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	222					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)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCATACTCTGCAGAGCTGTCA	0.468																																					p.A222T													.	RFWD3	49	0			c.G664A						.	C	THR/ALA	0,4396		0,0,2198	116	112	113		664	-2.5	0.7	16		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	RFWD3	NM_018124.3	58	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	222/775	74685875	1,12995	2198	4300	6498	SO:0001583	missense	55159	exon3			ACTCTGCAGAGCT	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.664G>A	16.37:g.74685875C>T	ENSP00000354361:p.Ala222Thr	66	0		45	4	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	2.391	-0.339794	0.05243	0.0	1.16E-4	ENSG00000168411	ENST00000361070	T	0.18016	2.24	5.93	-2.46	0.06461	.	1.697160	0.02996	N	0.147526	T	0.06142	0.0159	N	0.02391	-0.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31166	-0.9953	10	0.11794	T	0.64	-11.562	6.1385	0.20247	0.1177:0.417:0.0:0.4653	.	222	Q6PCD5	RFWD3_HUMAN	T	222	ENSP00000354361:A222T	ENSP00000354361:A222T	A	-	1	0	RFWD3	73243376	0.000000	0.05858	0.714000	0.30535	0.141000	0.21300	-0.512000	0.06313	-0.176000	0.10707	-0.827000	0.03088	GCA	.		0.468	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		T	74685875	C	T	74685875	3	4	27	1	0	0	0	0	1	0	0	0	13306	710	25	3	1704	3	RFWD3	16	74685875	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	6396628	74685875	15668878	103	4443											
NLRP1	22861	bcgsc.ca	37	17	5462653	5462653	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr17:5462653G>T	ENST00000572272.1	-	4	1362	c.1363C>A	c.(1363-1365)Ctg>Atg	p.L455M	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.L455M|NLRP1_ENST00000269280.4_Missense_Mutation_p.L455M|NLRP1_ENST00000262467.5_Missense_Mutation_p.L455M|NLRP1_ENST00000345221.3_Missense_Mutation_p.L455M|NLRP1_ENST00000577119.1_Missense_Mutation_p.L455M			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	455	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)				GCCGTGATCAGGAAGGATGCC	0.587																																					p.L455M													.	NLRP1	358	0			c.C1363A						.						41	42	41					17																	5462653		2203	4300	6503	SO:0001583	missense	22861	exon4			TGATCAGGAAGGA	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.1363C>A	17.37:g.5462653G>T	ENSP00000460475:p.Leu455Met	32	0		18	3	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522400	0.44866	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	4.45	0.0635	0.14349	NACHT nucleoside triphosphatase (1);	0.306880	0.18203	N	0.148447	D	0.89181	0.6642	M	0.82823	2.61	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.995;0.999;0.999	D;D;D;D;D	0.68943	0.935;0.935;0.936;0.935;0.961	T	0.78568	-0.2154	10	0.51188	T	0.08	.	3.4608	0.07532	0.2964:0.0:0.5263:0.1773	.	455;455;455;455;455	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	M	455	ENSP00000442029:L455M;ENSP00000262467:L455M;ENSP00000269280:L455M;ENSP00000346390:L455M;ENSP00000324366:L455M	ENSP00000262467:L455M	L	-	1	2	NLRP1	5403377	0.396000	0.25262	0.000000	0.03702	0.025000	0.11179	0.292000	0.19011	-0.016000	0.14127	0.650000	0.86243	CTG	.		0.587	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		T	5462653	G	T	5462653	3	4	27	1	0	0	0	0	1	0	0	0	10510	991	35	3	3189	3	NLRP1	17	5462653	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		5462653	75732557	104	4444											
B9D1	27077	broad.mit.edu	37	17	19251158	19251158	+	Missense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr17:19251158C>A	ENST00000261499.4	-	4	423	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	B9D1_ENST00000395616.3_Missense_Mutation_p.V94L|B9D1_ENST00000477478.2_Missense_Mutation_p.M69I|B9D1_ENST00000268841.6_Missense_Mutation_p.V94L|B9D1_ENST00000395615.1_Missense_Mutation_p.V94L|B9D1_ENST00000575403.1_Missense_Mutation_p.M69I|B9D1_ENST00000461069.2_Missense_Mutation_p.V94L	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	94	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				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)					TTCCCGAACACATCTGGTCCA	0.622																																					p.M113I													.	B9D1	8	0			c.G339T						.						122	75	91					17																	19251158		2203	4300	6503	SO:0001583	missense	27077	exon4			CGAACACATCTGG	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.280G>T	17.37:g.19251158C>A	ENSP00000261499:p.Val94Leu	29	0		21	3	NM_001243473	Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	C	7.624	0.677479	0.14841	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.28	-1.15	0.09709	.	0.456980	0.24377	N	0.039052	T	0.49541	0.1563	L	0.49640	1.575	0.18873	N	0.999983	B	0.06786	0.001	B	0.10450	0.005	T	0.30475	-0.9977	10	0.11182	T	0.66	.	6.2221	0.20687	0.1241:0.5018:0.0:0.3741	.	94	Q9UPM9	B9D1_HUMAN	L	94;94;94;94;85	ENSP00000378977:V94L;ENSP00000261499:V94L;ENSP00000378978:V94L;ENSP00000268841:V94L;ENSP00000410835:V85L	ENSP00000261499:V94L	V	-	1	0	B9D1	19191751	0.003000	0.15002	0.165000	0.22776	0.963000	0.63663	0.036000	0.13819	-0.027000	0.13873	-0.215000	0.12644	GTG	.		0.622	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		A	19251158	C	A	19251158	3	1	27	1	0	0	0	0	1	0	0	0	1278	478	17	3	350	3	B9D1	17	19251158	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	13788505	19251158	61944052	105	4445											
CPD	1362	hgsc.bcm.edu	37	17	28750570	28750570	+	Silent	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr17:28750570G>T	ENST00000225719.4	+	6	1780	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	CPD_ENST00000543464.2_Silent_p.V321V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	568	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.V568V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GAAATGAAGTGGTTGGAAGAG	0.358																																					p.V568V		.											CPD,NS,carcinoma,0,1	CPD	0	1	Substitution - coding silent(1)	kidney(1)	c.G1704T						.						136	130	132					17																	28750570		2203	4300	6503	SO:0001819	synonymous_variant	1362	exon6			TGAAGTGGTTGGA	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1704G>T	17.37:g.28750570G>T		97	0		65	3	NM_001304	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	CCDS11257.1																																																																																			.		0.358	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		T	28750570	G	T	28750570	2	4	27	1	0	0	0	0	0	0	0	1	3805	1335	47	3		3	CPD	17	28750570	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	9499412	28750570	52444640	106	4446											
RUNDC3A	10900	hgsc.bcm.edu	37	17	42392345	42392345	+	Silent	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr17:42392345C>T	ENST00000426726.3	+	6	871	c.597C>T	c.(595-597)atC>atT	p.I199I	RUNDC3A_ENST00000590941.1_Silent_p.I194I|RUNDC3A_ENST00000225441.7_Silent_p.I199I|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	199	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)		CCGTGGTCATCGATTACACGC	0.647																																					p.I199I	Pancreas(82;1061 1416 11136 20771 23901)	.											RUNDC3A_ENST00000225441,NS,carcinoma,0,2	RUNDC3A_ENST00000225441	0	0			c.C597T						.						70	76	74					17																	42392345		1960	4137	6097	SO:0001819	synonymous_variant	10900	exon6			GGTCATCGATTAC	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.597C>T	17.37:g.42392345C>T		75	0		48	2	NM_001144825	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	CCDS45698.1																																																																																			.		0.647	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		T	42392345	C	T	42392345	2	4	27	1	0	0	0	0	0	0	0	1	13789	874	31	1		1	RUNDC3A	17	42392345	Silent	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	13641775	42392345	38802865	107	4447											
CDC27	996	hgsc.bcm.edu	37	17	45249328	45249328	+	Missense_Mutation	SNP	G	G	A	rs142853734		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr17:45249328G>A	ENST00000066544.3	-	3	299	c.206C>T	c.(205-207)cCg>cTg	p.P69L	CDC27_ENST00000531206.1_Missense_Mutation_p.P69L|CDC27_ENST00000446365.2_Intron|CDC27_ENST00000527547.1_Missense_Mutation_p.P69L|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	69					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						TTTGCATTGCGGTGTAGTACA	0.358																																					p.P69L		.											CDC27_ENST00000531206,NS,haematopoietic_neoplasm,0,2	CDC27_ENST00000531206	0	0			c.C206T						.						42	42	42					17																	45249328		2202	4300	6502	SO:0001583	missense	996	exon3			CATTGCGGTGTAG	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.206C>T	17.37:g.45249328G>A	ENSP00000066544:p.Pro69Leu	40	0		37	2	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916798	0.92249	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.69	4.7	0.59300	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81389	0.4812	L	0.57536	1.79	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.992	P;P;P	0.57425	0.742;0.803;0.82	T	0.78183	-0.2303	10	0.19147	T	0.46	-28.2366	13.6664	0.62398	0.0:0.0:0.844:0.156	.	69;69;69	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	L	69	ENSP00000066544:P69L;ENSP00000434614:P69L;ENSP00000437339:P69L;ENSP00000432105:P69L	ENSP00000066544:P69L	P	-	2	0	CDC27	42604327	1.000000	0.71417	0.906000	0.35671	0.977000	0.68977	9.568000	0.98166	1.376000	0.46267	0.591000	0.81541	CCG	.		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			A	45249328	G	A	45249328	3	1	27	1	0	0	0	0	1	0	0	0	3073	1116	39	1	2354	1	CDC27	17	45249328	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	2856983	45249328	35945882	108	4448											
RPTOR	57521	broad.mit.edu	37	17	78727809	78727809	+	Splice_Site	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr17:78727809G>T	ENST00000306801.3	+	6	1016		c.e6-1		RPTOR_ENST00000537330.1_Splice_Site|RPTOR_ENST00000544334.2_Splice_Site|RPTOR_ENST00000575542.1_Splice_Site|RPTOR_ENST00000570891.1_Splice_Site	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1						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						CTGCCCTTCAGGTAGCTGCAA	0.498																																					.													.	RPTOR	122	0			c.655-1G>T						.						195	189	191					17																	78727809		2203	4300	6503	SO:0001630	splice_region_variant	57521	exon6			CCTTCAGGTAGCT		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.655-1G>T	17.37:g.78727809G>T		39	0		33	3	NM_001163034	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Splice_Site	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810783	0.50421	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9662	0.92697	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPTOR	76342404	1.000000	0.71417	0.943000	0.38184	0.376000	0.30014	7.776000	0.85560	2.472000	0.83506	0.655000	0.94253	.	.		0.498	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	Intron	T	78727809	G	T	78727809	5	4	27	1	0	0	0	0	0	0	1	0	13710	1014	35	3	676	3	RPTOR	17	78727809	Splice_Site	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	33478481	78727809	2467401	109	4449											
TMEM146	257062	hgsc.bcm.edu	37	19	5768201	5768201	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:5768201G>T	ENST00000381624.3	+	18	1643	c.1582G>T	c.(1582-1584)Ggc>Tgc	p.G528C	CATSPERD_ENST00000381614.2_Missense_Mutation_p.G186C|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	528					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)											CTGTTCCATGGGCATCCTGGA	0.522																																					p.G528C		.											TMEM146,caecum,carcinoma,0,1	TMEM146	0	0			c.G1582T						.						83	82	82					19																	5768201		2058	4197	6255	SO:0001583	missense	257062	exon18			TCCATGGGCATCC	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.1582G>T	19.37:g.5768201G>T	ENSP00000371037:p.Gly528Cys	29	0		27	2	NM_152784	Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646970	0.47258	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.41065	1.01;1.01	3.44	3.44	0.39384	.	0.141481	0.31636	N	0.007309	T	0.58047	0.2095	M	0.62723	1.935	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.46105	-0.9215	10	0.87932	D	0	-29.5079	10.7432	0.46166	0.0:0.0:1.0:0.0	.	454;528	B7WNK5;Q86XM0	.;TM146_HUMAN	C	454;528;186;199;197	ENSP00000371037:G528C;ENSP00000371027:G186C	ENSP00000310546:G199C	G	+	1	0	TMEM146	5719201	0.023000	0.18921	0.043000	0.18650	0.006000	0.05464	1.237000	0.32695	2.221000	0.72209	0.549000	0.68633	GGC	.		0.522	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		T	5768201	G	T	5768201	3	4	27	1	0	0	0	0	1	0	0	0	16107	1232	43	3	1652	3	TMEM146	19	5768201	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		5768201	53360782	110	4450											
C19orf59	199675	bcgsc.ca	37	19	7741979	7741979	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:7741979G>T	ENST00000333598.3	+	1	466	c.12G>T	c.(10-12)gaG>gaT	p.E4D	C19orf59_ENST00000597445.1_5'UTR|CTD-3214H19.16_ENST00000597959.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		4						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						TGGAAGTGGAGGAAATCTACA	0.552																																					p.E4D													.	C19orf59	15	0			c.G12T						.						47	34	39					19																	7741979		2202	4300	6502	SO:0001583	missense	199675	exon1			AGTGGAGGAAATC																												ENST00000333598.3:c.12G>T	19.37:g.7741979G>T	ENSP00000329920:p.Glu4Asp	68	0		56	4	NM_174918	Q8IX20	Missense_Mutation	SNP	ENST00000333598.3	37	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010662	0.54361	.	.	ENSG00000183019	ENST00000333598	T	0.27720	1.65	3.93	1.77	0.24775	.	1.533070	0.04590	N	0.396510	T	0.33265	0.0857	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.57324	0.818	T	0.20140	-1.0284	10	0.39692	T	0.17	-0.332	4.4813	0.11767	0.1146:0.0:0.6638:0.2216	.	4	Q8IX19	MCEM1_HUMAN	D	4	ENSP00000329920:E4D	ENSP00000329920:E4D	E	+	3	2	C19orf59	7647979	0.001000	0.12720	0.007000	0.13788	0.078000	0.17371	0.061000	0.14366	0.595000	0.29777	0.555000	0.69702	GAG	.		0.552	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			T	7741979	G	T	7741979	3	4	27	1	0	0	0	0	1	0	0	0	1947	991	35	3	14	3	C19orf59	19	7741979	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	1973778	7741979	51387004	111	4451											
ANO8	57719	bcgsc.ca	37	19	17435833	17435833	+	Silent	SNP	A	A	G			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:17435833A>G	ENST00000159087.4	-	17	3182	c.3024T>C	c.(3022-3024)ccT>ccC	p.P1008P		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1008					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGCAGGGGGAGGCCGGGTGG	0.642																																					p.P1008P													ANO8,caecum,carcinoma,0,1	ANO8	67	0			c.T3024C						.						59	76	71					19																	17435833		2203	4299	6502	SO:0001819	synonymous_variant	57719	exon17			AGGGGGAGGCCGG	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3024T>C	19.37:g.17435833A>G		64	3		50	7	NM_020959	A6NIJ0	Silent	SNP	ENST00000159087.4	37	CCDS32949.1																																																																																			.		0.642	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		G	17435833	A	G	17435833	2	3	27	1	0	0	0	0	0	0	0	1	703	291	11	4		4	ANO8	19	17435833	Silent	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	9693854	17435833	41693150	112	4452											
LOC729991-MEF2B	100271849	hgsc.bcm.edu	37	19	19261516	19261516	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:19261516C>T	ENST00000602424.2	-	4	755	c.29G>A	c.(28-30)cGc>cAc	p.R10H	MEF2B_ENST00000409447.2_Missense_Mutation_p.R10H|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R27H|MEF2B_ENST00000162023.5_Missense_Mutation_p.R10H|MEF2B_ENST00000409224.1_Missense_Mutation_p.R10H|MEF2B_ENST00000410050.1_Missense_Mutation_p.R10H|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R10H|MEF2B_ENST00000424583.2_Missense_Mutation_p.R10H|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	10	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)	p.R10H(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)			GTCCAGGATGCGGGAGATCTG	0.557																																					p.R10H		.											MEF2BNB-MEF2B,NS,carcinoma,0,4	MEF2BNB-MEF2B	0	2	Substitution - Missense(2)	breast(2)	c.G29A						.						195	147	163					19																	19261516		2203	4300	6503	SO:0001583	missense	4207	exon4			AGGATGCGGGAGA	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.29G>A	19.37:g.19261516C>T	ENSP00000473308:p.Arg10His	47	0		20	2	NM_005919	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486525	0.84854	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.27	4.27	0.50696	Transcription factor, MADS-box (6);	0.000000	0.64402	D	0.000005	D	0.93028	0.7781	M	0.88640	2.97	0.50467	D	0.999876	P;P;D;D;D	0.89917	0.95;0.892;1.0;0.977;0.981	P;P;D;P;P	0.87578	0.698;0.586;0.998;0.669;0.698	D	0.94377	0.7601	10	0.87932	D	0	-21.7055	14.5386	0.67979	0.0:1.0:0.0:0.0	.	10;57;10;10;10	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	H	10;10;10;10;57;10	ENSP00000386480:R10H;ENSP00000402154:R10H;ENSP00000386374:R10H;ENSP00000390762:R10H;ENSP00000162023:R10H	ENSP00000162023:R10H	R	-	2	0	MEF2B	19122516	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	6.754000	0.74909	2.083000	0.62718	0.491000	0.48974	CGC	.		0.557	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		T	19261516	C	T	19261516	3	4	27	1	0	0	0	0	1	0	0	0	8924	768	27	1	1096	1	LOC729991-MEF2B	19	19261516	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	1825683	19261516	39867467	113	4453											
RHPN2	85415	hgsc.bcm.edu	37	19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	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		.											RHPN2,face,carcinoma,0,2	RHPN2	0	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A						.						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	26	2		10	2	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	.		0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		T	33517507	C	T	33517507	3	4	27	1	0	0	0	0	1	0	0	0	13396	565	20	3	1895	3	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	14255991	33517507	25611476	114	4454											
DMKN	93099	bcgsc.ca	37	19	36002411	36002412	+	Missense_Mutation	DNP	TG	TG	CA	rs56743379|rs111543270|rs199498909		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:36002411_36002412TG>CA	ENST00000339686.3	-	5	995_996	c.819_820CA>TG	c.(817-822)agCAgt>agTGgt	p.S274G	DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000440396.1_Missense_Mutation_p.S274G|DMKN_ENST00000424570.2_Missense_Mutation_p.S274G|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S274G|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S274G|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000451297.2_Missense_Mutation_p.S274G|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000458071.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	274	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)			ctgctgccactgctgctgccac	0.653																																					p.S274G													.	DMKN	116	1	Deletion - In frame(1)	ovary(1)	c.C819T						.																																			SO:0001583	missense	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.819_820delinsCA	19.37:g.36002411_36002412delinsCA	ENSP00000342012:p.Ser274Gly	66	0		50	5	NM_001126058	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	DNP	ENST00000339686.3	37	CCDS12463.1																																																																																			.		0.653	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		CA	36002412	TG	CA	36002411	3	2	27	1	0	0	0	0	1	0	0	0	4596	1580	55	4	975	4	DMKN	19	36002411	Missense_Mutation	DNP	TG	TCGA-YR-A95A-01A-12D-A417-09	2484904	36002411	23126572	115	4455											
MARK4	57787	ucsc.edu	37	19	45774944	45774944	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:45774944C>T	ENST00000262891.4	+	8	1095	c.764C>T	c.(763-765)cCc>cTc	p.P255L	MARK4_ENST00000300843.4_Missense_Mutation_p.P255L	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGCTCCCTGCCCTTCGACGGG	0.672																																					p.P255L													.	MARK4	132	0			c.C764T						.						49	53	52					19																	45774944		2203	4300	6503	SO:0001583	missense	57787	exon8			CCCTGCCCTTCGA	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.764C>T	19.37:g.45774944C>T	ENSP00000262891:p.Pro255Leu	44	0		34	4	NM_001199867	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690820	0.88735	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.37584	1.19;1.19	4.37	4.37	0.52481	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	0.62551	0.2437	M	0.83953	2.67	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	0.69359	-0.5166	10	0.87932	D	0	.	14.4482	0.67367	0.0:1.0:0.0:0.0	.	121;255;255	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	L	285;255;255	ENSP00000262891:P255L;ENSP00000300843:P255L	ENSP00000262891:P255L	P	+	2	0	MARK4	50466784	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.601000	0.82783	2.273000	0.75805	0.561000	0.74099	CCC	.		0.672	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		T	45774944	C	T	45774944	3	4	27	1	0	0	0	0	1	0	0	0	9353	623	22	3	794	3	MARK4	19	45774944	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	9772533	45774944	13354039	116	4456											
ZNF175	7728	hgsc.bcm.edu	37	19	52090212	52090212	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:52090212G>T	ENST00000262259.2	+	5	986	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	210					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)		GCTGAACCTAGAAGTGAACGG	0.463																																					p.E210X		.											ZNF175,colon,carcinoma,0,1	ZNF175	0	0			c.G628T						.						83	78	80					19																	52090212		2203	4299	6502	SO:0001587	stop_gained	7728	exon5			AACCTAGAAGTGA	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.628G>T	19.37:g.52090212G>T	ENSP00000262259:p.Glu210*	49	0		43	2	NM_007147	A8K9H2	Nonsense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084611	0.94100	.	.	ENSG00000105497	ENST00000262259	.	.	.	2.73	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.51233	D	0.999916	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	4.9517	0.14017	0.202:0.0:0.798:0.0	.	.	.	.	X	210	.	ENSP00000262259:E210X	E	+	1	0	ZNF175	56782024	0.000000	0.05858	0.803000	0.32268	0.365000	0.29674	0.647000	0.24812	0.416000	0.25844	-0.345000	0.07892	GAA	.		0.463	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		T	52090212	G	T	52090212	4	4	27	1	0	0	0	0	0	1	0	0	17793	943	33	3	642	3	ZNF175	19	52090212	Nonsense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	6315268	52090212	7038771	117	4457											
TMC4	147798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54664886	54664886	+	Missense_Mutation	SNP	G	G	C			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:54664886G>C	ENST00000376591.4	-	12	1947	c.1816C>G	c.(1816-1818)Ctg>Gtg	p.L606V	TMC4_ENST00000416963.1_Missense_Mutation_p.L188V|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.L600V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	606					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)					CTGTAAAGCAGGGGAACGCTG	0.617																																					p.L606V		.											.	.	.	0			c.C1816G						.						24	31	29					19																	54664886		2202	4300	6502	SO:0001583	missense	147798	exon12			AAAGCAGGGGAAC	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.1816C>G	19.37:g.54664886G>C	ENSP00000365776:p.Leu606Val	56	0		38	16	NM_001145303	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	1.625	-0.520402	0.04171	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.70749	-0.47;-0.51;-0.46	4.73	3.68	0.42216	.	0.242001	0.38778	N	0.001577	T	0.34948	0.0915	N	0.00666	-1.275	0.26870	N	0.967763	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.14578	0.001;0.011;0.005	T	0.21280	-1.0250	10	0.07813	T	0.8	-18.7383	12.3146	0.54948	0.0:0.8195:0.1805:0.0	.	606;600;188	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	600;188;606	ENSP00000301187:L600V;ENSP00000405023:L188V;ENSP00000365776:L606V	ENSP00000301187:L600V	L	-	1	2	TMC4	59356698	0.755000	0.28372	0.758000	0.31321	0.540000	0.34992	1.209000	0.32357	1.148000	0.42385	-0.321000	0.08615	CTG	.		0.617	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			C	54664886	G	C	54664886	3	2	27	1	0	0	0	0	1	0	0	0	16034	991	35	5	338	5	TMC4	19	54664886	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	2574674	54664886	4464097	118	4458											
ZSCAN18	65982	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	58596277	58596277	+	Silent	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:58596277G>A	ENST00000240727.6	-	7	1707	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	ZSCAN18_ENST00000421612.2_Silent_p.G300G|ZSCAN18_ENST00000600404.1_Silent_p.G492G|ZSCAN18_ENST00000601144.1_Silent_p.G436G	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	436					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)		GCTTCCGGCCGCCATGGCTGC	0.662																																					p.G492G		.											.	.	.	0			c.C1476T						.						20	17	18					19																	58596277		2194	4293	6487	SO:0001819	synonymous_variant	65982	exon7			CCGGCCGCCATGG	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.1308C>T	19.37:g.58596277G>A		65	0		42	17	NM_001145542	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	CCDS12971.1																																																																																			.		0.662	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		A	58596277	G	A	58596277	2	1	27	1	0	0	0	0	0	0	0	1	18278	1074	38	1		1	ZSCAN18	19	58596277	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	3931391	58596277	532706	119	4459											
ZNF132	7691	hgsc.bcm.edu	37	19	58945596	58945596	+	Silent	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr19:58945596G>A	ENST00000254166.3	-	3	1615	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		CACATTGACTGCACTCATAAG	0.468																																					p.C405C		.											.	.	.	0			c.C1215T						.						112	105	108					19																	58945596		2203	4300	6503	SO:0001819	synonymous_variant	7691	exon3			TTGACTGCACTCA	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1215C>T	19.37:g.58945596G>A		40	0		32	4	NM_003433	Q32MI9	Silent	SNP	ENST00000254166.3	37	CCDS12980.1																																																																																			.		0.468	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		A	58945596	G	A	58945596	2	1	27	1	0	0	0	0	0	0	0	1	17770	1311	46	3		3	ZNF132	19	58945596	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	349319	58945596	183387	120	4460											
SIGLEC1	6614	bcgsc.ca	37	20	3687244	3687244	+	Silent	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr20:3687244G>A	ENST00000344754.4	-	2	158	c.159C>T	c.(157-159)gaC>gaT	p.D53D	SIGLEC1_ENST00000202578.4_Silent_p.D53D	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	53	Ig-like V-type.				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						CCGTGATGCCGTCGGGCACCT	0.672																																					p.D53D													SIGLEC1,NS,neuroblastoma,-2,1	SIGLEC1	210	0			c.C159T						.						24	20	21					20																	3687244		2203	4299	6502	SO:0001819	synonymous_variant	6614	exon2			GATGCCGTCGGGC	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.159C>T	20.37:g.3687244G>A		60	0		52	4	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																			.		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		A	3687244	G	A	3687244	2	1	27	1	0	0	0	0	0	0	0	1	14350	1136	40	1		1	SIGLEC1	20	3687244	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		3687244	59338276	121	4461											
SYN3	8224	hgsc.bcm.edu	37	22	33376642	33376642	+	Silent	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr22:33376642G>T	ENST00000358763.2	-	3	599	c.357C>A	c.(355-357)atC>atA	p.I119I	SYN3_ENST00000332840.5_Silent_p.I119I	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	119	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTCCACTCGGATCTCAATCT	0.473																																					p.I119I		.											SYN3,caecum,carcinoma,0,1	SYN3	0	0			c.C357A						.						334	288	303					22																	33376642		2203	4300	6503	SO:0001819	synonymous_variant	8224	exon3			CACTCGGATCTCA	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.357C>A	22.37:g.33376642G>T		57	0		28	3	NM_001135774	B1B1F9	Silent	SNP	ENST00000358763.2	37	CCDS13908.1																																																																																			.		0.473	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			T	33376642	G	T	33376642	2	4	27	1	0	0	0	0	0	0	0	1	15489	1164	41	3		3	SYN3	22	33376642	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		33376642	17927924	122	4462											
KCNJ4	3761	hgsc.bcm.edu	37	22	38824085	38824085	+	Missense_Mutation	SNP	C	C	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr22:38824085C>T	ENST00000303592.3	-	2	311	c.53G>A	c.(52-54)cGc>cAc	p.R18H	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	18					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)	p.R18H(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GAAGCGGTTGCGGCGCTTCCG	0.647																																					p.R18H		.											KCNJ4,NS,carcinoma,0,1	KCNJ4	0	1	Substitution - Missense(1)	endometrium(1)	c.G53A						.						254	217	230					22																	38824085		2203	4300	6503	SO:0001583	missense	3761	exon2			CGGTTGCGGCGCT	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.53G>A	22.37:g.38824085C>T	ENSP00000306497:p.Arg18His	40	0		32	2	NM_004981	Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504094	0.85176	.	.	ENSG00000168135	ENST00000303592	D	0.90732	-2.72	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.76002	2.32	0.58432	D	0.999998	D	0.76494	0.999	P	0.61722	0.893	D	0.95064	0.8198	10	0.66056	D	0.02	.	17.4411	0.87565	0.0:1.0:0.0:0.0	.	18	P48050	IRK4_HUMAN	H	18	ENSP00000306497:R18H	ENSP00000306497:R18H	R	-	2	0	KCNJ4	37154031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.057000	0.71119	2.182000	0.69389	0.555000	0.69702	CGC	.		0.647	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		T	38824085	C	T	38824085	3	4	27	1	0	0	0	0	1	0	0	0	8080	768	27	1	1288	1	KCNJ4	22	38824085	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	5447443	38824085	12480481	123	4463											
MPPED1	758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	43870630	43870630	+	Missense_Mutation	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chr22:43870630G>A	ENST00000417669.2	+	4	865	c.421G>A	c.(421-423)Gag>Aag	p.E141K	MPPED1_ENST00000414469.2_Missense_Mutation_p.E35K|MPPED1_ENST00000542779.1_Missense_Mutation_p.E141K|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.E174K|MPPED1_ENST00000443721.1_Missense_Mutation_p.E141K			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	141							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)				CCTGCCCTACGAGTACAAGAT	0.582																																					p.E141K		.											.	.	.	0			c.G421A						.						101	103	103					22																	43870630		2113	4251	6364	SO:0001583	missense	758	exon4			CCCTACGAGTACA	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.421G>A	22.37:g.43870630G>A	ENSP00000388137:p.Glu141Lys	15	0		13	5	NM_001044370	A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143961	0.37825	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000542779;ENST00000538182	T;T;T;T;T	0.41400	1.0;1.0;1.13;1.0;1.0	5.08	5.08	0.68730	Metallophosphoesterase domain (1);	0.055168	0.64402	D	0.000001	T	0.35248	0.0925	N	0.11023	0.085	0.80722	D	1	D;B	0.59357	0.985;0.272	P;B	0.53185	0.72;0.051	T	0.09952	-1.0651	10	0.08599	T	0.76	-41.4658	18.5263	0.90974	0.0:0.0:1.0:0.0	.	174;141	B7Z2S9;O15442	.;MPPD1_HUMAN	K	141;141;119;35;141;174	ENSP00000388137:E141K;ENSP00000400686:E141K;ENSP00000388245:E35K;ENSP00000444532:E141K;ENSP00000438335:E174K	ENSP00000388245:E35K	E	+	1	0	MPPED1	42200574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.457000	0.97630	2.365000	0.80145	0.551000	0.68910	GAG	.		0.582	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		A	43870630	G	A	43870630	3	1	27	1	0	0	0	0	1	0	0	0	9779	1059	37	1	431	1	MPPED1	22	43870630	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	5046545	43870630	7433936	124	4464											
CDKL5	6792	hgsc.bcm.edu;bcgsc.ca	37	X	18638035	18638035	+	Missense_Mutation	SNP	G	G	T	rs587783122		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chrX:18638035G>T	ENST00000379989.3	+	17	2610	c.2325G>T	c.(2323-2325)gaG>gaT	p.E775D	CDKL5_ENST00000379996.3_Missense_Mutation_p.E775D|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	775					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)					AGGAAAAAGAGAAGCAAGGAT	0.289																																					p.E775D		.											.	.	.	0			c.G2325T	GRCh37	CD083285	CDKL5	D		.						36	36	36					X																	18638035		2202	4294	6496	SO:0001583	missense	6792	exon16			AAAAGAGAAGCAA	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.2325G>T	X.37:g.18638035G>T	ENSP00000369325:p.Glu775Asp	126	0		80	4	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046619	0.36085	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79653	-1.29;-1.29	5.43	1.3	0.21679	.	0.043233	0.85682	D	0.000000	T	0.81259	0.4785	L	0.32530	0.975	0.28865	N	0.895316	D	0.69078	0.997	D	0.72625	0.978	T	0.74438	-0.3665	10	0.72032	D	0.01	-23.0158	8.7847	0.34814	0.4388:0.0:0.5612:0.0	.	775	O76039	CDKL5_HUMAN	D	775	ENSP00000369332:E775D;ENSP00000369325:E775D	ENSP00000369325:E775D	E	+	3	2	CDKL5	18547956	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	1.721000	0.38032	0.127000	0.18452	0.594000	0.82650	GAG	.		0.289	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		T	18638035	G	T	18638035	3	4	27	1	0	0	0	0	1	0	0	0	3164	933	33	3	2383	3	CDKL5	23	18638035	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09		18638035	136632525	125	4465											
BMP15	9210	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	50659359	50659359	+	Missense_Mutation	SNP	G	G	T			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chrX:50659359G>T	ENST00000252677.3	+	2	931	c.931G>T	c.(931-933)Gct>Tct	p.A311S		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	311					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)					CTGGATCATTGCTCCCCCTTT	0.493																																					p.A311S		.											.	.	.	0			c.G931T						.						158	132	141					X																	50659359		2203	4299	6502	SO:0001583	missense	9210	exon2			ATCATTGCTCCCC	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.931G>T	X.37:g.50659359G>T	ENSP00000252677:p.Ala311Ser	45	0		20	16	NM_005448	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	g	15.20	2.764413	0.49574	.	.	ENSG00000130385	ENST00000252677	D	0.84298	-1.83	5.58	5.58	0.84498	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91888	0.7432	M	0.74546	2.27	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.92282	0.5834	10	0.56958	D	0.05	.	15.8666	0.79069	0.0:0.0:1.0:0.0	.	311	O95972	BMP15_HUMAN	S	311	ENSP00000252677:A311S	ENSP00000252677:A311S	A	+	1	0	BMP15	50676099	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	4.670000	0.61583	2.346000	0.79739	0.594000	0.82650	GCT	.		0.493	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50659359	G	T	50659359	3	4	27	1	0	0	0	0	1	0	0	0	1460	1319	46	3	937	3	BMP15	23	50659359	Missense_Mutation	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	32021324	50659359	104611201	126	4466											
PJA1	64219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	68382847	68382847	+	Missense_Mutation	SNP	A	A	G			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chrX:68382847A>G	ENST00000361478.1	-	2	612	c.235T>C	c.(235-237)Tgg>Cgg	p.W79R	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.W24R|PJA1_ENST00000374583.1_Missense_Mutation_p.W79R|PJA1_ENST00000374584.3_Missense_Mutation_p.W79R	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	79					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						CTGTCGTCCCAACTACGACGA	0.522																																					p.W79R		.											.	.	.	0			c.T235C						.						152	130	138					X																	68382847		2203	4300	6503	SO:0001583	missense	64219	exon2			CGTCCCAACTACG	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.235T>C	X.37:g.68382847A>G	ENSP00000355014:p.Trp79Arg	35	0		20	14	NM_145119	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	A	8.357	0.832183	0.16820	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.11277	3.54;3.48;3.48;2.79	3.39	3.39	0.38822	.	0.798137	0.10222	U	0.700748	T	0.22589	0.0545	L	0.44542	1.39	0.20307	N	0.999917	D;D	0.76494	0.999;0.994	D;D	0.83275	0.996;0.984	T	0.11299	-1.0593	10	0.41790	T	0.15	-5.4485	7.5826	0.27974	1.0:0.0:0.0:0.0	.	79;79	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	R	24;79;79;79;24	ENSP00000363712:W79R;ENSP00000363711:W79R;ENSP00000355014:W79R;ENSP00000363699:W24R	ENSP00000355014:W79R	W	-	1	0	PJA1	68299572	0.924000	0.31332	0.490000	0.27465	0.046000	0.14306	1.588000	0.36633	1.603000	0.50134	0.433000	0.28618	TGG	.		0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		G	68382847	A	G	68382847	3	3	27	1	0	0	0	0	1	0	0	0	12000	130	5	4	1700	4	PJA1	23	68382847	Missense_Mutation	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	17723488	68382847	86887713	127	4467											
PHKA1	5255	hgsc.bcm.edu	37	X	71825199	71825199	+	Missense_Mutation	SNP	C	C	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chrX:71825199C>A	ENST00000373542.4	-	25	2896	c.2737G>T	c.(2737-2739)Gct>Tct	p.A913S	PHKA1_ENST00000339490.3_Missense_Mutation_p.A913S|PHKA1_ENST00000541944.1_Missense_Mutation_p.A854S|PHKA1_ENST00000373539.3_Missense_Mutation_p.A913S|PHKA1_ENST00000373545.3_Missense_Mutation_p.A854S	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	913					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)					AACATTTCAGCAAAGAGGCCA	0.413																																					p.A913S		.											.	.	.	0			c.G2737T						.						101	83	89					X																	71825199		2203	4299	6502	SO:0001583	missense	5255	exon25			TTTCAGCAAAGAG		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.2737G>T	X.37:g.71825199C>A	ENSP00000362643:p.Ala913Ser	41	0		38	4	NM_002637	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040167	0.19669	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.8	5.8	0.92144	Glycoside hydrolase 15-related (1);	0.136089	0.64402	D	0.000002	T	0.68375	0.2994	N	0.01649	-0.78	0.30430	N	0.777222	B;B;B	0.21688	0.059;0.006;0.016	B;B;B	0.17433	0.018;0.006;0.015	T	0.58075	-0.7700	10	0.08599	T	0.76	-19.1792	16.2856	0.82720	0.0:1.0:0.0:0.0	.	854;913;913	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	S	854;913;854;913;913	ENSP00000362646:A854S;ENSP00000362643:A913S;ENSP00000441251:A854S;ENSP00000342469:A913S;ENSP00000362640:A913S	ENSP00000342469:A913S	A	-	1	0	PHKA1	71741924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.749000	0.26320	2.450000	0.82876	0.594000	0.82650	GCT	.		0.413	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71825199	C	A	71825199	3	1	27	1	0	0	0	0	1	0	0	0	11882	710	25	3	966	3	PHKA1	23	71825199	Missense_Mutation	SNP	C	TCGA-YR-A95A-01A-12D-A417-09	3442352	71825199	83445361	128	4468											
CYSLTR1	10800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	77529104	77529104	+	Missense_Mutation	SNP	A	A	G			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chrX:77529104A>G	ENST00000373304.3	-	3	432	c.140T>C	c.(139-141)gTc>gCc	p.V47A		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	47					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTATGAGGACATAGAGCAC	0.423																																					p.V47A		.											.	.	.	0			c.T140C						.						128	104	112					X																	77529104		2203	4300	6503	SO:0001583	missense	10800	exon3			ATGAGGACATAGA	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.140T>C	X.37:g.77529104A>G	ENSP00000362401:p.Val47Ala	42	0		18	14	NM_006639	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	a	13.23	2.175452	0.38413	.	.	ENSG00000173198	ENST00000373304	T	0.40225	1.04	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.125328	0.52532	D	0.000066	T	0.40956	0.1138	L	0.58101	1.795	0.36269	D	0.855027	B	0.17852	0.024	B	0.24394	0.053	T	0.50734	-0.8793	10	0.87932	D	0	.	10.9063	0.47081	1.0:0.0:0.0:0.0	.	47	Q9Y271	CLTR1_HUMAN	A	47	ENSP00000362401:V47A	ENSP00000362401:V47A	V	-	2	0	CYSLTR1	77415760	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.188000	0.77739	1.467000	0.48044	0.368000	0.22195	GTC	.		0.423	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			G	77529104	A	G	77529104	3	3	27	1	0	0	0	0	1	0	0	0	4210	275	10	4	877	4	CYSLTR1	23	77529104	Missense_Mutation	SNP	A	TCGA-YR-A95A-01A-12D-A417-09	5703905	77529104	77741456	129	4469											
DIAPH2	1730	bcgsc.ca	37	X	96212895	96212895	+	Silent	SNP	G	G	A			TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chrX:96212895G>A	ENST00000324765.8	+	16	2030	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G	DIAPH2_ENST00000373061.3_Silent_p.G561G|DIAPH2_ENST00000373049.4_Silent_p.G561G|DIAPH2_ENST00000373054.4_Silent_p.G557G|DIAPH2_ENST00000355827.4_Silent_p.G561G			O60879	DIAP2_HUMAN	diaphanous-related formin 2	561	FH1.				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						CAGGTGTAGGGCCGCCTCCAC	0.542																																					p.G561G													.	DIAPH2	148	0			c.G1683A						.						38	35	36					X																	96212895		2203	4300	6503	SO:0001819	synonymous_variant	1730	exon16			TGTAGGGCCGCCT	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.1683G>A	X.37:g.96212895G>A		77	0		49	4	NM_007309	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	CCDS14467.1																																																																																			.		0.542	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		A	96212895	G	A	96212895	2	1	27	1	0	0	0	0	0	0	0	1	4533	1190	42	3		3	DIAPH2	23	96212895	Silent	SNP	G	TCGA-YR-A95A-01A-12D-A417-09	18683791	96212895	59057665	130	4470											
ABCD1	215	ucsc.edu	37	X	153006141	153006141	+	Missense_Mutation	SNP	T	T	A	rs79383557		TCGA-YR-A95A-01A-12D-A417-09	TCGA-YR-A95A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7134f2af-ddbf-48d5-862c-d3bc9e0fc833	820fc180-08c0-4786-9144-171d24ad2266	g.chrX:153006141T>A	ENST00000218104.3	+	7	2147	c.1748T>A	c.(1747-1749)gTg>gAg	p.V583E	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	583	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACGTCGTGCACCTGCAC	0.652																																					p.V583E													.	ABCD1	59	0			c.T1748A						.																																			SO:0001583	missense	215	exon7			ACGTCGTGCACCT	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1748T>A	X.37:g.153006141T>A	ENSP00000218104:p.Val583Glu	22	3		39	10	NM_000033	Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.838612	0.71373	.	.	ENSG00000101986	ENST00000218104	D	0.94862	-3.54	4.76	4.76	0.60689	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.97983	0.9336	H	0.96430	3.82	0.09310	P	1.0	D	0.89917	1.0	D	0.87578	0.998	D	0.99914	1.1216	9	0.87932	D	0	-23.5369	12.377	0.55285	0.0:0.0:0.0:1.0	.	583	P33897	ABCD1_HUMAN	E	583	ENSP00000218104:V583E	ENSP00000218104:V583E	V	+	2	0	ABCD1	152659335	1.000000	0.71417	0.280000	0.24747	0.546000	0.35178	7.508000	0.81686	1.764000	0.52075	0.350000	0.21858	GTG	.		0.652	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		A	153006141	T	A	153006141	3	1	27	1	0	0	0	0	1	0	0	0	60	1696	59	5	1774	5	ABCD1	23	153006141	Missense_Mutation	SNP	T	TCGA-YR-A95A-01A-12D-A417-09	56793246	153006141	2264419	131	4471											
ARID1A	8289	broad.mit.edu;bcgsc.ca	37	1	27101384	27101394	+	Frame_Shift_Del	DEL	GGTCCCTCTGC	GGTCCCTCTGC	-			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:27101384_27101394delGGTCCCTCTGC	ENST00000324856.7	+	18	5037_5047	c.4666_4676delGGTCCCTCTGC	c.(4666-4677)ggtccctctgccfs	p.GPSA1556fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.GPSA1173fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1556					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)		GCCCCCATATGGTCCCTCTGCCCCTGTGCCC	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.1556_1559del				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	0			c.4666_4676del						.																																			SO:0001589	frameshift_variant	8289	exon18			CCATATGGTCCCT	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.4666_4676delGGTCCCTCTGC	1.37:g.27101384_27101394delGGTCCCTCTGC	ENSP00000320485:p.Gly1556fs	48	0		25	8	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																			.		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27101394	GGTCCCTCTGC	-	27101384	7	5	28	1	0	1	0	1	0	0	0	0	913	1348	47	0	4736	0	ARID1A	1	27101384	Frame_Shift_Del	DEL	GGTCCCTCTGC	TCGA-ZD-A8I3-01A-11D-A417-09		27101384	222149237	1	4472											
ORC1L	4998	hgsc.bcm.edu	37	1	52840513	52840513	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:52840513C>A	ENST00000371568.3	-	16	2578	c.2360G>T	c.(2359-2361)cGa>cTa	p.R787L	ORC1_ENST00000371566.1_Missense_Mutation_p.R787L	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	787	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)	p.R787Q(1)		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						CAGTCCTGATCGACGGAACTC	0.443																																					p.R787L		.											ORC1,NS,carcinoma,0,1	ORC1	0	1	Substitution - Missense(1)	prostate(1)	c.G2360T						.						73	72	72					1																	52840513		2203	4300	6503	SO:0001583	missense	4998	exon16			CCTGATCGACGGA		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.2360G>T	1.37:g.52840513C>A	ENSP00000360623:p.Arg787Leu	54	0		49	2	NM_004153	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382090	0.61845	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.46819	0.86;0.86	5.96	3.13	0.36017	CDC6, C-terminal (1);	0.056074	0.64402	D	0.000001	T	0.60663	0.2286	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.56746	0.977;0.977	P;P	0.61940	0.896;0.896	T	0.61377	-0.7075	10	0.72032	D	0.01	-2.9804	11.5399	0.50661	0.0:0.8085:0.0:0.1915	.	782;787	B7Z8H0;Q13415	.;ORC1_HUMAN	L	787	ENSP00000360623:R787L;ENSP00000360621:R787L	ENSP00000360621:R787L	R	-	2	0	ORC1	52613101	0.997000	0.39634	0.576000	0.28549	0.323000	0.28346	3.677000	0.54619	0.439000	0.26476	-0.768000	0.03414	CGA	.		0.443	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		A	52840513	C	A	52840513	3	1	28	1	0	0	0	0	1	0	0	0	11300	884	31	2	233	2	ORC1L	1	52840513	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	25739129	52840513	196410108	2	4473											
PDE4B	5142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	66713147	66713147	+	Missense_Mutation	SNP	G	G	C			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:66713147G>C	ENST00000329654.4	+	4	473	c.286G>C	c.(286-288)Gat>Cat	p.D96H	PDE4B_ENST00000371049.3_Missense_Mutation_p.D96H|PDE4B_ENST00000423207.2_Missense_Mutation_p.D81H	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	96					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.D81H(1)|p.D96H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TTTAAGCTTTGATGTGGAAAA	0.527																																					p.D96H		.											PDE4B_ENST00000423207,NS,carcinoma,0,2	PDE4B_ENST00000423207	0	2	Substitution - Missense(2)	lung(2)	c.G286C						.						194	211	205					1																	66713147		2203	4300	6503	SO:0001583	missense	5142	exon4			AGCTTTGATGTGG	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.286G>C	1.37:g.66713147G>C	ENSP00000332116:p.Asp96His	38	0		23	6	NM_001037341	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053995	0.93793	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480	T;T;T;T;D	0.85955	-0.87;-0.87;-0.87;-1.14;-2.05	5.95	5.95	0.96441	.	0.298154	0.41294	D	0.000915	D	0.90003	0.6879	L	0.54323	1.7	0.80722	D	1	D;D;P	0.67145	0.996;0.994;0.919	D;D;P	0.70016	0.967;0.928;0.832	D	0.89885	0.4033	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	81;86;96	Q07343-3;Q59GM8;Q07343	.;.;PDE4B_HUMAN	H	96;96;96;81;4	ENSP00000332116:D96H;ENSP00000342637:D96H;ENSP00000360088:D96H;ENSP00000392947:D81H;ENSP00000397548:D4H	ENSP00000332116:D96H	D	+	1	0	PDE4B	66485735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GAT	.		0.527	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		C	66713147	G	C	66713147	3	2	28	1	0	0	0	0	1	0	0	0	11679	1290	45	5	536	5	PDE4B	1	66713147	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	13872634	66713147	182537474	3	4474											
CHIA	27159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	111854340	111854340	+	Splice_Site	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:111854340G>T	ENST00000369740.1	+	3	158	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.G19C|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	19					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)		TTTGCAGCTCGGTAAGTCATG	0.388																																					p.G19C		.											.	.	.	0			c.G55T						.						227	216	220					1																	111854340		1883	4103	5986	SO:0001630	splice_region_variant	27159	exon3			CAGCTCGGTAAGT	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.55+1G>T	1.37:g.111854340G>T		42	0		54	19	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	-	14.07	2.424982	0.43020	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.05717	3.4;3.4	4.38	3.45	0.39498	.	0.213507	0.28006	U	0.016961	T	0.13243	0.0321	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01096	-1.1453	10	0.48119	T	0.1	-5.9554	12.3324	0.55048	0.0:0.172:0.828:0.0	.	19	Q9BZP6	CHIA_HUMAN	C	19	ENSP00000358755:G19C;ENSP00000341828:G19C	ENSP00000341828:G19C	G	+	1	0	CHIA	111655863	1.000000	0.71417	0.991000	0.47740	0.430000	0.31655	2.481000	0.45215	1.155000	0.42497	0.655000	0.94253	GGC	.		0.388	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		Missense_Mutation	T	111854340	G	T	111854340	5	4	28	1	0	0	0	0	0	0	1	0	3349	1130	39	2	61	2	CHIA	1	111854340	Splice_Site	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	45141193	111854340	137396281	4	4475											
NTRK1	4914	hgsc.bcm.edu	37	1	156844710	156844710	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:156844710G>T	ENST00000524377.1	+	11	1305	c.1264G>T	c.(1264-1266)Gtg>Ttg	p.V422L	NTRK1_ENST00000392302.2_Missense_Mutation_p.V386L|NTRK1_ENST00000358660.3_Missense_Mutation_p.V416L|NTRK1_ENST00000368196.3_Missense_Mutation_p.V416L	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	422					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)	p.V422L(1)		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)	CTCGGTGGCTGTGGGCCTGGC	0.557			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																											p.V422L		.		Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	NTRK1_ENST00000392302,caecum,carcinoma,-2,1	NTRK1_ENST00000392302	-2	1	Substitution - Missense(1)	lung(1)	c.G1264T						.						122	118	119					1																	156844710		2203	4300	6503	SO:0001583	missense	4914	exon11			GTGGCTGTGGGCC	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.1264G>T	1.37:g.156844710G>T	ENSP00000431418:p.Val422Leu	28	0		41	2	NM_002529	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357201	0.82243	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.78707	-1.16;-1.15;-1.18;-1.2	5.46	5.46	0.80206	.	0.000000	0.49916	D	0.000127	D	0.87067	0.6085	M	0.81112	2.525	0.80722	D	1	D;P;D;D	0.89917	0.998;0.849;0.999;1.0	D;P;D;D	0.83275	0.972;0.511;0.987;0.996	D	0.87646	0.2525	10	0.56958	D	0.05	.	17.85	0.88744	0.0:0.0:1.0:0.0	.	416;416;422;386	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	L	386;416;422;416	ENSP00000376120:V386L;ENSP00000357179:V416L;ENSP00000431418:V422L;ENSP00000351486:V416L	ENSP00000351486:V416L	V	+	1	0	NTRK1	155111334	1.000000	0.71417	0.988000	0.46212	0.426000	0.31534	9.204000	0.95041	2.551000	0.86045	0.561000	0.74099	GTG	.		0.557	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156844710	G	T	156844710	3	4	28	1	0	0	0	0	1	0	0	0	10745	1377	48	3	1436	3	NTRK1	1	156844710	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	44990370	156844710	92405911	5	4476											
AIM2	9447	hgsc.bcm.edu	37	1	159038461	159038461	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:159038461G>T	ENST00000368130.4	-	3	581	c.293C>A	c.(292-294)cCa>cAa	p.P98Q	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	98					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)					TAGTGGCTTTGGTTTTGTTAC	0.393																																					p.P98Q		.											.	.	.	0			c.C293A						.						218	182	194					1																	159038461		2203	4300	6503	SO:0001583	missense	9447	exon3			GGCTTTGGTTTTG	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.293C>A	1.37:g.159038461G>T	ENSP00000357112:p.Pro98Gln	67	0		105	5	NM_004833	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	6.377	0.437707	0.12104	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.29397	3.19;1.57	2.12	1.09	0.20402	.	.	.	.	.	T	0.05135	0.0137	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.43458	-0.9390	9	0.16896	T	0.51	2.0123	5.5558	0.17115	0.0:0.0:0.5336:0.4664	.	98	O14862	AIM2_HUMAN	Q	98	ENSP00000357112:P98Q;ENSP00000405197:P98Q	ENSP00000357112:P98Q	P	-	2	0	AIM2	157305085	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.335000	0.07873	0.324000	0.23333	0.561000	0.74099	CCA	.		0.393	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		T	159038461	G	T	159038461	3	4	28	1	0	0	0	0	1	0	0	0	432	1348	47	3	754	3	AIM2	1	159038461	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	2193751	159038461	90212160	6	4477											
NR1I3	9970	hgsc.bcm.edu	37	1	161202597	161202597	+	Splice_Site	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:161202597C>A	ENST00000367982.4	-	5	703	c.548G>T	c.(547-549)cGt>cTt	p.R183L	NR1I3_ENST00000511676.1_Splice_Site_p.R154L|NR1I3_ENST00000515621.1_Splice_Site_p.R108L|NR1I3_ENST00000412844.2_Splice_Site_p.R154L|NR1I3_ENST00000506209.1_Splice_Site_p.R154L|NR1I3_ENST00000367979.2_Splice_Site_p.R183L|NR1I3_ENST00000367980.2_Splice_Site_p.R183L|NR1I3_ENST00000504010.1_Splice_Site_p.R154L|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367983.4_Splice_Site_p.R183L|NR1I3_ENST00000428574.2_Splice_Site_p.R183L|NR1I3_ENST00000367981.3_Splice_Site_p.R154L|NR1I3_ENST00000505005.1_Splice_Site_p.R183L|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000512372.1_Splice_Site_p.R154L|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367984.4_Splice_Site_p.R183L|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000515452.1_Splice_Site_p.R183L|NR1I3_ENST00000508740.1_Splice_Site_p.R154L|NR1I3_ENST00000437437.2_Splice_Site_p.R154L|NR1I3_ENST00000367985.3_Splice_Site_p.R183L|NR1I3_ENST00000442691.2_Splice_Site_p.R183L			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	183					androgen receptor signaling pathway (GO:0030521)|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)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTCACTCACCGGAAGACGGG	0.493																																					p.R183L		.											NR1I3_ENST00000428574,right_upper_lobe,carcinoma,0,2	NR1I3_ENST00000428574	0	0			c.G548T						.						100	101	101					1																	161202597		2203	4300	6503	SO:0001630	splice_region_variant	9970	exon5			ACTCACCGGAAGA	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.548+1G>T	1.37:g.161202597C>A		33	1		50	2	NM_005122	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007115	0.75046	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21	5.4	4.48	0.54585	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.160493	0.51477	D	0.000089	D	0.95300	0.8475	L	0.48642	1.525	0.49798	D	0.999823	P;D;D;P;D;P;P;D;D;P;D;D;D;D;P;D;D;D	0.89917	0.873;0.991;1.0;0.824;1.0;0.913;0.74;0.995;1.0;0.74;0.999;1.0;1.0;0.971;0.718;1.0;1.0;0.999	P;P;D;P;D;P;P;D;D;P;D;D;D;P;B;D;D;D	0.91635	0.615;0.825;0.998;0.511;0.998;0.612;0.508;0.936;0.998;0.508;0.975;0.985;0.999;0.825;0.222;0.985;0.985;0.994	D	0.94689	0.7872	8	.	.	.	.	7.4289	0.27115	0.0:0.7436:0.1699:0.0865	.	183;154;154;183;183;183;183;183;183;183;108;154;154;154;154;154;154;183	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	L	154;183;183;154;183;154;183;183;154;183;154;154;154;108;183;183;183;154;183	ENSP00000425417:R154L;ENSP00000356962:R183L;ENSP00000356959:R183L;ENSP00000407446:R154L;ENSP00000406493:R183L;ENSP00000399361:R154L;ENSP00000412672:R183L;ENSP00000424934:R183L;ENSP00000423666:R154L;ENSP00000356961:R183L;ENSP00000424345:R154L;ENSP00000427175:R154L;ENSP00000356960:R154L;ENSP00000421588:R108L;ENSP00000356963:R183L;ENSP00000356965:R183L;ENSP00000356958:R183L;ENSP00000423089:R154L;ENSP00000427034:R183L	.	R	-	2	0	NR1I3	159469221	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.525000	0.45598	1.487000	0.48415	0.561000	0.74099	CGT	.		0.493	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		Missense_Mutation	A	161202597	C	A	161202597	5	1	28	1	0	0	0	0	0	0	1	0	10660	666	23	2	640	2	NR1I3	1	161202597	Splice_Site	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	2164136	161202597	88048024	7	4478											
NAV1	89796	hgsc.bcm.edu	37	1	201749556	201749556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:201749556G>T	ENST00000367296.4	+	4	1654	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	NAV1_ENST00000295624.6_Nonsense_Mutation_p.E412*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E21*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E412*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E412*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E425*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	412					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.E412K(1)		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						TAGCTGGGATGAAAGCAGCTC	0.468																																					p.E412X		.											NAV1,NS,carcinoma,0,1	NAV1	0	1	Substitution - Missense(1)	lung(1)	c.G1234T						.						114	104	107					1																	201749556		2203	4300	6503	SO:0001587	stop_gained	89796	exon4			TGGGATGAAAGCA	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.1234G>T	1.37:g.201749556G>T	ENSP00000356265:p.Glu412*	28	0		41	2	NM_020443	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	44	11.014327	0.99503	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	.	.	.	5.42	5.42	0.78866	.	0.165903	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-25.9456	18.8379	0.92169	0.0:0.0:1.0:0.0	.	.	.	.	X	425;412;412;412;412;21	.	ENSP00000295624:E412X	E	+	1	0	NAV1	200016179	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.833000	0.99426	2.531000	0.85337	0.655000	0.94253	GAA	.		0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201749556	G	T	201749556	4	4	28	1	0	0	0	0	0	1	0	0	10221	1291	45	3	1305	3	NAV1	1	201749556	Nonsense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	40546959	201749556	47501065	8	4479											
FAM72A	729533	broad.mit.edu	37	1	206145504	206145504	+	Missense_Mutation	SNP	T	T	C			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:206145504T>C	ENST00000367128.3	+	3	1129	c.281T>C	c.(280-282)cTt>cCt	p.L94P	FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Missense_Mutation_p.L94P|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													FAM72A,NS,carcinoma,0,1	FAM72A	9	1	Substitution - Missense(1)	endometrium(1)	c.T281C						.						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	162	1		193	6	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	.		0.383	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100825.1			C	206145504	T	C	206145504	3	2	28	1	0	0	0	0	1	0	0	0	5636	1609	56	4	291	4	FAM72A	1	206145504	Missense_Mutation	SNP	T	TCGA-ZD-A8I3-01A-11D-A417-09	4395948	206145504	43105117	9	4480											
ARID4B	51742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	235331898	235331898	+	Missense_Mutation	SNP	A	A	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr1:235331898A>G	ENST00000264183.3	-	24	4378	c.3881T>C	c.(3880-3882)tTa>tCa	p.L1294S	ARID4B_ENST00000366603.2_Missense_Mutation_p.L1294S|ARID4B_ENST00000349213.3_Missense_Mutation_p.L1208S|ARID4B-IT1_ENST00000357671.6_RNA	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1294	Ser-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)			CGGTTCAGCTAAAGTTAACAT	0.458																																					p.L1294S		.											.	.	.	0			c.T3881C						.						112	90	98					1																	235331898		2203	4300	6503	SO:0001583	missense	51742	exon24			TCAGCTAAAGTTA	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.3881T>C	1.37:g.235331898A>G	ENSP00000264183:p.Leu1294Ser	72	0		87	12	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	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916133	0.52546	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.30981	1.51;1.54;1.54	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000003	T	0.41789	0.1174	N	0.22421	0.69	0.53005	D	0.999965	D;D	0.76494	0.999;0.998	D;D	0.83275	0.994;0.996	T	0.39272	-0.9622	10	0.56958	D	0.05	-8.9756	14.8378	0.70197	1.0:0.0:0.0:0.0	.	1208;1294	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	S	1208;1294;1294	ENSP00000264184:L1208S;ENSP00000355562:L1294S;ENSP00000264183:L1294S	ENSP00000264183:L1294S	L	-	2	0	ARID4B	233398521	1.000000	0.71417	0.918000	0.36340	0.986000	0.74619	7.924000	0.87555	2.087000	0.62958	0.455000	0.32223	TTA	.		0.458	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		G	235331898	A	G	235331898	3	3	28	1	0	0	0	0	1	0	0	0	920	372	13	4	61	4	ARID4B	1	235331898	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	29186394	235331898	13918723	10	4481											
ANTXR1	84168	hgsc.bcm.edu;bcgsc.ca	37	2	69420523	69420523	+	Silent	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:69420523G>T	ENST00000303714.4	+	17	1732	c.1410G>T	c.(1408-1410)gtG>gtT	p.V470V		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	470					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTGTGTCTGTGATGCGTCCAC	0.453									Familial Infantile Hemangioma																												p.V470V		.											.	.	.	0			c.G1410T						.						193	181	185					2																	69420523		2203	4300	6503	SO:0001819	synonymous_variant	84168	exon17	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	GTCTGTGATGCGT	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1410G>T	2.37:g.69420523G>T		53	0		56	4	NM_032208	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	CCDS1892.1																																																																																			.		0.453	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		T	69420523	G	T	69420523	2	4	28	1	0	0	0	0	0	0	0	1	711	1277	45	3		3	ANTXR1	2	69420523	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		69420523	173778850	11	4482											
ALMS1	7840	hgsc.bcm.edu	37	2	73613037	73613037	+	Missense_Mutation	SNP	A	A	T	rs61156725|rs72319667|rs3074417	byFrequency	TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:73613037A>T	ENST00000264448.6	+	1	152	c.41A>T	c.(40-42)gAg>gTg	p.E14V	ALMS1_ENST00000409009.1_Missense_Mutation_p.E14V|ALMS1_ENST00000377715.1_Missense_Mutation_p.E14V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	14	Glu-rich.				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)		p.E27_E28delEE(1)		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						GAGCTggaggaggaggaggag	0.697																																					p.E14V		.											.	.	.	1	Deletion - In frame(1)	ovary(1)	c.A41T						.						3	4	4					2																	73613037		1515	3244	4759	SO:0001583	missense	7840	exon1			TGGAGGAGGAGGA	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.41A>T	2.37:g.73613037A>T	ENSP00000264448:p.Glu14Val	12	0		24	6	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813706	0.50527	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.26660	2.37;2.58;1.72	3.19	3.19	0.36642	.	0.259523	0.20097	U	0.099311	T	0.31358	0.0794	N	0.19112	0.55	0.24255	N	0.995306	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.02698	-1.1122	10	0.87932	D	0	.	8.1308	0.31027	1.0:0.0:0.0:0.0	.	14;14	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	V	14	ENSP00000386627:E14V;ENSP00000264448:E14V;ENSP00000366944:E14V	ENSP00000264448:E14V	E	+	2	0	ALMS1	73466545	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.230000	0.51286	1.682000	0.51000	0.397000	0.26171	GAG	.		0.697	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		T	73613037	A	T	73613037	3	4	28	1	0	0	0	0	1	0	0	0	535	304	11	5	43	5	ALMS1	2	73613037	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	4192514	73613037	169586336	12	4483											
CTNNA2	1496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	80808879	80808879	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:80808879G>T	ENST00000402739.4	+	13	1947	c.1942G>T	c.(1942-1944)Gat>Tat	p.D648Y	AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.D648Y|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D682Y|CTNNA2_ENST00000541047.1_Missense_Mutation_p.D648Y|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D648Y|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.D327Y|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D648Y|AC008067.2_ENST00000430876.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	648					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						GGAAGATTATGATGTGCGTAG	0.458																																					p.D648Y		.											.	.	.	0			c.G1942T						.						104	107	106					2																	80808879		2074	4190	6264	SO:0001583	missense	1496	exon14			GATTATGATGTGC		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.1942G>T	2.37:g.80808879G>T	ENSP00000384638:p.Asp648Tyr	26	0		41	4	NM_001164883	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.772002	0.90108	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	L	0.58669	1.825	0.80722	D	1	D;P;B;D	0.63880	0.98;0.47;0.169;0.993	P;B;B;D	0.65443	0.844;0.223;0.141;0.935	T	0.56848	-0.7911	9	.	.	.	.	19.8305	0.96632	0.0:0.0:1.0:0.0	.	280;648;648;648	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Y	648;648;682;648;648;648;327	ENSP00000418191:D648Y;ENSP00000419295:D648Y;ENSP00000355398:D682Y;ENSP00000384638:D648Y;ENSP00000444675:D648Y;ENSP00000441705:D648Y;ENSP00000341500:D327Y	.	D	+	1	0	CTNNA2	80662390	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.864000	0.99589	2.672000	0.90937	0.650000	0.86243	GAT	.		0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		T	80808879	G	T	80808879	3	4	28	1	0	0	0	0	1	0	0	0	4022	1290	45	3	1784	3	CTNNA2	2	80808879	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	7195842	80808879	162390494	13	4484											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	85043205	85043218	+	Splice_Site	DEL	CAGGTGAGGATGTT	CAGGTGAGGATGTT	-			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	CAGGTGAGGATGTT	CAGGTGAGGATGTT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:85043205_85043218delCAGGTGAGGATGTT	ENST00000237449.6	+	75	12379_12381	c.12371_12373delCAGGTGAGGATGTT	c.(12370-12375)acaggt>agt	p.TG4124fs	DNAH6_ENST00000389394.3_Splice_Site_p.TG4124fs			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	4124					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						CTCTCAACCACAGGTGAGGATGTTCTTAAGATTA	0.425																																					p.4124_4125del		.											.	.	.	0			c.12370_12373del						.																																			SO:0001630	splice_region_variant	1768	exon76			CAACCACAGGTGA	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.12373+1CAGGTGAGGATGTT>-	2.37:g.85043205_85043218delCAGGTGAGGATGTT		44	0		59	12	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Frame_Shift_Del	DEL	ENST00000237449.6	37	CCDS46348.1																																																																																			.		0.425	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	Frame_Shift_Del	-	85043218	CAGGTGAGGATGTT	-	85043205	8	5	28	1	0	1	0	1	0	0	1	0	4619	478	17	0	12669	0	DNAH6	2	85043205	Splice_Site	DEL	CAGGTGAGGATGTT	TCGA-ZD-A8I3-01A-11D-A417-09	4234326	85043205	158156168	14	4485											
TMEM177	80775	hgsc.bcm.edu	37	2	120439254	120439254	+	Silent	SNP	C	C	T	rs150982620		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:120439254C>T	ENST00000424086.1	+	2	1298	c.825C>T	c.(823-825)agC>agT	p.S275S	TMEM177_ENST00000401466.1_Silent_p.S275S|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.S275S|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	275						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)					ATACACCCAGCGGGAACATCG	0.572																																					p.S275S		.											TMEM177,NS,carcinoma,0,1	TMEM177	0	0			c.C825T						.						62	59	60					2																	120439254		2203	4300	6503	SO:0001819	synonymous_variant	80775	exon2			ACCCAGCGGGAAC	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.825C>T	2.37:g.120439254C>T		16	0		22	2	NM_030577	Q9BT20	Silent	SNP	ENST00000424086.1	37	CCDS2128.1																																																																																			.		0.572	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		T	120439254	C	T	120439254	2	4	28	1	0	0	0	0	0	0	0	1	16141	767	27	1		1	TMEM177	2	120439254	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	35396049	120439254	122760119	15	4486											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	141812821	141812821	+	Missense_Mutation	SNP	G	G	C			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:141812821G>C	ENST00000389484.3	-	10	2387	c.1416C>G	c.(1414-1416)agC>agG	p.S472R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	472	EGF-like 3. {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)		CACATGCATGGCTTCTGACTA	0.403										TSP Lung(27;0.18)																											p.S472R	Colon(99;50 2074 2507 20106)	.											.	.	.	0			c.C1416G						.						84	75	78					2																	141812821		2203	4300	6503	SO:0001583	missense	53353	exon10			TGCATGGCTTCTG	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.1416C>G	2.37:g.141812821G>C	ENSP00000374135:p.Ser472Arg	39	0		37	12	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899765	0.72754	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97598	-4.45	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.057764	0.64402	U	0.000002	D	0.95840	0.8646	L	0.47716	1.5	0.42433	D	0.992686	P	0.49961	0.93	P	0.44860	0.462	D	0.95388	0.8479	10	0.38643	T	0.18	.	19.2911	0.94100	0.0:0.0:1.0:0.0	.	472	Q9NZR2	LRP1B_HUMAN	R	472;410	ENSP00000374135:S472R	ENSP00000374135:S472R	S	-	3	2	LRP1B	141529291	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.717000	0.47227	2.569000	0.86673	0.557000	0.71058	AGC	.		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141812821	G	C	141812821	3	2	28	1	0	0	0	0	1	0	0	0	8990	1194	42	5	12711	5	LRP1B	2	141812821	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	21373567	141812821	101386552	16	4487											
TANK	10010	bcgsc.ca	37	2	162081140	162081140	+	Splice_Site	SNP	A	A	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:162081140A>T	ENST00000392749.2	+	6	643		c.e6-1		TANK_ENST00000406287.1_Splice_Site|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000402568.1_Splice_Site|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Splice_Site|TANK_ENST00000259075.2_Splice_Site	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator						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						TTTTTTTTTTAGGGGTAATAT	0.269																																					.													.	TANK	35	0			c.405-2A>T						.						32	35	34					2																	162081140		2162	4278	6440	SO:0001630	splice_region_variant	10010	exon6			TTTTTTAGGGGTA	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.405-1A>T	2.37:g.162081140A>T		190	1		225	8	NM_004180	D3DPB5|Q7Z4J6|Q92885	Splice_Site	SNP	ENST00000392749.2	37	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039691	0.35989	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000392749;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000437623	.	.	.	2.6	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4052	0.44252	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TANK	161789386	1.000000	0.71417	0.715000	0.30552	0.291000	0.27294	6.043000	0.71004	0.779000	0.33543	0.383000	0.25322	.	.		0.269	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484	Intron	T	162081140	A	T	162081140	5	4	28	1	0	0	0	0	0	0	1	0	15593	434	15	5	454	5	TANK	2	162081140	Splice_Site	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	20268319	162081140	81118233	17	4488											
HOXD9	3235	hgsc.bcm.edu;bcgsc.ca	37	2	176988855	176988855	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:176988855G>T	ENST00000249499.6	+	2	1420	c.1011G>T	c.(1009-1011)agG>agT	p.R337S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	337					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)		AGAACCGTAGGATGAAAATGA	0.537																																					p.R337S	GBM(47;924 952 7959 9248 12176)	.											.	.	.	0			c.G1011T						.						69	81	77					2																	176988855		2203	4300	6503	SO:0001583	missense	3235	exon2			CCGTAGGATGAAA		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.1011G>T	2.37:g.176988855G>T	ENSP00000249499:p.Arg337Ser	66	0		65	4	NM_014213	Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126859	0.56721	.	.	ENSG00000128709	ENST00000249499	D	0.99158	-5.5	5.7	1.78	0.24846	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.99074	4.42	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	D	0.98162	1.0447	10	0.87932	D	0	.	8.589	0.33674	0.3899:0.0:0.6101:0.0	.	337	P28356	HXD9_HUMAN	S	337	ENSP00000249499:R337S	ENSP00000249499:R337S	R	+	3	2	HOXD9	176697101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.889000	0.28282	0.722000	0.32252	0.650000	0.86243	AGG	.		0.537	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			T	176988855	G	T	176988855	3	4	28	1	0	0	0	0	1	0	0	0	7353	1165	41	3	1017	3	HOXD9	2	176988855	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	14907715	176988855	66210518	18	4489											
CASP8	841	hgsc.bcm.edu	37	2	202149565	202149565	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:202149565C>A	ENST00000432109.2	+	9	1018	c.829C>A	c.(829-831)Ctt>Att	p.L277I	CASP8_ENST00000358485.4_Missense_Mutation_p.L336I|CASP8_ENST00000264274.9_Missense_Mutation_p.L193I|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.L294I|CASP8_ENST00000323492.7_Missense_Mutation_p.L262I	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	277					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						CTTTGAAGAGCTTCATTTTGA	0.443										HNSCC(4;0.00038)																											p.L336I	Melanoma(82;831 1348 20716 36952 40159)	.											CASP8_ENST00000358485,NS,carcinoma,0,3	CASP8_ENST00000358485	0	0			c.C1006A						.						77	73	75					2																	202149565		2203	4300	6503	SO:0001583	missense	841	exon8			GAAGAGCTTCATT	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.829C>A	2.37:g.202149565C>A	ENSP00000412523:p.Leu277Ile	24	0		34	2	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	16.23	3.063485	0.55432	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.6	5.6	0.85130	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.212639	0.44483	D	0.000447	T	0.63534	0.2519	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.995;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.993;0.99;0.998;0.993	T	0.72279	-0.4340	10	0.72032	D	0.01	.	19.6188	0.95647	0.0:1.0:0.0:0.0	.	193;336;277;262;294	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	I	262;193;277;294;336;262;56	ENSP00000376091:L262I;ENSP00000264274:L193I;ENSP00000412523:L277I;ENSP00000264275:L294I;ENSP00000351273:L336I;ENSP00000325722:L262I;ENSP00000394434:L56I	ENSP00000264274:L193I	L	+	1	0	CASP8	201857810	0.996000	0.38824	0.957000	0.39632	0.079000	0.17450	3.312000	0.51927	2.646000	0.89796	0.655000	0.94253	CTT	.		0.443	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		A	202149565	C	A	202149565	3	1	28	1	0	0	0	0	1	0	0	0	2684	797	28	3	1136	3	CASP8	2	202149565	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	25160710	202149565	41049808	19	4490											
ABCA12	26154	hgsc.bcm.edu	37	2	215865498	215865498	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:215865498G>T	ENST00000272895.7	-	22	3329	c.3110C>A	c.(3109-3111)aCt>aAt	p.T1037N	ABCA12_ENST00000389661.4_Missense_Mutation_p.T719N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1037					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)		GTTCCTTCCAGTTTGCAATTC	0.423																																					p.T1037N	Ovarian(66;664 1488 5121 34295)	.											ABCA12,colon,carcinoma,0,1	ABCA12	0	0			c.C3110A						.						126	131	129					2																	215865498		2203	4300	6503	SO:0001583	missense	26154	exon22			CTTCCAGTTTGCA	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.3110C>A	2.37:g.215865498G>T	ENSP00000272895:p.Thr1037Asn	30	0		57	3	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716503	0.68844	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95756	-3.8;-3.8	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	D	0.97854	0.9295	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.98154	1.0443	10	0.72032	D	0.01	.	19.9082	0.97015	0.0:0.0:1.0:0.0	.	1037;719	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	1037;719	ENSP00000272895:T1037N;ENSP00000374312:T719N	ENSP00000272895:T1037N	T	-	2	0	ABCA12	215573743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.488000	0.73637	2.705000	0.92388	0.555000	0.69702	ACT	.		0.423	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		T	215865498	G	T	215865498	3	4	28	1	0	0	0	0	1	0	0	0	30	1029	36	3	4805	3	ABCA12	2	215865498	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	13715933	215865498	27333875	20	4491											
HJURP	55355	hgsc.bcm.edu	37	2	234762542	234762542	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:234762542G>T	ENST00000411486.2	-	2	197	c.132C>A	c.(130-132)ttC>ttA	p.F44L	HJURP_ENST00000432087.1_Missense_Mutation_p.F44L|HJURP_ENST00000441687.1_Missense_Mutation_p.F44L	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	44					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.F44L(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGGTGTCCTCGAAGGGCTGGT	0.642																																					p.F44L		.											HJURP,NS,carcinoma,0,1	HJURP	0	1	Substitution - Missense(1)	lung(1)	c.C132A						.						160	146	151					2																	234762542		2203	4300	6503	SO:0001583	missense	55355	exon2			GTCCTCGAAGGGC		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.132C>A	2.37:g.234762542G>T	ENSP00000414109:p.Phe44Leu	29	0		32	2	NM_018410	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425710	0.62733	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.03	0.0932	0.14476	Centromere protein Scm3, N-terminal (1);	0.247728	0.27836	N	0.017650	T	0.35128	0.0921	L	0.34521	1.04	0.25248	N	0.989695	P;P;P	0.38565	0.584;0.584;0.637	B;B;P	0.46758	0.391;0.27;0.526	T	0.23583	-1.0184	10	0.87932	D	0	-11.5454	5.9367	0.19169	0.5151:0.0:0.4849:0.0	.	44;44;44	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	L	44	ENSP00000414109:F44L;ENSP00000407208:F44L;ENSP00000401944:F44L;ENSP00000393253:F44L	ENSP00000414109:F44L	F	-	3	2	HJURP	234427281	1.000000	0.71417	0.999000	0.59377	0.503000	0.33858	0.736000	0.26130	0.114000	0.18032	0.655000	0.94253	TTC	.		0.642	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		T	234762542	G	T	234762542	3	4	28	1	0	0	0	0	1	0	0	0	7216	1049	37	2	2146	2	HJURP	2	234762542	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	18897044	234762542	8436831	21	4492											
LRRFIP1	9208	hgsc.bcm.edu	37	2	238683054	238683054	+	Silent	SNP	A	A	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr2:238683054A>G	ENST00000308482.9	+	23	1830	c.1761A>G	c.(1759-1761)gcA>gcG	p.A587A		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0	Lys-rich.				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)		CTGAAAATGCAGAAAAAATAG	0.348																																					p.A587A		.											.	.	.	0			c.A1761G						.						75	67	69					2																	238683054		1568	3582	5150	SO:0001819	synonymous_variant	9208	exon23			AAATGCAGAAAAA	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.1761A>G	2.37:g.238683054A>G		90	0		87	4	NM_001137550	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000308482.9	37	CCDS46551.1																																																																																			.		0.348	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		G	238683054	A	G	238683054	2	3	28	1	0	0	0	0	0	0	0	1	9062	175	7	4		4	LRRFIP1	2	238683054	Silent	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	3920512	238683054	4516319	22	4493											
GRM7	2917	hgsc.bcm.edu	37	3	7494394	7494394	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr3:7494394G>T	ENST00000357716.4	+	6	1549	c.1275G>T	c.(1273-1275)atG>atT	p.M425I	GRM7_ENST00000486284.1_Missense_Mutation_p.M425I|GRM7_ENST00000402647.2_Missense_Mutation_p.M425I|GRM7_ENST00000389336.4_Missense_Mutation_p.M425I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.M425I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	425					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)	p.M425I(1)		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						TTCACCACATGAACAAGGATC	0.478																																					p.M425I		.											GRM7,rectum,carcinoma,0,1	GRM7	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1275T						.						106	88	94					3																	7494394		2203	4300	6503	SO:0001583	missense	2917	exon6			CCACATGAACAAG	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.1275G>T	3.37:g.7494394G>T	ENSP00000350348:p.Met425Ile	58	0		40	2	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237716	0.79800	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	M	0.73372	2.23	0.80722	D	1	P;D;P;P	0.54964	0.656;0.969;0.925;0.69	P;D;D;B	0.70227	0.679;0.968;0.954;0.379	D	0.87634	0.2518	10	0.42905	T	0.14	.	18.8061	0.92038	0.0:0.0:1.0:0.0	.	425;180;425;425	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	I	425;425;425;425;425;425;425;82	ENSP00000350348:M425I;ENSP00000417536:M425I;ENSP00000373987:M425I;ENSP00000385664:M425I;ENSP00000384585:M425I;ENSP00000395035:M82I	ENSP00000350348:M425I	M	+	3	0	GRM7	7469394	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.876000	0.87215	2.782000	0.95742	0.655000	0.94253	ATG	.		0.478	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		T	7494394	G	T	7494394	3	4	28	1	0	0	0	0	1	0	0	0	6829	1290	45	3	1297	3	GRM7	3	7494394	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		7494394	190528036	23	4494											
WDR52	55779	hgsc.bcm.edu	37	3	113063555	113063555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr3:113063555G>A	ENST00000393845.2	-	23	3136	c.3070C>T	c.(3070-3072)Cga>Tga	p.R1024*		NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGTGGATCTCGAAATCTGAAA	0.343																																					p.R1024X		.											WDR52_ENST00000393845,NS,carcinoma,0,1	WDR52_ENST00000393845	0	0			c.C3070T						.						115	90	98					3																	113063555		692	1591	2283	SO:0001587	stop_gained	55779	exon23			GATCTCGAAATCT																												ENST00000393845.2:c.3070C>T	3.37:g.113063555G>A	ENSP00000377428:p.Arg1024*	38	0		48	2	NM_001164496		Nonsense_Mutation	SNP	ENST00000393845.2	37	CCDS54624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.774946|8.774946	0.98950|0.98950	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845|ENST00000465636	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	4.658740|.	0.00958|.	U|.	0.003072|.	.|T	.|0.71333	.|0.3327	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70092	.|-0.4967	.|4	0.02654|.	T|.	1|.	-9.5668|-9.5668	15.9168|15.9168	0.79524|0.79524	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1024|160	.|.	ENSP00000377428:R1024X|.	R|S	-|-	1|2	2|0	WDR52|WDR52	114546245|114546245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.520000|4.520000	0.60524|0.60524	2.603000|2.603000	0.88011|0.88011	0.591000|0.591000	0.81541|0.81541	CGA|TCG	.		0.343	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113063555	G	A	113063555	4	1	28	1	0	0	0	0	0	1	0	0	17353	1066	37	1	2546	1	WDR52	3	113063555	Nonsense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	105569161	113063555	84958875	24	4495											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376107	113376107	+	Silent	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	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		.											KIAA2018,colon,carcinoma,0,1	KIAA2018	0	0			c.G4422A						.						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		18	1		17	3	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			.		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	28	1	0	0	0	0	0	0	0	1	8295	796	28	3		3	KIAA2018	3	113376107	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	312552	113376107	84646323	25	4496											
ARMC8	25852	hgsc.bcm.edu	37	3	137960639	137960639	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr3:137960639G>T	ENST00000469044.1	+	11	1123	c.852G>T	c.(850-852)ttG>ttT	p.L284F	ARMC8_ENST00000393058.3_Missense_Mutation_p.L274F|ARMC8_ENST00000485396.1_Missense_Mutation_p.L211F|ARMC8_ENST00000481646.1_Missense_Mutation_p.L270F|ARMC8_ENST00000358441.2_Missense_Mutation_p.L270F|ARMC8_ENST00000489213.1_Missense_Mutation_p.L242F|ARMC8_ENST00000471453.1_Missense_Mutation_p.L270F|ARMC8_ENST00000470821.1_Missense_Mutation_p.L284F|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.L242F|ARMC8_ENST00000538260.1_Missense_Mutation_p.L253F	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	284								p.L270F(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTTGTTTGGTTCGAATGT	0.378																																					p.L270F		.											ARMC8_ENST00000481646,NS,carcinoma,0,3	ARMC8_ENST00000481646	0	2	Substitution - Missense(2)	lung(2)	c.G810T						.						117	106	110					3																	137960639		2203	4300	6503	SO:0001583	missense	25852	exon12			TTGTTTGGTTCGA		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.852G>T	3.37:g.137960639G>T	ENSP00000419413:p.Leu284Phe	34	0		41	2	NM_213654	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.301870	0.81136	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.01;-0.01;-0.51;-0.01;-0.01;-0.53;-0.8;0.48	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.995;0.992;0.999;0.999	D;D;D;P;D;D	0.87578	0.988;0.995;0.969;0.9;0.994;0.998	D	0.86694	0.1925	10	0.87932	D	0	.	17.546	0.87861	0.0:0.0:1.0:0.0	.	211;253;284;270;284;270	B7Z637;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;ARMC8_HUMAN;.;.;.	F	270;284;242;270;242;211;270;284;253;274;178;141	ENSP00000420333:L270F;ENSP00000419413:L284F;ENSP00000417304:L242F;ENSP00000351221:L270F;ENSP00000418412:L242F;ENSP00000417049:L211F;ENSP00000420440:L270F;ENSP00000418405:L284F;ENSP00000441592:L253F;ENSP00000376778:L274F;ENSP00000417403:L178F	ENSP00000351221:L270F	L	+	3	2	ARMC8	139443329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.963000	0.49184	2.737000	0.93849	0.563000	0.77884	TTG	.		0.378	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		T	137960639	G	T	137960639	3	4	28	1	0	0	0	0	1	0	0	0	958	1339	47	3	852	3	ARMC8	3	137960639	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	24584532	137960639	60061791	26	4497											
KCNAB1	7881	hgsc.bcm.edu	37	3	156175301	156175301	+	Silent	SNP	C	C	A	rs146234419	byFrequency	TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr3:156175301C>A	ENST00000490337.1	+	4	481	c.417C>A	c.(415-417)gcC>gcA	p.A139A	KCNAB1_ENST00000302490.8_Silent_p.A121A|KCNAB1_ENST00000471742.1_Silent_p.A128A|KCNAB1_ENST00000389636.5_Silent_p.A139A|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Silent_p.A121A	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	139					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)			TTGATACTGCCGAAGTCTATG	0.468																																					p.A139A		.											KCNAB1_ENST00000490337,NS,carcinoma,+2,3	KCNAB1_ENST00000490337	+2	0			c.C417A						.						248	215	226					3																	156175301		2203	4300	6503	SO:0001819	synonymous_variant	7881	exon4			TACTGCCGAAGTC	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.417C>A	3.37:g.156175301C>A		49	0		36	2	NM_172160	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	CCDS3174.1																																																																																			.		0.468	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		A	156175301	C	A	156175301	2	1	28	1	0	0	0	0	0	0	0	1	8036	639	23	2		2	KCNAB1	3	156175301	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	18214662	156175301	41847129	27	4498											
DRD5	1816	hgsc.bcm.edu	37	4	9784882	9784882	+	Missense_Mutation	SNP	A	A	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	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		.											DRD5,NS,carcinoma,0,1	DRD5	0	1	Substitution - Missense(1)	endometrium(1)	c.A1229G						.						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	37	1		33	3	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	.		0.567	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			G	9784882	A	G	9784882	3	3	28	1	0	0	0	0	1	0	0	0	4774	391	14	4	1231	4	DRD5	4	9784882	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09		9784882	181369394	28	4499											
BOD1L	259282	broad.mit.edu	37	4	13602293	13602293	+	Silent	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr4:13602293G>T	ENST00000040738.5	-	10	6366	c.6231C>A	c.(6229-6231)acC>acA	p.T2077T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2077						nucleus (GO:0005634)	DNA binding (GO:0003677)										AATCATTTGTGGTACTGGTGG	0.428																																					p.T2077T													.	.	.	0			c.C6231A						.						83	82	82					4																	13602293		2203	4300	6503	SO:0001819	synonymous_variant	259282	exon10			ATTTGTGGTACTG	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.6231C>A	4.37:g.13602293G>T		38	0		46	3	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																			.		0.428	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13602293	G	T	13602293	2	4	28	1	0	0	0	0	0	0	0	1	1485	1335	47	3		3	BOD1L	4	13602293	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	3817411	13602293	177551983	29	4500											
KDR	3791	hgsc.bcm.edu;bcgsc.ca	37	4	55953862	55953862	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr4:55953862G>T	ENST00000263923.4	-	27	3869	c.3574C>A	c.(3574-3576)Ctc>Atc	p.L1192I	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)	1192					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)	GGCAGAGAGAGTCCAGAATCC	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																											p.L1192I		.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	.	0			c.C3574A						.						162	140	147					4																	55953862		2203	4300	6503	SO:0001583	missense	3791	exon27			GAGAGAGTCCAGA	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.3574C>A	4.37:g.55953862G>T	ENSP00000263923:p.Leu1192Ile	68	0		80	5	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154614	0.78114	.	.	ENSG00000128052	ENST00000263923	T	0.76839	-1.05	5.61	5.61	0.85477	.	0.199401	0.45606	D	0.000351	T	0.77718	0.4172	L	0.40543	1.245	0.44207	D	0.997033	D	0.59357	0.985	P	0.50162	0.633	T	0.73623	-0.3924	10	0.23302	T	0.38	.	19.6231	0.95667	0.0:0.0:1.0:0.0	.	1192	P35968	VGFR2_HUMAN	I	1192	ENSP00000263923:L1192I	ENSP00000263923:L1192I	L	-	1	0	KDR	55648619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.757000	0.62213	2.659000	0.90383	0.561000	0.74099	CTC	.		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55953862	G	T	55953862	3	4	28	1	0	0	0	0	1	0	0	0	8166	1029	36	3	512	3	KDR	4	55953862	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	42351569	55953862	135200414	30	4501											
ANK2	287	hgsc.bcm.edu	37	4	114271399	114271400	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr4:114271399_114271400insA	ENST00000357077.4	+	37	4473_4474	c.4420_4421insA	c.(4420-4422)gaafs	p.E1474fs	ANK2_ENST00000394537.3_Frame_Shift_Ins_p.E1474fs|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.E1441fs|ANK2_ENST00000506722.1_Frame_Shift_Ins_p.E1465fs|ANK2_ENST00000510275.2_Frame_Shift_Ins_p.E126fs|ANK2_ENST00000509550.1_Frame_Shift_Ins_p.E650fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1474	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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)		TATGACATCAGAAAAAAGTAAG	0.337																																					p.E1474fs		.											.	.	.	0			c.4420_4421insA						.																																			SO:0001589	frameshift_variant	287	exon37			ACATCAGAAAAAA	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.4427dupA	4.37:g.114271405_114271405dupA	ENSP00000349588:p.Glu1474fs	97	0		127	42	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	CCDS3702.1																																																																																			.		0.337	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114271400	-	A	114271399	7	5	28	1	0	1	1	0	0	0	0	0	621	943	33	0	4631	0	ANK2	4	114271399	Frame_Shift_Ins	INS	-	TCGA-ZD-A8I3-01A-11D-A417-09	58317537	114271399	76882877	31	4502											
TLL1	7092	hgsc.bcm.edu	37	4	166999170	166999170	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr4:166999170C>A	ENST00000061240.2	+	18	3077	c.2430C>A	c.(2428-2430)caC>caA	p.H810Q	TLL1_ENST00000507499.1_Missense_Mutation_p.H833Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	810	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)		CTCCTGGCCACCGAATCAAAT	0.463																																					p.H810Q		.											TLL1,right_lower_lobe,carcinoma,0,1	TLL1	0	0			c.C2430A						.						118	101	106					4																	166999170		2203	4300	6503	SO:0001583	missense	7092	exon18			TGGCCACCGAATC	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.2430C>A	4.37:g.166999170C>A	ENSP00000061240:p.His810Gln	45	0		41	2	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	9.841	1.191075	0.21954	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.34275	1.37;1.37	5.78	2.55	0.30701	CUB (5);	0.125897	0.53938	U	0.000049	T	0.30947	0.0781	L	0.58669	1.825	0.80722	D	1	B;B	0.16802	0.019;0.001	B;B	0.19148	0.024;0.011	T	0.15723	-1.0427	10	0.41790	T	0.15	.	7.4937	0.27477	0.0:0.5801:0.2238:0.1961	.	833;810	E9PD25;O43897	.;TLL1_HUMAN	Q	810;833	ENSP00000061240:H810Q;ENSP00000426082:H833Q	ENSP00000061240:H810Q	H	+	3	2	TLL1	167218620	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	1.731000	0.38135	1.329000	0.45376	0.650000	0.86243	CAC	.		0.463	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			A	166999170	C	A	166999170	3	1	28	1	0	0	0	0	1	0	0	0	15992	506	18	3	2500	3	TLL1	4	166999170	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	52727771	166999170	24155106	32	4503											
FAM173B	134145	hgsc.bcm.edu;bcgsc.ca	37	5	10227607	10227607	+	Silent	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr5:10227607G>T	ENST00000511437.1	-	5	660	c.648C>A	c.(646-648)ggC>ggA	p.G216G	FAM173B_ENST00000510047.1_Silent_p.G199G|FAM173B_ENST00000280330.8_Silent_p.G52G|FAM173B_ENST00000510052.1_5'Flank	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	216						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTTTCACGGCCTCTAAAAG	0.488																																					p.G216G		.											.	.	.	0			c.C648A						.						122	121	121					5																	10227607		1960	4138	6098	SO:0001819	synonymous_variant	134145	exon5			TTCACGGCCTCTA		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.648C>A	5.37:g.10227607G>T		44	0		58	4	NM_199133	B4DT41|B4DXK2|E9PBZ4	Silent	SNP	ENST00000511437.1	37	CCDS43301.1																																																																																			.		0.488	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		T	10227607	G	T	10227607	2	4	28	1	0	0	0	0	0	0	0	1	5513	1190	42	3		3	FAM173B	5	10227607	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		10227607	170687653	33	4504											
CDH9	1007	hgsc.bcm.edu	37	5	26890641	26890641	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr5:26890641C>T	ENST00000231021.4	-	8	1458	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	429	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						ACCAAAAATACGGTCCATATC	0.403																																					p.R429H	Melanoma(8;187 585 15745 40864 52829)	.											.	.	.	0			c.G1286A						.						95	96	96					5																	26890641		2203	4300	6503	SO:0001583	missense	1007	exon8			AAAATACGGTCCA	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.1286G>A	5.37:g.26890641C>T	ENSP00000231021:p.Arg429His	93	0		94	4	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128966	0.56721	.	.	ENSG00000113100	ENST00000231021	T	0.52057	0.68	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.052671	0.64402	D	0.000001	T	0.43964	0.1271	L	0.56124	1.755	0.37266	D	0.907212	B;B	0.28820	0.053;0.224	B;B	0.33690	0.035;0.168	T	0.46857	-0.9161	9	.	.	.	.	10.68	0.45809	0.0:0.911:0.0:0.089	.	22;429	B4DFP0;Q9ULB4	.;CADH9_HUMAN	H	429	ENSP00000231021:R429H	.	R	-	2	0	CDH9	26926398	0.952000	0.32445	1.000000	0.80357	0.767000	0.43475	3.214000	0.51161	2.385000	0.81259	0.453000	0.30009	CGT	.		0.403	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26890641	C	T	26890641	3	4	28	1	0	0	0	0	1	0	0	0	3124	536	19	1	1103	1	CDH9	5	26890641	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	16663034	26890641	154024619	34	4505											
FARS2	10667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	5545474	5545474	+	Silent	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr6:5545474C>T	ENST00000324331.6	+	5	1302	c.966C>T	c.(964-966)atC>atT	p.I322I	FARS2_ENST00000274680.4_Silent_p.I322I			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	322					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)			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)	TAGCCATGATCCTCTACGACA	0.448																																					p.I322I		.											.	.	.	0			c.C966T						.						203	199	200					6																	5545474		2203	4300	6503	SO:0001819	synonymous_variant	10667	exon5			CATGATCCTCTAC	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.966C>T	6.37:g.5545474C>T		72	0		61	26	NM_006567	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	ENST00000324331.6	37	CCDS4494.1																																																																																			.		0.448	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		T	5545474	C	T	5545474	2	4	28	1	0	0	0	0	0	0	0	1	5700	845	30	3		3	FARS2	6	5545474	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		5545474	165569593	35	4506											
DAXX	1616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	33289677	33289677	+	Missense_Mutation	SNP	A	A	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr6:33289677A>T	ENST00000374542.5	-	2	230	c.26T>A	c.(25-27)gTg>gAg	p.V9E	DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.V9E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	9	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ATCATCCAGCACGATGATGCT	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																p.V21E		.		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	.	.	.	0			c.T62A						.						52	53	53					6																	33289677		2203	4300	6503	SO:0001583	missense	1616	exon2			TCCAGCACGATGA	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.26T>A	6.37:g.33289677A>T	ENSP00000363668:p.Val9Glu	15	0		15	8	NM_001141970	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976711	0.74360	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407;ENST00000446511	.	.	.	4.98	4.98	0.66077	.	0.130592	0.52532	D	0.000075	T	0.62938	0.2469	M	0.63428	1.95	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.65573	0.936;0.936	T	0.68591	-0.5368	9	0.87932	D	0	-17.5717	11.0145	0.47681	1.0:0.0:0.0:0.0	.	21;9	B4E1C1;Q9UER7	.;DAXX_HUMAN	E	9	.	ENSP00000266000:V9E	V	-	2	0	DAXX	33397655	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.778000	0.62368	2.102000	0.63906	0.444000	0.29173	GTG	.		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			T	33289677	A	T	33289677	3	4	28	1	0	0	0	0	1	0	0	0	4252	159	6	5	2224	5	DAXX	6	33289677	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	27744203	33289677	137825390	36	4507											
TULP1	7287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	35479510	35479510	+	Silent	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr6:35479510G>A	ENST00000229771.6	-	4	343	c.264C>T	c.(262-264)taC>taT	p.Y88Y	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	88					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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGAACCTGGCGTAGACCGTCT	0.721																																					p.Y88Y	GBM(55;1027 1091 11115 23439)	.											.	.	.	0			c.C264T						.						9	10	10					6																	35479510		2188	4277	6465	SO:0001819	synonymous_variant	7287	exon4			CCTGGCGTAGACC	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.264C>T	6.37:g.35479510G>A		45	0		55	18	NM_003322	O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	CCDS4807.1																																																																																			.		0.721	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			A	35479510	G	A	35479510	2	1	28	1	0	0	0	0	0	0	0	1	16822	1140	40	1		1	TULP1	6	35479510	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	2189833	35479510	135635557	37	4508											
C6orf154	221424	bcgsc.ca	37	6	43476117	43476117	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr6:43476117G>T	ENST00000372441.1	-	3	1375	c.475C>A	c.(475-477)Cct>Act	p.P159T		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	159																	CAGCCCTTAGGGGTGATGCCA	0.592																																					p.P159T													.	.	.	0			c.C475A						.						56	53	54					6																	43476117		2203	4300	6503	SO:0001583	missense	221424	exon3			CCTTAGGGGTGAT		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.475C>A	6.37:g.43476117G>T	ENSP00000361518:p.Pro159Thr	54	0		53	4	NM_001012974		Missense_Mutation	SNP	ENST00000372441.1	37	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111531	0.37242	.	.	ENSG00000204052	ENST00000372441	T	0.52526	0.66	5.44	5.44	0.79542	.	0.315698	0.35646	N	0.003063	T	0.17450	0.0419	L	0.31476	0.935	0.35045	D	0.760107	B	0.23442	0.085	B	0.16722	0.016	T	0.07693	-1.0759	9	.	.	.	-7.0331	9.4854	0.38926	0.0:0.1429:0.6883:0.1687	.	159	Q5JTD7	CF154_HUMAN	T	159	ENSP00000361518:P159T	.	P	-	1	0	C6orf154	43584095	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.993000	0.29680	2.533000	0.85409	0.650000	0.86243	CCT	.		0.592	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		T	43476117	G	T	43476117	3	4	28	1	0	0	0	0	1	0	0	0	2346	1232	43	3	491	3	C6orf154	6	43476117	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	7996607	43476117	127638950	38	4509											
PKHD1	5314	broad.mit.edu;bcgsc.ca	37	6	51890257	51890257	+	Missense_Mutation	SNP	G	G	C			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr6:51890257G>C	ENST00000371117.3	-	32	4626	c.4351C>G	c.(4351-4353)Ccc>Gcc	p.P1451A	PKHD1_ENST00000340994.4_Missense_Mutation_p.P1451A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1451	IPT/TIG 9.				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)					CCAGGCAAGGGGTCACCCTCC	0.532																																					p.P1451A													.	PKHD1	927	0			c.C4351G						.						67	70	69					6																	51890257		2203	4300	6503	SO:0001583	missense	5314	exon32			GCAAGGGGTCACC	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.4351C>G	6.37:g.51890257G>C	ENSP00000360158:p.Pro1451Ala	32	0		34	10	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624794	0.03636	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87029	-2.0;-2.2	5.87	0.858	0.19030	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.682577	0.14712	N	0.302910	T	0.64271	0.2583	L	0.51422	1.61	0.09310	N	1	B;B	0.27013	0.081;0.166	B;B	0.28916	0.05;0.096	T	0.55153	-0.8185	10	0.07644	T	0.81	.	9.0561	0.36405	0.4582:0.0:0.5418:0.0	.	1451;1451	P08F94-2;P08F94	.;PKHD1_HUMAN	A	1451	ENSP00000360158:P1451A;ENSP00000341097:P1451A	ENSP00000341097:P1451A	P	-	1	0	PKHD1	51998216	0.033000	0.19621	0.191000	0.23289	0.318000	0.28184	0.891000	0.28309	0.065000	0.16485	-0.136000	0.14681	CCC	.		0.532	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51890257	G	C	51890257	3	2	28	1	0	0	0	0	1	0	0	0	12010	1232	43	5	8056	5	PKHD1	6	51890257	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	8414140	51890257	119224810	39	4510											
AIM1	202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	106991412	106991412	+	Missense_Mutation	SNP	C	C	G	rs572684440		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr6:106991412C>G	ENST00000369066.3	+	9	4242	c.3755C>G	c.(3754-3756)gCg>gGg	p.A1252G	AIM1_ENST00000535438.1_Missense_Mutation_p.A71G	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)		ACAGAAGAGGCGACTGGAGAC	0.408																																					p.A1252G		.											.	.	.	0			c.C3755G						.						273	262	266					6																	106991412		2203	4300	6503	SO:0001583	missense	202	exon9			AAGAGGCGACTGG	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.3755C>G	6.37:g.106991412C>G	ENSP00000358062:p.Ala1252Gly	63	0		40	22	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904477	0.17760	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.74106	-0.64;-0.81;-0.75	5.32	2.53	0.30540	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	1.224440	0.05373	N	0.535756	T	0.47525	0.1450	L	0.29908	0.895	0.09310	N	1	P;B	0.34934	0.476;0.336	B;B	0.40825	0.341;0.272	T	0.51411	-0.8709	10	0.51188	T	0.08	.	3.8938	0.09130	0.3604:0.3999:0.0:0.2397	.	71;1252	B4DU04;Q9Y4K1	.;AIM1_HUMAN	G	1252;71;71	ENSP00000358062:A1252G;ENSP00000391419:A71G;ENSP00000439183:A71G	ENSP00000358062:A1252G	A	+	2	0	AIM1	107098105	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.716000	0.04991	0.359000	0.24239	0.650000	0.86243	GCG	.		0.408	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			G	106991412	C	G	106991412	3	3	28	1	0	0	0	0	1	0	0	0	430	768	27	5	3789	5	AIM1	6	106991412	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	55101155	106991412	64123655	40	4511											
C7orf27	221927	hgsc.bcm.edu	37	7	2586990	2586990	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr7:2586990C>T	ENST00000340611.4	-	3	506	c.250G>A	c.(250-252)Gca>Aca	p.A84T		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	84					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.A84T(1)		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						TCCTGGGCTGCGAAGGTTCCT	0.627																																					p.A84T		.											BRAT1,NS,carcinoma,0,1	BRAT1	0	1	Substitution - Missense(1)	endometrium(1)	c.G250A						.						75	68	71					7																	2586990		2203	4300	6503	SO:0001583	missense	221927	exon3			GGGCTGCGAAGGT	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.250G>A	7.37:g.2586990C>T	ENSP00000339637:p.Ala84Thr	52	0		44	2	NM_152743	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227027	0.58668	.	.	ENSG00000106009	ENST00000340611	T	0.22945	1.93	5.01	5.01	0.66863	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.77616	2.38	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.58896	-0.7555	10	0.87932	D	0	-13.1456	16.0942	0.81110	0.0:1.0:0.0:0.0	.	84;84	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	T	84	ENSP00000339637:A84T	ENSP00000339637:A84T	A	-	1	0	BRAT1	2553516	0.994000	0.37717	0.171000	0.22900	0.121000	0.20230	3.582000	0.53921	2.331000	0.79229	0.650000	0.86243	GCA	.		0.627	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		T	2586990	C	T	2586990	3	4	28	1	0	0	0	0	1	0	0	0	2389	768	27	1	2263	1	C7orf27	7	2586990	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		2586990	156551673	41	4512											
ZNF12	7559	broad.mit.edu	37	7	6731408	6731408	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr7:6731408delT	ENST00000405858.1	-	5	1706	c.1165delA	c.(1165-1167)accfs	p.T389fs	ZNF12_ENST00000404360.1_Frame_Shift_Del_p.T315fs|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Frame_Shift_Del_p.T351fs|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	389					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGCGAGAAGGTTTTCCCACAG	0.428																																					p.T389fs													.	ZNF12	53	0			c.1165delA						.						69	70	70					7																	6731408		2102	4252	6354	SO:0001589	frameshift_variant	7559	exon5			AGAAGGTTTTCCC	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1165delA	7.37:g.6731408delT	ENSP00000385939:p.Thr389fs	26	0		6	2	NM_016265	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Frame_Shift_Del	DEL	ENST00000405858.1	37	CCDS47538.1																																																																																			.		0.428	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		-	6731408	T	-	6731408	7	5	28	1	0	1	0	1	0	0	0	0	17766	1725	60	0	932	0	ZNF12	7	6731408	Frame_Shift_Del	DEL	T	TCGA-ZD-A8I3-01A-11D-A417-09	4144418	6731408	152407255	42	4513											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44804019	44804019	+	Splice_Site	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr7:44804019G>T	ENST00000309315.4	+	14	1985	c.1862G>T	c.(1861-1863)tGc>tTc	p.C621F	ZMIZ2_ENST00000441627.1_Splice_Site_p.C621F|ZMIZ2_ENST00000413916.1_Splice_Site_p.C563F|ZMIZ2_ENST00000433667.1_Splice_Site_p.C589F|ZMIZ2_ENST00000265346.7_Splice_Site_p.C595F	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	621					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						TCTCTACAGTGCTTTGACCTG	0.502																																					p.C621F	NSCLC(20;604 852 1948 16908 50522)	.											ZMIZ2,NS,carcinoma,0,1	ZMIZ2	0	0			c.G1862T						.						94	102	100					7																	44804019		2194	4299	6493	SO:0001630	splice_region_variant	83637	exon14			TACAGTGCTTTGA	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.1861-1G>T	7.37:g.44804019G>T		29	0		18	2	NM_031449	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743576	0.69418	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01	5.05	5.05	0.67936	Zinc finger, MIZ-type (2);	0.000000	0.64402	D	0.000003	D	0.98773	0.9587	H	0.96430	3.82	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	0.99556	1.0967	10	0.87932	D	0	-13.6695	17.3284	0.87256	0.0:0.0:1.0:0.0	.	595;621;563	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	F	563;621;621;589;595;624	ENSP00000409648:C563F;ENSP00000311778:C621F;ENSP00000414723:C621F;ENSP00000396601:C589F;ENSP00000265346:C595F	ENSP00000265346:C595F	C	+	2	0	ZMIZ2	44770544	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	9.229000	0.95273	2.639000	0.89480	0.491000	0.48974	TGC	.		0.502	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	Missense_Mutation	T	44804019	G	T	44804019	5	4	28	1	0	0	0	0	0	0	1	0	17745	1333	46	3	1912	3	ZMIZ2	7	44804019	Splice_Site	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	38072611	44804019	114334644	43	4514											
ABCA13	154664	hgsc.bcm.edu	37	7	48327660	48327660	+	Silent	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr7:48327660G>A	ENST00000435803.1	+	20	8964	c.8940G>A	c.(8938-8940)gcG>gcA	p.A2980A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2980					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A2980A(2)|p.A2925A(1)		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						TCACTTTGGCGCAGGACCACT	0.438																																					p.A2980A		.											ABCA13_ENST00000435803,NS,carcinoma,0,2	ABCA13_ENST00000435803	0	3	Substitution - coding silent(3)	prostate(3)	c.G8940A						.						146	144	144					7																	48327660		1873	4104	5977	SO:0001819	synonymous_variant	154664	exon20			TTTGGCGCAGGAC	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.8940G>A	7.37:g.48327660G>A		35	0		47	2	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.		0.438	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48327660	G	A	48327660	2	1	28	1	0	0	0	0	0	0	0	1	31	1074	38	1		1	ABCA13	7	48327660	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	3523641	48327660	110811003	44	4515											
TRIM56	81844	hgsc.bcm.edu	37	7	100732027	100732027	+	Silent	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr7:100732027G>T	ENST00000306085.6	+	3	1731	c.1434G>T	c.(1432-1434)ctG>ctT	p.L478L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	478					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)	p.L478L(2)		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)					GCCCAGCCCTGGGGCCGAATC	0.622																																					p.L478L	Ovarian(89;1092 1379 22756 38989 39611)	.											TRIM56_ENST00000306085,NS,carcinoma,0,2	TRIM56_ENST00000306085	0	2	Substitution - coding silent(2)	lung(2)	c.G1434T						.						56	66	63					7																	100732027		1922	4116	6038	SO:0001819	synonymous_variant	81844	exon3			AGCCCTGGGGCCG	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.1434G>T	7.37:g.100732027G>T		32	0		29	2	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																			.		0.622	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		T	100732027	G	T	100732027	2	4	28	1	0	0	0	0	0	0	0	1	16578	1335	47	3		3	TRIM56	7	100732027	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	52404367	100732027	58406636	45	4516											
GALNTL5	168391	hgsc.bcm.edu	37	7	151699823	151699823	+	Missense_Mutation	SNP	G	G	T	rs149988530		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr7:151699823G>T	ENST00000392800.2	+	6	937	c.683G>T	c.(682-684)aGc>aTc	p.S228I	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S228I|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	228	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.S228I(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)		TTCCTGGACAGCCACTGTGAG	0.502																																					p.S228I		.											GALNTL5,NS,carcinoma,0,1	GALNTL5	0	1	Substitution - Missense(1)	lung(1)	c.G683T						.						84	78	80					7																	151699823		2203	4300	6503	SO:0001583	missense	168391	exon6			TGGACAGCCACTG	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.683G>T	7.37:g.151699823G>T	ENSP00000376548:p.Ser228Ile	42	0		44	2	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391875	0.83011	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.62232	0.04;0.04	4.83	4.83	0.62350	Glycosyl transferase, family 2 (1);	0.000000	0.56097	D	0.000030	D	0.86711	0.5998	H	0.98883	4.36	0.51012	D	0.999907	D	0.89917	1.0	D	0.81914	0.995	D	0.90978	0.4825	10	0.87932	D	0	.	13.2335	0.59957	0.0:0.1593:0.8407:0.0	.	228	Q7Z4T8	GLTL5_HUMAN	I	228	ENSP00000392582:S228I;ENSP00000376548:S228I	ENSP00000376548:S228I	S	+	2	0	GALNTL5	151330756	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.267000	0.95665	2.673000	0.90976	0.650000	0.86243	AGC	.		0.502	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		T	151699823	G	T	151699823	3	4	28	1	0	0	0	0	1	0	0	0	6249	971	34	3	701	3	GALNTL5	7	151699823	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	50967796	151699823	7438840	46	4517											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	2976042	2976042	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr8:2976042G>C	ENST00000520002.1	-	43	6867	c.6312C>G	c.(6310-6312)taC>taG	p.Y2104*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y2103*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y2104*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y2103*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y2104*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y2104*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2104	Sushi 12. {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)		GCCCCACGCTGTAATCCGAGT	0.428																																					p.Y2103X		.											.	.	.	0			c.C6309G						.						150	146	147					8																	2976042		2010	4174	6184	SO:0001587	stop_gained	64478	exon42			CACGCTGTAATCC			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.6312C>G	8.37:g.2976042G>C	ENSP00000430733:p.Tyr2104*	80	0		72	14	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.284769|13.284769	0.99732|0.99732	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|.	.|.	.|.	5.03|5.03	1.85|1.85	0.25348|0.25348	.|.	.|0.080390	.|0.51477	.|D	.|0.000094	T|.	0.28333|.	0.0700|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17077|.	-1.0381|.	4|.	.|0.02654	.|T	.|1	.|.	8.5485|8.5485	0.33438|0.33438	0.4673:0.0:0.5327:0.0|0.4673:0.0:0.5327:0.0	.|.	.|.	.|.	.|.	E|X	1584|2104;2104;1965;2103;2103	.|.	.|ENSP00000320445:Y1965X	Q|Y	-|-	1|3	0|2	CSMD1|CSMD1	2963449|2963449	1.000000|1.000000	0.71417|0.71417	0.299000|0.299000	0.25016|0.25016	0.299000|0.299000	0.27559|0.27559	1.283000|1.283000	0.33237|0.33237	0.151000|0.151000	0.19162|0.19162	-0.251000|-0.251000	0.11542|0.11542	CAG|TAC	.		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	2976042	G	C	2976042	4	2	28	1	0	0	0	0	0	1	0	0	3953	1372	48	5	4501	5	CSMD1	8	2976042	Nonsense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		2976042	143387980	47	4518											
WHSC1L1	54904	hgsc.bcm.edu	37	8	38157087	38157087	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr8:38157087G>T	ENST00000317025.8	-	15	3150	c.2633C>A	c.(2632-2634)tCa>tAa	p.S878*	WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S878*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	878					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)			CATGGGGTCTGAATGGTCCTG	0.398			T	NUP98	AML																																p.S878X		.		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	.	.	0			c.C2633A						.						102	94	96					8																	38157087		1902	4119	6021	SO:0001587	stop_gained	54904	exon15			GGGTCTGAATGGT	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.2633C>A	8.37:g.38157087G>T	ENSP00000313983:p.Ser878*	100	0		83	3	NM_023034	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	46	12.252945	0.99650	.	.	ENSG00000147548	ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.83	5.83	0.93111	.	0.000000	0.39759	U	0.001261	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	.	.	.	X	878;815;878	.	ENSP00000313983:S878X	S	-	2	0	WHSC1L1	38276244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.747000	0.94245	0.650000	0.86243	TCA	.		0.398	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		T	38157087	G	T	38157087	4	4	28	1	0	0	0	0	0	1	0	0	17412	1294	45	3	1720	3	WHSC1L1	8	38157087	Nonsense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	35181045	38157087	108206935	48	4519											
RB1CC1	9821	hgsc.bcm.edu	37	8	53570077	53570077	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr8:53570077G>T	ENST00000025008.5	-	15	2835	c.2312C>A	c.(2311-2313)gCg>gAg	p.A771E	RB1CC1_ENST00000539297.1_Missense_Mutation_p.A771E|RB1CC1_ENST00000435644.2_Missense_Mutation_p.A771E|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	771					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTGTCTATCGCATTGATAAC	0.373																																					p.A771E	GBM(180;1701 2102 13475 42023 52570)	.											RB1CC1,colon,carcinoma,0,2	RB1CC1	0	0			c.C2312A						.						142	132	135					8																	53570077		2203	4300	6503	SO:0001583	missense	9821	exon15			TCTATCGCATTGA	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2312C>A	8.37:g.53570077G>T	ENSP00000025008:p.Ala771Glu	43	0		31	2	NM_001083617	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298946	0.81025	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27256	1.69;1.68;1.68	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.06899	-1.0801	10	0.30078	T	0.28	-16.8463	19.3789	0.94523	0.0:0.0:1.0:0.0	.	771;771	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	E	771	ENSP00000025008:A771E;ENSP00000396067:A771E;ENSP00000445960:A771E	ENSP00000025008:A771E	A	-	2	0	RB1CC1	53732630	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.374000	0.97172	2.652000	0.90054	0.563000	0.77884	GCG	.		0.373	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		T	53570077	G	T	53570077	3	4	28	1	0	0	0	0	1	0	0	0	13144	1087	38	2	2512	2	RB1CC1	8	53570077	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	15412990	53570077	92793945	49	4520											
RGS20	8601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	54852270	54852270	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr8:54852270T>A	ENST00000297313.3	+	3	737	c.645T>A	c.(643-645)tgT>tgA	p.C215*	RGS20_ENST00000276500.4_Nonsense_Mutation_p.C68*|RGS20_ENST00000522225.1_Intron|RGS20_ENST00000344277.6_Nonsense_Mutation_p.C100*	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	215	Poly-Cys.				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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			ggtgctgctgttgtagctgct	0.627																																					p.C215X		.											.	.	.	0			c.T645A						.						40	44	42					8																	54852270		2151	4228	6379	SO:0001587	stop_gained	8601	exon3			CTGCTGTTGTAGC	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.645T>A	8.37:g.54852270T>A	ENSP00000297313:p.Cys215*	24	0		39	14	NM_170587	Q96BG9	Nonsense_Mutation	SNP	ENST00000297313.3	37	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220547	0.79464	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000276500	.	.	.	4.81	-5.79	0.02354	.	0.432597	0.31221	N	0.008039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3318	0.83023	0.0:0.1339:0.0:0.8661	.	.	.	.	X	215;100;68	.	ENSP00000276500:C68X	C	+	3	2	RGS20	55014823	0.984000	0.35163	0.818000	0.32626	0.922000	0.55478	0.184000	0.16939	-1.138000	0.02884	-0.462000	0.05337	TGT	.		0.627	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			A	54852270	T	A	54852270	4	1	28	1	0	0	0	0	0	1	0	0	13348	1731	60	5	728	5	RGS20	8	54852270	Nonsense_Mutation	SNP	T	TCGA-ZD-A8I3-01A-11D-A417-09	1282193	54852270	91511752	50	4521											
INTS8	55656	broad.mit.edu	37	8	95841228	95841228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr8:95841228G>T	ENST00000523731.1	+	5	677	c.544G>T	c.(544-546)Gag>Tag	p.E182*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.E182*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	182					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACAGGAAAAAGAGCTAACAGA	0.328																																					p.E182X													.	INTS8	92	0			c.G544T						.						115	108	111					8																	95841228		2202	4300	6502	SO:0001587	stop_gained	55656	exon5			GAAAAAGAGCTAA	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.544G>T	8.37:g.95841228G>T	ENSP00000430338:p.Glu182*	29	0		37	3	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Nonsense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	36|36|36	5.900314|5.900314|5.900314	0.97081|0.97081|0.97081	.|.|.	.|.|.	ENSG00000164941|ENSG00000164941|ENSG00000164941	ENST00000522171;ENST00000519457;ENST00000519053;ENST00000523731;ENST00000447247|ENST00000520526|ENST00000521860	.|.|.	.|.|.	.|.|.	5.06|5.06|5.06	5.06|5.06|5.06	0.68205|0.68205|0.68205	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.73814|0.73814	.|0.3635|0.3635	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.73353|0.73353	.|-0.4009|-0.4009	.|4|3	0.33141|0.87932|.	T|D|.	0.24|0|.	-19.9848|-19.9848|-19.9848	17.7762|17.7762|17.7762	0.88508|0.88508|0.88508	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	141;135;73;182;182|3|169	.|.|.	ENSP00000343274:E182X|ENSP00000430180:K3N|.	E|K|R	+|+|+	1|3|2	0|2|0	INTS8|INTS8|INTS8	95910404|95910404|95910404	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	6.819000|6.819000|6.819000	0.75262|0.75262|0.75262	2.499000|2.499000|2.499000	0.84300|0.84300|0.84300	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GAG|AAG|AGA	.		0.328	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		T	95841228	G	T	95841228	4	4	28	1	0	0	0	0	0	1	0	0	7811	943	33	3	562	3	INTS8	8	95841228	Nonsense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	40988958	95841228	50522794	51	4522											
TSNARE1	203062	bcgsc.ca	37	8	143396383	143396383	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr8:143396383C>A	ENST00000307180.3	-	8	1172	c.1055G>T	c.(1054-1056)tGc>tTc	p.C352F	TSNARE1_ENST00000519651.1_Missense_Mutation_p.C132F|TSNARE1_ENST00000524325.1_Missense_Mutation_p.C351F|TSNARE1_ENST00000520166.1_Missense_Mutation_p.C351F|TSNARE1_ENST00000518928.1_5'UTR	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	352					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)					CACTCCATAGCACTGAATGGC	0.632																																					p.C352F													.	TSNARE1	59	0			c.G1055T						.						131	93	106					8																	143396383		2203	4300	6503	SO:0001583	missense	203062	exon8			CCATAGCACTGAA			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.1055G>T	8.37:g.143396383C>A	ENSP00000303437:p.Cys352Phe	22	0		19	3	NM_145003	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	2.182	-0.387411	0.04932	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.21	0.298	0.15766	t-SNARE (1);	0.553031	0.13133	U	0.411276	T	0.17577	0.0422	N	0.22421	0.69	0.19300	N	0.999979	B;B;B;B	0.28055	0.171;0.199;0.171;0.171	B;B;B;B	0.23018	0.021;0.043;0.021;0.021	T	0.14504	-1.0470	10	0.56958	D	0.05	.	6.5624	0.22493	0.0:0.5587:0.0:0.4413	.	351;132;352;352	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	F	351;352;351;132	ENSP00000428763:C351F;ENSP00000303437:C352F;ENSP00000427770:C351F;ENSP00000429679:C132F	ENSP00000303437:C352F	C	-	2	0	TSNARE1	143394290	0.001000	0.12720	0.004000	0.12327	0.018000	0.09664	0.132000	0.15891	-0.303000	0.08856	0.650000	0.86243	TGC	.		0.632	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143396383	C	A	143396383	3	1	28	1	0	0	0	0	1	0	0	0	16678	710	25	3	510	3	TSNARE1	8	143396383	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	47555155	143396383	2967639	52	4523											
GLIS3	169792	broad.mit.edu	37	9	4118102	4118102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:4118102delG	ENST00000324333.10	-	3	1104	c.911delC	c.(910-912)ccafs	p.P306fs	GLIS3_ENST00000381971.3_Frame_Shift_Del_p.P461fs	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	306	Pro-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)		GTAAgggggtggggggcctgg	0.731																																					p.P459fs													.	GLIS3	152	0			c.1376delC						.						9	12	11					9																	4118102		1889	3860	5749	SO:0001589	frameshift_variant	169792	exon4			GGGGGTGGGGGGC	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.911delC	9.37:g.4118102delG	ENSP00000325494:p.Pro306fs	10	0		7	2	NM_001042413	B1AL19|Q1PHK5	Frame_Shift_Del	DEL	ENST00000324333.10	37	CCDS6451.1																																																																																			.		0.731	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		-	4118102	G	-	4118102	7	5	28	1	0	1	0	1	0	0	0	0	6473	1348	47	0	1448	0	GLIS3	9	4118102	Frame_Shift_Del	DEL	G	TCGA-ZD-A8I3-01A-11D-A417-09		4118102	137095329	53	4524											
GLIS3	169792	bcgsc.ca	37	9	4286193	4286193	+	Missense_Mutation	SNP	C	C	T	rs200195201		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:4286193C>T	ENST00000381971.3	-	2	826	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	312	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)		CAGATGGATGCGGCTCTCAGC	0.567																																					p.R78H													.	GLIS3	152	0			c.G233A						.	C	HIS/ARG	1,4105		0,1,2052	74	79	77		233	2.9	0.9	9		77	0,8388		0,0,4194	no	missense	GLIS3	NM_001042413.1	29	0,1,6246	TT,TC,CC		0.0,0.0244,0.0080	benign	78/931	4286193	1,12493	2053	4194	6247	SO:0001583	missense	169792	exon2			TGGATGCGGCTCT	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.233G>A	9.37:g.4286193C>T	ENSP00000371398:p.Arg78His	27	0		28	4	NM_001042413	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000381971.3	37	CCDS43784.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374006	0.42105	2.44E-4	0.0	ENSG00000107249	ENST00000381971;ENST00000477901;ENST00000481827	T	0.10192	2.9	5.75	2.92	0.33932	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	0.999991	B;P	0.35844	0.226;0.524	B;B	0.30855	0.004;0.121	T	0.38457	-0.9660	9	0.20046	T	0.44	.	4.9974	0.14247	0.1341:0.1175:0.628:0.1204	.	78;78	F8WEV9;Q8NEA6-2	.;.	H	78	ENSP00000371398:R78H	ENSP00000371398:R78H	R	-	2	0	GLIS3	4276193	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	2.079000	0.41577	0.791000	0.33826	-0.128000	0.14901	CGC	C|0.999;T|0.001		0.567	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		T	4286193	C	T	4286193	3	4	28	1	0	0	0	0	1	0	0	0	6473	768	27	1	2599	1	GLIS3	9	4286193	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	168091	4286193	136927238	54	4525											
CDKN2A	1029	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	A	rs11552822		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:21971108C>A	ENST00000304494.5	-	2	520	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R98L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	84			D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822). {ECO:0000269|PubMed:10874641}.		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?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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)		CGGGCAGCGTCGTGCACGGGT	0.741	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.R98L		.											CDKN2A_ENST00000498124,left_upper_lobe,carcinoma,0,35	CDKN2A_ENST00000498124	0	1396	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(23)|Deletion - Frameshift(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(170)|lung(154)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(54)|upper_aerodigestive_tract(52)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(15)|thyroid(13)|NS(12)|stomach(12)|prostate(11)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|genital_tract(1)	c.G293T	GRCh37	CM085316|CM990358	CDKN2A	M	rs11552822	.						13	16	15					9																	21971108		2178	4258	6436	SO:0001583	missense	1029	exon2			CAGCGTCGTGCAC	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	ENST00000304494.5:c.250G>T	9.37:g.21971108C>A	ENSP00000307101:p.Asp84Tyr	21	0		12	7	NM_058195	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.137500|5.137500	0.94517|0.94517	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;D	0.94232|0.84070	-3.38;-3.38|-1.8;-1.73	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.87744|0.87744	0.6254|0.6254	L|L	0.32530|0.32530	0.975|0.975	0.49213|0.49213	D|D	0.999766|0.999766	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.91635	1.0|0.999	D|D	0.88398|0.88398	0.3013|0.3013	9|10	0.02654|0.87932	T|D	1|0	-18.6892|-18.6892	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs11552822|rs11552822	84|139	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	Y|L	84|139;98	ENSP00000307101:D84Y;ENSP00000394932:D84Y|ENSP00000355153:R139L;ENSP00000432664:R98L	ENSP00000307101:D84Y|ENSP00000355153:R139L	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961108|21961108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.879000|6.879000	0.75572|0.75572	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAC|CGA	.		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		A	21971108	C	A	21971108	3	1	28	1	0	0	0	0	1	0	0	0	3168	884	31	2	228	2	CDKN2A	9	21971108	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	17684915	21971108	119242323	55	4526											
C9orf72	203228	hgsc.bcm.edu	37	9	27566901	27566901	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:27566901C>T	ENST00000380003.3	-	2	281	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	C9orf72_ENST00000379997.3_Missense_Mutation_p.R73Q|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	73					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.N68_N74delNGEILRN(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)		CTCTGCATTTCGAAGGATTTC	0.388																																					p.R73Q		.											C9orf72,caecum,carcinoma,0,2	C9orf72	0	1	Deletion - In frame(1)	ovary(1)	c.G218A						.						101	97	98					9																	27566901		2203	4300	6503	SO:0001583	missense	203228	exon2			GCATTTCGAAGGA	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.218G>A	9.37:g.27566901C>T	ENSP00000369339:p.Arg73Gln	54	0		37	2	NM_018325	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849767	0.91277	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.43688	0.94;0.94;0.94	5.85	4.94	0.65067	.	0.061358	0.64402	D	0.000002	T	0.50871	0.1641	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.72982	0.979;0.963	T	0.38628	-0.9652	9	.	.	.	.	15.3672	0.74531	0.0:0.9322:0.0:0.0678	.	73;73	Q96LT7-2;Q96LT7	.;CI072_HUMAN	Q	73	ENSP00000369339:R73Q;ENSP00000369333:R73Q;ENSP00000369331:R73Q	.	R	-	2	0	C9orf72	27556901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.753000	0.94483	0.655000	0.94253	CGA	.		0.388	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		T	27566901	C	T	27566901	3	4	28	1	0	0	0	0	1	0	0	0	2502	884	31	1	1271	1	C9orf72	9	27566901	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	5595793	27566901	113646530	56	4527											
UBQLN1	29979	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	86297904	86297904	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:86297904G>T	ENST00000376395.4	-	3	933	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S137Y	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	137					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						ACCAGATGTAGAGTTACTATT	0.408																																					p.S137Y	Melanoma(186;1284 2073 12755 14558 18426)	.											.	.	.	0			c.C410A						.						171	155	161					9																	86297904		2203	4300	6503	SO:0001583	missense	29979	exon3			GATGTAGAGTTAC	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.410C>A	9.37:g.86297904G>T	ENSP00000365576:p.Ser137Tyr	70	0		38	4	NM_053067	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303003	0.81136	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	D;D	0.81659	-1.52;-1.52	5.11	5.11	0.69529	.	0.234157	0.38492	N	0.001679	T	0.74981	0.3788	L	0.52573	1.65	0.37641	D	0.922056	B;B	0.19583	0.037;0.021	B;B	0.23716	0.048;0.021	T	0.70676	-0.4806	10	0.02654	T	1	.	18.911	0.92485	0.0:0.0:1.0:0.0	.	137;137	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	Y	137	ENSP00000365576:S137Y;ENSP00000257468:S137Y	ENSP00000257468:S137Y	S	-	2	0	UBQLN1	85487724	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.681000	0.61663	2.529000	0.85273	0.655000	0.94253	TCT	.		0.408	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		T	86297904	G	T	86297904	3	4	28	1	0	0	0	0	1	0	0	0	16945	942	33	3	1395	3	UBQLN1	9	86297904	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	58731003	86297904	54915527	57	4528											
IARS	3376	hgsc.bcm.edu;bcgsc.ca	37	9	95003186	95003186	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:95003186C>T	ENST00000375643.3	-	30	3501	c.3235G>A	c.(3235-3237)Gct>Act	p.A1079T	IARS_ENST00000447699.2_Missense_Mutation_p.A969T|IARS_ENST00000443024.2_Missense_Mutation_p.A1079T|IARS_ENST00000375629.3_Missense_Mutation_p.A132T|IARS_ENST00000375627.1_Missense_Mutation_p.A132T|IARS_ENST00000474340.1_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1079					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)	TATGCACAAGCAGGACCAGGA	0.403																																					p.A1079T		.											.	.	.	0			c.G3235A						.						155	118	131					9																	95003186		2203	4300	6503	SO:0001583	missense	3376	exon30			CACAAGCAGGACC	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.3235G>A	9.37:g.95003186C>T	ENSP00000364794:p.Ala1079Thr	65	0		44	4	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992316	0.74703	.	.	ENSG00000196305	ENST00000375643;ENST00000451588;ENST00000375629;ENST00000443024;ENST00000543028;ENST00000447699;ENST00000375660;ENST00000421189;ENST00000436450;ENST00000375627	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	6.08	6.08	0.98989	.	0.045487	0.85682	D	0.000000	T	0.67002	0.2847	M	0.66939	2.045	0.80722	D	1	P;B;B	0.44429	0.835;0.04;0.04	B;B;B	0.42522	0.39;0.051;0.051	T	0.68269	-0.5453	10	0.51188	T	0.08	-9.7511	20.2672	0.98462	0.0:1.0:0.0:0.0	.	589;1079;924	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	T	1079;96;132;1079;88;969;1079;88;96;132	ENSP00000364794:A1079T;ENSP00000364780:A132T;ENSP00000406448:A1079T;ENSP00000415020:A969T;ENSP00000364778:A132T	ENSP00000364778:A132T	A	-	1	0	IARS	94043007	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.769000	0.62300	2.894000	0.99253	0.591000	0.81541	GCT	.		0.403	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		T	95003186	C	T	95003186	3	4	28	1	0	0	0	0	1	0	0	0	7500	710	25	3	573	3	IARS	9	95003186	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	8705282	95003186	46210245	58	4529											
HIATL1	84641	hgsc.bcm.edu	37	9	97177491	97177491	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:97177491C>A	ENST00000375344.3	+	2	429	c.160C>A	c.(160-162)Ctt>Att	p.L54I	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	54					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)				TGTCATCTTCCTTGAATTCTT	0.373																																					p.L54I	Pancreas(77;1260 1915 1973 10423)	.											.	.	.	0			c.C160A						.						213	192	199					9																	97177491		2203	4300	6503	SO:0001583	missense	84641	exon2			ATCTTCCTTGAAT	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.160C>A	9.37:g.97177491C>A	ENSP00000364493:p.Leu54Ile	112	0		98	4	NM_032558	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	.	16.57	3.159860	0.57368	.	.	ENSG00000148110	ENST00000375344	T	0.60797	0.16	3.8	3.8	0.43715	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.344301	0.21380	N	0.075491	T	0.66645	0.2810	M	0.76328	2.33	0.80722	D	1	P	0.47253	0.892	P	0.56788	0.806	T	0.64980	-0.6279	10	0.34782	T	0.22	-0.9052	7.4129	0.27027	0.0:0.8807:0.0:0.1193	.	54	Q5SR56	HIAL1_HUMAN	I	54	ENSP00000364493:L54I	ENSP00000364493:L54I	L	+	1	0	HIATL1	96217312	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.601000	0.24119	2.131000	0.65755	0.305000	0.20034	CTT	.		0.373	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		A	97177491	C	A	97177491	3	1	28	1	0	0	0	0	1	0	0	0	7125	681	24	3	166	3	HIATL1	9	97177491	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	2174305	97177491	44035940	59	4530											
MED27	9442	hgsc.bcm.edu	37	9	134889833	134889833	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr9:134889833C>T	ENST00000292035.5	-	3	433	c.370G>A	c.(370-372)Gca>Aca	p.A124T	MED27_ENST00000357028.2_Missense_Mutation_p.A124T	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	124					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)		AGGCCAGATGCTAGTCCTGCA	0.423																																					p.A124T	Colon(41;784 923 6932 42329 52483)	.											.	.	.	0			c.G370A						.						96	79	85					9																	134889833		2203	4300	6503	SO:0001583	missense	9442	exon3			CAGATGCTAGTCC	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.370G>A	9.37:g.134889833C>T	ENSP00000292035:p.Ala124Thr	56	0		38	3	NM_001253881	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751528	0.69533	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	L	0.46819	1.47	0.80722	D	1	P;D;D	0.76494	0.873;0.996;0.999	B;D;D	0.73708	0.412;0.981;0.931	T	0.76263	-0.3023	9	0.72032	D	0.01	-6.6411	18.4048	0.90532	0.0:1.0:0.0:0.0	.	124;124;124	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	T	124;86;124	.	ENSP00000292035:A124T	A	-	1	0	MED27	133879654	1.000000	0.71417	0.568000	0.28447	0.757000	0.42996	6.951000	0.75983	2.655000	0.90218	0.462000	0.41574	GCA	.		0.423	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		T	134889833	C	T	134889833	3	4	28	1	0	0	0	0	1	0	0	0	9483	797	28	3	589	3	MED27	9	134889833	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	37712342	134889833	6323598	60	4531											
GJD4	219770	bcgsc.ca	37	10	35897268	35897268	+	Missense_Mutation	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:35897268G>A	ENST00000321660.1	+	2	985	c.827G>A	c.(826-828)gGc>gAc	p.G276D	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	276					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAGGGGGCTGGCAGCCCCAGG	0.697																																					p.G276D													.	GJD4	38	0			c.G827A						.						10	11	11					10																	35897268		2119	4146	6265	SO:0001583	missense	219770	exon2			GGGCTGGCAGCCC	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.827G>A	10.37:g.35897268G>A	ENSP00000315070:p.Gly276Asp	50	0		55	4	NM_153368	Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	3.932	-0.015906	0.07681	.	.	ENSG00000177291	ENST00000321660	D	0.97575	-4.44	4.87	1.01	0.19927	.	9.050420	0.00496	N	0.000147	D	0.90762	0.7100	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.85372	0.1114	10	0.11485	T	0.65	.	5.0171	0.14343	0.4823:0.4035:0.1142:0.0	.	276	Q96KN9	CXD4_HUMAN	D	276	ENSP00000315070:G276D	ENSP00000315070:G276D	G	+	2	0	GJD4	35937274	0.001000	0.12720	0.032000	0.17829	0.022000	0.10575	-0.739000	0.04866	-0.022000	0.13986	0.467000	0.42956	GGC	.		0.697	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		A	35897268	G	A	35897268	3	1	28	1	0	0	0	0	1	0	0	0	6445	1203	42	3	833	3	GJD4	10	35897268	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		35897268	99637479	61	4532											
ZNF33B	7582	hgsc.bcm.edu	37	10	43089614	43089614	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:43089614G>T	ENST00000359467.3	-	5	898	c.784C>A	c.(784-786)Ctc>Atc	p.L262I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	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)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGGAACAAGAGGGATGAACTA	0.388																																					p.L262I	Melanoma(137;1247 1767 16772 25727 43810)	.											ZNF33B,NS,carcinoma,0,1	ZNF33B	0	0			c.C784A						.						108	96	100					10																	43089614		2203	4300	6503	SO:0001583	missense	7582	exon5			ACAAGAGGGATGA	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.784C>A	10.37:g.43089614G>T	ENSP00000352444:p.Leu262Ile	46	0		48	2	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813829	0.32053	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.40756	1.02	2.28	1.29	0.21616	.	0.788139	0.10377	N	0.682070	T	0.39172	0.1068	M	0.72894	2.215	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.43278	-0.9401	10	0.87932	D	0	.	4.7524	0.13066	0.2705:0.0:0.7295:0.0	.	262	Q06732	ZN33B_HUMAN	I	262;228	ENSP00000352444:L262I	ENSP00000352444:L262I	L	-	1	0	ZNF33B	42409620	0.000000	0.05858	0.025000	0.17156	0.419000	0.31324	-0.052000	0.11865	0.462000	0.27095	0.416000	0.27883	CTC	.		0.388	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		T	43089614	G	T	43089614	3	4	28	1	0	0	0	0	1	0	0	0	17903	1000	35	3	1556	3	ZNF33B	10	43089614	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	7192346	43089614	92445133	62	4533											
STOX1	219736	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	70645255	70645259	+	Frame_Shift_Del	DEL	ACCCT	ACCCT	-	rs16925882	byFrequency	TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	ACCCT	ACCCT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:70645255_70645259delACCCT	ENST00000298596.6	+	3	1786_1790	c.1703_1707delACCCT	c.(1702-1707)gaccctfs	p.DP568fs	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Frame_Shift_Del_p.DP458fs|STOX1_ENST00000399169.4_Frame_Shift_Del_p.DP568fs|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	568						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P569H(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TACATAAATGACCCTACTGTCAAAC	0.405																																					p.568_569del		.											STOX1,colon,carcinoma,0,1	STOX1	0	1	Substitution - Missense(1)	endometrium(1)	c.1702_1706del						.																																			SO:0001589	frameshift_variant	219736	exon3			TAAATGACCCTAC	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.1703_1707delACCCT	10.37:g.70645255_70645259delACCCT	ENSP00000298596:p.Asp568fs	32	0		44	16	NM_152709	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Frame_Shift_Del	DEL	ENST00000298596.6	37	CCDS41535.1																																																																																			.		0.405	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		-	70645259	ACCCT	-	70645255	7	5	28	1	0	1	0	1	0	0	0	0	15366	275	10	0	1713	0	STOX1	10	70645255	Frame_Shift_Del	DEL	ACCCT	TCGA-ZD-A8I3-01A-11D-A417-09	27555641	70645255	64889492	63	4534											
NPFFR1	64106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	72025934	72025934	+	Missense_Mutation	SNP	A	A	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:72025934A>T	ENST00000277942.6	-	2	220	c.221T>A	c.(220-222)aTg>aAg	p.M74K		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	74					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						GACAGTATGCATGTGCCGGTT	0.552																																					p.M74K		.											.	.	.	0			c.T221A						.						88	86	86					10																	72025934		2158	4282	6440	SO:0001583	missense	64106	exon2			GTATGCATGTGCC	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	17425	protein-coding gene	gene with protein product	"neuropeptide FF 1"	607448	"G protein-coupled receptor 147"	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.221T>A	10.37:g.72025934A>T	ENSP00000277942:p.Met74Lys	45	0		31	10	NM_022146	A2RRF0|Q8NGR0|Q96RN3	Missense_Mutation	SNP	ENST00000277942.6	37	CCDS53539.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688244	0.68271	.	.	ENSG00000148734	ENST00000449957;ENST00000277942	T;T	0.36520	1.25;1.25	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63717	-0.6574	10	0.51188	T	0.08	.	13.6094	0.62068	1.0:0.0:0.0:0.0	.	74	Q9GZQ6	NPFF1_HUMAN	K	72;74	ENSP00000401171:M72K;ENSP00000277942:M74K	ENSP00000277942:M74K	M	-	2	0	NPFFR1	71695940	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	7.442000	0.80503	1.901000	0.55032	0.260000	0.18958	ATG	.		0.552	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		T	72025934	A	T	72025934	3	4	28	1	0	0	0	0	1	0	0	0	10616	217	8	5	1082	5	NPFFR1	10	72025934	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	1380679	72025934	63508813	64	4535											
C10orf27	219793	broad.mit.edu	37	10	72541754	72541754	+	Missense_Mutation	SNP	C	C	T	rs200788611		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:72541754C>T	ENST00000299290.1	-	4	469	c.80G>A	c.(79-81)cGc>cAc	p.R27H	TBATA_ENST00000545575.1_Missense_Mutation_p.R17H|TBATA_ENST00000456372.2_Missense_Mutation_p.R27H	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CCTTGGCTTGCGCCCTGACTT	0.592																																					p.R27H													C10orf27,NS,carcinoma,-1,2	.	.	0			c.G80A						.						73	77	75					10																	72541754		2203	4300	6503	SO:0001583	missense	219793	exon4			GGCTTGCGCCCTG	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.80G>A	10.37:g.72541754C>T	ENSP00000299290:p.Arg27His	29	0		41	4	NM_152710	A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	c	1.001	-0.691041	0.03303	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T	0.42513	0.97	5.16	-10.3	0.00346	.	2.595140	0.00973	N	0.003262	T	0.09113	0.0225	N	0.00347	-1.61	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.003;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.0;0.001;0.0	T	0.35450	-0.9788	10	0.29301	T	0.29	0.8149	2.1381	0.03768	0.1711:0.2167:0.3799:0.2324	.	16;16;27;27;17;27	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;B7Z8I8;Q96M53	.;.;.;.;.;SPATL_HUMAN	H	27;14;27;17	ENSP00000299290:R27H	ENSP00000299290:R27H	R	-	2	0	C10orf27	72211760	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.368000	0.02580	-2.434000	0.00554	-2.674000	0.00144	CGC	.		0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		T	72541754	C	T	72541754	3	4	28	1	0	0	0	0	1	0	0	0	1605	768	27	1	1007	1	C10orf27	10	72541754	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	515820	72541754	62992993	65	4536											
UNC5B	219699	hgsc.bcm.edu	37	10	73051326	73051326	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:73051326C>T	ENST00000335350.6	+	10	1848	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P467S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	478					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						GGACCCCTTACCCAGCCTTAA	0.637																																					p.P478S		.											UNC5B,colon,carcinoma,0,1	UNC5B	0	0			c.C1432T						.						72	73	72					10																	73051326		2203	4300	6503	SO:0001583	missense	219699	exon10			CCCTTACCCAGCC	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.1432C>T	10.37:g.73051326C>T	ENSP00000334329:p.Pro478Ser	69	0		64	3	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111939	0.77210	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.52526	0.75;0.66	4.47	4.47	0.54385	.	0.138317	0.49916	D	0.000130	T	0.62282	0.2415	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.57929	-0.7726	10	0.23891	T	0.37	-27.9657	17.5121	0.87763	0.0:1.0:0.0:0.0	.	467;478	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	S	478;467	ENSP00000334329:P478S;ENSP00000362288:P467S	ENSP00000334329:P478S	P	+	1	0	UNC5B	72721332	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.815000	0.86186	2.190000	0.69967	0.651000	0.88453	CCC	.		0.637	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73051326	C	T	73051326	3	4	28	1	0	0	0	0	1	0	0	0	17041	507	18	3	1470	3	UNC5B	10	73051326	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	509572	73051326	62483421	66	4537											
NT5C2	22978	hgsc.bcm.edu;bcgsc.ca	37	10	104866417	104866417	+	Silent	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:104866417C>A	ENST00000404739.3	-	3	245	c.222G>T	c.(220-222)gtG>gtT	p.V74V	NT5C2_ENST00000423468.2_Silent_p.V45V|NT5C2_ENST00000343289.5_Silent_p.V74V|NT5C2_ENST00000369857.4_Intron			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	74					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTAATCTCTCCACAGTAAGCT	0.388																																					p.V74V		.											.	.	.	0			c.G222T						.						147	148	148					10																	104866417		2203	4300	6503	SO:0001819	synonymous_variant	22978	exon5			TCTCTCCACAGTA	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.222G>T	10.37:g.104866417C>A		44	0		47	4	NM_012229	B7Z382|D3DR91|Q5JUV5	Silent	SNP	ENST00000404739.3	37	CCDS7544.1																																																																																			.		0.388	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		A	104866417	C	A	104866417	2	1	28	1	0	0	0	0	0	0	0	1	10726	581	21	3		3	NT5C2	10	104866417	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	31815091	104866417	30668330	67	4538											
TACC2	10579	hgsc.bcm.edu;bcgsc.ca	37	10	123970434	123970434	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:123970434G>T	ENST00000369005.1	+	9	6834	c.6494G>T	c.(6493-6495)aGt>aTt	p.S2165I	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.S2169I|TACC2_ENST00000513429.1_Missense_Mutation_p.S311I|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.S243I|TACC2_ENST00000453444.2_Missense_Mutation_p.S2169I|TACC2_ENST00000334433.3_Missense_Mutation_p.S2165I|TACC2_ENST00000260733.3_Missense_Mutation_p.S243I|TACC2_ENST00000360561.3_Missense_Mutation_p.S243I|TACC2_ENST00000515603.1_Missense_Mutation_p.S2120I|TACC2_ENST00000358010.1_Missense_Mutation_p.S311I|TACC2_ENST00000368999.1_Missense_Mutation_p.S243I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2165					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)				CTTGTCCCCAGTGGGGAGAAT	0.562																																					p.S2165I		.											.	.	.	0			c.G6494T						.						95	107	103					10																	123970434		2203	4300	6503	SO:0001583	missense	10579	exon9			TCCCCAGTGGGGA	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.6494G>T	10.37:g.123970434G>T	ENSP00000358001:p.Ser2165Ile	69	0		56	4	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	3.241	-0.155393	0.06544	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639	T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	3.91;3.52;3.97;3.96;3.91;3.52;3.97;3.4;3.34;3.34;3.4;2.99;1.51	5.54	1.46	0.22682	.	0.864012	0.09636	N	0.775584	T	0.20981	0.0505	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.16396	0.004;0.017;0.0;0.009;0.017;0.0;0.0;0.002;0.009	B;B;B;B;B;B;B;B;B	0.17098	0.002;0.011;0.001;0.017;0.011;0.001;0.001;0.002;0.017	T	0.31641	-0.9936	10	0.45353	T	0.12	0.7929	2.1468	0.03789	0.1375:0.2617:0.36:0.2408	.	260;2169;243;2120;2169;243;243;311;2165	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	I	2165;311;2169;2120;2165;311;2169;2155;243;243;243;243;260;6	ENSP00000358001:S2165I;ENSP00000425062:S311I;ENSP00000424467:S2169I;ENSP00000427618:S2120I;ENSP00000334280:S2165I;ENSP00000350701:S311I;ENSP00000395048:S2169I;ENSP00000353763:S243I;ENSP00000357995:S243I;ENSP00000422815:S243I;ENSP00000260733:S243I;ENSP00000420967:S260I;ENSP00000426303:S6I	ENSP00000260733:S243I	S	+	2	0	TACC2	123960424	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.871000	0.28023	0.010000	0.14839	0.655000	0.94253	AGT	.		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123970434	G	T	123970434	3	4	28	1	0	0	0	0	1	0	0	0	15549	1029	36	3	6596	3	TACC2	10	123970434	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	19104017	123970434	11564313	68	4539											
TUBGCP2	10844	hgsc.bcm.edu	37	10	135107110	135107110	+	Silent	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr10:135107110C>T	ENST00000252936.3	-	5	819	c.780G>A	c.(778-780)gtG>gtA	p.V260V	TUBGCP2_ENST00000368563.2_Silent_p.V260V|TUBGCP2_ENST00000417178.2_Silent_p.V130V|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000543663.1_Silent_p.V288V|TUBGCP2_ENST00000368562.1_5'Flank			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	260					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)		GGATCCTGTGCACCAGCTCCC	0.687																																					p.V288V		.											TUBGCP2,colon,carcinoma,0,1	TUBGCP2	0	0			c.G864A						.						39	33	35					10																	135107110		2184	4266	6450	SO:0001819	synonymous_variant	10844	exon7			CCTGTGCACCAGC	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.780G>A	10.37:g.135107110C>T		79	0		81	3	NM_001256617	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	CCDS7676.1																																																																																			.		0.687	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			T	135107110	C	T	135107110	2	4	28	1	0	0	0	0	0	0	0	1	16815	697	25	3		3	TUBGCP2	10	135107110	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	11136676	135107110	427637	69	4540											
MUC2	4583	bcgsc.ca	37	11	1092615	1092615	+	Silent	SNP	C	C	T	rs201595190		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:1092615C>T	ENST00000441003.2	+	30	4461	c.4434C>T	c.(4432-4434)agC>agT	p.S1478S	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.S1479S|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4213	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)	ccactcccagccctccaacca	0.637																																					p.S1478S													.	MUC2	614	0			c.C4434T						.						135	246	207					11																	1092615		1480	2775	4255	SO:0001819	synonymous_variant	4583	exon30			TCCCAGCCCTCCA	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.4434C>T	11.37:g.1092615C>T		211	9		250	19	NM_002457	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092615	C	T	1092615	2	4	28	1	0	0	0	0	0	0	0	1	10013	738	26	3		3	MUC2	11	1092615	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		1092615	133913901	70	4541			1	6		3	3	609	C		2.861404e-06
MUC2	4583	bcgsc.ca	37	11	1093061	1093061	+	Missense_Mutation	SNP	C	C	T	rs111210454		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:1093061C>T	ENST00000441003.2	+	30	4907	c.4880C>T	c.(4879-4881)cCa>cTa	p.P1627L	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.P1594L|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)	acacagaccccaaccccaaca	0.632																																					p.P1627L													.	MUC2	614	0			c.C4880T						.						128	165	153					11																	1093061		1874	3606	5480	SO:0001583	missense	4583	exon30			AGACCCCAACCCC	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.4880C>T	11.37:g.1093061C>T	ENSP00000415183:p.Pro1627Leu	225	4		272	18	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	6.096	0.386050	0.11524	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13657	2.57;2.97	1.61	1.61	0.23674	.	13.230700	0.00633	U	0.000492	T	0.09774	0.0240	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.22906	-1.0203	9	0.27785	T	0.31	.	6.7045	0.23242	0.0:1.0:0.0:0.0	.	1627	E7EUV1	.	L	1627;1594	ENSP00000415183:P1627L;ENSP00000351956:P1594L	ENSP00000351956:P1594L	P	+	2	0	MUC2	1083061	0.000000	0.05858	0.009000	0.14445	0.048000	0.14542	0.279000	0.18771	0.910000	0.36722	0.121000	0.15741	CCA	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093061	C	T	1093061	3	4	28	1	0	0	0	0	1	0	0	0	10013	594	21	3	4998	3	MUC2	11	1093061	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	446	1093061	133913455	71	4542			1	6		3	3	609	C		2.861404e-06
MUC2	4583	bcgsc.ca	37	11	1093223	1093223	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:1093223C>A	ENST00000441003.2	+	30	5069	c.5042C>A	c.(5041-5043)aCc>aAc	p.T1681N	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1648N|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)	atcaccaccaccactacGGTG	0.627																																					p.T1681N													.	MUC2	614	0			c.C5042A						.						81	146	123					11																	1093223		1810	3320	5130	SO:0001583	missense	4583	exon30			CCACCACCACTAC	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.5042C>A	11.37:g.1093223C>A	ENSP00000415183:p.Thr1681Asn	150	1		244	9	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	6.380	0.438260	0.12104	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.58;2.71	1.75	1.75	0.24633	.	0.237231	0.18200	U	0.148541	T	0.04907	0.0132	.	.	.	0.09310	N	1	P	0.41978	0.767	B	0.26310	0.068	T	0.38950	-0.9637	9	0.18710	T	0.47	.	6.899	0.24273	0.0:1.0:0.0:0.0	.	1681	E7EUV1	.	N	1681;1648	ENSP00000415183:T1681N;ENSP00000351956:T1648N	ENSP00000351956:T1648N	T	+	2	0	MUC2	1083223	0.028000	0.19301	0.001000	0.08648	0.007000	0.05969	2.708000	0.47152	0.981000	0.38548	0.184000	0.17185	ACC	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093223	C	A	1093223	3	1	28	1	0	0	0	0	1	0	0	0	10013	507	18	3	5160	3	MUC2	11	1093223	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	162	1093223	133913293	72	4543			1	6		3	3	609	C		2.861404e-06
OR51I1	390063	broad.mit.edu	37	11	5462013	5462013	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:5462013C>A	ENST00000380211.1	-	1	731	c.732G>T	c.(730-732)atG>atT	p.M244I	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	244					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)		AGATGTGTGACATGCAGGTGT	0.493																																					p.M244I													.	OR51I1	66	0			c.G732T						.						108	93	98					11																	5462013		2201	4297	6498	SO:0001583	missense	390063	exon1			GTGTGACATGCAG	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.732G>T	11.37:g.5462013C>A	ENSP00000369559:p.Met244Ile	14	0		14	6	NM_001005288	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	8.429	0.848178	0.17034	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.35605	1.3	5.47	0.897	0.19258	GPCR, rhodopsin-like superfamily (1);	0.279428	0.31601	N	0.007371	T	0.07954	0.0199	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21965	-1.0230	10	0.32370	T	0.25	.	1.4574	0.02388	0.218:0.3689:0.2472:0.1659	.	244	Q9H343	O51I1_HUMAN	I	241;244	ENSP00000369559:M244I	ENSP00000439622:M241I	M	-	3	0	OR51I1	5418589	0.000000	0.05858	0.998000	0.56505	0.909000	0.53808	-0.387000	0.07361	0.644000	0.30656	0.551000	0.68910	ATG	.		0.493	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		A	5462013	C	A	5462013	3	1	28	1	0	0	0	0	1	0	0	0	11139	478	17	3	216	3	OR51I1	11	5462013	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	4368790	5462013	129544503	73	4544											
OR8K3	219473	ucsc.edu	37	11	56086147	56086147	+	Missense_Mutation	SNP	G	G	A	rs960193	byFrequency	TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:56086147G>A	ENST00000312711.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	122			L -> R (in dbSNP:rs960193).			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(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCTACGACCTCTATGTGGCC	0.393																																					p.L122H													OR8K3,NS,carcinoma,+1,1	OR8K3	92	0			c.T365A	GRCh37	CM035855	OR8K3	M	rs960193	.						118	110	113					11																	56086147		2201	4296	6497	SO:0001583	missense	219473	exon1			ACGACCTCTATGT	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.365G>A	11.37:g.56086147G>A	ENSP00000323555:p.Arg122His	36	0		32	16	NM_001005202	Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	CCDS31527.1																																																																																			G|0.721;T|0.279		0.393	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		A	56086147	G	A	56086147	3	1	28	1	0	0	0	0	1	0	0	0	11283	1551	54	5	367	5	OR8K3	11	56086147	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	50624134	56086147	78920369	74	4545											
AHNAK	79026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62292529	62292529	+	Missense_Mutation	SNP	C	C	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:62292529C>G	ENST00000378024.4	-	5	9634	c.9360G>C	c.(9358-9360)atG>atC	p.M3120I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3120					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)				CAGGAACTTTCATGTCACCTT	0.468																																					p.M3120I		.											.	.	.	0			c.G9360C						.						218	235	229					11																	62292529		2202	4299	6501	SO:0001583	missense	79026	exon5			AACTTTCATGTCA	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.9360G>C	11.37:g.62292529C>G	ENSP00000367263:p.Met3120Ile	88	0		85	31	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.565059	0.00134	.	.	ENSG00000124942	ENST00000378024	T	0.00653	5.96	3.79	-7.58	0.01313	.	.	.	.	.	T	0.00271	0.0008	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43702	-0.9375	9	0.06891	T	0.86	0.0853	3.8772	0.09062	0.421:0.1957:0.308:0.0753	.	3120	Q09666	AHNK_HUMAN	I	3120	ENSP00000367263:M3120I	ENSP00000367263:M3120I	M	-	3	0	AHNAK	62049105	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	-2.171000	0.01267	-4.077000	0.00076	-0.676000	0.03789	ATG	.		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62292529	C	G	62292529	3	3	28	1	0	0	0	0	1	0	0	0	414	826	29	5	8432	5	AHNAK	11	62292529	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	6206382	62292529	72713987	75	4546											
MAML2	84441	hgsc.bcm.edu	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					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.Q647Q(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)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q647Q		.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,caecum,carcinoma,0,2	MAML2	0	1	Substitution - coding silent(1)	endometrium(1)	c.G1941A						.	C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGTTGT	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.1941G>A	11.37:g.95825254C>T		34	0		44	2	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825254	C	T	95825254	2	4	28	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825254	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	33532725	95825254	39181262	76	4547											
DDI1	414301	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	103908641	103908641	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:103908641G>T	ENST00000302259.3	+	1	1334	c.1091G>T	c.(1090-1092)gGa>gTa	p.G364V	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)	364							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)		CTTCCTGAGGGAGAGTTGCCC	0.458																																					p.G364V		.											.	.	.	0			c.G1091T						.						74	73	73					11																	103908641		2202	4299	6501	SO:0001583	missense	414301	exon1			CTGAGGGAGAGTT		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.1091G>T	11.37:g.103908641G>T	ENSP00000302805:p.Gly364Val	29	0		33	4	NM_001001711	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145075	0.37825	.	.	ENSG00000170967	ENST00000302259	T	0.23348	1.91	4.97	4.04	0.47022	.	0.132511	0.49305	D	0.000146	T	0.41650	0.1168	M	0.79805	2.47	0.58432	D	0.999999	D	0.59767	0.986	P	0.50791	0.65	T	0.51426	-0.8707	10	0.72032	D	0.01	-29.3307	13.2951	0.60292	0.0:0.1602:0.8398:0.0	.	364	Q8WTU0	DDI1_HUMAN	V	364	ENSP00000302805:G364V	ENSP00000302805:G364V	G	+	2	0	DDI1	103413851	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	6.477000	0.73591	1.439000	0.47511	0.655000	0.94253	GGA	.		0.458	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		T	103908641	G	T	103908641	3	4	28	1	0	0	0	0	1	0	0	0	4337	1174	41	3	1093	3	DDI1	11	103908641	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	8083387	103908641	31097875	77	4548											
PAFAH1B2	5049	ucsc.edu	37	11	117023206	117023206	+	Missense_Mutation	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr11:117023206G>A	ENST00000527958.1	+	2	202	c.43G>A	c.(43-45)Gca>Aca	p.A15T	PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.A15T|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.A15T|PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.A15T|PAFAH1B2_ENST00000526888.1_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	15					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TCCGCATGCAGCAGAAGATAT	0.413			T	IGH@	MLCLS																																p.A15T				Dom	yes		11	11q23	5049	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"		L	.	PAFAH1B2	19	0			c.G43A						.						133	118	123					11																	117023206		2201	4296	6497	SO:0001583	missense	5049	exon2			CATGCAGCAGAAG	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"PAF-AH1b alpha 2 subunit"	602508	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.43G>A	11.37:g.117023206G>A	ENSP00000435289:p.Ala15Thr	18	0		30	4	NM_001184747	A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	ENST00000527958.1	37	CCDS8380.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618971	0.66787	.	.	ENSG00000168092	ENST00000527958;ENST00000419197;ENST00000529887;ENST00000530272	T;T;T	0.43294	0.95;1.0;1.0	5.57	5.57	0.84162	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.050656	0.85682	D	0.000000	T	0.36220	0.0959	L	0.36672	1.1	0.47819	D	0.999522	P;B;B	0.49961	0.93;0.283;0.175	B;B;B	0.40864	0.342;0.04;0.04	T	0.07328	-1.0778	10	0.22706	T	0.39	-10.7398	19.1523	0.93493	0.0:0.0:1.0:0.0	.	15;15;15	E9PLP3;A8DPS6;P68402	.;.;PA1B2_HUMAN	T	15	ENSP00000435289:A15T;ENSP00000388742:A15T;ENSP00000431365:A15T	ENSP00000388742:A15T	A	+	1	0	PAFAH1B2	116528416	0.995000	0.38212	0.996000	0.52242	0.986000	0.74619	4.420000	0.59841	2.620000	0.88729	0.655000	0.94253	GCA	.		0.413	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		A	117023206	G	A	117023206	3	1	28	1	0	0	0	0	1	0	0	0	11424	971	34	3	45	3	PAFAH1B2	11	117023206	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	13114565	117023206	17983310	78	4549											
OR6C4	341418	hgsc.bcm.edu	37	12	55945614	55945614	+	Missense_Mutation	SNP	G	G	A	rs375998098	byFrequency	TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr12:55945614G>A	ENST00000394256.2	+	1	632	c.604G>A	c.(604-606)Gtt>Att	p.V202I	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	202						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						CCTCTTGGCCGTTGTGACTCT	0.483													G|||	4	0.000798722	0	0	5008	,	,		21643	0		0	False		,,,				2504	0.0041				p.V202I		.											OR6C4,colon,carcinoma,0,1	OR6C4	0	0			c.G604A						.						161	136	144					12																	55945614		2203	4300	6503	SO:0001583	missense	341418	exon1			TTGGCCGTTGTGA	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.604G>A	12.37:g.55945614G>A	ENSP00000377799:p.Val202Ile	32	0		24	2	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	2.858	-0.236702	0.05944	.	.	ENSG00000179626	ENST00000394256	T	0.37584	1.19	4.98	0.942	0.19525	GPCR, rhodopsin-like superfamily (1);	0.903729	0.09142	N	0.842780	T	0.20333	0.0489	N	0.17564	0.495	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.25710	-1.0124	10	0.41790	T	0.15	.	3.6982	0.08372	0.3561:0.0:0.4794:0.1645	.	202	Q8NGE1	OR6C4_HUMAN	I	202	ENSP00000377799:V202I	ENSP00000377799:V202I	V	+	1	0	OR6C4	54231881	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.655000	0.05348	0.066000	0.16515	0.655000	0.94253	GTT	.		0.483	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			A	55945614	G	A	55945614	3	1	28	1	0	0	0	0	1	0	0	0	11232	1145	40	1	606	1	OR6C4	12	55945614	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		55945614	77906281	79	4550											
ESYT1	23344	bcgsc.ca	37	12	56524397	56524397	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr12:56524397G>T	ENST00000394048.5	+	2	686	c.422G>T	c.(421-423)tGg>tTg	p.W141L	RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.W141L|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.W141L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	141	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				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						AAGGCTGAATGGCTCAATAAG	0.502																																					p.W141L													.	ESYT1	84	0			c.G422T						.						193	172	179					12																	56524397		2203	4300	6503	SO:0001583	missense	23344	exon2			CTGAATGGCTCAA	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.422G>T	12.37:g.56524397G>T	ENSP00000377612:p.Trp141Leu	54	0		83	4	NM_015292	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375366	0.61735	.	.	ENSG00000139641	ENST00000551790;ENST00000394048;ENST00000267113;ENST00000541590	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	4.57	4.57	0.56435	.	0.256814	0.42172	D	0.000752	D	0.95828	0.8642	M	0.78223	2.4	0.58432	D	0.999996	P;P	0.51449	0.945;0.941	P;B	0.49999	0.628;0.444	D	0.95933	0.8940	10	0.87932	D	0	-3.3131	11.7462	0.51821	0.0:0.0:0.8235:0.1765	.	141;141	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	L	20;141;141;141	ENSP00000447756:W20L;ENSP00000377612:W141L;ENSP00000267113:W141L;ENSP00000445952:W141L	ENSP00000267113:W141L	W	+	2	0	ESYT1	54810664	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.873000	0.75541	2.277000	0.76020	0.563000	0.77884	TGG	.		0.502	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		T	56524397	G	T	56524397	3	4	28	1	0	0	0	0	1	0	0	0	5280	1357	47	3	428	3	ESYT1	12	56524397	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	578783	56524397	77327498	80	4551											
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	57569279	57569279	+	Missense_Mutation	SNP	A	A	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr12:57569279A>G	ENST00000243077.3	+	23	4050	c.3584A>G	c.(3583-3585)aAc>aGc	p.N1195S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1195	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	TGCAGCCACAACTGCTCAGTG	0.617											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N1195S		.											.	.	.	0			c.A3584G						.						63	54	57					12																	57569279		2203	4300	6503	SO:0001583	missense	4035	exon23			GCCACAACTGCTC	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.3584A>G	12.37:g.57569279A>G	ENSP00000243077:p.Asn1195Ser	15	0	1024	29	5	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.422342	0.43020	.	.	ENSG00000123384	ENST00000243077	D	0.96300	-3.97	4.87	4.87	0.63330	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	N	0.25426	0.745	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.92620	0.6107	10	0.08381	T	0.77	.	13.5953	0.61987	1.0:0.0:0.0:0.0	.	1195	Q07954	LRP1_HUMAN	S	1195	ENSP00000243077:N1195S	ENSP00000243077:N1195S	N	+	2	0	LRP1	55855546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.060000	0.93907	2.052000	0.61016	0.533000	0.62120	AAC	.		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		G	57569279	A	G	57569279	3	3	28	1	0	0	0	0	1	0	0	0	8986	43	2	4	3674	4	LRP1	12	57569279	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	1044882	57569279	76282616	81	4552											
ATP2B1	490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	90028837	90028837	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr12:90028837C>T	ENST00000428670.3	-	4	1054	c.598G>A	c.(598-600)Ggt>Agt	p.G200S	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G200S|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G200S|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G200S			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	200					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|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)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATGACCTGACCACCCCTGATG	0.398																																					p.G200S		.											.	.	.	0			c.G598A						.						137	118	124					12																	90028837		2203	4299	6502	SO:0001583	missense	490	exon3			CCTGACCACCCCT	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.598G>A	12.37:g.90028837C>T	ENSP00000392043:p.Gly200Ser	31	0		37	10	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503406	0.96371	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.91635	0.999;0.871	D	0.94833	0.7998	9	.	.	.	-20.692	20.1615	0.98135	0.0:1.0:0.0:0.0	.	200;200	P20020-3;P20020-2	.;.	S	200	ENSP00000261173:G200S;ENSP00000343599:G200S;ENSP00000352054:G200S;ENSP00000392043:G200S	.	G	-	1	0	ATP2B1	88552968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.060000	0.57477	2.835000	0.97688	0.650000	0.86243	GGT	.		0.398	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		T	90028837	C	T	90028837	3	4	28	1	0	0	0	0	1	0	0	0	1140	594	21	3	3294	3	ATP2B1	12	90028837	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	32459558	90028837	43823058	82	4553											
SLC17A8	246213	bcgsc.ca	37	12	100811849	100811849	+	Missense_Mutation	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr12:100811849G>A	ENST00000323346.5	+	11	1653	c.1340G>A	c.(1339-1341)aGc>aAc	p.S447N	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S397N|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	447					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CGCTATGCCAGCATTCTCATG	0.468																																					p.S447N													.	SLC17A8	89	0			c.G1340A						.						178	163	168					12																	100811849		2203	4300	6503	SO:0001583	missense	246213	exon11			ATGCCAGCATTCT	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1340G>A	12.37:g.100811849G>A	ENSP00000316909:p.Ser447Asn	46	0		64	4	NM_139319	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294776	0.95546	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.55234	0.53;0.53	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	D	0.85397	0.1129	10	0.87932	D	0	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	447;397	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	N	447;397	ENSP00000316909:S447N;ENSP00000376715:S397N	ENSP00000316909:S447N	S	+	2	0	SLC17A8	99335980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.773000	0.95371	0.655000	0.94253	AGC	.		0.468	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		A	100811849	G	A	100811849	3	1	28	1	0	0	0	0	1	0	0	0	14468	971	34	3	1382	3	SLC17A8	12	100811849	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	10783012	100811849	33040046	83	4554											
CIT	11113	ucsc.edu	37	12	120172046	120172046	+	Silent	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr12:120172046G>A	ENST00000261833.7	-	25	3199	c.3147C>T	c.(3145-3147)gtC>gtT	p.V1049V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.V1091V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1049					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)		CATCACCCAGGACGCTCCTCC	0.547																																					p.V1091V													.	CIT	535	0			c.C3273T						.						125	104	111					12																	120172046		2203	4300	6503	SO:0001819	synonymous_variant	11113	exon26			ACCCAGGACGCTC	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.3147C>T	12.37:g.120172046G>A		24	1		23	5	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	3.252	-0.153050	0.06585	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.35	3.27	0.37495	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50775	-0.8788	4	.	.	.	.	6.1573	0.20344	0.3467:0.0:0.6533:0.0	.	.	.	.	F	677	.	.	S	-	2	0	CIT	118656429	1.000000	0.71417	0.998000	0.56505	0.314000	0.28054	1.328000	0.33758	1.265000	0.44215	-0.373000	0.07131	TCC	.		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		A	120172046	G	A	120172046	2	1	28	1	0	0	0	0	0	0	0	1	3445	1161	41	3		3	CIT	12	120172046	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	19360197	120172046	13679849	84	4555											
C1QTNF9	338872	hgsc.bcm.edu;broad.mit.edu	37	13	24895265	24895265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr13:24895265C>T	ENST00000382071.2	+	4	446	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.Q121*|C1QTNF9-AS1_ENST00000449656.1_RNA|AL359736.1_ENST00000422229.2_Splice_Site_p.*101*			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	121	Collagen-like 2.					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)		GACTGGGCCTCAGGGGCAGAA	0.622																																					p.Q121X		.											.	.	.	0			c.C361T						.						21	12	15					13																	24895265		2023	3554	5577	SO:0001587	stop_gained	338872	exon4			GGGCCTCAGGGGC	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.361C>T	13.37:g.24895265C>T	ENSP00000371503:p.Gln121*	37	0		28	13	NM_178540	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Nonsense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	11.01	1.512220	0.27036	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	.	.	.	4.1	4.1	0.47936	.	0.196102	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.947	0.64091	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	.	Q	+	1	0	C1QTNF9	23793265	0.985000	0.35326	0.518000	0.27811	0.038000	0.13279	2.923000	0.48868	2.250000	0.74265	0.536000	0.68110	CAG	.		0.622	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		T	24895265	C	T	24895265	4	4	28	1	0	0	0	0	0	1	0	0	1977	827	29	3	371	3	C1QTNF9	13	24895265	Nonsense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		24895265	90274613	85	4556											
DCLK1	9201	hgsc.bcm.edu	37	13	36686146	36686146	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr13:36686146C>T	ENST00000360631.3	-	3	794	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	DCLK1_ENST00000255448.4_Missense_Mutation_p.V195M|DCLK1_ENST00000379892.4_Missense_Mutation_p.V195M			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	195	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)	p.V195M(2)		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)		CGTGGCTTCACGCCACTTCTG	0.527																																					p.V195M		.											DCLK1_ENST00000255448,NS,carcinoma,0,2	DCLK1_ENST00000255448	0	2	Substitution - Missense(2)	endometrium(2)	c.G583A						.						172	154	160					13																	36686146		2203	4300	6503	SO:0001583	missense	9201	exon3			GCTTCACGCCACT	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.583G>A	13.37:g.36686146C>T	ENSP00000353846:p.Val195Met	30	0		30	2	NM_004734	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.200854	0.79015	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.93426	-3.22;-3.22;-3.22	5.55	5.55	0.83447	.	0.058710	0.64402	D	0.000002	D	0.94374	0.8191	M	0.70275	2.135	0.80722	D	1	D	0.53745	0.962	P	0.47673	0.554	D	0.94624	0.7816	10	0.66056	D	0.02	.	19.8703	0.96847	0.0:1.0:0.0:0.0	.	195	O15075-2	.	M	195	ENSP00000255448:V195M;ENSP00000353846:V195M;ENSP00000369222:V195M	ENSP00000255448:V195M	V	-	1	0	DCLK1	35584146	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	4.724000	0.61972	2.770000	0.95276	0.650000	0.86243	GTG	.		0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		T	36686146	C	T	36686146	3	4	28	1	0	0	0	0	1	0	0	0	4300	536	19	1	1670	1	DCLK1	13	36686146	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	11790881	36686146	78483732	86	4557											
OLFM4	10562	hgsc.bcm.edu;bcgsc.ca	37	13	53624252	53624252	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr13:53624252G>T	ENST00000219022.2	+	5	957	c.879G>T	c.(877-879)ttG>ttT	p.L293F		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	293	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)		TGGCGCCATTGAATACAGATG	0.448																																					p.L293F		.											.	.	.	0			c.G879T						.						112	100	104					13																	53624252		2203	4300	6503	SO:0001583	missense	10562	exon5			GCCATTGAATACA	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.879G>T	13.37:g.53624252G>T	ENSP00000219022:p.Leu293Phe	87	0		82	4	NM_006418	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308227	0.40895	.	.	ENSG00000102837	ENST00000219022	D	0.89343	-2.5	5.92	4.18	0.49190	Olfactomedin-like (3);	0.168812	0.40385	N	0.001105	D	0.93009	0.7775	M	0.68593	2.085	0.38737	D	0.953796	D	0.76494	0.999	D	0.77557	0.99	D	0.93370	0.6734	10	0.56958	D	0.05	.	13.2097	0.59817	0.1309:0.0:0.8691:0.0	.	293	Q6UX06	OLFM4_HUMAN	F	293	ENSP00000219022:L293F	ENSP00000219022:L293F	L	+	3	2	OLFM4	52522253	0.883000	0.30277	0.515000	0.27774	0.112000	0.19704	1.864000	0.39469	0.822000	0.34565	0.650000	0.86243	TTG	.		0.448	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		T	53624252	G	T	53624252	3	4	28	1	0	0	0	0	1	0	0	0	10894	1281	45	3	897	3	OLFM4	13	53624252	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	16938106	53624252	61545626	87	4558											
PARP2	10038	hgsc.bcm.edu	37	14	20820419	20820419	+	Silent	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr14:20820419G>T	ENST00000250416.5	+	7	579	c.552G>T	c.(550-552)acG>acT	p.T184T	PARP2_ENST00000429687.3_Silent_p.T171T|PARP2_ENST00000527915.1_Silent_p.T184T	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	184					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)	p.T135T(1)|p.T184T(1)		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)		TTGACAAAACGAAAAACAATT	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.T184T		.											PARP2_ENST00000250416,rectum,carcinoma,0,2	PARP2_ENST00000250416	0	2	Substitution - coding silent(2)	large_intestine(2)	c.G552T						.						104	94	97					14																	20820419		1829	4087	5916	SO:0001819	synonymous_variant	10038	exon7			CAAAACGAAAAAC	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.552G>T	14.37:g.20820419G>T		51	0		53	3	NM_005484	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	ENST00000250416.5	37	CCDS41910.1																																																																																			.		0.368	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			T	20820419	G	T	20820419	2	4	28	1	0	0	0	0	0	0	0	1	11500	1045	37	2		2	PARP2	14	20820419	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		20820419	86529121	88	4559											
SPRED1	161742	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	38643598	38643607	+	Frame_Shift_Del	DEL	AGACCCTATT	AGACCCTATT	-			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	AGACCCTATT	AGACCCTATT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr15:38643598_38643607delAGACCCTATT	ENST00000299084.4	+	7	1928_1937	c.1068_1077delAGACCCTATT	c.(1066-1077)ccagaccctattfs	p.PDPI356fs		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	356	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)		AGGATGCTCCAGACCCTATTAAAAGATGCA	0.414									Legius syndrome																												p.356_359del	Melanoma(196;2146 2959 7698 16532)	.											.	.	.	0			c.1067_1076del						.																																			SO:0001589	frameshift_variant	161742	exon7	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	TGCTCCAGACCCT	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.1068_1077delAGACCCTATT	15.37:g.38643598_38643607delAGACCCTATT	ENSP00000299084:p.Pro356fs	61	0		41	10	NM_152594	B2RPJ8|Q05D53|Q8N256	Frame_Shift_Del	DEL	ENST00000299084.4	37	CCDS32193.1																																																																																			.		0.414	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			-	38643607	AGACCCTATT	-	38643598	7	5	28	1	0	1	0	1	0	0	0	0	15139	175	7	0	1094	0	SPRED1	15	38643598	Frame_Shift_Del	DEL	AGACCCTATT	TCGA-ZD-A8I3-01A-11D-A417-09		38643598	63887794	89	4560			2	7		2	2	16	N	AGACCCTATT_A	5.911306e-05
SPRED1	161742	bcgsc.ca	37	15	38643613	38643613	+	Missense_Mutation	SNP	A	A	C			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr15:38643613A>C	ENST00000299084.4	+	7	1943	c.1083A>C	c.(1081-1083)agA>agC	p.R361S		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	361	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)		CTATTAAAAGATGCATATATC	0.423									Legius syndrome																												p.R361S	Melanoma(196;2146 2959 7698 16532)												.	SPRED1	51	0			c.A1083C						.						175	167	170					15																	38643613		2200	4297	6497	SO:0001583	missense	161742	exon7	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	TAAAAGATGCATA	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.1083A>C	15.37:g.38643613A>C	ENSP00000299084:p.Arg361Ser	55	0		41	13	NM_152594	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184281	0.38609	.	.	ENSG00000166068	ENST00000299084	T	0.61859	0.07	6.02	4.83	0.62350	.	0.044760	0.85682	D	0.000000	T	0.40862	0.1134	N	0.11560	0.145	0.47862	D	0.999539	D	0.53312	0.959	P	0.52343	0.696	T	0.39981	-0.9587	10	0.06891	T	0.86	-0.221	7.553	0.27808	0.7867:0.1432:0.0702:0.0	.	361	Q7Z699	SPRE1_HUMAN	S	361	ENSP00000299084:R361S	ENSP00000299084:R361S	R	+	3	2	SPRED1	36430905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.143000	0.58051	2.319000	0.78375	0.462000	0.41574	AGA	.		0.423	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			C	38643613	A	C	38643613	3	2	28	1	0	0	0	0	1	0	0	0	15139	330	12	4	1109	4	SPRED1	15	38643613	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	15	38643613	63887779	90	4561			2	7		2	2	16	N	AGACCCTATT_A	5.911306e-05
SCAPER	49855	hgsc.bcm.edu	37	15	77046217	77046217	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr15:77046217G>T	ENST00000563290.1	-	15	1893	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	SCAPER_ENST00000538941.2_Missense_Mutation_p.H354N|SCAPER_ENST00000324767.7_Missense_Mutation_p.H600N			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	600	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.H600Y(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AACTCAGCATGAAGTAATTTT	0.378																																					p.H600N		.											SCAPER_ENST00000538941,NS,carcinoma,0,2	SCAPER_ENST00000538941	0	1	Substitution - Missense(1)	lung(1)	c.C1798A						.						231	219	223					15																	77046217		1873	4092	5965	SO:0001583	missense	49855	exon14			CAGCATGAAGTAA	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1798C>A	15.37:g.77046217G>T	ENSP00000454973:p.His600Asn	32	0		38	2	NM_020843	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724526	0.89298	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.23348	1.92;1.91	5.77	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	N	0.14661	0.345	0.49389	D	0.999786	P;P	0.51653	0.947;0.947	P;P	0.56042	0.79;0.61	T	0.15206	-1.0445	10	0.51188	T	0.08	.	16.7438	0.85466	0.0:0.1294:0.8706:0.0	.	621;354	Q9BY12-2;F5H7X8	.;.	N	600;354;622	ENSP00000326924:H600N;ENSP00000442190:H354N	ENSP00000303560:H622N	H	-	1	0	SCAPER	74833272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.585000	0.98223	1.411000	0.46957	0.655000	0.94253	CAT	.		0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		T	77046217	G	T	77046217	3	4	28	1	0	0	0	0	1	0	0	0	13923	1290	45	3	2476	3	SCAPER	15	77046217	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	38402604	77046217	25485175	91	4562											
ACAN	176	hgsc.bcm.edu	37	15	89400503	89400503	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr15:89400503G>T	ENST00000561243.1	+	11	4687	c.4687G>T	c.(4687-4689)Ggg>Tgg	p.G1563W	ACAN_ENST00000559004.1_Missense_Mutation_p.G1563W|ACAN_ENST00000439576.2_Missense_Mutation_p.G1563W|ACAN_ENST00000352105.7_Missense_Mutation_p.G1563W			P16112	PGCA_HUMAN	aggrecan	1597	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)			TTCTGAAGTAGGGACTGACCT	0.512																																					p.G1563W		.											AGC1,right_upper_lobe,carcinoma,0,2	AGC1	0	0			c.G4687T						.						51	53	52					15																	89400503		1848	4097	5945	SO:0001583	missense	176	exon12			GAAGTAGGGACTG	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.4687G>T	15.37:g.89400503G>T	ENSP00000453342:p.Gly1563Trp	47	0		40	2	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593317	0.46214	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95949	-3.86;-3.86	4.47	3.52	0.40303	.	0.805385	0.10139	N	0.711121	D	0.96046	0.8712	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.986;0.995	D	0.89795	0.3971	10	0.56958	D	0.05	-5.9602	13.6819	0.62491	0.0:0.1559:0.8441:0.0	.	1563;1563	E7ENV9;E7EX88	.;.	W	1563;1563;1449	ENSP00000387356:G1563W;ENSP00000341615:G1563W	ENSP00000268134:G1449W	G	+	1	0	ACAN	87201507	0.273000	0.24181	0.010000	0.14722	0.547000	0.35210	2.792000	0.47837	1.181000	0.42912	0.655000	0.94253	GGG	.		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89400503	G	T	89400503	3	4	28	1	0	0	0	0	1	0	0	0	117	1000	35	3	4729	3	ACAN	15	89400503	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	12354286	89400503	13130889	92	4563											
ABCC1	4363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	16180684	16180684	+	Missense_Mutation	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr16:16180684G>A	ENST00000399410.3	+	18	2471	c.2296G>A	c.(2296-2298)Gtg>Atg	p.V766M	ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399408.2_Missense_Mutation_p.V766M|ABCC1_ENST00000345148.5_Missense_Mutation_p.V766M|ABCC1_ENST00000346370.5_Intron|ABCC1_ENST00000351154.5_Missense_Mutation_p.V707M	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	766	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)	TCCCCAGGGCGTGAACCTGTC	0.577																																					p.V766M		.											.	.	.	0			c.G2296A						.						59	70	67					16																	16180684		2169	4290	6459	SO:0001583	missense	4363	exon18			CAGGGCGTGAACC	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.2296G>A	16.37:g.16180684G>A	ENSP00000382342:p.Val766Met	29	0		34	8	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174206	0.78452	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000351154;ENST00000345148;ENST00000536381	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.38	5.38	0.77491	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.059638	0.64402	D	0.000003	D	0.96144	0.8743	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.89917	0.998;0.996;1.0;1.0	D;P;D;D	0.91635	0.934;0.707;0.999;0.999	D	0.96523	0.9387	10	0.87932	D	0	-28.6867	18.1249	0.89583	0.0:0.0:1.0:0.0	.	766;707;766;766	P33527-4;P33527-2;P33527;P33527-9	.;.;MRP1_HUMAN;.	M	766;766;707;766;440	ENSP00000382342:V766M;ENSP00000382340:V766M;ENSP00000263017:V707M;ENSP00000263014:V766M	ENSP00000263014:V766M	V	+	1	0	ABCC1	16088185	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	2.786000	0.47790	2.520000	0.84964	0.563000	0.77884	GTG	.		0.577	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16180684	G	A	16180684	3	1	28	1	0	0	0	0	1	0	0	0	49	1145	40	1	2366	1	ABCC1	16	16180684	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		16180684	74174069	93	4564											
ITGAL	3683	hgsc.bcm.edu	37	16	30525161	30525161	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr16:30525161G>T	ENST00000356798.6	+	25	3036	c.2856G>T	c.(2854-2856)atG>atT	p.M952I	ITGAL_ENST00000358164.5_Missense_Mutation_p.M868I|ITGAL_ENST00000433423.2_Missense_Mutation_p.M186I	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	952					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)	TCAAGCACATGTACCAGGTAT	0.502																																					p.M952I	NSCLC(110;1462 1641 3311 33990 49495)	.											.	.	.	0			c.G2856T						.						176	141	153					16																	30525161		2197	4300	6497	SO:0001583	missense	3683	exon25			GCACATGTACCAG		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.2856G>T	16.37:g.30525161G>T	ENSP00000349252:p.Met952Ile	60	0		79	4	NM_002209	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939463	0.18281	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.42513	0.97;0.97;0.97	4.96	0.511	0.16989	Integrin alpha-2 (1);	1.106730	0.06923	N	0.809736	T	0.09949	0.0244	N	0.00246	-1.78	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	0.37934	-0.9684	10	0.21014	T	0.42	.	1.2501	0.01980	0.1784:0.4461:0.1749:0.2006	.	186;868;952	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	I	952;868;186	ENSP00000349252:M952I;ENSP00000350886:M868I;ENSP00000409377:M186I	ENSP00000349252:M952I	M	+	3	0	ITGAL	30432662	0.729000	0.28090	0.812000	0.32479	0.972000	0.66771	0.158000	0.16422	0.290000	0.22444	-0.266000	0.10368	ATG	.		0.502	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			T	30525161	G	T	30525161	3	4	28	1	0	0	0	0	1	0	0	0	7913	1377	48	3	2954	3	ITGAL	16	30525161	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	14344477	30525161	59829592	94	4565											
PHKB	5257	hgsc.bcm.edu;bcgsc.ca	37	16	47675545	47675545	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr16:47675545C>T	ENST00000323584.5	+	16	1574	c.1550C>T	c.(1549-1551)aCt>aTt	p.T517I	PHKB_ENST00000299167.8_Missense_Mutation_p.T517I|PHKB_ENST00000455779.1_Missense_Mutation_p.T510I|PHKB_ENST00000566044.1_Missense_Mutation_p.T510I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	517					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)				GGTATTCAAACTCAAACTCCT	0.368																																					p.T517I		.											.	.	.	0			c.C1550T						.						123	110	115					16																	47675545		2201	4300	6501	SO:0001583	missense	5257	exon16			TTCAAACTCAAAC		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.1550C>T	16.37:g.47675545C>T	ENSP00000313504:p.Thr517Ile	60	0		74	4	NM_000293	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067087	0.76301	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91407	-2.84;-2.84	5.98	5.98	0.97165	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95370	0.8497	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.962	D	0.94419	0.7639	10	0.49607	T	0.09	-23.8326	20.0532	0.97636	0.0:1.0:0.0:0.0	.	517;510	Q93100;Q93100-4	KPBB_HUMAN;.	I	510;510;517	ENSP00000414345:T510I;ENSP00000313504:T517I	ENSP00000299167:T510I	T	+	2	0	PHKB	46233046	1.000000	0.71417	0.999000	0.59377	0.344000	0.29017	7.281000	0.78621	2.835000	0.97688	0.650000	0.86243	ACT	.		0.368	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			T	47675545	C	T	47675545	3	4	28	1	0	0	0	0	1	0	0	0	11884	565	20	3	1671	3	PHKB	16	47675545	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	17150384	47675545	42679208	95	4566											
CHD9	80205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	53191285	53191285	+	Silent	SNP	A	A	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr16:53191285A>G	ENST00000398510.3	+	1	1371	c.1284A>G	c.(1282-1284)tcA>tcG	p.S428S	CHD9_ENST00000564845.1_Silent_p.S428S|CHD9_ENST00000566029.1_Silent_p.S428S|CHD9_ENST00000447540.1_Silent_p.S428S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	428					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)				AAGATAATTCAAGTCACATTT	0.468																																					p.S428S		.											.	.	.	0			c.A1284G						.						87	80	82					16																	53191285		1911	4141	6052	SO:0001819	synonymous_variant	80205	exon2			TAATTCAAGTCAC	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.1284A>G	16.37:g.53191285A>G		19	0		33	8	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																				.		0.468	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53191285	A	G	53191285	2	3	28	1	0	0	0	0	0	0	0	1	3339	117	5	4		4	CHD9	16	53191285	Silent	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	5515740	53191285	37163468	96	4567											
CDH5	1003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	66424338	66424338	+	Missense_Mutation	SNP	C	C	T	rs375751151		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr16:66424338C>T	ENST00000341529.3	+	6	962	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	CDH5_ENST00000563425.2_Missense_Mutation_p.R272C	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	272	Cadherin 3. {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)	TGAAGACACCCGTGTGGGCAC	0.547																																					p.R272C		.											.	.	.	0			c.C814T						.						62	62	62					16																	66424338		2201	4300	6501	SO:0001583	missense	1003	exon6			GACACCCGTGTGG	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.814C>T	16.37:g.66424338C>T	ENSP00000344115:p.Arg272Cys	33	0		49	19	NM_001795	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271381	0.40194	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.54866	0.55	5.97	5.97	0.96955	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.71417	0.3337	M	0.80746	2.51	0.44587	D	0.99755	D	0.71674	0.998	D	0.65443	0.935	T	0.74124	-0.3766	9	0.66056	D	0.02	.	12.8164	0.57667	0.1632:0.8368:0.0:0.0	.	272	P33151	CADH5_HUMAN	C	272	ENSP00000344115:R272C	ENSP00000344115:R272C	R	+	1	0	CDH5	64981839	0.000000	0.05858	0.995000	0.50966	0.066000	0.16364	0.490000	0.22403	2.837000	0.97791	0.655000	0.94253	CGT	.		0.547	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66424338	C	T	66424338	3	4	28	1	0	0	0	0	1	0	0	0	3120	652	23	1	832	1	CDH5	16	66424338	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	13233053	66424338	23930415	97	4568											
WSCD1	23302	hgsc.bcm.edu	37	17	6023684	6023684	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr17:6023684C>A	ENST00000574946.1	+	9	1821	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	WSCD1_ENST00000317744.5_Missense_Mutation_p.D477E|WSCD1_ENST00000539421.1_Missense_Mutation_p.D477E|WSCD1_ENST00000574232.1_Missense_Mutation_p.D477E|WSCD1_ENST00000573634.1_Missense_Mutation_p.D361E			Q658N2	WSCD1_HUMAN	WSC domain containing 1	477						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						ACGTCCTGGACTGGCTCAAGT	0.637																																					p.D477E		.											WSCD1,NS,carcinoma,0,1	WSCD1	0	0			c.C1431A						.						135	128	131					17																	6023684		2203	4300	6503	SO:0001583	missense	23302	exon9			CCTGGACTGGCTC		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.1431C>A	17.37:g.6023684C>A	ENSP00000460825:p.Asp477Glu	34	0		55	3	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335989	0.41398	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.81247	-1.47;-1.47	5.54	4.55	0.56014	Sulfotransferase domain (1);	0.097230	0.64402	D	0.000001	T	0.73729	0.3624	L	0.53561	1.675	0.47009	D	0.999282	B	0.15719	0.014	B	0.23419	0.046	T	0.66316	-0.5954	10	0.25106	T	0.35	-41.3476	7.7102	0.28673	0.0:0.7471:0.1666:0.0863	.	477	Q658N2	WSCD1_HUMAN	E	477	ENSP00000323087:D477E;ENSP00000446032:D477E	ENSP00000323087:D477E	D	+	3	2	WSCD1	5964408	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.108000	0.50337	1.301000	0.44836	0.655000	0.94253	GAC	.		0.637	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		A	6023684	C	A	6023684	3	1	28	1	0	0	0	0	1	0	0	0	17455	564	20	3	1461	3	WSCD1	17	6023684	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		6023684	75171526	98	4569											
SENP3	26168	hgsc.bcm.edu	37	17	7466484	7466484	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr17:7466484C>T	ENST00000429205.2	+	2	140	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	SENP3_ENST00000321337.7_Missense_Mutation_p.R31C|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	31	Pro-rich.			ER -> DG (in Ref. 1; AAG33252). {ECO:0000305}.		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)				CAGGCGGGAGCGTCTTCGTTG	0.632																																					p.R31C		.											SENP3_ENST00000429205,colon,carcinoma,0,1	SENP3_ENST00000429205	0	0			c.C91T						.						13	15	14					17																	7466484		1926	4102	6028	SO:0001583	missense	26168	exon2			CGGGAGCGTCTTC	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.91C>T	17.37:g.7466484C>T	ENSP00000403712:p.Arg31Cys	75	0		64	3	NM_015670	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37		.	.	.	.	.	.	.	.	.	.	C	14.57	2.573775	0.45902	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.35973	1.28;1.28	4.72	3.75	0.43078	.	0.349899	0.24757	N	0.035858	T	0.18841	0.0452	N	0.08118	0	0.38640	D	0.951594	B	0.02656	0.0	B	0.01281	0.0	T	0.06445	-1.0826	10	0.87932	D	0	-2.2113	8.366	0.32387	0.0:0.8942:0.0:0.1058	.	31	Q9H4L4	SENP3_HUMAN	C	31	ENSP00000314029:R31C;ENSP00000403712:R31C	ENSP00000314029:R31C	R	+	1	0	SENP3	7407208	0.996000	0.38824	0.994000	0.49952	0.967000	0.64934	1.948000	0.40303	1.204000	0.43247	0.563000	0.77884	CGT	.		0.632	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		T	7466484	C	T	7466484	3	4	28	1	0	0	0	0	1	0	0	0	14093	768	27	1	93	1	SENP3	17	7466484	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	1442800	7466484	73728726	99	4570											
DNAH2	146754	hgsc.bcm.edu	37	17	7705318	7705318	+	Silent	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr17:7705318C>A	ENST00000572933.1	+	58	10415	c.8955C>A	c.(8953-8955)ctC>ctA	p.L2985L	DNAH2_ENST00000389173.2_Silent_p.L2985L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2985					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.L2985L(1)		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)				ACCTGGAACTCCTGTCTGGAT	0.512																																					p.L2985L		.											DNAH2,NS,carcinoma,0,1	DNAH2	0	1	Substitution - coding silent(1)	lung(1)	c.C8955A						.						95	88	90					17																	7705318		2203	4300	6503	SO:0001819	synonymous_variant	146754	exon57			GGAACTCCTGTCT	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.8955C>A	17.37:g.7705318C>A		26	0		35	2	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																			.		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7705318	C	A	7705318	2	1	28	1	0	0	0	0	0	0	0	1	4616	842	30	3		3	DNAH2	17	7705318	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	238834	7705318	73489892	100	4571											
C1QL1	10882	hgsc.bcm.edu	37	17	43037583	43037583	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr17:43037583G>T	ENST00000253407.3	-	2	772	c.750C>A	c.(748-750)ttC>ttA	p.F250L		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	250	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				TGAAGCCAGAGAACGTGCTGT	0.632																																					p.F250L		.											C1QL1,NS,carcinoma,0,2	C1QL1	0	0			c.C750A						.						305	246	266					17																	43037583		2203	4300	6503	SO:0001583	missense	10882	exon2			GCCAGAGAACGTG	AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.750C>A	17.37:g.43037583G>T	ENSP00000253407:p.Phe250Leu	50	0		41	3	NM_006688		Missense_Mutation	SNP	ENST00000253407.3	37	CCDS11492.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473751	0.84640	.	.	ENSG00000131094	ENST00000253407	D	0.92911	-3.13	4.4	2.42	0.29668	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.96367	0.8815	H	0.94925	3.6	0.51233	D	0.999918	D	0.76494	0.999	D	0.85130	0.997	D	0.94932	0.8083	10	0.87932	D	0	.	7.7959	0.29148	0.2783:0.0:0.7217:0.0	.	250	O75973	C1QRF_HUMAN	L	250	ENSP00000253407:F250L	ENSP00000253407:F250L	F	-	3	2	C1QL1	40393109	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.301000	0.43628	0.498000	0.27948	0.555000	0.69702	TTC	.		0.632	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371119.3	NM_006688		T	43037583	G	T	43037583	3	4	28	1	0	0	0	0	1	0	0	0	1965	933	33	3	30	3	C1QL1	17	43037583	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	35332265	43037583	38157627	101	4572											
C17orf71	55181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	57288383	57288383	+	Missense_Mutation	SNP	A	A	C	rs374585441		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr17:57288383A>C	ENST00000543872.2	+	2	1235	c.971A>C	c.(970-972)aAc>aCc	p.N324T	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.N324T|SMG8_ENST00000578922.1_Missense_Mutation_p.N324T|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	324					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						CAGAGCATCAACTGCCTCTTT	0.507																																					p.N324T		.											.	.	.	0			c.A971C						.						76	67	70					17																	57288383		2203	4300	6503	SO:0001583	missense	55181	exon1			GCATCAACTGCCT	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.971A>C	17.37:g.57288383A>C	ENSP00000438748:p.Asn324Thr	60	0		58	22	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995630	0.54147	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.47177	0.85;0.85	5.88	5.88	0.94601	.	0.080799	0.85682	D	0.000000	T	0.63861	0.2547	L	0.49350	1.555	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.65973	-0.6038	10	0.72032	D	0.01	-18.7555	15.4686	0.75422	1.0:0.0:0.0:0.0	.	324	Q8ND04	SMG8_HUMAN	T	324	ENSP00000300917:N324T;ENSP00000438748:N324T	ENSP00000300917:N324T	N	+	2	0	SMG8	54643165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.957000	0.93082	2.235000	0.73313	0.533000	0.62120	AAC	.		0.507	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		C	57288383	A	C	57288383	3	2	28	1	0	0	0	0	1	0	0	0	1884	43	2	4	973	4	C17orf71	17	57288383	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	14250800	57288383	23906827	102	4573											
LAMA1	284217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	6997830	6997830	+	Missense_Mutation	SNP	C	C	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr18:6997830C>G	ENST00000389658.3	-	33	4810	c.4717G>C	c.(4717-4719)Gat>Cat	p.D1573H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1573	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)				AGAACGGCATCACCAATCTCA	0.408																																					p.D1573H		.											.	.	.	0			c.G4717C						.						214	194	201					18																	6997830		2203	4300	6503	SO:0001583	missense	284217	exon33			CGGCATCACCAAT	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.4717G>C	18.37:g.6997830C>G	ENSP00000374309:p.Asp1573His	51	0		51	22	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	4.600	0.111569	0.08831	.	.	ENSG00000101680	ENST00000389658	T	0.19250	2.16	5.36	4.49	0.54785	Laminin I (1);	0.309682	0.33235	N	0.005128	T	0.19927	0.0479	M	0.62723	1.935	0.09310	N	1	P	0.35575	0.51	B	0.29598	0.104	T	0.14643	-1.0465	10	0.40728	T	0.16	.	10.6366	0.45569	0.0:0.8521:0.0:0.1479	.	1573	P25391	LAMA1_HUMAN	H	1573	ENSP00000374309:D1573H	ENSP00000374309:D1573H	D	-	1	0	LAMA1	6987830	0.000000	0.05858	0.015000	0.15790	0.007000	0.05969	-0.546000	0.06062	1.397000	0.46682	0.655000	0.94253	GAT	.		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	6997830	C	G	6997830	3	3	28	1	0	0	0	0	1	0	0	0	8633	826	29	5	4634	5	LAMA1	18	6997830	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		6997830	71079418	103	4574											
MYO5B	4645	hgsc.bcm.edu	37	18	47405423	47405423	+	Missense_Mutation	SNP	C	C	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr18:47405423C>G	ENST00000285039.7	-	24	3467	c.3168G>C	c.(3166-3168)atG>atC	p.M1056I	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Missense_Mutation_p.M197I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1056					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)		GTTCTTTCTTCATGAGATTTT	0.453																																					p.M1056I		.											.	.	.	0			c.G3168C						.						79	78	78					18																	47405423		1855	4101	5956	SO:0001583	missense	4645	exon24			TTTCTTCATGAGA	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.3168G>C	18.37:g.47405423C>G	ENSP00000285039:p.Met1056Ile	38	0		58	5	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909898	0.17833	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.16324	2.35;2.35	5.28	4.4	0.53042	.	0.179711	0.50627	N	0.000110	T	0.10551	0.0258	N	0.14661	0.345	0.50039	D	0.999842	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09058	-1.0692	10	0.44086	T	0.13	.	10.8003	0.46485	0.1469:0.7115:0.1416:0.0	.	1056;197	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	I	1056;197	ENSP00000285039:M1056I;ENSP00000315531:M197I	ENSP00000285039:M1056I	M	-	3	0	MYO5B	45659421	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	3.368000	0.52357	1.194000	0.43101	0.563000	0.77884	ATG	.		0.453	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			G	47405423	C	G	47405423	3	3	28	1	0	0	0	0	1	0	0	0	10117	826	29	5	2446	5	MYO5B	18	47405423	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	40407593	47405423	30671825	104	4575											
KIAA1468	57614	hgsc.bcm.edu	37	18	59919949	59919949	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr18:59919949C>T	ENST00000398130.2	+	12	2018	c.1786C>T	c.(1786-1788)Cgt>Tgt	p.R596C	KIAA1468_ENST00000256858.6_Missense_Mutation_p.R596C	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	596										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)				TGGACCAACACGTGTAGAAGC	0.373																																					p.R596C		.											KIAA1468,colon,carcinoma,0,1	KIAA1468	0	0			c.C1786T						.						121	104	110					18																	59919949		2203	4300	6503	SO:0001583	missense	57614	exon12			CCAACACGTGTAG	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.1786C>T	18.37:g.59919949C>T	ENSP00000381198:p.Arg596Cys	36	0		41	2	NM_020854		Missense_Mutation	SNP	ENST00000398130.2	37	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932384	0.92389	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.45668	0.89;0.89	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.78314	0.896;0.991;0.991	T	0.66452	-0.5920	9	.	.	.	-12.6458	20.0621	0.97678	0.0:1.0:0.0:0.0	.	596;596;240	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	C	596	ENSP00000381198:R596C;ENSP00000256858:R596C	.	R	+	1	0	KIAA1468	58070929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.830000	0.69324	2.750000	0.94351	0.655000	0.94253	CGT	.		0.373	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		T	59919949	C	T	59919949	3	4	28	1	0	0	0	0	1	0	0	0	8263	536	19	1	1832	1	KIAA1468	18	59919949	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	12514526	59919949	18157299	105	4576											
CDH7	1005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	63489459	63489459	+	Silent	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr18:63489459C>T	ENST00000397968.2	+	5	1194	c.768C>T	c.(766-768)aaC>aaT	p.N256N	CDH7_ENST00000323011.3_Silent_p.N256N|CDH7_ENST00000536984.2_Silent_p.N256N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	256	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)				CTGATGTCAACGATAATCCAC	0.388																																					p.N256N		.											.	.	.	0			c.C768T						.						167	119	135					18																	63489459		2203	4300	6503	SO:0001819	synonymous_variant	1005	exon5			TGTCAACGATAAT	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.768C>T	18.37:g.63489459C>T		26	0		38	10	NM_004361	Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																			.		0.388	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63489459	C	T	63489459	2	4	28	1	0	0	0	0	0	0	0	1	3122	535	19	1		1	CDH7	18	63489459	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	3569510	63489459	14587789	106	4577											
ZNF98	148198	hgsc.bcm.edu	37	19	22574573	22574573	+	Silent	SNP	C	C	T	rs74174065		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr19:22574573C>T	ENST00000357774.5	-	4	1585	c.1464G>A	c.(1462-1464)aaG>aaA	p.K488K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				ATTTGTAGGGCTTCTCTCCAG	0.393																																					p.K488K		.											ZNF98_ENST00000357774,NS,carcinoma,0,2	ZNF98_ENST00000357774	0	0			c.G1464A						.						73	66	68					19																	22574573		2181	4273	6454	SO:0001819	synonymous_variant	148198	exon4			GTAGGGCTTCTCT		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.1464G>A	19.37:g.22574573C>T		38	1		46	4	NM_001098626		Silent	SNP	ENST00000357774.5	37	CCDS46031.1																																																																																			.		0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22574573	C	T	22574573	2	4	28	1	0	0	0	0	0	0	0	1	18251	796	28	3		3	ZNF98	19	22574573	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		22574573	36554410	107	4578											
SHKBP1	92799	hgsc.bcm.edu	37	19	41088331	41088331	+	Missense_Mutation	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr19:41088331G>A	ENST00000291842.5	+	10	968	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	SHKBP1_ENST00000600733.1_Splice_Site	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	307					protein homooligomerization (GO:0051260)			p.G307W(1)		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)			AAGCCACACAGGGCGCATCGG	0.597																																					p.G307R		.											SHKBP1,colon,carcinoma,0,1	SHKBP1	0	1	Substitution - Missense(1)	large_intestine(1)	c.G919A						.						88	84	85					19																	41088331		2203	4300	6503	SO:0001583	missense	92799	exon10			CACACAGGGCGCA	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.919G>A	19.37:g.41088331G>A	ENSP00000291842:p.Gly307Arg	61	0		49	2	NM_138392	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408171	0.83340	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.11277	2.79	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;1.0;1.0;0.999	T	0.34129	-0.9841	10	0.87932	D	0	-25.3929	16.3577	0.83243	0.0:0.0:1.0:0.0	.	185;144;230;144;307	B4DLI0;B4DUW2;B4DUV2;B3KVX8;Q8TBC3	.;.;.;.;SHKB1_HUMAN	R	307;144	ENSP00000291842:G307R	ENSP00000291842:G307R	G	+	1	0	SHKBP1	45780171	1.000000	0.71417	0.697000	0.30258	0.658000	0.38924	9.023000	0.93683	2.405000	0.81733	0.561000	0.74099	GGG	.		0.597	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		A	41088331	G	A	41088331	3	1	28	1	0	0	0	0	1	0	0	0	14329	1000	35	3	957	3	SHKBP1	19	41088331	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	18513758	41088331	18040652	108	4579											
ZNF615	284370	hgsc.bcm.edu	37	19	52497156	52497156	+	Silent	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr19:52497156C>T	ENST00000602063.1	-	6	1522	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	ZNF615_ENST00000391795.3_Silent_p.Q396Q|ZNF615_ENST00000594083.1_Silent_p.Q402Q|ZNF615_ENST00000376716.5_Silent_p.Q391Q|ZNF615_ENST00000598071.1_Silent_p.Q402Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q402H(1)|p.Q391H(1)		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)		TATGAGTTTGCTGATGTGTGA	0.393																																					p.Q402Q		.											ZNF615,NS,carcinoma,0,2	ZNF615	0	2	Substitution - Missense(2)	lung(2)	c.G1206A						.						94	86	89					19																	52497156		2203	4300	6503	SO:0001819	synonymous_variant	284370	exon7			AGTTTGCTGATGT	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.1173G>A	19.37:g.52497156C>T		37	0		47	2	NM_001199324	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	CCDS12846.1																																																																																			.		0.393	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		T	52497156	C	T	52497156	2	4	28	1	0	0	0	0	0	0	0	1	18088	796	28	3		3	ZNF615	19	52497156	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	11408825	52497156	6631827	109	4580											
PTPRA	5786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	2968722	2968722	+	Missense_Mutation	SNP	G	G	A	rs375070304		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr20:2968722G>A	ENST00000216877.6	+	7	945	c.545G>A	c.(544-546)cGc>cAc	p.R182H	PTPRA_ENST00000425918.2_Missense_Mutation_p.R202H|PTPRA_ENST00000399903.2_Missense_Mutation_p.R191H|PTPRA_ENST00000380393.3_Missense_Mutation_p.R191H|PTPRA_ENST00000358719.4_Missense_Mutation_p.R47H|PTPRA_ENST00000356147.3_Missense_Mutation_p.R182H|PTPRA_ENST00000318266.5_Missense_Mutation_p.R182H	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	191					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						AATTCTTTCCGCTTATCCAAC	0.448																																					p.R191H		.											.	.	.	0			c.G572A						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	145	138	140		572,545,545	5.8	1	20		140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PTPRA	NM_002836.3,NM_080840.2,NM_080841.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	191/803,182/794,182/794	2968722	1,13005	2203	4300	6503	SO:0001583	missense	5786	exon12			CTTTCCGCTTATC		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.545G>A	20.37:g.2968722G>A	ENSP00000216877:p.Arg182His	43	0		47	17	NM_002836	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200911	0.94997	0.0	1.16E-4	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T;T	0.53857	3.87;0.6;3.86;3.87;3.82;3.87;3.86;3.86	5.8	5.8	0.92144	.	0.000000	0.85682	U	0.000000	T	0.58566	0.2131	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65773	0.925;0.938;0.938	T	0.53718	-0.8399	10	0.32370	T	0.25	.	14.2385	0.65943	0.0708:0.0:0.9292:0.0	.	202;191;182	B7Z2A4;P18433-3;P18433-4	.;.;.	H	191;182;182;191;47;191;202;182;182	ENSP00000369756:R191H;ENSP00000414089:R182H;ENSP00000216877:R182H;ENSP00000382787:R191H;ENSP00000351559:R47H;ENSP00000393553:R202H;ENSP00000314568:R182H;ENSP00000348468:R182H	ENSP00000216877:R182H	R	+	2	0	PTPRA	2916722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.104000	0.94239	2.735000	0.93741	0.655000	0.94253	CGC	.		0.448	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			A	2968722	G	A	2968722	3	1	28	1	0	0	0	0	1	0	0	0	12840	1087	38	1	590	1	PTPRA	20	2968722	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		2968722	60056798	110	4581											
SSTR4	6754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	23016852	23016852	+	Silent	SNP	C	C	T	rs369953610		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr20:23016852C>T	ENST00000255008.3	+	1	796	c.732C>T	c.(730-732)cgC>cgT	p.R244R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	244					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)					TGGCCCTGCGCGCTGGCTGGC	0.627																																					p.R244R	Esophageal Squamous(15;850 1104 16640)	.											.	.	.	0			c.C732T						.	T		0,4290		0,0,2145	73	84	80		732	-1	0.8	20		80	1,8539		0,1,4269	no	coding-synonymous	SSTR4	NM_001052.2		0,1,6414	TT,TC,CC		0.0117,0.0,0.0078		244/389	23016852	1,12829	2145	4270	6415	SO:0001819	synonymous_variant	6754	exon1			CCTGCGCGCTGGC		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.732C>T	20.37:g.23016852C>T		33	0		19	8	NM_001052	Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	CCDS42856.1																																																																																			.		0.627	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			T	23016852	C	T	23016852	2	4	28	1	0	0	0	0	0	0	0	1	15247	755	27	1		1	SSTR4	20	23016852	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	20048130	23016852	40008668	111	4582											
ZHX3	23051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	39832988	39832988	+	Missense_Mutation	SNP	A	A	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr20:39832988A>G	ENST00000309060.3	-	4	984	c.569T>C	c.(568-570)aTg>aCg	p.M190T	ZHX3_ENST00000558993.1_Missense_Mutation_p.M190T|ZHX3_ENST00000432768.2_Missense_Mutation_p.M190T|ZHX3_ENST00000540170.1_Missense_Mutation_p.M190T|ZHX3_ENST00000560361.1_Missense_Mutation_p.M190T|ZHX3_ENST00000544979.2_Missense_Mutation_p.M190T|ZHX3_ENST00000559234.1_Missense_Mutation_p.M190T|ZHX3_ENST00000557816.1_Missense_Mutation_p.M190T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	190					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	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)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTTGCCTTTCATTATCTTCAT	0.493																																					p.M190T		.											.	.	.	0			c.T569C						.						95	96	96					20																	39832988		2203	4300	6503	SO:0001583	missense	23051	exon3			CCTTTCATTATCT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.569T>C	20.37:g.39832988A>G	ENSP00000312222:p.Met190Thr	19	0		24	10	NM_015035	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073175	0.76415	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768	T;T;T;T;T	0.31247	1.5;2.9;2.9;2.68;1.5	6.07	6.07	0.98685	.	0.089715	0.85682	D	0.000000	T	0.53029	0.1771	M	0.75264	2.295	0.46499	D	0.999078	P;P;D;D	0.69078	0.949;0.949;0.997;0.974	P;P;D;P	0.64410	0.76;0.786;0.925;0.736	T	0.56998	-0.7886	10	0.72032	D	0.01	-29.1888	12.4717	0.55792	0.8606:0.1393:0.0:0.0	.	190;190;190;190	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	T	190	ENSP00000312222:M190T;ENSP00000362360:M190T;ENSP00000442290:M190T;ENSP00000443783:M190T;ENSP00000415498:M190T	ENSP00000312222:M190T	M	-	2	0	ZHX3	39266402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.765000	0.68834	2.326000	0.78906	0.533000	0.62120	ATG	.		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		G	39832988	A	G	39832988	3	3	28	1	0	0	0	0	1	0	0	0	17725	217	8	4	2309	4	ZHX3	20	39832988	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09	16816136	39832988	23192532	112	4583											
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020608	46020608	+	Silent	SNP	C	C	T	rs374137541	byFrequency	TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr21:46020608C>T	ENST00000380102.2	+	1	112	c.87C>T	c.(85-87)tcC>tcT	p.S29S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	29						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						ACTCTTGCTCCGACTCCTGGC	0.677													c|||	12	0.00239617	0.0068	0	5008	,	,		17271	0.003		0	False		,,,				2504	0				p.S29S		.											KRTAP10-7_ENST00000380102,NS,carcinoma,0,2	KRTAP10-7_ENST00000380102	0	0			c.C87T						.	C	,	22,3984		0,22,1981	55	55	55		,87	-4.9	0	21	dbSNP_134	55	0,8298		0,0,4149	no	intron,coding-synonymous	TSPEAR,KRTAP10-7	NM_144991.2,NM_198689.2	,	0,22,6130	TT,TC,CC		0.0,0.5492,0.1788	,	,29/376	46020608	22,12282	2003	4149	6152	SO:0001819	synonymous_variant	386675	exon1			TTGCTCCGACTCC	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.87C>T	21.37:g.46020608C>T		98	2		108	6	NM_198689	Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37																																																																																				.		0.677	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		T	46020608	C	T	46020608	2	4	28	1	0	0	0	0	0	0	0	1	8541	639	23	1		1	KRTAP10-7	21	46020608	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09		46020608	2109287	113	4584											
CABIN1	23523	hgsc.bcm.edu	37	22	24573580	24573580	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chr22:24573580G>T	ENST00000398319.2	+	36	6699	c.6314G>T	c.(6313-6315)aGc>aTc	p.S2105I	CABIN1_ENST00000405822.2_Missense_Mutation_p.S2026I|CABIN1_ENST00000263119.5_Missense_Mutation_p.S2105I|CABIN1_ENST00000337989.7_Missense_Mutation_p.S475I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2105					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						AAGGCCCCCAGCAGTGGGAGT	0.677																																					p.S2105I		.											.	.	.	0			c.G6314T						.						40	42	41					22																	24573580		2203	4300	6503	SO:0001583	missense	23523	exon36			CCCCCAGCAGTGG	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.6314G>T	22.37:g.24573580G>T	ENSP00000381364:p.Ser2105Ile	52	0		49	4	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089375	0.55968	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.21361	2.01;2.01;2.01;2.07	5.05	5.05	0.67936	.	0.655120	0.14463	N	0.318069	T	0.14442	0.0349	N	0.19112	0.55	0.34223	D	0.675635	B;B	0.28713	0.178;0.22	B;B	0.28139	0.086;0.08	T	0.12734	-1.0536	10	0.59425	D	0.04	.	9.2059	0.37289	0.0:0.1456:0.6831:0.1712	.	2026;2105	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	2105;2026;2105;475;474	ENSP00000263119:S2105I;ENSP00000384694:S2026I;ENSP00000381364:S2105I;ENSP00000336991:S475I	ENSP00000263119:S2105I	S	+	2	0	CABIN1	22903580	0.937000	0.31787	0.997000	0.53966	0.510000	0.34073	3.040000	0.49799	2.549000	0.85964	0.650000	0.86243	AGC	.		0.677	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24573580	G	T	24573580	3	4	28	1	0	0	0	0	1	0	0	0	2535	971	34	3	6452	3	CABIN1	22	24573580	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09		24573580	26730986	114	4585											
PNPLA4	8228	broad.mit.edu	37	X	7868821	7868821	+	Missense_Mutation	SNP	A	A	G			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:7868821A>G	ENST00000381042.4	-	7	838	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L136P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L223P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	223					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353																																					p.L223P													.	PNPLA4	24	0			c.T668C						.						57	52	54					X																	7868821		2203	4299	6502	SO:0001583	missense	8228	exon7			GGAAAAAGGGCTT	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.668T>C	X.37:g.7868821A>G	ENSP00000370430:p.Leu223Pro	313	1		309	4	NM_004650	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341460	0.41498	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.81078	-1.45;-1.45;-1.45	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.193685	0.33127	N	0.005243	D	0.89866	0.6839	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90635	0.4570	10	0.87932	D	0	-22.634	9.3053	0.37872	1.0:0.0:0.0:0.0	.	223	P41247	PLPL4_HUMAN	P	223;223;136	ENSP00000370430:L223P;ENSP00000415245:L223P;ENSP00000443157:L136P	ENSP00000370430:L223P	L	-	2	0	PNPLA4	7828821	1.000000	0.71417	0.139000	0.22197	0.388000	0.30384	5.486000	0.66856	1.452000	0.47756	0.481000	0.45027	CTT	.		0.353	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		G	7868821	A	G	7868821	3	3	28	1	0	0	0	0	1	0	0	0	12206	72	3	4	97	4	PNPLA4	23	7868821	Missense_Mutation	SNP	A	TCGA-ZD-A8I3-01A-11D-A417-09		7868821	147401739	115	4586											
MOSPD2	158747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	14936834	14936834	+	Missense_Mutation	SNP	C	C	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:14936834C>A	ENST00000380492.3	+	14	1437	c.1349C>A	c.(1348-1350)cCa>cAa	p.P450Q	MOSPD2_ENST00000482354.1_Missense_Mutation_p.P450Q|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	450						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGCAGTAAACCAAACACTCTT	0.269																																					p.P450Q		.											.	.	.	0			c.C1349A						.						83	73	76					X																	14936834		2202	4298	6500	SO:0001583	missense	158747	exon14			GTAAACCAAACAC	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1349C>A	X.37:g.14936834C>A	ENSP00000369860:p.Pro450Gln	222	0		183	36	NM_152581	Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730496	0.48939	.	.	ENSG00000130150	ENST00000380492	T	0.64260	-0.09	5.86	5.86	0.93980	PapD-like (1);	0.099026	0.64402	D	0.000001	T	0.65144	0.2663	M	0.69823	2.125	0.58432	D	0.999999	P	0.43519	0.809	B	0.39465	0.3	T	0.69862	-0.5030	10	0.56958	D	0.05	.	18.9712	0.92715	0.0:1.0:0.0:0.0	.	450	Q8NHP6	MSPD2_HUMAN	Q	450	ENSP00000369860:P450Q	ENSP00000369860:P450Q	P	+	2	0	MOSPD2	14846755	1.000000	0.71417	0.992000	0.48379	0.907000	0.53573	4.384000	0.59607	2.614000	0.88457	0.594000	0.82650	CCA	.		0.269	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		A	14936834	C	A	14936834	3	1	28	1	0	0	0	0	1	0	0	0	9754	594	21	3	1403	3	MOSPD2	23	14936834	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	7068013	14936834	140333726	116	4587											
PRICKLE3	4007	broad.mit.edu	37	X	49034449	49034449	+	Missense_Mutation	SNP	G	G	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:49034449G>T	ENST00000376317.3	-	7	942	c.848C>A	c.(847-849)gCt>gAt	p.A283D	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A215D|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A202D|PRICKLE3_ENST00000538114.1_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	283	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCCTAGTGAAGCTTCACACTC	0.632																																					p.A283D													.	PRICKLE3	59	0			c.C848A						.						58	50	53					X																	49034449		2202	4299	6501	SO:0001583	missense	4007	exon7			AGTGAAGCTTCAC	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.848C>A	X.37:g.49034449G>T	ENSP00000365494:p.Ala283Asp	36	0		34	3	NM_006150	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.09|12.09	1.834845|1.834845	0.32421|0.32421	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849|ENST00000453382;ENST00000432913	D;D;D|.	0.87334|.	-2.24;-2.24;-2.24|.	4.67|4.67	3.76|3.76	0.43208|0.43208	Zinc finger, LIM-type (5);|.	0.000000|.	0.38005|.	N|.	0.001850|.	T|T	0.42337|0.42337	0.1198|0.1198	N|N	0.21583|0.21583	0.68|0.68	0.43683|0.43683	D|D	0.996125|0.996125	B;B;B;P|.	0.35527|.	0.153;0.392;0.153;0.507|.	B;B;B;B|.	0.39590|.	0.18;0.18;0.18;0.304|.	T|T	0.19811|0.19811	-1.0294|-1.0294	10|5	0.19590|.	T|.	0.45|.	-13.2703|-13.2703	9.4562|9.4562	0.38756|0.38756	0.0:0.352:0.6479:0.0|0.0:0.352:0.6479:0.0	.|.	283;245;202;283|.	B2RBS3;B7Z6S4;B7Z8F2;O43900|.	.;.;.;PRIC3_HUMAN|.	D|R	283;202;215|295;293	ENSP00000365494:A283D;ENSP00000441385:A202D;ENSP00000446051:A215D|.	ENSP00000365494:A283D|.	A|S	-|-	2|3	0|2	PRICKLE3|PRICKLE3	48921393|48921393	0.016000|0.016000	0.18221|0.18221	0.992000|0.992000	0.48379|0.48379	0.873000|0.873000	0.50193|0.50193	1.343000|1.343000	0.33930|0.33930	2.138000|2.138000	0.66242|0.66242	0.416000|0.416000	0.27883|0.27883	GCT|AGC	.		0.632	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		T	49034449	G	T	49034449	3	4	28	1	0	0	0	0	1	0	0	0	12530	971	34	3	1011	3	PRICKLE3	23	49034449	Missense_Mutation	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	34097615	49034449	106236111	117	4588											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)												.	NUDT10	28	8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A						.						52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A		89	1		106	8	NM_153183	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																			.		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51076024	G	A	51076024	2	1	28	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	2041575	51076024	104194536	118	4589											
CDX4	1046	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	72674415	72674415	+	Silent	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:72674415C>T	ENST00000373514.2	+	3	849	c.849C>T	c.(847-849)tcC>tcT	p.S283S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	283					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|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)	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)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TTATAGTCTCCGAATGAAAGA	0.428																																					p.S283S		.											.	.	.	0			c.C849T						.						57	46	50					X																	72674415		2202	4300	6502	SO:0001819	synonymous_variant	1046	exon3			AGTCTCCGAATGA	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.849C>T	X.37:g.72674415C>T		69	0		316	24	NM_005193	A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	CCDS14424.1																																																																																			.		0.428	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		T	72674415	C	T	72674415	2	4	28	1	0	0	0	0	0	0	0	1	3191	639	23	1		1	CDX4	23	72674415	Silent	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	21598391	72674415	82596145	119	4590											
SAGE1	55511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	134986716	134986716	+	Missense_Mutation	SNP	C	C	T			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:134986716C>T	ENST00000370709.3	+	3	301	c.301C>T	c.(301-303)Cca>Tca	p.P101S	SAGE1_ENST00000324447.3_Missense_Mutation_p.P101S|SAGE1_ENST00000537770.1_Missense_Mutation_p.P101S|SAGE1_ENST00000535938.1_Missense_Mutation_p.P101S			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	101						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)					GTCAACTGCTCCACCATGGCC	0.423																																					p.P101S		.											.	.	.	0			c.C301T						.						149	117	128					X																	134986716		2203	4300	6503	SO:0001583	missense	55511	exon4			ACTGCTCCACCAT	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.301C>T	X.37:g.134986716C>T	ENSP00000359743:p.Pro101Ser	50	0		68	14	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274819	0.23307	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.54071	0.63;0.63;0.59;0.63	1.25	0.258	0.15578	.	0.104082	0.39834	U	0.001255	T	0.54255	0.1847	L	0.36672	1.1	0.09310	N	1	B;D	0.89917	0.295;1.0	B;D	0.91635	0.178;0.999	T	0.41627	-0.9498	10	0.54805	T	0.06	.	4.8089	0.13333	0.0:0.6064:0.3936:0.0	.	101;101	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	S	101	ENSP00000323191:P101S;ENSP00000445959:P101S;ENSP00000438276:P101S;ENSP00000359743:P101S	ENSP00000323191:P101S	P	+	1	0	SAGE1	134814382	0.178000	0.23122	0.003000	0.11579	0.054000	0.15201	-0.047000	0.11963	0.014000	0.14944	0.284000	0.19432	CCA	.		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		T	134986716	C	T	134986716	3	4	28	1	0	0	0	0	1	0	0	0	13854	855	30	3	311	3	SAGE1	23	134986716	Missense_Mutation	SNP	C	TCGA-ZD-A8I3-01A-11D-A417-09	62312301	134986716	20283844	120	4591											
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																					p.E192E													.	HMGB3	27	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A						.						50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149	exon5			AGAAGAGGAGGAG	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A		27	0		32	3	NM_005342	O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	CCDS35428.1																																																																																			.		0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		A	150156360	G	A	150156360	2	1	28	1	0	0	0	0	0	0	0	1	7254	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-ZD-A8I3-01A-11D-A417-09	15169644	150156360	5114200	121	4592											
GDI1	2664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	153667150	153667150	+	Missense_Mutation	SNP	T	T	C			TCGA-ZD-A8I3-01A-11D-A417-09	TCGA-ZD-A8I3-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b5635673-eac4-4e25-ba71-0a09611b221f	928e9a57-b250-4873-94b9-50702b7907c8	g.chrX:153667150T>C	ENST00000447750.2	+	3	528	c.193T>C	c.(193-195)Tcg>Ccg	p.S65P		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	65					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)					GCCCCCTGAGTCGATGGGCCG	0.572																																					p.S65P		.											.	.	.	0			c.T193C						.						180	194	189					X																	153667150		2203	4300	6503	SO:0001583	missense	2664	exon3			CCTGAGTCGATGG	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.193T>C	X.37:g.153667150T>C	ENSP00000394071:p.Ser65Pro	47	0		41	7	NM_001493	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355165	0.41700	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.86366	-2.11	4.82	-1.65	0.08291	.	0.497516	0.19865	N	0.104326	T	0.78842	0.4347	L	0.48986	1.54	0.25255	N	0.989641	B;B	0.15719	0.014;0.007	B;B	0.21151	0.031;0.033	T	0.65446	-0.6166	10	0.44086	T	0.13	-12.1872	4.4719	0.11717	0.445:0.0:0.1452:0.4098	.	65;65	B4DH24;P31150	.;GDIA_HUMAN	P	65	ENSP00000394071:S65P	ENSP00000358756:S65P	S	+	1	0	GDI1	153320344	0.998000	0.40836	0.172000	0.22920	0.871000	0.50021	1.047000	0.30367	-0.216000	0.10048	0.486000	0.48141	TCG	.		0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		C	153667150	T	C	153667150	3	2	28	1	0	0	0	0	1	0	0	0	6346	1667	58	4	203	4	GDI1	23	153667150	Missense_Mutation	SNP	T	TCGA-ZD-A8I3-01A-11D-A417-09	3510790	153667150	1603410	122	4593											
NOL9	79707	hgsc.bcm.edu	37	1	6610487	6610487	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:6610487G>T	ENST00000377705.5	-	2	617	c.585C>A	c.(583-585)gcC>gcA	p.A195A		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	195					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)		GCAAATTCCGGGCTTCCCTTT	0.418																																					p.A195A		.											NOL9,NS,carcinoma,0,1	NOL9	0	0			c.C585A						.						124	126	125					1																	6610487		2203	4300	6503	SO:0001819	synonymous_variant	79707	exon2			ATTCCGGGCTTCC	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.585C>A	1.37:g.6610487G>T		101	0		35	2	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	ENST00000377705.5	37	CCDS80.1																																																																																			.		0.418	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		T	6610487	G	T	6610487	2	4	29	1	0	0	0	0	0	0	0	1	10567	1219	43	3		3	NOL9	1	6610487	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		6610487	242640134	1	4594											
UBE4B	10277	bcgsc.ca	37	1	10192481	10192481	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:10192481G>T	ENST00000253251.8	+	14	2418	c.1579G>T	c.(1579-1581)Gct>Tct	p.A527S	UBE4B_ENST00000377157.3_Missense_Mutation_p.A411S|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.A656S					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)		AACCCGTGAGGCTGCTCTCAG	0.373																																					p.A656S													.	UBE4B	233	0			c.G1966T						.						74	75	75					1																	10192481		2203	4300	6503	SO:0001583	missense	10277	exon15			CGTGAGGCTGCTC	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.1579G>T	1.37:g.10192481G>T	ENSP00000253251:p.Ala527Ser	132	0		53	4	NM_001105562		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452801	0.43531	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.43294	0.95;0.95;0.95	5.72	5.72	0.89469	Ubiquitin conjugation factor E4, core (1);	0.172021	0.50627	D	0.000108	T	0.38692	0.1050	L	0.42245	1.32	0.53005	D	0.999964	B;B	0.22909	0.077;0.01	B;B	0.22152	0.038;0.007	T	0.16928	-1.0386	10	0.15952	T	0.53	-18.8049	19.88	0.96892	0.0:0.0:1.0:0.0	.	656;527	O95155;O95155-2	UBE4B_HUMAN;.	S	527;411;656	ENSP00000253251:A527S;ENSP00000366362:A411S;ENSP00000343001:A656S	ENSP00000253251:A527S	A	+	1	0	UBE4B	10115068	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.259000	0.72494	2.703000	0.92315	0.655000	0.94253	GCT	.		0.373	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10192481	G	T	10192481	3	4	29	1	0	0	0	0	1	0	0	0	16932	1203	42	3	2024	3	UBE4B	1	10192481	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	3581994	10192481	239058140	2	4595											
KIF1B	23095	broad.mit.edu	37	1	10331564	10331564	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:10331564G>T	ENST00000377086.1	+	8	927	c.725G>T	c.(724-726)aGt>aTt	p.S242I	KIF1B_ENST00000377093.4_Missense_Mutation_p.S242I|KIF1B_ENST00000263934.6_Missense_Mutation_p.S242I|KIF1B_ENST00000377083.1_Missense_Mutation_p.S242I|KIF1B_ENST00000377081.1_Missense_Mutation_p.S242I			O60333	KIF1B_HUMAN	kinesin family member 1B	242	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		TATCAGGTCAGTAAAATCAGC	0.363																																					p.S242I													.	KIF1B	242	0			c.G725T						.						175	181	179					1																	10331564		2203	4300	6503	SO:0001583	missense	23095	exon8			AGGTCAGTAAAAT	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.725G>T	1.37:g.10331564G>T	ENSP00000366290:p.Ser242Ile	155	0		65	3	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.182836	0.94885	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.82	5.82	0.92795	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	0.046698	0.85682	D	0.000000	D	0.93762	0.8006	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.998;0.996;0.996;1.0;0.999;0.997	D;D;D;D;D;D;D	0.79108	0.991;0.992;0.96;0.977;0.989;0.961;0.986	D	0.95121	0.8246	10	0.87932	D	0	.	20.1661	0.98151	0.0:0.0:1.0:0.0	.	242;242;242;242;242;242;242	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	I	242	ENSP00000263934:S242I;ENSP00000366297:S242I;ENSP00000366290:S242I;ENSP00000366287:S242I;ENSP00000366284:S242I	ENSP00000263934:S242I	S	+	2	0	KIF1B	10254151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.771000	0.98977	2.773000	0.95371	0.585000	0.79938	AGT	.		0.363	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10331564	G	T	10331564	3	4	29	1	0	0	0	0	1	0	0	0	8311	1029	36	3	751	3	KIF1B	1	10331564	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	139083	10331564	238919057	3	4596											
PGD	5226	bcgsc.ca	37	1	10471520	10471520	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:10471520G>T	ENST00000270776.8	+	7	603	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	PGD_ENST00000541529.1_Missense_Mutation_p.G167W|PGD_ENST00000538557.1_Missense_Mutation_p.G176W	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	189					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)	GGTGCACAACGGGATAGAGTA	0.577																																					p.G189W													.	PGD	39	0			c.G565T						.						141	107	118					1																	10471520		2203	4300	6503	SO:0001583	missense	5226	exon7			CACAACGGGATAG	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.565G>T	1.37:g.10471520G>T	ENSP00000270776:p.Gly189Trp	67	0		26	3	NM_002631	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	g	27.4	4.826243	0.90955	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.73897	-0.79;-0.79;-0.79	4.85	4.85	0.62838	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	H	0.98466	4.24	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	0.95261	0.8369	10	0.87932	D	0	-18.5896	18.3696	0.90402	0.0:0.0:1.0:0.0	.	167;189;189	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	W	167;135;189;176	ENSP00000442285:G167W;ENSP00000270776:G189W;ENSP00000437822:G176W	ENSP00000270776:G189W	G	+	1	0	PGD	10394107	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	9.643000	0.98464	2.401000	0.81631	0.574000	0.79327	GGG	.		0.577	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		T	10471520	G	T	10471520	3	4	29	1	0	0	0	0	1	0	0	0	11826	1116	39	2	591	2	PGD	1	10471520	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	139956	10471520	238779101	4	4597											
ST3GAL3	6487	broad.mit.edu	37	1	44303969	44303969	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:44303969G>T	ENST00000361392.4	+	5	465	c.288G>T	c.(286-288)acG>acT	p.T96T	ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000372375.2_Silent_p.T150T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000262915.3_Silent_p.T165T|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000347631.2_Silent_p.T111T|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000372369.1_Silent_p.T96T|ST3GAL3_ENST00000372377.4_Silent_p.T96T|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000545417.1_Silent_p.T111T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000372362.2_Silent_p.T96T	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	96					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)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542																																					p.T165T													ST3GAL3,NS,carcinoma,+1,1	ST3GAL3	56	0			c.G495T						.						184	168	173					1																	44303969		2203	4300	6503	SO:0001819	synonymous_variant	6487	exon6			GATGACGGCCATC	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.288G>T	1.37:g.44303969G>T		55	0		60	3	NM_174963	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																			.		0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		T	44303969	G	T	44303969	2	4	29	1	0	0	0	0	0	0	0	1	15263	1103	39	2		2	ST3GAL3	1	44303969	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	33832449	44303969	204946652	5	4598											
DPH2	1802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	44437356	44437356	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:44437356G>T	ENST00000255108.3	+	4	954	c.782G>T	c.(781-783)gGt>gTt	p.G261V	DPH2_ENST00000412950.2_Missense_Mutation_p.G126V|ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	261					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGGATGAGGGTGCCCGGGCT	0.627																																					p.G261V		.											.	.	.	0			c.G782T						.						51	56	54					1																	44437356		2203	4300	6503	SO:0001583	missense	1802	exon4			ATGAGGGTGCCCG	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.782G>T	1.37:g.44437356G>T	ENSP00000255108:p.Gly261Val	33	0		20	6	NM_001384	A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824530	0.32237	.	.	ENSG00000132768	ENST00000255108;ENST00000412950;ENST00000459879	T;T;T	0.41758	0.99;0.99;0.99	4.61	4.61	0.57282	.	0.965292	0.08666	N	0.911699	T	0.33059	0.0850	N	0.20845	0.615	0.39980	D	0.974906	P;P	0.36354	0.549;0.549	B;B	0.39805	0.31;0.31	T	0.03673	-1.1014	10	0.14252	T	0.57	-0.7144	13.6565	0.62341	0.0:0.2032:0.7968:0.0	.	126;261	B4DNI8;Q9BQC3	.;DPH2_HUMAN	V	261;126;34	ENSP00000255108:G261V;ENSP00000413862:G126V;ENSP00000432162:G34V	ENSP00000255108:G261V	G	+	2	0	DPH2	44209943	0.968000	0.33430	0.227000	0.23927	0.217000	0.24651	2.345000	0.44018	2.381000	0.81170	0.552000	0.68991	GGT	.		0.627	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		T	44437356	G	T	44437356	3	4	29	1	0	0	0	0	1	0	0	0	4734	1261	44	3	796	3	DPH2	1	44437356	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	133387	44437356	204813265	6	4599											
CD1D	912	hgsc.bcm.edu	37	1	158152690	158152690	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:158152690C>T	ENST00000368171.3	+	5	1129	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	210	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCTGGCTGTCCCGTGGCCCCA	0.567																																					p.S210S		.											.	.	.	0			c.C630T						.						76	79	78					1																	158152690		2203	4300	6503	SO:0001819	synonymous_variant	912	exon5			GCTGTCCCGTGGC	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.630C>T	1.37:g.158152690C>T		99	0		89	4	NM_001766	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	CCDS1173.1																																																																																			.		0.567	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		T	158152690	C	T	158152690	2	4	29	1	0	0	0	0	0	0	0	1	2984	610	22	3		3	CD1D	1	158152690	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	113715334	158152690	91097931	7	4600											
DDX59	83479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	200635799	200635799	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:200635799T>C	ENST00000331314.6	-	2	283	c.70A>G	c.(70-72)Ata>Gta	p.I24V	DDX59_ENST00000447706.2_Missense_Mutation_p.I24V|DDX59_ENST00000367348.3_Missense_Mutation_p.I24V|RP11-92G12.3_ENST00000568695.1_lincRNA	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	24						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						GGTTTAATTATCTTAGCCACA	0.388																																					p.I24V		.											.	.	.	0			c.A70G						.						166	164	165					1																	200635799		2203	4300	6503	SO:0001583	missense	83479	exon2			TAATTATCTTAGC	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.70A>G	1.37:g.200635799T>C	ENSP00000330460:p.Ile24Val	26	0		51	25	NM_001031725	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992429	0.35131	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.42513	1.58;1.58;1.95;0.97	5.06	5.06	0.68205	.	0.178459	0.48286	D	0.000198	T	0.25457	0.0619	N	0.08118	0	0.24640	N	0.993578	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22800	-1.0206	10	0.59425	D	0.04	-15.2841	13.4456	0.61138	0.0:0.0:0.0:1.0	.	24;24	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	V	24	ENSP00000394367:I24V;ENSP00000356317:I24V;ENSP00000330460:I24V;ENSP00000391312:I24V	ENSP00000330460:I24V	I	-	1	0	DDX59	198902422	1.000000	0.71417	0.728000	0.30774	0.304000	0.27724	6.852000	0.75430	1.919000	0.55581	0.454000	0.30748	ATA	.		0.388	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		C	200635799	T	C	200635799	3	2	29	1	0	0	0	0	1	0	0	0	4385	1435	50	4	1817	4	DDX59	1	200635799	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	42483109	200635799	48614822	8	4601											
KIAA1383	54627	hgsc.bcm.edu;bcgsc.ca	37	1	232941560	232941560	+	Missense_Mutation	SNP	C	C	A	rs3766498		TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:232941560C>A	ENST00000418460.1	+	1	918	c.791C>A	c.(790-792)cCt>cAt	p.P264H		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	122					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)										CAGCTGCCCCCTGGGCGCCCG	0.731																																					p.P264H		.											.	.	.	0			c.C791A						.						6	8	7					1																	232941560		1844	3995	5839	SO:0001583	missense	54627	exon1			TGCCCCCTGGGCG	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.791C>A	1.37:g.232941560C>A	ENSP00000403208:p.Pro264His	19	0		26	7	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958392	0.74016	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	3.33	0.38152	.	1.030910	0.07794	U	0.955327	T	0.59676	0.2211	M	0.67953	2.075	0.24345	N	0.99494	D	0.76494	0.999	D	0.68483	0.958	T	0.37407	-0.9707	9	0.87932	D	0	-8.5412	6.3897	0.21579	0.1297:0.6632:0.0:0.2071	.	122	Q9P2G4	K1383_HUMAN	H	264	.	ENSP00000403208:P264H	P	+	2	0	KIAA1383	231008183	0.002000	0.14202	0.212000	0.23672	0.966000	0.64601	1.473000	0.35387	0.664000	0.31047	0.555000	0.69702	CCT	.		0.731	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		A	232941560	C	A	232941560	3	1	29	1	0	0	0	0	1	0	0	0	8255	681	24	3	793	3	KIAA1383	1	232941560	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	32305761	232941560	16309061	9	4602											
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	240370270	240370270	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr1:240370270G>T	ENST00000319653.9	+	5	2388	c.2158G>T	c.(2158-2160)Gat>Tat	p.D720Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	720					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)			AGCCTCAGGCGATGTCTGTCT	0.517																																					p.D720Y		.											.	.	.	0			c.G2158T						.						70	68	68					1																	240370270		2203	4300	6503	SO:0001583	missense	56776	exon5			TCAGGCGATGTCT	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.2158G>T	1.37:g.240370270G>T	ENSP00000318884:p.Asp720Tyr	54	0		65	16	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108566	0.20714	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.32272	1.46	5.06	4.15	0.48705	.	0.637295	0.14913	N	0.291104	T	0.40595	0.1123	L	0.47716	1.5	0.48087	D	0.999582	D	0.55385	0.971	P	0.52672	0.706	T	0.31308	-0.9948	10	0.87932	D	0	.	13.4601	0.61223	0.0752:0.0:0.9248:0.0	.	720	Q9NZ56	FMN2_HUMAN	Y	157;720	ENSP00000318884:D720Y	ENSP00000318884:D720Y	D	+	1	0	FMN2	238436893	0.010000	0.17322	0.003000	0.11579	0.001000	0.01503	1.726000	0.38085	1.374000	0.46228	0.655000	0.94253	GAT	.		0.517	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240370270	G	T	240370270	3	4	29	1	0	0	0	0	1	0	0	0	5972	1058	37	2	2176	2	FMN2	1	240370270	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	7428710	240370270	8880351	10	4603											
PXDN	7837	hgsc.bcm.edu	37	2	1658220	1658220	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:1658220G>A	ENST00000252804.4	-	15	1948	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	633					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)	p.A633V(1)		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)		GTCAACAGTCGCAATCGCTTC	0.458																																					p.A633V		.											PXDN,NS,NS,0,1	PXDN	0	1	Substitution - Missense(1)	pancreas(1)	c.C1898T						.						115	114	115					2																	1658220		2023	4178	6201	SO:0001583	missense	7837	exon15			ACAGTCGCAATCG	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.1898C>T	2.37:g.1658220G>A	ENSP00000252804:p.Ala633Val	72	0		37	2	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.30|10.30	1.313235|1.313235	0.23908|0.23908	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.61392|.	0.11|.	5.53|5.53	4.64|4.64	0.57946|0.57946	.|.	0.180309|.	0.51477|.	D|.	0.000100|.	T|.	0.40791|.	0.1131|.	N|N	0.14661|0.14661	0.345|0.345	0.46701|0.46701	D|D	0.999161|0.999161	D;P|.	0.54964|.	0.969;0.516|.	P;B|.	0.48063|.	0.565;0.18|.	T|.	0.24119|.	-1.0169|.	10|.	0.29301|.	T|.	0.29|.	-34.2735|-34.2735	12.5302|12.5302	0.56111|0.56111	0.0:0.127:0.741:0.132|0.0:0.127:0.741:0.132	.|.	633;633|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|X	633|629	ENSP00000252804:A633V|.	ENSP00000252804:A633V|.	A|R	-|-	2|1	0|2	PXDN|PXDN	1637227|1637227	1.000000|1.000000	0.71417|0.71417	0.152000|0.152000	0.22495|0.22495	0.100000|0.100000	0.18952|0.18952	3.625000|3.625000	0.54238|0.54238	1.313000|1.313000	0.45069|0.45069	0.579000|0.579000	0.79373|0.79373	GCG|CGA	.		0.458	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1658220	G	A	1658220	3	1	29	1	0	0	0	0	1	0	0	0	12892	1087	38	1	2577	1	PXDN	2	1658220	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		1658220	241541153	11	4604											
SUPT7L	9913	hgsc.bcm.edu	37	2	27878277	27878277	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:27878277G>A	ENST00000337768.5	-	5	1506	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	SUPT7L_ENST00000405491.1_Missense_Mutation_p.R311C|SUPT7L_ENST00000404798.2_Missense_Mutation_p.R178C|SUPT7L_ENST00000464789.2_Missense_Mutation_p.R311C|SUPT7L_ENST00000406540.1_Missense_Mutation_p.R311C	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	313					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)					GATGGGAAGCGTTCGCTCTGA	0.498																																					p.R313C		.											SUPT7L,NS,carcinoma,0,1	SUPT7L	0	0			c.C937T						.						94	96	95					2																	27878277		1970	4146	6116	SO:0001583	missense	9913	exon5			GGAAGCGTTCGCT	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.937C>T	2.37:g.27878277G>A	ENSP00000336750:p.Arg313Cys	66	0		47	2	NM_014860	B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157571	0.78114	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	6.17	5.27	0.74061	.	0.046437	0.85682	D	0.000000	T	0.48277	0.1491	L	0.27053	0.805	0.80722	D	1	D;D;D	0.63880	0.988;0.993;0.988	P;P;P	0.48795	0.513;0.59;0.513	T	0.50972	-0.8764	9	0.72032	D	0.01	-22.2916	14.595	0.68397	0.0:0.0:0.7375:0.2625	.	178;311;313	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	C	313;311;311;311;178	.	ENSP00000336750:R313C	R	-	1	0	SUPT7L	27731781	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.245000	0.43133	2.941000	0.99782	0.655000	0.94253	CGC	.		0.498	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		A	27878277	G	A	27878277	3	1	29	1	0	0	0	0	1	0	0	0	15448	1145	40	1	315	1	SUPT7L	2	27878277	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	26220057	27878277	215321096	12	4605											
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	32613960	32613960	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:32613960T>C	ENST00000421745.2	+	4	922	c.788T>C	c.(787-789)tTa>tCa	p.L263S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	263					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)					TCTTACCTCTTACCTAGTGCA	0.448																																					p.L263S	Pancreas(94;175 1509 16028 18060 45422)	.											.	.	.	0			c.T788C						.						114	91	98					2																	32613960		2203	4300	6503	SO:0001583	missense	57448	exon4			ACCTCTTACCTAG	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.788T>C	2.37:g.32613960T>C	ENSP00000393596:p.Leu263Ser	164	0		81	27	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781889	0.70222	.	.	ENSG00000115760	ENST00000421745	T	0.77229	-1.08	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000006	D	0.82811	0.5118	L	0.34521	1.04	0.54753	D	0.999986	D	0.71674	0.998	D	0.78314	0.991	D	0.84961	0.0877	10	0.87932	D	0	.	16.0588	0.80822	0.0:0.0:0.0:1.0	.	263	Q9NR09	BIRC6_HUMAN	S	263	ENSP00000393596:L263S	ENSP00000393596:L263S	L	+	2	0	BIRC6	32467464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.192000	0.70111	0.528000	0.53228	TTA	.		0.448	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32613960	T	C	32613960	3	2	29	1	0	0	0	0	1	0	0	0	1440	1764	61	4	802	4	BIRC6	2	32613960	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	4735683	32613960	210585413	13	4606											
ANKRD36	375248	broad.mit.edu;bcgsc.ca	37	2	97911242	97911242	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:97911242G>C	ENST00000461153.2	+	71	5162	c.4918G>C	c.(4918-4920)Gat>Cat	p.D1640H	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1640H|ANKRD36_ENST00000357042.4_5'Flank			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1640										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTCGATGTGATCATGATCA	0.423																																					p.D1640H													.	ANKRD36	170	0			c.G4918C						.						107	70	81					2																	97911242		692	1591	2283	SO:0001583	missense	375248	exon71			CGATGTGATCATG	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.4918G>C	2.37:g.97911242G>C	ENSP00000419530:p.Asp1640His	286	0		247	38	NM_001164315	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	7.605	0.673682	0.14841	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.21734	1.99;1.99	1.4	1.4	0.22301	.	.	.	.	.	T	0.42539	0.1207	M	0.79614	2.46	0.45035	D	0.998052	D;D	0.89917	0.998;1.0	D;D	0.85130	0.965;0.997	T	0.42120	-0.9470	9	0.87932	D	0	.	8.7525	0.34626	0.0:0.0:1.0:0.0	.	1640;464	A6QL64;A6QL64-3	AN36A_HUMAN;.	H	1640;1640;907	ENSP00000419530:D1640H;ENSP00000391950:D1640H	ENSP00000391950:D1640H	D	+	1	0	ANKRD36	97274960	0.996000	0.38824	0.439000	0.26833	0.121000	0.20230	3.856000	0.55964	1.081000	0.41110	0.184000	0.17185	GAT	.		0.423	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			C	97911242	G	C	97911242	3	2	29	1	0	0	0	0	1	0	0	0	665	1290	45	5	5200	5	ANKRD36	2	97911242	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	65297282	97911242	145288131	14	4607											
IL1F10	84639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	113831950	113831950	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:113831950A>G	ENST00000393197.2	+	2	498	c.77A>G	c.(76-78)cAg>cGg	p.Q26R	IL1F10_ENST00000341010.2_Missense_Mutation_p.Q26R|IL1F10_ENST00000337569.3_Intron	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	26						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						AGAGATGGCCAGCTGCTGGTG	0.537																																					p.Q26R		.											.	.	.	0			c.A77G						.						111	99	103					2																	113831950		2203	4300	6503	SO:0001583	missense	84639	exon3			ATGGCCAGCTGCT	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.77A>G	2.37:g.113831950A>G	ENSP00000376893:p.Gln26Arg	40	0		36	10	NM_173161	Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	a	11.52	1.664261	0.29604	.	.	ENSG00000136697	ENST00000341010;ENST00000393197	T;T	0.10005	2.92;2.92	4.61	3.46	0.39613	.	4.095920	0.01165	N	0.006720	T	0.19327	0.0464	M	0.77103	2.36	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31888	-0.9927	10	0.54805	T	0.06	-15.1639	7.2355	0.26067	0.895:0.0:0.105:0.0	.	26	Q8WWZ1	IL1FA_HUMAN	R	26	ENSP00000341794:Q26R;ENSP00000376893:Q26R	ENSP00000341794:Q26R	Q	+	2	0	IL1F10	113548421	0.989000	0.36119	0.999000	0.59377	0.510000	0.34073	1.148000	0.31614	0.873000	0.35799	0.529000	0.55759	CAG	.		0.537	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		G	113831950	A	G	113831950	3	3	29	1	0	0	0	0	1	0	0	0	7679	188	7	4	83	4	IL1F10	2	113831950	Missense_Mutation	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09	15920708	113831950	129367423	15	4608											
BIN1	274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	127821523	127821523	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:127821523C>T	ENST00000316724.5	-	8	1095	c.684G>A	c.(682-684)ccG>ccA	p.P228P	BIN1_ENST00000357970.3_Silent_p.P228P|BIN1_ENST00000346226.3_Silent_p.P197P|BIN1_ENST00000393040.3_Silent_p.P197P|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000393041.3_Silent_p.P197P|BIN1_ENST00000351659.3_Silent_p.P228P|BIN1_ENST00000376113.2_Silent_p.P197P|BIN1_ENST00000352848.3_Silent_p.P197P|BIN1_ENST00000348750.4_Silent_p.P197P|BIN1_ENST00000259238.4_Silent_p.P197P|BIN1_ENST00000409400.1_Silent_p.P197P	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	228	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)		TCCACAGGGACGGCAGCTCCT	0.647																																					p.P228P		.											BIN1_ENST00000259238,NS,carcinoma,0,2	BIN1_ENST00000259238	0	0			c.G684A						.						88	80	83					2																	127821523		2203	4300	6503	SO:0001819	synonymous_variant	274	exon8			CAGGGACGGCAGC	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.684G>A	2.37:g.127821523C>T		99	0		73	18	NM_139345	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																			.		0.647	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		T	127821523	C	T	127821523	2	4	29	1	0	0	0	0	0	0	0	1	1434	523	19	1		1	BIN1	2	127821523	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	13989573	127821523	115377850	16	4609											
MBD5	55777	hgsc.bcm.edu;bcgsc.ca	37	2	149247273	149247273	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:149247273G>T	ENST00000407073.1	+	12	4370	c.3373G>T	c.(3373-3375)Gcc>Tcc	p.A1125S	MBD5_ENST00000404807.1_Missense_Mutation_p.A1358S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1125					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)		TGCCATGAGTGCCTTCACTGC	0.507																																					p.A1125S		.											.	.	.	0			c.G3373T						.						109	106	107					2																	149247273		2203	4300	6503	SO:0001583	missense	55777	exon12			ATGAGTGCCTTCA	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.3373G>T	2.37:g.149247273G>T	ENSP00000386049:p.Ala1125Ser	62	0		61	4	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367770	0.42003	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.20069	2.1;2.1	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000009	T	0.35537	0.0935	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.76494	0.996;0.999	D;D	0.80764	0.99;0.994	T	0.15009	-1.0452	10	0.87932	D	0	-5.0109	19.4137	0.94687	0.0:0.0:1.0:0.0	.	1358;1125	E9PHH0;Q9P267	.;MBD5_HUMAN	S	1125;1358	ENSP00000386049:A1125S;ENSP00000384672:A1358S	ENSP00000384672:A1358S	A	+	1	0	MBD5	148963743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.811000	0.91954	2.826000	0.97356	0.563000	0.77884	GCC	.		0.507	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			T	149247273	G	T	149247273	3	4	29	1	0	0	0	0	1	0	0	0	9385	1319	46	3	3399	3	MBD5	2	149247273	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	21425750	149247273	93952100	17	4610											
GALNT5	11227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	158157491	158157491	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:158157491A>G	ENST00000259056.4	+	7	2904	c.2419A>G	c.(2419-2421)Att>Gtt	p.I807V	GALNT5_ENST00000463418.1_3'UTR|RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	807	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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						AAGGGCTCCCATTGTGAGAGC	0.398																																					p.I807V		.											.	.	.	0			c.A2419G						.						80	78	79					2																	158157491		2203	4300	6503	SO:0001583	missense	11227	exon7			GCTCCCATTGTGA	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.2419A>G	2.37:g.158157491A>G	ENSP00000259056:p.Ile807Val	78	0		64	35	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	8.125	0.781751	0.16120	.	.	ENSG00000136542	ENST00000259056	T	0.69175	-0.38	5.76	-3.51	0.04696	Ricin B-related lectin (1);Ricin B lectin (1);	0.586637	0.16010	N	0.233856	T	0.37598	0.1009	N	0.05124	-0.11	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	10	0.29301	T	0.29	.	9.6646	0.39977	0.1983:0.4814:0.3203:0.0	.	807	Q7Z7M9	GALT5_HUMAN	V	807	ENSP00000259056:I807V	ENSP00000259056:I807V	I	+	1	0	GALNT5	157865737	0.000000	0.05858	0.951000	0.38953	0.984000	0.73092	-0.126000	0.10563	-0.312000	0.08741	0.460000	0.39030	ATT	.		0.398	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		G	158157491	A	G	158157491	3	3	29	1	0	0	0	0	1	0	0	0	6241	217	8	4	2445	4	GALNT5	2	158157491	Missense_Mutation	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09	8910218	158157491	85041882	18	4611											
GAD1	2571	hgsc.bcm.edu	37	2	171702544	171702544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:171702544G>T	ENST00000358196.3	+	10	1523	c.973G>T	c.(973-975)Gag>Tag	p.E325*		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	325					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						AGCTGATTTTGAGGCAAAAAT	0.363																																					p.E325X		.											GAD1,bladder,carcinoma,0,1	GAD1	0	0			c.G973T						.						61	65	64					2																	171702544		2203	4300	6503	SO:0001587	stop_gained	2571	exon10			GATTTTGAGGCAA		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.973G>T	2.37:g.171702544G>T	ENSP00000350928:p.Glu325*	110	0		72	4	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Nonsense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	41	9.143566	0.99080	.	.	ENSG00000128683	ENST00000358196	.	.	.	5.91	5.02	0.67125	.	0.091999	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9597	17.1455	0.86765	0.0:0.1264:0.8735:0.0	.	.	.	.	X	325	.	ENSP00000350928:E325X	E	+	1	0	GAD1	171410790	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.546000	0.82137	1.489000	0.48450	0.655000	0.94253	GAG	.		0.363	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			T	171702544	G	T	171702544	4	4	29	1	0	0	0	0	0	1	0	0	6203	1291	45	3	1048	3	GAD1	2	171702544	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	13545053	171702544	71496829	19	4612											
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	196759763	196759763	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:196759763T>C	ENST00000312428.6	-	30	4933	c.4833A>G	c.(4831-4833)ccA>ccG	p.P1611P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1611	AAA 2. {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						TTCCTCCAAATGGTTCTCCAA	0.323																																					p.P1611P		.											.	.	.	0			c.A4833G						.						95	87	89					2																	196759763		1847	4101	5948	SO:0001819	synonymous_variant	56171	exon30			TCCAAATGGTTCT	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.4833A>G	2.37:g.196759763T>C		157	0		124	10	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																			.		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		C	196759763	T	C	196759763	2	2	29	1	0	0	0	0	0	0	0	1	4620	1451	51	4		4	DNAH7	2	196759763	Silent	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	25057219	196759763	46439610	20	4613											
FZD5	7855	hgsc.bcm.edu	37	2	208632294	208632294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:208632294G>T	ENST00000295417.3	-	2	1723	c.1170C>A	c.(1168-1170)tgC>tgA	p.C390*		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	390					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)		TGCCCACGTAGCAGATGCCGG	0.672																																					p.C390X		.											.	.	.	0			c.C1170A						.						41	42	41					2																	208632294		2203	4299	6502	SO:0001587	stop_gained	7855	exon2			CACGTAGCAGATG	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.1170C>A	2.37:g.208632294G>T	ENSP00000354607:p.Cys390*	47	0		45	4	NM_003468	A8K2X1|B2RCZ1|Q53R22	Nonsense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	G	42	9.560430	0.99205	.	.	ENSG00000163251	ENST00000295417	.	.	.	5.29	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2686	0.66138	0.073:0.0:0.927:0.0	.	.	.	.	X	390	.	ENSP00000354607:C390X	C	-	3	2	FZD5	208340539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.106000	0.57804	1.193000	0.43086	0.555000	0.69702	TGC	.		0.672	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		T	208632294	G	T	208632294	4	4	29	1	0	0	0	0	0	1	0	0	6157	963	34	3	591	3	FZD5	2	208632294	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	11872531	208632294	34567079	21	4614											
KIAA1486	57624	hgsc.bcm.edu	37	2	226378131	226378131	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:226378131G>A	ENST00000272907.6	+	3	679	c.266G>A	c.(265-267)gGc>gAc	p.G89D	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	89					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGTTACGTGGGCAAACATTTC	0.498																																					p.G89D		.											KIAA1486,rectum,carcinoma,0,1	KIAA1486	0	0			c.G266A						.						78	82	80					2																	226378131		2049	4188	6237	SO:0001583	missense	57624	exon3			ACGTGGGCAAACA	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.266G>A	2.37:g.226378131G>A	ENSP00000272907:p.Gly89Asp	40	0		27	2	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567097	0.86439	.	.	ENSG00000144460	ENST00000272907	T	0.31247	1.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	M	0.61703	1.905	0.80722	D	1	P	0.38827	0.649	B	0.38428	0.273	T	0.06180	-1.0841	10	0.34782	T	0.22	-29.9756	12.5326	0.56124	0.0762:0.0:0.9238:0.0	.	89	Q9P242	K1486_HUMAN	D	89	ENSP00000272907:G89D	ENSP00000272907:G89D	G	+	2	0	KIAA1486	226086375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.409000	0.80053	2.532000	0.85374	0.563000	0.77884	GGC	.		0.498	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226378131	G	A	226378131	3	1	29	1	0	0	0	0	1	0	0	0	8264	1203	42	3	272	3	KIAA1486	2	226378131	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	17745837	226378131	16821242	22	4615											
TRPM8	79054	hgsc.bcm.edu	37	2	234869591	234869591	+	Missense_Mutation	SNP	G	G	T	rs200884995		TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr2:234869591G>T	ENST00000324695.4	+	12	1574	c.1534G>T	c.(1534-1536)Gcc>Tcc	p.A512S	TRPM8_ENST00000433712.2_Missense_Mutation_p.A200S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	512					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.A512T(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)	TCTGCAGATCGCCAAGAATTC	0.507																																					p.A512S		.											TRPM8,colon,carcinoma,0,1	TRPM8	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1534T						.						115	98	103					2																	234869591		2203	4300	6503	SO:0001583	missense	79054	exon12			CAGATCGCCAAGA	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.1534G>T	2.37:g.234869591G>T	ENSP00000323926:p.Ala512Ser	90	0		56	3	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565320	0.86439	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.58652	0.32;0.38	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.69269	0.3092	L	0.43152	1.355	0.48511	D	0.999669	D;D	0.71674	0.993;0.998	D;P	0.69479	0.964;0.897	T	0.64550	-0.6381	10	0.33940	T	0.23	-29.8559	18.6269	0.91344	0.0:0.0:1.0:0.0	.	200;512	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	S	512;200	ENSP00000323926:A512S;ENSP00000404423:A200S	ENSP00000323926:A512S	A	+	1	0	TRPM8	234534330	1.000000	0.71417	0.971000	0.41717	0.987000	0.75469	6.673000	0.74482	2.735000	0.93741	0.655000	0.94253	GCC	.		0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		T	234869591	G	T	234869591	3	4	29	1	0	0	0	0	1	0	0	0	16640	1087	38	2	1576	2	TRPM8	2	234869591	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	8491460	234869591	8329782	23	4616											
CNTN6	27255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	1427411	1427411	+	Silent	SNP	C	C	T	rs369348874	byFrequency	TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr3:1427411C>T	ENST00000446702.2	+	20	3261	c.2634C>T	c.(2632-2634)tcC>tcT	p.S878S	CNTN6_ENST00000539053.1_Silent_p.S806S|CNTN6_ENST00000350110.2_Silent_p.S878S			Q9UQ52	CNTN6_HUMAN	contactin 6	878	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ACTTTGCTTCCGTAAGAGCTT	0.443													T|||	2	0.000399361	8e-04	0	5008	,	,		18227	0		0.001	False		,,,				2504	0				p.S878S		.											.	.	.	0			c.C2634T						.	T		5,4401	825.8+/-416.5	0,5,2198	176	177	177		2634	-11.5	0.5	3		177	1,8599	819.1+/-406.8	0,1,4299	no	coding-synonymous	CNTN6	NM_014461.2		0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461		878/1029	1427411	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	27255	exon20			TGCTTCCGTAAGA	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.2634C>T	3.37:g.1427411C>T		132	0		56	6	NM_014461	Q2KHM2	Silent	SNP	ENST00000446702.2	37	CCDS2557.1																																																																																			.		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		T	1427411	C	T	1427411	2	4	29	1	0	0	0	0	0	0	0	1	3652	639	23	1		1	CNTN6	3	1427411	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		1427411	196595019	24	4617											
ITGA9	3680	hgsc.bcm.edu;bcgsc.ca	37	3	37565093	37565093	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr3:37565093G>T	ENST00000264741.5	+	12	1574	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	ITGA9_ENST00000422441.1_Missense_Mutation_p.G440C	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	440					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)		GGATGGAAATGGCTATCCTGG	0.393																																					p.G440C		.											.	.	.	0			c.G1318T						.						120	110	113					3																	37565093		2203	4300	6503	SO:0001583	missense	3680	exon12			GGAAATGGCTATC	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.1318G>T	3.37:g.37565093G>T	ENSP00000264741:p.Gly440Cys	131	0		68	4	NM_002207	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217912	0.79352	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	D;D	0.84442	-1.85;-1.85	5.97	4.17	0.49024	.	0.110157	0.64402	D	0.000008	D	0.93370	0.7886	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.76575	0.981;0.988	D	0.93733	0.7043	10	0.87932	D	0	.	11.9102	0.52735	0.0655:0.1228:0.8117:0.0	.	440;440	Q13797;E9PDS3	ITA9_HUMAN;.	C	440	ENSP00000397258:G440C;ENSP00000264741:G440C	ENSP00000264741:G440C	G	+	1	0	ITGA9	37540097	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	5.775000	0.68915	0.846000	0.35142	0.655000	0.94253	GGC	.		0.393	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		T	37565093	G	T	37565093	3	4	29	1	0	0	0	0	1	0	0	0	7910	1348	47	3	1364	3	ITGA9	3	37565093	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	36137682	37565093	160457337	25	4618											
SCN5A	6331	hgsc.bcm.edu	37	3	38592470	38592470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr3:38592470C>T	ENST00000333535.4	-	28	5542	c.5393G>A	c.(5392-5394)tGg>tAg	p.W1798*	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1797*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.W1798*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1797*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1765*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1744*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1798					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)	AAATTTCTCCCAGATCTCATA	0.527																																					p.W1798X		.											SCN5A_ENST00000413689,right_upper_lobe,carcinoma,0,6	SCN5A_ENST00000413689	0	0			c.G5393A						.						50	57	54					3																	38592470		2192	4297	6489	SO:0001587	stop_gained	6331	exon28			TTCTCCCAGATCT	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.5393G>A	3.37:g.38592470C>T	ENSP00000328968:p.Trp1798*	79	0		49	2	NM_198056	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	43	10.126006	0.99342	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	.	.	.	X	1780;1797;1798;1744;1797;1780;1798;1765;1744;1744	.	ENSP00000328968:W1798X	W	-	2	0	SCN5A	38567474	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.651000	0.83577	2.504000	0.84457	0.563000	0.77884	TGG	.		0.527	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		T	38592470	C	T	38592470	4	4	29	1	0	0	0	0	0	1	0	0	13967	595	21	3	661	3	SCN5A	3	38592470	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	1027377	38592470	159429960	26	4619											
QARS	5859	bcgsc.ca	37	3	49137444	49137444	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr3:49137444A>G	ENST00000306125.6	-	14	1582	c.1245T>C	c.(1243-1245)ccT>ccC	p.P415P	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.P404P			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	415					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)	GATAGGCTACAGGGTCCATCT	0.587																																					p.P415P													.	QARS	55	0			c.T1245C						.						165	151	156					3																	49137444		2203	4300	6503	SO:0001819	synonymous_variant	5859	exon14			GGCTACAGGGTCC	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.1245T>C	3.37:g.49137444A>G		48	0		17	3	NM_005051	B4DWJ2	Silent	SNP	ENST00000306125.6	37	CCDS2788.1																																																																																			.		0.587	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		G	49137444	A	G	49137444	2	3	29	1	0	0	0	0	0	0	0	1	12916	175	7	4		4	QARS	3	49137444	Silent	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09	10544974	49137444	148884986	27	4620											
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52678790	52678790	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr3:52678790T>A	ENST00000296302.7	-	8	830	c.829A>T	c.(829-831)Aaa>Taa	p.K277*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K277*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K277*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K277*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K277*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K277*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K277*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K277*			Q86U86	PB1_HUMAN	polybromo 1	277					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)		aatatttttttaattGAATTT	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.K277X		.		Rec	yes		3	3p21	55193	polybromo 1		E	PBRM1_ENST00000356770,colon,carcinoma,0,3	PBRM1_ENST00000356770	0	0			c.A829T						.						38	39	38					3																	52678790		2201	4299	6500	SO:0001587	stop_gained	55193	exon9			TTTTTTTAATTGA	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.829A>T	3.37:g.52678790T>A	ENSP00000296302:p.Lys277*	252	0		86	49	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	37	6.594177	0.97692	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.663	14.1918	0.65644	0.0:0.0:0.0:1.0	.	.	.	.	X	277;277;277;277;277;277;277;277;277;221	.	ENSP00000296302:K277X	K	-	1	0	PBRM1	52653830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.354000	0.73036	2.167000	0.68274	0.460000	0.39030	AAA	.		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52678790	T	A	52678790	4	1	29	1	0	0	0	0	0	1	0	0	11530	1763	61	5	4163	5	PBRM1	3	52678790	Nonsense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	3541346	52678790	145343640	28	4621											
TRIM42	287015	bcgsc.ca	37	3	140407354	140407354	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr3:140407354C>T	ENST00000286349.3	+	3	2021	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	610	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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						TTGTTATCTACCAGACTCTGG	0.542																																					p.Y610Y													.	TRIM42	143	0			c.C1830T						.						82	82	82					3																	140407354		2203	4300	6503	SO:0001819	synonymous_variant	287015	exon3			TATCTACCAGACT	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.1830C>T	3.37:g.140407354C>T		49	0		32	3	NM_152616	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	CCDS3113.1																																																																																			.		0.542	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140407354	C	T	140407354	2	4	29	1	0	0	0	0	0	0	0	1	16565	518	18	3		3	TRIM42	3	140407354	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	87728564	140407354	57615076	29	4622											
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.E545K	Colon(199;1504 1750 3362 26421 31210 32040)	.		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	PIK3CA_ENST00000263967,NS,carcinoma,0,1131	PIK3CA_ENST00000263967	0	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	c.G1633A						.						61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290	exon10			ATCACTGAGCAGG		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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	221	0		127	40	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	.		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	29	1	0	0	0	0	1	0	0	0	11952	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	38528737	178936091	19086339	30	4623											
OTOP1	133060	hgsc.bcm.edu	37	4	4199570	4199570	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr4:4199570C>T	ENST00000296358.4	-	5	1015	c.991G>A	c.(991-993)Gta>Ata	p.V331I		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	331					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)		p.V331I(1)		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)		ATCAGGTATACCACCACCACA	0.572																																					p.V331I		.											OTOP1,trunk,malignant_melanoma,0,1	OTOP1	0	1	Substitution - Missense(1)	skin(1)	c.G991A						.						49	47	48					4																	4199570		2203	4300	6503	SO:0001583	missense	133060	exon5			GGTATACCACCAC	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.991G>A	4.37:g.4199570C>T	ENSP00000296358:p.Val331Ile	54	2		33	2	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	7.519	0.656369	0.14580	.	.	ENSG00000163982	ENST00000296358	T	0.21361	2.01	4.8	1.97	0.26223	.	0.342268	0.29537	N	0.011880	T	0.14399	0.0348	L	0.35487	1.065	0.52099	D	0.999941	P	0.39551	0.678	B	0.40702	0.338	T	0.09773	-1.0659	10	0.19590	T	0.45	.	7.313	0.26485	0.0:0.704:0.1403:0.1557	.	331	Q7RTM1	OTOP1_HUMAN	I	331	ENSP00000296358:V331I	ENSP00000296358:V331I	V	-	1	0	OTOP1	4250471	0.827000	0.29292	0.080000	0.20451	0.014000	0.08584	1.617000	0.36943	0.511000	0.28236	0.404000	0.27445	GTA	.		0.572	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4199570	C	T	4199570	3	4	29	1	0	0	0	0	1	0	0	0	11344	507	18	3	855	3	OTOP1	4	4199570	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		4199570	186954706	31	4624											
KIT	3815	hgsc.bcm.edu	37	4	55597561	55597561	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr4:55597561G>A	ENST00000288135.5	+	15	2306	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N		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	737	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.D737N(1)		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)	AACCAAGGCCGACAAAAGGAG	0.403		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																												p.D737N		.	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,NS,carcinoma,0,2	KIT	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2209A						.						119	112	114					4																	55597561		2203	4300	6503	SO:0001583	missense	3815	exon15	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	AAGGCCGACAAAA	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.2209G>A	4.37:g.55597561G>A	ENSP00000288135:p.Asp737Asn	105	1		42	2	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732125	0.69189	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.78595	-1.19;-1.19	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.182364	0.38111	N	0.001817	T	0.81531	0.4842	L	0.37561	1.115	0.58432	D	0.999997	P;D	0.56521	0.928;0.976	P;P	0.57679	0.448;0.825	T	0.80634	-0.1295	10	0.44086	T	0.13	.	19.8043	0.96521	0.0:0.0:1.0:0.0	.	733;737	P10721-2;P10721	.;KIT_HUMAN	N	737;733	ENSP00000288135:D737N;ENSP00000390987:D733N	ENSP00000288135:D737N	D	+	1	0	KIT	55292318	1.000000	0.71417	0.827000	0.32855	0.030000	0.12068	7.090000	0.76916	2.683000	0.91414	0.655000	0.94253	GAC	.		0.403	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55597561	G	A	55597561	3	1	29	1	0	0	0	0	1	0	0	0	8356	1058	37	1	2267	1	KIT	4	55597561	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	51397991	55597561	135556715	32	4625											
CDH9	1007	hgsc.bcm.edu	37	5	26885928	26885928	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr5:26885928G>T	ENST00000231021.4	-	11	1849	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	559	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)			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						TGCTCATTTTGTTGCGACTGT	0.383																																					p.N559K	Melanoma(8;187 585 15745 40864 52829)	.											CDH9,NS,carcinoma,-2,1	CDH9	-2	0			c.C1677A						.						67	64	65					5																	26885928		2203	4300	6503	SO:0001583	missense	1007	exon11			CATTTTGTTGCGA	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.1677C>A	5.37:g.26885928G>T	ENSP00000231021:p.Asn559Lys	111	0		66	3	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205944	0.39003	.	.	ENSG00000113100	ENST00000231021	T	0.50277	0.75	5.79	3.76	0.43208	Cadherin (4);Cadherin-like (1);	0.552842	0.20688	N	0.087511	T	0.17109	0.0411	N	0.01874	-0.695	0.30805	N	0.739436	B;B	0.11235	0.004;0.001	B;B	0.23275	0.045;0.027	T	0.18085	-1.0348	9	.	.	.	.	3.7311	0.08493	0.1963:0.2371:0.5666:0.0	.	152;559	B4DFP0;Q9ULB4	.;CADH9_HUMAN	K	559	ENSP00000231021:N559K	.	N	-	3	2	CDH9	26921685	0.013000	0.17824	1.000000	0.80357	0.995000	0.86356	0.743000	0.26231	2.740000	0.93945	0.563000	0.77884	AAC	.		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26885928	G	T	26885928	3	4	29	1	0	0	0	0	1	0	0	0	3124	1368	48	3	700	3	CDH9	5	26885928	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		26885928	154029332	33	4626											
PDZD2	23037	hgsc.bcm.edu	37	5	32077650	32077650	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr5:32077650C>T	ENST00000438447.1	+	19	4008	c.3620C>T	c.(3619-3621)gCc>gTc	p.A1207V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1207V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1207					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						CATCTGGATGCCAGCCACCTC	0.493																																					p.A1207V		.											PDZD2,NS,carcinoma,0,1	PDZD2	0	0			c.C3620T						.						107	103	104					5																	32077650		2203	4300	6503	SO:0001583	missense	23037	exon18			TGGATGCCAGCCA	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.3620C>T	5.37:g.32077650C>T	ENSP00000402033:p.Ala1207Val	56	0		32	2	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784284	0.31593	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06371	3.31;3.31	4.98	3.19	0.36642	.	0.972277	0.08394	N	0.952434	T	0.06690	0.0171	L	0.44542	1.39	0.09310	N	1	B;B	0.20368	0.044;0.01	B;B	0.15484	0.013;0.012	T	0.47275	-0.9130	10	0.14656	T	0.56	.	8.6779	0.34189	0.0:0.7626:0.1522:0.0852	.	1033;1207	B4E3P2;O15018	.;PDZD2_HUMAN	V	1207;1012;1207	ENSP00000402033:A1207V;ENSP00000282493:A1207V	ENSP00000282493:A1207V	A	+	2	0	PDZD2	32113407	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.061000	0.30542	0.509000	0.28195	-1.147000	0.01851	GCC	.		0.493	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32077650	C	T	32077650	3	4	29	1	0	0	0	0	1	0	0	0	11740	739	26	3	3690	3	PDZD2	5	32077650	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	5191722	32077650	148837610	34	4627											
SSBP2	23635	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	80724478	80724478	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr5:80724478T>C	ENST00000320672.4	-	16	1192	c.982A>G	c.(982-984)Agt>Ggt	p.S328G	SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000514493.1_Missense_Mutation_p.S298G|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000505980.1_Missense_Mutation_p.S308G|SSBP2_ENST00000515395.1_Missense_Mutation_p.S306G	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	328					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GGTTGATTACTCAGGCTCATA	0.363																																					p.S336G		.											.	.	.	0			c.A1006G						.						78	79	78					5																	80724478		2203	4299	6502	SO:0001583	missense	23635	exon16			GATTACTCAGGCT	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"single-stranded DNA-binding protein 2"			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.982A>G	5.37:g.80724478T>C	ENSP00000322977:p.Ser328Gly	160	0		79	6	NM_001256732	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610688	0.66558	.	.	ENSG00000145687	ENST00000320672;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395	.	.	.	5.65	5.65	0.86999	.	0.076218	0.85682	D	0.000000	T	0.57504	0.2058	L	0.52573	1.65	0.52501	D	0.999954	P;P;P;P;P	0.43477	0.599;0.462;0.599;0.62;0.808	B;P;B;B;P	0.45712	0.422;0.491;0.422;0.383;0.479	T	0.52939	-0.8508	9	0.18710	T	0.47	-14.1851	16.175	0.81844	0.0:0.0:0.0:1.0	.	306;308;281;306;328	E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	G	328;298;281;242;231;308;306	.	ENSP00000322977:S328G	S	-	1	0	SSBP2	80760234	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.626000	0.83164	2.274000	0.75844	0.528000	0.53228	AGT	.		0.363	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		C	80724478	T	C	80724478	3	2	29	1	0	0	0	0	1	0	0	0	15227	1551	54	4	111	4	SSBP2	5	80724478	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	48646828	80724478	100190782	35	4628											
PCDHB8	56128	hgsc.bcm.edu	37	5	140559572	140559572	+	Missense_Mutation	SNP	T	T	C	rs17844504		TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr5:140559572T>C	ENST00000239444.2	+	1	2202	c.1957T>C	c.(1957-1959)Tgc>Cgc	p.C653R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	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)	p.C653R(1)		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)			CGAGCCTCCGTGCTCGGCCAC	0.711																																					p.C653R		.											PCDHB8,NS,malignant_melanoma,0,1	PCDHB8	0	1	Substitution - Missense(1)	NS(1)	c.T1957C						.						22	25	24					5																	140559572		2150	4208	6358	SO:0001583	missense	56128	exon1			CCTCCGTGCTCGG	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.1957T>C	5.37:g.140559572T>C	ENSP00000239444:p.Cys653Arg	84	1		74	3	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.657243	0.00779	.	.	ENSG00000120322	ENST00000239444	T	0.45276	0.9	4.22	3.33	0.38152	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08044	0.0201	N	0.00096	-2.155	0.36249	D	0.853792	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	9	0.05833	T	0.94	.	8.1883	0.31352	0.1644:0.7506:0.0:0.085	rs17844504	653	Q9UN66	PCDB8_HUMAN	R	653	ENSP00000239444:C653R	ENSP00000239444:C653R	C	+	1	0	PCDHB8	140539756	0.000000	0.05858	0.047000	0.18901	0.446000	0.32137	0.734000	0.26101	0.243000	0.21327	-0.711000	0.03637	TGC	.		0.711	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		C	140559572	T	C	140559572	3	2	29	1	0	0	0	0	1	0	0	0	11587	1696	59	4	1959	4	PCDHB8	5	140559572	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	59835094	140559572	40355688	36	4629											
ROS1	6098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	117663599	117663599	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr6:117663599G>A	ENST00000368508.3	-	28	4831	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S	ROS1_ENST00000368507.3_Missense_Mutation_p.P1539S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1545	Fibronectin type-III 6. {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)		TCTTTTCCTGGTGGTAAATGT	0.338			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																p.P1545S		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	.	.	.	0			c.C4633T						.						117	125	122					6																	117663599		2202	4299	6501	SO:0001583	missense	6098	exon28			TTCCTGGTGGTAA	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.4633C>T	6.37:g.117663599G>A	ENSP00000357494:p.Pro1545Ser	197	0		121	41	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563863	0.27915	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.56611	0.45;0.45	5.32	1.1	0.20463	.	0.734048	0.12130	N	0.496815	T	0.08670	0.0215	N	0.08118	0	0.42889	D	0.994192	B	0.17667	0.023	B	0.12156	0.007	T	0.36915	-0.9728	10	0.06757	T	0.87	.	3.9581	0.09399	0.0871:0.2742:0.4766:0.162	.	1545	P08922	ROS1_HUMAN	S	1545;1539	ENSP00000357494:P1545S;ENSP00000357493:P1539S	ENSP00000357493:P1539S	P	-	1	0	ROS1	117770292	0.077000	0.21312	0.983000	0.44433	0.890000	0.51754	0.088000	0.14979	0.276000	0.22118	0.561000	0.74099	CCA	.		0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			A	117663599	G	A	117663599	3	1	29	1	0	0	0	0	1	0	0	0	13576	1261	44	3	2474	3	ROS1	6	117663599	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		117663599	53451468	37	4630											
DCBLD1	285761	hgsc.bcm.edu	37	6	117861861	117861861	+	Missense_Mutation	SNP	C	C	T	rs150272298		TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr6:117861861C>T	ENST00000338728.5	+	10	1252	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000296955.8_Missense_Mutation_p.P378S|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	378	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CTTTCGGGACCCAGTGCAAAA	0.443																																					p.P378S		.											.	.	.	0			c.C1132T						.						125	125	125					6																	117861861		2203	4300	6503	SO:0001583	missense	285761	exon10			CGGGACCCAGTGC	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1132C>T	6.37:g.117861861C>T	ENSP00000342422:p.Pro378Ser	130	0		97	4	NM_173674	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37		.	.	.	.	.	.	.	.	.	.	C	12.18	1.860560	0.32884	.	.	ENSG00000164465	ENST00000296955;ENST00000392504;ENST00000338728	D;D	0.99014	-5.33;-5.33	4.54	3.67	0.42095	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.458938	0.20375	N	0.093570	D	0.93115	0.7808	L	0.41573	1.285	0.80722	D	1	B;B	0.18461	0.009;0.028	B;B	0.18263	0.012;0.021	D	0.89507	0.3768	10	0.08179	T	0.78	-12.86	6.3244	0.21234	0.3043:0.6024:0.0:0.0933	.	378;378	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	S	378;33;378	ENSP00000296955:P378S;ENSP00000342422:P378S	ENSP00000296955:P378S	P	+	1	0	DCBLD1	117968554	0.789000	0.28775	0.998000	0.56505	0.986000	0.74619	0.245000	0.18142	1.137000	0.42214	0.561000	0.74099	CCA	.		0.443	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		T	117861861	C	T	117861861	3	4	29	1	0	0	0	0	1	0	0	0	4289	623	22	3	1170	3	DCBLD1	6	117861861	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	198262	117861861	53253206	38	4631											
PNLDC1	154197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	160240039	160240039	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr6:160240039G>T	ENST00000610273.1	+	17	1457	c.1286G>T	c.(1285-1287)aGg>aTg	p.R429M	PNLDC1_ENST00000392167.3_Missense_Mutation_p.R440M	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	429						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCGTCAAAAGGTGGCCTGGG	0.473																																					p.R429M		.											.	.	.	0			c.G1286T						.						103	105	105					6																	160240039		2203	4300	6503	SO:0001583	missense	154197	exon17			TCAAAAGGTGGCC	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1286G>T	6.37:g.160240039G>T	ENSP00000476448:p.Arg429Met	50	0		22	9	NM_173516	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123932	0.20959	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	2.79	0.32731	.	0.477404	0.19030	N	0.124570	T	0.20170	0.0485	N	0.24115	0.695	0.32180	N	0.580422	P;D	0.57257	0.955;0.979	P;P	0.50231	0.614;0.635	T	0.04191	-1.0970	9	0.48119	T	0.1	.	9.0643	0.36453	0.1701:0.0:0.8299:0.0	.	440;429	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	M	429;440	.	ENSP00000275275:R429M	R	+	2	0	PNLDC1	160160029	0.670000	0.27512	0.985000	0.45067	0.143000	0.21401	0.724000	0.25954	0.553000	0.29044	-0.379000	0.06801	AGG	.		0.473	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		T	160240039	G	T	160240039	3	4	29	1	0	0	0	0	1	0	0	0	12187	1000	35	3	1348	3	PNLDC1	6	160240039	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	42378178	160240039	10875028	39	4632											
HNRNPA2B1	3181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	26237321	26237321	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr7:26237321A>G	ENST00000354667.4	-	3	242	c.74T>C	c.(73-75)aTt>aCt	p.I25T	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.I13T	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	25	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)		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						TAAGCCACCAATAAAGAGCTT	0.343			T	ETV1	prostate																																p.I25T		.		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	.	.	.	0			c.T74C						.						74	71	72					7																	26237321		2203	4300	6503	SO:0001583	missense	3181	exon3			CCACCAATAAAGA	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.74T>C	7.37:g.26237321A>G	ENSP00000346694:p.Ile25Thr	154	0		66	41	NM_031243	A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736135	0.89482	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	T;T	0.09163	3.01;3.01	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	T	0.43853	0.1266	M	0.92555	3.32	0.48901	D	0.99972	D;D	0.71674	0.998;0.995	D;D	0.74348	0.958;0.983	T	0.56275	-0.8006	10	0.87932	D	0	.	16.4069	0.83677	1.0:0.0:0.0:0.0	.	13;25	P22626-2;P22626	.;ROA2_HUMAN	T	25;13;13	ENSP00000346694:I25T;ENSP00000349101:I13T	ENSP00000346694:I25T	I	-	2	0	HNRNPA2B1	26203846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.253000	0.95501	2.272000	0.75746	0.460000	0.39030	ATT	.		0.343	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		G	26237321	A	G	26237321	3	3	29	1	0	0	0	0	1	0	0	0	7286	101	4	4	1023	4	HNRNPA2B1	7	26237321	Missense_Mutation	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09		26237321	132901342	40	4633											
PTPN12	5782	hgsc.bcm.edu	37	7	77230111	77230111	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr7:77230111G>T	ENST00000248594.6	+	8	955	c.683G>T	c.(682-684)tGt>tTt	p.C228F	PTPN12_ENST00000435495.2_Missense_Mutation_p.C98F|PTPN12_ENST00000415482.2_Missense_Mutation_p.C109F	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	228	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						GTTCCTATTTGTATTCATTGC	0.308																																					p.C228F		.											PTPN12,NS,carcinoma,0,1	PTPN12	0	0			c.G683T						.						78	72	74					7																	77230111		2203	4300	6503	SO:0001583	missense	5782	exon8			CTATTTGTATTCA		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.683G>T	7.37:g.77230111G>T	ENSP00000248594:p.Cys228Phe	70	0		36	2	NM_002835	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437093|4.437093	0.83885|0.83885	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495|ENST00000522115	D;D;D|.	0.83335|.	-1.71;-1.71;-1.71|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83422|0.83422	0.5251|0.5251	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85667|0.85667	0.1292|0.1292	10|5	0.87932|.	D|.	0|.	.|.	18.67|18.67	0.91507|0.91507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	228|.	Q05209|.	PTN12_HUMAN|.	F|L	228;109;109;98|167	ENSP00000248594:C228F;ENSP00000392429:C109F;ENSP00000397991:C98F|.	ENSP00000248594:C228F|.	C|V	+|+	2|1	0|0	PTPN12|PTPN12	77068047|77068047	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.807000|9.807000	0.99171|0.99171	2.422000|2.422000	0.82143|0.82143	0.557000|0.557000	0.71058|0.71058	TGT|GTA	.		0.308	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			T	77230111	G	T	77230111	3	4	29	1	0	0	0	0	1	0	0	0	12824	1377	48	3	713	3	PTPN12	7	77230111	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	50992790	77230111	81908552	41	4634											
PCLO	27445	broad.mit.edu	37	7	82545128	82545128	+	Silent	SNP	T	T	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr7:82545128T>G	ENST00000333891.9	-	7	12511	c.12174A>C	c.(12172-12174)ggA>ggC	p.G4058G	PCLO_ENST00000423517.2_Silent_p.G4058G|PCLO_ENST00000437081.1_Silent_p.G778G	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						ATGCCGCTGTTCCTTTGGTGA	0.433																																					p.G4058G													.	PCLO	1506	0			c.A12174C						.						98	88	91					7																	82545128		1955	4155	6110	SO:0001819	synonymous_variant	27445	exon7			CGCTGTTCCTTTG	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.12174A>C	7.37:g.82545128T>G		57	0		33	3	NM_014510		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																			.		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82545128	T	G	82545128	2	3	29	1	0	0	0	0	0	0	0	1	11622	1770	62	4		4	PCLO	7	82545128	Silent	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	5315017	82545128	76593535	42	4635											
FBXO24	26261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	100198331	100198331	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr7:100198331G>A	ENST00000241071.6	+	10	1874	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.A506T|FBXO24_ENST00000427939.2_Missense_Mutation_p.A556T	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	518					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GATGGCCCAGGCCTGCGAGGA	0.677																																					p.A556T		.											.	.	.	0			c.G1666A						.						54	50	51					7																	100198331		2203	4300	6503	SO:0001583	missense	26261	exon10			GCCCAGGCCTGCG	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1552G>A	7.37:g.100198331G>A	ENSP00000241071:p.Ala518Thr	49	0		32	15	NM_012172	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	g	10.97	1.501945	0.26949	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.17691	2.28;2.29;2.26	4.31	4.31	0.51392	.	0.000000	0.41500	D	0.000873	T	0.10337	0.0253	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.25719	0.132;0.132;0.132;0.132	B;B;B;B	0.22152	0.021;0.038;0.021;0.021	T	0.09400	-1.0676	10	0.66056	D	0.02	-15.6761	10.2567	0.43401	0.0:0.2013:0.7987:0.0	.	506;556;518;518	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	T	518;506;556	ENSP00000241071:A518T;ENSP00000420239:A506T;ENSP00000416558:A556T	ENSP00000241071:A518T	A	+	1	0	FBXO24	100036267	1.000000	0.71417	0.981000	0.43875	0.313000	0.28021	5.019000	0.64060	2.234000	0.73211	0.454000	0.30748	GCC	.		0.677	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			A	100198331	G	A	100198331	3	1	29	1	0	0	0	0	1	0	0	0	5757	1203	42	3	1747	3	FBXO24	7	100198331	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	17653203	100198331	58940332	43	4636											
CUX1	1523	hgsc.bcm.edu	37	7	101845271	101845271	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr7:101845271C>T	ENST00000292535.7	+	18	2732	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.T740T|CUX1_ENST00000546411.2_Silent_p.T796T|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.T909T|CUX1_ENST00000549414.2_Silent_p.T876T|CUX1_ENST00000550008.2_Silent_p.T842T	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	898					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						TGAGTCTGACCGGGGCCAGCC	0.672																																					p.T909T		.											CUX1,colon,carcinoma,0,1	CUX1	0	0			c.C2727T						.						91	87	88					7																	101845271		2203	4300	6503	SO:0001819	synonymous_variant	1523	exon18			TCTGACCGGGGCC	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.2694C>T	7.37:g.101845271C>T		110	0		70	2	NM_001202543	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	CCDS5721.1																																																																																			.		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		T	101845271	C	T	101845271	2	4	29	1	0	0	0	0	0	0	0	1	4073	639	23	1		1	CUX1	7	101845271	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	1646940	101845271	57293392	44	4637											
ASH2L	9070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	37996519	37996519	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr8:37996519C>A	ENST00000343823.6	+	16	2126	c.1817C>A	c.(1816-1818)aCc>aAc	p.T606N	ASH2L_ENST00000250635.7_Missense_Mutation_p.T479N|ASH2L_ENST00000428278.2_Missense_Mutation_p.T512N|ASH2L_ENST00000545394.1_Missense_Mutation_p.T467N|ASH2L_ENST00000521652.1_Missense_Mutation_p.T479N	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	606					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)				GTAGAGCACACCCTGGCTGAC	0.572																																					p.T606N		.											.	.	.	0			c.C1817A						.						67	56	59					8																	37996519		2203	4300	6503	SO:0001583	missense	9070	exon16			AGCACACCCTGGC	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.1817C>A	8.37:g.37996519C>A	ENSP00000340896:p.Thr606Asn	61	0		32	11	NM_004674	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497600	0.96355	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.80824	-0.27;-1.42;-1.21;-1.23;-1.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	L	0.51422	1.61	0.80722	D	1	D;D	0.71674	0.962;0.998	P;D	0.76071	0.719;0.987	D	0.85961	0.1470	10	0.44086	T	0.13	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	479;606	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	N	606;479;467;512;479	ENSP00000340896:T606N;ENSP00000250635:T479N;ENSP00000443606:T467N;ENSP00000395310:T512N;ENSP00000430259:T479N	ENSP00000250635:T479N	T	+	2	0	ASH2L	38115676	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	5.825000	0.69286	2.832000	0.97577	0.655000	0.94253	ACC	.		0.572	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		A	37996519	C	A	37996519	3	1	29	1	0	0	0	0	1	0	0	0	1043	507	18	3	1879	3	ASH2L	8	37996519	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		37996519	108367503	45	4638											
SLC20A2	6575	hgsc.bcm.edu	37	8	42287686	42287686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr8:42287686C>T	ENST00000342228.3	-	9	1974	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	SLC20A2_ENST00000520179.1_Nonsense_Mutation_p.W535*|SLC20A2_ENST00000520262.1_Nonsense_Mutation_p.W535*	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	535					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.W535*(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAAACAGCAGCCAGACGGGTG	0.537																																					p.W535X		.											SLC20A2,NS,carcinoma,0,1	SLC20A2	0	1	Substitution - Nonsense(1)	endometrium(1)	c.G1605A						.						83	75	77					8																	42287686		2203	4300	6503	SO:0001587	stop_gained	6575	exon9			CAGCAGCCAGACG		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1605G>A	8.37:g.42287686C>T	ENSP00000340465:p.Trp535*	123	0		69	3	NM_001257181		Nonsense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	41	9.010572	0.99035	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4643	17.3708	0.87377	0.0:1.0:0.0:0.0	.	.	.	.	X	535	.	ENSP00000340465:W535X	W	-	3	0	SLC20A2	42406843	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.818000	0.86416	2.709000	0.92574	0.561000	0.74099	TGG	.		0.537	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			T	42287686	C	T	42287686	4	4	29	1	0	0	0	0	0	1	0	0	14484	740	26	3	365	3	SLC20A2	8	42287686	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	4291167	42287686	104076336	46	4639											
EXOSC4	54512	hgsc.bcm.edu	37	8	145133719	145133719	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr8:145133719G>T	ENST00000316052.5	+	1	191	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C	EXOSC4_ENST00000525936.1_Missense_Mutation_p.G30C|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	30					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|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)|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)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGCGGATGGGCGTGTTCGC	0.731																																					p.G30C		.											EXOSC4,colon,carcinoma,0,1	EXOSC4	0	0			c.G88T						.						22	21	21					8																	145133719		2194	4291	6485	SO:0001583	missense	54512	exon1			CGGATGGGCGTGT	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"exosome component Rrp41"	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.88G>T	8.37:g.145133719G>T	ENSP00000315476:p.Gly30Cys	22	0		17	3	NM_019037		Missense_Mutation	SNP	ENST00000316052.5	37	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871837	0.91587	.	.	ENSG00000178896	ENST00000316052;ENST00000525936	T;T	0.72835	-0.69;-0.69	4.84	4.84	0.62591	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.067947	0.64402	D	0.000013	D	0.89815	0.6824	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93179	0.6573	10	0.87932	D	0	-23.9413	13.4418	0.61117	0.0:0.0:1.0:0.0	.	30	Q9NPD3	EXOS4_HUMAN	C	30	ENSP00000315476:G30C;ENSP00000432661:G30C	ENSP00000315476:G30C	G	+	1	0	EXOSC4	145205707	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.288000	0.65651	2.237000	0.73441	0.563000	0.77884	GGC	.		0.731	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		T	145133719	G	T	145133719	3	4	29	1	0	0	0	0	1	0	0	0	5333	1232	43	3	90	3	EXOSC4	8	145133719	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	102846033	145133719	1230303	47	4640											
NOTCH1	4851	broad.mit.edu	37	9	139399225	139399225	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr9:139399225C>T	ENST00000277541.6	-	26	4993	c.4918G>A	c.(4918-4920)Gca>Aca	p.A1640T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1640					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.A1641fs*2(2)|p.E1637_Q1648del(1)|p.A1641T(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)		GCGTCAGGTGCGGCCCAGCCC	0.716			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.A1640T				Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	NOTCH1,NS,lymphoid_neoplasm,0,1	NOTCH1	1980	4	Deletion - Frameshift(2)|Substitution - Missense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(4)	c.G4918A						.						6	8	7					9																	139399225		1926	4034	5960	SO:0001583	missense	4851	exon26			CAGGTGCGGCCCA	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.4918G>A	9.37:g.139399225C>T	ENSP00000277541:p.Ala1640Thr	53	0		26	3	NM_017617	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004695	0.07866	.	.	ENSG00000148400	ENST00000277541	D	0.81659	-1.52	4.37	-1.74	0.08056	.	0.372399	0.28600	N	0.014774	T	0.52500	0.1738	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43653	-0.9378	10	0.13853	T	0.58	.	10.1181	0.42603	0.0:0.4361:0.0:0.5639	.	1640	P46531	NOTC1_HUMAN	T	1640	ENSP00000277541:A1640T	ENSP00000277541:A1640T	A	-	1	0	NOTCH1	138519046	0.001000	0.12720	0.014000	0.15608	0.152000	0.21847	0.981000	0.29526	-0.220000	0.09988	0.579000	0.79373	GCA	.		0.716	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139399225	C	T	139399225	3	4	29	1	0	0	0	0	1	0	0	0	10586	768	27	1	2785	1	NOTCH1	9	139399225	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		139399225	1814206	48	4641											
PRKCQ	5588	broad.mit.edu	37	10	6527117	6527117	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr10:6527117T>C	ENST00000263125.5	-	10	1114	c.1015A>G	c.(1015-1017)Aga>Gga	p.R339G	PRKCQ_ENST00000397176.2_Missense_Mutation_p.R339G|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R214G	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	339					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CAGCTACCTCTTTTTCCCGGT	0.443																																					p.R339G	Ovarian(50;572 1126 10530 25349 30594)												.	PRKCQ	113	0			c.A1015G						.						186	180	182					10																	6527117		2203	4300	6503	SO:0001583	missense	5588	exon10			TACCTCTTTTTCC	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1015A>G	10.37:g.6527117T>C	ENSP00000263125:p.Arg339Gly	113	0		62	3	NM_006257	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	1.918	-0.448976	0.04572	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.68765	-0.35;-0.29;-0.35	5.22	2.87	0.33458	.	0.495001	0.24705	N	0.036269	T	0.49898	0.1584	N	0.19112	0.55	0.25513	N	0.987442	B;B;B;B	0.12630	0.004;0.0;0.0;0.006	B;B;B;B	0.14023	0.008;0.0;0.0;0.01	T	0.26849	-1.0091	10	0.27785	T	0.31	.	13.1288	0.59369	0.0:0.0:0.2721:0.7279	.	214;111;339;339	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	G	339;339;214	ENSP00000263125:R339G;ENSP00000380361:R339G;ENSP00000441752:R214G	ENSP00000263125:R339G	R	-	1	2	PRKCQ	6567123	0.997000	0.39634	0.377000	0.26055	0.006000	0.05464	2.538000	0.45710	0.058000	0.16222	-1.255000	0.01485	AGA	.		0.443	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		C	6527117	T	C	6527117	3	2	29	1	0	0	0	0	1	0	0	0	12557	1617	56	4	1141	4	PRKCQ	10	6527117	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09		6527117	129007630	49	4642											
ITGB1	3688	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	33211229	33211229	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr10:33211229C>T	ENST00000396033.2	-	9	1219	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	ITGB1_ENST00000423113.1_Missense_Mutation_p.A362T|ITGB1_ENST00000302278.3_Missense_Mutation_p.A362T|ITGB1_ENST00000374956.4_Missense_Mutation_p.A362T	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	362	VWFA.				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)	CTAGAATTTGCAGATAATGTT	0.328																																					p.A362T		.											.	.	.	0			c.G1084A						.						174	159	164					10																	33211229		2203	4300	6503	SO:0001583	missense	3688	exon9			AATTTGCAGATAA	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.1084G>A	10.37:g.33211229C>T	ENSP00000379350:p.Ala362Thr	71	0		40	4	NM_002211	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386352	0.42308	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.84	3.97	0.46021	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.214881	0.48286	D	0.000183	T	0.49898	0.1584	L	0.31752	0.955	0.30704	N	0.75003	B;B;B;B;B	0.17038	0.008;0.01;0.004;0.009;0.02	B;B;B;B;B	0.17722	0.009;0.015;0.019;0.009;0.014	T	0.47649	-0.9101	10	0.30078	T	0.28	.	14.2044	0.65725	0.5545:0.4455:0.0:0.0	.	362;362;362;362;362	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	T	362	ENSP00000379350:A362T;ENSP00000388694:A362T;ENSP00000303351:A362T;ENSP00000364094:A362T	ENSP00000303351:A362T	A	-	1	0	ITGB1	33251235	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.503000	0.35715	0.808000	0.34231	-0.953000	0.02652	GCA	.		0.328	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		T	33211229	C	T	33211229	3	4	29	1	0	0	0	0	1	0	0	0	7917	710	25	3	1582	3	ITGB1	10	33211229	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	26684112	33211229	102323518	50	4643											
PRKG1	5592	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	54040674	54040674	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr10:54040674G>A	ENST00000401604.2	+	13	1678	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R213Q|PRKG1_ENST00000373980.4_Missense_Mutation_p.R510Q|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.R483Q			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	495	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)		CTAGATCACCGAGGTTATGCC	0.383																																					p.R510Q		.											.	.	.	0			c.G1529A						.						118	101	107					10																	54040674		2203	4300	6503	SO:0001583	missense	5592	exon13			ATCACCGAGGTTA		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.1484G>A	10.37:g.54040674G>A	ENSP00000384200:p.Arg495Gln	90	0		56	5	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025845	0.35701	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.07800	3.16;3.16;3.16	5.56	4.66	0.58398	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	0.03783	0.0107	N	0.16602	0.42	0.53005	D	0.999961	B;B;B	0.32829	0.016;0.132;0.386	B;B;B	0.20184	0.017;0.016;0.028	T	0.23940	-1.0174	10	0.02654	T	1	-7.9179	10.4615	0.44583	0.1499:0.0:0.8501:0.0	.	213;510;495	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Q	495;483;510;213;107	ENSP00000384200:R495Q;ENSP00000363097:R483Q;ENSP00000363092:R510Q	ENSP00000327642:R213Q	R	+	2	0	PRKG1	53710680	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	6.777000	0.75028	1.362000	0.46000	-0.150000	0.13652	CGA	.		0.383	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	54040674	G	A	54040674	3	1	29	1	0	0	0	0	1	0	0	0	12564	1058	37	1	1849	1	PRKG1	10	54040674	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	20829445	54040674	81494073	51	4644											
CDH23	414152	hgsc.bcm.edu	37	10	73468897	73468897	+	IGR	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr10:73468897C>T	ENST00000441508.2	-	0	4837				CDH23_ENST00000224721.6_Missense_Mutation_p.A1055V	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											TACCGCGATGCCGTTGTGAGA	0.632																																					p.A1050V		.											CDH23,NS,carcinoma,0,1	CDH23	0	0			c.C3149T						.						94	115	108					10																	73468897		2144	4249	6393	SO:0001628	intergenic_variant	64072	exon26			GCGATGCCGTTGT	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.73468897C>T		94	0		32	2	NM_022124		Missense_Mutation	SNP	ENST00000441508.2	37	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240816	0.79912	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000224721;ENST00000442677	.	.	.	4.97	2.91	0.33838	Cadherin (4);Cadherin-like (1);	0.080498	0.47852	D	0.000217	T	0.48768	0.1518	L	0.27053	0.805	0.80722	D	1	P;B	0.49862	0.929;0.196	P;B	0.50825	0.651;0.165	T	0.57277	-0.7839	9	0.87932	D	0	.	13.8212	0.63322	0.0:0.6192:0.3808:0.0	.	1050;1050	Q6P152;Q9H251	.;CAD23_HUMAN	V	1055;1050;1050;1053;567	.	ENSP00000224721:A1055V	A	+	2	0	CDH23	73138903	1.000000	0.71417	0.280000	0.24747	0.470000	0.32858	5.912000	0.69948	2.313000	0.78055	0.650000	0.86243	GCC	.		0.632	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		T	73468897	C	T	73468897	1	4	29	0	1	0	0	0	0	0	0	0	3115	739	26	3		3	CDH23	10	73468897	IGR	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	19428223	73468897	62065850	52	4645											
BTRC	8945	hgsc.bcm.edu	37	10	103281468	103281468	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr10:103281468G>A	ENST00000370187.3	+	5	515	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	BTRC_ENST00000408038.2_Missense_Mutation_p.E97K|BTRC_ENST00000393441.4_Missense_Mutation_p.E92K	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	133	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|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)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E133K(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTATGAAAAGGAAAAGGAACT	0.408																																					p.E133K		.											BTRC,NS,carcinoma,0,1	BTRC	0	1	Substitution - Missense(1)	lung(1)	c.G397A						.						121	110	114					10																	103281468		2203	4300	6503	SO:0001583	missense	8945	exon5			GAAAAGGAAAAGG	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.397G>A	10.37:g.103281468G>A	ENSP00000359206:p.Glu133Lys	122	0		36	2	NM_033637	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753323	0.89753	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T	0.61742	0.23;0.24;0.08	5.6	5.6	0.85130	.	0.152135	0.45867	D	0.000340	T	0.59224	0.2178	L	0.57536	1.79	0.54753	D	0.999981	B;B;B	0.14805	0.006;0.011;0.003	B;B;B	0.17433	0.008;0.018;0.009	T	0.55885	-0.8070	10	0.59425	D	0.04	-6.5964	20.0343	0.97551	0.0:0.0:1.0:0.0	.	107;97;133	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	K	133;92;97;115	ENSP00000359206:E133K;ENSP00000377088:E92K;ENSP00000385339:E97K	ENSP00000359202:E115K	E	+	1	0	BTRC	103271458	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.810000	0.99221	2.803000	0.96430	0.650000	0.86243	GAA	.		0.408	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		A	103281468	G	A	103281468	3	1	29	1	0	0	0	0	1	0	0	0	1573	1175	41	3	415	3	BTRC	10	103281468	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	29812571	103281468	32253279	53	4646											
CUZD1	50624	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	124594545	124594545	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr10:124594545G>A	ENST00000368904.1	-	9	2008	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	CUZD1_ENST00000545804.1_Silent_p.I353I|CUZD1_ENST00000392790.1_Silent_p.I353I					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCTGACGGGTGATCACTTCAG	0.343																																					p.I353I													.	CUZD1	82	0			c.C1059T						.						114	110	111					10																	124594545		2203	4300	6503	SO:0001819	synonymous_variant	50624	exon7			ACGGGTGATCACT	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1059C>T	10.37:g.124594545G>A		89	0		60	24	NM_022034		Silent	SNP	ENST00000368904.1	37	CCDS7631.1																																																																																			.		0.343	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		A	124594545	G	A	124594545	2	1	29	1	0	0	0	0	0	0	0	1	4075	1280	45	3		3	CUZD1	10	124594545	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	21313077	124594545	10940202	54	4647											
MKI67	4288	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	129913724	129913724	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr10:129913724G>T	ENST00000368654.3	-	7	1323	c.948C>A	c.(946-948)aaC>aaA	p.N316K	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	316					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)				CCTTCCCCTTGTTCTGGTCAA	0.557																																					p.N316K													.	MKI67	363	0			c.C948A						.						76	80	78					10																	129913724		2203	4300	6503	SO:0001583	missense	4288	exon7			CCCCTTGTTCTGG	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.948C>A	10.37:g.129913724G>T	ENSP00000357643:p.Asn316Lys	61	1		41	20	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	g	1.345	-0.592914	0.03771	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01228	5.14	3.17	-6.34	0.01982	.	3.199670	0.00674	N	0.000654	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45071	-0.9286	10	0.87932	D	0	.	3.3413	0.07119	0.2535:0.323:0.3295:0.094	.	316	P46013	KI67_HUMAN	K	316	ENSP00000357643:N316K	ENSP00000357643:N316K	N	-	3	2	MKI67	129803714	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.251000	0.00266	-3.519000	0.00148	-1.865000	0.00557	AAC	.		0.557	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129913724	G	T	129913724	3	4	29	1	0	0	0	0	1	0	0	0	9636	1368	48	3	8858	3	MKI67	10	129913724	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	5319179	129913724	5621023	55	4648											
MUC5B	727897	broad.mit.edu;bcgsc.ca	37	11	1269861	1269861	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:1269861A>G	ENST00000529681.1	+	31	11809	c.11751A>G	c.(11749-11751)acA>acG	p.T3917T	MUC5B_ENST00000447027.1_Silent_p.T3920T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3917	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)		ACACCCCCACAGTGCTGACCA	0.627																																					p.T3917T													.	MUC5B	473	0			c.A11751G						.						60	71	68					11																	1269861		1979	4124	6103	SO:0001819	synonymous_variant	727897	exon31			CCCCACAGTGCTG	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.11751A>G	11.37:g.1269861A>G		186	0		124	48	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1269861	A	G	1269861	2	3	29	1	0	0	0	0	0	0	0	1	10017	175	7	4		4	MUC5B	11	1269861	Silent	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09		1269861	133736655	56	4649											
OR52E8	390079	hgsc.bcm.edu	37	11	5878458	5878458	+	Silent	SNP	G	G	A	rs549924845	byFrequency	TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	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	5008	,	,		18808	0		0	False		,,,				2504	0.001				p.L159L		.											OR52E8,NS,carcinoma,0,1	OR52E8	0	0			c.C475T						.						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		50	0		29	2	NM_001005168	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																			.		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878458	G	A	5878458	2	1	29	1	0	0	0	0	0	0	0	1	11157	991	35	3		3	OR52E8	11	5878458	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	4608597	5878458	129128058	57	4650											
EIF4G2	1982	hgsc.bcm.edu	37	11	10822519	10822519	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:10822519G>T	ENST00000526148.1	-	15	2039	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	EIF4G2_ENST00000396525.2_Missense_Mutation_p.P472H|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P510H|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P510H|RP11-685M7.5_ENST00000532365.1_RNA	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)		CTGTCCCAGAGGTGGTGTTTG	0.418																																					p.P510H		.											.	.	.	0			c.C1529A						.						220	206	210					11																	10822519		2201	4294	6495	SO:0001583	missense	1982	exon15			CCCAGAGGTGGTG	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.1529C>A	11.37:g.10822519G>T	ENSP00000433664:p.Pro510His	101	0		76	4	NM_001172705		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734256	0.69189	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.49432	2.2;2.2;2.2;2.19;0.78	5.92	5.92	0.95590	.	0.047697	0.85682	D	0.000000	T	0.61837	0.2379	L	0.52573	1.65	0.44268	D	0.997127	D;B;D	0.76494	0.996;0.144;0.999	P;B;P	0.59703	0.794;0.035;0.862	T	0.55451	-0.8139	9	0.38643	T	0.18	-6.1138	20.3206	0.98668	0.0:0.0:1.0:0.0	.	472;510;583	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	H	510;510;510;472;583;15	ENSP00000433664:P510H;ENSP00000433371:P510H;ENSP00000340281:P510H;ENSP00000379778:P472H;ENSP00000433561:P15H	ENSP00000340281:P510H	P	-	2	0	EIF4G2	10779095	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.565000	0.82337	2.809000	0.96659	0.655000	0.94253	CCT	.		0.418	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		T	10822519	G	T	10822519	3	4	29	1	0	0	0	0	1	0	0	0	5053	1000	35	3	1226	3	EIF4G2	11	10822519	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	4944061	10822519	124183997	58	4651											
OR5L2	26338	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	55595251	55595251	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:55595251G>A	ENST00000378397.1	+	1	557	c.557G>A	c.(556-558)aGt>aAt	p.S186N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	186						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)				CCTCTCCTAAGTCTTGCTTGC	0.458										HNSCC(27;0.073)																											p.S186N													OR5L2,NS,carcinoma,+1,1	OR5L2	135	0			c.G557A						.						244	220	228					11																	55595251		2200	4296	6496	SO:0001583	missense	26338	exon1			TCCTAAGTCTTGC	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.557G>A	11.37:g.55595251G>A	ENSP00000367650:p.Ser186Asn	86	0		36	15	NM_001004739	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	5.651	0.304720	0.10678	.	.	ENSG00000205030	ENST00000378397	T	0.00130	8.69	5.24	0.981	0.19756	GPCR, rhodopsin-like superfamily (1);	0.353680	0.24693	N	0.036362	T	0.00109	0.0003	L	0.31294	0.92	0.09310	N	1	B	0.18013	0.025	B	0.21151	0.033	T	0.22556	-1.0213	10	0.49607	T	0.09	-7.0474	8.0132	0.30365	0.2953:0.2167:0.488:0.0	.	186	Q8NGL0	OR5L2_HUMAN	N	186	ENSP00000367650:S186N	ENSP00000367650:S186N	S	+	2	0	OR5L2	55351827	0.000000	0.05858	0.440000	0.26846	0.179000	0.23085	-1.401000	0.02502	0.315000	0.23110	0.632000	0.83419	AGT	.		0.458	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		A	55595251	G	A	55595251	3	1	29	1	0	0	0	0	1	0	0	0	11210	1029	36	3	559	3	OR5L2	11	55595251	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	44772732	55595251	79411265	59	4652											
SSRP1	6749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	57100235	57100235	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:57100235C>A	ENST00000278412.2	-	6	898	c.632G>T	c.(631-633)cGt>cTt	p.R211L		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	211					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						ATAACGACCACGAGGAGTCAG	0.527																																					p.R211L	Colon(89;1000 1340 6884 23013 41819)	.											.	.	.	0			c.G632T						.						88	84	85					11																	57100235		2201	4296	6497	SO:0001583	missense	6749	exon6			CGACCACGAGGAG	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.632G>T	11.37:g.57100235C>A	ENSP00000278412:p.Arg211Leu	57	0		42	18	NM_003146	Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165936	0.57476	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.61158	0.13;0.13;0.13	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86649	0.1897	10	0.87932	D	0	-5.8096	20.0291	0.97531	0.0:1.0:0.0:0.0	.	211	Q08945	SSRP1_HUMAN	L	211;114;114	ENSP00000278412:R211L;ENSP00000431154:R114L;ENSP00000434546:R114L	ENSP00000278412:R211L	R	-	2	0	SSRP1	56856811	1.000000	0.71417	0.954000	0.39281	0.076000	0.17211	5.367000	0.66127	2.838000	0.97847	0.561000	0.74099	CGT	.		0.527	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		A	57100235	C	A	57100235	3	1	29	1	0	0	0	0	1	0	0	0	15241	536	19	2	1545	2	SSRP1	11	57100235	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	1504984	57100235	77906281	60	4653											
SLC3A2	6520	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62655849	62655849	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:62655849T>C	ENST00000377890.2	+	12	1745	c.1577T>C	c.(1576-1578)cTg>cCg	p.L526P	SLC3A2_ENST00000377889.2_Missense_Mutation_p.L464P|SLC3A2_ENST00000536981.1_Missense_Mutation_p.L71P|SLC3A2_ENST00000535296.1_Missense_Mutation_p.L495P|SLC3A2_ENST00000377891.2_Missense_Mutation_p.L527P|SLC3A2_ENST00000377892.1_Missense_Mutation_p.L557P|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.L425P	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	526					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						TTCCGGCGGCTGAGTGACCAG	0.587																																					p.L527P		.											.	.	.	0			c.T1580C						.						52	50	51					11																	62655849		2201	4298	6499	SO:0001583	missense	6520	exon12			GGCGGCTGAGTGA		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.1577T>C	11.37:g.62655849T>C	ENSP00000367122:p.Leu526Pro	89	0		52	18	NM_001012662	Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568040	0.65651	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000536981	D;D;D;D;D;D;D	0.99820	-5.74;-5.78;-5.8;-5.74;-5.74;-5.75;-6.93	4.67	4.67	0.58626	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.255214	0.31936	N	0.006838	D	0.99840	0.9927	M	0.92691	3.335	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	0.96787	0.9579	10	0.87932	D	0	-11.3887	12.1217	0.53895	0.0:0.0:0.0:1.0	.	464;495;526;425;557	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	P	557;527;526;527;464;495;425;407;71	ENSP00000367124:L557P;ENSP00000367123:L527P;ENSP00000367122:L526P;ENSP00000367121:L464P;ENSP00000444236:L495P;ENSP00000340815:L425P;ENSP00000444439:L71P	ENSP00000340815:L425P	L	+	2	0	SLC3A2	62412425	1.000000	0.71417	0.993000	0.49108	0.805000	0.45488	6.308000	0.72820	1.762000	0.52044	0.248000	0.18094	CTG	.		0.587	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		C	62655849	T	C	62655849	3	2	29	1	0	0	0	0	1	0	0	0	14672	1580	55	4	1723	4	SLC3A2	11	62655849	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	5555614	62655849	72350667	61	4654											
RPS3	6188	broad.mit.edu;bcgsc.ca	37	11	75113481	75113481	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:75113481C>T	ENST00000531188.1	+	4	403	c.341C>T	c.(340-342)gCt>gTt	p.A114V	RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000530164.1_Missense_Mutation_p.A114V|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000526608.1_Missense_Mutation_p.A102V|SNORD15A_ENST00000384214.1_RNA|RPS3_ENST00000278572.6_Missense_Mutation_p.A130V|RPS3_ENST00000524851.1_Missense_Mutation_p.A114V|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Missense_Mutation_p.A114V	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	114					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GGAGGGCTTGCTGTGCGGAGG	0.453																																					p.A130V													.	RPS3	20	0			c.C389T						.						101	94	96					11																	75113481		2200	4293	6493	SO:0001583	missense	6188	exon4			GGCTTGCTGTGCG		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"S ribosomal proteins"	10420	protein-coding gene	gene with protein product	"IMR-90 ribosomal protein S3", "40S ribosomal protein S3"	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.341C>T	11.37:g.75113481C>T	ENSP00000434643:p.Ala114Val	62	0		36	4	NM_001260506	B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	CCDS8236.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490470	0.84962	.	.	ENSG00000149273	ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851	.	.	.	5.17	5.17	0.71159	Ribosomal protein S3, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.80028	2.48	0.80722	D	1	B	0.20988	0.05	B	0.32864	0.154	T	0.73795	-0.3870	9	0.87932	D	0	-17.0918	16.2237	0.82280	0.0:1.0:0.0:0.0	.	114	P23396	RS3_HUMAN	V	114;114;114;130;114;102;114	.	ENSP00000278572:A130V	A	+	2	0	RPS3	74791129	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.651000	0.83577	2.692000	0.91855	0.655000	0.94253	GCT	.		0.453	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		T	75113481	C	T	75113481	3	4	29	1	0	0	0	0	1	0	0	0	13688	797	28	3	355	3	RPS3	11	75113481	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	12457632	75113481	59893035	62	4655											
HEPHL1	341208	hgsc.bcm.edu	37	11	93834378	93834378	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:93834378G>T	ENST00000315765.9	+	14	2460	c.2452G>T	c.(2452-2454)Gag>Tag	p.E818*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	818	Plastocyanin-like 5.				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)				GATTCATGCTGAGGTGGGCAA	0.433																																					p.E818X		.											.	.	.	0			c.G2452T						.						145	137	140					11																	93834378		1898	4113	6011	SO:0001587	stop_gained	341208	exon14			CATGCTGAGGTGG	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.2452G>T	11.37:g.93834378G>T	ENSP00000313699:p.Glu818*	81	0		47	4	NM_001098672	Q3C1W7	Nonsense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	37	6.516699	0.97629	.	.	ENSG00000181333	ENST00000315765	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.5157	0.95162	0.0:0.0:1.0:0.0	.	.	.	.	X	818	.	ENSP00000313699:E818X	E	+	1	0	HEPHL1	93474026	1.000000	0.71417	0.965000	0.40720	0.269000	0.26545	7.017000	0.76399	2.604000	0.88044	0.557000	0.71058	GAG	.		0.433	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93834378	G	T	93834378	4	4	29	1	0	0	0	0	0	1	0	0	7082	1291	45	3	2506	3	HEPHL1	11	93834378	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	18720897	93834378	41172138	63	4656											
KCNJ5	3762	broad.mit.edu	37	11	128781861	128781861	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr11:128781861G>T	ENST00000338350.4	+	3	1045	c.693G>T	c.(691-693)gaG>gaT	p.E231D	KCNJ5_ENST00000533599.1_Missense_Mutation_p.E231D|KCNJ5_ENST00000529694.1_Missense_Mutation_p.E231D			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	231					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)	ACATCGTGGAGGCCTCCATCC	0.597																																					p.E231D	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												.	KCNJ5	560	0			c.G693T						.						83	87	85					11																	128781861		2201	4297	6498	SO:0001583	missense	3762	exon2			CGTGGAGGCCTCC	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.693G>T	11.37:g.128781861G>T	ENSP00000339960:p.Glu231Asp	48	2		37	4	NM_000890	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455298	0.63401	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.92249	-3.0;-3.0;-3.0	5.46	3.59	0.41128	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	0.89382	0.6699	L	0.42487	1.325	0.42256	D	0.991993	B	0.28350	0.208	B	0.38225	0.268	D	0.85352	0.1102	10	0.49607	T	0.09	.	9.2706	0.37668	0.2198:0.0:0.7802:0.0	.	231	P48544	IRK5_HUMAN	D	231	ENSP00000433295:E231D;ENSP00000339960:E231D;ENSP00000434266:E231D	ENSP00000339960:E231D	E	+	3	2	KCNJ5	128287071	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.507000	0.45442	0.669000	0.31146	0.561000	0.74099	GAG	.		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		T	128781861	G	T	128781861	3	4	29	1	0	0	0	0	1	0	0	0	8081	991	35	3	695	3	KCNJ5	11	128781861	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	34947483	128781861	6224655	64	4657											
KCNH3	23416	hgsc.bcm.edu	37	12	49948260	49948260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr12:49948260G>T	ENST00000257981.6	+	11	2319	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	687					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)	p.E687K(1)		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						GCTGTACCCCGAGTTTGCCCC	0.632																																					p.E687X		.											KCNH3,rectum,carcinoma,0,1	KCNH3	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2059T						.						61	60	60					12																	49948260		2203	4300	6503	SO:0001587	stop_gained	23416	exon11			TACCCCGAGTTTG	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.2059G>T	12.37:g.49948260G>T	ENSP00000257981:p.Glu687*	74	0		47	2	NM_012284	Q9UQ06	Nonsense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	41	8.752464	0.98939	.	.	ENSG00000135519	ENST00000257981	.	.	.	4.81	4.81	0.61882	.	0.000000	0.47455	D	0.000230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	.	.	.	X	687	.	ENSP00000257981:E687X	E	+	1	0	KCNH3	48234527	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.789000	0.99068	2.628000	0.89032	0.563000	0.77884	GAG	.		0.632	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		T	49948260	G	T	49948260	4	4	29	1	0	0	0	0	0	1	0	0	8060	1059	37	2	2101	2	KCNH3	12	49948260	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		49948260	83903635	65	4658											
ITGA7	3679	hgsc.bcm.edu	37	12	56090083	56090083	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr12:56090083C>T	ENST00000555728.1	-	14	2031	c.2003G>A	c.(2002-2004)aGc>aAc	p.S668N	ITGA7_ENST00000257879.6_Missense_Mutation_p.S624N|ITGA7_ENST00000394230.2_Missense_Mutation_p.S628N|ITGA7_ENST00000452168.2_Missense_Mutation_p.S531N|ITGA7_ENST00000257880.7_Missense_Mutation_p.S668N|ITGA7_ENST00000553804.1_Missense_Mutation_p.S628N|ITGA7_ENST00000394229.2_Missense_Mutation_p.S624N|ITGA7_ENST00000347027.6_Missense_Mutation_p.S618N			Q13683	ITA7_HUMAN	integrin, alpha 7	668					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)	p.S624I(1)		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						CCGCTGGGTGCTGGGCTGGTG	0.647																																					p.S628N		.											ITGA7,colon,carcinoma,0,1	ITGA7	0	1	Substitution - Missense(1)	large_intestine(1)	c.G1883A						.						14	15	15					12																	56090083		2198	4294	6492	SO:0001583	missense	3679	exon13			TGGGTGCTGGGCT		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.2003G>A	12.37:g.56090083C>T	ENSP00000452387:p.Ser668Asn	97	0		47	2	NM_001144996	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	C	12.59	1.982840	0.34942	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.31	4.4	0.53042	Integrin alpha-2 (1);	0.124970	0.53938	D	0.000044	T	0.30823	0.0777	N	0.19112	0.55	0.36938	D	0.892223	B;B;B;B	0.19200	0.034;0.022;0.017;0.033	B;B;B;B	0.28011	0.029;0.085;0.051;0.045	T	0.20840	-1.0263	10	0.17832	T	0.49	.	9.2165	0.37351	0.0:0.9026:0.0:0.0974	.	531;668;628;687	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	N	628;624;618;531;668;628;624;668	ENSP00000452120:S628N;ENSP00000257879:S624N;ENSP00000343009:S618N;ENSP00000393844:S531N;ENSP00000257880:S668N;ENSP00000377777:S628N;ENSP00000377776:S624N;ENSP00000452387:S668N	ENSP00000257879:S624N	S	-	2	0	ITGA7	54376350	0.960000	0.32886	1.000000	0.80357	0.995000	0.86356	1.338000	0.33873	2.660000	0.90430	0.561000	0.74099	AGC	.		0.647	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		T	56090083	C	T	56090083	3	4	29	1	0	0	0	0	1	0	0	0	7908	797	28	3	1594	3	ITGA7	12	56090083	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	6141823	56090083	77761812	66	4659											
TRAFD1	10906	ucsc.edu;bcgsc.ca	37	12	112583461	112583461	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr12:112583461C>T	ENST00000257604.5	+	7	1539	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	TRAFD1_ENST00000412615.2_Missense_Mutation_p.H308Y	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	308					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GCTGATTGACCATCAGGTGTG	0.438																																					p.H308Y													.	TRAFD1	42	0			c.C922T						.						229	209	216					12																	112583461		2203	4300	6503	SO:0001583	missense	10906	exon7			ATTGACCATCAGG	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.922C>T	12.37:g.112583461C>T	ENSP00000257604:p.His308Tyr	88	1		41	4	NM_001143906	A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878797	0.72294	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000548277	T;T	0.73575	-0.76;-0.76	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.87434	0.6176	M	0.79475	2.455	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.87626	0.2513	10	0.87932	D	0	-22.5341	20.0471	0.97613	0.0:1.0:0.0:0.0	.	308	O14545	TRAD1_HUMAN	Y	308;308;102	ENSP00000396526:H308Y;ENSP00000257604:H308Y	ENSP00000257604:H308Y	H	+	1	0	TRAFD1	111067844	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	6.088000	0.71371	2.838000	0.97847	0.591000	0.81541	CAT	.		0.438	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		T	112583461	C	T	112583461	3	4	29	1	0	0	0	0	1	0	0	0	16495	594	21	3	944	3	TRAFD1	12	112583461	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	56493378	112583461	21268434	67	4660											
IPO5	3843	hgsc.bcm.edu	37	13	98671935	98671935	+	Silent	SNP	C	C	A	rs145166442		TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr13:98671935C>A	ENST00000490680.1	+	24	3002	c.2937C>A	c.(2935-2937)atC>atA	p.I979I	IPO5_ENST00000539640.1_Silent_p.I854I|IPO5_ENST00000261574.5_Silent_p.I997I			O00410	IPO5_HUMAN	importin 5	979					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.I997I(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAGGGAAAATCATGAAGTTCA	0.433																																					p.I997I		.											IPO5,arm,malignant_melanoma,0,1	IPO5	0	1	Substitution - coding silent(1)	skin(1)	c.C2991A						.						127	118	121					13																	98671935		2203	4300	6503	SO:0001819	synonymous_variant	3843	exon27			GAAAATCATGAAG	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.2937C>A	13.37:g.98671935C>A		76	0		37	2	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	C	9.555	1.116908	0.20795	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.95	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.5349	0.811	0.01093	0.2845:0.2226:0.2945:0.1984	.	.	.	.	X	981	.	.	S	+	2	0	IPO5	97469936	0.188000	0.23250	0.100000	0.21137	0.991000	0.79684	-0.408000	0.07169	-2.368000	0.00604	-0.133000	0.14855	TCA	.		0.433	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		A	98671935	C	A	98671935	2	1	29	1	0	0	0	0	0	0	0	1	7823	816	29	3		3	IPO5	13	98671935	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		98671935	16497943	68	4661											
TRIP11	9321	hgsc.bcm.edu	37	14	92469882	92469882	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr14:92469882G>T	ENST00000267622.4	-	11	4811	c.4438C>A	c.(4438-4440)Caa>Aaa	p.Q1480K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1480					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)		TGTAACGCTTGATATTCTGTT	0.378			T	PDGFRB	AML																																p.Q1480K	Ovarian(84;609 1888 9852 42686)	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	.	0			c.C4438A						.						234	229	230					14																	92469882		2203	4300	6503	SO:0001583	missense	9321	exon11			ACGCTTGATATTC	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.4438C>A	14.37:g.92469882G>T	ENSP00000267622:p.Gln1480Lys	145	0		90	4	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.508|3.508	-0.100469|-0.100469	0.06967|0.06967	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04049|.	3.72|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.056959|.	0.64402|.	D|.	0.000002|.	T|.	0.42607|.	0.1210|.	L|L	0.34521|0.34521	1.04|1.04	0.31314|0.31314	N|N	0.686823|0.686823	B;P|.	0.35575|.	0.228;0.51|.	B;B|.	0.36567|.	0.121;0.228|.	T|.	0.46456|.	-0.9190|.	10|.	0.31617|.	T|.	0.26|.	.|.	9.8219|9.8219	0.40887|0.40887	0.0716:0.0:0.7894:0.1389|0.0716:0.0:0.7894:0.1389	.|.	1216;1480|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|X	1480;1216|1195	ENSP00000267622:Q1480K|.	ENSP00000267622:Q1480K|.	Q|S	-|-	1|2	0|0	TRIP11|TRIP11	91539635|91539635	1.000000|1.000000	0.71417|0.71417	0.380000|0.380000	0.26093|0.26093	0.089000|0.089000	0.18198|0.18198	2.597000|2.597000	0.46214|0.46214	2.684000|2.684000	0.91462|0.91462	0.313000|0.313000	0.20887|0.20887	CAA|TCA	.		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			T	92469882	G	T	92469882	3	4	29	1	0	0	0	0	1	0	0	0	16603	1299	45	3	1545	3	TRIP11	14	92469882	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		92469882	14879658	69	4662											
C15orf2	23742	hgsc.bcm.edu	37	15	24924482	24924482	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr15:24924482G>A	ENST00000329468.2	+	1	3942	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1156P(1)									TCCAACTTCCGTAAGAGCACC	0.423																																					p.P1156P		.											C15orf2,NS,carcinoma,0,1	C15orf2	0	1	Substitution - coding silent(1)	lung(1)	c.G3468A						.						70	62	64					15																	24924482		2202	4298	6500	SO:0001819	synonymous_variant	23742	exon1			ACTTCCGTAAGAG	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.3468G>A	15.37:g.24924482G>A		58	0		44	2	NM_018958		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																			.		0.423	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24924482	G	A	24924482	2	1	29	1	0	0	0	0	0	0	0	1	1789	1132	40	1		1	C15orf2	15	24924482	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		24924482	77606910	70	4663											
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	54305275	54305275	+	Missense_Mutation	SNP	T	T	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr15:54305275T>A	ENST00000260323.11	+	1	175	c.175T>A	c.(175-177)Ttt>Att	p.F59I	UNC13C_ENST00000545554.1_Missense_Mutation_p.F59I|UNC13C_ENST00000537900.1_Missense_Mutation_p.F59I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	59					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)		TTCTTACACTTTTAAAAGCAC	0.408																																					p.F59I		.											.	.	.	0			c.T175A						.						87	89	88					15																	54305275		1836	4070	5906	SO:0001583	missense	440279	exon1			TACACTTTTAAAA	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.175T>A	15.37:g.54305275T>A	ENSP00000260323:p.Phe59Ile	178	0		114	38	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	6.157	0.397104	0.11638	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.77098	-1.07;-1.07;-1.07	5.01	0.261	0.15592	.	.	.	.	.	T	0.50803	0.1637	N	0.03608	-0.345	0.21473	N	0.999678	B	0.02656	0.0	B	0.01281	0.0	T	0.37596	-0.9699	9	0.42905	T	0.14	.	4.2231	0.10567	0.1517:0.3368:0.0:0.5115	.	59	Q8NB66	UN13C_HUMAN	I	59	ENSP00000260323:F59I;ENSP00000438156:F59I;ENSP00000442569:F59I	ENSP00000260323:F59I	F	+	1	0	UNC13C	52092567	0.397000	0.25270	0.635000	0.29338	0.042000	0.13812	0.429000	0.21412	0.008000	0.14787	0.533000	0.62120	TTT	.		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54305275	T	A	54305275	3	1	29	1	0	0	0	0	1	0	0	0	17035	1841	64	5	177	5	UNC13C	15	54305275	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	29380793	54305275	48226117	71	4664											
LRRC49	54839	hgsc.bcm.edu	37	15	71341747	71341747	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr15:71341747G>T	ENST00000260382.5	+	16	2117		c.e16-1		LRRC49_ENST00000436542.2_Splice_Site|LRRC49_ENST00000560158.2_Splice_Site|LRRC49_ENST00000544974.2_Splice_Site|LRRC49_ENST00000560691.1_Splice_Site|LRRC49_ENST00000560369.1_Splice_Site|LRRC49_ENST00000443425.2_Splice_Site	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTTTTTAACAGGAAATAAAGG	0.294																																					.		.											LRRC49,NS,carcinoma,0,1	LRRC49	0	1	Unknown(1)	lung(1)	c.1873-1G>T						.						27	30	29					15																	71341747		2170	4288	6458	SO:0001630	splice_region_variant	54839	exon16			TTAACAGGAAATA		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1858-1G>T	15.37:g.71341747G>T		105	0		48	2	NM_001199017	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Splice_Site	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	g	15.99	2.995626	0.54147	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6149	0.76756	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC49	69128801	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.439000	0.73430	2.547000	0.85894	0.655000	0.94253	.	.		0.294	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Intron	T	71341747	G	T	71341747	5	4	29	1	0	0	0	0	0	0	1	0	9041	1014	35	3	1919	3	LRRC49	15	71341747	Splice_Site	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	17036472	71341747	31189645	72	4665											
LOC81691	81691	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	20843488	20843488	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr16:20843488T>C	ENST00000261377.6	+	12	1378	c.1169T>C	c.(1168-1170)cTa>cCa	p.L390P	AC004381.6_ENST00000564274.1_Missense_Mutation_p.L390P|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.L390P	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					ATTGCAGAACTAAATCTAGAA	0.348																																					p.L390P													.	LOC81691	41	0			c.T1169C						.						101	91	94					16																	20843488		2201	4300	6501	SO:0001583	missense	0	exon12			CAGAACTAAATCT																												ENST00000261377.6:c.1169T>C	16.37:g.20843488T>C	ENSP00000261377:p.Leu390Pro	144	0		75	9	NM_030941		Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.416955	0.62511	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.35048	1.33;1.73	4.51	4.51	0.55191	.	0.913552	0.09241	N	0.829146	T	0.50769	0.1635	L	0.55481	1.735	0.53005	D	0.999966	D;B	0.60575	0.988;0.03	P;B	0.60415	0.874;0.03	T	0.29792	-1.0000	10	0.44086	T	0.13	-1.558	10.1422	0.42742	0.0:0.0:0.0:1.0	.	390;390	Q96IC2-2;Q96IC2	.;REXON_HUMAN	P	390	ENSP00000261378:L390P;ENSP00000261377:L390P	ENSP00000261377:L390P	L	+	2	0	AC004381.6	20750989	0.933000	0.31639	0.998000	0.56505	0.894000	0.52154	2.043000	0.41231	1.893000	0.54813	0.454000	0.30748	CTA	.		0.348	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			C	20843488	T	C	20843488	3	2	29	1	0	0	0	0	1	0	0	0	8925	1522	53	4	1211	4	LOC81691	16	20843488	Missense_Mutation	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09		20843488	69511265	73	4666											
CCDC135	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57762447	57762447	+	Missense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr16:57762447A>T	ENST00000360716.3	+	17	2563	c.2342A>T	c.(2341-2343)aAg>aTg	p.K781M	CCDC135_ENST00000394337.4_Missense_Mutation_p.K781M|CCDC135_ENST00000336825.8_Missense_Mutation_p.K716M			Q8IY82	CC135_HUMAN		781					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						AGCGACTTCAAGCAGCGGCTC	0.612																																					p.K781M		.											.	.	.	0			c.A2342T						.						40	39	39					16																	57762447		2195	4297	6492	SO:0001583	missense	84229	exon16			ACTTCAAGCAGCG																												ENST00000360716.3:c.2342A>T	16.37:g.57762447A>T	ENSP00000353942:p.Lys781Met	64	0		27	18	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	a	20.2	3.943590	0.73672	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.55413	0.52;0.52;0.52	5.15	4.04	0.47022	.	0.107337	0.64402	D	0.000009	T	0.73814	0.3635	M	0.86502	2.82	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76599	-0.2900	10	0.87932	D	0	-44.2152	10.987	0.47528	0.8429:0.1571:0.0:0.0	.	716;781	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	781;716;781	ENSP00000377869:K781M;ENSP00000338938:K716M;ENSP00000353942:K781M	ENSP00000338938:K716M	K	+	2	0	CCDC135	56319948	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.799000	0.75160	0.773000	0.33404	0.402000	0.26972	AAG	.		0.612	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			T	57762447	A	T	57762447	3	4	29	1	0	0	0	0	1	0	0	0	2776	72	3	5	2400	5	CCDC135	16	57762447	Missense_Mutation	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09	36918959	57762447	32592306	74	4667											
GUCY2D	3000	hgsc.bcm.edu	37	17	7917239	7917239	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr17:7917239C>A	ENST00000254854.4	+	12	2455	c.2305C>A	c.(2305-2307)Ccc>Acc	p.P769T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				ACTGTGTCGGCCCTTGGTGTC	0.627																																					p.P769T		.											GUCY2D_ENST00000254854,NS,haematopoietic_neoplasm,0,1	GUCY2D_ENST00000254854	0	0			c.C2305A						.						82	83	83					17																	7917239		2203	4300	6503	SO:0001583	missense	3000	exon12			TGTCGGCCCTTGG	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.2305C>A	17.37:g.7917239C>A	ENSP00000254854:p.Pro769Thr	38	0		22	2	NM_000180	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707140	0.89018	.	.	ENSG00000132518	ENST00000254854	D	0.86366	-2.11	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.94771	0.8312	M	0.90650	3.135	0.53688	D	0.99997	D	0.76494	0.999	D	0.75484	0.986	D	0.95258	0.8366	10	0.87932	D	0	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	769	Q02846	GUC2D_HUMAN	T	769	ENSP00000254854:P769T	ENSP00000254854:P769T	P	+	1	0	GUCY2D	7857964	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.244000	0.78228	2.837000	0.97791	0.655000	0.94253	CCC	.		0.627	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			A	7917239	C	A	7917239	3	1	29	1	0	0	0	0	1	0	0	0	6924	739	26	3	2347	3	GUCY2D	17	7917239	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		7917239	73277971	75	4668											
PER1	5187	hgsc.bcm.edu	37	17	8046029	8046029	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr17:8046029C>T	ENST00000317276.4	-	20	3434	c.3197G>A	c.(3196-3198)gGc>gAc	p.G1066D	PER1_ENST00000581082.1_Missense_Mutation_p.G1043D|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1066	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						AGAGCCCAAGCCAGAGCCCAA	0.652			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																													p.G1066D		.		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	PER1,NS,carcinoma,0,1	PER1	0	0			c.G3197A						.						49	58	55					17																	8046029		2203	4300	6503	SO:0001583	missense	5187	exon20			CCCAAGCCAGAGC	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.3197G>A	17.37:g.8046029C>T	ENSP00000314420:p.Gly1066Asp	135	0		68	3	NM_002616	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761003	0.69763	.	.	ENSG00000179094	ENST00000317276	T	0.14144	2.53	4.88	2.8	0.32819	Period circadian-like, C-terminal (1);	0.193384	0.44483	D	0.000451	T	0.17619	0.0423	M	0.66297	2.02	0.80722	D	1	P	0.45672	0.864	P	0.48368	0.575	T	0.02444	-1.1158	10	0.39692	T	0.17	-6.6059	3.6404	0.08165	0.176:0.5645:0.1698:0.0897	.	1066	O15534	PER1_HUMAN	D	1066	ENSP00000314420:G1066D	ENSP00000314420:G1066D	G	-	2	0	PER1	7986754	0.911000	0.30947	0.934000	0.37439	0.925000	0.55904	1.974000	0.40559	0.718000	0.32166	0.591000	0.81541	GGC	.		0.652	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			T	8046029	C	T	8046029	3	4	29	1	0	0	0	0	1	0	0	0	11768	739	26	3	691	3	PER1	17	8046029	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	128790	8046029	73149181	76	4669											
RNF112	7732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	19319066	19319066	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr17:19319066A>G	ENST00000461366.1	+	14	1689	c.1474A>G	c.(1474-1476)Acc>Gcc	p.T492A	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	492						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						CCTGCCAGACACCATGCGGAA	0.597																																					p.T492A		.											.	.	.	0			c.A1474G						.						32	33	33					17																	19319066		2019	4171	6190	SO:0001583	missense	7732	exon14			CCAGACACCATGC	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.1474A>G	17.37:g.19319066A>G	ENSP00000454919:p.Thr492Ala	55	0		27	9	NM_007148	O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	CCDS58529.1																																																																																			.		0.597	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		G	19319066	A	G	19319066	3	3	29	1	0	0	0	0	1	0	0	0	13471	159	6	4	1238	4	RNF112	17	19319066	Missense_Mutation	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09	11273037	19319066	61876144	77	4670											
UTP6	55813	hgsc.bcm.edu;bcgsc.ca	37	17	30192441	30192441	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr17:30192441G>T	ENST00000261708.4	-	18	1717	c.1580C>A	c.(1579-1581)gCg>gAg	p.A527E		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	527					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)				TCTTATGTTCGCCATATTGCA	0.358																																					p.A527E		.											.	.	.	0			c.C1580A						.						105	102	103					17																	30192441		2203	4300	6503	SO:0001583	missense	55813	exon18			ATGTTCGCCATAT	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.1580C>A	17.37:g.30192441G>T	ENSP00000261708:p.Ala527Glu	104	0		61	4	NM_018428	Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	g	1.536	-0.542943	0.04053	.	.	ENSG00000108651	ENST00000261708	T	0.28069	1.63	5.17	-8.29	0.01009	Tetratricopeptide-like helical (1);	1.253210	0.05283	N	0.519758	T	0.09862	0.0242	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29610	-1.0006	10	0.02654	T	1	2.5893	6.592	0.22651	0.5877:0.0:0.1353:0.277	.	527;527	B3KQ21;Q9NYH9	.;UTP6_HUMAN	E	527	ENSP00000261708:A527E	ENSP00000261708:A527E	A	-	2	0	UTP6	27216554	0.000000	0.05858	0.043000	0.18650	0.901000	0.52897	-0.731000	0.04909	-1.759000	0.01313	-0.317000	0.08691	GCG	.		0.358	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		T	30192441	G	T	30192441	3	4	29	1	0	0	0	0	1	0	0	0	17151	1087	38	2	221	2	UTP6	17	30192441	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	10873375	30192441	51002769	78	4671											
KRTAP4-7	100132476	hgsc.bcm.edu	37	17	39240791	39240791	+	Silent	SNP	C	C	T	rs553572799	byFrequency	TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr17:39240791C>T	ENST00000391417.4	+	1	333	c.333C>T	c.(331-333)cgC>cgT	p.R111R		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						cctgctgccgccccagctgct	0.662																																					p.R111R		.											KRTAP4-9_ENST00000377734,NS,carcinoma,0,2	KRTAP4-9_ENST00000377734	0	2	Unknown(1)|Deletion - In frame(1)	NS(2)	c.C333T						.																																			SO:0001819	synonymous_variant	100132476	exon1			CTGCCGCCCCAGC	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.333C>T	17.37:g.39240791C>T		53	1		37	3	NM_033061	A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	CCDS45673.1																																																																																			.		0.662	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			T	39240791	C	T	39240791	2	4	29	1	0	0	0	0	0	0	0	1	8583	726	26	3		3	KRTAP4-7	17	39240791	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	9048350	39240791	41954419	79	4672											
COG1	9382	bcgsc.ca	37	17	71192846	71192846	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr17:71192846G>A	ENST00000299886.4	+	2	596	c.516G>A	c.(514-516)cgG>cgA	p.R172R	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	172					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TCCTCTCCCGGTTTCCTATAC	0.597																																					p.R172R													.	COG1	46	0			c.G516A						.						67	65	66					17																	71192846		2203	4300	6503	SO:0001819	synonymous_variant	9382	exon2			CTCCCGGTTTCCT		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.516G>A	17.37:g.71192846G>A		55	0		18	3	NM_018714	Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	CCDS11692.1																																																																																			.		0.597	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			A	71192846	G	A	71192846	2	1	29	1	0	0	0	0	0	0	0	1	3664	1248	44	3		3	COG1	17	71192846	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	31952055	71192846	10002364	80	4673											
MOCOS	55034	hgsc.bcm.edu	37	18	33831179	33831179	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr18:33831179C>T	ENST00000261326.5	+	11	2118	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G		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						CATTTTTTGGCCGTCCTTGTC	0.348																																					p.G699G		.											.	.	.	0			c.C2097T						.						106	97	100					18																	33831179		2203	4300	6503	SO:0001819	synonymous_variant	55034	exon11			TTTTGGCCGTCCT	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.2097C>T	18.37:g.33831179C>T		141	0		96	4	NM_017947		Silent	SNP	ENST00000261326.5	37	CCDS11919.1																																																																																			.		0.348	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			T	33831179	C	T	33831179	2	4	29	1	0	0	0	0	0	0	0	1	9727	726	26	3		3	MOCOS	18	33831179	Silent	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		33831179	44246069	81	4674											
PHLPP1	23239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	60562326	60562326	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr18:60562326G>C	ENST00000262719.5	+	5	2383	c.2149G>C	c.(2149-2151)Gca>Cca	p.A717P	PHLPP1_ENST00000400316.4_Missense_Mutation_p.A205P			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	717					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						TCCAACCCTGGCAGAGCTGAA	0.493																																					p.A717P		.											.	.	.	0			c.G2149C						.						69	65	66					18																	60562326		1901	4125	6026	SO:0001583	missense	23239	exon5			ACCCTGGCAGAGC	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.2149G>C	18.37:g.60562326G>C	ENSP00000262719:p.Ala717Pro	124	0		38	24	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568095	0.86439	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.57907	0.37;0.37	5.81	1.42	0.22433	.	.	.	.	.	T	0.46658	0.1404	L	0.51422	1.61	0.29022	N	0.886231	P	0.42584	0.784	B	0.42522	0.39	T	0.41142	-0.9525	9	0.52906	T	0.07	-1.0864	7.6353	0.28264	0.6052:0.0:0.3948:0.0	.	717	O60346	PHLP1_HUMAN	P	205;717	ENSP00000383170:A205P;ENSP00000262719:A717P	ENSP00000262719:A717P	A	+	1	0	PHLPP1	58713306	1.000000	0.71417	0.895000	0.35142	0.976000	0.68499	2.872000	0.48467	0.249000	0.21456	0.655000	0.94253	GCA	.		0.493	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		C	60562326	G	C	60562326	3	2	29	1	0	0	0	0	1	0	0	0	11893	1203	42	5	2167	5	PHLPP1	18	60562326	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	26731147	60562326	17514922	82	4675											
ZNF653	115950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	11594920	11594920	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr19:11594920G>C	ENST00000293771.5	-	8	1743	c.1607C>G	c.(1606-1608)tCc>tGc	p.S536C	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	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)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCTCTTGAAGGACTTGCCGCA	0.647																																					p.S536C	Pancreas(83;980 1446 4542 6441 43352)	.											.	.	.	0			c.C1607G						.						47	38	41					19																	11594920		2190	4268	6458	SO:0001583	missense	115950	exon8			TTGAAGGACTTGC	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.1607C>G	19.37:g.11594920G>C	ENSP00000293771:p.Ser536Cys	68	0		45	18	NM_138783	Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402466	0.83230	.	.	ENSG00000161914	ENST00000293771	T	0.19806	2.12	4.58	4.58	0.56647	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	0.43875	0.1267	L	0.60957	1.885	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.42464	-0.9450	10	0.87932	D	0	-33.505	16.5255	0.84330	0.0:0.0:1.0:0.0	.	536	Q96CK0	ZN653_HUMAN	C	536	ENSP00000293771:S536C	ENSP00000293771:S536C	S	-	2	0	ZNF653	11455920	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.539000	0.82063	2.275000	0.75901	0.313000	0.20887	TCC	.		0.647	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		C	11594920	G	C	11594920	3	2	29	1	0	0	0	0	1	0	0	0	18114	1174	41	5	248	5	ZNF653	19	11594920	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		11594920	47534063	83	4676											
BEST2	54831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	12865559	12865559	+	Silent	SNP	G	G	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr19:12865559G>C	ENST00000549706.1	+	4	765	c.441G>C	c.(439-441)gtG>gtC	p.V147V	BEST2_ENST00000553030.1_Silent_p.V147V|BEST2_ENST00000042931.1_Silent_p.V147V			Q8NFU1	BEST2_HUMAN	bestrophin 2	147					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCACCGCGGTGTTCAAGCGCT	0.687																																					p.V147V		.											.	.	.	0			c.G441C						.						20	21	21					19																	12865559		2167	4278	6445	SO:0001819	synonymous_variant	54831	exon3			CGCGGTGTTCAAG	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.441G>C	19.37:g.12865559G>C		66	0		58	21	NM_017682	Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	CCDS42506.1																																																																																			.		0.687	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		C	12865559	G	C	12865559	2	2	29	1	0	0	0	0	0	0	0	1	1406	1364	48	5		5	BEST2	19	12865559	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	1270639	12865559	46263424	84	4677											
MAST3	23031	hgsc.bcm.edu	37	19	18234175	18234175	+	Missense_Mutation	SNP	G	G	A	rs573739665		TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr19:18234175G>A	ENST00000262811.6	+	6	461	c.461G>A	c.(460-462)cGc>cAc	p.R154H	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	154							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGCTCTCGCAGTCTCAGG	0.687													G|||	1	0.000199681	0	0	5008	,	,		15952	0		0.001	False		,,,				2504	0				p.R154H		.											MAST3,NS,carcinoma,0,1	MAST3	0	0			c.G461A						.						15	16	16					19																	18234175		1884	4096	5980	SO:0001583	missense	23031	exon6			GCTCTCGCAGTCT	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.461G>A	19.37:g.18234175G>A	ENSP00000262811:p.Arg154His	24	0		29	2	NM_015016	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446090	0.63178	.	.	ENSG00000099308	ENST00000262811	T	0.47528	0.84	4.69	4.69	0.59074	Microtubule-associated serine/threonine-protein kinase, domain (1);	.	.	.	.	T	0.76104	0.3941	M	0.92412	3.305	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.83144	-0.0107	9	0.72032	D	0.01	-22.6098	16.9486	0.86237	0.0:0.0:1.0:0.0	.	154	O60307	MAST3_HUMAN	H	154	ENSP00000262811:R154H	ENSP00000262811:R154H	R	+	2	0	MAST3	18095175	1.000000	0.71417	0.992000	0.48379	0.021000	0.10359	9.336000	0.96533	2.324000	0.78689	0.484000	0.47621	CGC	.		0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		A	18234175	G	A	18234175	3	1	29	1	0	0	0	0	1	0	0	0	9364	1087	38	1	483	1	MAST3	19	18234175	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	5368616	18234175	40894808	85	4678											
ZNF253	56242	hgsc.bcm.edu	37	19	20002885	20002885	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr19:20002885G>T	ENST00000589717.1	+	4	921	c.829G>T	c.(829-831)Gtt>Ttt	p.V277F	CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.V201F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	277				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						ACATAAGATAGTTCATACTGG	0.398																																					p.V277F		.											ZNF492,NS,carcinoma,0,4	ZNF492	0	0			c.G829T						.						53	57	55					19																	20002885		2170	4281	6451	SO:0001583	missense	56242	exon4			AAGATAGTTCATA	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.829G>T	19.37:g.20002885G>T	ENSP00000468720:p.Val277Phe	64	0		45	2	NM_021047	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	8.839	0.941752	0.18281	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39091	0.1065	M	0.65498	2.005	0.24401	N	0.994705	B	0.19583	0.037	B	0.18263	0.021	T	0.30937	-0.9961	7	.	.	.	.	4.7478	0.13045	0.463:0.0:0.537:0.0	.	277	O75346	ZN253_HUMAN	F	277	.	.	V	+	1	0	ZNF253	19863885	0.000000	0.05858	0.190000	0.23270	0.190000	0.23558	-0.026000	0.12392	-0.722000	0.04922	-0.708000	0.03648	GTT	.		0.398	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		T	20002885	G	T	20002885	3	4	29	1	0	0	0	0	1	0	0	0	17845	1029	36	3	843	3	ZNF253	19	20002885	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	1768710	20002885	39126098	86	4679											
ZNF345	25850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	37367894	37367894	+	Missense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr19:37367894A>T	ENST00000529555.1	+	2	950	c.162A>T	c.(160-162)agA>agT	p.R54S	ZNF345_ENST00000589046.1_Missense_Mutation_p.R54S|ZNF345_ENST00000420450.1_Missense_Mutation_p.R54S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	54					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)			AGCATCAGAGAATTCATACTG	0.393																																					p.R54S		.											.	.	.	0			c.A162T						.						112	116	115					19																	37367894		2203	4300	6503	SO:0001583	missense	25850	exon4			TCAGAGAATTCAT	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.162A>T	19.37:g.37367894A>T	ENSP00000431202:p.Arg54Ser	105	0		73	25	NM_001242476		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	8.795	0.931410	0.18131	.	.	ENSG00000251247	ENST00000532141;ENST00000420450;ENST00000529555;ENST00000331800	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.37	2.13	0.27403	.	.	.	.	.	T	0.17152	0.0412	L	0.38953	1.18	0.21627	N	0.999611	B	0.22909	0.077	B	0.23574	0.047	T	0.32025	-0.9922	9	0.52906	T	0.07	.	1.3769	0.02222	0.5318:0.1882:0.0991:0.1808	.	54	Q14585	ZN345_HUMAN	S	54	ENSP00000431289:R54S;ENSP00000431216:R54S;ENSP00000431202:R54S;ENSP00000331120:R54S	ENSP00000331120:R54S	R	+	3	2	ZNF345	42059734	0.000000	0.05858	0.818000	0.32626	0.987000	0.75469	-0.295000	0.08298	0.237000	0.21200	0.533000	0.62120	AGA	.		0.393	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			T	37367894	A	T	37367894	3	4	29	1	0	0	0	0	1	0	0	0	17907	243	9	5	164	5	ZNF345	19	37367894	Missense_Mutation	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09	17365009	37367894	21761089	87	4680											
ATP1A3	478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	42489123	42489123	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr19:42489123G>C	ENST00000302102.5	-	8	1090	c.940C>G	c.(940-942)Ctc>Gtc	p.L314V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.L325V|ATP1A3_ENST00000545399.1_Missense_Mutation_p.L327V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.L284V	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	314					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						ATGCCGATGAGGAAGATGACA	0.602																																					p.L327V		.											.	.	.	0			c.C979G						.						115	87	96					19																	42489123		2203	4300	6503	SO:0001583	missense	478	exon8			CGATGAGGAAGAT		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.940C>G	19.37:g.42489123G>C	ENSP00000302397:p.Leu314Val	61	0		33	10	NM_001256214	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293342	0.80914	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	4.47	4.47	0.54385	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	L	0.55743	1.74	0.80722	D	1	P;D;D;D	0.76494	0.469;0.999;0.999;0.999	B;D;D;D	0.91635	0.324;0.998;0.999;0.999	D	0.94161	0.7414	10	0.66056	D	0.02	.	15.0147	0.71576	0.0:0.0:1.0:0.0	.	327;325;314;314	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	V	314;314;327;284;58;325	ENSP00000302397:L314V;ENSP00000411503:L314V;ENSP00000444688:L327V;ENSP00000437577:L325V	ENSP00000302397:L314V	L	-	1	0	ATP1A3	47180963	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.643000	0.98464	2.230000	0.72887	0.491000	0.48974	CTC	.		0.602	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		C	42489123	G	C	42489123	3	2	29	1	0	0	0	0	1	0	0	0	1131	1000	35	5	2165	5	ATP1A3	19	42489123	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	5121229	42489123	16639860	88	4681											
SIGLEC10	89790	hgsc.bcm.edu;broad.mit.edu	37	19	51918507	51918507	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr19:51918507C>T	ENST00000339313.5	-	7	1374	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E272K|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E420K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E337K|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E362K|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.E420K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E330K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E372K|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E362K			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	420	Ig-like C2-type 3.				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)		AACTCTCCTTCGTGCTCCACT	0.667																																					p.E420K		.											SIGLEC12_ENST00000439889,NS,malignant_melanoma,0,2	SIGLEC12_ENST00000439889	0	0			c.G1258A						.						64	59	61					19																	51918507		2203	4300	6503	SO:0001583	missense	89790	exon7			CTCCTTCGTGCTC	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.1258G>A	19.37:g.51918507C>T	ENSP00000345243:p.Glu420Lys	110	1		71	5	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794757	0.31777	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	4.71	3.66	0.41972	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.568449	0.16991	N	0.191294	T	0.28764	0.0713	M	0.80616	2.505	0.27787	N	0.942959	D;P;P;D;P;D;D;P	0.65815	0.977;0.852;0.781;0.995;0.741;0.965;0.984;0.899	P;P;P;P;B;P;P;B	0.52710	0.647;0.538;0.529;0.707;0.394;0.49;0.68;0.347	T	0.11251	-1.0595	10	0.52906	T	0.07	.	10.8635	0.46839	0.0:0.8083:0.1917:0.0	.	372;330;420;272;420;362;362;420	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	K	420;337;272;420;362;330;362;372;420	ENSP00000342389:E420K;ENSP00000396742:E337K;ENSP00000395475:E272K;ENSP00000348646:E420K;ENSP00000408387:E362K;ENSP00000431444:E330K;ENSP00000389132:E362K;ENSP00000414324:E372K;ENSP00000345243:E420K	ENSP00000345243:E420K	E	-	1	0	SIGLEC10	56610319	0.011000	0.17503	0.334000	0.25495	0.080000	0.17528	0.487000	0.22356	0.966000	0.38159	0.462000	0.41574	GAA	.		0.667	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		T	51918507	C	T	51918507	3	4	29	1	0	0	0	0	1	0	0	0	14351	893	31	1	855	1	SIGLEC10	19	51918507	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	9429384	51918507	7210476	89	4682											
SNPH	9751	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	1277062	1277062	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr20:1277062G>T	ENST00000381873.3	+	3	283	c.47G>T	c.(46-48)cGc>cTc	p.R16L	RAD21L1_ENST00000402452.1_3'UTR|SNPH_ENST00000381867.1_Missense_Mutation_p.R60L	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	16					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						GCTGGATCACGCAGGTGAGTC	0.637																																					p.R16L		.											.	.	.	0			c.G47T						.						72	59	63					20																	1277062		2203	4300	6503	SO:0001583	missense	9751	exon3			GATCACGCAGGTG		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.47G>T	20.37:g.1277062G>T	ENSP00000371297:p.Arg16Leu	111	0		79	7	NM_014723	Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180178	0.78564	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000011	T	0.61689	0.2367	L	0.40543	1.245	0.33121	D	0.541796	D;D	0.67145	0.996;0.996	P;P	0.62885	0.908;0.908	T	0.72323	-0.4328	9	0.72032	D	0.01	-22.2865	15.446	0.75232	0.0:0.0:1.0:0.0	.	60;16	O15079-2;O15079	.;SNPH_HUMAN	L	16;60	.	ENSP00000371291:R60L	R	+	2	0	SNPH	1225062	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	5.126000	0.64721	2.363000	0.80096	0.561000	0.74099	CGC	.		0.637	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		T	1277062	G	T	1277062	3	4	29	1	0	0	0	0	1	0	0	0	14895	1087	38	2	49	2	SNPH	20	1277062	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09		1277062	61748458	90	4683											
RPRD1B	58490	hgsc.bcm.edu	37	20	36687879	36687879	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr20:36687879G>T	ENST00000373433.4	+	5	1014	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	204					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)	p.Q206fs*19(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGCTTCTCTGCCCCAGGAAG	0.443																																					p.L204L		.											.,1	.	25	1	Insertion - Frameshift(1)	large_intestine(1)	c.G612T						.						111	100	104					20																	36687879		2203	4300	6503	SO:0001819	synonymous_variant	58490	exon5			TTCTCTGCCCCAG	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.612G>T	20.37:g.36687879G>T		88	0		47	2	NM_021215	Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	37	CCDS13301.1																																																																																			.		0.443	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		T	36687879	G	T	36687879	2	4	29	1	0	0	0	0	0	0	0	1	13661	1306	46	3		3	RPRD1B	20	36687879	Silent	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	35410817	36687879	26337641	91	4684											
SLPI	6590	hgsc.bcm.edu	37	20	43882219	43882219	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr20:43882219G>T	ENST00000338380.2	-	2	261	c.241C>A	c.(241-243)Cca>Aca	p.P81T		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	81	Trypsin inhibitory domain.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P81T(1)		lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TGCTTACTTGGGTTTGGGGTG	0.557																																					p.P81T	GBM(64;162 1089 31780 33427 34538)	.											SLPI,NS,carcinoma,0,1	SLPI	0	1	Substitution - Missense(1)	lung(1)	c.C241A						.						86	70	75					20																	43882219		2203	4300	6503	SO:0001583	missense	6590	exon2			TACTTGGGTTTGG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"WAP four-disulfide core domain containing"	11092	protein-coding gene	gene with protein product	"antileukoproteinase"	107285	"secretory leukocyte protease inhibitor (antileukoproteinase)"			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.241C>A	20.37:g.43882219G>T	ENSP00000342082:p.Pro81Thr	59	0		43	2	NM_003064	B2R5H8|P07757	Missense_Mutation	SNP	ENST00000338380.2	37	CCDS13347.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651358	0.29336	.	.	ENSG00000124107	ENST00000338380	T	0.21734	1.99	5.05	-0.622	0.11560	.	0.758631	0.10826	N	0.629845	T	0.31295	0.0792	M	0.91249	3.19	0.09310	N	1	B	0.27853	0.191	B	0.29267	0.1	T	0.38222	-0.9671	10	0.72032	D	0.01	.	7.6203	0.28181	0.5135:0.0:0.4865:0.0	.	81	P03973	SLPI_HUMAN	T	81	ENSP00000342082:P81T	ENSP00000342082:P81T	P	-	1	0	SLPI	43315633	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	-0.545000	0.06069	-0.033000	0.13736	-0.367000	0.07326	CCA	.		0.557	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			T	43882219	G	T	43882219	3	4	29	1	0	0	0	0	1	0	0	0	14798	1232	43	3	169	3	SLPI	20	43882219	Missense_Mutation	SNP	G	TCGA-ZH-A8Y1-01A-11D-A417-09	7194340	43882219	19143301	92	4685											
UFD1L	7353	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	19455397	19455397	+	Splice_Site	SNP	C	C	T			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chr22:19455397C>T	ENST00000263202.10	-	5	550	c.421G>A	c.(421-423)Gta>Ata	p.V141I	UFD1L_ENST00000399523.1_Splice_Site_p.V141I|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Splice_Site_p.V130I	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	141					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					AAAAGATACACGGCTTTGGGG	0.502																																					p.V141I													.	UFD1L	25	0			c.G421A						.						123	124	123					22																	19455397		2203	4300	6503	SO:0001630	splice_region_variant	7353	exon5			GATACACGGCTTT	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"ubiquitin fusion degradation 1-like"			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.422+1G>A	22.37:g.19455397C>T		100	0		61	21	NM_001035247	A8MW31|Q9Y5N0	Splice_Site	SNP	ENST00000263202.10	37	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	C	36	5.783191	0.96937	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.67	4.67	0.58626	.	0.053759	0.64402	D	0.000001	T	0.67813	0.2933	M	0.70903	2.155	0.80722	D	1	D;D;D	0.69078	0.985;0.971;0.997	D;D;D	0.72075	0.945;0.945;0.976	T	0.68481	-0.5397	10	0.45353	T	0.12	.	18.1188	0.89565	0.0:1.0:0.0:0.0	.	141;141;141	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	I	141;130;141;177;45;130	ENSP00000263202:V141I;ENSP00000354079:V130I;ENSP00000382439:V141I;ENSP00000402136:V45I;ENSP00000406680:V130I	ENSP00000263202:V141I	V	-	1	0	UFD1L	17835397	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.302000	0.78861	2.582000	0.87167	0.555000	0.69702	GTA	.		0.502	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		Missense_Mutation	T	19455397	C	T	19455397	5	4	29	1	0	0	0	0	0	0	1	0	16984	550	19	1	534	1	UFD1L	22	19455397	Splice_Site	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09		19455397	31849169	93	4686											
MAGED1	9500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	51639969	51639969	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chrX:51639969A>G	ENST00000375722.1	+	4	1470	c.1218A>G	c.(1216-1218)ctA>ctG	p.L406L	MAGED1_ENST00000326587.7_Silent_p.L406L|MAGED1_ENST00000375772.3_Silent_p.L406L|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Silent_p.L462L			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	406	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|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 branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ACTGGCCGCTACCACCCGACT	0.637										Multiple Myeloma(10;0.10)																											p.L462L		.											.	.	.	0			c.A1386G						.						29	19	22					X																	51639969		2199	4293	6492	SO:0001819	synonymous_variant	9500	exon5			GCCGCTACCACCC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1218A>G	X.37:g.51639969A>G		85	0		60	20	NM_001005333	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																			.		0.637	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		G	51639969	A	G	51639969	2	3	29	1	0	0	0	0	0	0	0	1	9221	378	14	4		4	MAGED1	23	51639969	Silent	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09		51639969	103630591	94	4687											
MSN	4478	ucsc.edu;bcgsc.ca	37	X	64949502	64949502	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chrX:64949502C>A	ENST00000360270.5	+	4	567	c.395C>A	c.(394-396)tCt>tAt	p.S132Y		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	132	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						GCTGTCCAGTCTAAGTATGGC	0.542			T	ALK	ALCL																																p.S132Y				Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	MSN	89	0			c.C395A						.						81	58	66					X																	64949502		2203	4300	6503	SO:0001583	missense	4478	exon4			TCCAGTCTAAGTA	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.395C>A	X.37:g.64949502C>A	ENSP00000353408:p.Ser132Tyr	67	0		28	4	NM_002444		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854168	0.91355	.	.	ENSG00000147065	ENST00000360270	T	0.77750	-1.12	5.85	5.85	0.93711	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.166863	0.56097	D	0.000034	D	0.87002	0.6069	M	0.86268	2.805	0.80722	D	1	D	0.56968	0.978	P	0.54590	0.756	D	0.89051	0.3455	10	0.87932	D	0	.	17.5998	0.88023	0.0:1.0:0.0:0.0	.	132	P26038	MOES_HUMAN	Y	132	ENSP00000353408:S132Y	ENSP00000353408:S132Y	S	+	2	0	MSN	64866227	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.734000	0.84928	2.484000	0.83849	0.529000	0.55759	TCT	.		0.542	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		A	64949502	C	A	64949502	3	1	29	1	0	0	0	0	1	0	0	0	9923	913	32	3	409	3	MSN	23	64949502	Missense_Mutation	SNP	C	TCGA-ZH-A8Y1-01A-11D-A417-09	13309533	64949502	90321058	95	4688											
HDX	139324	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	83723901	83723901	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chrX:83723901A>C	ENST00000297977.5	-	3	941	c.830T>G	c.(829-831)aTt>aGt	p.I277S	HDX_ENST00000506585.2_Missense_Mutation_p.I219S|HDX_ENST00000373177.2_Missense_Mutation_p.I277S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	277						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						TCCTCCCAGAATTCTCTGGGG	0.458																																					p.I277S	Pancreas(53;231 1169 36156 43751 51139)	.											.	.	.	0			c.T830G						.						95	90	92					X																	83723901		2203	4300	6503	SO:0001583	missense	139324	exon3			CCCAGAATTCTCT	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.830T>G	X.37:g.83723901A>C	ENSP00000297977:p.Ile277Ser	105	0		62	5	NM_144657	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117602	0.37339	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35048	1.36;1.33;1.36	5.45	5.45	0.79879	.	0.197053	0.43919	D	0.000513	T	0.34687	0.0906	L	0.58101	1.795	0.37809	D	0.927982	P	0.35433	0.501	B	0.35470	0.203	T	0.42965	-0.9420	10	0.66056	D	0.02	-25.5735	9.3357	0.38049	0.9188:0.0:0.0812:0.0	.	277	Q7Z353	HDX_HUMAN	S	277;219;277	ENSP00000297977:I277S;ENSP00000362272:I219S;ENSP00000423670:I277S	ENSP00000297977:I277S	I	-	2	0	HDX	83610557	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.964000	0.56780	1.930000	0.55929	0.417000	0.27973	ATT	.		0.458	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83723901	A	C	83723901	3	2	29	1	0	0	0	0	1	0	0	0	7053	101	4	4	1274	4	HDX	23	83723901	Missense_Mutation	SNP	A	TCGA-ZH-A8Y1-01A-11D-A417-09	18774399	83723901	71546659	96	4689											
RBMX	27316	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	135956307	135956307	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y1-01A-11D-A417-09	TCGA-ZH-A8Y1-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	b4732670-b6da-4653-a356-486d91842583	c8778726-9a87-4c5a-beb9-607a1fdee593	g.chrX:135956307T>C	ENST00000320676.7	-	9	1324	c.1170A>G	c.(1168-1170)agA>agG	p.R390R	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000570135.1_Silent_p.R255R|RBMX_ENST00000565438.1_Silent_p.R262R	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	390	Necessary for RNA-binding.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R390S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTTTCTAGTATCTGCTTCTGC	0.463																																					p.R390R		.											.	.	.	1	Substitution - Missense(1)	endometrium(1)	c.A1170G						.						40	41	41					X																	135956307		2177	4214	6391	SO:0001819	synonymous_variant	27316	exon9			CTAGTATCTGCTT		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.1170A>G	X.37:g.135956307T>C		171	0		104	31	NM_002139	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	CCDS14661.1																																																																																			.		0.463	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		C	135956307	T	C	135956307	2	2	29	1	0	0	0	0	0	0	0	1	13196	1432	50	4		4	RBMX	23	135956307	Silent	SNP	T	TCGA-ZH-A8Y1-01A-11D-A417-09	52232406	135956307	19314253	97	4690											
CAMTA1	23261	broad.mit.edu	37	1	7811427	7811427	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:7811427G>A	ENST00000303635.7	+	20	5065	c.4858G>A	c.(4858-4860)Gct>Act	p.A1620T	CAMTA1_ENST00000476864.1_Missense_Mutation_p.A184T|CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1606T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1620	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		TCGCCGGACGGCTGTGATTGT	0.488			T	WWTR1	epitheliod hemangioendothelioma																																p.A1620T				Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1	226	0			c.G4858A						.						62	70	67					1																	7811427		2203	4300	6503	SO:0001583	missense	23261	exon20			CGGACGGCTGTGA	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.4858G>A	1.37:g.7811427G>A	ENSP00000306522:p.Ala1620Thr	44	0		28	3	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478180	0.44044	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.74632	-0.86;-0.86;-0.86	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	L	0.34521	1.04	0.80722	D	1	D;B;B	0.69078	0.997;0.402;0.337	D;B;B	0.77004	0.989;0.168;0.437	T	0.81324	-0.0984	10	0.51188	T	0.08	-11.2626	19.9857	0.97347	0.0:0.0:1.0:0.0	.	663;583;1620	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	T	1620;1606;663;583;184	ENSP00000306522:A1620T;ENSP00000402561:A1606T;ENSP00000452319:A184T	ENSP00000306522:A1620T	A	+	1	0	CAMTA1	7734014	1.000000	0.71417	0.149000	0.22428	0.363000	0.29612	5.470000	0.66756	2.706000	0.92434	0.655000	0.94253	GCT	.		0.488	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7811427	G	A	7811427	3	1	30	1	0	0	0	0	1	0	0	0	2620	1203	42	3	4936	3	CAMTA1	1	7811427	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		7811427	241439194	1	4691											
PER3	8863	bcgsc.ca	37	1	7890026	7890026	+	Missense_Mutation	SNP	A	A	G	rs199947375|rs57875989		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:7890026A>G	ENST00000361923.2	+	18	3167	c.2992A>G	c.(2992-2994)Aag>Gag	p.K998E	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.K1007E	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													PER3,NS,carcinoma,0,4	PER3	95	1	Substitution - Missense(1)	central_nervous_system(1)	c.A2992G						.						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	48	0		25	6	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	.		0.587	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7890026	A	G	7890026	3	3	30	1	0	0	0	0	1	0	0	0	11770	247	9	4	3062	4	PER3	1	7890026	Missense_Mutation	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	78599	7890026	241360595	2	4692											
PTCHD2	57540	hgsc.bcm.edu	37	1	11596598	11596598	+	Missense_Mutation	SNP	C	C	T	rs201820638		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:11596598C>T	ENST00000294484.6	+	21	4172	c.4034C>T	c.(4033-4035)gCg>gTg	p.A1345V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1345V|PTCHD2_ENST00000304391.6_Silent_p.G231G	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1345					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)		GGCATCATGGCGCCCAGCTCT	0.652																																					p.A1345V		.											PTCHD2,NS,carcinoma,0,1	PTCHD2	0	0			c.C4034T						.	C	VAL/ALA	0,4382		0,0,2191	65	68	67		4034	3	0.9	1		67	1,8563	1.2+/-3.3	0,1,4281	no	missense	PTCHD2	NM_020780.1	64	0,1,6472	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	1345/1393	11596598	1,12945	2191	4282	6473	SO:0001583	missense	57540	exon21			TCATGGCGCCCAG	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.4034C>T	1.37:g.11596598C>T	ENSP00000294484:p.Ala1345Val	22	0		19	2	NM_020780	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358065	0.82243	0.0	1.17E-4	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90324	-2.65;-2.64	5.02	3.0	0.34707	Membrane transport protein, MMPL type (1);	0.238909	0.32935	N	0.005463	D	0.91287	0.7253	L	0.36672	1.1	0.35767	D	0.820609	D	0.76494	0.999	P	0.62089	0.898	D	0.93871	0.7162	10	0.87932	D	0	-13.4323	13.7593	0.62956	0.0:0.4314:0.5686:0.0	.	1345	Q9P2K9	PTHD2_HUMAN	V	1345	ENSP00000294484:A1345V;ENSP00000374226:A1345V	ENSP00000294484:A1345V	A	+	2	0	PTCHD2	11519185	0.996000	0.38824	0.859000	0.33776	0.989000	0.77384	2.715000	0.47210	1.091000	0.41335	-0.311000	0.09066	GCG	0.001		0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11596598	C	T	11596598	3	4	30	1	0	0	0	0	1	0	0	0	12775	768	27	1	4112	1	PTCHD2	1	11596598	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	3706572	11596598	237654023	3	4693											
PRAMEF14	729528	bcgsc.ca	37	1	13669138	13669138	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:13669138A>G	ENST00000344998.3	-	4	1230	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	PRAMEF14_ENST00000334600.6_Silent_p.L398L|PRAMEF14_ENST00000602491.1_5'UTR			Q5SWL7	PRA14_HUMAN	PRAME family member 14	350					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)					large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	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)		GTGTGGCACAACAGGTCCTTC	0.547																																					p.L350L													.	PRAMEF14	9	0			c.T1048C						.						106	121	116					1																	13669138		2152	4287	6439	SO:0001819	synonymous_variant	729528	exon4			GGCACAACAGGTC			1p36.21	2014-04-01			ENSG00000204481	ENSG00000204481		"-"	13576	other	unknown							Standard	NM_001024661		Approved	OTTHUMG00000007916		Q5SWL7	OTTHUMG00000007916	ENST00000344998.3:c.1048T>C	1.37:g.13669138A>G		70	3		13	4	NM_001099854		Silent	SNP	ENST00000344998.3	37																																																																																				A|0.500;G|0.500		0.547	PRAMEF14-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001099854		G	13669138	A	G	13669138	2	3	30	1	0	0	0	0	0	0	0	1	12472	40	2	4		4	PRAMEF14	1	13669138	Silent	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	2072540	13669138	235581483	4	4694											
MACF1	23499	hgsc.bcm.edu	37	1	39903515	39903515	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:39903515C>T	ENST00000372915.3	+	70	17839	c.17752C>T	c.(17752-17754)Cca>Tca	p.P5918S	MACF1_ENST00000564288.1_Missense_Mutation_p.P6019S|MACF1_ENST00000539005.1_Missense_Mutation_p.P3830S|MACF1_ENST00000289893.4_Missense_Mutation_p.P4462S|MACF1_ENST00000317713.7_Missense_Mutation_p.P3960S|MACF1_ENST00000545844.1_Missense_Mutation_p.P3960S|MACF1_ENST00000567887.1_Missense_Mutation_p.P6056S|MACF1_ENST00000361689.2_Missense_Mutation_p.P3960S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5918					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)			GCGTATGCCACCACTGATCCC	0.453																																					p.P3960S		.											.	.	.	0			c.C11878T						.						184	168	173					1																	39903515		2203	4300	6503	SO:0001583	missense	23499	exon68			ATGCCACCACTGA	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.17752C>T	1.37:g.39903515C>T	ENSP00000362006:p.Pro5918Ser	42	0		59	4	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.996835|4.996835	0.93167|0.93167	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.48522|.	0.81;0.81;0.81;0.81;0.81;0.81|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.74015|0.74015	0.3661|0.3661	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.71368|0.71368	-0.4614|-0.4614	10|5	0.87932|.	D|.	0|.	.|.	19.497|19.497	0.95077|0.95077	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	5918;3960|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	S|I	3960;5918;3960;3960;3830;4462|2963	ENSP00000439537:P3960S;ENSP00000362006:P5918S;ENSP00000354573:P3960S;ENSP00000313438:P3960S;ENSP00000444364:P3830S;ENSP00000289893:P4462S|.	ENSP00000289893:P4462S|.	P|T	+|+	1|2	0|0	MACF1|MACF1	39676102|39676102	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.989000|0.989000	0.77384|0.77384	7.776000|7.776000	0.85560|0.85560	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	CCA|ACC	.		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39903515	C	T	39903515	3	4	30	1	0	0	0	0	1	0	0	0	9180	507	18	3	18295	3	MACF1	1	39903515	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	26234377	39903515	209347106	5	4695											
ST3GAL3	6487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	44290442	44290442	+	Intron	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:44290442C>T	ENST00000361392.4	+	4	386				ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000262915.3_Silent_p.D98D|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000372368.2_Silent_p.D83D|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.D83D|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000361746.4_Silent_p.D98D|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.D67D|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000372372.2_Silent_p.D67D|ST3GAL3_ENST00000461375.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3						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)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ttggccttgactgcatattgg	0.468																																					p.D98D		.											.	.	.	0			c.C294T						.						78	80	79					1																	44290442		2203	4300	6503	SO:0001627	intron_variant	6487	exon5			CCTTGACTGCATA	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.209+9837C>T	1.37:g.44290442C>T		83	0		99	18	NM_174963	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																			.		0.468	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		T	44290442	C	T	44290442	1	4	30	0	1	0	0	0	0	0	0	0	15263	564	20	3		3	ST3GAL3	1	44290442	Intron	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	4386927	44290442	204960179	6	4696											
PRKAA2	5563	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	57140104	57140107	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	AGAC	AGAC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:57140104_57140107delAGAC	ENST00000371244.4	+	2	211_214	c.145_148delAGAC	c.(145-150)agacagfs	p.RQ49fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[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)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AATCTTAAATAGACAGAAGATTCG	0.284																																					p.48_49del		.											.	.	.	0			c.144_147del						.																																			SO:0001589	frameshift_variant	5563	exon2			TTAAATAGACAGA	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.145_148delAGAC	1.37:g.57140104_57140107delAGAC	ENSP00000360290:p.Arg49fs	173	0		273	40	NM_006252	Q9H1E8|Q9UD43	Frame_Shift_Del	DEL	ENST00000371244.4	37	CCDS605.1																																																																																			.		0.284	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		-	57140107	AGAC	-	57140104	7	5	30	1	0	1	0	1	0	0	0	0	12536	412	15	0	151	0	PRKAA2	1	57140104	Frame_Shift_Del	DEL	AGAC	TCGA-ZH-A8Y2-01A-11D-A417-09	12849662	57140104	192110517	7	4697											
IL12RB2	3595	hgsc.bcm.edu	37	1	67787288	67787288	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:67787288C>A	ENST00000262345.1	+	3	720	c.80C>A	c.(79-81)gCg>gAg	p.A27E	IL12RB2_ENST00000544434.1_Missense_Mutation_p.A27E|IL12RB2_ENST00000371000.1_Missense_Mutation_p.A27E|IL12RB2_ENST00000541374.1_Missense_Mutation_p.A27E	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	27					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)	p.A27G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATTGCAGATGCGTGCAAGAGA	0.378																																					p.A27E		.											IL12RB2,NS,carcinoma,0,1	IL12RB2	0	1	Substitution - Missense(1)	lung(1)	c.C80A						.						105	96	99					1																	67787288		2203	4300	6503	SO:0001583	missense	3595	exon3			CAGATGCGTGCAA	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.80C>A	1.37:g.67787288C>A	ENSP00000262345:p.Ala27Glu	40	0		67	3	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	5.262	0.233850	0.09969	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.56	1.84	0.25277	Immunoglobulin C2-set-like, ligand-binding (1);	0.436821	0.25860	N	0.027824	T	0.27967	0.0689	N	0.19112	0.55	0.19775	N	0.99996	B;B;B;B	0.09022	0.002;0.0;0.001;0.0	B;B;B;B	0.13407	0.009;0.003;0.008;0.005	T	0.34104	-0.9842	10	0.02654	T	1	-3.9302	3.8963	0.09141	0.1587:0.1723:0.0:0.669	.	27;27;27;27	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	E	27	ENSP00000262345:A27E;ENSP00000360039:A27E;ENSP00000445276:A27E;ENSP00000442443:A27E	ENSP00000262345:A27E	A	+	2	0	IL12RB2	67559876	0.138000	0.22547	0.998000	0.56505	0.009000	0.06853	0.049000	0.14099	0.068000	0.16574	-1.878000	0.00547	GCG	.		0.378	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		A	67787288	C	A	67787288	3	1	30	1	0	0	0	0	1	0	0	0	7654	768	27	2	86	2	IL12RB2	1	67787288	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	10647184	67787288	181463333	8	4698											
SH3GLB1	51100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	87200770	87200770	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:87200770C>G	ENST00000370558.4	+	7	993	c.669C>G	c.(667-669)caC>caG	p.H223Q	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.H123Q|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.H244Q	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	223	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGGCCCATCACCTTCGCTGTC	0.418																																					p.H252Q		.											.	.	.	0			c.C756G						.						123	116	119					1																	87200770		2203	4300	6503	SO:0001583	missense	51100	exon8			CCATCACCTTCGC	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.669C>G	1.37:g.87200770C>G	ENSP00000473267:p.His223Gln	72	0		89	15	NM_001206651	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927602	0.52759	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.62639	0.01;0.01	5.53	-0.605	0.11623	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.41961	1.31	0.54753	D	0.999986	D;D;P	0.89917	1.0;1.0;0.566	D;D;P	0.87578	0.998;0.997;0.531	T	0.57289	-0.7837	10	0.06625	T	0.88	-0.8289	11.5201	0.50546	0.0:0.4349:0.0:0.5651	.	123;244;223	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	Q	223;123;244	ENSP00000441355:H123Q;ENSP00000418744:H244Q	ENSP00000212369:H223Q	H	+	3	2	SH3GLB1	86973358	0.995000	0.38212	0.996000	0.52242	0.983000	0.72400	0.455000	0.21843	-0.118000	0.11851	-0.137000	0.14449	CAC	.		0.418	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		G	87200770	C	G	87200770	3	3	30	1	0	0	0	0	1	0	0	0	14298	506	18	5	695	5	SH3GLB1	1	87200770	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	19413482	87200770	162049851	9	4699											
POLR3C	10623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	145601830	145601830	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:145601830T>C	ENST00000334163.3	-	6	861	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.Y234C	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	234				KRPKYTTDNKEPIPDDGIYWQA -> RDQNILQITRXPFQM MGFIGRP (in Ref. 1; AAB63675). {ECO:0000305}.	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)			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)			GGCCTGCCAATAAATCCCATC	0.453																																					p.Y234C		.											.	.	.	0			c.A701G						.						131	125	127					1																	145601830		2203	4300	6503	SO:0001583	missense	10623	exon6			TGCCAATAAATCC	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.701A>G	1.37:g.145601830T>C	ENSP00000334564:p.Tyr234Cys	41	0		51	22	NM_006468	O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981118	0.53827	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.47177	0.85;0.85	5.66	5.66	0.87406	RNA polymerase III Rpc82, C -terminal (1);	0.115873	0.64402	D	0.000011	T	0.34513	0.0900	M	0.64404	1.975	0.58432	D	0.999995	P;B;B	0.46859	0.885;0.371;0.421	B;B;B	0.41271	0.352;0.151;0.233	T	0.30179	-0.9987	10	0.42905	T	0.14	-11.8978	13.8445	0.63459	0.0:0.0:0.0:1.0	.	234;234;234	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	C	234	ENSP00000334564:Y234C;ENSP00000358300:Y234C	ENSP00000334564:Y234C	Y	-	2	0	POLR3C	144313187	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.466000	0.60148	2.148000	0.66965	0.379000	0.24179	TAT	.		0.453	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		C	145601830	T	C	145601830	3	2	30	1	0	0	0	0	1	0	0	0	12269	1406	49	4	943	4	POLR3C	1	145601830	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	58401060	145601830	103648791	10	4700											
TCHH	7062	hgsc.bcm.edu	37	1	152082449	152082449	+	Missense_Mutation	SNP	T	T	C	rs199978971		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:152082449T>C	ENST00000368804.1	-	2	3243	c.3244A>G	c.(3244-3246)Aag>Gag	p.K1082E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1082	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.K1082E(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)			tcctcttccttccgatattgc	0.607																																					p.K1082E		.											TCHH,NS,carcinoma,0,1	TCHH	0	1	Substitution - Missense(1)	endometrium(1)	c.A3244G						.						102	106	105					1																	152082449		1986	4156	6142	SO:0001583	missense	7062	exon3			CTTCCTTCCGATA	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.3244A>G	1.37:g.152082449T>C	ENSP00000357794:p.Lys1082Glu	35	1		67	3	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	6.939	0.543097	0.13250	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	2.92	-0.391	0.12446	.	.	.	.	.	T	0.00412	0.0013	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44221	-0.9342	9	0.02654	T	1	-0.0583	2.25	0.04041	0.1808:0.3455:0.3555:0.1182	.	1082	Q07283	TRHY_HUMAN	E	1082	ENSP00000357794:K1082E	ENSP00000357794:K1082E	K	-	1	0	TCHH	150349073	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.878000	0.00716	-0.354000	0.08212	-0.413000	0.06143	AAG	.		0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152082449	T	C	152082449	3	2	30	1	0	0	0	0	1	0	0	0	15747	1792	62	4	2591	4	TCHH	1	152082449	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	6480619	152082449	97168172	11	4701											
FLG	2312	hgsc.bcm.edu	37	1	152279697	152279698	+	Missense_Mutation	DNP	CT	CT	TG			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	CT	CT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:152279697_152279698CT>TG	ENST00000368799.1	-	3	7699_7700	c.7664_7665AG>CA	c.(7663-7665)gAG>gCA	p.E2555A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2555	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)			TCCTGGGCCCCTCTGATTGTCC	0.599									Ichthyosis																												p.E2555A		.											FLG,caecum,carcinoma,0,1	FLG	0	0			c.A7664C						.																																			SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGCCCCTCTGATT	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.7664_7665delinsTG	1.37:g.152279697_152279698delinsTG	ENSP00000357789:p.Glu2555Ala	71	1		104	6	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	DNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.599	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		TG	152279698	CT	TG	152279697	3	4	30	1	0	0	0	0	1	0	0	0	5944	680	24	3	4524	3	FLG	1	152279697	Missense_Mutation	DNP	CT	TCGA-ZH-A8Y2-01A-11D-A417-09	197248	152279697	96970924	12	4702											
HDGF	3068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156713449	156713449	+	Missense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:156713449A>T	ENST00000357325.5	-	5	1025	c.711T>A	c.(709-711)caT>caA	p.H237Q	HDGF_ENST00000368209.5_Missense_Mutation_p.H230Q|HDGF_ENST00000537739.1_Missense_Mutation_p.H237Q|HDGF_ENST00000465180.1_5'UTR|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000416666.2_Missense_Mutation_p.H205Q|HDGF_ENST00000368206.5_Missense_Mutation_p.H253Q|MRPL24_ENST00000361531.2_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	237					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTCACCTCTCATGATCTCTGA	0.622																																					p.H253Q		.											.	.	.	0			c.T759A						.						58	66	63					1																	156713449		2203	4300	6503	SO:0001583	missense	3068	exon5			CCTCTCATGATCT	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.711T>A	1.37:g.156713449A>T	ENSP00000349878:p.His237Gln	37	0		50	10	NM_001126050	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671072	0.47781	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.34667	1.89;1.41;1.89;1.47;1.35	4.41	-4.02	0.04034	.	0.521490	0.16686	U	0.203727	T	0.23171	0.0560	N	0.25647	0.755	0.20307	N	0.999915	D;D;D;P	0.65815	0.995;0.995;0.995;0.932	D;D;D;P	0.70487	0.969;0.969;0.969;0.88	T	0.31641	-0.9936	10	0.40728	T	0.16	-9.6676	11.5074	0.50474	0.3455:0.0:0.6545:0.0	.	212;253;230;237	B7Z958;Q5SZ07;Q5SZ08;P51858	.;.;.;HDGF_HUMAN	Q	237;230;237;205;253;260	ENSP00000349878:H237Q;ENSP00000357192:H230Q;ENSP00000443120:H237Q;ENSP00000416752:H205Q;ENSP00000357189:H253Q	ENSP00000349878:H237Q	H	-	3	2	HDGF	154980073	0.727000	0.28069	0.946000	0.38457	0.975000	0.68041	-0.549000	0.06041	-0.667000	0.05303	0.329000	0.21502	CAT	.		0.622	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		T	156713449	A	T	156713449	3	4	30	1	0	0	0	0	1	0	0	0	7045	214	8	5	19	5	HDGF	1	156713449	Missense_Mutation	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	4433752	156713449	92537172	13	4703											
C1orf112	55732	hgsc.bcm.edu;bcgsc.ca	37	1	169796306	169796306	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:169796306G>A	ENST00000286031.6	+	11	1663	c.963G>A	c.(961-963)caG>caA	p.Q321Q	C1orf112_ENST00000413811.2_Silent_p.Q292Q|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.Q321Q	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	321										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)					TCACATTTCAGCCTTTCATGC	0.398																																					p.Q321Q		.											.	.	.	0			c.G963A						.						143	138	140					1																	169796306		2203	4300	6503	SO:0001819	synonymous_variant	55732	exon11			ATTTCAGCCTTTC	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.963G>A	1.37:g.169796306G>A		65	0		86	4	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	CCDS1285.1																																																																																			.		0.398	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		A	169796306	G	A	169796306	2	1	30	1	0	0	0	0	0	0	0	1	1992	962	34	3		3	C1orf112	1	169796306	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	13082857	169796306	79454315	14	4704											
FAM71A	149647	hgsc.bcm.edu	37	1	212798528	212798528	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:212798528G>T	ENST00000294829.3	+	1	740	c.309G>T	c.(307-309)caG>caT	p.Q103H	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	103						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)		GACATGGCCAGGCCACCAAGA	0.557																																					p.Q103H		.											FAM71A,NS,carcinoma,0,1	FAM71A	0	0			c.G309T						.						61	61	61					1																	212798528		2203	4300	6503	SO:0001583	missense	149647	exon1			TGGCCAGGCCACC		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.309G>T	1.37:g.212798528G>T	ENSP00000294829:p.Gln103His	28	0		54	3	NM_153606	Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	4.886	0.164661	0.09287	.	.	ENSG00000162771	ENST00000294829	T	0.04049	3.72	4.18	-0.361	0.12564	.	4.058970	0.00741	N	0.001009	T	0.06096	0.0158	L	0.51422	1.61	0.09310	N	1	B	0.26363	0.147	B	0.18561	0.022	T	0.37033	-0.9723	10	0.51188	T	0.08	-6.8965	3.9381	0.09314	0.346:0.1767:0.4773:0.0	.	103	Q8IYT1	FA71A_HUMAN	H	103	ENSP00000294829:Q103H	ENSP00000294829:Q103H	Q	+	3	2	FAM71A	210865151	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.098000	0.11024	-0.154000	0.11118	-0.262000	0.10625	CAG	.		0.557	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		T	212798528	G	T	212798528	3	4	30	1	0	0	0	0	1	0	0	0	5629	991	35	3	311	3	FAM71A	1	212798528	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	43002222	212798528	36452093	15	4705											
FMN2	56776	broad.mit.edu	37	1	240341360	240341360	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:240341360C>T	ENST00000319653.9	+	3	2152	c.1922C>T	c.(1921-1923)gCt>gTt	p.A641V	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	641					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)			CTCGAGGATGCTGAAACAGGT	0.433																																					p.A641V													.	FMN2	451	0			c.C1922T						.						88	86	87					1																	240341360		2203	4300	6503	SO:0001583	missense	56776	exon3			AGGATGCTGAAAC	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.1922C>T	1.37:g.240341360C>T	ENSP00000318884:p.Ala641Val	50	0		67	3	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296965	0.23650	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.78364	-1.17;-1.17	5.37	1.96	0.26148	.	0.918601	0.09229	N	0.830847	T	0.64560	0.2609	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.50972	-0.8764	10	0.39692	T	0.17	.	4.3712	0.11249	0.1495:0.5589:0.0:0.2916	.	641	Q9NZ56	FMN2_HUMAN	V	74;641	ENSP00000409308:A74V;ENSP00000318884:A641V	ENSP00000318884:A641V	A	+	2	0	FMN2	238407983	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.079000	0.14782	0.219000	0.20840	0.650000	0.86243	GCT	.		0.433	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240341360	C	T	240341360	3	4	30	1	0	0	0	0	1	0	0	0	5972	797	28	3	1932	3	FMN2	1	240341360	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	27542832	240341360	8909261	16	4706											
OR2G3	81469	hgsc.bcm.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F251L(2)		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)			TGATTATATTCTATGGCACCA	0.488																																					p.F251L		.											OR2G3,NS,carcinoma,0,1	OR2G3	0	2	Substitution - Missense(2)	lung(2)	c.C753A						.						109	102	104					1																	247769640		2203	4300	6503	SO:0001583	missense	81469	exon1			TATATTCTATGGC	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.753C>A	1.37:g.247769640C>A	ENSP00000326301:p.Phe251Leu	27	0		45	2	NM_001001914	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847862	0.51164	.	.	ENSG00000177476	ENST00000320002	T	0.00285	8.3	3.65	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.197068	0.24361	U	0.039187	T	0.00580	0.0019	M	0.83012	2.62	0.22401	N	0.999134	D	0.89917	1.0	D	0.91635	0.999	T	0.41251	-0.9519	10	0.72032	D	0.01	.	7.4028	0.26973	0.0:0.7608:0.0:0.2392	.	251	Q8NGZ4	OR2G3_HUMAN	L	251	ENSP00000326301:F251L	ENSP00000326301:F251L	F	+	3	2	OR2G3	245836263	0.000000	0.05858	0.765000	0.31456	0.644000	0.38419	-1.153000	0.03169	0.283000	0.22279	0.492000	0.49549	TTC	.		0.488	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			A	247769640	C	A	247769640	3	1	30	1	0	0	0	0	1	0	0	0	11038	912	32	3	755	3	OR2G3	1	247769640	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	7428280	247769640	1480981	17	4707											
MYT1L	23040	hgsc.bcm.edu;bcgsc.ca	37	2	1926757	1926757	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:1926757C>T	ENST00000399161.2	-	10	1531	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	MYT1L_ENST00000428368.2_Missense_Mutation_p.V262M	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	262					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)	p.V262L(1)		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)		AGGGAGTCCACTGTTTCTCTA	0.428																																					p.V262M		.											.	.	.	1	Substitution - Missense(1)	lung(1)	c.G784A						.						188	181	183					2																	1926757		1941	4135	6076	SO:0001583	missense	23040	exon10			AGTCCACTGTTTC	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.784G>A	2.37:g.1926757C>T	ENSP00000382114:p.Val262Met	81	0		86	4	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	13.71	2.319429	0.41096	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.57752	0.38;0.38	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.916;0.999	T	0.63532	-0.6616	10	0.49607	T	0.09	-45.9005	20.6439	0.99570	0.0:1.0:0.0:0.0	.	262;262	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	M	262;210;262	ENSP00000382114:V262M;ENSP00000396103:V262M	ENSP00000295067:V210M	V	-	1	0	MYT1L	1905764	1.000000	0.71417	0.972000	0.41901	0.120000	0.20174	5.928000	0.70088	2.884000	0.98904	0.655000	0.94253	GTG	.		0.428	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1926757	C	T	1926757	3	4	30	1	0	0	0	0	1	0	0	0	10145	565	20	3	2834	3	MYT1L	2	1926757	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09		1926757	241272616	18	4708											
SMC6	79677	hgsc.bcm.edu	37	2	17906563	17906563	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:17906563C>T	ENST00000448223.2	-	9	956	c.687G>A	c.(685-687)acG>acA	p.T229T	SMC6_ENST00000351948.4_Silent_p.T229T|SMC6_ENST00000381272.4_Silent_p.T255T|SMC6_ENST00000402989.1_Silent_p.T229T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	229					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.E231fs*17(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTTTCTTTCGTTTCCATAA	0.313																																					p.T229T		.											.,1	.	102	1	Deletion - Frameshift(1)	kidney(1)	c.G687A						.						158	128	138					2																	17906563		2203	4297	6500	SO:0001819	synonymous_variant	79677	exon9			TTCTTTCGTTTCC	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.687G>A	2.37:g.17906563C>T		35	0		60	3	NM_001142286	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	CCDS1690.1																																																																																			.		0.313	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		T	17906563	C	T	17906563	2	4	30	1	0	0	0	0	0	0	0	1	14832	871	31	1		1	SMC6	2	17906563	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	15979806	17906563	225292810	19	4709											
PPM1G	5496	hgsc.bcm.edu	37	2	27605369	27605369	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:27605369G>T	ENST00000344034.4	-	8	1569	c.1305C>A	c.(1303-1305)ttC>ttA	p.F435L	PPM1G_ENST00000350803.4_Missense_Mutation_p.F435L|ZNF513_ENST00000323703.6_5'Flank|ZNF513_ENST00000407879.1_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	435					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAATGACCATGAATTCATGGT	0.483																																					p.F435L		.											PPM1G,NS,carcinoma,0,1	PPM1G	0	0			c.C1305A						.						244	228	233					2																	27605369		2203	4300	6503	SO:0001583	missense	5496	exon8			GACCATGAATTCA	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1305C>A	2.37:g.27605369G>T	ENSP00000342778:p.Phe435Leu	35	0		31	2	NM_177983		Missense_Mutation	SNP	ENST00000344034.4	37	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596236	0.66332	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.25250	1.81;1.81	5.64	1.88	0.25563	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.82323	2.585	0.80722	D	1	D;D	0.63880	0.991;0.993	P;D	0.74348	0.843;0.983	T	0.48725	-0.9010	10	0.87932	D	0	-8.092	9.2151	0.37342	0.2981:0.0:0.7019:0.0	.	236;435	Q59GB2;O15355	.;PPM1G_HUMAN	L	435;435;418;236	ENSP00000342778:F435L;ENSP00000264714:F435L	ENSP00000342778:F435L	F	-	3	2	PPM1G	27458873	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.764000	0.62264	0.344000	0.23847	-0.150000	0.13652	TTC	.		0.483	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		T	27605369	G	T	27605369	3	4	30	1	0	0	0	0	1	0	0	0	12382	1281	45	3	347	3	PPM1G	2	27605369	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	9698806	27605369	215594004	20	4710											
SUPT7L	9913	hgsc.bcm.edu	37	2	27878431	27878431	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:27878431G>T	ENST00000337768.5	-	5	1352	c.783C>A	c.(781-783)gtC>gtA	p.V261V	SUPT7L_ENST00000404798.2_Silent_p.V126V|SUPT7L_ENST00000405491.1_Silent_p.V259V|SUPT7L_ENST00000464789.2_Silent_p.V259V|SUPT7L_ENST00000406540.1_Silent_p.V259V	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	261					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)					TCTCAGGATTGACAATCCTTT	0.448																																					p.V261V		.											SUPT7L,NS,carcinoma,0,1	SUPT7L	0	0			c.C783A						.						119	117	118					2																	27878431		1940	4155	6095	SO:0001819	synonymous_variant	9913	exon5			AGGATTGACAATC	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.783C>A	2.37:g.27878431G>T		31	0		25	2	NM_014860	B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	ENST00000337768.5	37	CCDS42667.1																																																																																			.		0.448	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		T	27878431	G	T	27878431	2	4	30	1	0	0	0	0	0	0	0	1	15448	1277	45	3		3	SUPT7L	2	27878431	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	273062	27878431	215320942	21	4711											
EML4	27436	hgsc.bcm.edu	37	2	42483696	42483696	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:42483696T>C	ENST00000318522.5	+	3	526	c.264T>C	c.(262-264)ggT>ggC	p.G88G	EML4_ENST00000401738.3_Silent_p.G88G|EML4_ENST00000402711.2_Silent_p.G88G	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	88					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						ATGGAAGTGGTGCAAACAGAA	0.368			T	ALK	NSCLC																																p.G88G		.		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	.	.	.	0			c.T264C						.						115	103	107					2																	42483696		2203	4300	6503	SO:0001819	synonymous_variant	27436	exon3			AAGTGGTGCAAAC	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.264T>C	2.37:g.42483696T>C		93	0		110	5	NM_001145076	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	CCDS1807.1																																																																																			.		0.368	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		C	42483696	T	C	42483696	2	2	30	1	0	0	0	0	0	0	0	1	5115	1683	59	4		4	EML4	2	42483696	Silent	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	14605265	42483696	200715677	22	4712											
GTDC1	79712	hgsc.bcm.edu	37	2	144728223	144728223	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:144728223G>T	ENST00000392869.2	-	7	1134	c.982C>A	c.(982-984)Cca>Aca	p.P328T	GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.P328T|GTDC1_ENST00000409214.1_Missense_Mutation_p.P328T|GTDC1_ENST00000409298.1_Missense_Mutation_p.P210T|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000463875.2_Missense_Mutation_p.P199T|GTDC1_ENST00000542155.1_Missense_Mutation_p.P328T	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	328					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)		GAGGTACCTGGGACATCTGTG	0.333																																					p.P328T		.											.	.	.	0			c.C982A						.						87	85	86					2																	144728223		2203	4300	6503	SO:0001583	missense	79712	exon8			TACCTGGGACATC	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.982C>A	2.37:g.144728223G>T	ENSP00000376608:p.Pro328Thr	87	0		88	4	NM_001006636	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520985	0.64747	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000409298;ENST00000542155;ENST00000344850;ENST00000463875	T;T;D;T;T;T	0.81659	-0.92;-0.92;-1.52;-0.92;-0.92;-0.92	5.81	5.81	0.92471	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	M	0.90977	3.165	0.58432	D	0.999992	D;P;D	0.89917	1.0;0.855;1.0	D;P;D	0.91635	0.999;0.543;0.999	D	0.93041	0.6457	10	0.66056	D	0.02	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	328;210;328	G1UFN1;B8ZZ45;Q4AE62	.;.;GTDC1_HUMAN	T	328;328;210;328;328;199	ENSP00000376608:P328T;ENSP00000386581:P328T;ENSP00000386691:P210T;ENSP00000438323:P328T;ENSP00000339750:P328T;ENSP00000437964:P199T	ENSP00000339750:P328T	P	-	1	0	GTDC1	144444693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.905000	0.69893	2.746000	0.94184	0.655000	0.94253	CCA	.		0.333	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		T	144728223	G	T	144728223	3	4	30	1	0	0	0	0	1	0	0	0	6878	1232	43	3	414	3	GTDC1	2	144728223	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	102244527	144728223	98471150	23	4713											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	152384096	152384096	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:152384096C>G	ENST00000172853.10	-	119	16783	c.16636G>C	c.(16636-16638)Gac>Cac	p.D5546H	NEB_ENST00000603639.1_Missense_Mutation_p.D7247H|NEB_ENST00000427231.2_Missense_Mutation_p.D7247H|NEB_ENST00000604864.1_Missense_Mutation_p.D7247H|NEB_ENST00000409198.1_Missense_Mutation_p.D5546H|NEB_ENST00000397345.3_Missense_Mutation_p.D7247H			P20929	NEBU_HUMAN	nebulin	5546					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)		TTCTTATAGTCCAGCTGTTTT	0.473																																					p.D7282H		.											.	.	.	0			c.G21844C						.						63	63	63					2																	152384096		1892	4117	6009	SO:0001583	missense	4703	exon148			TATAGTCCAGCTG	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.16636G>C	2.37:g.152384096C>G	ENSP00000172853:p.Asp5546His	51	0		38	8	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	16.59	3.164558	0.57476	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	6.17	5.27	0.74061	.	0.087776	0.85682	D	0.000000	T	0.60818	0.2298	L	0.54323	1.7	0.80722	D	1	P;D;D	0.89917	0.871;0.981;1.0	P;D;D	0.85130	0.634;0.952;0.997	T	0.58629	-0.7603	10	0.54805	T	0.06	.	17.0573	0.86537	0.1275:0.8725:0.0:0.0	.	5546;7247;1977	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	H	5546;7247;7247;1595;1977;5546	ENSP00000386259:D5546H;ENSP00000380505:D7247H;ENSP00000416578:D7247H;ENSP00000410961:D1977H;ENSP00000172853:D5546H	ENSP00000172853:D5546H	D	-	1	0	NEB	152092342	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.657000	0.61490	2.941000	0.99782	0.655000	0.94253	GAC	.		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152384096	C	G	152384096	3	3	30	1	0	0	0	0	1	0	0	0	10341	855	30	5	3982	5	NEB	2	152384096	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	7655873	152384096	90815277	24	4714											
KIAA1715	80856	broad.mit.edu	37	2	176794915	176794915	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:176794915T>C	ENST00000272748.4	-	13	1314	c.1067A>G	c.(1066-1068)cAc>cGc	p.H356R	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.H387R	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	356					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AAGAACATCGTGTTCTAAAGA	0.353																																					p.H356R													.	KIAA1715	61	0			c.A1067G						.						143	132	136					2																	176794915		2203	4299	6502	SO:0001583	missense	80856	exon13			ACATCGTGTTCTA	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1067A>G	2.37:g.176794915T>C	ENSP00000272748:p.His356Arg	43	0		36	4	NM_030650	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	t	7.462	0.644953	0.14451	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.43	4.25	0.50352	.	0.687038	0.15427	N	0.262905	T	0.37625	0.1010	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.18147	-1.0346	9	0.87932	D	0	0.062	10.4469	0.44499	0.0:0.0:0.2064:0.7936	.	358;387;353;356	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	R	356;358;233;387	.	ENSP00000272748:H356R	H	-	2	0	KIAA1715	176503161	0.983000	0.35010	1.000000	0.80357	0.971000	0.66376	2.066000	0.41452	0.943000	0.37553	0.487000	0.48397	CAC	.		0.353	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		C	176794915	T	C	176794915	3	2	30	1	0	0	0	0	1	0	0	0	8281	1696	59	4	223	4	KIAA1715	2	176794915	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	24410819	176794915	66404458	25	4715	44	2									
KIAA1715	80856	broad.mit.edu	37	2	176794918	176794918	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:176794918T>C	ENST00000272748.4	-	13	1311	c.1064A>G	c.(1063-1065)gAa>gGa	p.E355G	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.E386G	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	355					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AACATCGTGTTCTAAAGATTC	0.348																																					p.E355G													.	KIAA1715	61	0			c.A1064G						.						138	127	131					2																	176794918		2203	4299	6502	SO:0001583	missense	80856	exon13			TCGTGTTCTAAAG	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1064A>G	2.37:g.176794918T>C	ENSP00000272748:p.Glu355Gly	40	0		35	4	NM_030650	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	t	13.04	2.118515	0.37436	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	3.99	3.99	0.46301	.	0.296732	0.38548	N	0.001655	T	0.67239	0.2872	M	0.61703	1.905	0.80722	D	1	D;B;B;B	0.63880	0.993;0.033;0.005;0.006	P;B;B;B	0.60886	0.88;0.013;0.006;0.003	T	0.70200	-0.4937	9	0.87932	D	0	-8.4093	9.5972	0.39580	0.0:0.0:0.0:1.0	.	357;386;352;355	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	G	355;357;232;386	.	ENSP00000272748:E355G	E	-	2	0	KIAA1715	176503164	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.019000	0.49635	1.555000	0.49500	0.487000	0.48397	GAA	.		0.348	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		C	176794918	T	C	176794918	3	2	30	1	0	0	0	0	1	0	0	0	8281	1783	62	4	226	4	KIAA1715	2	176794918	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	3	176794918	66404455	26	4716	44	2									
NFE2L2	4780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:178098799T>A	ENST00000397062.3	-	2	800	c.246A>T	c.(244-246)gaA>gaT	p.E82D	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|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)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																											p.E82D		.		Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	NFE2L2,NS,carcinoma,0,9	NFE2L2	0	9	Substitution - Missense(8)|Deletion - In frame(1)	endometrium(3)|liver(2)|upper_aerodigestive_tract(1)|cervix(1)|oesophagus(1)|kidney(1)	c.A246T						.						138	137	137					2																	178098799		1903	4104	6007	SO:0001583	missense	4780	exon2			GAGAAATTCACCT		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.246A>T	2.37:g.178098799T>A	ENSP00000380252:p.Glu82Asp	68	0		94	45	NM_006164	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816244	0.90790	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.67;1.67;1.53	5.78	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.87180	2.865	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.64976	-0.6280	10	0.72032	D	0.01	.	11.2269	0.48888	0.0:0.0712:0.0:0.9288	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	66;82;66;66;66;66	ENSP00000380253:E66D;ENSP00000380252:E82D;ENSP00000411575:E66D;ENSP00000400073:E66D;ENSP00000412191:E66D;ENSP00000410015:E66D	ENSP00000380252:E82D	E	-	3	2	NFE2L2	177807045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.909000	0.39917	2.210000	0.71456	0.460000	0.39030	GAA	.		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		A	178098799	T	A	178098799	3	1	30	1	0	0	0	0	1	0	0	0	10407	1490	52	5	1587	5	NFE2L2	2	178098799	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	1303881	178098799	65100574	27	4717											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179437209	179437209	+	Missense_Mutation	SNP	T	T	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:179437209T>A	ENST00000591111.1	-	276	68951	c.68727A>T	c.(68725-68727)aaA>aaT	p.K22909N	TTN_ENST00000359218.5_Missense_Mutation_p.K15610N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15485N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K21982N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K24550N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15677N|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22909	Fibronectin type-III 66. {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)			AGTTCTTGATTTTTGAACCTC	0.453																																					p.K24550N		.											.	.	.	0			c.A73650T						.						73	69	71					2																	179437209		1872	4107	5979	SO:0001583	missense	7273	exon326			CTTGATTTTTGAA	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.68727A>T	2.37:g.179437209T>A	ENSP00000465570:p.Lys22909Asn	35	0		44	10	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	10.27	1.305140	0.23736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	1.94	0.25998	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50188	0.1601	L	0.58428	1.81	0.48632	D	0.999687	P;P;P;P	0.43633	0.813;0.813;0.813;0.701	B;B;B;B	0.42798	0.398;0.398;0.398;0.247	T	0.54275	-0.8318	9	0.87932	D	0	.	11.0461	0.47859	0.0:0.2049:0.0:0.7951	.	15485;15610;15677;22909	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	21982;15485;15677;15610;15483	ENSP00000343764:K21982N;ENSP00000434586:K15485N;ENSP00000340554:K15677N;ENSP00000352154:K15610N	ENSP00000340554:K15677N	K	-	3	2	TTN	179145455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.872000	0.39549	0.509000	0.28195	0.528000	0.53228	AAA	.		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179437209	T	A	179437209	3	1	30	1	0	0	0	0	1	0	0	0	16784	1838	64	5	34477	5	TTN	2	179437209	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	1338410	179437209	63762164	28	4718											
HECW2	57520	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	197138745	197138745	+	Splice_Site	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:197138745C>T	ENST00000260983.3	-	16	3420	c.3238G>A	c.(3238-3240)Gct>Act	p.A1080T	HECW2_ENST00000409111.1_Splice_Site_p.A724T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1080					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						GATGACATACCCACTGGAACC	0.468																																					p.A1080T		.											.	.	.	0			c.G3238A						.						299	220	247					2																	197138745		2203	4300	6503	SO:0001630	splice_region_variant	57520	exon16			ACATACCCACTGG	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.3238+1G>A	2.37:g.197138745C>T		45	0		40	19	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282130	0.80692	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.83914	-1.78;-1.78	5.45	5.45	0.79879	.	0.192676	0.44097	D	0.000492	T	0.76622	0.4013	L	0.39397	1.21	0.80722	D	1	B	0.25772	0.134	B	0.16289	0.015	T	0.70684	-0.4804	9	.	.	.	.	17.6425	0.88140	0.0:1.0:0.0:0.0	.	1080	Q9P2P5	HECW2_HUMAN	T	724;1080	ENSP00000386775:A724T;ENSP00000260983:A1080T	.	A	-	1	0	HECW2	196846990	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.303000	0.78871	2.836000	0.97738	0.655000	0.94253	GCT	.		0.468	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	Missense_Mutation	T	197138745	C	T	197138745	5	4	30	1	0	0	0	0	0	0	1	0	7070	637	22	3	1536	3	HECW2	2	197138745	Splice_Site	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	17701536	197138745	46060628	29	4719											
NEU4	129807	hgsc.bcm.edu	37	2	242757381	242757381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr2:242757381G>A	ENST00000391969.2	+	5	1173	c.462G>A	c.(460-462)tgG>tgA	p.W154*	NEU4_ENST00000407683.1_Nonsense_Mutation_p.W154*|NEU4_ENST00000405370.1_Nonsense_Mutation_p.W154*|NEU4_ENST00000404257.1_Nonsense_Mutation_p.W166*|NEU4_ENST00000325935.6_Nonsense_Mutation_p.W167*	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	154					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)		CTGCAGACTGGGCCACATTCG	0.711																																					p.W167X		.											.	.	.	0			c.G501A						.						18	17	17					2																	242757381		2194	4290	6484	SO:0001587	stop_gained	129807	exon4			AGACTGGGCCACA	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.462G>A	2.37:g.242757381G>A	ENSP00000375830:p.Trp154*	7	0		23	6	NM_001167599	A8K056|J3KNJ5|Q96D64	Nonsense_Mutation	SNP	ENST00000391969.2	37	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.814796|5.814796	0.96982|0.96982	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000415936;ENST00000426032|ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288	T;T|.	0.45276|.	0.92;0.9|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.44726|.	0.1307|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36040|.	-0.9764|.	6|.	0.39692|0.02654	T|T	0.17|1	-20.7656|-20.7656	17.1412|17.1412	0.86754|0.86754	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	69;81|154;154;164;154;166;154;167;154	ENSP00000397167:G69E;ENSP00000406678:G81E|.	ENSP00000397167:G69E|ENSP00000320318:W167X	G|W	+|+	2|3	0|0	NEU4|NEU4	242406054|242406054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.059000|0.059000	0.15707|0.15707	6.996000|6.996000	0.76263|0.76263	2.033000|2.033000	0.60031|0.60031	0.443000|0.443000	0.29094|0.29094	GGG|TGG	.		0.711	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		A	242757381	G	A	242757381	4	1	30	1	0	0	0	0	0	1	0	0	10383	1241	43	3	515	3	NEU4	2	242757381	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	45618636	242757381	441992	30	4720											
TMEM43	79188	hgsc.bcm.edu	37	3	14183116	14183116	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:14183116G>T	ENST00000306077.4	+	12	1278	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	342					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGTTTTCCGAGACCTGGTCAA	0.577																																					p.D342Y		.											.	.	.	0			c.G1024T						.						181	140	154					3																	14183116		2203	4300	6503	SO:0001583	missense	79188	exon12			TTCCGAGACCTGG	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.1024G>T	3.37:g.14183116G>T	ENSP00000303992:p.Asp342Tyr	52	0		45	3	NM_024334	Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007735	0.93287	.	.	ENSG00000170876	ENST00000306077	T	0.37058	1.22	5.71	5.71	0.89125	.	0.103355	0.64402	D	0.000004	T	0.48333	0.1494	L	0.29908	0.895	0.80722	D	1	D	0.61080	0.989	P	0.61070	0.883	T	0.46275	-0.9203	10	0.66056	D	0.02	-39.9708	19.8516	0.96743	0.0:0.0:1.0:0.0	.	342	Q9BTV4	TMM43_HUMAN	Y	342	ENSP00000303992:D342Y	ENSP00000303992:D342Y	D	+	1	0	TMEM43	14158117	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.114000	0.94329	2.685000	0.91497	0.585000	0.79938	GAC	.		0.577	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		T	14183116	G	T	14183116	3	4	30	1	0	0	0	0	1	0	0	0	16214	942	33	3	1070	3	TMEM43	3	14183116	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		14183116	183839314	31	4721											
BAP1	51533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52442599	52442599	+	5'Flank	SNP	A	A	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:52442599A>G	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Missense_Mutation_p.L49P|BAP1_ENST00000460680.1_Missense_Mutation_p.L49P	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCATTTGAACAGGAAGATAAA	0.468																																					p.L49P		.											.	.	.	0			c.T146C						.						35	34	34					3																	52442599		2203	4299	6502	SO:0001631	upstream_gene_variant	8314	exon4			TTGAACAGGAAGA	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442599A>G	Exception_encountered	38	0		20	16	NM_004656	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.915937	0.92178	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.64260	-0.09;-0.09	5.43	5.43	0.79202	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.64402	D	0.000001	D	0.86029	0.5835	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90851	0.4731	10	0.87932	D	0	-2.3505	15.4676	0.75412	1.0:0.0:0.0:0.0	.	49	Q92560	BAP1_HUMAN	P	49	ENSP00000417132:L49P;ENSP00000296288:L49P	ENSP00000296288:L49P	L	-	2	0	BAP1	52417639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	2.061000	0.61500	0.533000	0.62120	CTG	.		0.468	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52442599	A	G	52442599	1	3	30	0	1	0	0	0	0	0	0	0	1312	188	7	4		4	BAP1	3	52442599	5'Flank	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	38259483	52442599	145579831	32	4722											
TMEM110	375346	hgsc.bcm.edu	37	3	52876847	52876847	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:52876847G>T	ENST00000355083.5	-	7	893	c.748C>A	c.(748-750)Cac>Aac	p.H250N	TMEM110_ENST00000464769.1_5'UTR|TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.H250N	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	250						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		GACTCCTCGTGGGATGCGGCC	0.592																																					p.H250N		.											.,1	.	.	0			c.C748A						.						124	110	115					3																	52876847		2203	4300	6503	SO:0001583	missense	100526772	exon7			CCTCGTGGGATGC	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.748C>A	3.37:g.52876847G>T	ENSP00000347195:p.His250Asn	45	0		36	3	NM_001198974		Missense_Mutation	SNP	ENST00000355083.5	37	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434146	0.83776	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.09	5.09	0.68999	.	0.059815	0.64402	U	0.000003	T	0.35537	0.0935	N	0.24115	0.695	0.58432	D	0.999997	P;P	0.41673	0.759;0.759	B;B	0.37833	0.259;0.259	T	0.12656	-1.0539	9	0.19590	T	0.45	-14.2721	11.9165	0.52767	0.08:0.0:0.92:0.0	.	250;250	Q86TL2;A8MSY1	TM110_HUMAN;.	N	250	.	ENSP00000347195:H250N	H	-	1	0	TMEM110-MUSTN1;TMEM110	52851887	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.244000	0.78228	2.345000	0.79718	0.591000	0.81541	CAC	.		0.592	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		T	52876847	G	T	52876847	3	4	30	1	0	0	0	0	1	0	0	0	16074	1348	47	3	144	3	TMEM110	3	52876847	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	434248	52876847	145145583	33	4723											
SIDT1	54847	hgsc.bcm.edu	37	3	113321990	113321990	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:113321990G>T	ENST00000264852.4	+	12	1982	c.1256G>T	c.(1255-1257)cGg>cTg	p.R419L	SIDT1_ENST00000393830.3_Missense_Mutation_p.R419L|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	419					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						AACATCATCCGGACCAAGGTA	0.502																																					p.R419L		.											SIDT1,mucosal,malignant_melanoma,0,1	SIDT1	0	0			c.G1256T						.						91	86	88					3																	113321990		2203	4300	6503	SO:0001583	missense	54847	exon12			TCATCCGGACCAA	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.1256G>T	3.37:g.113321990G>T	ENSP00000264852:p.Arg419Leu	40	0		26	2	NM_017699	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954762	0.92726	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22743	1.94;1.94	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000010	T	0.50051	0.1593	M	0.83953	2.67	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.61940	0.863;0.896	T	0.47195	-0.9136	10	0.46703	T	0.11	-16.6897	20.047	0.97613	0.0:0.0:1.0:0.0	.	419;419	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	L	419	ENSP00000264852:R419L;ENSP00000377416:R419L	ENSP00000264852:R419L	R	+	2	0	SIDT1	114804680	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.391000	0.97249	2.802000	0.96397	0.563000	0.77884	CGG	.		0.502	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113321990	G	T	113321990	3	4	30	1	0	0	0	0	1	0	0	0	14347	1116	39	2	1302	2	SIDT1	3	113321990	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	60445143	113321990	84700440	34	4724											
SLC41A3	54946	hgsc.bcm.edu	37	3	125725323	125725323	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:125725323C>T	ENST00000315891.6	-	12	1689	c.1451G>A	c.(1450-1452)tGc>tAc	p.C484Y	SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.C448Y|SLC41A3_ENST00000383598.2_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	484						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.C484Y(1)		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)		ATGTTGAGTGCAGATGAAGGG	0.433																																					p.C484Y		.											SLC41A3_ENST00000315891,NS,carcinoma,0,1	SLC41A3_ENST00000315891	0	1	Substitution - Missense(1)	endometrium(1)	c.G1451A						.						60	58	59					3																	125725323		2203	4300	6503	SO:0001583	missense	54946	exon12			TGAGTGCAGATGA		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.1451G>A	3.37:g.125725323C>T	ENSP00000326070:p.Cys484Tyr	39	0		40	2	NM_001008485	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	C	6.798	0.516185	0.12944	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.36340	1.26;1.26	3.3	-0.885	0.10593	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.22695	-1.0209	9	0.87932	D	0	-3.9603	0.524	0.00617	0.1876:0.3386:0.2209:0.253	.	448;484	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	Y	448;484	ENSP00000264471:C448Y;ENSP00000326070:C484Y	ENSP00000326070:C484Y	C	-	2	0	SLC41A3	127208013	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.042000	0.03539	-0.214000	0.10078	-0.500000	0.04577	TGC	.		0.433	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		T	125725323	C	T	125725323	3	4	30	1	0	0	0	0	1	0	0	0	14676	710	25	3	76	3	SLC41A3	3	125725323	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	12403333	125725323	72297107	35	4725											
SLC9A9	285195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	143567100	143567100	+	Missense_Mutation	SNP	A	A	G	rs559067786		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:143567100A>G	ENST00000316549.6	-	1	273	c.65T>C	c.(64-66)gTg>gCg	p.V22A	SLC9A9_ENST00000498717.2_5'UTR	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	22					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						AAGCAGCTCCACCGCTCCCTG	0.413																																					p.V22A		.											.	.	.	0			c.T65C						.						156	149	151					3																	143567100		2203	4300	6503	SO:0001583	missense	285195	exon1			AGCTCCACCGCTC	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.65T>C	3.37:g.143567100A>G	ENSP00000320246:p.Val22Ala	108	0		66	14	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325309	0.60743	.	.	ENSG00000181804	ENST00000316549;ENST00000474151	T;T	0.22743	1.94;1.94	5.66	5.66	0.87406	.	0.095420	0.45867	D	0.000326	T	0.16599	0.0399	L	0.31065	0.9	0.43885	D	0.996505	B	0.21520	0.057	B	0.15052	0.012	T	0.07028	-1.0794	10	0.17832	T	0.49	.	15.8923	0.79309	1.0:0.0:0.0:0.0	.	22	Q8IVB4	SL9A9_HUMAN	A	22	ENSP00000320246:V22A;ENSP00000418627:V22A	ENSP00000320246:V22A	V	-	2	0	SLC9A9	145049790	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	4.528000	0.60580	2.157000	0.67596	0.533000	0.62120	GTG	.		0.413	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		G	143567100	A	G	143567100	3	3	30	1	0	0	0	0	1	0	0	0	14766	159	6	4	1936	4	SLC9A9	3	143567100	Missense_Mutation	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	17841777	143567100	54455330	36	4726											
LRRIQ4	344657	hgsc.bcm.edu	37	3	169555341	169555341	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:169555341G>T	ENST00000340806.6	+	5	1605	c.1605G>T	c.(1603-1605)aaG>aaT	p.K535N		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	535								p.K535K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AACCACAAAAGAAAGGAAAGA	0.368																																					p.K535N		.											LRRIQ4,rectum,carcinoma,0,1	LRRIQ4	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G1605T						.						60	55	57					3																	169555341		1844	4101	5945	SO:0001583	missense	344657	exon5			ACAAAAGAAAGGA		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1605G>T	3.37:g.169555341G>T	ENSP00000342188:p.Lys535Asn	85	0		47	3	NM_001080460		Missense_Mutation	SNP	ENST00000340806.6	37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100276	0.20552	.	.	ENSG00000188306	ENST00000340806	T	0.37915	1.17	4.98	2.12	0.27331	.	0.000000	0.64402	D	0.000016	T	0.50973	0.1647	M	0.62723	1.935	0.35790	D	0.822305	D	0.89917	1.0	D	0.83275	0.996	T	0.58014	-0.7711	10	0.52906	T	0.07	.	7.8205	0.29284	0.3406:0.0:0.6594:0.0	.	535	A6NIV6	LRIQ4_HUMAN	N	535	ENSP00000342188:K535N	ENSP00000342188:K535N	K	+	3	2	LRRIQ4	171038035	0.999000	0.42202	0.994000	0.49952	0.088000	0.18126	0.332000	0.19751	0.586000	0.29626	0.555000	0.69702	AAG	.		0.368	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		T	169555341	G	T	169555341	3	4	30	1	0	0	0	0	1	0	0	0	9066	933	33	3	1623	3	LRRIQ4	3	169555341	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	25988241	169555341	28467089	37	4727											
SOX2	6657	broad.mit.edu;bcgsc.ca	37	3	181430207	181430226	+	Frame_Shift_Del	DEL	GCGGCGGCGGCAACTCCACC	GCGGCGGCGGCAACTCCACC	-	rs398123693		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr3:181430207_181430226delGCGGCGGCGGCAACTCCACC	ENST00000325404.1	+	1	486_505	c.59_78delGCGGCGGCGGCAACTCCACC	c.(58-78)ggcggcggcggcaactccaccfs	p.GGGGNST20fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.GGGGNST20fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	20	Poly-Gly.				adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACTTCGGGGGGCGGCGGCGGCAACTCCACCGCGGCGGCGG	0.732			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																														p.20_26del				Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	.	SOX2	28	0			c.59_78del	GRCh37	CD054424|CD070528|CI064733	SOX2	D|I		.																																			SO:0001589	frameshift_variant	6657	exon1			CGGGGGGCGGCGG	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.59_78delGCGGCGGCGGCAACTCCACC	3.37:g.181430207_181430226delGCGGCGGCGGCAACTCCACC	ENSP00000323588:p.Gly20fs	25	0		12	8	NM_003106	Q14537	Frame_Shift_Del	DEL	ENST00000325404.1	37	CCDS3239.1																																																																																			.		0.732	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		-	181430226	GCGGCGGCGGCAACTCCACC	-	181430207	7	5	30	1	0	1	0	1	0	0	0	0	14994	1203	42	0	61	0	SOX2	3	181430207	Frame_Shift_Del	DEL	GCGGCGGCGGCAACTCCACC	TCGA-ZH-A8Y2-01A-11D-A417-09	11874866	181430207	16592223	38	4728											
WHSC1	7468	hgsc.bcm.edu;bcgsc.ca	37	4	1918727	1918727	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr4:1918727G>T	ENST00000382895.3	+	6	1321	c.890G>T	c.(889-891)aGt>aTt	p.S297I	WHSC1_ENST00000382892.2_Missense_Mutation_p.S297I|WHSC1_ENST00000514045.1_Missense_Mutation_p.S297I|WHSC1_ENST00000508803.1_Missense_Mutation_p.S297I|WHSC1_ENST00000398261.1_Missense_Mutation_p.S297I|WHSC1_ENST00000382891.5_Missense_Mutation_p.S297I|WHSC1_ENST00000420906.2_Missense_Mutation_p.S297I|WHSC1_ENST00000503128.1_Missense_Mutation_p.S297I	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	297					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)		TGCCAGGAAAGTGCCAAGCAG	0.398			T	IGH@	MM																																p.S297I		.		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.	.	0			c.G890T						.						65	68	67					4																	1918727		2203	4300	6503	SO:0001583	missense	7468	exon4			AGGAAAGTGCCAA	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.890G>T	4.37:g.1918727G>T	ENSP00000372351:p.Ser297Ile	98	0		74	4	NM_133335	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890294	0.91889	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.78704	0.4325	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.994;0.97;0.994;0.997	P;P;P;D	0.64410	0.896;0.78;0.896;0.925	T	0.76484	-0.2942	10	0.38643	T	0.18	.	19.0434	0.93011	0.0:0.0:1.0:0.0	.	297;297;297;297	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	I	297	ENSP00000423972:S297I;ENSP00000421681:S297I;ENSP00000372347:S297I;ENSP00000372348:S297I;ENSP00000399251:S297I;ENSP00000372351:S297I;ENSP00000425761:S297I;ENSP00000422878:S297I;ENSP00000381311:S297I	ENSP00000308780:S297I	S	+	2	0	WHSC1	1888525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.716000	0.84723	2.717000	0.92951	0.655000	0.94253	AGT	.		0.398	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		T	1918727	G	T	1918727	3	4	30	1	0	0	0	0	1	0	0	0	17411	1029	36	3	900	3	WHSC1	4	1918727	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		1918727	189235549	39	4729											
DSPP	1834	hgsc.bcm.edu	37	4	88537123	88537123	+	Silent	SNP	C	C	T	rs372453629	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr4:88537123C>T	ENST00000282478.7	+	4	3342	c.3309C>T	c.(3307-3309)agC>agT	p.S1103S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1103S			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		.											DSPP,NS,carcinoma,0,2	DSPP	0	0			c.C3309T						.						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		7	2		2	2	NM_014208	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		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	30	1	0	0	0	0	0	0	0	1	4796	767	27	1		1	DSPP	4	88537123	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	86618396	88537123	102617153	40	4730											
BBS12	166379	bcgsc.ca	37	4	123663872	123663872	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr4:123663872G>T	ENST00000314218.3	+	2	1018	c.825G>T	c.(823-825)ttG>ttT	p.L275F	BBS12_ENST00000542236.1_Missense_Mutation_p.L275F	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	275					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						CAGTAGGCTTGAGTCATGGAG	0.403									Bardet-Biedl syndrome																												p.L275F													.	BBS12	63	0			c.G825T						.						83	81	81					4																	123663872		2203	4300	6503	SO:0001583	missense	166379	exon3	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AGGCTTGAGTCAT	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.825G>T	4.37:g.123663872G>T	ENSP00000319062:p.Leu275Phe	30	0		22	3	NM_001178007	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482311	0.63962	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	D;D	0.82433	-1.61;-1.61	5.48	4.58	0.56647	.	0.298586	0.26840	N	0.022224	D	0.89801	0.6820	M	0.71581	2.175	0.44539	D	0.997493	D	0.89917	1.0	D	0.87578	0.998	D	0.90395	0.4398	10	0.87932	D	0	-33.6815	14.1105	0.65118	0.0:0.0:0.7474:0.2526	.	275	Q6ZW61	BBS12_HUMAN	F	275	ENSP00000319062:L275F;ENSP00000438273:L275F	ENSP00000319062:L275F	L	+	3	2	BBS12	123883322	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	1.591000	0.36665	2.729000	0.93468	0.650000	0.86243	TTG	.		0.403	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		T	123663872	G	T	123663872	3	4	30	1	0	0	0	0	1	0	0	0	1338	1281	45	3	827	3	BBS12	4	123663872	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	35126749	123663872	67490404	41	4731											
SPRY1	10252	bcgsc.ca	37	4	124322966	124322966	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr4:124322966C>A	ENST00000394339.2	+	2	560	c.220C>A	c.(220-222)Cat>Aat	p.H74N	SPRY1_ENST00000339241.1_Missense_Mutation_p.H74N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	74					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						ACAAGAAAAGCATGAAAGGAC	0.463																																					p.H74N													.	SPRY1	28	0			c.C220A						.						104	105	105					4																	124322966		2203	4300	6503	SO:0001583	missense	10252	exon2			GAAAAGCATGAAA	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.220C>A	4.37:g.124322966C>A	ENSP00000377871:p.His74Asn	32	0		18	3	NM_001258039	D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936558	0.18206	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.54279	0.58;1.57;0.58	4.78	4.78	0.61160	.	0.295511	0.32901	N	0.005511	T	0.42921	0.1224	L	0.34521	1.04	0.43275	D	0.995231	B	0.19817	0.039	B	0.14578	0.011	T	0.24905	-1.0147	9	.	.	.	-5.9293	17.6504	0.88162	0.0:1.0:0.0:0.0	.	74	O43609	SPY1_HUMAN	N	74	ENSP00000343785:H74N;ENSP00000421036:H74N;ENSP00000377871:H74N	.	H	+	1	0	SPRY1	124542416	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.319000	0.65835	2.481000	0.83766	0.561000	0.74099	CAT	.		0.463	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			A	124322966	C	A	124322966	3	1	30	1	0	0	0	0	1	0	0	0	15152	710	25	3	222	3	SPRY1	4	124322966	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	659094	124322966	66831310	42	4732											
HSPA4L	22824	hgsc.bcm.edu	37	4	128743939	128743939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr4:128743939C>T	ENST00000296464.4	+	15	2239	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.Q641*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.Q610*|HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.Q584*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	610					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATGATCATGCAAGATAAGTT	0.348																																					p.Q610X		.											HSPA4L,colon,carcinoma,0,1	HSPA4L	0	0			c.C1828T						.						61	62	62					4																	128743939		2203	4299	6502	SO:0001587	stop_gained	22824	exon15			ATCATGCAAGATA	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1828C>T	4.37:g.128743939C>T	ENSP00000296464:p.Gln610*	76	0		41	2	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Nonsense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	42	9.566759	0.99207	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.4186	0.90579	0.0:1.0:0.0:0.0	.	.	.	.	X	610;641;610;584	.	ENSP00000296464:Q610X	Q	+	1	0	HSPA4L	128963389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.926000	0.75835	2.596000	0.87737	0.585000	0.79938	CAA	.		0.348	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		T	128743939	C	T	128743939	4	4	30	1	0	0	0	0	0	1	0	0	7440	711	25	3	1886	3	HSPA4L	4	128743939	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	4420973	128743939	62410337	43	4733											
SETD7	80854	bcgsc.ca	37	4	140454482	140454482	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr4:140454482C>T	ENST00000274031.3	-	3	845	c.209G>A	c.(208-210)gGc>gAc	p.G70D	SETD7_ENST00000506866.2_Missense_Mutation_p.G70D|SETD7_ENST00000404104.3_Missense_Mutation_p.G70D|SETD7_ENST00000406354.1_Missense_Mutation_p.A53T	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	70					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|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)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AACTCCCTGGCCCTGCAAGGC	0.493																																					p.G70D													SETD7,colon,carcinoma,0,1	SETD7	35	0			c.G209A						.						73	64	67					4																	140454482		2203	4300	6503	SO:0001583	missense	80854	exon3			CCCTGGCCCTGCA	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"Chromatin-modifying enzymes / K-methyltransferases"	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.209G>A	4.37:g.140454482C>T	ENSP00000274031:p.Gly70Asp	74	0		63	4	NM_030648	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	CCDS3748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.95|19.95	3.922433|3.922433	0.73213|0.73213	.|.	.|.	ENSG00000145391|ENSG00000145391	ENST00000406354|ENST00000506866;ENST00000274031;ENST00000404104	.|D;D;D	.|0.93953	.|-3.32;-3.32;-3.32	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98201|0.98201	0.9405|0.9405	H|H	0.97265|0.97265	3.97|3.97	0.49299|0.49299	D|D	0.999773|0.999773	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.98951|0.98951	1.0794|1.0794	6|10	0.87932|0.87932	D|D	0|0	-25.6738|-25.6738	20.0608|20.0608	0.97674|0.97674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|70;70	.|B5MCZ8;Q8WTS6	.|.;SETD7_HUMAN	T|D	53|70	.|ENSP00000427300:G70D;ENSP00000274031:G70D;ENSP00000385913:G70D	ENSP00000384336:A53T|ENSP00000274031:G70D	A|G	-|-	1|2	0|0	SETD7|SETD7	140673932|140673932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.297000|7.297000	0.78799|0.78799	2.733000|2.733000	0.93635|0.93635	0.650000|0.650000	0.86243|0.86243	GCC|GGC	.		0.493	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		T	140454482	C	T	140454482	3	4	30	1	0	0	0	0	1	0	0	0	14181	739	26	3	915	3	SETD7	4	140454482	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	11710543	140454482	50699794	44	4734											
C4orf41	60684	hgsc.bcm.edu;bcgsc.ca	37	4	184588276	184588276	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr4:184588276G>T	ENST00000334690.6	+	4	640	c.438G>T	c.(436-438)ttG>ttT	p.L146F	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.L146F|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	146					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AAACCCCTTTGCCCCCAGGTA	0.313																																					p.L146F		.											.	.	.	0			c.G438T						.						76	83	80					4																	184588276		2203	4300	6503	SO:0001583	missense	60684	exon4			CCCTTTGCCCCCA		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.438G>T	4.37:g.184588276G>T	ENSP00000335371:p.Leu146Phe	87	0		67	4	NM_021942	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184175	0.57800	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.09	0.135	0.14775	.	0.000000	0.64402	D	0.000001	T	0.76126	0.3944	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	T	0.74290	-0.3713	9	0.39692	T	0.17	.	11.3763	0.49730	0.4723:0.0:0.5277:0.0	.	146;146	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	F	146	.	ENSP00000335371:L146F	L	+	3	2	C4orf41	184825270	0.825000	0.29262	0.997000	0.53966	0.946000	0.59487	0.005000	0.13129	-0.003000	0.14444	0.460000	0.39030	TTG	.		0.313	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		T	184588276	G	T	184588276	3	4	30	1	0	0	0	0	1	0	0	0	2277	1310	46	3	448	3	C4orf41	4	184588276	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	44133794	184588276	6566000	45	4735											
SLC9A3	6550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	488540	488540	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:488540G>T	ENST00000264938.3	-	3	575	c.566C>A	c.(565-567)gCg>gAg	p.A189E	SLC9A3_ENST00000514375.1_Missense_Mutation_p.A189E	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	189					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)			GTCCACAGCCGCCATGAGGCT	0.652																																					p.A189E		.											.	.	.	0			c.C566A						.						28	26	27					5																	488540		2200	4290	6490	SO:0001583	missense	6550	exon3			ACAGCCGCCATGA		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.566C>A	5.37:g.488540G>T	ENSP00000264938:p.Ala189Glu	74	0		169	39	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567383	0.65651	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.17054	2.3;2.3	4.64	4.64	0.57946	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.70903	2.155	0.58432	D	0.999992	D;P	0.89917	1.0;0.956	D;P	0.70227	0.968;0.779	T	0.42716	-0.9435	10	0.87932	D	0	.	17.4894	0.87699	0.0:0.0:1.0:0.0	.	189;189	E9PF67;P48764	.;SL9A3_HUMAN	E	189	ENSP00000264938:A189E;ENSP00000422983:A189E	ENSP00000264938:A189E	A	-	2	0	SLC9A3	541540	0.998000	0.40836	0.141000	0.22245	0.007000	0.05969	7.712000	0.84684	2.281000	0.76405	0.561000	0.74099	GCG	.		0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		T	488540	G	T	488540	3	4	30	1	0	0	0	0	1	0	0	0	14758	1087	38	2	1998	2	SLC9A3	5	488540	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		488540	180426720	46	4736											
EGFLAM	133584	hgsc.bcm.edu	37	5	38407067	38407067	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:38407067T>C	ENST00000354891.3	+	8	1312	c.966T>C	c.(964-966)gcT>gcC	p.A322A	EGFLAM_ENST00000322350.5_Silent_p.A322A|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.A88A	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	322					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)					CCACGGTGGCTCCCCAGCCCA	0.488																																					p.A322A	Colon(62;485 1295 3347 17454)	.											.	.	.	0			c.T966C						.						146	139	141					5																	38407067		2203	4300	6503	SO:0001819	synonymous_variant	133584	exon8			GGTGGCTCCCCAG	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.966T>C	5.37:g.38407067T>C		30	0		80	4	NM_001205301	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																			.		0.488	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		C	38407067	T	C	38407067	2	2	30	1	0	0	0	0	0	0	0	1	4980	1538	54	4		4	EGFLAM	5	38407067	Silent	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	37918527	38407067	142508193	47	4737											
HCN1	348980	hgsc.bcm.edu	37	5	45267285	45267286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:45267285_45267286insG	ENST00000303230.4	-	7	1745_1746	c.1688_1689insC	c.(1687-1689)tcafs	p.S563fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	563					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						CCACGGAAAGTGAGTAAAGACG	0.436																																					p.S563fs		.											.	.	.	0			c.1689_1690insC						.																																			SO:0001589	frameshift_variant	348980	exon7			GGAAAGTGAGTAA	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.1689dupC	5.37:g.45267286_45267286dupG	ENSP00000307342:p.Ser563fs	97	0		181	119	NM_021072		Frame_Shift_Ins	INS	ENST00000303230.4	37	CCDS3952.1																																																																																			.		0.436	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		G	45267286	-	G	45267285	7	5	30	1	0	1	1	0	0	0	0	0	7023	1683	59	0	991	0	HCN1	5	45267285	Frame_Shift_Ins	INS	-	TCGA-ZH-A8Y2-01A-11D-A417-09	6860218	45267285	135647975	48	4738											
F2RL1	2150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	76128777	76128777	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:76128777C>T	ENST00000296677.4	+	2	551	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	115					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTTACATGGCCAATCTGGCCT	0.478																																					p.A115A		.											F2RL1,NS,carcinoma,0,1	F2RL1	0	0			c.C345T						.						249	246	247					5																	76128777		2203	4300	6503	SO:0001819	synonymous_variant	2150	exon2			CATGGCCAATCTG	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.345C>T	5.37:g.76128777C>T		35	0		27	9	NM_005242	Q13317|Q13346|Q53XJ8	Silent	SNP	ENST00000296677.4	37	CCDS4033.1																																																																																			.		0.478	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			T	76128777	C	T	76128777	2	4	30	1	0	0	0	0	0	0	0	1	5360	581	21	3		3	F2RL1	5	76128777	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	30861492	76128777	104786483	49	4739											
BHMT2	23743	hgsc.bcm.edu	37	5	78376673	78376673	+	Missense_Mutation	SNP	G	G	T	rs373649954		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:78376673G>T	ENST00000255192.3	+	4	488	c.422G>T	c.(421-423)tGg>tTg	p.W141L	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	141	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTTTTGCCTGGAAAAATGTG	0.398																																					p.W141L		.											BHMT2,NS,NS,0,1	BHMT2	0	0			c.G422T						.						80	81	81					5																	78376673		2203	4300	6503	SO:0001583	missense	23743	exon4			TTGCCTGGAAAAA		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.422G>T	5.37:g.78376673G>T	ENSP00000255192:p.Trp141Leu	60	0		48	2	NM_017614	B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281463	0.23392	.	.	ENSG00000132840	ENST00000255192	T	0.10763	2.84	6.16	5.3	0.74995	Homocysteine S-methyltransferase (4);	0.089643	0.85682	D	0.000000	T	0.04861	0.0131	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34329	-0.9833	10	0.46703	T	0.11	-24.1958	7.5447	0.27759	0.2657:0.0:0.7343:0.0	.	141	Q9H2M3	BHMT2_HUMAN	L	141	ENSP00000255192:W141L	ENSP00000255192:W141L	W	+	2	0	BHMT2	78412429	1.000000	0.71417	0.961000	0.40146	0.055000	0.15305	1.980000	0.40618	1.629000	0.50426	-0.143000	0.13931	TGG	.		0.398	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		T	78376673	G	T	78376673	3	4	30	1	0	0	0	0	1	0	0	0	1428	1357	47	3	436	3	BHMT2	5	78376673	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	2247896	78376673	102538587	50	4740											
ATG10	83734	bcgsc.ca	37	5	81549163	81549163	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:81549163C>A	ENST00000282185.3	+	7	876	c.582C>A	c.(580-582)agC>agA	p.S194R	ATG10_ENST00000514253.2_Intron|ATG10_ENST00000458350.3_Missense_Mutation_p.S194R	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	194					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CATGGCTGAGCATTGTAGGGC	0.418																																					p.S194R													.	ATG10	23	0			c.C582A						.						172	148	156					5																	81549163		2203	4300	6503	SO:0001583	missense	83734	exon8			GCTGAGCATTGTA	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"APG10 autophagy 10-like (S. cerevisiae)", "ATG10 autophagy related 10 homolog (S. cerevisiae)"	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.582C>A	5.37:g.81549163C>A	ENSP00000282185:p.Ser194Arg	83	0		52	4	NM_001131028	B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	37	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898570	0.72639	.	.	ENSG00000152348	ENST00000282185;ENST00000458350	T;T	0.30448	1.53;1.53	6.07	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.47262	-0.9131	10	0.44086	T	0.13	-0.1891	7.2951	0.26389	0.0:0.7621:0.0:0.2379	.	194	Q9H0Y0	ATG10_HUMAN	R	194	ENSP00000282185:S194R;ENSP00000404938:S194R	ENSP00000282185:S194R	S	+	3	2	ATG10	81584919	0.736000	0.28164	0.915000	0.36163	0.868000	0.49771	0.987000	0.29603	1.585000	0.49928	0.655000	0.94253	AGC	.		0.418	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		A	81549163	C	A	81549163	3	1	30	1	0	0	0	0	1	0	0	0	1090	709	25	3	604	3	ATG10	5	81549163	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	3172490	81549163	99366097	51	4741											
GPR98	84059	bcgsc.ca	37	5	89969943	89969943	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:89969943G>T	ENST00000405460.2	+	23	5098	c.5002G>T	c.(5002-5004)Gca>Tca	p.A1668S	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1668					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)		ATTGGTTTCTGCAATTCCTGG	0.388																																					p.A1668S													.	GPR98	605	0			c.G5002T						.						114	108	110					5																	89969943		1899	4125	6024	SO:0001583	missense	84059	exon23			GTTTCTGCAATTC	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.5002G>T	5.37:g.89969943G>T	ENSP00000384582:p.Ala1668Ser	74	0		32	3	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837028	0.91117	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28454	1.61	5.07	4.19	0.49359	.	0.094557	0.64402	D	0.000001	T	0.45256	0.1333	L	0.59436	1.845	0.80722	D	1	D	0.52996	0.957	P	0.55871	0.786	T	0.45264	-0.9273	10	0.59425	D	0.04	.	14.1476	0.65360	0.0738:0.0:0.9262:0.0	.	1668	Q8WXG9	GPR98_HUMAN	S	1668	ENSP00000384582:A1668S	ENSP00000296619:A1668S	A	+	1	0	GPR98	90005699	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.568000	0.82369	1.251000	0.43983	0.555000	0.69702	GCA	.		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89969943	G	T	89969943	3	4	30	1	0	0	0	0	1	0	0	0	6748	1319	46	3	5092	3	GPR98	5	89969943	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	8420780	89969943	90945317	52	4742											
C5orf62	85027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	150175154	150175154	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:150175154G>A	ENST00000526627.1	+	2	1190	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	AC010441.1_ENST00000600109.1_3'UTR	NM_032947.4	NP_116565.3	Q9BZL3	SMIM3_HUMAN	small integral membrane protein 3	51						integral component of membrane (GO:0016021)											TATCGCATGCGGACTCATCCG	0.547																																					p.R51Q		.											.	.	.	0			c.G152A						.																																			SO:0001583	missense	85027	exon2			GCATGCGGACTCA	AF313413	CCDS47312.1, CCDS47312.2	5q33.1	2012-10-01	2012-10-01	2012-10-01	ENSG00000256235	ENSG00000256235			30248	protein-coding gene	gene with protein product		608324	"chromosome 5 open reading frame 62"	C5orf62		11288140	Standard	NM_032947		Approved	MSTP150, NID67	uc003lsw.3	Q9BZL3	OTTHUMG00000163646	ENST00000526627.1:c.152G>A	5.37:g.150175154G>A	ENSP00000436897:p.Arg51Gln	25	0		20	9	NM_032947	Q3MIG3|Q6ZUV4	Missense_Mutation	SNP	ENST00000526627.1	37	CCDS47312.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254915	0.59321	.	.	ENSG00000256235	ENST00000526627	.	.	.	5.11	4.24	0.50183	.	.	.	.	.	T	0.47340	0.1440	.	.	.	0.29079	N	0.882815	.	.	.	.	.	.	T	0.42816	-0.9429	4	.	.	.	.	12.2755	0.54733	0.0852:0.0:0.9148:0.0	.	.	.	.	Q	51	.	.	R	+	2	0	C5orf62	150155347	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.640000	0.74319	1.477000	0.48234	0.491000	0.48974	CGG	.		0.547	SMIM3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374647.2	NM_032947		A	150175154	G	A	150175154	3	1	30	1	0	0	0	0	1	0	0	0	2321	1116	39	1	154	1	C5orf62	5	150175154	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	60205211	150175154	30740106	53	4743											
CDHR2	54825	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	176002399	176002399	+	Nonsense_Mutation	SNP	C	C	A	rs565382865		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr5:176002399C>A	ENST00000510636.1	+	9	1014	c.740C>A	c.(739-741)tCg>tAg	p.S247*	CDHR2_ENST00000506348.1_Nonsense_Mutation_p.S247*|CDHR2_ENST00000261944.5_Nonsense_Mutation_p.S247*	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	247	Cadherin 3. {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						GAGTTTTACTCGGCCTCTGTG	0.627																																					p.S247X		.											.	.	.	0			c.C740A						.						87	84	85					5																	176002399		2203	4300	6503	SO:0001587	stop_gained	54825	exon9			TTTACTCGGCCTC	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.740C>A	5.37:g.176002399C>A	ENSP00000424565:p.Ser247*	16	0		33	14	NM_017675	A1L3U4|A6NC80|Q9NXP8	Nonsense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	36	5.709756	0.96821	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.32	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5353	6.5984	0.22687	0.0:0.7565:0.0:0.2435	.	.	.	.	X	247	.	ENSP00000261944:S247X	S	+	2	0	CDHR2	175935005	0.038000	0.19896	0.997000	0.53966	0.991000	0.79684	0.930000	0.28858	0.937000	0.37394	0.478000	0.44815	TCG	.		0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176002399	C	A	176002399	4	1	30	1	0	0	0	0	0	1	0	0	3126	893	31	2	770	2	CDHR2	5	176002399	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	25827245	176002399	4912861	54	4744											
FAM50B	26240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	3850817	3850817	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:3850817G>A	ENST00000380274.1	+	1	1198	c.772G>A	c.(772-774)Gcg>Acg	p.A258T	FAM50B_ENST00000380272.3_Missense_Mutation_p.A258T			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	258						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CATCGCCAGGGCGAGGGGCAA	0.637																																					p.A258T		.											.	.	.	0			c.G772A						.						67	56	60					6																	3850817		2203	4300	6503	SO:0001583	missense	26240	exon2			GCCAGGGCGAGGG	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.772G>A	6.37:g.3850817G>A	ENSP00000369627:p.Ala258Thr	31	0		30	8	NM_012135	Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553658	0.86231	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	4.34	0.51931	.	0.059465	0.64402	D	0.000003	T	0.57388	0.2050	M	0.64260	1.97	0.58432	D	0.999997	P	0.50272	0.933	P	0.53102	0.718	T	0.58509	-0.7624	9	0.42905	T	0.14	-24.7078	14.8117	0.70000	0.0:0.0:1.0:0.0	.	258	Q9Y247	FA50B_HUMAN	T	258	.	ENSP00000369625:A258T	A	+	1	0	FAM50B	3795816	1.000000	0.71417	0.222000	0.23844	0.806000	0.45545	5.962000	0.70364	2.430000	0.82344	0.555000	0.69702	GCG	.		0.637	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		A	3850817	G	A	3850817	3	1	30	1	0	0	0	0	1	0	0	0	5600	1203	42	3	774	3	FAM50B	6	3850817	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		3850817	167264250	55	4745											
EEF1E1	9521	hgsc.bcm.edu;bcgsc.ca	37	6	8097530	8097530	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:8097530G>T	ENST00000379715.5	-	2	314	c.258C>A	c.(256-258)tcC>tcA	p.S86S	EEF1E1-BLOC1S5_ENST00000397456.2_Silent_p.S86S|EEF1E1_ENST00000429723.2_Silent_p.S86S|EEF1E1_ENST00000507463.1_Silent_p.S86S	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	86	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CATTTTTACTGGAGTGCCCAT	0.413																																					p.S86S		.											.	.	.	0			c.C258A						.						258	233	242					6																	8097530		2203	4300	6503	SO:0001819	synonymous_variant	9521	exon2			TTTACTGGAGTGC	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.258C>A	6.37:g.8097530G>T		66	0		82	4	NM_001135650	C9JLK5|Q5THS2	Silent	SNP	ENST00000379715.5	37	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	G	0.307	-0.970418	0.02232	.	.	ENSG00000124802	ENST00000502429	.	.	.	5.62	3.85	0.44370	.	.	.	.	.	T	0.32496	0.0831	.	.	.	0.35451	D	0.795695	.	.	.	.	.	.	T	0.17653	-1.0362	4	.	.	.	-1.4441	6.0182	0.19615	0.2112:0.0:0.6559:0.1329	.	.	.	.	Q	73	.	.	P	-	2	0	EEF1E1	8042529	0.595000	0.26857	0.016000	0.15963	0.082000	0.17680	0.823000	0.27366	0.731000	0.32448	0.655000	0.94253	CCA	.		0.413	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		T	8097530	G	T	8097530	2	4	30	1	0	0	0	0	0	0	0	1	4941	1335	47	3		3	EEF1E1	6	8097530	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	4246713	8097530	163017537	56	4746											
TRIM39	56658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	30303613	30303613	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:30303613G>A	ENST00000396547.1	+	4	801	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	TRIM39_ENST00000376656.4_Missense_Mutation_p.R214Q|TRIM39_ENST00000396548.1_Missense_Mutation_p.R214Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.R214Q|TRIM39_ENST00000540416.1_Missense_Mutation_p.R214Q|TRIM39_ENST00000376659.5_Missense_Mutation_p.R214Q|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R126Q			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	214					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						TTGCTTTCACGACTGGAAGAA	0.557																																					p.R214Q		.											.	.	.	0			c.G641A						.						59	58	58					6																	30303613		1510	2709	4219	SO:0001583	missense	56658	exon5			TTTCACGACTGGA	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.641G>A	6.37:g.30303613G>A	ENSP00000379796:p.Arg214Gln	26	0		32	14	NM_172016	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.24|17.24	3.339965|3.339965	0.60963|0.60963	.|.	.|.	ENSG00000204599|ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000420746|ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	.|T;T;T;T;T;T;T;T	.|0.64803	.|3.58;0.12;3.58;-0.12;3.58;3.58;0.12;3.58	5.33|5.33	2.55|2.55	0.30701|0.30701	.|.	.|0.357077	.|0.23201	.|N	.|0.050800	T|T	0.32071|0.32071	0.0817|0.0817	L|L	0.39085|0.39085	1.19|1.19	0.09310|0.09310	N|N	1|1	.|B;D;P	.|0.53151	.|0.005;0.958;0.777	.|B;P;B	.|0.47744	.|0.001;0.556;0.411	T|T	0.13845|0.13845	-1.0494|-1.0494	5|10	.|0.14252	.|T	.|0.57	.|.	7.388|7.388	0.26893|0.26893	0.3413:0.0:0.6587:0.0|0.3413:0.0:0.6587:0.0	.|.	.|128;214;214	.|F5H2V3;Q9HCM9;Q9HCM9-2	.|.;TRI39_HUMAN;.	N|Q	144|214;214;214;214;214;128;214;214;214;214;126	.|ENSP00000379800:R214Q;ENSP00000365844:R214Q;ENSP00000439400:R214Q;ENSP00000406019:R214Q;ENSP00000379797:R214Q;ENSP00000365847:R214Q;ENSP00000379796:R214Q;ENSP00000424048:R126Q	.|ENSP00000365844:R214Q	D|R	+|+	1|2	0|0	TRIM39|TRIM39-RPP21;TRIM39	30411592|30411592	0.000000|0.000000	0.05858|0.05858	0.243000|0.243000	0.24186|0.24186	0.968000|0.968000	0.65278|0.65278	0.865000|0.865000	0.27940|0.27940	0.823000|0.823000	0.34589|0.34589	0.650000|0.650000	0.86243|0.86243	GAC|CGA	.		0.557	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		A	30303613	G	A	30303613	3	1	30	1	0	0	0	0	1	0	0	0	16561	1058	37	1	651	1	TRIM39	6	30303613	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	22206083	30303613	140811454	57	4747											
HLA-B	3106	hgsc.bcm.edu	37	6	31324018	31324018	+	Missense_Mutation	SNP	G	G	A	rs41542712		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:31324018G>A	ENST00000412585.2	-	3	573	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	182	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						CTCCAGGTAGGCTCTCCGCTG	0.697									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.A182V		.											.	.	.	0			c.C545T						.						26	19	22					6																	31324018		2148	4212	6360	SO:0001583	missense	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	AGGTAGGCTCTCC	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.545C>T	6.37:g.31324018G>A	ENSP00000399168:p.Ala182Val	29	0		57	7	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	12.33	1.905696	0.33628	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.00848	5.62;5.62	3.18	1.21	0.21127	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	1.200770	0.06721	N	0.774906	T	0.01387	0.0045	M	0.85542	2.76	0.18873	N	0.999984	P;P	0.52842	0.956;0.629	P;P	0.51415	0.669;0.504	T	0.42582	-0.9443	10	0.56958	D	0.05	.	9.2404	0.37493	0.0:0.0:0.3651:0.6349	rs41542712	182;182	P30480;P01889	1B42_HUMAN;1B07_HUMAN	V	182;61;61;193	ENSP00000399168:A182V;ENSP00000405931:A193V	ENSP00000399168:A182V	A	-	2	0	HLA-B	31431997	0.000000	0.05858	0.047000	0.18901	0.021000	0.10359	-0.587000	0.05780	0.136000	0.18733	0.297000	0.19635	GCC	0.001		0.697	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31324018	G	A	31324018	3	1	30	1	0	0	0	0	1	0	0	0	7223	1203	42	3	563	3	HLA-B	6	31324018	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	1020405	31324018	139791049	58	4748											
HLA-DMA	3108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	32918505	32918505	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:32918505G>T	ENST00000374843.4	-	2	249	c.164C>A	c.(163-165)cCc>cAc	p.P55H	HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.P55H|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	55	Alpha-1.				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						TCCCACACTGGGACTCCCATC	0.557																																					p.P55H		.											.	.	.	0			c.C164A						.						114	118	117					6																	32918505		1508	2708	4216	SO:0001583	missense	3108	exon2			ACACTGGGACTCC		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.164C>A	6.37:g.32918505G>T	ENSP00000363976:p.Pro55His	20	0		25	11	NM_006120	Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907340	0.52333	.	.	ENSG00000204257	ENST00000395303;ENST00000374843;ENST00000456800;ENST00000422832;ENST00000341486	T;T;T;T	0.00976	5.48;5.48;5.48;5.48	5.53	5.53	0.82687	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);	0.215479	0.49305	D	0.000150	T	0.02012	0.0063	L	0.47190	1.495	0.38740	D	0.953861	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.61792	-0.6990	10	0.87932	D	0	.	14.8363	0.70187	0.0:0.0:1.0:0.0	.	55;55	P28067;Q31604	DMA_HUMAN;.	H	55;55;85;22;47	ENSP00000378714:P55H;ENSP00000363976:P55H;ENSP00000409668:P85H;ENSP00000403122:P22H	ENSP00000345804:P47H	P	-	2	0	HLA-DMA	33026483	0.983000	0.35010	0.335000	0.25508	0.263000	0.26337	4.510000	0.60455	2.885000	0.99019	0.643000	0.83706	CCC	.		0.557	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		T	32918505	G	T	32918505	3	4	30	1	0	0	0	0	1	0	0	0	7225	1232	43	3	637	3	HLA-DMA	6	32918505	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	1594487	32918505	138196562	59	4749											
KCNK17	89822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	39278778	39278778	+	Silent	SNP	G	G	A	rs368724952		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:39278778G>A	ENST00000373231.4	-	2	475	c.243C>T	c.(241-243)gtC>gtT	p.V81V	KCNK17_ENST00000453413.2_Silent_p.V81V	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	81					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						ATGCTTGGACGACATCCTGGG	0.557																																					p.V81V		.											.	.	.	0			c.C243T						.						118	109	112					6																	39278778		2203	4300	6503	SO:0001819	synonymous_variant	89822	exon2			TTGGACGACATCC	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.243C>T	6.37:g.39278778G>A		27	0		30	4	NM_001135111	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Silent	SNP	ENST00000373231.4	37	CCDS4842.1																																																																																			.		0.557	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		A	39278778	G	A	39278778	2	1	30	1	0	0	0	0	0	0	0	1	8091	1045	37	1		1	KCNK17	6	39278778	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	6360273	39278778	131836289	60	4750											
KIAA1586	57691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	56918360	56918360	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:56918360G>C	ENST00000370733.4	+	4	1270	c.1063G>C	c.(1063-1065)Gtg>Ctg	p.V355L	KIAA1586_ENST00000545356.1_Missense_Mutation_p.V328L	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	355							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)			AAAAGAATTGGTGTCAACTAT	0.323																																					p.V355L		.											.	.	.	0			c.G1063C						.						120	123	122					6																	56918360		2203	4299	6502	SO:0001583	missense	57691	exon4			GAATTGGTGTCAA	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.1063G>C	6.37:g.56918360G>C	ENSP00000359768:p.Val355Leu	73	0		65	27	NM_020931	A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.022460	0.00414	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.21932	1.98;1.98	3.58	1.66	0.24008	Ribonuclease H-like (1);	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.17722	0.019;0.019	T	0.46665	-0.9175	9	0.25751	T	0.34	.	6.1401	0.20255	0.0:0.2097:0.5739:0.2163	.	328;355	F5H2N6;Q9HCI6	.;K1586_HUMAN	L	355;328	ENSP00000359768:V355L;ENSP00000445507:V328L	ENSP00000359768:V355L	V	+	1	0	KIAA1586	57026319	0.961000	0.32948	0.020000	0.16555	0.071000	0.16799	0.291000	0.18994	0.265000	0.21872	-0.293000	0.09583	GTG	.		0.323	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		C	56918360	G	C	56918360	3	2	30	1	0	0	0	0	1	0	0	0	8272	1261	44	5	1077	5	KIAA1586	6	56918360	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	17639582	56918360	114196707	61	4751											
BAI3	577	hgsc.bcm.edu	37	6	69665993	69665993	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:69665993C>T	ENST00000370598.1	+	7	2094	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	425	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				GCAGAGAAGCCGGCAGTGCAC	0.537																																					p.R425W		.											BAI3,colon,carcinoma,0,1	BAI3	0	0			c.C1273T						.						83	74	77					6																	69665993		2203	4300	6503	SO:0001583	missense	577	exon7			AGAAGCCGGCAGT	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.1273C>T	6.37:g.69665993C>T	ENSP00000359630:p.Arg425Trp	40	0		11	2	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304431	0.60305	.	.	ENSG00000135298	ENST00000370598	T	0.65732	-0.17	5.71	2.62	0.31277	.	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91683	0.5360	10	0.87932	D	0	.	15.8653	0.79060	0.6098:0.3902:0.0:0.0	.	425	O60242	BAI3_HUMAN	W	425	ENSP00000359630:R425W	ENSP00000359630:R425W	R	+	1	2	BAI3	69722714	0.967000	0.33354	0.996000	0.52242	0.589000	0.36550	0.521000	0.22893	0.705000	0.31890	0.591000	0.81541	CGG	.		0.537	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			T	69665993	C	T	69665993	3	4	30	1	0	0	0	0	1	0	0	0	1301	643	23	1	1291	1	BAI3	6	69665993	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	12747633	69665993	101449074	62	4752											
TULP4	56995	hgsc.bcm.edu	37	6	158924680	158924680	+	Missense_Mutation	SNP	C	C	T	rs200432004		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:158924680C>T	ENST00000367097.3	+	13	5342	c.3985C>T	c.(3985-3987)Cgg>Tgg	p.R1329W	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1329					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)		AGTCCCCCAGCGGACAGAAAA	0.567																																					p.R1329W		.											TULP4,NS,malignant_melanoma,0,1	TULP4	0	0			c.C3985T						.						43	48	47					6																	158924680		2203	4300	6503	SO:0001583	missense	56995	exon13			CCCCAGCGGACAG		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.3985C>T	6.37:g.158924680C>T	ENSP00000356064:p.Arg1329Trp	61	0		69	3	NM_020245	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156641	0.57259	.	.	ENSG00000130338	ENST00000367097	T	0.66638	-0.22	5.7	0.809	0.18725	.	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	P	0.62435	0.902	T	0.77284	-0.2645	10	0.87932	D	0	-34.4639	17.6151	0.88065	0.5299:0.4701:0.0:0.0	.	1329	Q9NRJ4	TULP4_HUMAN	W	1329	ENSP00000356064:R1329W	ENSP00000356064:R1329W	R	+	1	2	TULP4	158844668	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	1.024000	0.30077	0.195000	0.20347	-0.314000	0.08810	CGG	.		0.567	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		T	158924680	C	T	158924680	3	4	30	1	0	0	0	0	1	0	0	0	16825	759	27	1	4035	1	TULP4	6	158924680	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	89258687	158924680	12190387	63	4753											
T	6862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	166580132	166580132	+	Missense_Mutation	SNP	G	G	A	rs368969464		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr6:166580132G>A	ENST00000296946.2	-	3	887	c.419C>T	c.(418-420)cCc>cTc	p.P140L	T_ENST00000366871.3_Missense_Mutation_p.P140L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	140					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)		GAAGGAGACGGGAGCCTTCAT	0.682									Chordoma, Familial Clustering of																												p.P140L		.											.	.	.	0			c.C419T						.	G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	57	65	62		419	4.6	1	6		62	0,8600		0,0,4300	no	missense	T	NM_003181.2	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	140/436	166580132	2,13004	2203	4300	6503	SO:0001583	missense	6862	exon3	Familial Cancer Database		GAGACGGGAGCCT	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.419C>T	6.37:g.166580132G>A	ENSP00000296946:p.Pro140Leu	27	0		27	7	NM_003181	E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032784	0.75504	4.54E-4	0.0	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.87729	-2.29;-2.29;-2.29	4.61	4.61	0.57282	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.124816	0.53938	D	0.000052	D	0.89553	0.6748	M	0.82132	2.575	0.80722	D	1	P;D;P	0.53151	0.758;0.958;0.84	P;P;P	0.57283	0.662;0.817;0.817	D	0.87639	0.2521	10	0.19147	T	0.46	.	16.8251	0.85929	0.0:0.0:1.0:0.0	.	140;140;140	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	L	140	ENSP00000355841:P140L;ENSP00000296946:P140L;ENSP00000355836:P140L	ENSP00000296946:P140L	P	-	2	0	T	166500122	1.000000	0.71417	0.957000	0.39632	0.919000	0.55068	7.165000	0.77544	2.276000	0.75962	0.655000	0.94253	CCC	.		0.682	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		A	166580132	G	A	166580132	3	1	30	1	0	0	0	0	1	0	0	0	15535	1232	43	3	916	3	T	6	166580132	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	7655452	166580132	4534935	64	4754											
RSPH10B	222967	broad.mit.edu;bcgsc.ca	37	7	6006556	6006556	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr7:6006556A>G	ENST00000405415.1	-	2	578	c.192T>C	c.(190-192)gtT>gtC	p.V64V	RSPH10B_ENST00000404406.1_Silent_p.V64V|RSPH10B_ENST00000337579.3_Silent_p.V64V|RSPH10B_ENST00000441023.2_Silent_p.V64V			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	64										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		CGTTCTGCTGAACGTTTTGGC	0.493																																					p.V64V													RSPH10B,NS,carcinoma,-2,1	RSPH10B	28	0			c.T192C						.						187	131	151					7																	6006556		2090	3790	5880	SO:0001819	synonymous_variant	222967	exon3			CTGCTGAACGTTT		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.192T>C	7.37:g.6006556A>G		103	0		111	15	NM_173565	A6NMW7|Q86ST9|Q8NE68	Silent	SNP	ENST00000405415.1	37	CCDS34598.1																																																																																			.		0.493	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		G	6006556	A	G	6006556	2	3	30	1	0	0	0	0	0	0	0	1	13748	233	9	4		4	RSPH10B	7	6006556	Silent	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09		6006556	153132107	65	4755											
AIMP2	7965	hgsc.bcm.edu;bcgsc.ca	37	7	6062935	6062935	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr7:6062935G>T	ENST00000223029.3	+	4	695	c.576G>T	c.(574-576)gtG>gtT	p.V192V	AIMP2_ENST00000400479.2_Splice_Site_p.V114V|EIF2AK1_ENST00000199389.6_3'UTR|AIMP2_ENST00000395236.2_Splice_Site_p.V123V	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	192	Interaction with TP53.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCTTTTCAGTGCCGAAGACGC	0.517																																					p.V192V		.											.	.	.	0			c.G576T						.						79	75	76					7																	6062935		2203	4300	6503	SO:0001630	splice_region_variant	7965	exon4			TTCAGTGCCGAAG	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.575-1G>T	7.37:g.6062935G>T		42	0		62	4	NM_006303	Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	CCDS5344.1																																																																																			.		0.517	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303	Silent	T	6062935	G	T	6062935	5	4	30	1	0	0	0	0	0	0	1	0	434	1333	46	3	590	3	AIMP2	7	6062935	Splice_Site	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	56379	6062935	153075728	66	4756											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44806150	44806150	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr7:44806150T>C	ENST00000309315.4	+	18	2666	c.2543T>C	c.(2542-2544)tTg>tCg	p.L848S	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L822S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L816S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L848S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L790S|ZMIZ2_ENST00000463931.1_3'UTR	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	848	Pro-rich.				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						CGGCAGTCCTTGGGCCAAGCG	0.652																																					p.L848S	NSCLC(20;604 852 1948 16908 50522)	.											.	.	.	0			c.T2543C						.						51	56	54					7																	44806150		1891	4125	6016	SO:0001583	missense	83637	exon18			AGTCCTTGGGCCA	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.2543T>C	7.37:g.44806150T>C	ENSP00000311778:p.Leu848Ser	60	0		91	3	NM_031449	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	T	7.083	0.570528	0.13560	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.30182	1.57;1.54;1.54;1.54;1.56	5.19	5.19	0.71726	.	0.131614	0.32608	N	0.005876	T	0.21145	0.0509	L	0.29908	0.895	0.40183	D	0.977316	B;P;P;P	0.39940	0.032;0.696;0.57;0.552	B;B;B;B	0.38264	0.017;0.253;0.269;0.253	T	0.04255	-1.0965	10	0.09084	T	0.74	-6.6835	13.4454	0.61138	0.0:0.0:0.0:1.0	.	471;822;848;790	B3KR25;Q8NF64-2;Q8NF64;Q8NF64-3	.;.;ZMIZ2_HUMAN;.	S	790;848;848;816;822;851	ENSP00000409648:L790S;ENSP00000311778:L848S;ENSP00000414723:L848S;ENSP00000396601:L816S;ENSP00000265346:L822S	ENSP00000265346:L822S	L	+	2	0	ZMIZ2	44772675	0.972000	0.33761	1.000000	0.80357	0.956000	0.61745	3.086000	0.50159	2.184000	0.69523	0.460000	0.39030	TTG	.		0.652	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		C	44806150	T	C	44806150	3	2	30	1	0	0	0	0	1	0	0	0	17745	1821	63	4	2609	4	ZMIZ2	7	44806150	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	38743215	44806150	114332513	67	4757											
DGKI	9162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	137150763	137150763	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr7:137150763T>C	ENST00000288490.5	-	27	2527	c.2527A>G	c.(2527-2529)Atg>Gtg	p.M843V	DGKI_ENST00000424189.2_Missense_Mutation_p.M856V|DGKI_ENST00000453654.2_Missense_Mutation_p.M553V|DGKI_ENST00000446122.1_Missense_Mutation_p.M825V	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	843					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						GAAATCTCCATCACAAAGTGC	0.448																																					p.M843V		.											.	.	.	0			c.A2527G						.						70	73	72					7																	137150763		2203	4300	6503	SO:0001583	missense	9162	exon27			TCTCCATCACAAA	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.2527A>G	7.37:g.137150763T>C	ENSP00000288490:p.Met843Val	49	0		45	17	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.573588	0.28092	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.30981	2.06;1.51;1.7	5.82	5.82	0.92795	.	0.140824	0.64402	D	0.000004	T	0.14614	0.0353	N	0.02539	-0.55	0.41919	D	0.990503	B;B	0.09022	0.0;0.002	B;B	0.08055	0.002;0.003	T	0.15578	-1.0432	10	0.20519	T	0.43	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	553;843	E9PFX6;O75912	.;DGKI_HUMAN	V	553;801;846;843;825	ENSP00000392161:M553V;ENSP00000288490:M843V;ENSP00000399131:M825V	ENSP00000288490:M843V	M	-	1	0	DGKI	136801303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.335000	0.79234	2.234000	0.73211	0.533000	0.62120	ATG	.		0.448	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		C	137150763	T	C	137150763	3	2	30	1	0	0	0	0	1	0	0	0	4485	1435	50	4	702	4	DGKI	7	137150763	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	92344613	137150763	21987900	68	4758											
MGAM	8972	hgsc.bcm.edu	37	7	141794453	141794453	+	Splice_Site	SNP	A	A	T	rs202001107	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr7:141794453A>T	ENST00000549489.2	+	39	4747	c.4652A>T	c.(4651-4653)tAt>tTt	p.Y1551F	MGAM_ENST00000475668.2_Splice_Site_p.Y2447F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1551	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)	GGCATATCCTATGTGAGTGTC	0.527													a|||	8	0.00159744	0.0061	0	5008	,	,		17903	0		0	False		,,,				2504	0				p.Y1551F		.											MGAM_ENST00000549489,NS,carcinoma,0,3	MGAM_ENST00000549489	0	0			c.A4652T						.						120	108	112					7																	141794453		2075	4202	6277	SO:0001630	splice_region_variant	8972	exon39			TATCCTATGTGAG	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.4653+1A>T	7.37:g.141794453A>T		41	2		60	3	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045439	0.55110	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.93859	-3.3	5.15	3.98	0.46160	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.91143	0.7211	L	0.28400	0.85	0.36228	D	0.852428	P	0.46706	0.883	P	0.50825	0.651	D	0.91753	0.5414	9	0.51188	T	0.08	.	10.8375	0.46696	0.8585:0.0:0.0:0.1415	.	1551	O43451	MGA_HUMAN	F	1551;2448	ENSP00000447378:Y1551F	ENSP00000373973:Y1551F	Y	+	2	0	MGAM	141440922	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	7.065000	0.76727	0.878000	0.35920	0.533000	0.62120	TAT	.		0.527	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Missense_Mutation	T	141794453	A	T	141794453	5	4	30	1	0	0	0	0	0	0	1	0	9579	463	16	5	4802	5	MGAM	7	141794453	Splice_Site	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	4643690	141794453	17344210	69	4759											
MLL3	58508	hgsc.bcm.edu	37	7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr7:151921114A>T	ENST00000262189.6	-	20	3527	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C1103*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1103					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.C1103*(10)									CACATTGTCTACATTGCAGAA	0.338																																					p.C1103X		.											MLL3_ENST00000355193,NS,carcinoma,0,10	MLL3_ENST00000355193	0	10	Substitution - Nonsense(10)	kidney(6)|endometrium(4)	c.T3309A						.						56	51	52					7																	151921114		2203	4300	6503	SO:0001587	stop_gained	58508	exon20			TTGTCTACATTGC	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.3309T>A	7.37:g.151921114A>T	ENSP00000262189:p.Cys1103*	89	1		98	5	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	41	8.814636	0.98964	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	-2.79	0.05841	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2367	0.59972	0.4373:0.0:0.5627:0.0	rs4024337	.	.	.	X	1103	.	ENSP00000262189:C1103X	C	-	3	2	MLL3	151552047	0.735000	0.28153	0.983000	0.44433	0.992000	0.81027	-0.154000	0.10130	-0.431000	0.07307	0.528000	0.53228	TGT	.		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151921114	A	T	151921114	4	4	30	1	0	0	0	0	0	1	0	0	9660	389	14	5	11586	5	MLL3	7	151921114	Nonsense_Mutation	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	10126661	151921114	7217549	70	4760											
EPPK1	83481	hgsc.bcm.edu	37	8	144940742	144940742	+	Missense_Mutation	SNP	G	G	A	rs549060166	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr8:144940742G>A	ENST00000525985.1	-	2	6751	c.6680C>T	c.(6679-6681)gCg>gTg	p.A2227V				P58107	EPIPL_HUMAN	epiplakin 1	2227						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)			CAGGACGCCCGCGATGCAGCT	0.677													G|||	3	0.000599042	0.0023	0	5008	,	,		61066	0		0	False		,,,				2504	0				p.A2227V		.											.	.	.	0			c.C6680T						.																																			SO:0001583	missense	83481	exon1			ACGCCCGCGATGC	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.6680C>T	8.37:g.144940742G>A	ENSP00000436337:p.Ala2227Val	43	0		70	5	NM_031308	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.489922	0.96339	.	.	ENSG00000227184	ENST00000525985	T	0.74526	-0.85	4.67	4.67	0.58626	.	.	.	.	.	D	0.86936	0.6053	M	0.84433	2.695	0.47778	D	0.999511	D	0.89917	1.0	D	0.97110	1.0	D	0.88471	0.3062	9	0.56958	D	0.05	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2227	E9PPU0	.	V	2227	ENSP00000436337:A2227V	ENSP00000436337:A2227V	A	-	2	0	EPPK1	145012730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.474000	0.73578	2.420000	0.82092	0.591000	0.81541	GCG	.		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940742	G	A	144940742	3	1	30	1	0	0	0	0	1	0	0	0	5206	1087	38	1	586	1	EPPK1	8	144940742	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		144940742	1423280	71	4761											
RECQL4	9401	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	145739898	145739898	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr8:145739898C>T	ENST00000428558.2	-	10	1673	c.1632G>A	c.(1630-1632)ctG>ctA	p.L544L	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	544	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	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)			GACACGGTGGCAGGCCAGACA	0.627			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																												p.L544L		.	yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	RecQ protein-like 4		M	.	.	.	0			c.G1632A						.						36	39	38					8																	145739898		2086	4199	6285	SO:0001819	synonymous_variant	9401	exon10	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	CGGTGGCAGGCCA	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1632G>A	8.37:g.145739898C>T		27	0		31	16	NM_004260	Q3Y424|Q96DW2|Q96F55	Silent	SNP	ENST00000428558.2	37																																																																																				.		0.627	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004260		T	145739898	C	T	145739898	2	4	30	1	0	0	0	0	0	0	0	1	13247	697	25	3		3	RECQL4	8	145739898	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	799156	145739898	624124	72	4762											
SECISBP2	79048	bcgsc.ca	37	9	91943787	91943787	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr9:91943787G>T	ENST00000375807.3	+	5	858	c.787G>T	c.(787-789)Gca>Tca	p.A263S	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A190S|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A195S|SECISBP2_ENST00000470305.1_3'UTR	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	263					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAAACCAGCTGCAGTGTTATC	0.388																																					p.A263S													.	SECISBP2	64	0			c.G787T						.						46	45	45					9																	91943787		2203	4300	6503	SO:0001583	missense	79048	exon5			CCAGCTGCAGTGT	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.787G>T	9.37:g.91943787G>T	ENSP00000364965:p.Ala263Ser	42	0		19	3	NM_024077	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	9.780	1.174949	0.21704	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.71698	-0.59;-0.59;-0.59;0.98	4.97	-0.53	0.11898	.	0.819737	0.10820	N	0.630581	T	0.47469	0.1447	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.32467	0.255;0.255;0.372;0.255;0.372	B;B;B;B;B	0.30855	0.057;0.039;0.121;0.039;0.085	T	0.30060	-0.9991	10	0.14252	T	0.57	-0.0076	6.2299	0.20728	0.1778:0.4565:0.3657:0.0	.	283;262;190;263;195	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	S	263;283;190;195;98	ENSP00000364965:A263S;ENSP00000364959:A190S;ENSP00000436650:A195S;ENSP00000414288:A98S	ENSP00000364959:A190S	A	+	1	0	SECISBP2	91133607	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.178000	0.09782	0.076000	0.16826	0.460000	0.39030	GCA	.		0.388	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		T	91943787	G	T	91943787	3	4	30	1	0	0	0	0	1	0	0	0	14051	1319	46	3	805	3	SECISBP2	9	91943787	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		91943787	49269644	73	4763											
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	114192870	114192870	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr9:114192870A>G	ENST00000338205.5	-	8	1106	c.887T>C	c.(886-888)aTg>aCg	p.M296T	KIAA0368_ENST00000259335.4_Missense_Mutation_p.M474T			Q5VYK3	ECM29_HUMAN	KIAA0368	302					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)				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						CACCTTGTACATCTTATTAAT	0.353																																					p.M474T		.											.	.	.	0			c.T1421C						.						130	126	127					9																	114192870		1841	4090	5931	SO:0001583	missense	23392	exon10			TTGTACATCTTAT	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.887T>C	9.37:g.114192870A>G	ENSP00000339889:p.Met296Thr	43	0		22	8	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	A	16.58	3.162352	0.57368	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.47177	0.85	5.56	5.56	0.83823	Armadillo-type fold (1);	0.044186	0.85682	D	0.000000	T	0.46268	0.1384	L	0.40543	1.245	0.80722	D	1	B	0.31413	0.322	B	0.37267	0.245	T	0.49457	-0.8938	10	0.87932	D	0	.	15.7077	0.77598	1.0:0.0:0.0:0.0	.	302	Q5VYK3	ECM29_HUMAN	T	296;474	ENSP00000259335:M474T	ENSP00000259335:M474T	M	-	2	0	KIAA0368	113232691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.405000	0.90213	2.103000	0.63969	0.460000	0.39030	ATG	.		0.353	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		G	114192870	A	G	114192870	3	3	30	1	0	0	0	0	1	0	0	0	8198	217	8	4	4800	4	KIAA0368	9	114192870	Missense_Mutation	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	22249083	114192870	27020561	74	4764											
C10orf140	387640	broad.mit.edu	37	10	21805720	21805720	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:21805720A>G	ENST00000449193.2	-	4	3284	c.1032T>C	c.(1030-1032)caT>caC	p.H344H	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Silent_p.H265H	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	263	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtgatggtggtggt	0.716																																					p.H344H													.	.	.	0			c.T1032C						.						4	6	5					10																	21805720		1658	3602	5260	SO:0001819	synonymous_variant	387640	exon4			GTGGTGATGGTGG	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.1032T>C	10.37:g.21805720A>G		21	0		17	3	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																			.		0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		G	21805720	A	G	21805720	2	3	30	1	0	0	0	0	0	0	0	1	1600	330	12	4		4	C10orf140	10	21805720	Silent	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09		21805720	113729027	75	4765											
ARHGAP21	57584	hgsc.bcm.edu;bcgsc.ca	37	10	24889838	24889838	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:24889838G>A	ENST00000396432.2	-	14	3355	c.2869C>T	c.(2869-2871)Cca>Tca	p.P957S	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P744S|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	956	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGTTTCCATGGCCGAATACTT	0.433																																					p.P957S		.											.	.	.	0			c.C2869T						.						99	95	96					10																	24889838		2203	4300	6503	SO:0001583	missense	57584	exon14			TCCATGGCCGAAT	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.2869C>T	10.37:g.24889838G>A	ENSP00000379709:p.Pro957Ser	84	0		81	4	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818963	0.50633	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.105833	0.64402	D	0.000004	T	0.49575	0.1565	N	0.00605	-1.335	0.43953	D	0.996621	P;P	0.37731	0.607;0.455	B;P	0.44647	0.42;0.456	T	0.61187	-0.7113	10	0.23302	T	0.38	.	19.3804	0.94530	0.0:0.0:1.0:0.0	.	947;956	F8W9U9;Q5T5U3	.;RHG21_HUMAN	S	957;744;947;957;792	ENSP00000379709:P957S;ENSP00000365604:P744S;ENSP00000365592:P947S;ENSP00000405018:P957S	ENSP00000365604:P744S	P	-	1	0	ARHGAP21	24929844	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	4.505000	0.60421	2.571000	0.86741	0.655000	0.94253	CCA	.		0.433	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		A	24889838	G	A	24889838	3	1	30	1	0	0	0	0	1	0	0	0	871	1203	42	3	3059	3	ARHGAP21	10	24889838	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	3084118	24889838	110644909	76	4766											
C10orf128	170371	broad.mit.edu	37	10	50396360	50396360	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:50396360G>A	ENST00000474718.1	-	1	44	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	C10orf128_ENST00000374148.1_Silent_p.L8L|C10orf128_ENST00000374153.2_Silent_p.L8L|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374151.3_Silent_p.L8L	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	8						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						AGGATCCTCAGCATGCTGACC	0.652																																					p.L8L													.	C10orf128	20	0			c.C22T						.						50	52	52					10																	50396360		1951	4143	6094	SO:0001819	synonymous_variant	170371	exon1			TCCTCAGCATGCT	BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.22C>T	10.37:g.50396360G>A		10	0		9	3	NM_001010863	A6XND2|Q5T289|Q5T291	Silent	SNP	ENST00000474718.1	37	CCDS41519.1																																																																																			.		0.652	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047978.1	NM_001010863		A	50396360	G	A	50396360	2	1	30	1	0	0	0	0	0	0	0	1	1597	962	34	3		3	C10orf128	10	50396360	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	25506522	50396360	85138387	77	4767											
PPA1	5464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	71978550	71978550	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:71978550T>C	ENST00000373232.3	-	3	246	c.147A>G	c.(145-147)gaA>gaG	p.E49E	PPA1_ENST00000495346.1_5'UTR|PPA1_ENST00000608321.1_Silent_p.E49E	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	49					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						AGCGTGGTACTTCAACTACCA	0.393																																					p.E49E		.											.	.	.	0			c.A147G						.						96	82	87					10																	71978550		2203	4300	6503	SO:0001819	synonymous_variant	5464	exon3			TGGTACTTCAACT	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.147A>G	10.37:g.71978550T>C		43	0		38	6	NM_021129	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Silent	SNP	ENST00000373232.3	37	CCDS7299.1																																																																																			.		0.393	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		C	71978550	T	C	71978550	2	2	30	1	0	0	0	0	0	0	0	1	12325	1606	56	4		4	PPA1	10	71978550	Silent	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	21582190	71978550	63556197	78	4768											
SNCG	6623	hgsc.bcm.edu;bcgsc.ca	37	10	88718478	88718478	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:88718478C>A	ENST00000372017.3	+	1	66	c.24C>A	c.(22-24)ttC>ttA	p.F8L	MMRN2_ENST00000372027.5_5'Flank|SNCG_ENST00000348795.4_Missense_Mutation_p.F8L	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	8					adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						AGAAGGGCTTCTCCATCGCCA	0.612																																					p.F8L		.											.	.	.	0			c.C24A						.						80	71	74					10																	88718478		2203	4300	6503	SO:0001583	missense	6623	exon1			GGGCTTCTCCATC	AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"synoretin"	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.24C>A	10.37:g.88718478C>A	ENSP00000361087:p.Phe8Leu	43	0		69	4	NM_003087	O15104|Q96P61	Missense_Mutation	SNP	ENST00000372017.3	37	CCDS7380.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366638	0.61513	.	.	ENSG00000173267	ENST00000348795;ENST00000372017	D;D	0.82526	-1.62;-1.62	5.62	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	L	0.49126	1.545	0.45634	D	0.998565	P	0.42296	0.775	P	0.46758	0.526	T	0.75326	-0.3357	10	0.23302	T	0.38	-19.5449	7.8031	0.29187	0.0:0.7574:0.0:0.2426	.	8	O76070	SYUG_HUMAN	L	8	ENSP00000344658:F8L;ENSP00000361087:F8L	ENSP00000344658:F8L	F	+	3	2	SNCG	88708458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.555000	0.36277	1.388000	0.46506	0.555000	0.69702	TTC	.		0.612	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049167.1			A	88718478	C	A	88718478	3	1	30	1	0	0	0	0	1	0	0	0	14888	912	32	3	26	3	SNCG	10	88718478	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	16739928	88718478	46816269	79	4769											
C10orf116	10974	ucsc.edu	37	10	88730012	88730012	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:88730012G>A	ENST00000372013.3	+	2	470	c.117G>A	c.(115-117)ggG>ggA	p.G39G	ADIRF-AS1_ENST00000609111.1_RNA|ADIRF-AS1_ENST00000440490.1_RNA|ADIRF-AS1_ENST00000418273.2_RNA|RP11-96C23.15_ENST00000609363.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor	39					cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CAGAGGCGGGGCAGAAAGGTC	0.677																																					p.G39G													.	.	.	0			c.G117A						.						20	26	24					10																	88730012		2163	4244	6407	SO:0001819	synonymous_variant	119385	exon2			GGCGGGGCAGAAA	BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"adipose specific 2", "adipose most abundant gene transcript 2", "adipogenesis factor rich in obesity"		"chromosome 10 open reading frame 116"	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.117G>A	10.37:g.88730012G>A		25	0		29	4	NM_006829		Silent	SNP	ENST00000372013.3	37	CCDS7381.1																																																																																			.		0.677	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049194.1	NM_006829		A	88730012	G	A	88730012	2	1	30	1	0	0	0	0	0	0	0	1	1591	1190	42	3		3	C10orf116	10	88730012	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	11534	88730012	46804735	80	4770											
FAM35A	54537	broad.mit.edu	37	10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:88911830C>A	ENST00000298784.1	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.T240K	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)												FAM35A,NS,carcinoma,0,3	FAM35A	48	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C719A						.						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	214	1		219	4	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	.		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		A	88911830	C	A	88911830	3	1	30	1	0	0	0	0	1	0	0	0	5575	478	17	3	721	3	FAM35A	10	88911830	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	181818	88911830	46622917	81	4771											
ADAM12	8038	hgsc.bcm.edu	37	10	127806650	127806650	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:127806650G>T	ENST00000368679.4	-	6	878	c.569C>A	c.(568-570)gCa>gAa	p.A190E	ADAM12_ENST00000368676.4_Missense_Mutation_p.A190E	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	190					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)		CACATTCTTTGCAGCGAGGTT	0.478																																					p.A190E		.											ADAM12_ENST00000368679,colon,carcinoma,0,3	ADAM12_ENST00000368679	0	0			c.C569A						.						246	215	225					10																	127806650		2203	4300	6503	SO:0001583	missense	8038	exon6			TTCTTTGCAGCGA	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.569C>A	10.37:g.127806650G>T	ENSP00000357668:p.Ala190Glu	46	0		44	2	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	7.813	0.716218	0.15306	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21361	4.79;2.01;3.72	4.89	-3.62	0.04543	.	1.354340	0.05027	N	0.473950	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.30542	0.187;0.284;0.284;0.141;0.282	B;B;B;B;B	0.27076	0.021;0.047;0.047;0.076;0.032	T	0.19063	-1.0317	10	0.02654	T	1	.	2.1993	0.03919	0.505:0.1107:0.1597:0.2247	.	187;187;190;187;190	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	E	190;190;187	ENSP00000357668:A190E;ENSP00000357665:A190E;ENSP00000391268:A187E	ENSP00000357665:A190E	A	-	2	0	ADAM12	127796640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.244000	0.08903	-0.571000	0.06014	-0.137000	0.14449	GCA	.		0.478	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			T	127806650	G	T	127806650	3	4	30	1	0	0	0	0	1	0	0	0	236	1319	46	3	2340	3	ADAM12	10	127806650	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	38894820	127806650	7728097	82	4772											
GPR123	84435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	134940752	134940752	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr10:134940752C>A	ENST00000392607.3	+	6	853	c.417C>A	c.(415-417)agC>agA	p.S139R	GPR123_ENST00000607359.1_Missense_Mutation_p.S859R|GPR123_ENST00000392606.2_Missense_Mutation_p.S42R	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	139					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)		ACCTCGTCAGCGGAGGGGTCC	0.657																																					p.S139R		.											.	.	.	0			c.C417A						.						50	43	45					10																	134940752		2202	4299	6501	SO:0001583	missense	84435	exon6			CGTCAGCGGAGGG	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.417C>A	10.37:g.134940752C>A	ENSP00000376384:p.Ser139Arg	70	0		73	35	NM_001083909	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638869	0.29157	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.43294	0.95	3.43	-5.32	0.02722	GPCR, family 2-like (1);	0.267878	0.30260	N	0.010024	T	0.45074	0.1324	M	0.74881	2.28	0.42316	D	0.99223	B;P	0.41947	0.115;0.766	B;P	0.44860	0.136;0.462	T	0.56763	-0.7925	10	0.72032	D	0.01	-5.5554	15.4991	0.75680	0.0:0.811:0.0:0.189	.	139;859	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	R	859;139;43	ENSP00000376384:S139R	ENSP00000357566:S859R	S	+	3	2	GPR123	134790742	0.044000	0.20184	0.927000	0.36925	0.114000	0.19823	-0.916000	0.04029	-1.275000	0.02417	-2.069000	0.00389	AGC	.		0.657	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			A	134940752	C	A	134940752	3	1	30	1	0	0	0	0	1	0	0	0	6663	767	27	2	435	2	GPR123	10	134940752	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	7134102	134940752	593995	83	4773											
IFITM3	10410	hgsc.bcm.edu	37	11	320723	320723	+	Missense_Mutation	SNP	C	C	T	rs199582787	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr11:320723C>T	ENST00000399808.4	-	1	327	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	IFITM3_ENST00000602735.1_Missense_Mutation_p.V10M|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.V10M|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_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		.											IFITM3,brain,glioma,0,1	IFITM3	0	0			c.G91A						.						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	20	1		44	4	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	.		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	30	1	0	0	0	0	1	0	0	0	7555	478	17	3	318	3	IFITM3	11	320723	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09		320723	134685793	84	4774											
OR5P2	120065	hgsc.bcm.edu	37	11	7818383	7818383	+	Missense_Mutation	SNP	G	G	C	rs138967151	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr11:7818383G>C	ENST00000329434.2	-	1	137	c.107C>G	c.(106-108)tCt>tGt	p.S36C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	36						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)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGATTACCAGATAGGATGAT	0.438																																					p.S36C		.											.,7	.	68	0			c.C107G						.						56	69	65					11																	7818383		2098	4292	6390	SO:0001583	missense	120065	exon1			TTACCAGATAGGA	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.107C>G	11.37:g.7818383G>C	ENSP00000331823:p.Ser36Cys	13	1		27	2	NM_153444	Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	2.219	-0.378843	0.05000	.	.	ENSG00000183303	ENST00000329434	T	0.00454	7.32	5.5	-1.19	0.09585	.	0.725764	0.12849	N	0.434127	T	0.00210	0.0006	N	0.12961	0.28	0.09310	N	1	B	0.14438	0.01	B	0.17979	0.02	T	0.36939	-0.9727	10	0.66056	D	0.02	-19.0492	4.8352	0.13460	0.4091:0.315:0.2759:0.0	.	36	Q8WZ92	OR5P2_HUMAN	C	36	ENSP00000331823:S36C	ENSP00000331823:S36C	S	-	2	0	OR5P2	7774959	0.000000	0.05858	0.150000	0.22450	0.088000	0.18126	0.516000	0.22817	-0.068000	0.12953	0.555000	0.69702	TCT	.		0.438	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		C	7818383	G	C	7818383	3	2	30	1	0	0	0	0	1	0	0	0	11217	942	33	5	865	5	OR5P2	11	7818383	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	7497660	7818383	127188133	85	4775											
SLC22A9	114571	bcgsc.ca	37	11	63149670	63149670	+	Missense_Mutation	SNP	C	C	A	rs564236291|rs78765214|rs568732086|rs201804022	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr11:63149670C>A	ENST00000279178.3	+	6	1243	c.994C>A	c.(994-996)Caa>Aaa	p.Q332K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					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						GGAGGCAGCACAAAAAAAAAA	0.403																																					p.Q332K													.	SLC22A9	77	0			c.C994A						.						141	137	138					11																	63149670		2201	4298	6499	SO:0001583	missense	114571	exon6			GCAGCACAAAAAA	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.994C>A	11.37:g.63149670C>A	ENSP00000279178:p.Gln332Lys	88	4		94	11	NM_080866	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013677	0.35511	.	.	ENSG00000149742	ENST00000279178	T	0.57595	0.39	3.53	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.812700	0.01193	N	0.007392	T	0.29914	0.0748	N	0.04508	-0.205	0.09310	N	1	B	0.31893	0.345	B	0.37692	0.256	T	0.20240	-1.0281	10	0.09084	T	0.74	.	7.2045	0.25899	0.3046:0.2446:0.4508:0.0	.	332	Q8IVM8	S22A9_HUMAN	K	332	ENSP00000279178:Q332K	ENSP00000279178:Q332K	Q	+	1	0	SLC22A9	62906246	0.000000	0.05858	0.003000	0.11579	0.605000	0.37080	-0.027000	0.12371	-0.339000	0.08401	0.134000	0.15878	CAA	.		0.403	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		A	63149670	C	A	63149670	3	1	30	1	0	0	0	0	1	0	0	0	14506	479	17	3	1016	3	SLC22A9	11	63149670	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	55331287	63149670	71856846	86	4776											
CDC42BPG	55561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64597150	64597150	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr11:64597150C>T	ENST00000342711.5	-	30	3759	c.3760G>A	c.(3760-3762)Gag>Aag	p.E1254K	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						GGCGCAGCCTCGTTGAGCAGC	0.701																																					p.E1254K		.											.	.	.	0			c.G3760A						.						11	15	13					11																	64597150		2184	4281	6465	SO:0001583	missense	55561	exon30			CAGCCTCGTTGAG	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.3760G>A	11.37:g.64597150C>T	ENSP00000345133:p.Glu1254Lys	27	0		29	5	NM_017525		Missense_Mutation	SNP	ENST00000342711.5	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181280	0.78677	.	.	ENSG00000171219	ENST00000342711	T	0.04706	3.57	4.85	4.85	0.62838	Citron-like (2);	0.000000	0.42294	D	0.000731	T	0.20495	0.0493	M	0.72118	2.19	0.51767	D	0.999933	D	0.89917	1.0	D	0.81914	0.995	T	0.00205	-1.1922	10	0.87932	D	0	.	15.8441	0.78874	0.0:1.0:0.0:0.0	.	1254	Q6DT37	MRCKG_HUMAN	K	1254	ENSP00000345133:E1254K	ENSP00000345133:E1254K	E	-	1	0	CDC42BPG	64353726	0.910000	0.30920	0.973000	0.42090	0.293000	0.27360	1.582000	0.36568	2.440000	0.82611	0.650000	0.86243	GAG	.		0.701	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		T	64597150	C	T	64597150	3	4	30	1	0	0	0	0	1	0	0	0	3081	893	31	1	927	1	CDC42BPG	11	64597150	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	1447480	64597150	70409366	87	4777											
MAML2	84441	hgsc.bcm.edu;bcgsc.ca	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					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.Q647Q(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)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q647Q		.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,caecum,carcinoma,0,2	MAML2	0	1	Substitution - coding silent(1)	endometrium(1)	c.G1941A						.	C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGTTGT	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.1941G>A	11.37:g.95825254C>T		51	0		39	4	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825254	C	T	95825254	2	4	30	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825254	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	31228104	95825254	39181262	88	4778											
ATM	472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	108121693	108121693	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr11:108121693C>A	ENST00000452508.2	+	11	1690	c.1501C>A	c.(1501-1503)Caa>Aaa	p.Q501K	ATM_ENST00000278616.4_Missense_Mutation_p.Q501K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	501					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)	TGAGCAAATACAAGCTGAAAA	0.383			"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.Q501K		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	.	.	0			c.C1501A						.						130	142	138					11																	108121693		2201	4298	6499	SO:0001583	missense	472	exon10	Familial Cancer Database	AT, Louis-Bar syndrome	CAAATACAAGCTG	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.1501C>A	11.37:g.108121693C>A	ENSP00000388058:p.Gln501Lys	100	0		56	37	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628472	0.67015	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.53640	0.61;0.61;0.61	6.04	5.08	0.68730	Armadillo-type fold (1);	0.054764	0.64402	D	0.000001	T	0.45915	0.1366	L	0.57536	1.79	0.33907	D	0.639239	B	0.26318	0.146	B	0.24974	0.057	T	0.59231	-0.7493	10	0.62326	D	0.03	.	14.1262	0.65222	0.0:0.6909:0.3091:0.0	.	501	Q13315	ATM_HUMAN	K	501	ENSP00000435747:Q501K;ENSP00000278616:Q501K;ENSP00000388058:Q501K	ENSP00000278616:Q501K	Q	+	1	0	ATM	107626903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.480000	0.73604	2.873000	0.98535	0.561000	0.74099	CAA	.		0.383	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		A	108121693	C	A	108121693	3	1	30	1	0	0	0	0	1	0	0	0	1110	479	17	3	1535	3	ATM	11	108121693	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	12296439	108121693	26884823	89	4779											
KLRF1	51348	hgsc.bcm.edu	37	12	9985911	9985911	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:9985911T>C	ENST00000279544.3	+	3	261	c.197T>C	c.(196-198)gTa>gCa	p.V66A	KLRF1_ENST00000324214.4_Intron|KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000537723.1_Missense_Mutation_p.V66A	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	66					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						TCTCAGGGAGTATTGCTAAAA	0.348																																					p.V66A		.											.	.	.	0			c.T197C						.						93	88	89					12																	9985911		1847	4091	5938	SO:0001583	missense	51348	exon3			AGGGAGTATTGCT	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.197T>C	12.37:g.9985911T>C	ENSP00000279544:p.Val66Ala	78	0		83	4	NM_016523	Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	T	8.516	0.867688	0.17250	.	.	ENSG00000150045	ENST00000279544;ENST00000537723	T;T	0.56611	4.99;0.45	2.57	2.57	0.30868	.	.	.	.	.	T	0.35682	0.0940	L	0.29908	0.895	0.22280	N	0.999232	B;P	0.37864	0.247;0.61	B;B	0.35240	0.063;0.198	T	0.10800	-1.0614	8	.	.	.	.	7.0986	0.25323	0.0:0.0:0.0:1.0	.	66;66	Q9NZS2;Q4KN30	KLRF1_HUMAN;.	A	66	ENSP00000279544:V66A;ENSP00000443054:V66A	.	V	+	2	0	KLRF1	9877178	0.998000	0.40836	0.994000	0.49952	0.365000	0.29674	1.872000	0.39549	1.458000	0.47871	0.378000	0.23410	GTA	.		0.348	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		C	9985911	T	C	9985911	3	2	30	1	0	0	0	0	1	0	0	0	8447	1638	57	4	207	4	KLRF1	12	9985911	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09		9985911	123865984	90	4780											
SMARCD1	6602	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	50482343	50482359	+	Frame_Shift_Del	DEL	AAGTTCTCTTCCTTTTT	AAGTTCTCTTCCTTTTT	-	rs1050725		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	AAGTTCTCTTCCTTTTT	AAGTTCTCTTCCTTTTT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:50482343_50482359delAAGTTCTCTTCCTTTTT	ENST00000394963.4	+	6	1092_1108	c.694_710delAAGTTCTCTTCCTTTTT	c.(694-711)aagttctcttccttttttfs	p.KFSSFF232fs	SMARCD1_ENST00000381513.4_Frame_Shift_Del_p.KFSSFF232fs|SMARCD1_ENST00000548573.1_Frame_Shift_Del_p.KFSSFF30fs	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1									p.F194L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						ACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTG	0.415																																					p.231_237del		.											.	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.693_709del						.																																			SO:0001589	frameshift_variant	6602	exon6			AAGAGGAAGTTCT	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.694_710delAAGTTCTCTTCCTTTTT	12.37:g.50482343_50482359delAAGTTCTCTTCCTTTTT	ENSP00000378414:p.Lys232fs	49	0		36	14	NM_003076		Frame_Shift_Del	DEL	ENST00000394963.4	37	CCDS8797.2																																																																																			.		0.415	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		-	50482359	AAGTTCTCTTCCTTTTT	-	50482343	7	5	30	1	0	1	0	1	0	0	0	0	14822	247	9	0	716	0	SMARCD1	12	50482343	Frame_Shift_Del	DEL	AAGTTCTCTTCCTTTTT	TCGA-ZH-A8Y2-01A-11D-A417-09	40496432	50482343	83369552	91	4781											
KRT81	3887	hgsc.bcm.edu	37	12	52685191	52685191	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:52685191G>A	ENST00000327741.5	-	1	127	c.59C>T	c.(58-60)cCg>cTg	p.P20L	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	20	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)		GCCGGGCCGCGGCCCGCAGGC	0.692																																					p.P20L		.											.	.	.	0			c.C59T						.						14	19	17					12																	52685191		2183	4232	6415	SO:0001583	missense	3887	exon1			GGCCGCGGCCCGC	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.59C>T	12.37:g.52685191G>A	ENSP00000369349:p.Pro20Leu	40	0		84	4	NM_002281	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678965	0.68042	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	T	0.81415	-1.49	5.17	5.17	0.71159	.	0.000000	0.34338	U	0.004042	D	0.86640	0.5981	M	0.72118	2.19	0.42068	D	0.991195	D	0.89917	1.0	D	0.73380	0.98	D	0.87130	0.2196	10	0.62326	D	0.03	.	7.7965	0.29150	0.0882:0.1787:0.7331:0.0	.	20	Q14533	KRT81_HUMAN	L	20	ENSP00000369349:P20L	ENSP00000369349:P20L	P	-	2	0	KRT81	50971458	0.586000	0.26782	1.000000	0.80357	0.817000	0.46193	2.147000	0.42226	2.399000	0.81585	0.549000	0.68633	CCG	.		0.692	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		A	52685191	G	A	52685191	3	1	30	1	0	0	0	0	1	0	0	0	8522	1116	39	1	1494	1	KRT81	12	52685191	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	2202848	52685191	81166704	92	4782											
SLC39A5	283375	hgsc.bcm.edu;bcgsc.ca	37	12	56630250	56630250	+	Missense_Mutation	SNP	C	C	T	rs577350818		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:56630250C>T	ENST00000266980.4	+	7	1309	c.1016C>T	c.(1015-1017)gCc>gTc	p.A339V	SLC39A5_ENST00000454355.2_Missense_Mutation_p.A339V|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	339					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTGGGATGGCCCTTCAGCCC	0.532													C|||	1	0.000199681	0	0	5008	,	,		23406	0		0	False		,,,				2504	0.001				p.A339V		.											.	.	.	0			c.C1016T						.						121	122	122					12																	56630250		2203	4300	6503	SO:0001583	missense	283375	exon9			GGATGGCCCTTCA		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1016C>T	12.37:g.56630250C>T	ENSP00000266980:p.Ala339Val	74	0		71	4	NM_173596	B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135192	0.37728	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	4.86	3.01	0.34805	.	0.233115	0.29424	N	0.012184	T	0.28333	0.0700	L	0.27975	0.815	0.27483	N	0.952528	B	0.10296	0.003	B	0.15484	0.013	T	0.18618	-1.0331	10	0.11485	T	0.65	-2.0184	7.1339	0.25517	0.0:0.7926:0.0:0.2074	.	339	Q6ZMH5	S39A5_HUMAN	V	339	ENSP00000405360:A339V;ENSP00000266980:A339V	ENSP00000266980:A339V	A	+	2	0	SLC39A5	54916517	0.989000	0.36119	0.993000	0.49108	0.974000	0.67602	0.823000	0.27366	0.744000	0.32741	0.655000	0.94253	GCC	.		0.532	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		T	56630250	C	T	56630250	3	4	30	1	0	0	0	0	1	0	0	0	14666	739	26	3	1038	3	SLC39A5	12	56630250	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	3945059	56630250	77221645	93	4783											
AGAP2	116986	hgsc.bcm.edu	37	12	58131312	58131312	+	Missense_Mutation	SNP	C	C	T	rs561812307		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:58131312C>T	ENST00000547588.1	-	1	717	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	240					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						gcggcggcggcggtggcggcg	0.706																																					p.A240T		.											AGAP2_ENST00000547588,NS,carcinoma,0,1	AGAP2_ENST00000547588	0	0			c.G718A						.						4	6	5					12																	58131312		1428	3301	4729	SO:0001583	missense	116986	exon1			CGGCGGCGGTGGC	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.718G>A	12.37:g.58131312C>T	ENSP00000449241:p.Ala240Thr	30	0		38	2	NM_001122772	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.24|10.24	1.294811|1.294811	0.23564|0.23564	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000547588|ENST00000328568	T|.	0.39997|.	1.05|.	3.81|3.81	-1.14|-1.14	0.09741|0.09741	.|.	1.354790|.	0.05448|.	N|.	0.548952|.	T|T	0.10508|0.10508	0.0257|0.0257	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.14012|.	0.009;0.005|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.24548|0.24548	-1.0157|-1.0157	10|5	0.56958|.	D|.	0.05|.	.|.	0.5619|0.5619	0.00680|0.00680	0.1874:0.3561:0.184:0.2724|0.1874:0.3561:0.184:0.2724	.|.	240;240|.	F8VVT9;Q99490|.	.;AGAP2_HUMAN|.	T|H	240|103	ENSP00000449241:A240T|.	ENSP00000449241:A240T|.	A|R	-|-	1|2	0|0	AGAP2|AGAP2	56417579|56417579	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.086000|0.086000	0.14935|0.14935	-0.555000|-0.555000	0.06142|0.06142	0.455000|0.455000	0.32223|0.32223	GCC|CGC	.		0.706	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		T	58131312	C	T	58131312	3	4	30	1	0	0	0	0	1	0	0	0	368	768	27	1	2936	1	AGAP2	12	58131312	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	1501062	58131312	75720583	94	4784											
CKAP4	10970	hgsc.bcm.edu	37	12	106633701	106633701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:106633701C>A	ENST00000378026.4	-	2	1046	c.910G>T	c.(910-912)Gag>Tag	p.E304*	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	304						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						ATGTCCCACTCTCTGGACTTG	0.547																																					p.E304X		.											CKAP4,NS,carcinoma,0,1	CKAP4	0	0			c.G910T						.						115	117	116					12																	106633701		2203	4300	6503	SO:0001587	stop_gained	10970	exon2			CCCACTCTCTGGA	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.910G>T	12.37:g.106633701C>A	ENSP00000367265:p.Glu304*	40	0		55	3	NM_006825	Q504S5|Q53ES6	Nonsense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441930	0.83993	.	.	ENSG00000136026	ENST00000378026	.	.	.	5.8	4.92	0.64577	.	0.377319	0.32081	N	0.006611	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-6.15	14.6606	0.68868	0.0:0.9308:0.0:0.0692	.	.	.	.	X	304	.	ENSP00000367265:E304X	E	-	1	0	CKAP4	105157831	0.035000	0.19736	0.010000	0.14722	0.616000	0.37450	1.805000	0.38883	1.474000	0.48178	0.563000	0.77884	GAG	.		0.547	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			A	106633701	C	A	106633701	4	1	30	1	0	0	0	0	0	1	0	0	3451	922	32	3	902	3	CKAP4	12	106633701	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	48502389	106633701	27218194	95	4785											
GLTP	51228	hgsc.bcm.edu	37	12	110295408	110295408	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:110295408G>T	ENST00000318348.4	-	3	332	c.219C>A	c.(217-219)atC>atA	p.I73I	GLTP_ENST00000544393.1_Silent_p.I73I	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	73					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)	p.I73M(1)		endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		CCACCTCCAGGATGTTCTGCA	0.552																																					p.I73I		.											GLTP,mouth,carcinoma,0,1	GLTP	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C219A						.						98	92	94					12																	110295408		2203	4300	6503	SO:0001819	synonymous_variant	51228	exon3			CTCCAGGATGTTC	AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.219C>A	12.37:g.110295408G>T		39	0		42	2	NM_016433	Q53Z13|Q96J68	Silent	SNP	ENST00000318348.4	37	CCDS9136.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686706	0.68157	.	.	ENSG00000139433	ENST00000540772	.	.	.	4.89	4.0	0.46444	.	.	.	.	.	T	0.58977	0.2160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55958	-0.8058	4	.	.	.	.	8.6951	0.34291	0.1759:0.0:0.8241:0.0	.	.	.	.	Y	57	.	.	S	-	2	0	GLTP	108779791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.705000	0.47127	1.199000	0.43173	0.650000	0.86243	TCC	.		0.552	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403278.2	NM_016433		T	110295408	G	T	110295408	2	4	30	1	0	0	0	0	0	0	0	1	6497	1164	41	3		3	GLTP	12	110295408	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	3661707	110295408	23556487	96	4786											
GPR133	283383	ucsc.edu	37	12	131456080	131456080	+	Missense_Mutation	SNP	T	T	G	rs201546462		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:131456080T>G	ENST00000261654.5	+	4	824	c.265T>G	c.(265-267)Tac>Gac	p.Y89D	GPR133_ENST00000535015.1_Missense_Mutation_p.Y121D	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	89					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)		TTACGGCAGGTACAACAGCTC	0.483																																					p.Y89D													.	GPR133	136	0			c.T265G						.						77	64	68					12																	131456080		2203	4300	6503	SO:0001583	missense	283383	exon4			GGCAGGTACAACA	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.265T>G	12.37:g.131456080T>G	ENSP00000261654:p.Tyr89Asp	61	16		52	17	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	T	6.423	0.446247	0.12164	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	T;T;T	0.58652	0.42;0.32;0.42	4.43	-0.955	0.10356	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.629054	0.16003	N	0.234182	T	0.41811	0.1175	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.26935	0.164;0.078	B;B	0.30943	0.122;0.062	T	0.40289	-0.9571	10	0.72032	D	0.01	.	0.9795	0.01433	0.1547:0.177:0.1606:0.5077	.	121;89	B7ZLF7;Q6QNK2	.;GP133_HUMAN	D	89;89;121	ENSP00000261654:Y89D;ENSP00000442501:Y89D;ENSP00000444425:Y121D	ENSP00000261654:Y89D	Y	+	1	0	GPR133	130022033	0.995000	0.38212	0.000000	0.03702	0.010000	0.07245	2.383000	0.44354	-0.098000	0.12285	0.533000	0.62120	TAC	.		0.483	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		G	131456080	T	G	131456080	3	3	30	1	0	0	0	0	1	0	0	0	6669	1638	57	4	279	4	GPR133	12	131456080	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	21160672	131456080	2395815	97	4787											
EP400	57634	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	132504692	132504692	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr12:132504692C>G	ENST00000333577.4	+	23	4593	c.4484C>G	c.(4483-4485)tCt>tGt	p.S1495C	EP400_ENST00000330386.6_Missense_Mutation_p.S1459C|EP400_ENST00000332482.4_Missense_Mutation_p.S1422C|EP400_ENST00000389561.2_Missense_Mutation_p.S1459C|EP400_ENST00000389562.2_Missense_Mutation_p.S1458C			Q96L91	EP400_HUMAN	E1A binding protein p400	1495					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)		ACCACGGCCTCTGCTGCTCCA	0.652																																					p.S1459C		.											.	.	.	0			c.C4376G						.						41	45	44					12																	132504692		2203	4299	6502	SO:0001583	missense	57634	exon22			CGGCCTCTGCTGC	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.4484C>G	12.37:g.132504692C>G	ENSP00000333602:p.Ser1495Cys	24	0		16	15	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	6.864	0.528725	0.13127	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90620	-2.68;-2.68;-2.68;-2.68;-2.7	5.56	4.66	0.58398	.	0.324594	0.35555	N	0.003134	D	0.84238	0.5428	N	0.08118	0	0.09310	N	1	B;B;B	0.29590	0.25;0.25;0.25	B;B;B	0.37047	0.24;0.24;0.24	T	0.77351	-0.2620	10	0.52906	T	0.07	.	16.5309	0.84359	0.0:0.8692:0.1308:0.0	.	1459;1459;1458	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	C	1495;1459;1458;1422;1459;1459;1459	ENSP00000333602:S1495C;ENSP00000374212:S1459C;ENSP00000374213:S1458C;ENSP00000331737:S1422C;ENSP00000330620:S1459C	ENSP00000330620:S1459C	S	+	2	0	EP400	131070645	0.788000	0.28762	0.001000	0.08648	0.174000	0.22865	5.512000	0.67030	1.328000	0.45358	0.650000	0.86243	TCT	.		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132504692	C	G	132504692	3	3	30	1	0	0	0	0	1	0	0	0	5165	913	32	5	4455	5	EP400	12	132504692	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	1048612	132504692	1347203	98	4788											
FRY	10129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	32753081	32753081	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr13:32753081C>A	ENST00000380250.3	+	22	3278	c.2782C>A	c.(2782-2784)Ccc>Acc	p.P928T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	928						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)		AGTTGCAAAACCCAGTATTAT	0.443																																					p.P928T		.											.	.	.	0			c.C2782A						.						81	81	81					13																	32753081		1894	4132	6026	SO:0001583	missense	10129	exon22			GCAAAACCCAGTA	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.2782C>A	13.37:g.32753081C>A	ENSP00000369600:p.Pro928Thr	77	0		77	21	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641084	0.67244	.	.	ENSG00000073910	ENST00000380250	T	0.24538	1.85	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	M	0.68317	2.08	0.80722	D	1	B	0.18166	0.026	B	0.17098	0.017	T	0.07731	-1.0757	10	0.54805	T	0.06	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	928	Q5TBA9	FRY_HUMAN	T	928	ENSP00000369600:P928T	ENSP00000369600:P928T	P	+	1	0	FRY	31651081	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.431000	0.80335	2.729000	0.93468	0.650000	0.86243	CCC	.		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		A	32753081	C	A	32753081	3	1	30	1	0	0	0	0	1	0	0	0	6087	507	18	3	2868	3	FRY	13	32753081	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09		32753081	82416797	99	4789											
IPO5	3843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	98652792	98652792	+	Splice_Site	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr13:98652792G>A	ENST00000490680.1	+	10	1066		c.e10-1		IPO5_ENST00000539640.1_Splice_Site|IPO5_ENST00000261574.5_Splice_Site			O00410	IPO5_HUMAN	importin 5						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						TATGTGTTTAGCAATGCAGTT	0.368																																					.		.											.	.	.	0			c.1056-1G>A						.						123	110	115					13																	98652792		2203	4300	6503	SO:0001630	splice_region_variant	3843	exon13			TGTTTAGCAATGC	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.1002-1G>A	13.37:g.98652792G>A		30	0		38	10	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Splice_Site	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.568307	0.86439	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640;ENST00000469360	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8948	0.96954	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO5	97450793	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.581000	0.98210	2.699000	0.92147	0.655000	0.94253	.	.		0.368	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	Intron	A	98652792	G	A	98652792	5	1	30	1	0	0	0	0	0	0	1	0	7823	985	34	3	1097	3	IPO5	13	98652792	Splice_Site	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	65899711	98652792	16517086	100	4790											
MYH7	4625	hgsc.bcm.edu	37	14	23896926	23896926	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr14:23896926C>T	ENST00000355349.3	-	16	1918	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	586	Myosin motor.				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.V586M(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)		TTGTAGTCCACGATGCCGGCA	0.527																																					p.V586M		.											MYH7,NS,carcinoma,0,1	MYH7	0	1	Substitution - Missense(1)	prostate(1)	c.G1756A						.						158	133	142					14																	23896926		2203	4300	6503	SO:0001583	missense	4625	exon16			AGTCCACGATGCC	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.1756G>A	14.37:g.23896926C>T	ENSP00000347507:p.Val586Met	56	0		37	2	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421960	0.62622	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.98329	-4.87	4.83	4.83	0.62350	Myosin head, motor domain (2);	.	.	.	.	D	0.99477	0.9814	H	0.99842	4.835	0.80722	D	1	P	0.43287	0.802	P	0.57152	0.814	D	0.97649	1.0153	9	0.87932	D	0	.	18.5198	0.90948	0.0:1.0:0.0:0.0	.	586	P12883	MYH7_HUMAN	M	586	ENSP00000347507:V586M	ENSP00000347507:V586M	V	-	1	0	MYH7	22966766	1.000000	0.71417	0.961000	0.40146	0.033000	0.12548	7.307000	0.78920	2.688000	0.91661	0.558000	0.71614	GTG	.		0.527	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23896926	C	T	23896926	3	4	30	1	0	0	0	0	1	0	0	0	10077	536	19	1	4151	1	MYH7	14	23896926	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09		23896926	83452614	101	4791											
IRF9	10379	hgsc.bcm.edu	37	14	24632181	24632181	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr14:24632181G>A	ENST00000396864.3	+	3	474	c.187G>A	c.(187-189)Gca>Aca	p.A63T	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	63					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTAGGCCTGGGCAATATTTAA	0.522																																					p.A63T		.											IRF9,caecum,carcinoma,0,1	IRF9	0	0			c.G187A						.						38	39	39					14																	24632181		2203	4300	6503	SO:0001583	missense	10379	exon3			GCCTGGGCAATAT	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.187G>A	14.37:g.24632181G>A	ENSP00000380073:p.Ala63Thr	49	0		44	2	NM_006084	D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591497	0.96590	.	.	ENSG00000213928	ENST00000396864	D	0.99105	-5.43	5.08	5.08	0.68730	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.64402	U	0.000004	D	0.99498	0.9821	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98235	1.0485	10	0.87932	D	0	0.8833	17.2487	0.87035	0.0:0.0:1.0:0.0	.	63	Q00978	IRF9_HUMAN	T	63	ENSP00000380073:A63T	ENSP00000380073:A63T	A	+	1	0	IRF9	23702021	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.884000	0.92432	2.375000	0.81037	0.650000	0.86243	GCA	.		0.522	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			A	24632181	G	A	24632181	3	1	30	1	0	0	0	0	1	0	0	0	7864	1203	42	3	193	3	IRF9	14	24632181	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	735255	24632181	82717359	102	4792											
TINF2	26277	hgsc.bcm.edu	37	14	24710311	24710311	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr14:24710311C>T	ENST00000267415.7	-	5	860	c.519G>A	c.(517-519)gtG>gtA	p.V173V	TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000540705.1_Silent_p.V138V|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000399423.4_Silent_p.V173V	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	173					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)		TCCAACTCAGCACATCCTGAA	0.527									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																												p.V173V		.											TINF2_ENST00000267415,caecum,carcinoma,0,2	TINF2_ENST00000267415	0	0			c.G519A						.						154	152	153					14																	24710311		2068	4214	6282	SO:0001819	synonymous_variant	26277	exon5	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	ACTCAGCACATCC	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.519G>A	14.37:g.24710311C>T		45	0		31	2	NM_001099274	B3W5Q7|Q9H904|Q9UHC2	Silent	SNP	ENST00000267415.7	37	CCDS41936.1																																																																																			.		0.527	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			T	24710311	C	T	24710311	2	4	30	1	0	0	0	0	0	0	0	1	15970	697	25	3		3	TINF2	14	24710311	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	78130	24710311	82639229	103	4793											
KIAA1409	57578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	94088818	94088818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr14:94088818C>T	ENST00000393151.2	+	30	5239	c.5239C>T	c.(5239-5241)Cga>Tga	p.R1747*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.R1747*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.R1570*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.R1769*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1747					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						GAAGCAAAAACGAGACCTCCT	0.587																																					p.R1570X		.											.	.	.	0			c.C4708T						.						66	70	69					14																	94088818		2203	4300	6503	SO:0001587	stop_gained	57578	exon30			CAAAAACGAGACC	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.5239C>T	14.37:g.94088818C>T	ENSP00000376858:p.Arg1747*	37	0		24	20	NM_020818	B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	42	9.493133	0.99186	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.2	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8113	14.9559	0.71113	0.6013:0.3987:0.0:0.0	.	.	.	.	X	1570;1747;1769;1747;1769	.	ENSP00000256339:R1570X	R	+	1	2	KIAA1409	93158571	1.000000	0.71417	0.996000	0.52242	0.764000	0.43329	0.745000	0.26259	0.538000	0.28769	0.305000	0.20034	CGA	.		0.587	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94088818	C	T	94088818	4	4	30	1	0	0	0	0	0	1	0	0	8257	528	19	1	4814	1	KIAA1409	14	94088818	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	69378507	94088818	13260722	104	4794											
TDRD9	122402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	104471611	104471611	+	Splice_Site	SNP	C	C	T	rs199531888		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr14:104471611C>T	ENST00000409874.4	+	15	1630	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TDRD9_ENST00000339063.5_Splice_Site_p.R528C	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	528	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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)				TTCTTTTCAGCGTTGTCCATT	0.463																																					p.R528C		.											TDRD9_ENST00000409874,NS,carcinoma,0,2	TDRD9_ENST00000409874	0	0			c.C1582T						.						70	65	67					14																	104471611		2203	4300	6503	SO:0001630	splice_region_variant	122402	exon15			TTTCAGCGTTGTC	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.1582-1C>T	14.37:g.104471611C>T		51	0		41	4	NM_153046	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.62|18.62	3.663778|3.663778	0.67700|0.67700	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.03607	.|3.87;3.87	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Helicase, C-terminal (1);	.|0.183376	.|0.37012	.|N	.|0.002284	T|T	0.28532|0.28532	0.0706|0.0706	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.909;0.995	T|T	0.32322|0.32322	-0.9911|-0.9911	5|10	.|0.87932	.|D	.|0	.|.	15.876|15.876	0.79162|0.79162	0.1359:0.8641:0.0:0.0|0.1359:0.8641:0.0:0.0	.|.	.|528;528	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	V|C	254|528	.|ENSP00000387303:R528C;ENSP00000343545:R528C	.|ENSP00000343545:R528C	A|R	+|+	2|1	0|0	TDRD9|TDRD9	103541364|103541364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.778000|0.778000	0.44026|0.44026	3.004000|3.004000	0.49513|0.49513	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GCG|CGT	0.001		0.463	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	Missense_Mutation	T	104471611	C	T	104471611	5	4	30	1	0	0	0	0	0	0	1	0	15783	782	27	1	1640	1	TDRD9	14	104471611	Splice_Site	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	10382793	104471611	2877929	105	4795											
CHTF18	63922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	845949	845949	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr16:845949G>A	ENST00000262315.9	+	18	2391	c.2328G>A	c.(2326-2328)gtG>gtA	p.V776V	CHTF18_ENST00000455171.2_Silent_p.V804V|CHTF18_ENST00000317063.6_Silent_p.V985V	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	776					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)				TCCCCTAGGTGAGCACACAGC	0.642																																					p.V776V		.											.	.	.	0			c.G2328A						.						26	33	31					16																	845949		2140	4248	6388	SO:0001819	synonymous_variant	63922	exon18			CTAGGTGAGCACA	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.2328G>A	16.37:g.845949G>A		16	0		20	7	NM_022092	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	CCDS45371.1																																																																																			.		0.642	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		A	845949	G	A	845949	2	1	30	1	0	0	0	0	0	0	0	1	3421	1277	45	3		3	CHTF18	16	845949	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		845949	89508804	106	4796											
DOK4	55715	broad.mit.edu;bcgsc.ca	37	16	57509842	57509842	+	Missense_Mutation	SNP	G	G	A	rs368504381		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr16:57509842G>A	ENST00000340099.4	-	3	465	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000566936.1_Missense_Mutation_p.R32W|DOK4_ENST00000569548.1_Missense_Mutation_p.R32W	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	32	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GAGGATTTCCGGAACACCAGC	0.652																																					p.R32W													.	DOK4	19	0			c.C94T						.	G	TRP/ARG	0,4396		0,0,2198	32	35	34		94	5.3	1	16		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOK4	NM_018110.3	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	32/327	57509842	1,12995	2198	4300	6498	SO:0001583	missense	0	exon3			ATTTCCGGAACAC	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.94C>T	16.37:g.57509842G>A	ENSP00000344277:p.Arg32Trp	70	1		72	6	NM_018110	O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755959	0.89843	0.0	1.16E-4	ENSG00000125170	ENST00000340099	T	0.77358	-1.09	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.238837	0.32343	N	0.006227	T	0.82042	0.4951	L	0.43152	1.355	0.50467	D	0.999879	D;D	0.69078	0.995;0.997	D;P	0.70227	0.968;0.792	T	0.81521	-0.0895	10	0.51188	T	0.08	-8.1212	11.3626	0.49653	0.0:0.0:0.8193:0.1806	.	32;32	Q8TEW6;B2RD67	DOK4_HUMAN;.	W	32	ENSP00000344277:R32W	ENSP00000344277:R32W	R	-	1	2	DOK4	56067343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.871000	0.56077	2.753000	0.94483	0.650000	0.86243	CGG	.		0.652	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			A	57509842	G	A	57509842	3	1	30	1	0	0	0	0	1	0	0	0	4713	1115	39	1	914	1	DOK4	16	57509842	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	56663893	57509842	32844911	107	4797											
TM4SF5	9032	hgsc.bcm.edu	37	17	4675353	4675353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:4675353C>T	ENST00000270560.3	+	1	167	c.136C>T	c.(136-138)Caa>Taa	p.Q46*		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	46						integral component of plasma membrane (GO:0005887)		p.Q46E(1)		large_intestine(2)|lung(3)|ovary(1)	6						TCTCAGCTTGCAAGTCTGGCT	0.622																																					p.Q46X		.											TM4SF5,NS,carcinoma,0,1	TM4SF5	0	1	Substitution - Missense(1)	lung(1)	c.C136T						.						119	106	111					17																	4675353		2203	4300	6503	SO:0001587	stop_gained	9032	exon1			AGCTTGCAAGTCT	AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"transmembrane 4 superfamily member 5"			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.136C>T	17.37:g.4675353C>T	ENSP00000270560:p.Gln46*	38	0		50	3	NM_003963	Q17RW9|Q6IB79	Nonsense_Mutation	SNP	ENST00000270560.3	37	CCDS11054.1	.	.	.	.	.	.	.	.	.	.	C	37	6.522785	0.97633	.	.	ENSG00000142484	ENST00000270560	.	.	.	5.54	5.54	0.83059	.	0.235813	0.44285	D	0.000480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.3095	16.9865	0.86341	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000270560:Q46X	Q	+	1	0	TM4SF5	4622102	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	2.840000	0.48215	2.598000	0.87819	0.655000	0.94253	CAA	.		0.622	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			T	4675353	C	T	4675353	4	4	30	1	0	0	0	0	0	1	0	0	16018	711	25	3	138	3	TM4SF5	17	4675353	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09		4675353	76519857	108	4798											
DHRS7C	201140	bcgsc.ca	37	17	9684863	9684863	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:9684863C>A	ENST00000330255.5	-	2	215	c.203G>T	c.(202-204)gGa>gTa	p.G68V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.G68V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	68					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCAGTTCTTTCCACACAGCAC	0.567																																					p.G68V													.	DHRS7C	34	0			c.G203T						.						85	90	88					17																	9684863		2024	4178	6202	SO:0001583	missense	201140	exon2			TTCTTTCCACACA		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.203G>T	17.37:g.9684863C>A	ENSP00000327975:p.Gly68Val	42	0		54	4	NM_001220493	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004623	0.74932	.	.	ENSG00000184544	ENST00000330255	D	0.88277	-2.36	5.04	4.06	0.47325	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	L	0.55834	1.745	0.80722	D	1	D;D	0.63880	0.993;0.961	D;P	0.69307	0.963;0.907	D	0.92741	0.6208	10	0.87932	D	0	.	14.1634	0.65461	0.0:0.8389:0.1611:0.0	.	68;65	A6NNS2;B9EJH3	DRS7C_HUMAN;.	V	68	ENSP00000327975:G68V	ENSP00000327975:G68V	G	-	2	0	DHRS7C	9625588	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	5.707000	0.68370	1.110000	0.41699	0.557000	0.71058	GGA	.		0.567	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		A	9684863	C	A	9684863	3	1	30	1	0	0	0	0	1	0	0	0	4511	855	30	3	752	3	DHRS7C	17	9684863	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	5009510	9684863	71510347	109	4799											
ATAD5	79915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	29220847	29220847	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:29220847T>C	ENST00000321990.4	+	21	5354	c.4976T>C	c.(4975-4977)tTa>tCa	p.L1659S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1659					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)				ATGTCCTTCTTAGATGCACTT	0.358																																					p.L1659S		.											.	.	.	0			c.T4976C						.						178	184	182					17																	29220847		2203	4300	6503	SO:0001583	missense	79915	exon21			CCTTCTTAGATGC		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.4976T>C	17.37:g.29220847T>C	ENSP00000313171:p.Leu1659Ser	64	0		111	24	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641594	0.67244	.	.	ENSG00000176208	ENST00000321990	T	0.05855	3.38	6.08	6.08	0.98989	.	0.730388	0.13264	N	0.401094	T	0.17408	0.0418	M	0.61703	1.905	0.27513	N	0.951636	D	0.57899	0.981	P	0.55161	0.77	T	0.09314	-1.0680	10	0.87932	D	0	.	11.6508	0.51288	0.0:0.0684:0.0:0.9316	.	1659	Q96QE3	ATAD5_HUMAN	S	1659	ENSP00000313171:L1659S	ENSP00000313171:L1659S	L	+	2	0	ATAD5	26244973	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.660000	0.61511	2.333000	0.79357	0.482000	0.46254	TTA	.		0.358	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29220847	T	C	29220847	3	2	30	1	0	0	0	0	1	0	0	0	1077	1764	61	4	5058	4	ATAD5	17	29220847	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	19535984	29220847	51974363	110	4800											
CCDC103	388389	hgsc.bcm.edu	37	17	42979874	42979874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:42979874G>T	ENST00000417826.2	+	4	513	c.418G>T	c.(418-420)Gga>Tga	p.G140*	FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron|EFTUD2_ENST00000426333.2_5'Flank|CCDC103_ENST00000410006.2_Nonsense_Mutation_p.G140*|AC015936.3_ENST00000441312.1_RNA	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	140					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)	p.G140R(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				GACAGATGTGGGATTTGGACT	0.637																																					p.G140X		.											CCDC103,colon,carcinoma,0,1	CCDC103	0	1	Substitution - Missense(1)	large_intestine(1)	c.G418T						.						69	74	73					17																	42979874		2203	4300	6503	SO:0001587	stop_gained	388389	exon4			GATGTGGGATTTG	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.418G>T	17.37:g.42979874G>T	ENSP00000391692:p.Gly140*	21	0		30	2	NM_001258395	A8K145|B8ZZU0	Nonsense_Mutation	SNP	ENST00000417826.2	37	CCDS11490.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124025	0.94429	.	.	ENSG00000167131	ENST00000357776;ENST00000417826;ENST00000410006	.	.	.	6.16	6.16	0.99307	.	0.108387	0.35378	U	0.003246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-7.9395	19.0403	0.92995	0.0:0.0:1.0:0.0	.	.	.	.	X	140	.	ENSP00000350420:G140X	G	+	1	0	CCDC103	40335400	1.000000	0.71417	0.992000	0.48379	0.856000	0.48823	7.808000	0.86044	2.937000	0.99478	0.650000	0.86243	GGA	.		0.637	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		T	42979874	G	T	42979874	4	4	30	1	0	0	0	0	0	1	0	0	2745	1233	43	3	428	3	CCDC103	17	42979874	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	13759027	42979874	38215336	111	4801											
MAP3K14	9020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	43351847	43351847	+	RNA	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:43351847G>T	ENST00000344686.2	-	0	1509							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)	p.F468F(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCAGCTCCATGAAGATGTTGA	0.537																																					.		.											MAP3K14,NS,carcinoma,0,1	MAP3K14	0	1	Substitution - coding silent(1)	cervix(1)	.						.						62	66	64					17																	43351847		2042	4197	6239			9020	p.F467L			CTCCATGAAGATG	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6853	protein-coding gene	gene with protein product	"serine/threonine protein-kinase"	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43351847G>T		65	0		89	13	.	A8K2D8|D3DX67|Q8IYN1	Missense_Mutation	SNP	ENST00000344686.2	37		.	.	.	.	.	.	.	.	.	.	G	17.35	3.367009	0.61513	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.38	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057972	0.64402	D	0.000001	T	0.39091	0.1065	L	0.27944	0.81	0.34561	D	0.712419	P	0.39094	0.659	B	0.43658	0.426	T	0.55438	-0.8141	8	0.54805	T	0.06	.	9.3627	0.38206	0.1609:0.0:0.8391:0.0	.	468	Q99558	M3K14_HUMAN	L	467;251	.	ENSP00000342059:F467L	F	-	3	2	MAP3K14	40707630	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.042000	0.57347	1.278000	0.44430	0.561000	0.74099	TTC	.		0.537	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		T	43351847	G	T	43351847	1	4	30	0	1	0	0	0	0	0	0	0	9286	1281	45	3		3	MAP3K14	17	43351847	RNA	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	371973	43351847	37843363	112	4802											
PPM1D	8493	hgsc.bcm.edu	37	17	58740756	58740756	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:58740756G>T	ENST00000305921.3	+	6	1893	c.1661G>T	c.(1660-1662)gGc>gTc	p.G554V	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	554					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGACGAAATGGCTTAAGTCGA	0.473											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.G554V		.											.	.	.	0			c.G1661T						.						85	79	81					17																	58740756		2203	4300	6503	SO:0001583	missense	8493	exon6			GAAATGGCTTAAG	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1661G>T	17.37:g.58740756G>T	ENSP00000306682:p.Gly554Val	51	0	1033	66	3	NM_003620	Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935181	0.73442	.	.	ENSG00000170836	ENST00000305921	T	0.54479	0.57	6.08	6.08	0.98989	.	0.169585	0.52532	D	0.000076	T	0.49474	0.1559	L	0.29908	0.895	0.58432	D	0.999997	D	0.56521	0.976	P	0.45829	0.494	T	0.51387	-0.8712	10	0.62326	D	0.03	-5.4114	18.8526	0.92238	0.0:0.0:1.0:0.0	.	554	O15297	PPM1D_HUMAN	V	554	ENSP00000306682:G554V	ENSP00000306682:G554V	G	+	2	0	PPM1D	56095538	0.999000	0.42202	0.993000	0.49108	0.993000	0.82548	4.696000	0.61774	2.894000	0.99253	0.591000	0.81541	GGC	.		0.473	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		T	58740756	G	T	58740756	3	4	30	1	0	0	0	0	1	0	0	0	12379	1203	42	3	1683	3	PPM1D	17	58740756	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	15388909	58740756	22454454	113	4803											
TEX2	55852	hgsc.bcm.edu;broad.mit.edu	37	17	62271115	62271115	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:62271115C>T	ENST00000583097.1	-	4	2152	c.1980G>A	c.(1978-1980)ccG>ccA	p.P660P	TEX2_ENST00000258991.3_Silent_p.P660P|TEX2_ENST00000584379.1_Silent_p.P660P			Q8IWB9	TEX2_HUMAN	testis expressed 2	660					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)		CCTCAGCTGGCGGCTTCTCTT	0.483																																					p.P660P		.											.	.	.	0			c.G1980A						.						102	91	95					17																	62271115		2203	4300	6503	SO:0001819	synonymous_variant	55852	exon4			AGCTGGCGGCTTC	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.1980G>A	17.37:g.62271115C>T		69	0		81	4	NM_018469	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																				.		0.483	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		T	62271115	C	T	62271115	2	4	30	1	0	0	0	0	0	0	0	1	15828	755	27	1		1	TEX2	17	62271115	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	3530359	62271115	18924095	114	4804											
CACNG5	27091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	64873577	64873577	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr17:64873577C>T	ENST00000533854.1	+	2	364	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	CACNG5_ENST00000307139.3_Missense_Mutation_p.P43S|CACNG5_ENST00000169565.3_Missense_Mutation_p.P43S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	43					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)			TGTGATTGTGCCCCAGAACCA	0.617																																					p.P43S		.											.	.	.	0			c.C127T						.						173	134	147					17																	64873577		2203	4300	6503	SO:0001583	missense	27091	exon1			ATTGTGCCCCAGA	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.127C>T	17.37:g.64873577C>T	ENSP00000436836:p.Pro43Ser	16	0		30	11	NM_145811	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923135	0.52653	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	T;T;T	0.45276	0.94;0.94;0.9	4.69	2.52	0.30459	.	0.131603	0.52532	D	0.000073	T	0.29588	0.0738	L	0.28504	0.86	0.51767	D	0.999934	B	0.29936	0.262	B	0.34931	0.192	T	0.04360	-1.0957	10	0.14252	T	0.57	-37.3364	11.1088	0.48218	0.1426:0.7192:0.1382:0.0	.	43	Q9UF02	CCG5_HUMAN	S	43	ENSP00000436836:P43S;ENSP00000303092:P43S;ENSP00000169565:P43S	ENSP00000169565:P43S	P	+	1	0	CACNG5	62304039	1.000000	0.71417	0.990000	0.47175	0.694000	0.40290	4.316000	0.59178	1.322000	0.45245	0.558000	0.71614	CCC	.		0.617	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		T	64873577	C	T	64873577	3	4	30	1	0	0	0	0	1	0	0	0	2567	739	26	3	129	3	CACNG5	17	64873577	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	2602462	64873577	16321633	115	4805											
ZNF676	163223	hgsc.bcm.edu	37	19	22363737	22363737	+	Missense_Mutation	SNP	C	C	G	rs572031376	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:22363737C>G	ENST00000397121.2	-	3	1099	c.782G>C	c.(781-783)gGa>gCa	p.G261A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				GCTACTAAATCCTTTGCCACA	0.393													G|||	17	0.00339457	0.0015	0.0029	5008	,	,		24868	0.0089		0.003	False		,,,				2504	0.001				p.G261A		.											.	.	.	0			c.G782C						.						89	96	93					19																	22363737		2158	4274	6432	SO:0001583	missense	163223	exon3			CTAAATCCTTTGC	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.782G>C	19.37:g.22363737C>G	ENSP00000380310:p.Gly261Ala	60	0		80	4	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.455683	0.00012	.	.	ENSG00000196109	ENST00000397121	T	0.35236	1.32	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.00788	-1.185	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.28996	-1.0026	9	0.02654	T	1	.	8.4431	0.32826	0.0:0.685:0.315:0.0	.	261	Q8N7Q3	ZN676_HUMAN	A	261	ENSP00000380310:G261A	ENSP00000380310:G261A	G	-	2	0	ZNF676	22155577	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.024000	0.12435	-1.409000	0.02038	-1.398000	0.01145	GGA	.		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363737	C	G	22363737	3	3	30	1	0	0	0	0	1	0	0	0	18131	855	30	5	988	5	ZNF676	19	22363737	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09		22363737	36765246	116	4806											
ZNF98	148198	broad.mit.edu	37	19	22586259	22586259	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:22586259C>T	ENST00000357774.5	-	2	207	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	ZNF98_ENST00000601553.1_Missense_Mutation_p.C29Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	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)			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)				GGTGTCCAGGCATTGCCACTC	0.413																																					p.C29Y													ZNF98_ENST00000357774,right_lower_lobe,carcinoma,+1,2	ZNF98	230	0			c.G86A						.						85	91	89					19																	22586259		2201	4297	6498	SO:0001583	missense	148198	exon2			TCCAGGCATTGCC		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.86G>A	19.37:g.22586259C>T	ENSP00000350418:p.Cys29Tyr	87	1		84	5	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	9.924	1.213091	0.22289	.	.	ENSG00000197360	ENST00000357774	T	0.01767	4.65	1.06	-0.855	0.10700	Krueppel-associated box (4);	.	.	.	.	T	0.04634	0.0126	L	0.49513	1.565	0.09310	N	1	D	0.63046	0.992	D	0.68483	0.958	T	0.42932	-0.9422	9	0.49607	T	0.09	.	3.5131	0.07716	0.444:0.556:0.0:0.0	.	29	A6NK75	ZNF98_HUMAN	Y	29	ENSP00000350418:C29Y	ENSP00000350418:C29Y	C	-	2	0	ZNF98	22378099	0.000000	0.05858	0.066000	0.19879	0.248000	0.25809	-0.295000	0.08298	0.532000	0.28657	0.298000	0.19748	TGC	.		0.413	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		T	22586259	C	T	22586259	3	4	30	1	0	0	0	0	1	0	0	0	18251	710	25	3	1644	3	ZNF98	19	22586259	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	222522	22586259	36542724	117	4807											
ZNF254	9534	bcgsc.ca	37	19	24310210	24310210	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:24310210G>T	ENST00000357002.4	+	4	1523	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZNF254_ENST00000342944.6_Missense_Mutation_p.A385S	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	470					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)				ATGTGGCAAGGCATTTATATG	0.398																																					p.A470S													.	ZNF254	88	0			c.G1408T						.						58	59	58					19																	24310210		2203	4299	6502	SO:0001583	missense	9534	exon4			GGCAAGGCATTTA	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.1408G>T	19.37:g.24310210G>T	ENSP00000349494:p.Ala470Ser	71	0		65	4	NM_203282	A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.797	0.931996	0.18131	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.26067	1.76;1.76	1.07	-0.307	0.12777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19087	0.0458	N	0.04260	-0.245	0.09310	N	1	D	0.60160	0.987	P	0.60415	0.874	T	0.13737	-1.0498	9	0.46703	T	0.11	.	4.387	0.11321	0.4444:0.0:0.5556:0.0	.	470	O75437	ZN254_HUMAN	S	385;470	ENSP00000445527:A385S;ENSP00000349494:A470S	ENSP00000445527:A385S	A	+	1	0	ZNF254	24102050	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.825000	0.04433	-0.639000	0.05502	-1.261000	0.01458	GCA	.		0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		T	24310210	G	T	24310210	3	4	30	1	0	0	0	0	1	0	0	0	17846	1203	42	3	1422	3	ZNF254	19	24310210	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	1723951	24310210	34818773	118	4808											
ZNF829	374899	hgsc.bcm.edu;bcgsc.ca	37	19	37382535	37382535	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:37382535C>A	ENST00000391711.3	-	6	1522	c.1158G>T	c.(1156-1158)ggG>ggT	p.G386G	ZNF829_ENST00000520965.1_Silent_p.G467G|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCCTTCCCACATTCAT	0.378																																					p.G467G		.											.	.	.	0			c.G1401T						.						73	77	75					19																	37382535		2201	4298	6499	SO:0001819	synonymous_variant	374899	exon6			GGCCTTCCCACAT	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1158G>T	19.37:g.37382535C>A		66	0		62	4	NM_001171979	Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	CCDS42557.1																																																																																			.		0.378	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		A	37382535	C	A	37382535	2	1	30	1	0	0	0	0	0	0	0	1	18230	842	30	3		3	ZNF829	19	37382535	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	13072325	37382535	21746448	119	4809											
GSK3A	2931	hgsc.bcm.edu	37	19	42737289	42737289	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:42737289A>G	ENST00000222330.3	-	8	1198	c.1071T>C	c.(1069-1071)ccT>ccC	p.P357P	GSK3A_ENST00000398249.4_Silent_p.P275P	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	357	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|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 protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CTTTAATCTGAGGGAACTTGA	0.567																																					p.P357P		.											.	.	.	0			c.T1071C						.						136	132	133					19																	42737289		2203	4300	6503	SO:0001819	synonymous_variant	2931	exon8			AATCTGAGGGAAC		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1071T>C	19.37:g.42737289A>G		58	0		79	4	NM_019884	O14959	Silent	SNP	ENST00000222330.3	37	CCDS12599.1																																																																																			.		0.567	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			G	42737289	A	G	42737289	2	3	30	1	0	0	0	0	0	0	0	1	6850	291	11	4		4	GSK3A	19	42737289	Silent	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	5354754	42737289	16391694	120	4810											
MYADM	91663	ucsc.edu	37	19	54376839	54376839	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:54376839G>T	ENST00000391769.2	+	3	336	c.56G>T	c.(55-57)gGc>gTc	p.G19V	MYADM_ENST00000391768.2_Missense_Mutation_p.G19V|MYADM_ENST00000336967.3_Missense_Mutation_p.G19V|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.G19V|MYADM_ENST00000391770.4_Missense_Mutation_p.G19V	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	19					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)		TCATCTTCGGGCCTGGGGTCC	0.607											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.G19V													.	MYADM	39	0			c.G56T						.						57	51	53					19																	54376839		2203	4300	6503	SO:0001583	missense	91663	exon2			CTTCGGGCCTGGG	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.56G>T	19.37:g.54376839G>T	ENSP00000375649:p.Gly19Val	27	0	999	36	4	NM_001020818	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682874	0.29872	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768;ENST00000414489	.	.	.	3.14	0.8	0.18672	.	0.552231	0.16657	N	0.204930	T	0.27765	0.0683	N	0.08118	0	0.42114	D	0.991397	B	0.12630	0.006	B	0.08055	0.003	T	0.04607	-1.0939	9	0.72032	D	0.01	-9.5128	5.7653	0.18224	0.0:0.2179:0.5576:0.2245	.	19	Q96S97	MYADM_HUMAN	V	19	.	ENSP00000337222:G19V	G	+	2	0	MYADM	59068651	0.997000	0.39634	0.451000	0.26982	0.274000	0.26718	1.078000	0.30754	0.015000	0.14971	0.313000	0.20887	GGC	.		0.607	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		T	54376839	G	T	54376839	3	4	30	1	0	0	0	0	1	0	0	0	10044	1203	42	3	58	3	MYADM	19	54376839	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	11639550	54376839	4752144	121	4811											
C19orf51	352909	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	55672774	55672774	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:55672774G>A	ENST00000524407.2	-	7	709	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	DNAAF3_ENST00000455045.1_Missense_Mutation_p.H172Y|DNAAF3_ENST00000391720.4_Missense_Mutation_p.H273Y|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.H294Y|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	226					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											TCCTGGGGGTGAATGACTTGA	0.657																																					p.H294Y		.											.	.	.	0			c.C880T						.						13	17	16					19																	55672774		1906	4092	5998	SO:0001583	missense	352909	exon7			GGGGGTGAATGAC	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.676C>T	19.37:g.55672774G>A	ENSP00000432046:p.His226Tyr	60	0		74	19	NM_001256714	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909260	0.17833	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.18016	2.24;2.24	4.15	3.02	0.34903	.	0.247017	0.39020	N	0.001485	T	0.31104	0.0786	M	0.75777	2.31	0.26485	N	0.975035	P;P;D;P	0.69078	0.908;0.952;0.997;0.898	B;P;P;B	0.59288	0.439;0.719;0.855;0.434	T	0.03739	-1.1008	10	0.32370	T	0.25	-31.1904	8.9054	0.35521	0.0:0.0:0.7022:0.2977	.	294;172;247;226	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	Y	294;172;273	ENSP00000394343:H172Y;ENSP00000375600:H273Y	ENSP00000301249:H294Y	H	-	1	0	C19orf51	60364586	1.000000	0.71417	0.995000	0.50966	0.251000	0.25915	2.018000	0.40991	2.324000	0.78689	0.549000	0.68633	CAC	.		0.657	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		A	55672774	G	A	55672774	3	1	30	1	0	0	0	0	1	0	0	0	1940	1290	45	3	973	3	C19orf51	19	55672774	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	1295935	55672774	3456209	122	4812											
ZNF134	7693	hgsc.bcm.edu	37	19	58132757	58132757	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr19:58132757G>A	ENST00000396161.5	+	3	1580	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	424					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)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGTTCACACTGCAGGCAGGCT	0.453																																					p.A424T		.											.	.	.	0			c.G1270A						.						184	192	189					19																	58132757		2202	4300	6502	SO:0001583	missense	7693	exon3			CACACTGCAGGCA	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1270G>A	19.37:g.58132757G>A	ENSP00000379464:p.Ala424Thr	74	0		63	4	NM_003435	Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813905	0.90790	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.08984	3.03	4.08	-0.951	0.10369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	N	0.17474	0.49	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.38542	-0.9656	9	0.72032	D	0.01	.	5.1032	0.14770	0.2571:0.0:0.5989:0.144	.	424	P52741	ZN134_HUMAN	T	491;344;424	ENSP00000379464:A424T	ENSP00000379464:A424T	A	+	1	0	ZNF134	62824569	0.106000	0.21978	0.000000	0.03702	0.955000	0.61496	2.197000	0.42696	-0.133000	0.11537	0.563000	0.77884	GCA	.		0.453	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		A	58132757	G	A	58132757	3	1	30	1	0	0	0	0	1	0	0	0	17772	1319	46	3	1276	3	ZNF134	19	58132757	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	2459983	58132757	996226	123	4813											
CPXM1	56265	hgsc.bcm.edu	37	20	2777840	2777840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr20:2777840G>T	ENST00000380605.2	-	6	894	c.830C>A	c.(829-831)tCa>tAa	p.S277*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	277					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						CTGCCCACCTGAGACTGGGCA	0.647																																					p.S277X		.											CPXM1,NS,carcinoma,0,1	CPXM1	0	0			c.C830A						.						27	29	29					20																	2777840		2203	4299	6502	SO:0001587	stop_gained	56265	exon6			CCACCTGAGACTG	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.830C>A	20.37:g.2777840G>T	ENSP00000369979:p.Ser277*	39	0		50	2	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Nonsense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	36	5.948027	0.97134	.	.	ENSG00000088882	ENST00000380605	.	.	.	4.79	3.84	0.44239	.	0.410516	0.23716	N	0.045269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-19.7405	10.8001	0.46483	0.0922:0.0:0.9078:0.0	.	.	.	.	X	277	.	ENSP00000369979:S277X	S	-	2	0	CPXM1	2725840	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	4.782000	0.62396	1.250000	0.43966	0.655000	0.94253	TCA	.		0.647	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2777840	G	T	2777840	4	4	30	1	0	0	0	0	0	1	0	0	3844	1294	45	3	1410	3	CPXM1	20	2777840	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		2777840	60247680	124	4814											
C20orf194	25943	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	3240180	3240180	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr20:3240180G>T	ENST00000252032.9	-	33	3068	c.3001C>A	c.(3001-3003)Cca>Aca	p.P1001T	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1001										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAGGGACTTGGCTTGATGGAG	0.532																																					p.P1001T		.											.	.	.	0			c.C3001A						.						175	179	178					20																	3240180		2043	4189	6232	SO:0001583	missense	25943	exon33			GACTTGGCTTGAT	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.3001C>A	20.37:g.3240180G>T	ENSP00000252032:p.Pro1001Thr	26	0		27	4	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.817053	0.32145	.	.	ENSG00000088854	ENST00000252032	T	0.18810	2.19	5.21	4.26	0.50523	.	0.190378	0.46145	D	0.000310	T	0.13114	0.0318	L	0.28115	0.83	0.80722	D	1	B;B	0.18461	0.009;0.028	B;B	0.15484	0.013;0.013	T	0.08911	-1.0699	10	0.38643	T	0.18	.	6.1682	0.20402	0.1538:0.0:0.6955:0.1506	.	740;1001	Q0IIP3;Q5TEA3	.;CT194_HUMAN	T	1001	ENSP00000252032:P1001T	ENSP00000252032:P1001T	P	-	1	0	C20orf194	3188180	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.212000	0.42835	1.211000	0.43351	-0.275000	0.10095	CCA	.		0.532	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		T	3240180	G	T	3240180	3	4	30	1	0	0	0	0	1	0	0	0	2106	1203	42	3	552	3	C20orf194	20	3240180	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	462340	3240180	59785340	125	4815											
CENPB	1059	hgsc.bcm.edu;broad.mit.edu	37	20	3765895	3765895	+	Silent	SNP	C	C	T	rs545901224	byFrequency	TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr20:3765895C>T	ENST00000379751.4	-	1	1442	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	412	Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						cctcttcttcctcctcctcct	0.597																																					p.E412E		.											CENPB,NS,carcinoma,0,1	CENPB	0	0			c.G1236A						.						72	59	63					20																	3765895		2201	4298	6499	SO:0001819	synonymous_variant	1059	exon1			TTCTTCCTCCTCC	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1236G>A	20.37:g.3765895C>T		12	0		24	3	NM_001810	Q96EI4	Silent	SNP	ENST00000379751.4	37	CCDS13064.1																																																																																			.		0.597	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		T	3765895	C	T	3765895	2	4	30	1	0	0	0	0	0	0	0	1	3234	680	24	3		3	CENPB	20	3765895	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	525715	3765895	59259625	126	4816											
RBL1	5933	hgsc.bcm.edu	37	20	35651208	35651208	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr20:35651208G>A	ENST00000373664.3	-	17	2470	c.2404C>T	c.(2404-2406)Cgc>Tgc	p.R802C	RBL1_ENST00000344359.3_Missense_Mutation_p.R802C	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	802	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|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)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.R802C(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCACGTAAGCGTACACTTGCC	0.343																																					p.R802C		.											RBL1,NS,carcinoma,0,1	RBL1	0	1	Substitution - Missense(1)	endometrium(1)	c.C2404T						.						90	79	83					20																	35651208		2203	4300	6503	SO:0001583	missense	5933	exon17			GTAAGCGTACACT	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2404C>T	20.37:g.35651208G>A	ENSP00000362768:p.Arg802Cys	56	0		73	3	NM_183404	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048672	0.93740	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.95482	-3.72;-3.72	5.39	5.39	0.77823	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99198	1.0872	10	0.87932	D	0	-7.6332	19.175	0.93600	0.0:0.0:1.0:0.0	.	802;802	P28749-2;P28749	.;RBL1_HUMAN	C	802	ENSP00000362768:R802C;ENSP00000343646:R802C	ENSP00000343646:R802C	R	-	1	0	RBL1	35084622	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.669000	0.98622	2.541000	0.85698	0.555000	0.69702	CGC	.		0.343	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		A	35651208	G	A	35651208	3	1	30	1	0	0	0	0	1	0	0	0	13154	1145	40	1	835	1	RBL1	20	35651208	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	31885313	35651208	27374312	127	4817											
SGK2	10110	hgsc.bcm.edu;bcgsc.ca	37	20	42213625	42213625	+	Missense_Mutation	SNP	C	C	T	rs140923021		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr20:42213625C>T	ENST00000341458.4	+	12	1472	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	SGK2_ENST00000423407.3_Missense_Mutation_p.A358V|SGK2_ENST00000373077.1_Missense_Mutation_p.A357V|SGK2_ENST00000373092.3_Missense_Mutation_p.A358V|SGK2_ENST00000426287.1_Missense_Mutation_p.A384V|SGK2_ENST00000373100.1_Missense_Mutation_p.A358V	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	418	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTTTCTTATGCGCCAGAGGAT	0.507																																					p.A418V		.											.	.	.	0			c.C1253T						.	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	102	100	100		1073,1253,1073	2.6	0.2	20	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SGK2	NM_001199264.1,NM_016276.3,NM_170693.2	64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	358/368,418/428,358/368	42213625	2,13004	2203	4300	6503	SO:0001583	missense	10110	exon12			CTTATGCGCCAGA	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1253C>T	20.37:g.42213625C>T	ENSP00000340608:p.Ala418Val	57	0		62	4	NM_016276	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051372	0.36181	0.0	2.33E-4	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.64	2.64	0.31445	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.212334	0.49305	N	0.000142	T	0.46386	0.1390	N	0.16368	0.405	0.43003	D	0.994523	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.29243	-1.0018	10	0.27082	T	0.32	.	8.3563	0.32331	0.0:0.7279:0.1288:0.1433	.	418;358	Q9HBY8;Q9HBY8-2	SGK2_HUMAN;.	V	358;358;357;358;418;384	ENSP00000362192:A358V;ENSP00000362184:A358V;ENSP00000362168:A357V;ENSP00000392795:A358V;ENSP00000340608:A418V;ENSP00000412214:A384V	ENSP00000340608:A418V	A	+	2	0	SGK2	41647039	0.915000	0.31059	0.157000	0.22605	0.090000	0.18270	1.764000	0.38471	0.415000	0.25817	0.655000	0.94253	GCG	0.000		0.507	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			T	42213625	C	T	42213625	3	4	30	1	0	0	0	0	1	0	0	0	14254	768	27	1	1299	1	SGK2	20	42213625	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	6562417	42213625	20811895	128	4818											
ICOSLG	23308	bcgsc.ca	37	21	45656893	45656893	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr21:45656893G>T	ENST00000407780.3	-	3	390	c.263C>A	c.(262-264)cCg>cAg	p.P88Q	ICOSLG_ENST00000400379.3_Missense_Mutation_p.P88Q|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000344330.4_Missense_Mutation_p.P88Q	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	88	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)		CATGCCGGCCGGTGACATCAG	0.597																																					p.P88Q													.	ICOSLG	20	0			c.C263A						.						70	89	83					21																	45656893		2145	4250	6395	SO:0001583	missense	23308	exon3			CCGGCCGGTGACA	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.263C>A	21.37:g.45656893G>T	ENSP00000384432:p.Pro88Gln	38	0		35	4	NM_015259	A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723081	0.48728	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.64618	-0.11;-0.11;-0.11	5.01	-9.3	0.00649	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.315590	0.05266	N	0.516710	T	0.63943	0.2554	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.66196	0.942;0.942	T	0.62464	-0.6849	10	0.21014	T	0.42	-7.1614	6.0562	0.19812	0.2553:0.1103:0.5262:0.1083	.	88;88	A0N0L8;O75144	.;ICOSL_HUMAN	Q	88	ENSP00000339477:P88Q;ENSP00000384432:P88Q;ENSP00000383230:P88Q	ENSP00000339477:P88Q	P	-	2	0	ICOSLG	44481321	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.607000	0.05648	-2.066000	0.00886	-0.961000	0.02630	CCG	.		0.597	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		T	45656893	G	T	45656893	3	4	30	1	0	0	0	0	1	0	0	0	7514	1116	39	2	665	2	ICOSLG	21	45656893	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		45656893	2473002	129	4819											
PCNT	5116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	47769730	47769730	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr21:47769730T>C	ENST00000359568.5	+	8	1447	c.1340T>C	c.(1339-1341)cTg>cCg	p.L447P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	447	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)					GAAAAACAGCTGGAGGTGGGC	0.418																																					p.L447P		.											.	.	.	0			c.T1340C						.						64	66	65					21																	47769730		2203	4300	6503	SO:0001583	missense	5116	exon8			AACAGCTGGAGGT	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.1340T>C	21.37:g.47769730T>C	ENSP00000352572:p.Leu447Pro	79	0		52	34	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	9.822	1.186020	0.21870	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.26957	1.7	3.98	-0.131	0.13494	.	1.083490	0.07525	N	0.911145	T	0.36744	0.0978	L	0.42245	1.32	0.30188	N	0.799806	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.916	T	0.39375	-0.9617	10	0.32370	T	0.25	.	6.9038	0.24297	0.1622:0.0:0.5285:0.3093	.	329;447	O95613-2;O95613	.;PCNT_HUMAN	P	447;434	ENSP00000352572:L447P	ENSP00000338675:L434P	L	+	2	0	PCNT	46594158	0.234000	0.23783	0.188000	0.23233	0.199000	0.23934	0.379000	0.20585	-0.010000	0.14271	0.450000	0.29827	CTG	.		0.418	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47769730	T	C	47769730	3	2	30	1	0	0	0	0	1	0	0	0	11629	1580	55	4	1370	4	PCNT	21	47769730	Missense_Mutation	SNP	T	TCGA-ZH-A8Y2-01A-11D-A417-09	2112837	47769730	360165	130	4820											
MICAL3	57553	hgsc.bcm.edu;bcgsc.ca	37	22	18370200	18370200	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr22:18370200G>T	ENST00000441493.2	-	14	2245	c.1893C>A	c.(1891-1893)gaC>gaA	p.D631E	MICAL3_ENST00000383094.3_Splice_Site_p.D631E|MICAL3_ENST00000585038.1_Splice_Site_p.D631E|MICAL3_ENST00000414725.2_Splice_Site_p.D631E|MICAL3_ENST00000429452.1_Splice_Site_p.D631E|MICAL3_ENST00000207726.7_Splice_Site_p.D631E|MICAL3_ENST00000400561.2_Splice_Site_p.D631E|MICAL3_ENST00000444520.1_Splice_Site_p.D631E	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	631					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)		GGTCCAAGGTGTCTGGGAATA	0.532																																					p.D631E		.											.	.	.	0			c.C1893A						.						121	108	112					22																	18370200		1568	3582	5150	SO:0001630	splice_region_variant	57553	exon14			CAAGGTGTCTGGG	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.1892-1C>A	22.37:g.18370200G>T		41	0		57	4	NM_015241	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	g	5.656	0.305596	0.10678	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.66460	0.05;-0.21;-0.02;-0.02;-0.02;-0.01;-0.02	6.02	-3.14	0.05250	.	0.248326	0.45867	N	0.000330	T	0.38558	0.1045	N	0.14661	0.345	0.18873	N	0.999987	B;B;B;B;B	0.19706	0.0;0.003;0.002;0.007;0.038	B;B;B;B;B	0.12156	0.001;0.007;0.007;0.007;0.006	T	0.31613	-0.9937	10	0.11794	T	0.64	.	9.402	0.38437	0.5283:0.0981:0.3736:0.0	.	631;631;631;631;631	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	E	631	ENSP00000416015:D631E;ENSP00000414846:D631E;ENSP00000383406:D631E;ENSP00000410315:D631E;ENSP00000391827:D631E;ENSP00000372574:D631E;ENSP00000207726:D631E	ENSP00000207726:D631E	D	-	3	2	XXbac-B461K10.4;MICAL3	16750200	0.007000	0.16637	0.258000	0.24420	0.309000	0.27889	-0.842000	0.04354	-0.293000	0.08986	-0.127000	0.14921	GAC	.		0.532	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Missense_Mutation	T	18370200	G	T	18370200	5	4	30	1	0	0	0	0	0	0	1	0	9609	1391	48	3	4928	3	MICAL3	22	18370200	Splice_Site	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		18370200	32934366	131	4821											
PI4KA	5297	ucsc.edu;bcgsc.ca	37	22	21150447	21150447	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr22:21150447C>A	ENST00000572273.1	-	18	2320	c.2090G>T	c.(2089-2091)gGc>gTc	p.G697V	PI4KA_ENST00000255882.6_Missense_Mutation_p.G755V|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	697					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TAGGGCAGGGCCCTTCTCGCT	0.582																																					p.G755V	GBM(136;1332 1831 3115 23601 50806)												.	PI4KA	313	0			c.G2264T						.						93	73	80					22																	21150447		2203	4300	6503	SO:0001583	missense	5297	exon18			GCAGGGCCCTTCT	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.2090G>T	22.37:g.21150447C>A	ENSP00000458238:p.Gly697Val	21	0		24	4	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	14.38	2.519136	0.44866	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	.	0.114136	0.64402	D	0.000017	T	0.38825	0.1055	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.17137	-1.0379	9	0.28530	T	0.3	-25.6138	17.256	0.87056	0.0:1.0:0.0:0.0	.	697	P42356	PI4KA_HUMAN	V	697	.	ENSP00000255882:G697V	G	-	2	0	PI4KA	19480447	1.000000	0.71417	0.999000	0.59377	0.363000	0.29612	7.597000	0.82733	2.402000	0.81655	0.591000	0.81541	GGC	.		0.582	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21150447	C	A	21150447	3	1	30	1	0	0	0	0	1	0	0	0	11912	739	26	3	4196	3	PI4KA	22	21150447	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	2780247	21150447	30154119	132	4822											
TOM1	10043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	35719501	35719501	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr22:35719501G>A	ENST00000449058.2	+	5	504	c.379G>A	c.(379-381)Gcg>Acg	p.A127T	TOM1_ENST00000447733.1_Missense_Mutation_p.A94T|TOM1_ENST00000436462.2_Missense_Mutation_p.A89T|TOM1_ENST00000411850.1_Missense_Mutation_p.A127T|TOM1_ENST00000382034.5_Missense_Mutation_p.A60T|TOM1_ENST00000425375.1_Intron	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	127	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						CTGGGCTGACGCGTTCCGCAG	0.597																																					p.A127T		.											.	.	.	0			c.G379A						.						124	118	120					22																	35719501		2203	4300	6503	SO:0001583	missense	10043	exon5			GCTGACGCGTTCC	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.379G>A	22.37:g.35719501G>A	ENSP00000394466:p.Ala127Thr	10	0		14	4	NM_001135732	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372492	0.95923	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000450839;ENST00000451197;ENST00000436462;ENST00000382034;ENST00000443206	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	4.74	4.74	0.60224	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.995;0.999	T	0.23440	-1.0188	10	0.39692	T	0.17	0.1045	17.7246	0.88361	0.0:0.0:1.0:0.0	.	89;136;127;127	E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;TOM1_HUMAN	T	94;121;127;127;127;136;89;60;94	ENSP00000398876:A94T;ENSP00000393714:A121T;ENSP00000394466:A127T;ENSP00000413697:A127T;ENSP00000402556:A89T;ENSP00000371465:A60T;ENSP00000389789:A94T	ENSP00000371465:A60T	A	+	1	0	TOM1	34049501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.725000	0.98778	2.187000	0.69744	0.561000	0.74099	GCG	.		0.597	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		A	35719501	G	A	35719501	3	1	30	1	0	0	0	0	1	0	0	0	16398	1087	38	1	397	1	TOM1	22	35719501	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	14569054	35719501	15585065	133	4823											
JOSD1	9929	hgsc.bcm.edu	37	22	39085046	39085046	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr22:39085046G>T	ENST00000216039.5	-	3	1082	c.403C>A	c.(403-405)Ctc>Atc	p.L135I		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	135	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TGCCTTTTGAGGGGCAGTTTC	0.567																																					p.L135I		.											JOSD1,NS,lymphoid_neoplasm,+2,1	JOSD1	+2	0			c.C403A						.						94	78	84					22																	39085046		2203	4300	6503	SO:0001583	missense	9929	exon3			TTTTGAGGGGCAG		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.403C>A	22.37:g.39085046G>T	ENSP00000216039:p.Leu135Ile	37	0		34	2	NM_014876	A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.898583|4.898583	0.91962|0.91962	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000216039|ENST00000545590	T|T	0.46819|0.47869	0.86|0.83	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60470|0.60470	0.2271|0.2271	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	P|.	0.47484|.	0.896|.	P|.	0.44394|.	0.448|.	T|T	0.60291|0.60291	-0.7292|-0.7292	10|7	0.30078|0.72032	T|D	0.28|0.01	.|.	19.9759|19.9759	0.97304|0.97304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135|.	Q15040|.	JOS1_HUMAN|.	I|H	135|86	ENSP00000216039:L135I|ENSP00000444798:P86H	ENSP00000216039:L135I|ENSP00000444798:P86H	L|P	-|-	1|2	0|0	JOSD1|JOSD1	37414992|37414992	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	CTC|CCT	.		0.567	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		T	39085046	G	T	39085046	3	4	30	1	0	0	0	0	1	0	0	0	7985	1000	35	3	213	3	JOSD1	22	39085046	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	3365545	39085046	12219520	134	4824											
ZC3H7B	23264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	41723243	41723243	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chr22:41723243A>G	ENST00000352645.4	+	5	576	c.319A>G	c.(319-321)Aag>Gag	p.K107E	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107E	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	107					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGACAGCGAGAAGGCGCTGGG	0.632																																					p.K107E		.											.	.	.	0			c.A319G						.						119	94	102					22																	41723243		2203	4300	6503	SO:0001583	missense	23264	exon5			AGCGAGAAGGCGC		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.319A>G	22.37:g.41723243A>G	ENSP00000345793:p.Lys107Glu	37	0		35	11	NM_017590	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.337903	0.41398	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.62364	0.03;0.03	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096995	0.64402	D	0.000001	T	0.66973	0.2844	L	0.50919	1.6	0.45490	D	0.998452	B;D	0.55605	0.34;0.972	B;P	0.56563	0.17;0.801	T	0.62525	-0.6836	10	0.11485	T	0.65	-26.3846	15.197	0.73100	1.0:0.0:0.0:0.0	.	107;107	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	E	107	ENSP00000345793:K107E;ENSP00000263243:K107E	ENSP00000263243:K107E	K	+	1	0	ZC3H7B	40053189	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	6.348000	0.73009	1.989000	0.58080	0.402000	0.26972	AAG	.		0.632	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		G	41723243	A	G	41723243	3	3	30	1	0	0	0	0	1	0	0	0	17621	247	9	4	333	4	ZC3H7B	22	41723243	Missense_Mutation	SNP	A	TCGA-ZH-A8Y2-01A-11D-A417-09	2638197	41723243	9581323	135	4825											
SLC9A7	84679	hgsc.bcm.edu	37	X	46541898	46541898	+	Missense_Mutation	SNP	G	G	T	rs145339243		TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:46541898G>T	ENST00000328306.4	-	2	423	c.398C>A	c.(397-399)aCt>aAt	p.T133N		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	133					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						GTCTTCCTGAGTGCAGCTGAG	0.488																																					p.T133N	Pancreas(118;454 1696 1930 13865 39976)	.											.	.	.	0			c.C398A						.						77	58	64					X																	46541898		2203	4300	6503	SO:0001583	missense	84679	exon2			TCCTGAGTGCAGC	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.398C>A	X.37:g.46541898G>T	ENSP00000330320:p.Thr133Asn	51	0		48	4	NM_001257291	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360159	0.24598	.	.	ENSG00000065923	ENST00000328306	T	0.54479	0.57	5.96	4.13	0.48395	Cation/H+ exchanger (1);	0.363234	0.27917	N	0.017322	T	0.26702	0.0653	N	0.02181	-0.65	0.33353	D	0.571333	B	0.13594	0.008	B	0.15052	0.012	T	0.15037	-1.0451	10	0.15066	T	0.55	.	15.6837	0.77393	0.0:0.2516:0.7484:0.0	.	133	Q96T83	SL9A7_HUMAN	N	133	ENSP00000330320:T133N	ENSP00000330320:T133N	T	-	2	0	SLC9A7	46426842	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.637000	0.54324	0.607000	0.29982	0.600000	0.82982	ACT	.		0.488	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		T	46541898	G	T	46541898	3	4	30	1	0	0	0	0	1	0	0	0	14764	1029	36	3	1843	3	SLC9A7	23	46541898	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09		46541898	108728662	136	4826											
ARAF	369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	47426127	47426127	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:47426127C>T	ENST00000377045.4	+	7	841	c.647C>T	c.(646-648)cCc>cTc	p.P216L	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	216					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACGTCCACTCCCAACGTCCAT	0.662																																					p.P219L		.											.	.	.	0			c.C656T						.						76	61	66					X																	47426127		2203	4300	6503	SO:0001583	missense	369	exon7			CCACTCCCAACGT	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.647C>T	X.37:g.47426127C>T	ENSP00000366244:p.Pro216Leu	66	0		54	36	NM_001256196	P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037064	0.93630	.	.	ENSG00000078061	ENST00000377045	T	0.76186	-1.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.78456	2.415	0.80722	D	1	D;D	0.64830	0.992;0.994	P;D	0.71184	0.865;0.972	D	0.87731	0.2579	10	0.87932	D	0	.	15.4172	0.74980	0.0:1.0:0.0:0.0	.	216;82	P10398;B4DV85	ARAF_HUMAN;.	L	216	ENSP00000366244:P216L	ENSP00000366244:P216L	P	+	2	0	ARAF	47311071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.334000	0.79224	2.233000	0.73108	0.544000	0.68410	CCC	.		0.662	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			T	47426127	C	T	47426127	3	4	30	1	0	0	0	0	1	0	0	0	837	623	22	3	669	3	ARAF	23	47426127	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	884229	47426127	107844433	137	4827											
PAGE2B	389860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	55102523	55102523	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:55102523G>A	ENST00000374971.1	+	2	101	c.49G>A	c.(49-51)Gac>Aac	p.D17N	PAGE2B_ENST00000374974.3_Missense_Mutation_p.D17N	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	17										lung(3)	3						AAGAGGAAATGACCAAGAGTC	0.338																																					p.D17N		.											.	.	.	0			c.G49A						.						124	104	111					X																	55102523		2203	4300	6503	SO:0001583	missense	389860	exon2			GGAAATGACCAAG		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.49G>A	X.37:g.55102523G>A	ENSP00000364110:p.Asp17Asn	109	0		73	45	NM_001015038	A1L414	Missense_Mutation	SNP	ENST00000374971.1	37	CCDS35304.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.936230	0.34189	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.10573	2.86;2.86	1.16	0.142	0.14816	.	.	.	.	.	T	0.14787	0.0357	M	0.70275	2.135	0.09310	N	1	P	0.44380	0.834	P	0.46825	0.528	T	0.14504	-1.0470	9	0.33940	T	0.23	.	4.2155	0.10531	0.0:0.0:0.6087:0.3913	.	17	Q5JRK9	GGEE3_HUMAN	N	17	ENSP00000364113:D17N;ENSP00000364110:D17N	ENSP00000364110:D17N	D	+	1	0	PAGE2B	55119248	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.103000	0.15292	-0.004000	0.14419	0.287000	0.19450	GAC	.		0.338	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		A	55102523	G	A	55102523	3	1	30	1	0	0	0	0	1	0	0	0	11430	1290	45	3	51	3	PAGE2B	23	55102523	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	7676396	55102523	100168037	138	4828											
HEPH	9843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	65476101	65476101	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:65476101C>T	ENST00000343002.2	+	16	3489	c.2825C>T	c.(2824-2826)aCc>aTc	p.T942I	HEPH_ENST00000374727.3_Missense_Mutation_p.T945I|HEPH_ENST00000441993.2_Missense_Mutation_p.T945I|HEPH_ENST00000419594.1_Missense_Mutation_p.T753I|HEPH_ENST00000519389.1_Missense_Mutation_p.T996I|HEPH_ENST00000336279.5_Missense_Mutation_p.T675I			Q9BQS7	HEPH_HUMAN	hephaestin	942	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						AATGTGGCAACCCATGGGTCC	0.428																																					p.T996I		.											.	.	.	0			c.C2987T						.						146	133	138					X																	65476101		2203	4300	6503	SO:0001583	missense	9843	exon17			TGGCAACCCATGG	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.2825C>T	X.37:g.65476101C>T	ENSP00000343939:p.Thr942Ile	70	0		55	15	NM_138737	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	C	6.813	0.519101	0.13005	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56;-5.56	4.43	2.64	0.31445	Cupredoxin (2);	0.916992	0.09401	N	0.807274	D	0.97486	0.9177	L	0.41492	1.28	0.20196	N	0.999929	B;B;P;B	0.47034	0.031;0.013;0.889;0.002	B;B;B;B	0.43194	0.078;0.04;0.411;0.014	D	0.94135	0.7392	10	0.39692	T	0.17	.	6.8491	0.24005	0.0:0.6927:0.0:0.3073	.	996;342;753;942	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	I	996;945;675;945;753;942	ENSP00000430620:T996I;ENSP00000363859:T945I;ENSP00000337418:T675I;ENSP00000411687:T945I;ENSP00000413211:T753I;ENSP00000343939:T942I	ENSP00000337418:T675I	T	+	2	0	HEPH	65392826	0.000000	0.05858	0.473000	0.27253	0.465000	0.32709	-0.295000	0.08298	0.442000	0.26555	0.600000	0.82982	ACC	.		0.428	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65476101	C	T	65476101	3	4	30	1	0	0	0	0	1	0	0	0	7081	507	18	3	3053	3	HEPH	23	65476101	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	10373578	65476101	89794459	139	4829											
PRPS1	5631	bcgsc.ca	37	X	106888557	106888557	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:106888557C>T	ENST00000372435.4	+	5	803	c.681C>T	c.(679-681)ggC>ggT	p.G227G	PRPS1_ENST00000372418.1_Silent_p.G127G|PRPS1_ENST00000372428.4_Silent_p.G160G|PRPS1_ENST00000543248.1_Silent_p.G227G	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	227	Binding of phosphoribosylpyrophosphate. {ECO:0000255}.				5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						ACACTTGTGGCACAATCTGCC	0.502																																					p.G227G													.	PRPS1	33	0			c.C681T						.						191	161	171					X																	106888557		2203	4300	6503	SO:0001819	synonymous_variant	5631	exon5			TTGTGGCACAATC	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"PRS I", "ribose-phosphate diphosphokinase 1"	311850	"deafness, X-linked 2, perceptive, congenital"	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.681C>T	X.37:g.106888557C>T		71	0		51	4	NM_002764	B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Silent	SNP	ENST00000372435.4	37	CCDS14529.1																																																																																			.		0.502	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			T	106888557	C	T	106888557	2	4	30	1	0	0	0	0	0	0	0	1	12620	697	25	3		3	PRPS1	23	106888557	Silent	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	41412456	106888557	48382003	140	4830											
XPNPEP2	7512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	128881717	128881717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:128881717G>T	ENST00000371106.3	+	7	817	c.625G>T	c.(625-627)Gag>Tag	p.E209*		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	209						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCCCTGCAGGAGGCATTCAC	0.517																																					p.E209X		.											.	.	.	0			c.G625T						.						122	108	113					X																	128881717		2203	4299	6502	SO:0001587	stop_gained	7512	exon7			CTGCAGGAGGCAT	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.625G>T	X.37:g.128881717G>T	ENSP00000360147:p.Glu209*	46	0		43	5	NM_003399	A0AV16|O75994	Nonsense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	36	5.816141	0.96982	.	.	ENSG00000122121	ENST00000371106	.	.	.	4.82	3.01	0.34805	.	0.177349	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-15.8993	6.9144	0.24352	0.2025:0.0:0.7975:0.0	.	.	.	.	X	209	.	ENSP00000360147:E209X	E	+	1	0	XPNPEP2	128709398	0.041000	0.20044	0.611000	0.29010	0.922000	0.55478	0.518000	0.22847	0.290000	0.22444	0.513000	0.50165	GAG	.		0.517	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		T	128881717	G	T	128881717	4	4	30	1	0	0	0	0	0	1	0	0	17492	1175	41	3	651	3	XPNPEP2	23	128881717	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	21993160	128881717	26388843	141	4831											
MBNL3	55796	hgsc.bcm.edu	37	X	131526199	131526199	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:131526199G>T	ENST00000370853.3	-	3	584	c.506C>A	c.(505-507)cCa>cAa	p.P169Q	MBNL3_ENST00000538204.1_Missense_Mutation_p.P119Q|MBNL3_ENST00000370849.3_Missense_Mutation_p.P119Q|MBNL3_ENST00000370839.3_Missense_Mutation_p.P169Q|MBNL3_ENST00000394311.2_Missense_Mutation_p.P73Q|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370844.1_Missense_Mutation_p.P73Q|MBNL3_ENST00000370857.3_Missense_Mutation_p.P169Q	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	169	Pro-rich.				mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|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)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CATCAGTTTTGGGCCAACAGC	0.428																																					p.P169Q		.											.	.	.	0			c.C506A						.						114	100	105					X																	131526199		2203	4300	6503	SO:0001583	missense	55796	exon3			AGTTTTGGGCCAA	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.506C>A	X.37:g.131526199G>T	ENSP00000359890:p.Pro169Gln	117	0		99	3	NM_018388	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	G	8.054	0.766565	0.15983	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.56	2.45	0.29901	.	0.248214	0.34853	N	0.003638	T	0.11707	0.0285	N	0.00996	-1.065	0.33449	D	0.58335	B;B;B;B;B	0.22683	0.004;0.073;0.008;0.073;0.004	B;B;B;B;B	0.25405	0.009;0.042;0.02;0.06;0.009	T	0.35674	-0.9779	10	0.02654	T	1	-0.4969	6.9145	0.24352	0.0984:0.0:0.295:0.6066	.	119;169;169;119;73	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	Q	73;119;169;169;119;169;73;73;73	ENSP00000377848:P73Q;ENSP00000439618:P119Q;ENSP00000359894:P169Q;ENSP00000359890:P169Q;ENSP00000359886:P119Q;ENSP00000359876:P169Q;ENSP00000359881:P73Q;ENSP00000406014:P73Q;ENSP00000402128:P73Q	ENSP00000359876:P169Q	P	-	2	0	MBNL3	131353880	1.000000	0.71417	0.262000	0.24481	0.450000	0.32258	3.168000	0.50801	0.488000	0.27723	0.538000	0.68166	CCA	.		0.428	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		T	131526199	G	T	131526199	3	4	30	1	0	0	0	0	1	0	0	0	9393	1348	47	3	643	3	MBNL3	23	131526199	Missense_Mutation	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	2644482	131526199	23744361	142	4832											
ZIC3	7547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	136649399	136649399	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:136649399G>A	ENST00000287538.5	+	1	1099	c.549G>A	c.(547-549)caG>caA	p.Q183Q	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Silent_p.Q183Q	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	183					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)					ACAACAACCAGGTCCACCTGG	0.701																																					p.Q183Q		.											.	.	.	0			c.G549A						.						26	29	28					X																	136649399		2178	4237	6415	SO:0001819	synonymous_variant	7547	exon1			CAACCAGGTCCAC	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.549G>A	X.37:g.136649399G>A		36	0		28	11	NM_003413	B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	CCDS14663.1																																																																																			.		0.701	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			A	136649399	G	A	136649399	2	1	30	1	0	0	0	0	0	0	0	1	17728	991	35	3		3	ZIC3	23	136649399	Silent	SNP	G	TCGA-ZH-A8Y2-01A-11D-A417-09	5123200	136649399	18621161	143	4833											
SLITRK2	84631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	144904919	144904919	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y2-01A-11D-A417-09	TCGA-ZH-A8Y2-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9443f09f-550c-4111-8a6d-6a74f267b0dc	581c6971-13b1-4bda-9ea8-c3dc3280aacc	g.chrX:144904919C>T	ENST00000370490.1	+	1	5231	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P326S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P326S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P326S|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P326S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	326					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)					AAGTTTTGGACCCATCATGGT	0.537																																					p.P326S		.											.	.	.	0			c.C976T						.						79	70	73					X																	144904919		2203	4300	6503	SO:0001583	missense	84631	exon5			TTTGGACCCATCA	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.976C>T	X.37:g.144904919C>T	ENSP00000359521:p.Pro326Ser	77	0		44	5	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983871	0.74474	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.55413	0.59;0.52;0.52;0.52;0.52;0.52	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.67719	-0.5598	10	0.32370	T	0.25	-7.46	15.945	0.79787	0.0:1.0:0.0:0.0	.	326	Q9H156	SLIK2_HUMAN	S	326	ENSP00000334374:P326S;ENSP00000411681:P326S;ENSP00000359521:P326S;ENSP00000397015:P326S;ENSP00000407347:P326S;ENSP00000412010:P326S	ENSP00000334374:P326S	P	+	1	0	SLITRK2	144712611	1.000000	0.71417	0.350000	0.25708	0.886000	0.51366	5.968000	0.70413	2.365000	0.80145	0.600000	0.82982	CCC	.		0.537	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		T	144904919	C	T	144904919	3	4	30	1	0	0	0	0	1	0	0	0	14788	507	18	3	978	3	SLITRK2	23	144904919	Missense_Mutation	SNP	C	TCGA-ZH-A8Y2-01A-11D-A417-09	8255520	144904919	10365641	144	4834											
SLC25A33	84275	hgsc.bcm.edu	37	1	9640237	9640238	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:9640237_9640238insA	ENST00000302692.6	+	6	918_919	c.708_709insA	c.(709-711)atgfs	p.M237fs		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	237					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|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;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TTTTTGGACTTATGGCAGCTGC	0.416																																					p.L236fs		.											.	.	.	0			c.708_709insA						.																																			SO:0001589	frameshift_variant	84275	exon6			TGGACTTATGGCA	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"Solute carriers"	29681	protein-coding gene	gene with protein product		610816	"solute carrier family 25, member 33"			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.709dupA	1.37:g.9640238_9640238dupA	ENSP00000306328:p.Met237fs	68	0		45	23	NM_032315		Frame_Shift_Ins	INS	ENST00000302692.6	37	CCDS103.1																																																																																			.		0.416	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		A	9640238	-	A	9640237	7	5	31	1	0	1	1	0	0	0	0	0	14542	1741	61	0	730	0	SLC25A33	1	9640237	Frame_Shift_Ins	INS	-	TCGA-ZH-A8Y4-01A-11D-A417-09		9640237	239610384	1	4835											
CLCN6	1185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	11897068	11897068	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:11897068C>G	ENST00000346436.6	+	19	2045	c.1993C>G	c.(1993-1995)Ctc>Gtc	p.L665V	CLCN6_ENST00000376487.3_Missense_Mutation_p.L643V|CLCN6_ENST00000376496.3_Missense_Mutation_p.L665V|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	665					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)	p.L665I(1)		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)		ATCCAGCATCCTCACCCGGGC	0.582																																					p.L665V		.											CLCN6,trunk,malignant_melanoma,0,1	CLCN6	0	1	Substitution - Missense(1)	skin(1)	c.C1993G						.						58	56	56					1																	11897068		2203	4300	6503	SO:0001583	missense	1185	exon19			AGCATCCTCACCC	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.1993C>G	1.37:g.11897068C>G	ENSP00000234488:p.Leu665Val	21	0		10	6	NM_001286	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	.	.	.	.	.	.	.	.	.	.	C	10.64	1.405880	0.25378	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91295	-2.79;-2.79;-2.82	5.7	4.78	0.61160	.	0.199442	0.42548	N	0.000694	D	0.83622	0.5294	L	0.29908	0.895	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.78198	-0.2297	10	0.39692	T	0.17	-26.6802	9.4136	0.38507	0.0:0.7803:0.1451:0.0746	.	643;665	F8W9R3;P51797	.;CLCN6_HUMAN	V	665;643;665	ENSP00000234488:L665V;ENSP00000365670:L643V;ENSP00000365679:L665V	ENSP00000234488:L665V	L	+	1	0	CLCN6	11819655	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.249000	0.43169	1.414000	0.47017	0.561000	0.74099	CTC	.		0.582	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		G	11897068	C	G	11897068	3	3	31	1	0	0	0	0	1	0	0	0	3474	681	24	5	2077	5	CLCN6	1	11897068	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	2256831	11897068	237353553	2	4836											
TMEM200B	399474	ucsc.edu	37	1	29447458	29447458	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:29447458C>T	ENST00000420504.2	-	2	1040	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	TMEM200B_ENST00000521452.1_Missense_Mutation_p.A295T	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	295						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)		CCCAATTTGGCATAGCCCCCA	0.642																																					p.A295T													.	TMEM200B	9	0			c.G883A						.						17	19	18					1																	29447458		2202	4300	6502	SO:0001583	missense	399474	exon2			ATTTGGCATAGCC		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.883G>A	1.37:g.29447458C>T	ENSP00000428544:p.Ala295Thr	73	0		34	4	NM_001171868	Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	ENST00000420504.2	37	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651612	0.47362	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	3.34	0.38264	.	0.175913	0.26955	U	0.021643	T	0.20740	0.0499	N	0.04508	-0.205	0.29908	N	0.823784	B	0.20550	0.046	B	0.12156	0.007	T	0.11665	-1.0578	9	0.39692	T	0.17	.	11.9599	0.53003	0.0:0.9102:0.0:0.0898	.	295	Q69YZ2	T200B_HUMAN	T	295	.	ENSP00000428544:A295T	A	-	1	0	TMEM200B	29320045	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	0.558000	0.23469	2.348000	0.79779	0.655000	0.94253	GCC	.		0.642	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		T	29447458	C	T	29447458	3	4	31	1	0	0	0	0	1	0	0	0	16171	710	25	3	44	3	TMEM200B	1	29447458	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	17550390	29447458	219803163	3	4837											
SNIP1	79753	hgsc.bcm.edu	37	1	38006254	38006254	+	Missense_Mutation	SNP	G	G	A	rs143428642		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:38006254G>A	ENST00000296215.6	-	3	502	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	144	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R144W(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GAATGGCCCCGGTGTCTGTCC	0.607																																					p.R144W		.											SNIP1,rectum,carcinoma,0,1	SNIP1	0	1	Substitution - Missense(1)	large_intestine(1)	c.C430T						.	G	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	129	131	130		430	3.3	1	1	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNIP1	NM_024700.2	101	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	probably-damaging	144/397	38006254	5,13001	2203	4300	6503	SO:0001583	missense	79753	exon3			GGCCCCGGTGTCT		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.430C>T	1.37:g.38006254G>A	ENSP00000296215:p.Arg144Trp	48	0		48	3	NM_024700	Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	CCDS419.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000786	0.54254	9.08E-4	1.16E-4	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.15256	2.44	5.25	3.34	0.38264	.	0.401658	0.24638	N	0.036829	T	0.11707	0.0285	L	0.27053	0.805	0.58432	D	0.999992	B	0.22541	0.071	B	0.12156	0.007	T	0.07424	-1.0773	10	0.87932	D	0	-12.1472	8.5955	0.33712	0.0754:0.0:0.6288:0.2958	.	144	Q8TAD8	SNIP1_HUMAN	W	144;128	ENSP00000296215:R144W	ENSP00000296215:R144W	R	-	1	2	SNIP1	37778841	0.895000	0.30542	1.000000	0.80357	0.678000	0.39670	1.070000	0.30653	0.734000	0.32515	-0.150000	0.13652	CGG	0.000		0.607	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		A	38006254	G	A	38006254	3	1	31	1	0	0	0	0	1	0	0	0	14893	1115	39	1	768	1	SNIP1	1	38006254	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	8558796	38006254	211244367	4	4838											
DHCR24	1718	hgsc.bcm.edu	37	1	55352654	55352654	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:55352654C>A	ENST00000371269.3	-	1	237	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	RP11-67L3.4_ENST00000436033.1_RNA|RP11-67L3.5_ENST00000415336.1_RNA|RP11-67L3.4_ENST00000455380.1_RNA|DHCR24_ENST00000535035.1_5'Flank|RP11-67L3.4_ENST00000443284.1_RNA|RP11-67L3.4_ENST00000433690.1_RNA	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	47					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|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)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TAGTAGATATCGAAGATAAGC	0.632																																					p.D47Y	Pancreas(39;516 1021 24601 30715 32780)	.											DHCR24,bladder,carcinoma,0,1	DHCR24	0	0			c.G139T						.						50	52	51					1																	55352654		2203	4300	6503	SO:0001583	missense	1718	exon1			AGATATCGAAGAT	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.139G>T	1.37:g.55352654C>A	ENSP00000360316:p.Asp47Tyr	19	0		20	2	NM_014762	B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539945	0.45176	.	.	ENSG00000116133	ENST00000539536;ENST00000371269	D	0.85411	-1.98	5.3	4.37	0.52481	FAD-binding, type 2 (1);	0.045401	0.85682	D	0.000000	D	0.90435	0.7005	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.88353	0.2982	10	0.13853	T	0.58	-5.39	15.2735	0.73723	0.1412:0.8588:0.0:0.0	.	47	Q15392	DHC24_HUMAN	Y	47	ENSP00000360316:D47Y	ENSP00000360316:D47Y	D	-	1	0	DHCR24	55125242	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.176000	0.77643	1.426000	0.47256	0.561000	0.74099	GAT	.		0.632	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		A	55352654	C	A	55352654	3	1	31	1	0	0	0	0	1	0	0	0	4490	884	31	2	1447	2	DHCR24	1	55352654	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	17346400	55352654	193897967	5	4839											
INADL	10207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	62237282	62237282	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:62237282C>A	ENST00000371158.2	+	6	818	c.704C>A	c.(703-705)aCa>aAa	p.T235K	INADL_ENST00000316485.6_Missense_Mutation_p.T235K	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	235					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						CTAAATGATACAACTCTGCCT	0.368																																					p.T235K		.											.	.	.	0			c.C704A						.						86	79	81					1																	62237282		2203	4300	6503	SO:0001583	missense	10207	exon6			ATGATACAACTCT	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.704C>A	1.37:g.62237282C>A	ENSP00000360200:p.Thr235Lys	82	0		67	30	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	8.811	0.935183	0.18206	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.17054	2.3;2.3	4.6	1.48	0.22813	PDZ/DHR/GLGF (1);	0.706198	0.12419	N	0.470628	T	0.13628	0.0330	L	0.50333	1.59	0.09310	N	1	P;B;P	0.40834	0.554;0.361;0.73	B;B;B	0.36845	0.216;0.074;0.234	T	0.14615	-1.0466	10	0.37606	T	0.19	.	6.3462	0.21351	0.0:0.621:0.1381:0.2409	.	235;235;235	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	K	235	ENSP00000360200:T235K;ENSP00000326199:T235K	ENSP00000255202:T235K	T	+	2	0	INADL	62009870	0.000000	0.05858	0.009000	0.14445	0.113000	0.19764	0.059000	0.14322	0.931000	0.37242	0.460000	0.39030	ACA	.		0.368	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		A	62237282	C	A	62237282	3	1	31	1	0	0	0	0	1	0	0	0	7758	478	17	3	722	3	INADL	1	62237282	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	6884628	62237282	187013339	6	4840											
L1TD1	54596	hgsc.bcm.edu;broad.mit.edu	37	1	62672856	62672856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:62672856G>T	ENST00000498273.1	+	3	851	c.556G>T	c.(556-558)Gga>Tga	p.G186*		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	186										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						tgacagagatggaaatcgcaa	0.368																																					p.G186X		.											.	.	.	0			c.G556T						.						19	19	19					1																	62672856		2105	4111	6216	SO:0001587	stop_gained	54596	exon4			AGAGATGGAAATC	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.556G>T	1.37:g.62672856G>T	ENSP00000419901:p.Gly186*	92	0		100	7	NM_001164835	Q8NDA1|Q9NUV8|Q9NV78	Nonsense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	g	17.74	3.464610	0.63513	.	.	ENSG00000240563	ENST00000498273	.	.	.	2.03	-4.06	0.03986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.7621	0.34680	0.4427:0.0:0.5573:0.0	.	.	.	.	X	186	.	ENSP00000419901:G186X	G	+	1	0	L1TD1	62445444	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.944000	0.01538	-1.503000	0.01812	-1.740000	0.00687	GGA	.		0.368	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		T	62672856	G	T	62672856	4	4	31	1	0	0	0	0	0	1	0	0	8617	1349	47	3	558	3	L1TD1	1	62672856	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	435574	62672856	186577765	7	4841											
CHD1L	9557	hgsc.bcm.edu;bcgsc.ca	37	1	146724303	146724303	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:146724303G>T	ENST00000369258.4	+	2	173	c.153G>T	c.(151-153)ctG>ctT	p.L51L	CHD1L_ENST00000361293.5_Intron|RP11-337C18.10_ENST00000606856.1_RNA|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000431239.1_Silent_p.L51L	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	51					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)					CTTACCAGCTGGAGGGAGTAA	0.488																																					p.L51L		.											.	.	.	0			c.G153T						.						141	129	133					1																	146724303		2203	4300	6503	SO:0001819	synonymous_variant	9557	exon2			CCAGCTGGAGGGA	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.153G>T	1.37:g.146724303G>T		64	0		71	4	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	8.814	0.935970	0.18206	.	.	ENSG00000131778	ENST00000254086	.	.	.	5.23	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	4.7462	0.13038	0.1799:0.0:0.6481:0.1719	.	.	.	.	X	14	.	ENSP00000254086:G14X	G	+	1	0	CHD1L	145190927	1.000000	0.71417	0.979000	0.43373	0.833000	0.47200	2.889000	0.48601	0.223000	0.20920	-0.136000	0.14681	GGA	.		0.488	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		T	146724303	G	T	146724303	2	4	31	1	0	0	0	0	0	0	0	1	3331	1335	47	3		3	CHD1L	1	146724303	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	84051447	146724303	102526318	8	4842											
HDGF	3068	ucsc.edu;bcgsc.ca	37	1	156714048	156714048	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:156714048G>A	ENST00000357325.5	-	4	710	c.396C>T	c.(394-396)agC>agT	p.S132S	HDGF_ENST00000537739.1_Silent_p.S132S|HDGF_ENST00000368206.5_Silent_p.S148S|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Silent_p.S100S|HDGF_ENST00000368209.5_Silent_p.S125S	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	132	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCTCGTCGCTGCTGCCCTCTG	0.562																																					p.S148S													.	HDGF	60	0			c.C444T						.						442	379	401					1																	156714048		2203	4300	6503	SO:0001819	synonymous_variant	3068	exon4			GTCGCTGCTGCCC	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.396C>T	1.37:g.156714048G>A		32	0		35	4	NM_001126050	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Silent	SNP	ENST00000357325.5	37	CCDS1156.1																																																																																			.		0.562	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		A	156714048	G	A	156714048	2	1	31	1	0	0	0	0	0	0	0	1	7045	1310	46	3		3	HDGF	1	156714048	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	9989745	156714048	92536573	9	4843											
UHMK1	127933	broad.mit.edu	37	1	162468011	162468011	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:162468011G>T	ENST00000489294.1	+	1	379	c.221G>T	c.(220-222)cGc>cTc	p.R74L	UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_Missense_Mutation_p.R74L|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	74	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)			TATGGTTTCCGCAAAGAGAGG	0.642																																					p.R74L													.	UHMK1	65	0			c.G221T						.						21	22	22					1																	162468011		2202	4300	6502	SO:0001583	missense	127933	exon1			GTTTCCGCAAAGA	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.221G>T	1.37:g.162468011G>T	ENSP00000420270:p.Arg74Leu	32	0		52	3	NM_144624	A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114409	0.37339	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.17691	2.26;2.26	4.94	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.235404	0.44902	D	0.000402	T	0.03348	0.0097	N	0.03115	-0.41	.	.	.	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.34750	-0.9816	9	0.25106	T	0.35	-8.2846	15.3696	0.74551	0.0:0.0:1.0:0.0	.	74;74	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	L	74	ENSP00000446416:R74L;ENSP00000420270:R74L	ENSP00000420270:R74L	R	+	2	0	UHMK1	160734635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.493000	0.53266	2.715000	0.92844	0.655000	0.94253	CGC	.		0.642	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		T	162468011	G	T	162468011	3	4	31	1	0	0	0	0	1	0	0	0	17015	1087	38	2	273	2	UHMK1	1	162468011	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	5753963	162468011	86782610	10	4844											
MAEL	84944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	166963277	166963277	+	Missense_Mutation	SNP	G	G	A	rs199624416		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:166963277G>A	ENST00000367872.4	+	5	738	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	MAEL_ENST00000367870.2_Missense_Mutation_p.R134Q|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	165					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAATTCCACGAGGATTTCGA	0.338																																					p.R165Q		.											.	.	.	0			c.G494A						.	G	GLN/ARG	0,4406		0,0,2203	81	83	82		494	4.1	1	1		82	1,8595	1.2+/-3.3	0,1,4297	yes	missense	MAEL	NM_032858.1	43	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	165/435	166963277	1,13001	2203	4298	6501	SO:0001583	missense	84944	exon5			TTCCACGAGGATT	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.494G>A	1.37:g.166963277G>A	ENSP00000356846:p.Arg165Gln	79	0		141	20	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912613	0.72983	0.0	1.16E-4	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.47177	0.87;0.85;0.89	4.97	4.06	0.47325	.	0.000000	0.51477	D	0.000092	T	0.39279	0.1072	L	0.27053	0.805	0.45946	D	0.998776	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.20505	-1.0273	10	0.23891	T	0.37	.	12.345	0.55116	0.083:0.0:0.917:0.0	.	134;165	E9JVC3;Q96JY0	.;MAEL_HUMAN	Q	165;134;134	ENSP00000356846:R165Q;ENSP00000356844:R134Q;ENSP00000402143:R134Q	ENSP00000356844:R134Q	R	+	2	0	MAEL	165229901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.950000	0.70265	1.324000	0.45282	0.591000	0.81541	CGA	0.001		0.338	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		A	166963277	G	A	166963277	3	1	31	1	0	0	0	0	1	0	0	0	9190	1058	37	1	512	1	MAEL	1	166963277	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	4495266	166963277	82287344	11	4845											
PRG4	10216	broad.mit.edu	37	1	186276029	186276029	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:186276029C>A	ENST00000445192.2	+	7	1223	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H	PRG4_ENST00000367483.4_Missense_Mutation_p.P352H|PRG4_ENST00000367486.3_Missense_Mutation_p.P350H|PRG4_ENST00000367484.3_Missense_Mutation_p.P352H|PRG4_ENST00000367485.4_Missense_Mutation_p.P300H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	393	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						CCCACCACTCCCAAGGAGCCT	0.637																																					p.P393H													.	PRG4	259	0			c.C1178A						.						100	97	98					1																	186276029		2203	4294	6497	SO:0001583	missense	10216	exon7			CCACTCCCAAGGA	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.1178C>A	1.37:g.186276029C>A	ENSP00000399679:p.Pro393His	145	0		197	5	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.150	0.395938	0.11638	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06687	3.32;3.27;3.46;3.36;3.47	2.98	1.91	0.25777	.	.	.	.	.	T	0.12732	0.0309	L	0.32530	0.975	0.09310	N	1	D;D;P;D	0.61697	0.99;0.972;0.953;0.972	P;P;P;P	0.57548	0.823;0.726;0.536;0.726	T	0.20273	-1.0280	8	.	.	.	.	9.1688	0.37067	0.0:0.7737:0.2263:0.0	.	259;300;393;352	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	350;352;259;352;300;393	ENSP00000356456:P350H;ENSP00000356454:P352H;ENSP00000356453:P352H;ENSP00000356455:P300H;ENSP00000399679:P393H	.	P	+	2	0	PRG4	184542652	0.000000	0.05858	0.070000	0.20053	0.015000	0.08874	0.964000	0.29306	1.393000	0.46605	0.478000	0.44815	CCC	.		0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		A	186276029	C	A	186276029	3	1	31	1	0	0	0	0	1	0	0	0	12523	623	22	3	1200	3	PRG4	1	186276029	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	19312752	186276029	62974592	12	4846											
SLC30A1	7779	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	211749440	211749445	+	In_Frame_Del	DEL	AAAAGT	AAAAGT	-			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	AAAAGT	AAAAGT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:211749440_211749445delAAAAGT	ENST00000367001.4	-	2	938_943	c.809_814delACTTTT	c.(808-816)tacttttct>tct	p.YF270del		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	270					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCTTTCCAAGAAAAGTAAAAGACTAA	0.403																																					p.270_272del		.											SLC30A1,NS,carcinoma,0,1	SLC30A1	0	0			c.810_815del						.																																			SO:0001651	inframe_deletion	7779	exon2			TCCAAGAAAAGTA	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.809_814delACTTTT	1.37:g.211749440_211749445delAAAAGT	ENSP00000355968:p.Tyr270_Phe271del	62	0		74	26	NM_021194	Q0VAK9|Q9BZF6	In_Frame_Del	DEL	ENST00000367001.4	37	CCDS1499.1																																																																																			.		0.403	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			-	211749445	AAAAGT	-	211749440	7	5	31	1	0	1	0	1	0	0	0	0	14598	246	9	0	713	0	SLC30A1	1	211749440	In_Frame_Del	DEL	AAAAGT	TCGA-ZH-A8Y4-01A-11D-A417-09	25473411	211749440	37501181	13	4847											
HHIPL2	79802	hgsc.bcm.edu	37	1	222715437	222715437	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr1:222715437G>T	ENST00000343410.6	-	3	1093	c.1035C>A	c.(1033-1035)ggC>ggA	p.G345G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	345					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)		AGCCATCCAGGCCAAAAAGAA	0.483																																					p.G345G		.											.	.	.	0			c.C1035A						.						72	67	69					1																	222715437		2203	4300	6503	SO:0001819	synonymous_variant	79802	exon3			ATCCAGGCCAAAA	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.1035C>A	1.37:g.222715437G>T		57	0		69	4	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	CCDS1530.2																																																																																			.		0.483	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222715437	G	T	222715437	2	4	31	1	0	0	0	0	0	0	0	1	7121	1190	42	3		3	HHIPL2	1	222715437	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	10965997	222715437	26535184	14	4848											
PXDN	7837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	1668821	1668821	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:1668821A>G	ENST00000252804.4	-	11	1367	c.1317T>C	c.(1315-1317)ccT>ccC	p.P439P	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	439	Ig-like C2-type 3.				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)		CTCTGTCCTGAGGCGTCACAG	0.537																																					p.P439P		.											.	.	.	0			c.T1317C						.						45	48	47					2																	1668821		1936	4147	6083	SO:0001819	synonymous_variant	7837	exon11			GTCCTGAGGCGTC	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.1317T>C	2.37:g.1668821A>G		72	0		76	17	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	A	0.569	-0.842102	0.02671	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.55	-11.1	0.00147	.	.	.	.	.	T	0.31544	0.0800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46275	-0.9203	4	.	.	.	-22.2517	1.4007	0.02270	0.1402:0.2257:0.2639:0.3702	.	.	.	.	P	435	.	.	L	-	2	0	PXDN	1647828	0.008000	0.16893	0.000000	0.03702	0.052000	0.14988	-0.810000	0.04505	-3.562000	0.00141	-2.409000	0.00222	CTC	.		0.537	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		G	1668821	A	G	1668821	2	3	31	1	0	0	0	0	0	0	0	1	12892	291	11	4		4	PXDN	2	1668821	Silent	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09		1668821	241530552	15	4849											
HADHB	3032	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	26512787	26512787	+	Splice_Site	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:26512787G>A	ENST00000317799.5	+	16	1495	c.1391G>A	c.(1390-1392)gGc>gAc	p.G464D	HADHB_ENST00000545822.1_Splice_Site_p.G442D|HADHB_ENST00000405867.3_Splice_Site_p.G341D|HADHB_ENST00000537713.1_Splice_Site_p.G449D|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	464					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)					TCTTTACAGGGCCATGCTATG	0.418																																					p.G464D		.											.	.	.	0			c.G1391A						.						185	172	177					2																	26512787		2203	4300	6503	SO:0001630	splice_region_variant	3032	exon16			TACAGGGCCATGC		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.1390-1G>A	2.37:g.26512787G>A		60	0		68	13	NM_000183	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679168	0.88542	.	.	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.62	5.62	0.85841	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.162618	0.53938	D	0.000058	D	0.98988	0.9655	H	0.99825	4.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.98917	1.0782	10	0.87932	D	0	-12.8745	16.4413	0.83901	0.0:0.0:1.0:0.0	.	449;442;341;464	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	D	464;341;449;442	ENSP00000325136:G464D;ENSP00000385411:G341D;ENSP00000444295:G449D;ENSP00000442665:G442D	ENSP00000325136:G464D	G	+	2	0	HADHB	26366291	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.707000	0.74654	2.657000	0.90304	0.650000	0.86243	GGC	.		0.418	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	Missense_Mutation	A	26512787	G	A	26512787	5	1	31	1	0	0	0	0	0	0	1	0	6971	1217	42	3	1449	3	HADHB	2	26512787	Splice_Site	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	24843966	26512787	216686586	16	4850											
GALM	130589	hgsc.bcm.edu	37	2	38958894	38958894	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:38958894G>T	ENST00000272252.5	+	6	1046	c.794G>T	c.(793-795)aGc>aTc	p.S265I	GALM_ENST00000410063.1_Missense_Mutation_p.S117I	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	265					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)				CATGCTGCAAGCGGGCGGGTA	0.527																																					p.S265I		.											.	.	.	0			c.G794T						.						74	77	76					2																	38958894		2203	4300	6503	SO:0001583	missense	130589	exon6			CTGCAAGCGGGCG		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.794G>T	2.37:g.38958894G>T	ENSP00000272252:p.Ser265Ile	38	0		35	4	NM_138801	Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431980	0.43122	.	.	ENSG00000143891	ENST00000272252;ENST00000410063;ENST00000434934	T;T;T	0.54866	0.55;0.74;0.55	5.94	5.02	0.67125	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.082180	0.85682	D	0.000000	T	0.81983	0.4938	H	0.96633	3.855	0.58432	D	0.999994	D	0.76494	0.999	D	0.71656	0.974	D	0.87894	0.2686	10	0.87932	D	0	-29.2819	18.4536	0.90712	0.0:0.1276:0.8724:0.0	.	265	Q96C23	GALM_HUMAN	I	265;117;145	ENSP00000272252:S265I;ENSP00000386233:S117I;ENSP00000399473:S145I	ENSP00000272252:S265I	S	+	2	0	GALM	38812398	1.000000	0.71417	0.227000	0.23927	0.110000	0.19582	4.075000	0.57584	2.812000	0.96745	0.557000	0.71058	AGC	.		0.527	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		T	38958894	G	T	38958894	3	4	31	1	0	0	0	0	1	0	0	0	6230	971	34	3	816	3	GALM	2	38958894	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	12446107	38958894	204240479	17	4851											
INHBB	3625	hgsc.bcm.edu	37	2	121107289	121107289	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:121107289G>T	ENST00000295228.3	+	2	1109	c.1063G>T	c.(1063-1065)Gtg>Ttg	p.V355L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	355					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)				CACGGCTGTGGTGAACCAGTA	0.617																																					p.V355L		.											INHBB,caecum,carcinoma,0,1	INHBB	0	0			c.G1063T						.						49	47	48					2																	121107289		2203	4300	6503	SO:0001583	missense	3625	exon2			GCTGTGGTGAACC		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.1063G>T	2.37:g.121107289G>T	ENSP00000295228:p.Val355Leu	37	0		42	3	NM_002193	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516631	0.44763	.	.	ENSG00000163083	ENST00000295228	D	0.84589	-1.87	4.57	4.57	0.56435	Transforming growth factor-beta, C-terminal (3);	0.000000	0.64402	D	0.000001	T	0.76219	0.3957	N	0.12853	0.265	0.51767	D	0.999939	B	0.28880	0.226	B	0.34991	0.193	T	0.74393	-0.3680	10	0.34782	T	0.22	-23.1343	16.2785	0.82657	0.0:0.0:1.0:0.0	.	355	P09529	INHBB_HUMAN	L	355	ENSP00000295228:V355L	ENSP00000295228:V355L	V	+	1	0	INHBB	120823759	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.556000	0.73932	2.368000	0.80403	0.462000	0.41574	GTG	.		0.617	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			T	121107289	G	T	121107289	3	4	31	1	0	0	0	0	1	0	0	0	7769	1261	44	3	1069	3	INHBB	2	121107289	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	82148395	121107289	122092084	18	4852											
GTDC1	79712	hgsc.bcm.edu	37	2	144709619	144709619	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:144709619G>T	ENST00000392869.2	-	10	1375	c.1223C>A	c.(1222-1224)cCt>cAt	p.P408H	GTDC1_ENST00000241391.5_Missense_Mutation_p.P323H|GTDC1_ENST00000409298.1_Missense_Mutation_p.P290H|GTDC1_ENST00000542155.1_Missense_Mutation_p.P408H|GTDC1_ENST00000344850.4_Missense_Mutation_p.P408H|GTDC1_ENST00000409214.1_Missense_Mutation_p.P408H|GTDC1_ENST00000392867.3_Missense_Mutation_p.P323H|GTDC1_ENST00000463875.2_Missense_Mutation_p.P279H|AC016910.1_ENST00000422799.1_RNA	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	408					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)		AAGCTGTTCAGGTGTAGAATA	0.323																																					p.P408H		.											.	.	.	0			c.C1223A						.						83	87	86					2																	144709619		2203	4297	6500	SO:0001583	missense	79712	exon11			TGTTCAGGTGTAG	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.1223C>A	2.37:g.144709619G>T	ENSP00000376608:p.Pro408His	75	0		86	4	NM_001006636	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797709	0.50208	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T;T	0.81415	0.81;0.81;0.89;-1.49;0.81;0.89;0.81;0.78	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	0.999;0.927;0.999;1.0	D	0.88218	0.2895	10	0.49607	T	0.09	-13.8718	19.3137	0.94202	0.0:0.0:1.0:0.0	.	408;323;290;408	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62	.;.;.;GTDC1_HUMAN	H	408;408;323;290;408;323;408;279	ENSP00000376608:P408H;ENSP00000386581:P408H;ENSP00000376606:P323H;ENSP00000386691:P290H;ENSP00000438323:P408H;ENSP00000241391:P323H;ENSP00000339750:P408H;ENSP00000437964:P279H	ENSP00000241391:P323H	P	-	2	0	GTDC1	144426089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.399000	0.97285	2.634000	0.89283	0.650000	0.86243	CCT	.		0.323	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		T	144709619	G	T	144709619	3	4	31	1	0	0	0	0	1	0	0	0	6878	1000	35	3	161	3	GTDC1	2	144709619	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	23602330	144709619	98489754	19	4853											
ITGA4	3676	hgsc.bcm.edu;bcgsc.ca	37	2	182395369	182395369	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:182395369G>T	ENST00000397033.2	+	24	3087	c.2657G>T	c.(2656-2658)aGg>aTg	p.R886M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	886					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)	ACTGATAAGAGGCTATTGGTA	0.403																																					p.R886M		.											.	.	.	0			c.G2657T						.						207	185	192					2																	182395369		1897	4124	6021	SO:0001583	missense	3676	exon24			ATAAGAGGCTATT		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.2657G>T	2.37:g.182395369G>T	ENSP00000380227:p.Arg886Met	102	0		70	4	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341415	0.60963	.	.	ENSG00000115232	ENST00000397033	T	0.48836	0.8	5.24	3.24	0.37175	.	0.089250	0.85682	N	0.000000	T	0.58708	0.2141	M	0.61703	1.905	0.41124	D	0.985832	D	0.76494	0.999	D	0.68765	0.96	T	0.58272	-0.7665	10	0.87932	D	0	.	5.6021	0.17359	0.1043:0.0:0.6561:0.2397	.	886	P13612	ITA4_HUMAN	M	886	ENSP00000380227:R886M	ENSP00000380227:R886M	R	+	2	0	ITGA4	182103614	0.996000	0.38824	0.943000	0.38184	0.970000	0.65996	2.710000	0.47169	0.502000	0.28037	0.563000	0.77884	AGG	.		0.403	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182395369	G	T	182395369	3	4	31	1	0	0	0	0	1	0	0	0	7905	1000	35	3	2751	3	ITGA4	2	182395369	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	37685750	182395369	60804004	20	4854											
ARPC2	10109	hgsc.bcm.edu	37	2	219104121	219104121	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:219104121G>A	ENST00000295685.10	+	6	724	c.463G>A	c.(463-465)Gag>Aag	p.E155K	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.E155K	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	155					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CAGGTATGTTGAGTCTAAAAA	0.413																																					p.E155K		.											ARPC2,right_lower_lobe,carcinoma,0,1	ARPC2	0	0			c.G463A						.						136	119	125					2																	219104121		2203	4300	6503	SO:0001583	missense	10109	exon6			TATGTTGAGTCTA	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.463G>A	2.37:g.219104121G>A	ENSP00000295685:p.Glu155Lys	63	0		50	2	NM_005731	Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145695	0.57044	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	L	0.33245	0.995	0.80722	D	1	B	0.17465	0.022	B	0.22753	0.041	T	0.50988	-0.8762	9	0.02654	T	1	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	155	O15144	ARPC2_HUMAN	K	155	.	ENSP00000295685:E155K	E	+	1	0	ARPC2	218812366	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GAG	.		0.413	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		A	219104121	G	A	219104121	3	1	31	1	0	0	0	0	1	0	0	0	972	1291	45	3	485	3	ARPC2	2	219104121	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	36708752	219104121	24095252	21	4855											
STK11IP	114790	hgsc.bcm.edu	37	2	220473349	220473349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:220473349G>T	ENST00000456909.1	+	15	1738	c.1648G>T	c.(1648-1650)Gag>Tag	p.E550*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.E561*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				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)		GGAGGGGCCTGAGGGCGTACG	0.607																																					p.E561X		.											STK11IP_ENST00000295641,NS,carcinoma,0,3	STK11IP_ENST00000295641	0	0			c.G1681T						.						50	55	53					2																	220473349		1986	4143	6129	SO:0001587	stop_gained	114790	exon15			GGGCCTGAGGGCG	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.1648G>T	2.37:g.220473349G>T	ENSP00000389383:p.Glu550*	37	0		34	2	NM_052902	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.664537	0.88251	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	.	.	.	4.5	1.56	0.23342	.	0.842078	0.10336	N	0.686940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.6098	7.1985	0.25866	0.0925:0.3295:0.578:0.0	.	.	.	.	X	550;529;561	.	ENSP00000295641:E561X	E	+	1	0	STK11IP	220181593	0.005000	0.15991	0.000000	0.03702	0.296000	0.27459	0.676000	0.25247	0.115000	0.18071	0.561000	0.74099	GAG	.		0.607	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220473349	G	T	220473349	4	4	31	1	0	0	0	0	0	1	0	0	15335	1291	45	3	1739	3	STK11IP	2	220473349	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	1369228	220473349	22726024	22	4856											
SERPINE2	5270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	224856592	224856592	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:224856592G>A	ENST00000258405.4	-	4	855	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	SERPINE2_ENST00000409304.1_Missense_Mutation_p.R205C|SERPINE2_ENST00000409840.3_Missense_Mutation_p.R205C|SERPINE2_ENST00000447280.2_Missense_Mutation_p.R217C	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	205					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)		ACGAAAGTGCGTTTCTTTGTG	0.527																																					p.R217C		.											.	.	.	0			c.C649T						.						162	122	136					2																	224856592		2203	4300	6503	SO:0001583	missense	5270	exon4			AAGTGCGTTTCTT	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.613C>T	2.37:g.224856592G>A	ENSP00000258405:p.Arg205Cys	54	0		78	14	NM_001136530	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835690	0.50951	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.8	5.8	0.92144	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.93119	0.6523	10	0.62326	D	0.03	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	217;205	B4DIF2;P07093	.;GDN_HUMAN	C	205;205;205;217;205	ENSP00000386412:R205C;ENSP00000258405:R205C;ENSP00000386969:R205C;ENSP00000415786:R217C;ENSP00000408452:R205C	ENSP00000258405:R205C	R	-	1	0	SERPINE2	224564836	1.000000	0.71417	0.248000	0.24265	0.171000	0.22731	3.936000	0.56568	2.732000	0.93576	0.650000	0.86243	CGC	.		0.527	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		A	224856592	G	A	224856592	3	1	31	1	0	0	0	0	1	0	0	0	14157	1145	40	1	607	1	SERPINE2	2	224856592	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	4383243	224856592	18342781	23	4857											
COL6A3	1293	hgsc.bcm.edu	37	2	238283545	238283545	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr2:238283545G>T	ENST00000295550.4	-	8	3641	c.3189C>A	c.(3187-3189)gaC>gaA	p.D1063E	COL6A3_ENST00000346358.4_Missense_Mutation_p.D863E|COL6A3_ENST00000347401.3_Missense_Mutation_p.D862E|COL6A3_ENST00000392003.2_Missense_Mutation_p.D656E|COL6A3_ENST00000392004.3_Missense_Mutation_p.D857E|COL6A3_ENST00000472056.1_Missense_Mutation_p.D456E|COL6A3_ENST00000409809.1_Missense_Mutation_p.D857E|COL6A3_ENST00000353578.4_Missense_Mutation_p.D857E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1063	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)		CGCGGACCCGGTCCTGGCCCA	0.592																																					p.D1063E		.											COL6A3_ENST00000392004,NS,carcinoma,0,2	COL6A3_ENST00000392004	0	0			c.C3189A						.						57	57	57					2																	238283545		2203	4300	6503	SO:0001583	missense	1293	exon8			GACCCGGTCCTGG	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.3189C>A	2.37:g.238283545G>T	ENSP00000295550:p.Asp1063Glu	27	0		23	2	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060470	0.55432	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.33	1.16	0.20824	von Willebrand factor, type A (3);	0.103755	0.41712	D	0.000839	D	0.87075	0.6087	M	0.62266	1.93	0.44012	D	0.996729	D;D;P;D;P	0.63880	0.993;0.97;0.868;0.991;0.722	D;P;P;D;B	0.71414	0.973;0.868;0.491;0.937;0.393	D	0.84811	0.0790	10	0.52906	T	0.07	.	9.8847	0.41255	0.2959:0.0:0.7041:0.0	.	456;656;857;857;1063	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1063;862;857;456;857;863;857;656	ENSP00000295550:D1063E;ENSP00000315609:D862E;ENSP00000315873:D857E;ENSP00000418285:D456E;ENSP00000386844:D857E;ENSP00000295546:D863E;ENSP00000375861:D857E;ENSP00000375860:D656E	ENSP00000295550:D1063E	D	-	3	2	COL6A3	237948284	1.000000	0.71417	0.514000	0.27761	0.827000	0.46813	2.739000	0.47409	0.246000	0.21394	0.655000	0.94253	GAC	.		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238283545	G	T	238283545	3	4	31	1	0	0	0	0	1	0	0	0	3708	1252	44	3	6539	3	COL6A3	2	238283545	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	13426953	238283545	4915828	24	4858											
PTH1R	5745	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	46940168	46940168	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:46940168C>T	ENST00000313049.5	+	7	858	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Missense_Mutation_p.R219C|PTH1R_ENST00000449590.1_Missense_Mutation_p.R219C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R219C			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	219					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)	GCACTGCACGCGCAACTACAT	0.652																																					p.R219C		.											.	.	.	0			c.C655T						.						55	48	50					3																	46940168		2203	4300	6503	SO:0001583	missense	5745	exon8			TGCACGCGCAACT		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.655C>T	3.37:g.46940168C>T	ENSP00000321999:p.Arg219Cys	19	0		15	7	NM_001184744	Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897650	0.72639	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	4.71	3.8	0.43715	GPCR, family 2-like (1);	.	.	.	.	T	0.68879	0.3049	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.75082	-0.3443	9	0.87932	D	0	.	9.3578	0.38177	0.1725:0.681:0.1465:0.0	.	219	Q03431	PTH1R_HUMAN	C	219;219;219;219;219;417	ENSP00000402723:R219C;ENSP00000411424:R219C;ENSP00000400977:R219C;ENSP00000413774:R219C;ENSP00000321999:R219C	ENSP00000321999:R219C	R	+	1	0	PTH1R	46915172	0.692000	0.27719	0.959000	0.39883	0.981000	0.71138	1.372000	0.34261	0.902000	0.36520	0.561000	0.74099	CGC	.		0.652	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		T	46940168	C	T	46940168	3	4	31	1	0	0	0	0	1	0	0	0	12801	768	27	1	681	1	PTH1R	3	46940168	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09		46940168	151082262	25	4859											
SETD2	29072	hgsc.bcm.edu	37	3	47125234	47125235	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:47125234_47125235insA	ENST00000409792.3	-	12	6077_6078	c.6035_6036insT	c.(6034-6036)ctcfs	p.L2012fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2012					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.L2012R(1)|p.L1509R(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)		AACTGTCCAGGAGTTTGGTGGC	0.411			"N, F, S, Mis"		clear cell renal carcinoma																																p.L2012fs		.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.6036_6037insT						.																																			SO:0001589	frameshift_variant	29072	exon12			GTCCAGGAGTTTG	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.6036dupT	3.37:g.47125235_47125235dupA	ENSP00000386759:p.Leu2012fs	106	0		55	29	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	CCDS2749.2																																																																																			.		0.411	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47125235	-	A	47125234	7	5	31	1	0	1	1	0	0	0	0	0	14176	1161	41	0	1698	0	SETD2	3	47125234	Frame_Shift_Ins	INS	-	TCGA-ZH-A8Y4-01A-11D-A417-09	185066	47125234	150897196	26	4860											
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	52437221	52437221	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:52437221delT	ENST00000460680.1	-	14	2294	c.1823delA	c.(1822-1824)gacfs	p.D608fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.D590fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTCTCTGCTGTCCGTGGCTTC	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.D608fs	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	.	.	0			c.1824delC						.						117	110	113					3																	52437221		2203	4300	6503	SO:0001589	frameshift_variant	8314	exon14			CTGCTGTCCGTGG	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1823delA	3.37:g.52437221delT	ENSP00000417132:p.Asp608fs	33	0		22	15	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52437221	T	-	52437221	7	5	31	1	0	1	0	1	0	0	0	0	1312	1667	58	0	382	0	BAP1	3	52437221	Frame_Shift_Del	DEL	T	TCGA-ZH-A8Y4-01A-11D-A417-09	5311987	52437221	145585209	27	4861											
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52662939	52662939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:52662939G>A	ENST00000296302.7	-	12	1415	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R472*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R472*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R472*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R472*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R440*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R472*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R472*			Q86U86	PB1_HUMAN	polybromo 1	472					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)		TTTAGAACTCGCTTGTAGATG	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.R472X		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	.	.	0			c.C1414T						.						101	95	97					3																	52662939		2203	4300	6503	SO:0001587	stop_gained	55193	exon13			GAACTCGCTTGTA	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.1414C>T	3.37:g.52662939G>A	ENSP00000296302:p.Arg472*	74	0		41	11	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	37	6.182101	0.97352	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.4	1.45	0.22620	.	0.136047	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-21.0362	11.5495	0.50713	0.0:0.1018:0.3723:0.5259	.	.	.	.	X	440;472;472;472;472;472;472;472;472;416	.	ENSP00000296302:R472X	R	-	1	2	PBRM1	52637979	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.206000	0.42779	-0.016000	0.14127	-0.309000	0.09137	CGA	.		0.318	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52662939	G	A	52662939	4	1	31	1	0	0	0	0	0	1	0	0	11530	1095	38	1	3562	1	PBRM1	3	52662939	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	225718	52662939	145359491	28	4862											
PRKCD	5580	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	53217486	53217486	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:53217486A>C	ENST00000394729.2	+	8	1004	c.676A>C	c.(676-678)Aac>Cac	p.N226H	PRKCD_ENST00000330452.3_Missense_Mutation_p.N226H	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	226					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)	AGAACGCTTCAACATCGACAT	0.587																																					p.N226H		.											.	.	.	0			c.A676C						.						156	125	135					3																	53217486		2203	4300	6503	SO:0001583	missense	5580	exon8			CGCTTCAACATCG		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.676A>C	3.37:g.53217486A>C	ENSP00000378217:p.Asn226His	62	0		43	31	NM_212539	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.794825	0.50102	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	D;D	0.83837	-1.77;-1.77	5.06	5.06	0.68205	.	0.218173	0.56097	D	0.000040	T	0.81545	0.4845	M	0.73962	2.25	0.49687	D	0.999814	B	0.12630	0.006	B	0.15484	0.013	T	0.79344	-0.1842	10	0.56958	D	0.05	.	10.4572	0.44557	0.8368:0.1632:0.0:0.0	.	226	Q05655	KPCD_HUMAN	H	226	ENSP00000378217:N226H;ENSP00000331602:N226H	ENSP00000331602:N226H	N	+	1	0	PRKCD	53192526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.142000	0.71750	1.914000	0.55421	0.460000	0.39030	AAC	.		0.587	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			C	53217486	A	C	53217486	3	2	31	1	0	0	0	0	1	0	0	0	12551	130	5	4	702	4	PRKCD	3	53217486	Missense_Mutation	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09	554547	53217486	144804944	29	4863											
NFKBIZ	64332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	101572374	101572374	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:101572374G>T	ENST00000326172.5	+	5	1119	c.1004G>T	c.(1003-1005)tGc>tTc	p.C335F	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.C235F	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	335	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TCACAGTTTTGCCCAAACCAA	0.453																																					p.C335F		.											.	.	.	0			c.G1004T						.						123	122	122					3																	101572374		2203	4300	6503	SO:0001583	missense	64332	exon5			AGTTTTGCCCAAA	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1004G>T	3.37:g.101572374G>T	ENSP00000325663:p.Cys335Phe	85	0		41	21	NM_031419	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060496	0.08339	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326172	T;T;T	0.54675	0.6;0.56;0.61	5.6	3.7	0.42460	.	0.359311	0.30419	N	0.009668	T	0.37785	0.1016	L	0.43923	1.385	0.38246	D	0.941456	B	0.16166	0.016	B	0.12156	0.007	T	0.19128	-1.0315	10	0.09338	T	0.73	-17.2492	8.1245	0.30990	0.0729:0.0:0.6557:0.2714	.	335	Q9BYH8	IKBZ_HUMAN	F	235;235;335	ENSP00000419800:C235F;ENSP00000377618:C235F;ENSP00000325663:C335F	ENSP00000325663:C335F	C	+	2	0	NFKBIZ	103055064	0.995000	0.38212	0.966000	0.40874	0.013000	0.08279	1.540000	0.36115	1.349000	0.45751	0.563000	0.77884	TGC	.		0.453	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		T	101572374	G	T	101572374	3	4	31	1	0	0	0	0	1	0	0	0	10422	1319	46	3	1022	3	NFKBIZ	3	101572374	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	48354888	101572374	96450056	30	4864											
PVRL3	25945	hgsc.bcm.edu;bcgsc.ca	37	3	110852607	110852607	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:110852607G>T	ENST00000485303.1	+	6	1470	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	399					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AACAATTAAGGATGACACAAT	0.443																																					p.D399Y		.											.	.	.	0			c.G1195T						.						164	160	162					3																	110852607		2203	4300	6503	SO:0001583	missense	25945	exon6			ATTAAGGATGACA	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1195G>T	3.37:g.110852607G>T	ENSP00000418070:p.Asp399Tyr	88	0		62	4	NM_015480	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926679	0.34002	.	.	ENSG00000177707	ENST00000485303	T	0.16324	2.35	5.62	4.73	0.59995	.	0.290655	0.42053	D	0.000766	T	0.21962	0.0529	L	0.46157	1.445	0.80722	D	1	P	0.42785	0.79	P	0.44732	0.459	T	0.01192	-1.1423	10	0.56958	D	0.05	.	14.3042	0.66375	0.0:0.1498:0.8502:0.0	.	399	Q9NQS3	PVRL3_HUMAN	Y	399	ENSP00000418070:D399Y	ENSP00000418070:D399Y	D	+	1	0	PVRL3	112335297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.706000	0.74649	1.351000	0.45789	0.467000	0.42956	GAT	.		0.443	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		T	110852607	G	T	110852607	3	4	31	1	0	0	0	0	1	0	0	0	12886	1174	41	3	1217	3	PVRL3	3	110852607	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	9280233	110852607	87169823	31	4865											
WDR52	55779	hgsc.bcm.edu	37	3	113010415	113010415	+	Missense_Mutation	SNP	C	C	T	rs549546748		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:113010415C>T	ENST00000393845.2	-	35	5620	c.5554G>A	c.(5554-5556)Gca>Aca	p.A1852T	WDR52_ENST00000308346.6_3'UTR	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CAAAGGTCTGCGGGCTGTATC	0.438													C|||	1	0.000199681	0	0	5008	,	,		19977	0		0	False		,,,				2504	0.001				p.A1852T		.											.	.	.	0			c.G5554A						.						205	199	201					3																	113010415		692	1591	2283	SO:0001583	missense	55779	exon35			GGTCTGCGGGCTG																												ENST00000393845.2:c.5554G>A	3.37:g.113010415C>T	ENSP00000377428:p.Ala1852Thr	78	0		61	4	NM_001164496		Missense_Mutation	SNP	ENST00000393845.2	37	CCDS54624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.73|10.73	1.432321|1.432321	0.25813|0.25813	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845|ENST00000465636	T|.	0.10668|.	2.85|.	5.23|5.23	-10.5|-10.5	0.00291|0.00291	.|.	0.528659|.	0.14262|.	U|.	0.330761|.	T|T	0.10766|0.10766	0.0263|0.0263	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.10965|0.10965	-1.0607|-1.0607	10|5	0.32370|.	T|.	0.25|.	0.0741|0.0741	1.8868|1.8868	0.03240|0.03240	0.2161:0.2926:0.3423:0.149|0.2161:0.2926:0.3423:0.149	.|.	1852|.	Q96MT7-2|.	.|.	T|H	1852|988	ENSP00000377428:A1852T|.	ENSP00000377428:A1852T|.	A|R	-|-	1|2	0|0	WDR52|WDR52	114493105|114493105	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-1.819000|-1.819000	0.01716|0.01716	-2.099000|-2.099000	0.00849|0.00849	-0.459000|-0.459000	0.05422|0.05422	GCA|CGC	.		0.438	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	113010415	C	T	113010415	3	4	31	1	0	0	0	0	1	0	0	0	17353	768	27	1	14	1	WDR52	3	113010415	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	2157808	113010415	85012015	32	4866											
THPO	7066	hgsc.bcm.edu	37	3	184090560	184090560	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:184090560G>T	ENST00000204615.7	-	6	1017	c.803C>A	c.(802-804)aCc>aAc	p.T268N	THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.D229E|THPO_ENST00000445696.2_Missense_Mutation_p.T264N	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	268					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCTCCTAGGGTCCTGCGTGA	0.562																																					p.T268N		.											THPO,NS,carcinoma,0,1	THPO	0	0			c.C803A						.						165	174	171					3																	184090560		2203	4300	6503	SO:0001583	missense	7066	exon6			CCTAGGGTCCTGC		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.803C>A	3.37:g.184090560G>T	ENSP00000204615:p.Thr268Asn	33	0		49	2	NM_000460	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.782|6.782	0.513301|0.513301	0.12944|0.12944	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000421442|ENST00000204615;ENST00000445696;ENST00000353488	T|T;T	0.38077|0.36340	1.16|1.26;1.27	4.59|4.59	3.55|3.55	0.40652|0.40652	.|Four-helical cytokine, core (1);	.|0.504141	.|0.16767	.|N	.|0.200344	T|T	0.26048|0.26048	0.0635|0.0635	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|P;P	0.33238|0.48503	0.403|0.911;0.856	B|P;B	0.22601|0.44561	0.04|0.453;0.266	T|T	0.08472|0.08472	-1.0720|-1.0720	9|10	0.19147|0.87932	T|D	0.46|0	-9.6195|-9.6195	6.5569|6.5569	0.22466|0.22466	0.169:0.0:0.831:0.0|0.169:0.0:0.831:0.0	.|.	229|264;268	F8W6L1|P40225-2;P40225	.|.;TPO_HUMAN	E|N	229|268;264;229	ENSP00000411704:D229E|ENSP00000204615:T268N;ENSP00000410763:T264N	ENSP00000411704:D229E|ENSP00000204615:T268N	D|T	-|-	3|2	2|0	THPO|THPO	185573254|185573254	0.059000|0.059000	0.20769|0.20769	0.070000|0.070000	0.20053|0.20053	0.414000|0.414000	0.31173|0.31173	0.882000|0.882000	0.28186|0.28186	0.891000|0.891000	0.36235|0.36235	0.467000|0.467000	0.42956|0.42956	GAC|ACC	.		0.562	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		T	184090560	G	T	184090560	3	4	31	1	0	0	0	0	1	0	0	0	15919	1261	44	3	262	3	THPO	3	184090560	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	71080145	184090560	13931870	33	4867											
THPO	7066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	184091269	184091269	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr3:184091269G>A	ENST00000204615.7	-	5	544	c.330C>T	c.(328-330)ctC>ctT	p.L110L	THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Silent_p.L110L|THPO_ENST00000445696.2_Silent_p.L110L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	110					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCCCCAGGAGGGATGAGA	0.597																																					p.L110L		.											.	.	.	0			c.C330T						.						85	73	77					3																	184091269		2203	4300	6503	SO:0001819	synonymous_variant	7066	exon5			CCCCAGGAGGGAT		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.330C>T	3.37:g.184091269G>A		41	0		48	19	NM_001177598	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Silent	SNP	ENST00000204615.7	37	CCDS3265.1																																																																																			.		0.597	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		A	184091269	G	A	184091269	2	1	31	1	0	0	0	0	0	0	0	1	15919	1161	41	3		3	THPO	3	184091269	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	709	184091269	13931161	34	4868											
HTT	3064	hgsc.bcm.edu	37	4	3076696	3076696	+	Silent	SNP	T	T	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:3076696T>G	ENST00000355072.5	+	1	289	c.144T>G	c.(142-144)ccT>ccG	p.P48P	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	48	Poly-Pro.				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)		cgccgccgcctcctcagcttc	0.771																																					p.P48P		.											.	.	.	0			c.T144G						.																																			SO:0001819	synonymous_variant	3064	exon1			GCCGCCTCCTCAG	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.144T>G	4.37:g.3076696T>G		6	0		14	6	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																			.		0.771	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3076696	T	G	3076696	2	3	31	1	0	0	0	0	0	0	0	1	7484	1538	54	4		4	HTT	4	3076696	Silent	SNP	T	TCGA-ZH-A8Y4-01A-11D-A417-09		3076696	188077580	35	4869											
OTOP1	133060	hgsc.bcm.edu	37	4	4204211	4204211	+	Missense_Mutation	SNP	G	G	A	rs200612216		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:4204211G>A	ENST00000296358.4	-	4	718	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	232					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)		p.R232W(2)		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)		GTGATGAGCCGTTCCTTGTGC	0.507																																					p.R232W		.											OTOP1,NS,carcinoma,0,3	OTOP1	0	2	Substitution - Missense(2)	prostate(1)|liver(1)	c.C694T						.						144	123	130					4																	4204211		2203	4300	6503	SO:0001583	missense	133060	exon4			TGAGCCGTTCCTT	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.694C>T	4.37:g.4204211G>A	ENSP00000296358:p.Arg232Trp	39	0		50	2	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781817	0.31502	.	.	ENSG00000163982	ENST00000296358	T	0.09817	2.94	5.28	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.14661	0.345	0.80722	D	1	P	0.35328	0.495	B	0.32583	0.148	T	0.26224	-1.0109	10	0.72032	D	0.01	.	10.6877	0.45852	0.0:0.0:0.5681:0.4319	.	232	Q7RTM1	OTOP1_HUMAN	W	232	ENSP00000296358:R232W	ENSP00000296358:R232W	R	-	1	2	OTOP1	4255112	1.000000	0.71417	0.547000	0.28179	0.267000	0.26476	2.487000	0.45268	2.462000	0.83206	0.603000	0.83216	CGG	.		0.507	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		A	4204211	G	A	4204211	3	1	31	1	0	0	0	0	1	0	0	0	11344	1144	40	1	1156	1	OTOP1	4	4204211	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	1127515	4204211	186950065	36	4870											
ZBTB49	166793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	4304317	4304317	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:4304317G>T	ENST00000337872.4	+	3	875	c.754G>T	c.(754-756)Gta>Tta	p.V252L	ZBTB49_ENST00000355834.3_Missense_Mutation_p.V252L|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	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)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCTTACCACGGTAGAGAGCCA	0.522																																					p.V252L		.											.	.	.	0			c.G754T						.						113	108	110					4																	4304317		2203	4300	6503	SO:0001583	missense	166793	exon3			ACCACGGTAGAGA	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.754G>T	4.37:g.4304317G>T	ENSP00000338807:p.Val252Leu	17	0		32	5	NM_145291	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	9.325	1.059153	0.19987	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	T;T	0.14144	2.53;2.83	4.96	4.12	0.48240	.	0.686881	0.13154	N	0.409593	T	0.10508	0.0257	L	0.44542	1.39	0.20074	N	0.999933	B	0.16603	0.018	B	0.18871	0.023	T	0.39663	-0.9603	10	0.11182	T	0.66	.	5.976	0.19379	0.157:0.0:0.6897:0.1534	.	252	Q6ZSB9	ZBT49_HUMAN	L	252	ENSP00000348091:V252L;ENSP00000338807:V252L	ENSP00000338807:V252L	V	+	1	0	ZBTB49	4355218	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.506000	0.22658	1.240000	0.43803	0.591000	0.81541	GTA	.		0.522	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		T	4304317	G	T	4304317	3	4	31	1	0	0	0	0	1	0	0	0	17598	1261	44	3	760	3	ZBTB49	4	4304317	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	100106	4304317	186849959	37	4871											
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	20535338	20535338	+	Splice_Site	SNP	T	T	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:20535338T>C	ENST00000504154.1	+	18	2084	c.1832T>C	c.(1831-1833)tTg>tCg	p.L611S	SLIT2_ENST00000503837.1_Splice_Site_p.L607S|SLIT2_ENST00000273739.5_Splice_Site_p.L615S|SLIT2_ENST00000503823.1_Splice_Site_p.L603S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	611					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						CTCAAAACTTTGTAAGTATTT	0.388																																					p.L611S		.											.	.	.	0			c.T1832C						.						141	140	141					4																	20535338		2203	4300	6503	SO:0001630	splice_region_variant	9353	exon18			AAACTTTGTAAGT	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.1832+1T>C	4.37:g.20535338T>C		123	0		144	18	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488389	0.84854	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.96375	0.9277	10	0.87932	D	0	.	15.1788	0.72938	0.0:0.0:0.0:1.0	.	603;611	O94813-3;O94813	.;SLIT2_HUMAN	S	603;611;615;607;607	ENSP00000427548:L603S;ENSP00000422591:L611S;ENSP00000273739:L615S;ENSP00000422261:L607S	ENSP00000273739:L615S	L	+	2	0	SLIT2	20144436	1.000000	0.71417	0.985000	0.45067	0.964000	0.63967	7.942000	0.87708	1.998000	0.58463	0.459000	0.35465	TTG	.		0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Missense_Mutation	C	20535338	T	C	20535338	5	2	31	1	0	0	0	0	0	0	1	0	14785	1826	63	4	1902	4	SLIT2	4	20535338	Splice_Site	SNP	T	TCGA-ZH-A8Y4-01A-11D-A417-09	16231021	20535338	170618938	38	4872											
SPATA18	132671	hgsc.bcm.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					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.K404N(2)		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)			TCAATCCCAAGATTTCATTCC	0.443																																					p.K404N		.											SPATA18_ENST00000295213,NS,carcinoma,0,4	SPATA18_ENST00000295213	0	2	Substitution - Missense(2)	lung(2)	c.G1212T						.						289	270	277					4																	52945942		2203	4300	6503	SO:0001583	missense	132671	exon9			TCCCAAGATTTCA	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.1212G>T	4.37:g.52945942G>T	ENSP00000295213:p.Lys404Asn	65	1		60	3	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	SPATA18	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG	.		0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		T	52945942	G	T	52945942	3	4	31	1	0	0	0	0	1	0	0	0	15050	933	33	3	1246	3	SPATA18	4	52945942	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	32410604	52945942	138208334	39	4873											
PF4V1	5197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	74719786	74719786	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:74719786G>A	ENST00000226524.3	+	3	436	c.262G>A	c.(262-264)Gat>Aat	p.D88N		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	88					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)			AATTTGCTTGGATCTGCAAGC	0.448																																					p.D88N		.											.	.	.	0			c.G262A						.						91	94	93					4																	74719786		2203	4300	6503	SO:0001583	missense	5197	exon3			TGCTTGGATCTGC	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.262G>A	4.37:g.74719786G>A	ENSP00000226524:p.Asp88Asn	64	0		26	20	NM_002620	A1L4S0	Missense_Mutation	SNP	ENST00000226524.3	37	CCDS3561.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571625	0.28003	.	.	ENSG00000109272	ENST00000226524	T	0.04862	3.54	4.02	4.02	0.46733	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.169661	0.49916	D	0.000130	T	0.08626	0.0214	L	0.39020	1.185	0.31260	N	0.692998	P	0.48640	0.913	P	0.50352	0.638	T	0.04885	-1.0920	10	0.15499	T	0.54	.	11.945	0.52924	0.0:0.0:1.0:0.0	.	88	P10720	PF4V_HUMAN	N	88	ENSP00000226524:D88N	ENSP00000226524:D88N	D	+	1	0	PF4V1	74938650	0.999000	0.42202	0.913000	0.36048	0.011000	0.07611	1.812000	0.38952	2.515000	0.84797	0.655000	0.94253	GAT	.		0.448	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			A	74719786	G	A	74719786	3	1	31	1	0	0	0	0	1	0	0	0	11792	1174	41	3	272	3	PF4V1	4	74719786	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	21773844	74719786	116434490	40	4874											
CAMK2D	817	broad.mit.edu	37	4	114435036	114435036	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:114435036G>T	ENST00000342666.5	-	11	852	c.853C>A	c.(853-855)Cag>Aag	p.Q285K	CAMK2D_ENST00000394524.3_Missense_Mutation_p.Q285K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Q285K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Q285K|CAMK2D_ENST00000454265.2_Missense_Mutation_p.Q285K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Q285K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.Q285K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Q285K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Q285K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Q285K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.Q285K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Q285K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Q285K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Q285K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	285	Autoinhibitory domain. {ECO:0000250}.				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)		ACAGTCTCCTGTCTGTGCATC	0.333																																					p.Q285K													.	CAMK2D	55	0			c.C853A						.						45	44	45					4																	114435036		2203	4300	6503	SO:0001583	missense	817	exon11			TCTCCTGTCTGTG	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.853C>A	4.37:g.114435036G>T	ENSP00000339740:p.Gln285Lys	98	0		48	3	NM_172128	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799608	0.70567	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738;ENST00000509594	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.29;-0.28;-0.28;-0.24;-0.23;-0.29;-0.31;-0.3;-0.23;-0.3;-0.31;-0.29;-0.29;1.86;1.67	5.11	5.11	0.69529	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.89658	3.05	0.80722	D	1	B;B;B;B;B	0.27380	0.111;0.177;0.177;0.104;0.111	B;B;B;B;B	0.24848	0.052;0.056;0.056;0.038;0.017	T	0.77897	-0.2416	10	0.87932	D	0	.	18.5125	0.90921	0.0:0.0:1.0:0.0	.	285;285;285;285;285	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	K	285;285;285;285;285;285;285;285;285;285;285;285;285;285;80	ENSP00000378032:Q285K;ENSP00000415248:Q285K;ENSP00000415707:Q285K;ENSP00000406131:Q285K;ENSP00000378034:Q285K;ENSP00000296402:Q285K;ENSP00000425824:Q285K;ENSP00000339740:Q285K;ENSP00000423482:Q285K;ENSP00000423677:Q285K;ENSP00000378030:Q285K;ENSP00000424245:Q285K;ENSP00000369098:Q285K;ENSP00000422566:Q285K;ENSP00000423753:Q80K	ENSP00000296402:Q285K	Q	-	1	0	CAMK2D	114654485	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.772000	0.98984	2.352000	0.79861	0.462000	0.41574	CAG	.		0.333	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			T	114435036	G	T	114435036	3	4	31	1	0	0	0	0	1	0	0	0	2608	1386	48	3	773	3	CAMK2D	4	114435036	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	39715250	114435036	76719240	41	4875											
CAMK2D	817	hgsc.bcm.edu	37	4	114680566	114680566	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:114680566C>T	ENST00000342666.5	-	2	69	c.70G>A	c.(70-72)Gca>Aca	p.A24T	CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000511664.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000454265.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000394522.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A24T			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	24	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)		ACTGAGAATGCCCCCCTGGAA	0.323																																					p.A24T		.											.	.	.	0			c.G70A						.						84	85	85					4																	114680566		2203	4300	6503	SO:0001583	missense	817	exon2			AGAATGCCCCCCT	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.70G>A	4.37:g.114680566C>T	ENSP00000339740:p.Ala24Thr	178	0		95	2	NM_172128	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489880	0.84962	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.71	5.71	0.89125	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	U	0.000006	T	0.23846	0.0577	N	0.11756	0.17	0.80722	D	1	P;P;P;P;P	0.43826	0.818;0.782;0.782;0.657;0.706	P;B;B;B;B	0.45829	0.494;0.288;0.288;0.288;0.412	T	0.05989	-1.0852	10	0.72032	D	0.01	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	24;24;24;24;24	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	T	24	ENSP00000378032:A24T;ENSP00000415248:A24T;ENSP00000415707:A24T;ENSP00000406131:A24T;ENSP00000378034:A24T;ENSP00000296402:A24T;ENSP00000425824:A24T;ENSP00000339740:A24T;ENSP00000423482:A24T;ENSP00000423677:A24T;ENSP00000378030:A24T;ENSP00000424245:A24T;ENSP00000369098:A24T;ENSP00000422566:A24T	ENSP00000296402:A24T	A	-	1	0	CAMK2D	114900015	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.381000	0.79718	2.705000	0.92388	0.467000	0.42956	GCA	.		0.323	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			T	114680566	C	T	114680566	3	4	31	1	0	0	0	0	1	0	0	0	2608	739	26	3	1592	3	CAMK2D	4	114680566	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	245530	114680566	76473710	42	4876											
QRFPR	84109	hgsc.bcm.edu	37	4	122301568	122301568	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:122301568C>T	ENST00000394427.2	-	1	646	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	QRFPR_ENST00000334383.5_Missense_Mutation_p.V79I	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	79					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)	p.V79I(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATGTTGGTGACGGTGCGCATG	0.582																																					p.V79I		.											QRFPR,colon,carcinoma,0,1	QRFPR	0	1	Substitution - Missense(1)	large_intestine(1)	c.G235A						.						115	89	98					4																	122301568		2203	4300	6503	SO:0001583	missense	84109	exon1			TGGTGACGGTGCG	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.235G>A	4.37:g.122301568C>T	ENSP00000377948:p.Val79Ile	42	0		21	2	NM_198179		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993200	0.93167	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.38722	1.12;1.12	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.053025	0.85682	D	0.000000	T	0.44644	0.1303	L	0.47016	1.485	0.58432	D	0.999999	P;P;D	0.53462	0.882;0.934;0.96	B;P;B	0.45310	0.257;0.476;0.345	T	0.46992	-0.9151	10	0.56958	D	0.05	.	18.2778	0.90088	0.0:1.0:0.0:0.0	.	79;79;79	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	I	79	ENSP00000377948:V79I;ENSP00000335610:V79I	ENSP00000335610:V79I	V	-	1	0	QRFPR	122521018	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.525000	0.81892	2.383000	0.81215	0.467000	0.42956	GTC	.		0.582	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		T	122301568	C	T	122301568	3	4	31	1	0	0	0	0	1	0	0	0	12923	536	19	1	1084	1	QRFPR	4	122301568	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	7621002	122301568	68852708	43	4877											
KIAA1109	84162	hgsc.bcm.edu	37	4	123107280	123107280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr4:123107280G>T	ENST00000264501.4	+	7	821	c.448G>T	c.(448-450)Gag>Tag	p.E150*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.E150*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.E150*			Q2LD37	K1109_HUMAN	KIAA1109	150					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.E150*(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						ACGCCTTCAAGAGTTGTTTGG	0.383																																					p.E150X		.											KIAA1109,NS,carcinoma,0,1	KIAA1109	0	1	Substitution - Nonsense(1)	lung(1)	c.G448T						.						108	105	106					4																	123107280		1817	4083	5900	SO:0001587	stop_gained	84162	exon5			CTTCAAGAGTTGT	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.448G>T	4.37:g.123107280G>T	ENSP00000264501:p.Glu150*	146	0		67	2	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	38	6.831629	0.97869	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	.	.	.	4.94	4.94	0.65067	.	0.125066	0.29692	U	0.011450	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	18.1682	0.89736	0.0:0.0:1.0:0.0	.	.	.	.	X	150	.	ENSP00000264501:E150X	E	+	1	0	KIAA1109	123326730	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.605000	0.98321	2.281000	0.76405	0.467000	0.42956	GAG	.		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123107280	G	T	123107280	4	4	31	1	0	0	0	0	0	1	0	0	8235	943	33	3	466	3	KIAA1109	4	123107280	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	805712	123107280	68046996	44	4878											
CTNND2	1501	hgsc.bcm.edu	37	5	11199612	11199612	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr5:11199612C>T	ENST00000304623.8	-	11	2112	c.1923G>A	c.(1921-1923)ctG>ctA	p.L641L	CTNND2_ENST00000359640.2_Silent_p.L641L|CTNND2_ENST00000503622.1_Silent_p.L304L|CTNND2_ENST00000458100.2_Silent_p.L208L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.L550L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	641					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.L641L(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						GTAACCTCACCAGTGCTGGGA	0.453																																					p.L641L		.											CTNND2,NS,carcinoma,0,1	CTNND2	0	1	Substitution - coding silent(1)	lung(1)	c.G1923A						.						161	162	162					5																	11199612		2203	4300	6503	SO:0001819	synonymous_variant	1501	exon11			CCTCACCAGTGCT	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.1923G>A	5.37:g.11199612C>T		76	0		72	3	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																			.		0.453	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	11199612	C	T	11199612	2	4	31	1	0	0	0	0	0	0	0	1	4029	581	21	3		3	CTNND2	5	11199612	Silent	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09		11199612	169715648	45	4879											
MAP1B	4131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	71491937	71491937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr5:71491937G>T	ENST00000296755.7	+	5	3053	c.2755G>T	c.(2755-2757)Gga>Tga	p.G919*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	919					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)		CGAGAAGCAGGGAGTAGACGA	0.512																																					p.G919X	Melanoma(17;367 822 11631 31730 47712)	.											.	.	.	0			c.G2755T						.						66	72	70					5																	71491937		2203	4300	6503	SO:0001587	stop_gained	4131	exon5			AAGCAGGGAGTAG	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.2755G>T	5.37:g.71491937G>T	ENSP00000296755:p.Gly919*	43	0		53	16	NM_005909	A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	38	7.246903	0.98161	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.6	3.48	0.39840	.	0.269960	0.32503	N	0.006009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-14.7434	6.3527	0.21385	0.3757:0.0:0.6243:0.0	.	.	.	.	X	919	.	ENSP00000296755:G919X	G	+	1	0	MAP1B	71527693	0.997000	0.39634	0.980000	0.43619	0.157000	0.22087	2.574000	0.46016	1.362000	0.46000	0.591000	0.81541	GGA	.		0.512	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71491937	G	T	71491937	4	4	31	1	0	0	0	0	0	1	0	0	9266	1233	43	3	2773	3	MAP1B	5	71491937	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	60292325	71491937	109423323	46	4880											
KIF3A	11127	hgsc.bcm.edu	37	5	132070088	132070088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr5:132070088G>T	ENST00000378746.4	-	2	307	c.89C>A	c.(88-90)tCa>tAa	p.S30*	KIF3A_ENST00000378735.1_Nonsense_Mutation_p.S30*|KIF3A_ENST00000403231.1_Nonsense_Mutation_p.S30*	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	30	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAGCACATTGATTTCTCTCT	0.408																																					p.S30X		.											.	.	.	0			c.C89A						.						205	201	203					5																	132070088		2203	4300	6503	SO:0001587	stop_gained	11127	exon2			CACATTGATTTCT	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.89C>A	5.37:g.132070088G>T	ENSP00000368020:p.Ser30*	75	0		81	3	NM_007054	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Nonsense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369474	0.95900	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000428744	.	.	.	5.72	5.72	0.89469	.	0.322570	0.36740	N	0.002421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	19.8691	0.96843	0.0:0.0:1.0:0.0	.	.	.	.	X	30;30;30;30;29	.	ENSP00000368009:S30X	S	-	2	0	KIF3A	132097987	0.938000	0.31826	0.674000	0.29902	0.955000	0.61496	3.466000	0.53071	2.706000	0.92434	0.313000	0.20887	TCA	.		0.408	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		T	132070088	G	T	132070088	4	4	31	1	0	0	0	0	0	1	0	0	8327	1294	45	3	2074	3	KIF3A	5	132070088	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	60578151	132070088	48845172	47	4881											
CATSPER3	347732	broad.mit.edu;bcgsc.ca	37	5	134305631	134305631	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr5:134305631G>T	ENST00000282611.6	+	2	187	c.101G>T	c.(100-102)aGg>aTg	p.R34M	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	34					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)			TTTGACAGGAGGAACGATGAT	0.393																																					p.R34M													.	CATSPER3	38	0			c.G101T						.						154	144	148					5																	134305631		2203	4300	6503	SO:0001583	missense	347732	exon2			ACAGGAGGAACGA	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.101G>T	5.37:g.134305631G>T	ENSP00000282611:p.Arg34Met	66	0		68	4	NM_178019	Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180452	0.57800	.	.	ENSG00000152705	ENST00000282611	D	0.97505	-4.41	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	D	0.97164	0.9073	L	0.29908	0.895	0.38927	D	0.957856	D	0.89917	1.0	D	0.85130	0.997	D	0.98593	1.0655	10	0.87932	D	0	-32.8901	16.8675	0.86033	0.0:0.0:1.0:0.0	.	34	Q86XQ3	CTSR3_HUMAN	M	34	ENSP00000282611:R34M	ENSP00000282611:R34M	R	+	2	0	CATSPER3	134333530	1.000000	0.71417	0.999000	0.59377	0.183000	0.23260	3.415000	0.52700	2.804000	0.96469	0.650000	0.86243	AGG	.		0.393	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		T	134305631	G	T	134305631	3	4	31	1	0	0	0	0	1	0	0	0	2696	1000	35	3	107	3	CATSPER3	5	134305631	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	2235543	134305631	46609629	48	4882											
DOCK2	1794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	169145773	169145773	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr5:169145773C>T	ENST00000256935.8	+	22	2325	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W	DOCK2_ENST00000520908.1_Missense_Mutation_p.R241W|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	749					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)			GTTCATTGTTCGGTCGAGGAC	0.418																																					p.R749W		.											DOCK2,NS,malignant_melanoma,0,1	DOCK2	0	0			c.C2245T						.						129	105	113					5																	169145773		2203	4300	6503	SO:0001583	missense	1794	exon22			ATTGTTCGGTCGA	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.2245C>T	5.37:g.169145773C>T	ENSP00000256935:p.Arg749Trp	103	0		107	12	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059342	0.76074	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.26660	1.72;1.72	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.53995	-0.8359	10	0.87932	D	0	.	14.7258	0.69343	0.256:0.744:0.0:0.0	.	241;749	E7ERW7;Q92608	.;DOCK2_HUMAN	W	749;241	ENSP00000256935:R749W;ENSP00000429283:R241W	ENSP00000256935:R749W	R	+	1	2	DOCK2	169078351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.109000	0.57824	2.661000	0.90470	0.644000	0.83932	CGG	.		0.418	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169145773	C	T	169145773	3	4	31	1	0	0	0	0	1	0	0	0	4701	875	31	1	2331	1	DOCK2	5	169145773	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	34840142	169145773	11769487	49	4883											
RUFY1	80230	broad.mit.edu	37	5	178977642	178977642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr5:178977642delG	ENST00000319449.4	+	1	84	c.72delG	c.(70-72)ccgfs	p.P24fs	RUFY1_ENST00000377001.2_Frame_Shift_Del_p.P24fs	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	24					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)			agccggggccggggcCCGGGT	0.746										HNSCC(44;0.11)																											p.P24fs													.	RUFY1	101	0			c.72delG						.						3	4	4					5																	178977642		1521	3608	5129	SO:0001589	frameshift_variant	80230	exon1			GGGGCCGGGGCCC	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.72delG	5.37:g.178977642delG	ENSP00000325594:p.Pro24fs	4	0		6	1	NM_025158	Q59FF3|Q71S93|Q9H6I3	Frame_Shift_Del	DEL	ENST00000319449.4	37	CCDS4445.2																																																																																			.		0.746	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		-	178977642	G	-	178977642	7	5	31	1	0	1	0	1	0	0	0	0	13783	1103	39	0	74	0	RUFY1	5	178977642	Frame_Shift_Del	DEL	G	TCGA-ZH-A8Y4-01A-11D-A417-09	9831869	178977642	1937618	50	4884											
PGBD1	84547	broad.mit.edu	37	6	28251597	28251597	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr6:28251597G>A	ENST00000405948.2	+	2	427	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E3K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	3						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						CAACATGTATGAAGCTTTGCC	0.458																																					p.E3K													.	PGBD1	106	0			c.G7A						.						81	87	85					6																	28251597		2203	4300	6503	SO:0001583	missense	84547	exon2			ATGTATGAAGCTT	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.7G>A	6.37:g.28251597G>A	ENSP00000385213:p.Glu3Lys	31	0		31	3	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156985	0.57259	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01455	4.87;4.87	4.39	4.39	0.52855	Speract/scavenger receptor (1);	.	.	.	.	T	0.01870	0.0059	L	0.27053	0.805	0.28448	N	0.916487	D	0.76494	0.999	D	0.78314	0.991	T	0.54262	-0.8320	9	0.39692	T	0.17	8.2187	8.464	0.32944	0.102:0.0:0.898:0.0	.	3	Q96JS3	PGBD1_HUMAN	K	3	ENSP00000385213:E3K;ENSP00000259883:E3K	ENSP00000259883:E3K	E	+	1	0	PGBD1	28359576	1.000000	0.71417	0.994000	0.49952	0.725000	0.41563	2.414000	0.44627	2.704000	0.92352	0.655000	0.94253	GAA	.		0.458	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			A	28251597	G	A	28251597	3	1	31	1	0	0	0	0	1	0	0	0	11819	1291	45	3	9	3	PGBD1	6	28251597	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		28251597	142863470	51	4885											
KCNK16	83795	hgsc.bcm.edu	37	6	39285610	39285610	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr6:39285610G>T	ENST00000373229.5	-	3	460	c.447C>A	c.(445-447)gcC>gcA	p.A149A	KCNK16_ENST00000373227.4_Silent_p.A149A|KCNK16_ENST00000437525.2_Silent_p.A149A|KCNK16_ENST00000425054.2_Silent_p.A149A|KCNK16_ENST00000507712.1_Silent_p.A84A	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	149				A -> V (in Ref. 2; AAP82867). {ECO:0000305}.	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						CGGCCAGATGGGCACGCAGCC	0.592																																					p.A149A		.											.	.	.	0			c.C447A						.						43	37	39					6																	39285610		2203	4300	6503	SO:0001819	synonymous_variant	83795	exon3			CAGATGGGCACGC	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.447C>A	6.37:g.39285610G>T		83	0		75	4	NM_001135106	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	CCDS4843.1																																																																																			.		0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		T	39285610	G	T	39285610	2	4	31	1	0	0	0	0	0	0	0	1	8090	1219	43	3		3	KCNK16	6	39285610	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	11034013	39285610	131829457	52	4886											
GPR110	266977	hgsc.bcm.edu	37	6	46977650	46977650	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr6:46977650G>T	ENST00000371253.2	-	11	1736	c.1521C>A	c.(1519-1521)tcC>tcA	p.S507S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.S310S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	507					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						GAATAACCGTGGATATCACAG	0.413																																					p.S507S		.											.	.	.	0			c.C1521A						.						72	74	73					6																	46977650		2203	4300	6503	SO:0001819	synonymous_variant	266977	exon11			AACCGTGGATATC	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.1521C>A	6.37:g.46977650G>T		71	0		78	4	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	CCDS34471.1																																																																																			.		0.413	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		T	46977650	G	T	46977650	2	4	31	1	0	0	0	0	0	0	0	1	6653	1335	47	3		3	GPR110	6	46977650	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	7692040	46977650	124137417	53	4887											
MDN1	23195	hgsc.bcm.edu;bcgsc.ca	37	6	90362819	90362819	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr6:90362819G>T	ENST00000369393.3	-	94	15832	c.15717C>A	c.(15715-15717)gaC>gaA	p.D5239E	MDN1_ENST00000428876.1_Missense_Mutation_p.D5239E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5239					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)		CTGTTCTGGGGTCTTGGTCTT	0.393																																					p.D5239E		.											.	.	.	0			c.C15717A						.						273	266	268					6																	90362819		2203	4300	6503	SO:0001583	missense	23195	exon94			TCTGGGGTCTTGG	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.15717C>A	6.37:g.90362819G>T	ENSP00000358400:p.Asp5239Glu	88	0		51	4	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	4.302	0.055245	0.08291	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39997	1.05;1.05	6.17	1.7	0.24286	.	0.317683	0.32918	N	0.005491	T	0.09862	0.0242	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32798	-0.9893	10	0.08837	T	0.75	.	4.0762	0.09906	0.1487:0.2274:0.5076:0.1163	.	5239	Q9NU22	MDN1_HUMAN	E	5239	ENSP00000358400:D5239E;ENSP00000413970:D5239E	ENSP00000358400:D5239E	D	-	3	2	MDN1	90419540	0.000000	0.05858	0.083000	0.20561	0.006000	0.05464	-0.410000	0.07151	0.416000	0.25844	0.655000	0.94253	GAC	.		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90362819	G	T	90362819	3	4	31	1	0	0	0	0	1	0	0	0	9453	1252	44	3	1109	3	MDN1	6	90362819	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	43385169	90362819	80752248	54	4888											
C6orf170	221322	hgsc.bcm.edu	37	6	121481233	121481233	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr6:121481233G>T	ENST00000398212.2	-	24	2745	c.2696C>A	c.(2695-2697)cCt>cAt	p.P899H	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.P940H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	899					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.P899R(1)									CATTGGCCAAGGATATGGATT	0.308																																					p.P899H		.											C6orf170,NS,carcinoma,0,1	C6orf170	0	1	Substitution - Missense(1)	lung(1)	c.C2696A						.						111	104	106					6																	121481233		1820	4083	5903	SO:0001583	missense	221322	exon24			GGCCAAGGATATG	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.2696C>A	6.37:g.121481233G>T	ENSP00000381270:p.Pro899His	35	0		44	2	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721529	0.68959	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.29397	1.57;1.57	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54423	-0.8296	10	0.72032	D	0.01	.	18.7188	0.91686	0.0:0.0:1.0:0.0	.	940;899	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	940;899	ENSP00000275159:P940H;ENSP00000381270:P899H	ENSP00000275159:P940H	P	-	2	0	C6orf170	121522932	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.567000	0.67378	2.479000	0.83701	0.460000	0.39030	CCT	.		0.308	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		T	121481233	G	T	121481233	3	4	31	1	0	0	0	0	1	0	0	0	2351	1000	35	3	1113	3	C6orf170	6	121481233	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	31118414	121481233	49633834	55	4889											
TPD52L1	7164	bcgsc.ca	37	6	125584047	125584047	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr6:125584047C>T	ENST00000534000.1	+	7	850	c.554C>T	c.(553-555)gCc>gTc	p.A185V	HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000527711.1_Missense_Mutation_p.A172V|TPD52L1_ENST00000532429.1_Missense_Mutation_p.A156V|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000304877.13_Missense_Mutation_p.A190V|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000524679.1_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	185					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		ACGGCCCATGCCAGTGCCCAG	0.582																																					p.A185V													.	TPD52L1	14	0			c.C554T						.						52	48	50					6																	125584047		2203	4300	6503	SO:0001583	missense	7164	exon7			CCCATGCCAGTGC	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.554C>T	6.37:g.125584047C>T	ENSP00000434142:p.Ala185Val	28	0		20	3	NM_003287	A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047195	0.93740	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000527711;ENST00000532429;ENST00000392484	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.53	5.53	0.82687	.	0.103836	0.64402	D	0.000004	T	0.45276	0.1334	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.44251	-0.9340	10	0.72032	D	0.01	-3.0898	16.3926	0.83545	0.0:1.0:0.0:0.0	.	185	Q16890	TPD53_HUMAN	V	190;185;172;156;185	ENSP00000306285:A190V;ENSP00000434142:A185V;ENSP00000436953:A172V;ENSP00000435447:A156V	ENSP00000306285:A190V	A	+	2	0	TPD52L1	125625746	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.802000	0.62539	2.603000	0.88011	0.650000	0.86243	GCC	.		0.582	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			T	125584047	C	T	125584047	3	4	31	1	0	0	0	0	1	0	0	0	16446	739	26	3	580	3	TPD52L1	6	125584047	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	4102814	125584047	45531020	56	4890											
SYNE1	23345	hgsc.bcm.edu	37	6	152737535	152737535	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr6:152737535C>A	ENST00000367255.5	-	41	6638	c.6037G>T	c.(6037-6039)Gct>Tct	p.A2013S	SYNE1_ENST00000341594.5_Missense_Mutation_p.A2050S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2020S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2013S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2020S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2013					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)		TGCTGAAGAGCTTGGCGGGTA	0.393										HNSCC(10;0.0054)																											p.A2020S		.											SYNE1_ENST00000265368,NS,carcinoma,0,2	SYNE1_ENST00000265368	0	0			c.G6058T						.						193	199	197					6																	152737535		2203	4300	6503	SO:0001583	missense	23345	exon41			GAAGAGCTTGGCG	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.6037G>T	6.37:g.152737535C>A	ENSP00000356224:p.Ala2013Ser	39	0		36	2	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	13.91	2.377948	0.42105	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000010	T	0.34716	0.0907	M	0.74881	2.28	0.80722	D	1	P;P;D;D	0.55385	0.953;0.952;0.962;0.971	B;B;P;P	0.50617	0.388;0.444;0.526;0.646	T	0.09400	-1.0676	10	0.13108	T	0.6	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1996;2013;2013;2020	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	2013;2020;2013;2020;2050	ENSP00000356224:A2013S;ENSP00000396024:A2020S;ENSP00000265368:A2013S;ENSP00000390975:A2020S;ENSP00000341887:A2050S	ENSP00000265368:A2013S	A	-	1	0	SYNE1	152779228	0.999000	0.42202	0.305000	0.25099	0.323000	0.28346	4.034000	0.57289	2.836000	0.97738	0.655000	0.94253	GCT	.		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152737535	C	A	152737535	3	1	31	1	0	0	0	0	1	0	0	0	15492	797	28	3	20853	3	SYNE1	6	152737535	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	27153488	152737535	18377532	57	4891											
GRM3	2913	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	86416121	86416121	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:86416121A>G	ENST00000361669.2	+	3	2112	c.1013A>G	c.(1012-1014)cAg>cGg	p.Q338R	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.Q210R|GRM3_ENST00000439827.1_Missense_Mutation_p.Q338R|GRM3_ENST00000394720.2_Missense_Mutation_p.Q336R|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	338					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)					CGCTACTTCCAGAGCCTCAAC	0.617																																					p.Q338R	GBM(52;969 1098 3139 52280)												.	GRM3	237	0			c.A1013G						.						41	41	41					7																	86416121		2203	4300	6503	SO:0001583	missense	0	exon3			ACTTCCAGAGCCT		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.1013A>G	7.37:g.86416121A>G	ENSP00000355316:p.Gln338Arg	26	0		43	4	NM_000840	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	A	8.549	0.875098	0.17395	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.93	4.78	0.61160	Extracellular ligand-binding receptor (1);	0.118514	0.64402	N	0.000019	T	0.67850	0.2937	N	0.19112	0.55	0.50813	D	0.999899	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.58808	-0.7571	10	0.07482	T	0.82	.	11.0614	0.47950	0.9281:0.0:0.0719:0.0	.	210;338;338	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	R	338;210;338;336	ENSP00000355316:Q338R;ENSP00000441407:Q210R;ENSP00000398767:Q338R;ENSP00000378209:Q336R	ENSP00000355316:Q338R	Q	+	2	0	GRM3	86254057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.455000	0.52993	1.075000	0.40932	0.533000	0.62120	CAG	.		0.617	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			G	86416121	A	G	86416121	3	3	31	1	0	0	0	0	1	0	0	0	6825	188	7	4	1019	4	GRM3	7	86416121	Missense_Mutation	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09		86416121	72722542	58	4892											
CCDC132	55610	hgsc.bcm.edu	37	7	92970748	92970748	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:92970748G>T	ENST00000305866.5	+	23	2196	c.2068G>T	c.(2068-2070)Gct>Tct	p.A690S	CCDC132_ENST00000535481.1_Missense_Mutation_p.A410S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.A660S|CCDC132_ENST00000541136.1_Missense_Mutation_p.A501S	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	690						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)			GGAAGTTTCAGCTGATCCTAC	0.378																																					p.A690S		.											.	.	.	0			c.G2068T						.						94	95	95					7																	92970748		1956	4144	6100	SO:0001583	missense	55610	exon23			GTTTCAGCTGATC	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.2068G>T	7.37:g.92970748G>T	ENSP00000307666:p.Ala690Ser	82	0		98	4	NM_017667	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	2.068	-0.413856	0.04799	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.55	2.67	0.31697	.	0.165508	0.53938	D	0.000055	T	0.14098	0.0341	N	0.02011	-0.69	0.31730	N	0.637157	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.20338	-1.0278	9	0.10902	T	0.67	-23.076	7.5405	0.27735	0.1333:0.0:0.6294:0.2373	.	410;660;690	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	S	690;660;501;410	.	ENSP00000307666:A690S	A	+	1	0	CCDC132	92808684	0.631000	0.27164	0.932000	0.37286	0.219000	0.24729	0.867000	0.27968	0.792000	0.33850	0.655000	0.94253	GCT	.		0.378	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		T	92970748	G	T	92970748	3	4	31	1	0	0	0	0	1	0	0	0	2774	971	34	3	2200	3	CCDC132	7	92970748	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	6554627	92970748	66167915	59	4893											
SMURF1	57154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	98636132	98636132	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:98636132G>T	ENST00000361125.1	-	15	1964	c.1645C>A	c.(1645-1647)Cct>Act	p.P549T	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.P523T	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	549	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			TCCAGTACAGGCGTGATGTCG	0.517																																					p.P549T		.											.	.	.	0			c.C1645A						.						129	102	112					7																	98636132		2203	4300	6503	SO:0001583	missense	57154	exon15			GTACAGGCGTGAT	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.1645C>A	7.37:g.98636132G>T	ENSP00000354621:p.Pro549Thr	37	0		42	4	NM_020429	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920925	0.33908	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.56444	0.46;0.46	5.5	4.62	0.57501	HECT (4);	0.057146	0.64402	D	0.000001	T	0.39886	0.1095	N	0.20530	0.585	0.37954	D	0.932743	B;B;B	0.21225	0.053;0.04;0.04	B;B;B	0.29440	0.038;0.102;0.063	T	0.43393	-0.9394	10	0.66056	D	0.02	.	10.7787	0.46365	0.1452:0.0:0.8548:0.0	.	523;549;523	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	T	523;549	ENSP00000355326:P523T;ENSP00000354621:P549T	ENSP00000354621:P549T	P	-	1	0	SMURF1	98474068	1.000000	0.71417	0.792000	0.32020	0.484000	0.33280	4.054000	0.57434	1.471000	0.48121	0.563000	0.77884	CCT	.		0.517	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		T	98636132	G	T	98636132	3	4	31	1	0	0	0	0	1	0	0	0	14864	1203	42	3	648	3	SMURF1	7	98636132	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	5665384	98636132	60502531	60	4894											
FOXP2	93986	broad.mit.edu	37	7	114269938	114269949	+	In_Frame_Del	DEL	CAGCAGCAACAA	CAGCAGCAACAA	-	rs62640396	byFrequency	TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:114269938_114269949delCAGCAGCAACAA	ENST00000393494.2	+	5	754_765	c.475_486delCAGCAGCAACAA	c.(475-486)cagcagcaacaadel	p.QQQQ187del	FOXP2_ENST00000393489.3_In_Frame_Del_p.QQQQ95del|FOXP2_ENST00000393500.3_In_Frame_Del_p.QQQQ112del|FOXP2_ENST00000360232.4_In_Frame_Del_p.QQQQ187del|FOXP2_ENST00000408937.3_In_Frame_Del_p.QQQQ212del|FOXP2_ENST00000393491.3_In_Frame_Del_p.QQQQ95del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.QQQQ187del|FOXP2_ENST00000378237.3_In_Frame_Del_p.QQQQ187del|FOXP2_ENST00000390668.3_In_Frame_Del_p.QQQQ211del|FOXP2_ENST00000403559.4_In_Frame_Del_p.QQQQ204del|FOXP2_ENST00000393498.2_In_Frame_Del_p.QQQQ167del			O15409	FOXP2_HUMAN	forkhead box P2	187	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcaacagcagcagcagcaacaacagcagcaac	0.472																																					p.184_187del													FOXP2,NS,carcinoma,0,1	FOXP2	133	0			c.550_561del						.																																			SO:0001651	inframe_deletion	93986	exon5			CAGCAGCAGCAGC	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.475_486delCAGCAGCAACAA	7.37:g.114269938_114269949delCAGCAGCAACAA	ENSP00000377132:p.Gln187_Gln190del	53	0		51	4	NM_001172767	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	CCDS5760.1																																																																																			.		0.472	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		-	114269949	CAGCAGCAACAA	-	114269938	7	5	31	1	0	1	0	1	0	0	0	0	6051	711	25	0	623	0	FOXP2	7	114269938	In_Frame_Del	DEL	CAGCAGCAACAA	TCGA-ZH-A8Y4-01A-11D-A417-09	15633806	114269938	44868725	61	4895											
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	132193245	132193245	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:132193245G>A	ENST00000359827.3	-	2	1170	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	PLXNA4_ENST00000423507.2_Missense_Mutation_p.R70W|PLXNA4_ENST00000378539.5_Missense_Mutation_p.R70W|PLXNA4_ENST00000321063.4_Missense_Mutation_p.R70W			Q9HCM2	PLXA4_HUMAN	plexin A4	70	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						TTGTAAATCCGATTGACGGCC	0.577																																					p.R70W		.											.	.	.	0			c.C208T						.						57	61	59					7																	132193245		2203	4300	6503	SO:0001583	missense	91584	exon2			AAATCCGATTGAC	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.208C>T	7.37:g.132193245G>A	ENSP00000352882:p.Arg70Trp	89	0		98	41	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.263105	0.39995	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.39	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000010	T	0.23451	0.0567	M	0.74389	2.26	0.58432	D	0.999999	P;P;P	0.45594	0.862;0.771;0.683	B;P;B	0.49252	0.371;0.604;0.17	T	0.00888	-1.1526	10	0.62326	D	0.03	.	8.3567	0.32335	0.075:0.0:0.3683:0.5567	.	70;70;70	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	W	70	ENSP00000323194:R70W;ENSP00000352882:R70W;ENSP00000392772:R70W;ENSP00000367800:R70W	ENSP00000323194:R70W	R	-	1	2	PLXNA4	131843785	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.044000	0.41241	0.602000	0.29896	0.462000	0.41574	CGG	.		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	132193245	G	A	132193245	3	1	31	1	0	0	0	0	1	0	0	0	12161	1057	37	1	5914	1	PLXNA4	7	132193245	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	17923307	132193245	26945418	62	4896											
ZYX	7791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	143080207	143080207	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:143080207A>C	ENST00000322764.5	+	5	1160	c.815A>C	c.(814-816)aAg>aCg	p.K272T	ZYX_ENST00000449423.2_Missense_Mutation_p.K185T|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Missense_Mutation_p.K115T|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	272					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GTGACTCCTAAGTTTACTCCT	0.577																																					p.K272T		.											.	.	.	0			c.A815C						.						110	135	127					7																	143080207		2203	4300	6503	SO:0001583	missense	7791	exon5			CTCCTAAGTTTAC	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.815A>C	7.37:g.143080207A>C	ENSP00000324422:p.Lys272Thr	76	0		76	26	NM_003461	A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879824	0.33162	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T	0.55234	0.62;0.54;0.53;0.54	4.25	1.81	0.25067	.	0.519308	0.16938	U	0.193383	T	0.58177	0.2104	M	0.63428	1.95	0.32754	N	0.506022	D;D	0.69078	0.991;0.997	P;P	0.57204	0.749;0.815	T	0.63906	-0.6531	10	0.44086	T	0.13	.	6.7723	0.23601	0.8032:0.0:0.1968:0.0	.	185;272	B4DQR8;Q15942	.;ZYX_HUMAN	T	272;240;185;115	ENSP00000324422:K272T;ENSP00000346417:K240T;ENSP00000394158:K185T;ENSP00000376642:K115T	ENSP00000324422:K272T	K	+	2	0	ZYX	142790329	0.840000	0.29493	0.986000	0.45419	0.207000	0.24258	0.691000	0.25467	0.514000	0.28300	0.533000	0.62120	AAG	.		0.577	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		C	143080207	A	C	143080207	3	2	31	1	0	0	0	0	1	0	0	0	18302	72	3	4	829	4	ZYX	7	143080207	Missense_Mutation	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09	10886962	143080207	16058456	63	4897											
OR6B1	135946	hgsc.bcm.edu;bcgsc.ca	37	7	143701151	143701151	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:143701151T>C	ENST00000408922.2	+	1	130	c.62T>C	c.(61-63)tTg>tCg	p.L21S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	21						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)					CCTGGGAGCTTGAGTATGCGG	0.493																																					p.L21S		.											.	.	.	0			c.T62C						.						110	102	104					7																	143701151		1959	4169	6128	SO:0001583	missense	135946	exon1			GGAGCTTGAGTAT		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.62T>C	7.37:g.143701151T>C	ENSP00000386151:p.Leu21Ser	63	0		54	4	NM_001005281	A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	T	0.770	-0.766213	0.02974	.	.	ENSG00000221813	ENST00000408922	T	0.00441	7.41	5.37	0.656	0.17844	.	1.364740	0.06269	U	0.695290	T	0.00210	0.0006	N	0.12961	0.28	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34004	-0.9846	10	0.23891	T	0.37	.	1.646	0.02762	0.1116:0.2557:0.211:0.4216	.	21	O95007	OR6B1_HUMAN	S	21	ENSP00000386151:L21S	ENSP00000386151:L21S	L	+	2	0	OR6B1	143332084	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-0.601000	0.05687	0.561000	0.29186	0.455000	0.32223	TTG	.		0.493	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			C	143701151	T	C	143701151	3	2	31	1	0	0	0	0	1	0	0	0	11226	1821	63	4	64	4	OR6B1	7	143701151	Missense_Mutation	SNP	T	TCGA-ZH-A8Y4-01A-11D-A417-09	620944	143701151	15437512	64	4898											
ZNF786	136051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	148769283	148769283	+	Missense_Mutation	SNP	T	T	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:148769283T>G	ENST00000491431.1	-	4	645	c.581A>C	c.(580-582)gAa>gCa	p.E194A	ZNF786_ENST00000451334.3_Missense_Mutation_p.E157A|ZNF786_ENST00000316286.9_Missense_Mutation_p.E108A	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCAACAGCTTTCCCCGCAGAC	0.562																																					p.E194A		.											.	.	.	0			c.A581C						.						25	28	27					7																	148769283		1976	4148	6124	SO:0001583	missense	136051	exon4			CAGCTTTCCCCGC	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.581A>C	7.37:g.148769283T>G	ENSP00000417470:p.Glu194Ala	61	0		70	29	NM_152411	A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.675586	0.29783	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.10288	2.89;3.07;2.96	4.41	3.22	0.36961	Zinc finger, C2H2-like (1);	0.402150	0.18418	N	0.141853	T	0.05914	0.0154	N	0.08118	0	0.09310	N	0.999998	B	0.25312	0.123	B	0.25614	0.062	T	0.32534	-0.9903	10	0.72032	D	0.01	-4.7483	8.5375	0.33373	0.0:0.0:0.388:0.612	.	194	Q8N393	ZN786_HUMAN	A	108;108;194;157	ENSP00000313516:E108A;ENSP00000417470:E194A;ENSP00000404984:E157A	ENSP00000313516:E108A	E	-	2	0	ZNF786	148400216	0.000000	0.05858	0.013000	0.15412	0.081000	0.17604	0.457000	0.21875	0.720000	0.32209	0.454000	0.30748	GAA	.		0.562	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		G	148769283	T	G	148769283	3	3	31	1	0	0	0	0	1	0	0	0	18206	1783	62	4	1771	4	ZNF786	7	148769283	Missense_Mutation	SNP	T	TCGA-ZH-A8Y4-01A-11D-A417-09	5068132	148769283	10369380	65	4899											
ZNF467	168544	broad.mit.edu	37	7	149462038	149462038	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:149462038G>T	ENST00000302017.3	-	5	1966	c.1553C>A	c.(1552-1554)gCc>gAc	p.A518D	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	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)			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)			GGCGCAGACGGCGCAGGCGTG	0.706																																					p.A518D													.	ZNF467	50	0			c.C1553A						.						24	30	28					7																	149462038		2194	4291	6485	SO:0001583	missense	168544	exon5			CAGACGGCGCAGG	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.1553C>A	7.37:g.149462038G>T	ENSP00000304769:p.Ala518Asp	40	0		43	3	NM_207336		Missense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288919	0.40494	.	.	ENSG00000181444	ENST00000302017	T	0.13901	2.55	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.568464	0.13166	U	0.408676	T	0.06962	0.0177	N	0.01761	-0.735	0.34958	D	0.751888	P	0.37176	0.586	B	0.40165	0.321	T	0.43734	-0.9373	10	0.17369	T	0.5	-11.6448	15.504	0.75722	0.0:0.0:1.0:0.0	.	518	Q7Z7K2	ZN467_HUMAN	D	518	ENSP00000304769:A518D	ENSP00000304769:A518D	A	-	2	0	ZNF467	149092971	0.004000	0.15560	1.000000	0.80357	0.995000	0.86356	0.726000	0.25984	1.989000	0.58080	0.462000	0.41574	GCC	.		0.706	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		T	149462038	G	T	149462038	3	4	31	1	0	0	0	0	1	0	0	0	17975	1203	42	3	238	3	ZNF467	7	149462038	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	692755	149462038	9676625	66	4900											
GIMAP2	26157	hgsc.bcm.edu;broad.mit.edu	37	7	150389906	150389906	+	Nonsense_Mutation	SNP	C	C	T	rs550994929		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:150389906C>T	ENST00000223293.5	+	3	626	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	178	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.R178*(1)		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)		ATGTGGTGGGCGAATCTGTGC	0.478																																					p.R178X		.											GIMAP2,colon,carcinoma,0,2	GIMAP2	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.C532T						.						117	97	104					7																	150389906		2203	4300	6503	SO:0001587	stop_gained	26157	exon3			GGTGGGCGAATCT	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.532C>T	7.37:g.150389906C>T	ENSP00000223293:p.Arg178*	70	0		47	3	NM_015660	Q96L25	Nonsense_Mutation	SNP	ENST00000223293.5	37	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155047	0.94686	.	.	ENSG00000106560	ENST00000223293	.	.	.	3.89	1.97	0.26223	.	0.150137	0.40818	N	0.001017	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5978	0.22683	0.2064:0.5938:0.1998:0.0	.	.	.	.	X	178	.	ENSP00000223293:R178X	R	+	1	2	GIMAP2	150020839	0.000000	0.05858	0.002000	0.10522	0.697000	0.40408	-0.345000	0.07770	0.387000	0.25024	0.603000	0.83216	CGA	.		0.478	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		T	150389906	C	T	150389906	4	4	31	1	0	0	0	0	0	1	0	0	6406	760	27	1	538	1	GIMAP2	7	150389906	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	927868	150389906	8748757	67	4901											
PAXIP1	22976	hgsc.bcm.edu;bcgsc.ca	37	7	154760124	154760124	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr7:154760124G>A	ENST00000404141.1	-	7	1941	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	PAXIP1_ENST00000397192.1_Missense_Mutation_p.P596L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	596	Gln-rich.|Interaction with TP53BP1.				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)		CTCCACTGCTGGATCATGTCC	0.512																																					p.P596L		.											.	.	.	0			c.C1787T						.						46	50	48					7																	154760124		1893	3573	5466	SO:0001583	missense	22976	exon7			ACTGCTGGATCAT	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.1787C>T	7.37:g.154760124G>A	ENSP00000384048:p.Pro596Leu	30	0		42	4	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340078	0.60963	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.37584	1.19;1.19	4.85	4.85	0.62838	.	0.272597	0.25214	U	0.032292	T	0.50257	0.1605	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.996	T	0.54036	-0.8353	10	0.87932	D	0	-7.2556	16.1802	0.81892	0.0:0.0:1.0:0.0	.	549;505;562;596	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	L	596;596;420;549	ENSP00000384048:P596L;ENSP00000380376:P596L	ENSP00000319149:P549L	P	-	2	0	PAXIP1	154391057	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.460000	0.80816	2.245000	0.73994	0.650000	0.86243	CCA	.		0.512	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		A	154760124	G	A	154760124	3	1	31	1	0	0	0	0	1	0	0	0	11526	1348	47	3	1482	3	PAXIP1	7	154760124	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	4370218	154760124	4378539	68	4902											
C8orf79	57604	hgsc.bcm.edu	37	8	12870249	12870249	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr8:12870249G>T	ENST00000524591.2	+	4	700	c.211G>T	c.(211-213)Gac>Tac	p.D71Y	KIAA1456_ENST00000447063.2_Missense_Mutation_p.D71Y	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	71							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						CGTGGGCTGTGACTACTGTGG	0.468																																					p.D71Y		.											.	.	.	0			c.G211T						.						140	139	140					8																	12870249		1959	4154	6113	SO:0001583	missense	57604	exon4			GGCTGTGACTACT	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.211G>T	8.37:g.12870249G>T	ENSP00000432695:p.Asp71Tyr	96	0		86	4	NM_020844	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882577	0.91740	.	.	ENSG00000250305	ENST00000447063;ENST00000524591;ENST00000532376	T;T	0.74002	-0.8;-0.8	5.73	5.73	0.89815	Methyltransferase type 11 (1);	.	.	.	.	D	0.91643	0.7359	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93532	0.6870	9	0.87932	D	0	.	20.2886	0.98538	0.0:0.0:1.0:0.0	.	71;71	E9PK20;Q9P272	.;K1456_HUMAN	Y	71	ENSP00000443288:D71Y;ENSP00000432695:D71Y	ENSP00000443288:D71Y	D	+	1	0	AC135352.2	12914620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	GAC	.		0.468	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		T	12870249	G	T	12870249	3	4	31	1	0	0	0	0	1	0	0	0	2445	1290	45	3	217	3	C8orf79	8	12870249	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		12870249	133493773	69	4903											
CDH17	1015	hgsc.bcm.edu;broad.mit.edu	37	8	95186446	95186446	+	Missense_Mutation	SNP	G	G	A	rs376397791		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr8:95186446G>A	ENST00000027335.3	-	6	591	c.467C>T	c.(466-468)cCg>cTg	p.P156L	CDH17_ENST00000450165.2_Missense_Mutation_p.P156L|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.P156Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGGAGTGGCCGGATCATCCAG	0.413																																					p.P156L		.											CDH17,NS,carcinoma,0,2	CDH17	0	1	Substitution - Missense(1)	lung(1)	c.C467T						.	G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	159	162	161		467,467	6	1	8		161	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDH17	NM_001144663.1,NM_004063.3	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	156/833,156/833	95186446	1,13005	2203	4300	6503	SO:0001583	missense	1015	exon6			GTGGCCGGATCAT	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.467C>T	8.37:g.95186446G>A	ENSP00000027335:p.Pro156Leu	65	1		75	5	NM_004063	Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707740	0.89018	0.0	1.16E-4	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.20069	2.1;2.1	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000031	T	0.58047	0.2095	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.66885	-0.5810	10	0.87932	D	0	-14.1027	19.1934	0.93677	0.0:0.0:1.0:0.0	.	156	Q12864	CAD17_HUMAN	L	156	ENSP00000027335:P156L;ENSP00000401468:P156L	ENSP00000027335:P156L	P	-	2	0	CDH17	95255622	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.631000	0.74277	2.832000	0.97577	0.655000	0.94253	CCG	.		0.413	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		A	95186446	G	A	95186446	3	1	31	1	0	0	0	0	1	0	0	0	3109	1116	39	1	2083	1	CDH17	8	95186446	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	82316197	95186446	51177576	70	4904											
CNTFR	1271	hgsc.bcm.edu	37	9	34557626	34557626	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr9:34557626A>G	ENST00000378980.3	-	6	795	c.502T>C	c.(502-504)Tac>Cac	p.Y168H	CNTFR_ENST00000351266.4_Missense_Mutation_p.Y168H	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	168	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGGTGCATGTAGCGAATGTGG	0.527																																					p.Y168H		.											CNTFR,colon,carcinoma,0,2	CNTFR	0	0			c.T502C						.						181	146	158					9																	34557626		2203	4300	6503	SO:0001583	missense	1271	exon6			GCATGTAGCGAAT	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.502T>C	9.37:g.34557626A>G	ENSP00000368265:p.Tyr168His	76	0		29	3	NM_147164	Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528376	0.44969	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.36157	1.27;1.27;1.27	5.52	4.39	0.52855	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.248101	0.34750	N	0.003702	T	0.32102	0.0818	L	0.51422	1.61	0.30691	N	0.751336	D	0.56968	0.978	P	0.45881	0.496	T	0.38156	-0.9674	9	0.15952	T	0.53	.	8.941	0.35729	0.9126:0.0:0.0874:0.0	.	168	P26992	CNTFR_HUMAN	H	168	ENSP00000368265:Y168H;ENSP00000242338:Y168H;ENSP00000388082:Y168H	ENSP00000242338:Y168H	Y	-	1	0	CNTFR	34547626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.631000	0.74277	2.083000	0.62718	0.533000	0.62120	TAC	.		0.527	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			G	34557626	A	G	34557626	3	3	31	1	0	0	0	0	1	0	0	0	3645	420	15	4	636	4	CNTFR	9	34557626	Missense_Mutation	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09		34557626	106655805	71	4905											
REXO4	57109	hgsc.bcm.edu	37	9	136279959	136279959	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr9:136279959G>T	ENST00000371942.3	-	2	597	c.398C>A	c.(397-399)cCt>cAt	p.P133H	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_Intron|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	133					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)		GGAACCTGAAGGAACAGAGCC	0.522																																					p.P133H		.											REXO4,mucosal,malignant_melanoma,0,2	REXO4	0	0			c.C398A						.						114	98	104					9																	136279959		2203	4300	6503	SO:0001583	missense	57109	exon2			CCTGAAGGAACAG	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.398C>A	9.37:g.136279959G>T	ENSP00000361010:p.Pro133His	69	0		44	3	NM_020385	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264203	0.39995	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000445916	T;T;T	0.27402	2.1;2.13;1.67	4.92	4.92	0.64577	.	9.432040	0.00166	N	0.000000	T	0.52158	0.1717	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.18272	-1.0342	10	0.39692	T	0.17	.	15.2907	0.73865	0.0:0.0:1.0:0.0	.	133	Q9GZR2	REXO4_HUMAN	H	118;133;40	ENSP00000403272:P118H;ENSP00000361010:P133H;ENSP00000391534:P40H	ENSP00000361010:P133H	P	-	2	0	REXO4	135269780	0.101000	0.21875	0.004000	0.12327	0.025000	0.11179	2.704000	0.47118	2.266000	0.75297	0.561000	0.74099	CCT	.		0.522	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			T	136279959	G	T	136279959	3	4	31	1	0	0	0	0	1	0	0	0	13288	1000	35	3	898	3	REXO4	9	136279959	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	101722333	136279959	4933472	72	4906											
NELF	26012	hgsc.bcm.edu	37	9	140348862	140348862	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr9:140348862G>T	ENST00000371475.3	-	7	1044	c.813C>A	c.(811-813)agC>agA	p.S271R	NSMF_ENST00000371473.3_Missense_Mutation_p.S271R|NSMF_ENST00000392812.4_Missense_Mutation_p.S248R|NSMF_ENST00000339554.3_Missense_Mutation_p.S68R|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371474.3_Missense_Mutation_p.S246R|NSMF_ENST00000265663.7_Missense_Mutation_p.S269R|NSMF_ENST00000371472.2_Missense_Mutation_p.S269R|NSMF_ENST00000437259.1_Missense_Mutation_p.S248R|NSMF_ENST00000541195.1_Missense_Mutation_p.S68R|NSMF_ENST00000371482.1_5'UTR|NSMF_ENST00000371468.1_Missense_Mutation_p.S4R	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	271					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										TCACCCTCCGGCTGCCGACCA	0.682																																					p.S271R		.											.	.	.	0			c.C813A						.						23	29	27					9																	140348862		1895	3619	5514	SO:0001583	missense	26012	exon7			CCTCCGGCTGCCG		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"nasal embryonic LHRH factor"	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.813C>A	9.37:g.140348862G>T	ENSP00000360530:p.Ser271Arg	100	0		71	4	NM_001178064	Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110606	0.56398	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472;ENST00000541195;ENST00000371468	T;T;T;T;T;T;T;T;T	0.71341	-0.56;0.6;0.79;0.69;0.69;0.82;0.44;0.79;0.63	4.23	3.24	0.37175	.	0.099522	0.64402	D	0.000002	T	0.69468	0.3114	L	0.56769	1.78	0.53688	D	0.999974	P;P;P;P;P;P;P	0.42620	0.709;0.785;0.677;0.528;0.528;0.528;0.528	B;P;P;B;B;B;B	0.47645	0.409;0.553;0.452;0.329;0.329;0.309;0.309	T	0.68191	-0.5474	10	0.72032	D	0.01	-19.9225	6.8943	0.24247	0.1754:0.0:0.8246:0.0	.	248;68;52;246;271;271;269	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	R	68;271;269;248;248;246;271;269;68;4	ENSP00000342966:S68R;ENSP00000360530:S271R;ENSP00000265663:S269R;ENSP00000412007:S248R;ENSP00000376559:S248R;ENSP00000360529:S246R;ENSP00000360528:S271R;ENSP00000360527:S269R;ENSP00000444177:S68R	ENSP00000265663:S269R	S	-	3	2	NELF	139468683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.043000	0.57354	0.581000	0.29539	0.455000	0.32223	AGC	.		0.682	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		T	140348862	G	T	140348862	3	4	31	1	0	0	0	0	1	0	0	0	10371	1194	42	3	819	3	NELF	9	140348862	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	4068903	140348862	864569	73	4907											
SFMBT2	57713	bcgsc.ca	37	10	7212892	7212892	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr10:7212892G>T	ENST00000361972.4	-	20	2632	c.2542C>A	c.(2542-2544)Cag>Aag	p.Q848K	SFMBT2_ENST00000397167.1_Missense_Mutation_p.Q848K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	848	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACCGTACCTGCTCCTGAAAT	0.557																																					p.Q848K													.	SFMBT2	209	0			c.C2542A						.						221	173	189					10																	7212892		2203	4300	6503	SO:0001583	missense	57713	exon20			GTACCTGCTCCTG	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2542C>A	10.37:g.7212892G>T	ENSP00000355109:p.Gln848Lys	63	0		42	4	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024782	0.93518	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.49720	0.77;0.77	5.1	5.1	0.69264	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	1.296800	0.05029	N	0.474227	T	0.75443	0.3850	M	0.80508	2.5	0.80722	D	1	D	0.60160	0.987	D	0.69654	0.965	T	0.64803	-0.6321	10	0.62326	D	0.03	.	18.8831	0.92364	0.0:0.0:1.0:0.0	.	848	Q5VUG0	SMBT2_HUMAN	K	848	ENSP00000355109:Q848K;ENSP00000380353:Q848K	ENSP00000355109:Q848K	Q	-	1	0	SFMBT2	7252898	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	9.641000	0.98458	2.537000	0.85549	0.561000	0.74099	CAG	.		0.557	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		T	7212892	G	T	7212892	3	4	31	1	0	0	0	0	1	0	0	0	14203	1328	46	3	150	3	SFMBT2	10	7212892	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		7212892	128321855	74	4908											
ZNF485	220992	hgsc.bcm.edu	37	10	44104181	44104181	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr10:44104181G>T	ENST00000361807.3	+	3	338	c.144G>T	c.(142-144)gtG>gtT	p.V48V	ZNF485_ENST00000374435.3_Silent_p.V48V|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	48	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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGAATCTGGTGTCTGTGGGTG	0.507																																					p.V48V		.											.	.	.	0			c.G144T						.						249	207	221					10																	44104181		2203	4300	6503	SO:0001819	synonymous_variant	220992	exon3			TCTGGTGTCTGTG	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.144G>T	10.37:g.44104181G>T		81	0		84	4	NM_145312	B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	CCDS7205.2																																																																																			.		0.507	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		T	44104181	G	T	44104181	2	4	31	1	0	0	0	0	0	0	0	1	17986	1364	48	3		3	ZNF485	10	44104181	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	36891289	44104181	91430566	75	4909											
PCDH15	65217	hgsc.bcm.edu	37	10	55566478	55566478	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr10:55566478G>T	ENST00000373965.2	-	36	5310	c.4916C>A	c.(4915-4917)aCa>aAa	p.T1639K	PCDH15_ENST00000414778.1_Missense_Mutation_p.T1636K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				CTGTTCAACTGTGCTTTTCAG	0.463										HNSCC(58;0.16)																											.		.											PCDH15_ENST00000414778,NS,carcinoma,0,1	PCDH15_ENST00000414778	0	0			.						.						356	301	318					10																	55566478		1568	3582	5150	SO:0001583	missense	65217	p.T1639K			TCAACTGTGCTTT	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	ENST00000373965.2:c.4916C>A	10.37:g.55566478G>T	ENSP00000363076:p.Thr1639Lys	51	0		30	2	.	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37		.	.	.	.	.	.	.	.	.	.	G	15.46	2.839715	0.51057	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.58358	0.34;0.39	6.02	4.12	0.48240	.	.	.	.	.	T	0.48804	0.1520	L	0.54323	1.7	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.06405	0.002;0.002	T	0.46707	-0.9172	9	0.87932	D	0	.	12.981	0.58564	0.0:0.1243:0.7463:0.1294	.	1630;1636	C6ZEF7;C9J4F3	.;.	K	1639;1636;1632	ENSP00000363076:T1639K;ENSP00000410304:T1636K	ENSP00000363076:T1639K	T	-	2	0	PCDH15	55236484	1.000000	0.71417	0.948000	0.38648	0.995000	0.86356	7.429000	0.80309	0.821000	0.34540	0.655000	0.94253	ACA	.		0.463	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		T	55566478	G	T	55566478	3	4	31	1	0	0	0	0	1	0	0	0	11550	1377	48	3	142	3	PCDH15	10	55566478	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	11462297	55566478	79968269	76	4910											
CTNNA3	29119	hgsc.bcm.edu	37	10	68381522	68381522	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr10:68381522G>T	ENST00000433211.2	-	10	1476	c.1302C>A	c.(1300-1302)tcC>tcA	p.S434S	CTNNA3_ENST00000373744.4_Silent_p.S434S	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						TTGTTGACATGGAACAAGCAA	0.333																																					p.S434S		.											CTNNA3_ENST00000433211,NS,carcinoma,0,2	CTNNA3_ENST00000433211	0	0			c.C1302A						.						84	79	81					10																	68381522		2203	4299	6502	SO:0001819	synonymous_variant	29119	exon10			TGACATGGAACAA	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.1302C>A	10.37:g.68381522G>T		60	0		70	2	NM_013266		Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																			.		0.333	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	68381522	G	T	68381522	2	4	31	1	0	0	0	0	0	0	0	1	4023	1335	47	3		3	CTNNA3	10	68381522	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	12815044	68381522	67153225	77	4911											
VPS26A	9559	hgsc.bcm.edu;bcgsc.ca	37	10	70928304	70928304	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr10:70928304G>T	ENST00000373382.1	+	9	1440	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	VPS26A_ENST00000541711.1_Missense_Mutation_p.D152Y|VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.D263Y|VPS26A_ENST00000546041.1_Missense_Mutation_p.D246Y			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	263					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AACAATGAGAGATGTGAACAA	0.363																																					p.D263Y	Colon(90;545 1358 4729 6702 16773)	.											.	.	.	0			c.G787T						.						95	100	98					10																	70928304		2203	4300	6503	SO:0001583	missense	9559	exon8			ATGAGAGATGTGA	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.787G>T	10.37:g.70928304G>T	ENSP00000362480:p.Asp263Tyr	55	0		53	4	NM_004896	A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	CCDS7286.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810837	0.90707	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.85022	0.5602	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.88034	0.2777	9	0.72032	D	0.01	-11.9614	18.4875	0.90835	0.0:0.0:1.0:0.0	.	246;263	F5H4L7;O75436	.;VP26A_HUMAN	Y	263;263;246;152	.	ENSP00000263559:D263Y	D	+	1	0	VPS26A	70598310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.453000	0.82957	0.563000	0.77884	GAT	.		0.363	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		T	70928304	G	T	70928304	3	4	31	1	0	0	0	0	1	0	0	0	17246	942	33	3	817	3	VPS26A	10	70928304	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	2546782	70928304	64606443	78	4912											
FAM35A	54537	hgsc.bcm.edu	37	10	88946934	88946934	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr10:88946934C>T	ENST00000298784.1	+	8	2399	c.2285C>T	c.(2284-2286)gCa>gTa	p.A762V	FAM35A_ENST00000298786.4_Missense_Mutation_p.A831V	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	762										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AACATTTCTGCAGACTGCCTC	0.388																																					p.A762V	Ovarian(175;703 2004 25460 32514 43441)	.											.	.	.	0			c.C2285T						.						119	99	106					10																	88946934		2203	4298	6501	SO:0001583	missense	54537	exon8			TTTCTGCAGACTG	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.2285C>T	10.37:g.88946934C>T	ENSP00000298784:p.Ala762Val	104	0		80	3	NM_019054	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479003	0.63849	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.29142	1.58;1.6;1.6	3.13	3.13	0.36017	.	0.137951	0.49916	U	0.000139	T	0.19525	0.0469	N	0.19112	0.55	0.25002	N	0.991464	P;P	0.40476	0.59;0.718	B;B	0.35607	0.206;0.154	T	0.14924	-1.0455	10	0.45353	T	0.12	-6.4388	14.7807	0.69764	0.0:1.0:0.0:0.0	.	485;762	Q5VSZ0;Q86V20	.;FA35A_HUMAN	V	831;762;762	ENSP00000298786:A831V;ENSP00000298784:A762V;ENSP00000351064:A762V	ENSP00000298784:A762V	A	+	2	0	FAM35A	88936914	0.996000	0.38824	0.144000	0.22314	0.805000	0.45488	4.748000	0.62148	1.775000	0.52247	0.194000	0.17425	GCA	.		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		T	88946934	C	T	88946934	3	4	31	1	0	0	0	0	1	0	0	0	5575	710	25	3	2307	3	FAM35A	10	88946934	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	18018630	88946934	46587813	79	4913											
MUC2	4583	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1096456	1096456	+	Missense_Mutation	SNP	G	G	A	rs569670287		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr11:1096456G>A	ENST00000441003.2	+	34	6508	c.6481G>A	c.(6481-6483)Gac>Aac	p.D2161N	MUC2_ENST00000361558.6_Missense_Mutation_p.D299N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4523					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)	AGTTTACATCGACAACTACCA	0.572													G|||	1	0.000199681	0	0	5008	,	,		20705	0		0	False		,,,				2504	0.001				p.D2157N													MUC2_ENST00000441003,NS,carcinoma,0,1	MUC2	614	0			c.G6469A						.						113	125	121					11																	1096456		2176	4264	6440	SO:0001583	missense	4583	exon35			TACATCGACAACT	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.6481G>A	11.37:g.1096456G>A	ENSP00000415183:p.Asp2161Asn	22	0		26	4	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	g	14.32	2.500650	0.44455	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.59772	0.24;0.24	3.95	0.963	0.19649	.	.	.	.	.	T	0.43523	0.1251	L	0.52011	1.625	0.26564	N	0.973688	P	0.38504	0.634	B	0.29942	0.109	T	0.19679	-1.0298	9	0.40728	T	0.16	.	7.1852	0.25795	0.1612:0.1395:0.6993:0.0	.	2161	E7EUV1	.	N	2161;299	ENSP00000415183:D2161N;ENSP00000354885:D299N	ENSP00000354885:D299N	D	+	1	0	MUC2	1086456	1.000000	0.71417	0.147000	0.22382	0.126000	0.20510	5.245000	0.65405	0.016000	0.14998	0.479000	0.44913	GAC	.		0.572	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1096456	G	A	1096456	3	1	31	1	0	0	0	0	1	0	0	0	10013	1058	37	1	6607	1	MUC2	11	1096456	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		1096456	133910060	80	4914											
MRGPRE	116534	hgsc.bcm.edu;broad.mit.edu	37	11	3249154	3249154	+	Silent	SNP	G	G	A	rs373696773		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr11:3249154G>A	ENST00000389832.5	-	2	1182	c.876C>T	c.(874-876)gaC>gaT	p.D292D	MRGPRE_ENST00000436689.2_Silent_p.D291D|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	292						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)		GCTCAGCCTCGTCTCCCAGCG	0.741																																					p.D292D		.											.	.	.	0			c.C876T						.	G		0,3636		0,0,1818	6	8	8		873	-7.1	0	11		8	1,7923		0,1,3961	no	coding-synonymous	MRGPRE	NM_001039165.2		0,1,5779	AA,AG,GG		0.0126,0.0,0.0087		291/312	3249154	1,11559	1818	3962	5780	SO:0001819	synonymous_variant	116534	exon2			AGCCTCGTCTCCC	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.876C>T	11.37:g.3249154G>A		13	0		8	6	NM_001039165	Q2M1V7	Silent	SNP	ENST00000389832.5	37																																																																																				.		0.741	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		A	3249154	G	A	3249154	2	1	31	1	0	0	0	0	0	0	0	1	9802	1136	40	1		1	MRGPRE	11	3249154	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	2152698	3249154	131757362	81	4915											
DEPDC7	91614	hgsc.bcm.edu	37	11	33054930	33054930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr11:33054930G>T	ENST00000241051.3	+	9	1557	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	DEPDC7_ENST00000311388.3_Nonsense_Mutation_p.E480*	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	489					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						TTCTGCCAAAGAGAAGAAAAA	0.333																																					p.E489X		.											.	.	.	0			c.G1465T						.						80	79	79					11																	33054930		1803	4059	5862	SO:0001587	stop_gained	91614	exon9			GCCAAAGAGAAGA		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.1465G>T	11.37:g.33054930G>T	ENSP00000241051:p.Glu489*	73	0		90	4	NM_001077242	G5E941|Q8N602|Q8NCU9|Q9UGK5	Nonsense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	39	7.477684	0.98309	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	.	.	.	5.13	5.13	0.70059	.	0.048874	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.5097	18.9364	0.92588	0.0:0.0:1.0:0.0	.	.	.	.	X	489;480	.	ENSP00000241051:E489X	E	+	1	0	DEPDC7	33011506	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.547000	0.82146	2.540000	0.85666	0.460000	0.39030	GAG	.		0.333	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		T	33054930	G	T	33054930	4	4	31	1	0	0	0	0	0	1	0	0	4458	943	33	3	1549	3	DEPDC7	11	33054930	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	29805776	33054930	101951586	82	4916											
TTC17	55761	hgsc.bcm.edu	37	11	43465625	43465625	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr11:43465625G>A	ENST00000039989.4	+	18	2545	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R901H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	844					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						CAGGTCAAACGTGTAAAGAAA	0.368																																					p.R844H		.											TTC17,right_upper_lobe,carcinoma,0,1	TTC17	0	0			c.G2531A						.						80	79	80					11																	43465625		2203	4300	6503	SO:0001583	missense	55761	exon18			TCAAACGTGTAAA	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.2531G>A	11.37:g.43465625G>A	ENSP00000039989:p.Arg844His	53	0		47	2	NM_018259	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120779	0.94385	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.65364	-0.15;0.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.71013	-0.4715	10	0.48119	T	0.1	-12.2899	18.4816	0.90813	0.0:0.0:1.0:0.0	.	901;844;901	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	901;844	ENSP00000299240:R901H;ENSP00000039989:R844H	ENSP00000039989:R844H	R	+	2	0	TTC17	43422201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.864000	0.87037	2.809000	0.96659	0.555000	0.69702	CGT	.		0.368	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43465625	G	A	43465625	3	1	31	1	0	0	0	0	1	0	0	0	16733	1145	40	1	2601	1	TTC17	11	43465625	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	10410695	43465625	91540891	83	4917											
B3GNT6	192134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	76751719	76751719	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr11:76751719C>T	ENST00000533140.1	+	2	1262	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	B3GNT6_ENST00000354301.5_Missense_Mutation_p.A374V|B3GNT6_ENST00000421061.1_Missense_Mutation_p.A253V			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CACAGCCCCGCGCTCAGCTGT	0.657																																					p.A374V		.											.	.	.	0			c.C1121T						.						15	17	16					11																	76751719		2142	4246	6388	SO:0001583	missense	192134	exon5			GCCCCGCGCTCAG	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.1124C>T	11.37:g.76751719C>T	ENSP00000435352:p.Ala375Val	45	0		45	17	NM_138706	Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733869	0.30684	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.42513	0.97;0.97;0.97	2.9	-1.47	0.08772	.	0.669611	0.15074	U	0.282008	T	0.26666	0.0652	L	0.36672	1.1	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.14337	-1.0476	10	0.33940	T	0.23	.	6.2067	0.20606	0.2562:0.3848:0.359:0.0	.	374	Q6ZMB0	B3GN6_HUMAN	V	375;374;253	ENSP00000435352:A375V;ENSP00000346256:A374V;ENSP00000403463:A253V	ENSP00000346256:A374V	A	+	2	0	B3GNT6	76429367	0.000000	0.05858	0.021000	0.16686	0.110000	0.19582	0.027000	0.13621	-0.325000	0.08577	0.462000	0.41574	GCG	.		0.657	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		T	76751719	C	T	76751719	3	4	31	1	0	0	0	0	1	0	0	0	1262	768	27	1	1126	1	B3GNT6	11	76751719	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	33286094	76751719	58254797	84	4918											
OR8B3	390271	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	124266860	124266860	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr11:124266860A>G	ENST00000354597.3	-	1	404	c.388T>C	c.(388-390)Ttg>Ctg	p.L130L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	130						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)		TTATACAGCAATGGATTACAG	0.458																																					p.L130L		.											.	.	.	0			c.T388C						.						49	43	45					11																	124266860		2201	4299	6500	SO:0001819	synonymous_variant	390271	exon1			ACAGCAATGGATT	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.388T>C	11.37:g.124266860A>G		54	0		42	24	NM_001005467	Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	CCDS31709.1																																																																																			.		0.458	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		G	124266860	A	G	124266860	2	3	31	1	0	0	0	0	0	0	0	1	11267	98	4	4		4	OR8B3	11	124266860	Silent	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09	47515141	124266860	10739656	85	4919											
ACAD8	27034	hgsc.bcm.edu	37	11	134128487	134128487	+	Missense_Mutation	SNP	G	G	T	rs35423297		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr11:134128487G>T	ENST00000281182.4	+	4	565	c.459G>T	c.(457-459)gaG>gaT	p.E153D	ACAD8_ENST00000543332.1_Missense_Mutation_p.E55D|ACAD8_ENST00000537423.1_Missense_Mutation_p.E76D|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	153					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)	p.E153D(1)		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)	GTACCATGGAGAAGTTTGCTT	0.488																																					p.E153D	GBM(65;238 1125 33403 41853 48889)	.											ACAD8,rectum,carcinoma,0,1	ACAD8	0	1	Substitution - Missense(1)	large_intestine(1)	c.G459T						.						129	90	103					11																	134128487		2201	4297	6498	SO:0001583	missense	27034	exon4			CATGGAGAAGTTT	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.459G>T	11.37:g.134128487G>T	ENSP00000281182:p.Glu153Asp	61	0		18	2	NM_014384	B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260296	0.39995	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99201	-5.55;-5.55;-5.55	5.56	5.56	0.83823	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.099177	0.64402	D	0.000002	D	0.96355	0.8811	L	0.37507	1.11	0.43988	D	0.996683	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.10450	0.003;0.005;0.001;0.001;0.005	D	0.91859	0.5498	10	0.37606	T	0.19	.	5.7791	0.18295	0.1166:0.0:0.6944:0.189	.	94;76;55;55;153	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	D	153;76;55;115	ENSP00000281182:E153D;ENSP00000443763:E76D;ENSP00000438302:E55D	ENSP00000281182:E153D	E	+	3	2	ACAD8	133633697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.909000	0.39917	2.605000	0.88082	0.655000	0.94253	GAG	.		0.488	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		T	134128487	G	T	134128487	3	4	31	1	0	0	0	0	1	0	0	0	110	933	33	3	473	3	ACAD8	11	134128487	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	9861627	134128487	878029	86	4920											
KRT3	3850	hgsc.bcm.edu	37	12	53183978	53183978	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr12:53183978C>T	ENST00000417996.2	-	9	1809	c.1735G>A	c.(1735-1737)Ggc>Agc	p.G579S	KRT3_ENST00000309505.3_Missense_Mutation_p.G580S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	579	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						ccgctgctgccgccgccaaat	0.701																																					p.G579S		.											KRT3,colon,carcinoma,0,1	KRT3	0	0			c.G1735A						.						11	27	22					12																	53183978		1688	3324	5012	SO:0001583	missense	3850	exon9			TGCTGCCGCCGCC		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.1735G>A	12.37:g.53183978C>T	ENSP00000413479:p.Gly579Ser	21	1		47	5	NM_057088	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423846	0.25639	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;T	0.96967	-4.19;-0.98	4.29	2.33	0.28932	.	.	.	.	.	D	0.87815	0.6272	N	0.22421	0.69	0.09310	N	1	P	0.35807	0.522	B	0.18561	0.022	T	0.78841	-0.2045	9	0.08381	T	0.77	.	6.4219	0.21748	0.0:0.6462:0.0:0.3538	.	579	P12035	K2C3_HUMAN	S	579;580	ENSP00000413479:G579S;ENSP00000312206:G580S	ENSP00000312206:G580S	G	-	1	0	KRT3	51470245	0.003000	0.15002	0.096000	0.21009	0.109000	0.19521	-0.125000	0.10579	0.456000	0.26937	0.561000	0.74099	GGC	.		0.701	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53183978	C	T	53183978	3	4	31	1	0	0	0	0	1	0	0	0	8493	652	23	1	155	1	KRT3	12	53183978	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09		53183978	80667917	87	4921											
PPM1H	57460	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	63042370	63042370	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr12:63042370G>A	ENST00000228705.6	-	10	1744	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	snoU13_ENST00000459527.1_RNA|PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	482	PP2C-like.						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)		CTGTCCTTCAGCACACCCCGG	0.512																																					p.L482L		.											.	.	.	0			c.C1444T						.						62	66	65					12																	63042370		2088	4234	6322	SO:0001819	synonymous_variant	57460	exon10			CCTTCAGCACACC	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.1444C>T	12.37:g.63042370G>A		35	0		58	4	NM_020700	B1Q2A9|B2RXG4|Q6PI86	Silent	SNP	ENST00000228705.6	37	CCDS44934.1																																																																																			.		0.512	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		A	63042370	G	A	63042370	2	1	31	1	0	0	0	0	0	0	0	1	12383	962	34	3		3	PPM1H	12	63042370	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	9858392	63042370	70809525	88	4922											
C12orf64	283310	hgsc.bcm.edu;bcgsc.ca	37	12	80626733	80626733	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr12:80626733G>T	ENST00000547103.1	+	8	652	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	OTOGL_ENST00000458043.2_Missense_Mutation_p.V216L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	216	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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						CTACATTCTTGTGAAAACAAC	0.403																																					p.V216L		.											.	.	.	0			c.G646T						.						92	87	88					12																	80626733		1857	4098	5955	SO:0001583	missense	283310	exon8			ATTCTTGTGAAAA	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.646G>T	12.37:g.80626733G>T	ENSP00000447211:p.Val216Leu	70	0		69	4	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.900446	0.92035	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.58797	0.31;0.31	5.92	5.92	0.95590	.	.	.	.	.	T	0.63965	0.2556	L	0.38175	1.15	0.80722	D	1	.	.	.	.	.	.	T	0.58053	-0.7704	7	0.37606	T	0.19	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	.	.	.	L	216	ENSP00000447211:V216L;ENSP00000400895:V216L	ENSP00000400895:V216L	V	+	1	0	OTOGL	79150864	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.476000	0.97823	2.801000	0.96364	0.650000	0.86243	GTG	.		0.403	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		T	80626733	G	T	80626733	3	4	31	1	0	0	0	0	1	0	0	0	1712	1377	48	3	676	3	C12orf64	12	80626733	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	17584363	80626733	53225162	89	4923											
ABCC4	10257	hgsc.bcm.edu;bcgsc.ca	37	13	95816668	95816668	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr13:95816668G>T	ENST00000376887.4	-	16	2253	c.2139C>A	c.(2137-2139)gtC>gtA	p.V713V	ABCC4_ENST00000412704.1_Intron|ABCC4_ENST00000536256.1_Silent_p.V638V|ABCC4_ENST00000431522.1_Silent_p.V713V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	713					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)	GGAAAATGAAGACAATCCAGT	0.383																																					p.V713V		.											.	.	.	0			c.C2139A						.						107	99	102					13																	95816668		2203	4300	6503	SO:0001819	synonymous_variant	10257	exon16			AATGAAGACAATC	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.2139C>A	13.37:g.95816668G>T		117	0		91	4	NM_005845	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																			.		0.383	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		T	95816668	G	T	95816668	2	4	31	1	0	0	0	0	0	0	0	1	55	929	33	3		3	ABCC4	13	95816668	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		95816668	19353210	90	4924											
PROZ	8858	hgsc.bcm.edu	37	13	113814370	113814370	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr13:113814370G>T	ENST00000375547.2	+	2	120	c.113G>T	c.(112-114)tGg>tTg	p.W38L	PROZ_ENST00000342783.4_Missense_Mutation_p.W60L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	38					blood coagulation (GO:0007596)|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 vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.W38L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	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_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	CTGGTGAGGTGGAAGCGTGCG	0.502																																					p.W60L		.											PROZ,ear,carcinoma,0,1	PROZ	0	1	Substitution - Missense(1)	skin(1)	c.G179T						.						142	162	155					13																	113814370		2203	4300	6503	SO:0001583	missense	8858	exon3			TGAGGTGGAAGCG	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.113G>T	13.37:g.113814370G>T	ENSP00000364697:p.Trp38Leu	36	0		43	2	NM_001256134	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	5.333	0.246808	0.10130	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.94687	-3.49;-3.45	4.0	2.08	0.27032	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.842832	0.10788	U	0.634050	D	0.90800	0.7111	L	0.48362	1.52	0.23076	N	0.998331	B;B	0.28178	0.202;0.009	B;B	0.32805	0.153;0.029	D	0.84506	0.0619	10	0.87932	D	0	.	4.1865	0.10400	0.2244:0.3623:0.4133:0.0	.	60;38	P22891-2;P22891	.;PROZ_HUMAN	L	38;60	ENSP00000364697:W38L;ENSP00000344458:W60L	ENSP00000344458:W60L	W	+	2	0	PROZ	112862371	0.195000	0.23338	0.784000	0.31847	0.074000	0.17049	0.399000	0.20916	1.749000	0.51849	0.313000	0.20887	TGG	.		0.502	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		T	113814370	G	T	113814370	3	4	31	1	0	0	0	0	1	0	0	0	12604	1357	47	3	119	3	PROZ	13	113814370	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	17997702	113814370	1355508	91	4925											
ZFYVE26	23503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	68275965	68275965	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr14:68275965A>G	ENST00000347230.4	-	4	453	c.315T>C	c.(313-315)ctT>ctC	p.L105L	ZFYVE26_ENST00000555452.1_Silent_p.L105L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	105					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)		CTGACAATAAAAGAAACTCAA	0.413																																					p.L105L		.											.	.	.	0			c.T315C						.						102	103	102					14																	68275965		2203	4300	6503	SO:0001819	synonymous_variant	23503	exon4			CAATAAAAGAAAC	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.315T>C	14.37:g.68275965A>G		77	0		44	36	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																			.		0.413	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		G	68275965	A	G	68275965	2	3	31	1	0	0	0	0	0	0	0	1	17716	1	1	4		4	ZFYVE26	14	68275965	Silent	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09		68275965	39073575	92	4926											
RBM25	58517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	73576153	73576153	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr14:73576153C>T	ENST00000261973.7	+	14	1930	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	RBM25_ENST00000527432.1_Missense_Mutation_p.R549C|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	549	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AATCAGGCAGCGCCTTCTGGC	0.522																																					p.R549C		.											.	.	.	0			c.C1645T						.						96	94	95					14																	73576153		2203	4300	6503	SO:0001583	missense	58517	exon14			AGGCAGCGCCTTC	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1645C>T	14.37:g.73576153C>T	ENSP00000261973:p.Arg549Cys	54	0		25	19	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434001	0.83776	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.15017	2.46;2.46	5.97	5.09	0.68999	.	0.043771	0.85682	N	0.000000	T	0.23926	0.0579	M	0.69823	2.125	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.02933	-1.1092	10	0.72032	D	0.01	.	15.368	0.74538	0.0:0.9333:0.0:0.0667	.	549	P49756	RBM25_HUMAN	C	549	ENSP00000261973:R549C;ENSP00000431150:R549C	ENSP00000261973:R549C	R	+	1	0	RBM25	72645906	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.793000	0.55484	1.535000	0.49220	0.655000	0.94253	CGC	.		0.522	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		T	73576153	C	T	73576153	3	4	31	1	0	0	0	0	1	0	0	0	13170	768	27	1	1695	1	RBM25	14	73576153	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	5300188	73576153	33773387	93	4927											
C14orf159	80017	hgsc.bcm.edu	37	14	91666203	91666203	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr14:91666203C>T	ENST00000523771.1	+	11	1986	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	C14orf159_ENST00000412671.2_Silent_p.D466D|C14orf159_ENST00000256324.10_Silent_p.D466D|C14orf159_ENST00000521077.2_Silent_p.D466D|C14orf159_ENST00000428926.2_Silent_p.D461D|C14orf159_ENST00000525393.2_Silent_p.D337D|C14orf159_ENST00000522322.1_Silent_p.D461D|C14orf159_ENST00000518868.1_Silent_p.D466D|C14orf159_ENST00000520328.1_Silent_p.D449D|C14orf159_ENST00000523816.1_Silent_p.D461D			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	461						mitochondrion (GO:0005739)		p.D461D(1)		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)		ACCCCATTGACGATCTTTTTC	0.483																																					p.D466D		.											C14orf159,colon,carcinoma,0,2	C14orf159	0	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C1398T						.						185	173	177					14																	91666203		2203	4300	6503	SO:0001819	synonymous_variant	80017	exon11			CATTGACGATCTT	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.1383C>T	14.37:g.91666203C>T		79	0		33	2	NM_001102368	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	C	0.657	-0.807161	0.02819	.	.	ENSG00000133943	ENST00000522816	.	.	.	5.25	-3.47	0.04753	.	.	.	.	.	T	0.62865	0.2463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60239	-0.7302	4	.	.	.	.	13.4582	0.61212	0.0:0.1255:0.0:0.8745	.	.	.	.	M	62	.	.	T	+	2	0	C14orf159	90735956	0.066000	0.20996	0.000000	0.03702	0.082000	0.17680	-0.774000	0.04684	-0.945000	0.03681	0.563000	0.77884	ACG	.		0.483	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		T	91666203	C	T	91666203	2	4	31	1	0	0	0	0	0	0	0	1	1760	535	19	1		1	C14orf159	14	91666203	Silent	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	18090050	91666203	15683337	94	4928											
PPP1R13B	23368	hgsc.bcm.edu	37	14	104202439	104202439	+	Missense_Mutation	SNP	G	G	T	rs371359449		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr14:104202439G>T	ENST00000202556.9	-	16	3414	c.3132C>A	c.(3130-3132)gaC>gaA	p.D1044E	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_3'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	1044	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1044D(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGGTGAGGGCGTCCCCTTCGT	0.607																																					p.D1044E		.											PPP1R13B,colon,carcinoma,0,1	PPP1R13B	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C3132A						.						120	125	124					14																	104202439		2130	4225	6355	SO:0001583	missense	23368	exon16			GAGGGCGTCCCCT	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.3132C>A	14.37:g.104202439G>T	ENSP00000202556:p.Asp1044Glu	58	0		47	2	NM_015316	B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178155	0.78564	.	.	ENSG00000088808	ENST00000202556	T	0.59364	0.27	5.39	-7.32	0.01436	Src homology-3 domain (5);	0.045961	0.85682	D	0.000000	T	0.53899	0.1825	N	0.20483	0.58	0.80722	D	1	D	0.59357	0.985	D	0.69824	0.966	T	0.65261	-0.6211	10	0.37606	T	0.19	.	15.8601	0.79014	0.3628:0.0:0.6372:0.0	.	1044	Q96KQ4	ASPP1_HUMAN	E	1044	ENSP00000202556:D1044E	ENSP00000202556:D1044E	D	-	3	2	PPP1R13B	103272192	0.978000	0.34361	0.785000	0.31869	0.972000	0.66771	0.261000	0.18442	-1.423000	0.02002	-1.056000	0.02311	GAC	.		0.607	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		T	104202439	G	T	104202439	3	4	31	1	0	0	0	0	1	0	0	0	12399	1136	40	2	148	2	PPP1R13B	14	104202439	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	12536236	104202439	3147101	95	4929											
RYR3	6263	hgsc.bcm.edu	37	15	34102761	34102761	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr15:34102761G>A	ENST00000389232.4	+	71	10178	c.10108G>A	c.(10108-10110)Gca>Aca	p.A3370T	RYR3_ENST00000415757.3_Missense_Mutation_p.A3365T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3370					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)	p.A3370T(1)		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)		CATCGTGGCTGCACTCAAGAA	0.522																																					p.A3370T		.											RYR3,NS,carcinoma,0,1	RYR3	0	1	Substitution - Missense(1)	endometrium(1)	c.G10108A						.						78	96	90					15																	34102761		1964	4159	6123	SO:0001583	missense	6263	exon71			GTGGCTGCACTCA		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.10108G>A	15.37:g.34102761G>A	ENSP00000373884:p.Ala3370Thr	53	0		43	3	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544222	0.45280	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.66099	-0.19	5.15	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	N	0.12746	0.255	0.53005	D	0.99996	D;P	0.71674	0.998;0.589	D;B	0.77557	0.99;0.325	T	0.56583	-0.7955	10	0.25751	T	0.34	.	9.8782	0.41216	0.154:0.0:0.846:0.0	.	3365;3370	Q15413-2;Q15413	.;RYR3_HUMAN	T	3370;3370;3365	ENSP00000373884:A3370T	ENSP00000354735:A3365T	A	+	1	0	RYR3	31890053	1.000000	0.71417	0.735000	0.30896	0.996000	0.88848	4.756000	0.62205	1.393000	0.46605	0.561000	0.74099	GCA	.		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34102761	G	A	34102761	3	1	31	1	0	0	0	0	1	0	0	0	13815	1319	46	3	10390	3	RYR3	15	34102761	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		34102761	68428631	96	4930											
CEP152	22995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	49030571	49030571	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr15:49030571C>A	ENST00000380950.2	-	27	5195	c.5008G>T	c.(5008-5010)Gat>Tat	p.D1670Y	CEP152_ENST00000399334.3_Missense_Mutation_p.D1614Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1670					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTTTGAAATCTGACTTTAAT	0.408																																					p.D1670Y		.											.	.	.	0			c.G5008T						.						178	170	173					15																	49030571		1933	4129	6062	SO:0001583	missense	22995	exon27			TGAAATCTGACTT	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5008G>T	15.37:g.49030571C>A	ENSP00000370337:p.Asp1670Tyr	118	0		101	22	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820890	0.71028	.	.	ENSG00000103995	ENST00000399334	T	0.60797	0.16	4.76	4.76	0.60689	.	0.000000	0.45867	D	0.000339	T	0.62913	0.2467	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.65981	-0.6036	10	0.87932	D	0	-11.8523	12.4117	0.55471	0.0:0.9161:0.0:0.0839	.	1614	O94986	CE152_HUMAN	Y	1614	ENSP00000382271:D1614Y	ENSP00000382271:D1614Y	D	-	1	0	CEP152	46817863	0.060000	0.20803	0.588000	0.28705	0.399000	0.30720	1.232000	0.32636	2.475000	0.83589	0.563000	0.77884	GAT	.		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		A	49030571	C	A	49030571	3	1	31	1	0	0	0	0	1	0	0	0	3255	913	32	3	128	3	CEP152	15	49030571	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	14927810	49030571	53500821	97	4931											
KIF22	3835	hgsc.bcm.edu	37	16	29810382	29810382	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr16:29810382G>T	ENST00000160827.4	+	5	676	c.636G>T	c.(634-636)caG>caT	p.Q212H	KIF22_ENST00000400751.5_Missense_Mutation_p.Q144H|KIF22_ENST00000561482.1_Missense_Mutation_p.Q144H|KIF22_ENST00000569382.2_Missense_Mutation_p.Q144H|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	212	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)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GTCTCTCCCAGAAGCCCATCA	0.577																																					p.Q212H		.											.	.	.	0			c.G636T						.						73	78	76					16																	29810382		2197	4296	6493	SO:0001583	missense	3835	exon5			CTCCCAGAAGCCC	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.636G>T	16.37:g.29810382G>T	ENSP00000160827:p.Gln212His	97	0		97	4	NM_007317	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246472	0.22796	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75260	-0.92;-0.92	5.95	3.68	0.42216	Kinesin, motor domain (4);	.	.	.	.	T	0.58637	0.2136	N	0.16790	0.44	0.80722	D	1	B;B	0.24576	0.106;0.06	B;B	0.27715	0.082;0.036	T	0.55768	-0.8089	9	0.34782	T	0.22	.	11.2049	0.48762	0.1741:0.0:0.8259:0.0	.	144;212	B7Z265;Q14807	.;KIF22_HUMAN	H	212;144	ENSP00000160827:Q212H;ENSP00000383562:Q144H	ENSP00000160827:Q212H	Q	+	3	2	KIF22	29717883	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.161000	0.31773	1.526000	0.49068	0.655000	0.94253	CAG	.		0.577	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			T	29810382	G	T	29810382	3	4	31	1	0	0	0	0	1	0	0	0	8317	933	33	3	654	3	KIF22	16	29810382	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		29810382	60544371	98	4932											
MVP	9961	broad.mit.edu	37	16	29855899	29855899	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr16:29855899G>T	ENST00000357402.5	+	11	1858	c.1720G>T	c.(1720-1722)Gcc>Tcc	p.A574S	MVP_ENST00000395353.1_Missense_Mutation_p.A574S	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	574					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						TGCCTGCAAAGCCATCGCATC	0.552																																					p.A574S													.	MVP	80	0			c.G1720T						.						88	83	84					16																	29855899		2197	4300	6497	SO:0001583	missense	9961	exon11			TGCAAAGCCATCG	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.1720G>T	16.37:g.29855899G>T	ENSP00000349977:p.Ala574Ser	33	0		31	3	NM_017458	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790368	0.90367	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.44881	0.91;0.91	5.91	4.96	0.65561	Shoulder domain (1);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	M	0.61703	1.905	0.80722	D	1	D	0.58620	0.983	P	0.58077	0.832	T	0.50524	-0.8818	10	0.23891	T	0.37	-28.863	12.9861	0.58592	0.078:0.0:0.922:0.0	.	574	Q14764	MVP_HUMAN	S	574	ENSP00000349977:A574S;ENSP00000378760:A574S	ENSP00000349977:A574S	A	+	1	0	MVP	29763400	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.354000	0.73036	1.515000	0.48885	0.655000	0.94253	GCC	.		0.552	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		T	29855899	G	T	29855899	3	4	31	1	0	0	0	0	1	0	0	0	10034	971	34	3	1758	3	MVP	16	29855899	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	45517	29855899	60498854	99	4933											
ABCC12	94160	hgsc.bcm.edu	37	16	48138174	48138174	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr16:48138174C>T	ENST00000311303.3	-	20	3124	c.2779G>A	c.(2779-2781)Gca>Aca	p.A927T	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	927	ABC transmembrane type-1 2. {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)	p.A927T(1)		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)				AAGTTCTCTGCGTGAAACGGC	0.488																																					p.A927T		.											ABCC12,rectum,carcinoma,0,1	ABCC12	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2779A						.						170	160	164					16																	48138174		2201	4300	6501	SO:0001583	missense	94160	exon20			TCTCTGCGTGAAA	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.2779G>A	16.37:g.48138174C>T	ENSP00000311030:p.Ala927Thr	36	0		29	2	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050415	0.55218	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.89681	-2.55	5.55	3.61	0.41365	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.308605	0.37857	N	0.001905	T	0.80639	0.4661	L	0.31526	0.94	0.80722	D	1	B	0.31989	0.35	B	0.34180	0.177	T	0.73742	-0.3887	10	0.18710	T	0.47	.	8.941	0.35729	0.0:0.8273:0.0:0.1727	.	927	Q96J65	MRP9_HUMAN	T	927;845	ENSP00000311030:A927T	ENSP00000311030:A927T	A	-	1	0	ABCC12	46695675	0.939000	0.31865	0.327000	0.25402	0.960000	0.62799	1.982000	0.40638	1.336000	0.45506	0.655000	0.94253	GCA	.		0.488	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		T	48138174	C	T	48138174	3	4	31	1	0	0	0	0	1	0	0	0	52	768	27	1	1340	1	ABCC12	16	48138174	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	18282275	48138174	42216579	100	4934											
SNX20	124460	hgsc.bcm.edu;bcgsc.ca	37	16	50707593	50707593	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr16:50707593G>A	ENST00000330943.4	-	4	846	c.675C>T	c.(673-675)gcC>gcT	p.A225A	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	225					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						CCGGGACGGCGGCCGCAGGGC	0.771																																					p.A225A		.											.	.	.	0			c.C675T						.						2	2	2					16																	50707593		1148	2399	3547	SO:0001819	synonymous_variant	124460	exon4			GACGGCGGCCGCA	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.675C>T	16.37:g.50707593G>A		24	0		14	9	NM_182854	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	ENST00000330943.4	37	CCDS10745.1																																																																																			.		0.771	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		A	50707593	G	A	50707593	2	1	31	1	0	0	0	0	0	0	0	1	14937	1103	39	1		1	SNX20	16	50707593	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	2569419	50707593	39647160	101	4935											
CNTNAP4	85445	hgsc.bcm.edu	37	16	76486447	76486447	+	Missense_Mutation	SNP	G	G	T	rs139625830		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr16:76486447G>T	ENST00000476707.1	+	7	1262	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V299L|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.V371L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V323L|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	372					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						ATCTATGCCCGTGACTTTTCT	0.398																																					p.V299L		.											CNTNAP4_ENST00000478060,colon,carcinoma,0,6	CNTNAP4_ENST00000478060	0	0			c.G895T						.						97	96	96					16																	76486447		2198	4300	6498	SO:0001583	missense	85445	exon7			ATGCCCGTGACTT	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.1123G>T	16.37:g.76486447G>T	ENSP00000417628:p.Val375Leu	67	0		40	2	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	14.43	2.532556	0.45073	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.52	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.210872	0.23502	N	0.047488	T	0.74419	0.3714	.	.	.	0.35424	D	0.793485	B;B;B;B	0.18610	0.003;0.003;0.029;0.008	B;B;B;B	0.23574	0.047;0.006;0.038;0.015	T	0.75744	-0.3210	9	0.59425	D	0.04	.	17.7626	0.88468	0.0:0.1471:0.8529:0.0	.	299;375;347;372	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	371;323;299;375	ENSP00000306893:V371L;ENSP00000439733:V323L;ENSP00000418741:V299L;ENSP00000417628:V375L	ENSP00000306893:V371L	V	+	1	0	CNTNAP4	75043948	0.998000	0.40836	0.996000	0.52242	0.879000	0.50718	2.763000	0.47605	0.786000	0.33708	0.655000	0.94253	GTG	.		0.398	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		T	76486447	G	T	76486447	3	4	31	1	0	0	0	0	1	0	0	0	3656	1145	40	2	1157	2	CNTNAP4	16	76486447	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	25778854	76486447	13868306	102	4936											
DHX8	1659	hgsc.bcm.edu;bcgsc.ca	37	17	41597543	41597543	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr17:41597543C>T	ENST00000262415.3	+	19	2917	c.2845C>T	c.(2845-2847)Cca>Tca	p.P949S	DHX8_ENST00000540306.1_Missense_Mutation_p.P949S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	949					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)		CATGGATGCCCCACCTATGGA	0.542											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P949S	NSCLC(56;1548 1661 49258 49987)	.											.	.	.	0			c.C2845T						.						142	125	131					17																	41597543		2203	4300	6503	SO:0001583	missense	1659	exon19			GATGCCCCACCTA	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.2845C>T	17.37:g.41597543C>T	ENSP00000262415:p.Pro949Ser	60	0	902	74	4	NM_004941		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063388	0.93898	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03152	4.03;4.03	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	H	0.99922	4.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70579	-0.4833	10	0.87932	D	0	.	19.0419	0.93004	0.0:1.0:0.0:0.0	.	949;949	F5H658;Q14562	.;DHX8_HUMAN	S	949	ENSP00000437886:P949S;ENSP00000262415:P949S	ENSP00000262415:P949S	P	+	1	0	DHX8	38953069	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.659000	0.83766	2.758000	0.94735	0.561000	0.74099	CCA	.		0.542	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			T	41597543	C	T	41597543	3	4	31	1	0	0	0	0	1	0	0	0	4529	623	22	3	2919	3	DHX8	17	41597543	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09		41597543	39597667	103	4937											
TTLL6	284076	hgsc.bcm.edu	37	17	46862554	46862554	+	Missense_Mutation	SNP	G	G	T	rs148198060		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr17:46862554G>T	ENST00000393382.3	-	13	1912	c.1771C>A	c.(1771-1773)Cca>Aca	p.P591T	TTLL6_ENST00000433608.2_Missense_Mutation_p.P284T	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						AATGTCAATGGCTGGATGTAC	0.498																																					p.P591T		.											TTLL6_ENST00000393382,NS,carcinoma,0,2	TTLL6_ENST00000393382	0	0			c.C1771A						.						89	80	83					17																	46862554		2203	4300	6503	SO:0001583	missense	284076	exon13			TCAATGGCTGGAT	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.1771C>A	17.37:g.46862554G>T	ENSP00000377043:p.Pro591Thr	45	0		47	2	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115090	0.37339	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.61	2.63	0.31362	.	13.783700	0.00166	N	0.000000	T	0.58793	0.2147	M	0.61703	1.905	0.09310	N	1	P;P;D	0.64830	0.931;0.931;0.994	P;P;P	0.60949	0.554;0.554;0.881	T	0.25012	-1.0144	9	0.49607	T	0.09	.	6.4609	0.21956	0.2136:0.0:0.7864:0.0	.	543;344;284	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	591;284;269;543	.	ENSP00000302547:P284T	P	-	1	0	TTLL6	44217553	0.909000	0.30893	0.521000	0.27850	0.011000	0.07611	1.570000	0.36439	1.309000	0.44985	0.561000	0.74099	CCA	.		0.498	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		T	46862554	G	T	46862554	3	4	31	1	0	0	0	0	1	0	0	0	16780	1203	42	3	916	3	TTLL6	17	46862554	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	5265011	46862554	34332656	104	4938											
SPATA20	64847	hgsc.bcm.edu	37	17	48629444	48629444	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr17:48629444G>T	ENST00000356488.4	+	13	1895	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	SPATA20_ENST00000006658.6_Missense_Mutation_p.Q620H|SPATA20_ENST00000393244.3_Missense_Mutation_p.Q560H|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	604					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)			TGCGGCTGCAGGACACACAGG	0.657																																					p.Q620H		.											.	.	.	0			c.G1860T						.						30	35	33					17																	48629444		2203	4299	6502	SO:0001583	missense	64847	exon14			GCTGCAGGACACA		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.1812G>T	17.37:g.48629444G>T	ENSP00000348878:p.Gln604His	92	0		94	4	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872016	0.72180	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.53423	0.62;0.62;0.62	4.77	2.77	0.32553	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.059953	0.64402	D	0.000002	T	0.60586	0.2280	M	0.76433	2.335	0.54753	D	0.999986	D;P	0.54772	0.968;0.918	P;P	0.57283	0.661;0.817	T	0.62167	-0.6911	10	0.62326	D	0.03	-14.6466	10.9587	0.47372	0.1537:0.0:0.8463:0.0	.	604;620	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	H	620;604;560	ENSP00000006658:Q620H;ENSP00000348878:Q604H;ENSP00000376935:Q560H	ENSP00000006658:Q620H	Q	+	3	2	SPATA20	45984443	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	4.664000	0.61540	0.438000	0.26450	-0.140000	0.14226	CAG	.		0.657	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		T	48629444	G	T	48629444	3	4	31	1	0	0	0	0	1	0	0	0	15053	991	35	3	1914	3	SPATA20	17	48629444	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	1766890	48629444	32565766	105	4939											
TLK2	11011	hgsc.bcm.edu	37	17	60679483	60679483	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr17:60679483G>T	ENST00000326270.9	+	20	2135	c.1867G>T	c.(1867-1869)Gat>Tat	p.D623Y	TLK2_ENST00000343388.7_Missense_Mutation_p.D569Y|TLK2_ENST00000542523.1_Missense_Mutation_p.D569Y|TLK2_ENST00000346027.5_Missense_Mutation_p.D601Y|TLK2_ENST00000582809.1_Missense_Mutation_p.D452Y	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	623	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CATGGATGATGATAGCTACAA	0.388																																					p.D601Y		.											TLK2_ENST00000346027,right_upper_lobe,carcinoma,0,3	TLK2_ENST00000346027	0	0			c.G1801T						.						99	92	95					17																	60679483		2203	4297	6500	SO:0001583	missense	11011	exon19			GATGATGATAGCT	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1867G>T	17.37:g.60679483G>T	ENSP00000316512:p.Asp623Tyr	58	0		62	3	NM_006852	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	G	15.18	2.756303	0.49362	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.78	5.78	0.91487	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	0.41143	0.1146	L	0.39397	1.21	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.996;0.997	D;D;D;D	0.91635	0.999;0.973;0.964;0.984	T	0.12293	-1.0553	10	0.87932	D	0	.	18.996	0.92813	0.0:0.0:1.0:0.0	.	623;569;601;601	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Y	601;569;623;569	ENSP00000275780:D601Y;ENSP00000340800:D569Y;ENSP00000316512:D623Y;ENSP00000442311:D569Y	ENSP00000316512:D623Y	D	+	1	0	TLK2	58033215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.561000	0.74099	GAT	.		0.388	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		T	60679483	G	T	60679483	3	4	31	1	0	0	0	0	1	0	0	0	15991	1290	45	3	1871	3	TLK2	17	60679483	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	12050039	60679483	20515727	106	4940											
WIPI1	55062	hgsc.bcm.edu	37	17	66417950	66417950	+	Silent	SNP	G	G	A	rs146678987		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr17:66417950G>A	ENST00000262139.5	-	13	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	ARSG_ENST00000448504.2_3'UTR|WIPI1_ENST00000546360.1_Silent_p.C353C|WIPI1_ENST00000589459.1_5'UTR|MIR635_ENST00000384830.1_RNA|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	435					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						GATTTCCACGGCACAAGATTA	0.468																																					p.C435C		.											WIPI1,NS,carcinoma,0,1	WIPI1	0	0			c.C1305T						.						201	168	179					17																	66417950		2203	4300	6503	SO:0001819	synonymous_variant	55062	exon13			TCCACGGCACAAG		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.1305C>T	17.37:g.66417950G>A		41	0		53	3	NM_017983	Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	CCDS11677.1																																																																																			.		0.468	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		A	66417950	G	A	66417950	2	1	31	1	0	0	0	0	0	0	0	1	17419	1195	42	3		3	WIPI1	17	66417950	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	5738467	66417950	14777260	107	4941											
GPRC5C	55890	hgsc.bcm.edu	37	17	72436467	72436467	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr17:72436467C>T	ENST00000392627.1	+	2	1813	c.687C>T	c.(685-687)ggC>ggT	p.G229G	GPRC5C_ENST00000392629.2_Silent_p.G196G|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	184					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGGGCAGTGGCGAGGGCGGCC	0.622																																					p.G229G		.											GPRC5C_ENST00000392629,caecum,carcinoma,0,2	GPRC5C_ENST00000392629	0	0			c.C687T						.						47	47	47					17																	72436467		2203	4300	6503	SO:0001819	synonymous_variant	55890	exon2			CAGTGGCGAGGGC	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.687C>T	17.37:g.72436467C>T		35	0		33	2	NM_022036	B5BUN4|Q2NL85|Q9NZG5	Silent	SNP	ENST00000392627.1	37	CCDS11699.1																																																																																			.		0.622	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			T	72436467	C	T	72436467	2	4	31	1	0	0	0	0	0	0	0	1	6753	755	27	1		1	GPRC5C	17	72436467	Silent	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	6018517	72436467	8758743	108	4942											
C17orf77	146723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	72588674	72588674	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr17:72588674G>C	ENST00000392620.1	+	3	851	c.489G>C	c.(487-489)ttG>ttC	p.L163F	C17orf77_ENST00000328023.2_Missense_Mutation_p.L163F|CD300LD_ENST00000375352.1_5'Flank	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	163						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CCCAAGCATTGAGGAGCTGCG	0.587																																					p.L163F		.											.	.	.	0			c.G489C						.						101	82	88					17																	72588674		2203	4300	6503	SO:0001583	missense	146723	exon3			AGCATTGAGGAGC		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.489G>C	17.37:g.72588674G>C	ENSP00000376396:p.Leu163Phe	36	0		57	14	NM_152460		Missense_Mutation	SNP	ENST00000392620.1	37	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	G	2.504	-0.314440	0.05422	.	.	ENSG00000182352	ENST00000392620;ENST00000328023	T;T	0.57107	0.42;0.42	1.32	0.301	0.15781	.	.	.	.	.	T	0.26376	0.0644	N	0.08118	0	0.09310	N	1	P	0.47484	0.896	B	0.41619	0.361	T	0.09509	-1.0671	8	.	.	.	.	3.5624	0.07887	0.2691:0.0:0.7309:0.0	.	163	Q96MU5	CQ077_HUMAN	F	163	ENSP00000376396:L163F;ENSP00000329353:L163F	.	L	+	3	2	C17orf77	70100269	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.285000	0.18883	0.126000	0.18424	0.609000	0.83330	TTG	.		0.587	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		C	72588674	G	C	72588674	3	2	31	1	0	0	0	0	1	0	0	0	1888	1281	45	5	491	5	C17orf77	17	72588674	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	152207	72588674	8606536	109	4943											
C18orf54	162681	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	51888024	51888024	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr18:51888024C>A	ENST00000300091.5	+	3	627	c.295C>A	c.(295-297)Ctt>Att	p.L99I	C18orf54_ENST00000382911.4_Missense_Mutation_p.L99I|C18orf54_ENST00000578138.1_Intron	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	99						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)		TTTTGAAAACCTTGATCACAA	0.318																																					p.L99I		.											.	.	.	0			c.C295A						.						59	55	56					18																	51888024		2203	4298	6501	SO:0001583	missense	162681	exon3			GAAAACCTTGATC	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.295C>A	18.37:g.51888024C>A	ENSP00000300091:p.Leu99Ile	113	0		77	21	NM_173529	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824967	0.32237	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	D;D	0.97811	-4.55;-4.55	5.52	-0.238	0.13055	.	0.818073	0.10856	N	0.626597	D	0.95626	0.8578	M	0.73598	2.24	0.09310	N	1	B;B	0.32829	0.253;0.386	B;B	0.32677	0.107;0.15	D	0.90903	0.4770	10	0.72032	D	0.01	-2.6227	3.969	0.09444	0.0:0.2774:0.356:0.3666	.	99;99	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	I	99	ENSP00000300091:L99I;ENSP00000372368:L99I	ENSP00000300091:L99I	L	+	1	0	C18orf54	50142022	0.001000	0.12720	0.600000	0.28864	0.813000	0.45954	-0.364000	0.07583	0.022000	0.15160	0.557000	0.71058	CTT	.		0.318	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		A	51888024	C	A	51888024	3	1	31	1	0	0	0	0	1	0	0	0	1911	681	24	3	301	3	C18orf54	18	51888024	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09		51888024	26189224	110	4944											
ZNF407	55628	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	72776395	72776396	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	AG	AG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr18:72776395_72776396delAG	ENST00000299687.5	+	8	6718_6719	c.6718_6719delAG	c.(6718-6720)agafs	p.R2240fs		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2240					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)		TCAGAGCCAAAGAGAAAGCAGC	0.649																																					p.2239_2240del		.											.	.	.	0			c.6717_6718del						.																																			SO:0001589	frameshift_variant	55628	exon8			AGCCAAAGAGAAA	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.6718_6719delAG	18.37:g.72776397_72776398delAG	ENSP00000299687:p.Arg2240fs	66	0		53	15	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Del	DEL	ENST00000299687.5	37	CCDS45885.1																																																																																			.		0.649	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		-	72776396	AG	-	72776395	7	5	31	1	0	1	0	1	0	0	0	0	17935	64	3	0	6878	0	ZNF407	18	72776395	Frame_Shift_Del	DEL	AG	TCGA-ZH-A8Y4-01A-11D-A417-09	20888371	72776395	5300853	111	4945											
C18orf22	79863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	77802202	77802202	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr18:77802202A>C	ENST00000306735.5	+	5	697	c.559A>C	c.(559-561)Aat>Cat	p.N187H	RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	187					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGACAAGGGAAATGCAGCTCT	0.403																																					p.N187H		.											.	.	.	0			c.A559C						.						95	83	87					18																	77802202		2203	4300	6503	SO:0001583	missense	79863	exon5			AAGGGAAATGCAG	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.559A>C	18.37:g.77802202A>C	ENSP00000305696:p.Asn187His	73	0		39	10	NM_024805	Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	A	7.266	0.606155	0.14002	.	.	ENSG00000101546	ENST00000306735	T	0.41758	0.99	5.18	-6.99	0.01605	K homology domain-like, alpha/beta (1);Ribosome-binding factor A domain (1);	1.621700	0.03356	N	0.196890	T	0.19287	0.0463	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.11494	-1.0585	10	0.15066	T	0.55	-9.5546	3.0609	0.06199	0.2341:0.117:0.4373:0.2116	.	187	Q8N0V3	RBFA_HUMAN	H	187	ENSP00000305696:N187H	ENSP00000305696:N187H	N	+	1	0	RBFA	75903190	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.277000	0.08502	-1.470000	0.01888	0.477000	0.44152	AAT	.		0.403	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		C	77802202	A	C	77802202	3	2	31	1	0	0	0	0	1	0	0	0	1905	14	1	4	577	4	C18orf22	18	77802202	Missense_Mutation	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09	5025807	77802202	275046	112	4946											
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	1052002	1052002	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:1052002G>A	ENST00000263094.6	+	22	3255	c.3024G>A	c.(3022-3024)gtG>gtA	p.V1008V	ABCA7_ENST00000433129.1_Silent_p.V1008V|ABCA7_ENST00000435683.2_Silent_p.V870V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1008	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)		GAGACCGTGTGGCCGTGGTGG	0.672																																					p.V1008V		.											.	.	.	0			c.G3024A						.						76	50	59					19																	1052002		2192	4284	6476	SO:0001819	synonymous_variant	10347	exon22			CCGTGTGGCCGTG	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.3024G>A	19.37:g.1052002G>A		29	0		33	12	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			.		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1052002	G	A	1052002	2	1	31	1	0	0	0	0	0	0	0	1	37	1335	47	3		3	ABCA7	19	1052002	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		1052002	58076981	113	4947											
DOT1L	84444	hgsc.bcm.edu	37	19	2194519	2194519	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:2194519G>T	ENST00000398665.3	+	7	630	c.594G>T	c.(592-594)atG>atT	p.M198I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	198	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TCCAGACCATGGACCGCGAGT	0.582																																					p.M198I		.											.	.	.	0			c.G594T						.						105	108	107					19																	2194519		1921	4136	6057	SO:0001583	missense	84444	exon7			GACCATGGACCGC	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.594G>T	19.37:g.2194519G>T	ENSP00000381657:p.Met198Ile	89	0		93	4	NM_032482	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201998	0.79127	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.20881	2.04;2.04	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.41805	-0.9488	10	0.87932	D	0	-26.9195	15.8524	0.78943	0.0:0.0:1.0:0.0	.	198	Q8TEK3-2	.	I	198;198;174	ENSP00000381657:M198I;ENSP00000404284:M174I	ENSP00000221482:M198I	M	+	3	0	DOT1L	2145519	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.122000	0.94380	2.216000	0.71823	0.462000	0.41574	ATG	.		0.582	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2194519	G	T	2194519	3	4	31	1	0	0	0	0	1	0	0	0	4723	1348	47	3	620	3	DOT1L	19	2194519	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	1142517	2194519	56934464	114	4948											
MATK	4145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	3778217	3778217	+	Silent	SNP	G	G	A	rs373868622		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:3778217G>A	ENST00000310132.6	-	14	1886	c.1488C>T	c.(1486-1488)gcC>gcT	p.A496A	MATK_ENST00000395040.2_Silent_p.A455A|MATK_ENST00000585778.1_Silent_p.A495A|MATK_ENST00000395045.2_Silent_p.A497A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	496			A -> T (in dbSNP:rs35351680). {ECO:0000269|PubMed:17344846}.	ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703). {ECO:0000305}.	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)		TGGAGCCGTCGGCGTCCTGCC	0.736													g|||	1	0.000199681	8e-04	0	5008	,	,		13245	0		0	False		,,,				2504	0				p.A497A		.											.	.	.	0			c.C1491T						.	A	,,	2,4346		0,2,2172	10	11	11		1491,1365,1488	-5.1	0	19		11	4,8488		0,4,4242	no	coding-synonymous,coding-synonymous,coding-synonymous	MATK	NM_002378.3,NM_139354.2,NM_139355.2	,,	0,6,6414	AA,AG,GG		0.0471,0.046,0.0467	,,	497/509,455/467,496/508	3778217	6,12834	2174	4246	6420	SO:0001819	synonymous_variant	4145	exon14			GCCGTCGGCGTCC	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		ENST00000310132.6:c.1488C>T	19.37:g.3778217G>A		27	0		32	14	NM_002378	B3KNZ9|Q9NST8	Silent	SNP	ENST00000310132.6	37	CCDS12114.1																																																																																			.		0.736	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		A	3778217	G	A	3778217	2	1	31	1	0	0	0	0	0	0	0	1	9370	1103	39	1		1	MATK	19	3778217	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	1583698	3778217	55350766	115	4949											
XAB2	56949	bcgsc.ca	37	19	7690922	7690922	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:7690922G>T	ENST00000358368.4	-	6	703	c.666C>A	c.(664-666)caC>caA	p.H222Q	XAB2_ENST00000534844.1_Missense_Mutation_p.H219Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	222					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						CGCACAGCTCGTGCCACAGCT	0.672								Direct reversal of damage;Nucleotide excision repair (NER)																													p.H222Q													XAB2,rectum,carcinoma,0,1	XAB2	69	0			c.C666A						.						55	53	54					19																	7690922		2203	4300	6503	SO:0001583	missense	56949	exon6			CAGCTCGTGCCAC	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.666C>A	19.37:g.7690922G>T	ENSP00000351137:p.His222Gln	33	0		43	4	NM_020196	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301505	0.23736	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.62498	0.02;0.02	4.61	-1.35	0.09114	.	0.065141	0.64402	D	0.000012	T	0.30324	0.0761	N	0.03608	-0.345	0.44956	D	0.997971	B	0.09022	0.002	B	0.09377	0.004	T	0.02202	-1.1196	10	0.25751	T	0.34	-45.9916	7.5803	0.27961	0.6209:0.0:0.3791:0.0	.	222	Q9HCS7	SYF1_HUMAN	Q	222;219	ENSP00000351137:H222Q;ENSP00000438225:H219Q	ENSP00000351137:H222Q	H	-	3	2	XAB2	7596922	0.177000	0.23109	0.997000	0.53966	0.968000	0.65278	-0.545000	0.06069	-0.024000	0.13941	-0.266000	0.10368	CAC	.		0.672	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		T	7690922	G	T	7690922	3	4	31	1	0	0	0	0	1	0	0	0	17467	1136	40	2	1957	2	XAB2	19	7690922	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	3912705	7690922	51438061	116	4950											
MUC16	94025	hgsc.bcm.edu	37	19	9083333	9083333	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:9083333C>T	ENST00000397910.4	-	1	8685	c.8482G>A	c.(8482-8484)Gcc>Acc	p.A2828T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2828	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						TCAGACATGGCTGTAACCTCA	0.502																																					p.A2828T		.											MUC16_ENST00000397910,NS,carcinoma,0,2	MUC16_ENST00000397910	0	0			c.G8482A						.						113	109	110					19																	9083333		2023	4179	6202	SO:0001583	missense	94025	exon1			ACATGGCTGTAAC	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.8482G>A	19.37:g.9083333C>T	ENSP00000381008:p.Ala2828Thr	47	0		47	2	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.482153	0.26598	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.869	0.869	0.19096	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	.	.	.	D	0.60575	0.988	P	0.62885	0.908	T	0.44267	-0.9339	8	0.87932	D	0	.	5.0445	0.14477	0.0:1.0:0.0:0.0	.	2828	B5ME49	.	T	2828	ENSP00000381008:A2828T	ENSP00000381008:A2828T	A	-	1	0	MUC16	8944333	0.001000	0.12720	0.054000	0.19295	0.874000	0.50279	0.091000	0.15046	0.740000	0.32651	0.313000	0.20887	GCC	.		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9083333	C	T	9083333	3	4	31	1	0	0	0	0	1	0	0	0	10011	797	28	3	35377	3	MUC16	19	9083333	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	1392411	9083333	50045650	117	4951											
MUC16	94025	hgsc.bcm.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	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		.											MUC16_ENST00000397910,bladder,carcinoma,0,2	MUC16_ENST00000397910	0	0			c.T984C						.						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		31	1		34	2	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9090831	A	G	9090831	2	3	31	1	0	0	0	0	0	0	0	1	10011	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-ZH-A8Y4-01A-11D-A417-09	7498	9090831	50038152	118	4952											
ZNF846	162993	hgsc.bcm.edu	37	19	9869374	9869374	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:9869374G>T	ENST00000397902.2	-	6	792	c.379C>A	c.(379-381)Cca>Aca	p.P127T	ZNF846_ENST00000592859.1_5'UTR|ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	127					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						ATAAGAAATGGGTGTTCATTG	0.343																																					p.P127T		.											.	.	.	0			c.C379A						.						136	126	129					19																	9869374		1834	4091	5925	SO:0001583	missense	162993	exon6			GAAATGGGTGTTC	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.379C>A	19.37:g.9869374G>T	ENSP00000380999:p.Pro127Thr	33	0		64	4	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	4.494	0.091603	0.08632	.	.	ENSG00000196605	ENST00000397902	T	0.14266	2.52	2.15	1.07	0.20283	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.01284	-0.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	8	.	.	.	.	1.4914	0.02457	0.462:0.0:0.2298:0.3082	.	127	Q147U1	ZN846_HUMAN	T	127	ENSP00000380999:P127T	.	P	-	1	0	ZNF846	9730374	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.302000	0.08221	0.299000	0.22661	0.558000	0.71614	CCA	.		0.343	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		T	9869374	G	T	9869374	3	4	31	1	0	0	0	0	1	0	0	0	18240	1232	43	3	1226	3	ZNF846	19	9869374	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	778543	9869374	49259609	119	4953											
TYK2	7297	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	10468512	10468519	+	Frame_Shift_Del	DEL	CCACTTGT	CCACTTGT	-			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	CCACTTGT	CCACTTGT	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:10468512_10468519delCCACTTGT	ENST00000525621.1	-	17	2868_2875	c.2387_2394delACAAGTGG	c.(2386-2394)gacaagtggfs	p.DKW796fs	TYK2_ENST00000529370.1_Frame_Shift_Del_p.DKW796fs|TYK2_ENST00000524462.1_Frame_Shift_Del_p.DKW611fs|TYK2_ENST00000264818.6_Frame_Shift_Del_p.DKW796fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	796	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CGCCAAACCCCCACTTGTCCATGGCGGT	0.654																																					p.796_799del		.											.	.	.	0			c.2388_2395del						.																																			SO:0001589	frameshift_variant	7297	exon17			AAACCCCCACTTG		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.2387_2394delACAAGTGG	19.37:g.10468512_10468519delCCACTTGT	ENSP00000431885:p.Asp796fs	100	0		86	12	NM_003331	Q6QB10|Q96CH0	Frame_Shift_Del	DEL	ENST00000525621.1	37	CCDS12236.1																																																																																			.		0.654	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			-	10468519	CCACTTGT	-	10468512	7	5	31	1	0	1	0	1	0	0	0	0	16859	624	22	0	1205	0	TYK2	19	10468512	Frame_Shift_Del	DEL	CCACTTGT	TCGA-ZH-A8Y4-01A-11D-A417-09	599138	10468512	48660471	120	4954											
RASAL3	64926	hgsc.bcm.edu	37	19	15572380	15572380	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:15572380G>T	ENST00000343625.7	-	3	452	c.367C>A	c.(367-369)Cag>Aag	p.Q123K		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	123	Pro-rich.				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						TCAGGGATCTGTGGGGTAGGG	0.617																																					p.Q123K		.											RASAL3,NS,carcinoma,0,1	RASAL3	0	0			c.C367A						.						10	13	12					19																	15572380		1924	4117	6041	SO:0001583	missense	64926	exon3			GGATCTGTGGGGT		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.367C>A	19.37:g.15572380G>T	ENSP00000341905:p.Gln123Lys	50	0		40	3	NM_022904	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	7.144	0.582314	0.13749	.	.	ENSG00000105122	ENST00000343625	T	0.24151	1.87	3.99	2.83	0.33086	.	0.778678	0.10033	U	0.724488	T	0.20170	0.0485	L	0.57536	1.79	0.23550	N	0.997437	B	0.25667	0.131	B	0.19946	0.027	T	0.42241	-0.9463	10	0.02654	T	1	.	8.1208	0.30969	0.0:0.0:0.7599:0.2401	.	123	Q86YV0	RASL3_HUMAN	K	123	ENSP00000341905:Q123K	ENSP00000341905:Q123K	Q	-	1	0	RASAL3	15433380	0.946000	0.32159	0.894000	0.35097	0.020000	0.10135	1.343000	0.33930	2.162000	0.67917	0.462000	0.41574	CAG	.		0.617	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		T	15572380	G	T	15572380	3	4	31	1	0	0	0	0	1	0	0	0	13110	1386	48	3	2732	3	RASAL3	19	15572380	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	5103868	15572380	43556603	121	4955											
COMP	1311	bcgsc.ca	37	19	18901408	18901408	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:18901408C>T	ENST00000222271.2	-	3	224	c.180G>A	c.(178-180)acG>acA	p.T60T	COMP_ENST00000425807.1_Silent_p.T60T|COMP_ENST00000542601.2_Silent_p.T27T	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	60	COMP N-terminal.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTTTCAGGAACGTGATCTCCC	0.622																																					p.T60T													.	COMP	62	0			c.G180A						.						186	195	192					19																	18901408		2203	4300	6503	SO:0001819	synonymous_variant	1311	exon3			CAGGAACGTGATC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.180G>A	19.37:g.18901408C>T		51	0		51	4	NM_000095	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	CCDS12385.1																																																																																			.		0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		T	18901408	C	T	18901408	2	4	31	1	0	0	0	0	0	0	0	1	3731	523	19	1		1	COMP	19	18901408	Silent	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	3329028	18901408	40227575	122	4956											
DPY19L3	147991	hgsc.bcm.edu	37	19	32968452	32968452	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:32968452G>A	ENST00000342179.5	+	17	1937	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	DPY19L3_ENST00000586987.1_Silent_p.V574V|DPY19L3_ENST00000392250.2_Silent_p.V574V	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	574						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)					GAAAGGCTGTGTTTGCGGGAA	0.478																																					p.V574V		.											.	.	.	0			c.G1722A						.						106	97	100					19																	32968452		2203	4300	6503	SO:0001819	synonymous_variant	147991	exon17			GGCTGTGTTTGCG		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.1722G>A	19.37:g.32968452G>A		90	0		99	4	NM_001172774	Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	CCDS12422.1																																																																																			.		0.478	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		A	32968452	G	A	32968452	2	1	31	1	0	0	0	0	0	0	0	1	4756	1364	48	3		3	DPY19L3	19	32968452	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	14067044	32968452	26160531	123	4957											
KIAA0355	9710	hgsc.bcm.edu;bcgsc.ca	37	19	34832636	34832636	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:34832636G>T	ENST00000299505.6	+	10	2670	c.1797G>T	c.(1795-1797)agG>agT	p.R599S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	599										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)					ATTTCCCCAGGACTACAGACC	0.448																																					p.R599S		.											.	.	.	0			c.G1797T						.						66	66	66					19																	34832636		2203	4300	6503	SO:0001583	missense	9710	exon10			CCCCAGGACTACA		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.1797G>T	19.37:g.34832636G>T	ENSP00000299505:p.Arg599Ser	60	0		65	4	NM_014686	Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820293	0.50633	.	.	ENSG00000166398	ENST00000299505	T	0.24350	1.86	5.43	4.38	0.52667	.	0.254953	0.43919	D	0.000511	T	0.34250	0.0891	N	0.24115	0.695	0.49213	D	0.999763	D	0.57899	0.981	D	0.69142	0.962	T	0.16247	-1.0409	10	0.87932	D	0	-16.9448	11.6544	0.51309	0.0913:0.0:0.9087:0.0	.	599	O15063	K0355_HUMAN	S	599	ENSP00000299505:R599S	ENSP00000299505:R599S	R	+	3	2	KIAA0355	39524476	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.549000	0.53681	1.330000	0.45394	0.655000	0.94253	AGG	.		0.448	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		T	34832636	G	T	34832636	3	4	31	1	0	0	0	0	1	0	0	0	8197	1165	41	3	1831	3	KIAA0355	19	34832636	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	1864184	34832636	24296347	124	4958											
WTIP	126374	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	34981373	34981373	+	Missense_Mutation	SNP	G	G	T	rs373500546		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:34981373G>T	ENST00000590071.2	+	2	1097	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	WTIP_ENST00000270288.6_Missense_Mutation_p.D478Y	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	254	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTTCACCTGCGACTCGTGTGG	0.582																																					p.D254Y		.											.	.	.	0			c.G760T						.						103	101	102					19																	34981373		2114	4236	6350	SO:0001583	missense	126374	exon2			ACCTGCGACTCGT	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.760G>T	19.37:g.34981373G>T	ENSP00000466953:p.Asp254Tyr	38	0		46	5	NM_001080436		Missense_Mutation	SNP	ENST00000590071.2	37	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	1.314	-0.601442	0.03744	.	.	ENSG00000142279	ENST00000270288	D	0.87412	-2.25	5.14	2.89	0.33648	Zinc finger, LIM-type (4);	0.237540	0.44097	D	0.000489	T	0.68568	0.3015	N	0.11201	0.11	0.32263	N	0.569858	P	0.35208	0.49	B	0.39094	0.29	T	0.69075	-0.5241	10	0.02654	T	1	.	3.864	0.09008	0.2008:0.0:0.5166:0.2825	.	478	A6NIX2	WTIP_HUMAN	Y	478	ENSP00000270288:D478Y	ENSP00000270288:D478Y	D	+	1	0	WTIP	39673213	0.996000	0.38824	0.924000	0.36721	0.181000	0.23173	2.512000	0.45485	1.370000	0.46153	0.561000	0.74099	GAC	.		0.582	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		T	34981373	G	T	34981373	3	4	31	1	0	0	0	0	1	0	0	0	17459	1058	37	2	766	2	WTIP	19	34981373	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	148737	34981373	24147610	125	4959											
RBM42	79171	hgsc.bcm.edu;bcgsc.ca	37	19	36123879	36123879	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:36123879G>T	ENST00000262633.4	+	5	589	c.484G>T	c.(484-486)Gtc>Ttc	p.V162F	RBM42_ENST00000592202.1_Intron|RBM42_ENST00000589871.1_Intron|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000588161.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	162						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)			TCCAGCCTTCGTCCCCCACGT	0.637																																					p.V162F		.											.	.	.	0			c.G484T						.						113	122	119					19																	36123879		2203	4300	6503	SO:0001583	missense	79171	exon5			GCCTTCGTCCCCC	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.484G>T	19.37:g.36123879G>T	ENSP00000262633:p.Val162Phe	42	0		56	4	NM_024321	O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466150	0.63625	.	.	ENSG00000126254	ENST00000262633	T	0.10099	2.91	5.18	0.704	0.18121	.	0.199899	0.43416	D	0.000571	T	0.07234	0.0183	L	0.34521	1.04	0.80722	D	1	B	0.34290	0.447	B	0.30572	0.117	T	0.29366	-1.0014	10	0.59425	D	0.04	-5.7983	7.7043	0.28640	0.421:0.0:0.579:0.0	.	162	Q9BTD8	RBM42_HUMAN	F	162	ENSP00000262633:V162F	ENSP00000262633:V162F	V	+	1	0	RBM42	40815719	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	0.836000	0.27545	0.087000	0.17167	-0.812000	0.03155	GTC	.		0.637	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		T	36123879	G	T	36123879	3	4	31	1	0	0	0	0	1	0	0	0	13181	1145	40	2	502	2	RBM42	19	36123879	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	1142506	36123879	23005104	126	4960											
PLEKHG2	64857	hgsc.bcm.edu;bcgsc.ca	37	19	39914272	39914272	+	Missense_Mutation	SNP	C	C	T	rs550247261		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:39914272C>T	ENST00000409794.3	+	18	3428	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P831S|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P801S|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	860					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)			CCCCTGTCTGCCCCAGGAGCA	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		15276	0		0	False		,,,				2504	0				p.P860S		.											.	.	.	0			c.C2578T						.						28	27	28					19																	39914272		2200	4298	6498	SO:0001583	missense	64857	exon18			TGTCTGCCCCAGG	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.2578C>T	19.37:g.39914272C>T	ENSP00000386733:p.Pro860Ser	80	0		67	4	NM_022835	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342943	0.24339	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.73152	-0.57;-0.63;-0.72	5.7	0.79	0.18613	.	1.001210	0.08058	N	0.997737	T	0.51432	0.1674	N	0.20986	0.625	0.09310	N	0.999999	B;B;B	0.27882	0.181;0.02;0.192	B;B;B	0.26770	0.073;0.014;0.048	T	0.41251	-0.9519	10	0.45353	T	0.12	.	2.0098	0.03485	0.1946:0.4984:0.1391:0.1679	.	831;860;801	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	S	860;831;801	ENSP00000386733:P860S;ENSP00000392906:P831S;ENSP00000408857:P801S	ENSP00000386733:P860S	P	+	1	0	PLEKHG2	44606112	0.000000	0.05858	0.012000	0.15200	0.581000	0.36288	0.401000	0.20948	-0.021000	0.14009	-0.150000	0.13652	CCC	.		0.672	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		T	39914272	C	T	39914272	3	4	31	1	0	0	0	0	1	0	0	0	12108	739	26	3	2644	3	PLEKHG2	19	39914272	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	3790393	39914272	19214711	127	4961											
ZNF780B	163131	hgsc.bcm.edu	37	19	40540576	40540576	+	Silent	SNP	G	G	A	rs376431224		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:40540576G>A	ENST00000434248.1	-	5	2255	c.2190C>T	c.(2188-2190)tgC>tgT	p.C730C	ZNF780B_ENST00000221355.6_Silent_p.C582C	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	730					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)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGCCTTTCCGCATTCTTTAC	0.403																																					p.C730C		.											ZNF780B_ENST00000434248,NS,carcinoma,0,2	ZNF780B_ENST00000434248	0	0			c.C2190T						.	G		1,4391	2.1+/-5.4	0,1,2195	57	62	60		2190	1.4	0.2	19		60	0,8594		0,0,4297	no	coding-synonymous	ZNF780B	NM_001005851.2		0,1,6492	AA,AG,GG		0.0,0.0228,0.0077		730/834	40540576	1,12985	2196	4297	6493	SO:0001819	synonymous_variant	163131	exon5			CTTTCCGCATTCT	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2190C>T	19.37:g.40540576G>A		66	0		63	3	NM_001005851	B9EH00	Silent	SNP	ENST00000434248.1	37	CCDS46077.1																																																																																			.		0.403	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		A	40540576	G	A	40540576	2	1	31	1	0	0	0	0	0	0	0	1	18201	1079	38	1		1	ZNF780B	19	40540576	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	626304	40540576	18588407	128	4962											
ZNF234	10780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	44660536	44660536	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:44660536C>T	ENST00000426739.2	+	6	625	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	ZNF234_ENST00000592437.1_Missense_Mutation_p.R123W	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	123	KRNB.				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)				AAGTATTTCTCGGTTCCCCAG	0.413																																					p.R123W		.											.	.	.	0			c.C367T						.						57	59	58					19																	44660536		1957	4159	6116	SO:0001583	missense	10780	exon6			ATTTCTCGGTTCC	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.367C>T	19.37:g.44660536C>T	ENSP00000400878:p.Arg123Trp	72	0		73	24	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459553	0.26248	.	.	ENSG00000167380	ENST00000426739	T	0.05786	3.39	3.12	-0.302	0.12796	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	P	0.35107	0.484	B	0.15870	0.014	T	0.42531	-0.9446	9	0.72032	D	0.01	.	4.7632	0.13118	0.0:0.5761:0.1935:0.2304	.	123	Q14588	ZN234_HUMAN	W	123	ENSP00000400878:R123W	ENSP00000400878:R123W	R	+	1	2	ZNF226	49352376	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	0.337000	0.19841	0.031000	0.15407	0.591000	0.81541	CGG	.		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			T	44660536	C	T	44660536	3	4	31	1	0	0	0	0	1	0	0	0	17835	875	31	1	381	1	ZNF234	19	44660536	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	4119960	44660536	14468447	129	4963											
ZSCAN1	284312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	58549386	58549386	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr19:58549386C>T	ENST00000282326.1	+	3	429	c.182C>T	c.(181-183)aCg>aTg	p.T61M	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.T61M|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.T61M	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	61	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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGCTCTGGACGCTGTGCCGC	0.701																																					p.T61M		.											.	.	.	0			c.C182T						.						14	15	15					19																	58549386		2176	4268	6444	SO:0001583	missense	284312	exon3			TCTGGACGCTGTG	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.182C>T	19.37:g.58549386C>T	ENSP00000282326:p.Thr61Met	45	0		39	8	NM_182572	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	9.015	0.983446	0.18889	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.05717	3.4;3.4	2.09	-4.19	0.03835	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	P;P	0.38745	0.513;0.645	B;B	0.26614	0.069;0.071	T	0.42224	-0.9464	9	0.45353	T	0.12	.	3.1285	0.06415	0.5591:0.2397:0.0:0.2011	.	61;61	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	M	61	ENSP00000375581:T61M;ENSP00000282326:T61M	ENSP00000282326:T61M	T	+	2	0	ZSCAN1	63241198	0.008000	0.16893	0.013000	0.15412	0.063000	0.16089	-0.239000	0.08965	-0.937000	0.03719	0.407000	0.27541	ACG	.		0.701	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58549386	C	T	58549386	3	4	31	1	0	0	0	0	1	0	0	0	18274	536	19	1	184	1	ZSCAN1	19	58549386	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	13888850	58549386	579597	130	4964											
FOXS1	2307	hgsc.bcm.edu	37	20	30433234	30433234	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr20:30433234G>A	ENST00000375978.3	-	1	186	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	38					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						AGGGTGGCCCGCTGCCCCGGT	0.647																																					p.R38W		.											.	.	.	0			c.C112T						.						60	57	58					20																	30433234		2203	4300	6503	SO:0001583	missense	2307	exon1			TGGCCCGCTGCCC	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.112C>T	20.37:g.30433234G>A	ENSP00000365145:p.Arg38Trp	123	0		95	4	NM_004118	Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684671	0.68157	.	.	ENSG00000179772	ENST00000375978	D	0.95885	-3.84	4.51	2.32	0.28847	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.39615	N	0.001317	D	0.98086	0.9369	H	0.95816	3.725	0.49051	D	0.99974	D	0.89917	1.0	D	0.85130	0.997	D	0.98231	1.0483	10	0.87932	D	0	.	11.4611	0.50211	0.0:0.0:0.5796:0.4204	.	38	O43638	FOXS1_HUMAN	W	38	ENSP00000365145:R38W	ENSP00000365145:R38W	R	-	1	2	FOXS1	29896895	0.954000	0.32549	1.000000	0.80357	0.930000	0.56654	1.241000	0.32743	1.072000	0.40860	0.555000	0.69702	CGG	.		0.647	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		A	30433234	G	A	30433234	3	1	31	1	0	0	0	0	1	0	0	0	6059	1086	38	1	884	1	FOXS1	20	30433234	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		30433234	32592286	131	4965											
CTCFL	140690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	56099137	56099137	+	Missense_Mutation	SNP	C	C	T	rs572527047		TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr20:56099137C>T	ENST00000608263.1	-	1	786	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	CTCFL_ENST00000608158.1_Missense_Mutation_p.R42Q|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.R42Q|CTCFL_ENST00000609232.1_Missense_Mutation_p.R42Q|CTCFL_ENST00000422869.2_Missense_Mutation_p.R42Q|CTCFL_ENST00000432255.2_Missense_Mutation_p.R42Q|CTCFL_ENST00000481655.2_Missense_Mutation_p.R42Q|CTCFL_ENST00000371196.2_Missense_Mutation_p.R42Q|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608440.1_Missense_Mutation_p.R42Q|CTCFL_ENST00000423479.3_Missense_Mutation_p.R42Q|CTCFL_ENST00000429804.3_Missense_Mutation_p.R42Q|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608425.1_Missense_Mutation_p.R42Q	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	42					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)			ACTAGGGCTCCGATGGTCTTT	0.567													C|||	1	0.000199681	0	0	5008	,	,		19262	0		0	False		,,,				2504	0.001				p.R42Q		.											.	.	.	0			c.G125A						.						193	211	205					20																	56099137		2203	4300	6503	SO:0001583	missense	140690	exon1			GGGCTCCGATGGT		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.125G>A	20.37:g.56099137C>T	ENSP00000476783:p.Arg42Gln	44	0		33	9	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	.	.	.	.	.	.	.	.	.	.	C	7.221	0.597317	0.13875	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.09073	3.02;3.05;3.05;3.24;3.07;3.41;3.08;3.72;3.07	3.81	-7.41	0.01392	.	3.940590	0.00725	N	0.000911	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.13145	0.0;0.0;0.001;0.007;0.001;0.003;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.001;0.0;0.0	T	0.37798	-0.9690	10	0.11485	T	0.65	0.5628	1.718	0.02905	0.2202:0.1213:0.135:0.5235	.	42;42;42;42;42;42;42;42	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	Q	42	ENSP00000415579:R42Q;ENSP00000243914:R42Q;ENSP00000360239:R42Q;ENSP00000415329:R42Q;ENSP00000392034:R42Q;ENSP00000413713:R42Q;ENSP00000403369:R42Q;ENSP00000409344:R42Q;ENSP00000399061:R42Q	ENSP00000243914:R42Q	R	-	2	0	CTCFL	55532543	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.911000	0.01583	-1.226000	0.02574	-0.742000	0.03525	CGG	.		0.567	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		T	56099137	C	T	56099137	3	4	31	1	0	0	0	0	1	0	0	0	4010	652	23	1	1906	1	CTCFL	20	56099137	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	25665903	56099137	6926383	132	4966											
SIM2	6493	hgsc.bcm.edu	37	21	38114120	38114120	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr21:38114120G>A	ENST00000290399.6	+	8	1566	c.953G>A	c.(952-954)cGc>cAc	p.R318H	SIM2_ENST00000430056.3_Missense_Mutation_p.R318H	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	318	PAC.				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						CACAACAGCCGCTCGTCCCGG	0.572																																					p.R318H		.											SIM2_ENST00000430056,NS,carcinoma,0,2	SIM2_ENST00000430056	0	0			c.G953A						.						52	43	46					21																	38114120		2202	4299	6501	SO:0001583	missense	6493	exon8			ACAGCCGCTCGTC		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.953G>A	21.37:g.38114120G>A	ENSP00000290399:p.Arg318His	76	0		44	2	NM_005069	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276996	0.95459	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.17213	2.29;2.29	5.15	5.15	0.70609	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.987	T	0.54721	-0.8251	10	0.87932	D	0	.	18.6253	0.91334	0.0:0.0:1.0:0.0	.	318;318	Q14190;Q14190-2	SIM2_HUMAN;.	H	318	ENSP00000290399:R318H;ENSP00000404176:R318H	ENSP00000290399:R318H	R	+	2	0	SIM2	37035990	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.563000	0.98148	2.369000	0.80426	0.655000	0.94253	CGC	.		0.572	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		A	38114120	G	A	38114120	3	1	31	1	0	0	0	0	1	0	0	0	14369	1087	38	1	983	1	SIM2	21	38114120	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		38114120	10015775	133	4967											
NF2	4771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	30054251	30054251	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr22:30054251C>T	ENST00000338641.4	+	7	1114	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	NF2_ENST00000361452.4_Missense_Mutation_p.R184W|NF2_ENST00000361166.4_Missense_Mutation_p.R225W|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.R142W|NF2_ENST00000403435.1_Missense_Mutation_p.R225W|NF2_ENST00000403999.3_Missense_Mutation_p.R225W|NF2_ENST00000361676.4_Missense_Mutation_p.R183W|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.R225W|NF2_ENST00000334961.7_Missense_Mutation_p.R142W	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	225	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)|p.L208fs*26(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTTTGCAATCCGGGTGTGTTG	0.478			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																												p.R225W		.	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.,1	.	1312	5	Unknown(4)|Deletion - Frameshift(1)	soft_tissue(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	c.C673T	GRCh37	CD045503	NF2	D		.						187	146	160					22																	30054251		2203	4300	6503	SO:0001583	missense	4771	exon7	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	GCAATCCGGGTGT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.673C>T	22.37:g.30054251C>T	ENSP00000344666:p.Arg225Trp	72	0		52	5	NM_000268	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482771	0.63962	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.75	3.52	0.40303	FERM domain (1);Pleckstrin homology-type (1);	0.050106	0.85682	D	0.000000	D	0.86062	0.5843	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;0.999;0.999;1.0;0.999	P;P;P;P;D;P	0.66351	0.827;0.574;0.755;0.899;0.943;0.791	D	0.84854	0.0815	9	.	.	.	.	11.132	0.48351	0.2635:0.6207:0.1158:0.0	.	184;225;225;183;142;225	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	W	225;225;184;225;225;142;142;225;183;225	ENSP00000344666:R225W;ENSP00000384029:R225W;ENSP00000354897:R184W;ENSP00000384797:R225W;ENSP00000335652:R142W;ENSP00000340626:R142W;ENSP00000380891:R225W;ENSP00000355183:R183W;ENSP00000354529:R225W	.	R	+	1	2	NF2	28384251	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.528000	0.35985	1.396000	0.46663	0.563000	0.77884	CGG	.		0.478	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		T	30054251	C	T	30054251	3	4	31	1	0	0	0	0	1	0	0	0	10396	643	23	1	699	1	NF2	22	30054251	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09		30054251	21250315	134	4968											
CARD10	29775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	37900277	37900277	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr22:37900277T>C	ENST00000403299.1	-	10	1766	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	CARD10_ENST00000251973.5_Missense_Mutation_p.N517S|CARD10_ENST00000406271.3_Missense_Mutation_p.N231S			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	517					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)					GGAGAGCCGATTGATCTCCTT	0.642																																					p.N517S		.											.	.	.	0			c.A1550G						.						60	56	57					22																	37900277		2188	4284	6472	SO:0001583	missense	29775	exon9			AGCCGATTGATCT	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.1550A>G	22.37:g.37900277T>C	ENSP00000384570:p.Asn517Ser	28	0		22	8	NM_014550	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751077	0.69533	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.71	5.71	0.89125	.	0.226025	0.44688	D	0.000436	T	0.29556	0.0737	L	0.51422	1.61	0.37789	D	0.927303	P;B	0.52316	0.952;0.291	B;B	0.40741	0.339;0.177	T	0.27839	-1.0062	10	0.02654	T	1	-44.7599	14.8725	0.70468	0.0:0.0:0.0:1.0	.	517;231	Q9BWT7;Q8NC81	CAR10_HUMAN;.	S	517;231;517;158	ENSP00000384570:N517S;ENSP00000385799:N231S;ENSP00000251973:N517S;ENSP00000416239:N158S	ENSP00000251973:N517S	N	-	2	0	CARD10	36230223	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.032000	0.64140	2.317000	0.78254	0.459000	0.35465	AAT	.		0.642	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		C	37900277	T	C	37900277	3	2	31	1	0	0	0	0	1	0	0	0	2651	1493	52	4	1596	4	CARD10	22	37900277	Missense_Mutation	SNP	T	TCGA-ZH-A8Y4-01A-11D-A417-09	7846026	37900277	13404289	135	4969											
SH3BP1	23616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	38049853	38049853	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr22:38049853G>A	ENST00000357436.4	+	17	1979	c.1666G>A	c.(1666-1668)Gcc>Acc	p.A556T	SH3BP1_ENST00000599616.1_Missense_Mutation_p.A492T|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	556					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)					GGAGACAGCTGCCCCAGTGGA	0.662																																					p.A556T		.											.	.	.	0			c.G1666A						.						37	38	37					22																	38049853		2200	4300	6500	SO:0001583	missense	23616	exon17			ACAGCTGCCCCAG		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.1666G>A	22.37:g.38049853G>A	ENSP00000350018:p.Ala556Thr	122	0		178	114	NM_018957	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	9.635	1.137372	0.21123	.	.	ENSG00000100092	ENST00000357436;ENST00000397014	T	0.16196	2.36	5.45	-1.57	0.08506	.	0.723885	0.12742	N	0.442969	T	0.07458	0.0188	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.15141	0.012;0.0;0.0;0.012	B;B;B;B	0.12156	0.007;0.001;0.001;0.007	T	0.41662	-0.9496	10	0.12766	T	0.61	.	5.0885	0.14696	0.4066:0.1424:0.451:0.0	.	470;492;556;470	E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;3BP1_HUMAN;.	T	556;470	ENSP00000350018:A556T	ENSP00000350018:A556T	A	+	1	0	SH3BP1	36379799	0.000000	0.05858	0.000000	0.03702	0.647000	0.38526	-0.127000	0.10547	-0.287000	0.09064	-0.137000	0.14449	GCC	.		0.662	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		A	38049853	G	A	38049853	3	1	31	1	0	0	0	0	1	0	0	0	14289	1319	46	3	1732	3	SH3BP1	22	38049853	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	149576	38049853	13254713	136	4970											
NOL12	79159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	38084863	38084863	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr22:38084863C>A	ENST00000359114.4	+	4	315	c.245C>A	c.(244-246)gCa>gAa	p.A82E	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	82						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					ACAGAGGAGGCAGATGAGCTG	0.622																																					p.A82E		.											.	.	.	0			c.C245A						.						151	123	133					22																	38084863		2203	4300	6503	SO:0001583	missense	79159	exon4			AGGAGGCAGATGA	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.245C>A	22.37:g.38084863C>A	ENSP00000352021:p.Ala82Glu	49	0		73	22	NM_024313		Missense_Mutation	SNP	ENST00000359114.4	37	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910003	0.52439	.	.	ENSG00000256872	ENST00000359114	D	0.83075	-1.68	5.58	4.56	0.56223	.	0.500492	0.23325	N	0.049419	T	0.73969	0.3655	L	0.40543	1.245	0.33691	D	0.613337	P	0.35551	0.509	B	0.35607	0.206	T	0.74881	-0.3513	10	0.15066	T	0.55	-0.5591	10.6891	0.45860	0.0:0.8479:0.0:0.1521	.	82	Q9UGY1	NOL12_HUMAN	E	82	ENSP00000352021:A82E	ENSP00000352021:A82E	A	+	2	0	Z83844.2	36414809	0.948000	0.32251	0.888000	0.34837	0.949000	0.60115	2.112000	0.41892	1.354000	0.45846	0.655000	0.94253	GCA	.		0.622	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		A	38084863	C	A	38084863	3	1	31	1	0	0	0	0	1	0	0	0	10561	710	25	3	259	3	NOL12	22	38084863	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	35010	38084863	13219703	137	4971											
CSDC2	27254	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	41970815	41970815	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr22:41970815G>T	ENST00000306149.7	+	4	922	c.378G>T	c.(376-378)aaG>aaT	p.K126N		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	126	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						AGAACCAGAAGTTCCAGGCCG	0.637																																					p.K126N	NSCLC(181;294 2110 12667 14717 31090)	.											.	.	.	0			c.G378T						.						92	65	74					22																	41970815		2203	4300	6503	SO:0001583	missense	27254	exon4			CCAGAAGTTCCAG	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.378G>T	22.37:g.41970815G>T	ENSP00000302485:p.Lys126Asn	68	0		56	4	NM_014460	Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	g	27.4	4.827392	0.90955	.	.	ENSG00000172346	ENST00000306149	.	.	.	5.02	5.02	0.67125	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.82874	-0.0241	9	0.72032	D	0.01	.	11.9414	0.52903	0.079:0.0:0.921:0.0	.	126	Q9Y534	CSDC2_HUMAN	N	126	.	ENSP00000302485:K126N	K	+	3	2	CSDC2	40300761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.635000	0.67841	2.604000	0.88044	0.651000	0.88453	AAG	.		0.637	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		T	41970815	G	T	41970815	3	4	31	1	0	0	0	0	1	0	0	0	3937	1020	36	3	388	3	CSDC2	22	41970815	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	3885952	41970815	9333751	138	4972											
CYP2D6	1565	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	42526688	42526688	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chr22:42526688C>A	ENST00000360608.5	-	1	220	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.G36C|CYP2D6_ENST00000359033.4_Missense_Mutation_p.G36C	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	36					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)	GGCAGGGGGCCTGGTGGGTAG	0.657																																					p.G36C													.	CYP2D6	104	0			c.G106T						.						45	36	39					22																	42526688		2195	4298	6493	SO:0001583	missense	1565	exon1			GGGGGCCTGGTGG	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.106G>T	22.37:g.42526688C>A	ENSP00000353820:p.Gly36Cys	60	0		66	12	NM_000106	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.512772	0.44660	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000359033;ENST00000542856	D;D;T	0.85484	-1.99;-1.99;4.45	3.46	3.46	0.39613	.	0.000000	0.64402	D	0.000008	D	0.92456	0.7605	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92603	0.6093	10	0.87932	D	0	.	8.6425	0.33985	0.0:0.8879:0.0:0.1121	.	36;36	Q6NXU8;Q6NWU0	.;.	C	36	ENSP00000353820:G36C;ENSP00000374620:G36C;ENSP00000351927:G36C	ENSP00000351927:G36C	G	-	1	0	CYP2D6	40856632	0.993000	0.37304	0.813000	0.32504	0.125000	0.20455	3.174000	0.50847	2.218000	0.71995	0.484000	0.47621	GGC	.		0.657	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			A	42526688	C	A	42526688	3	1	31	1	0	0	0	0	1	0	0	0	4178	681	24	3	1423	3	CYP2D6	22	42526688	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	555873	42526688	8777878	139	4973											
SMS	6611	hgsc.bcm.edu	37	X	21996164	21996164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chrX:21996164G>T	ENST00000404933.2	+	6	844	c.592G>T	c.(592-594)Gga>Tga	p.G198*	SMS_ENST00000415881.2_Nonsense_Mutation_p.G102*|SMS_ENST00000379404.1_Nonsense_Mutation_p.G145*	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	198	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ACTCATTCTGGGAGGTGGAGA	0.433																																					p.G198X		.											.	.	.	0			c.G592T						.						136	118	124					X																	21996164		2203	4300	6503	SO:0001587	stop_gained	6611	exon6			ATTCTGGGAGGTG	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.592G>T	X.37:g.21996164G>T	ENSP00000385746:p.Gly198*	55	0		71	3	NM_004595	A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Nonsense_Mutation	SNP	ENST00000404933.2	37	CCDS14203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.094491|3.094491	0.56075|0.56075	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000457085|ENST00000404933;ENST00000379404;ENST00000415881	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.77778|.	0.4181|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80065|.	-0.1538|.	4|.	.|0.66056	.|D	.|0.02	-22.1376|-22.1376	18.5981|18.5981	0.91236|0.91236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	289|198;145;102	.|.	.|ENSP00000368714:G145X	G|G	+|+	2|1	0|0	SMS|SMS	21906085|21906085	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.344000|0.344000	0.29017|0.29017	9.476000|9.476000	0.97823|0.97823	2.334000|2.334000	0.79466|0.79466	0.600000|0.600000	0.82982|0.82982	GGG|GGA	.		0.433	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		T	21996164	G	T	21996164	4	4	31	1	0	0	0	0	0	1	0	0	14858	1233	43	3	614	3	SMS	23	21996164	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09		21996164	133274396	140	4974											
ARAF	369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	47426127	47426127	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chrX:47426127C>T	ENST00000377045.4	+	7	841	c.647C>T	c.(646-648)cCc>cTc	p.P216L	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	216					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACGTCCACTCCCAACGTCCAT	0.662																																					p.P219L		.											.	.	.	0			c.C656T						.						76	61	66					X																	47426127		2203	4300	6503	SO:0001583	missense	369	exon7			CCACTCCCAACGT	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.647C>T	X.37:g.47426127C>T	ENSP00000366244:p.Pro216Leu	70	0		58	48	NM_001256196	P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037064	0.93630	.	.	ENSG00000078061	ENST00000377045	T	0.76186	-1.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.78456	2.415	0.80722	D	1	D;D	0.64830	0.992;0.994	P;D	0.71184	0.865;0.972	D	0.87731	0.2579	10	0.87932	D	0	.	15.4172	0.74980	0.0:1.0:0.0:0.0	.	216;82	P10398;B4DV85	ARAF_HUMAN;.	L	216	ENSP00000366244:P216L	ENSP00000366244:P216L	P	+	2	0	ARAF	47311071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.334000	0.79224	2.233000	0.73108	0.544000	0.68410	CCC	.		0.662	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			T	47426127	C	T	47426127	3	4	31	1	0	0	0	0	1	0	0	0	837	623	22	3	669	3	ARAF	23	47426127	Missense_Mutation	SNP	C	TCGA-ZH-A8Y4-01A-11D-A417-09	25429963	47426127	107844433	141	4975											
UPRT	139596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	74494297	74494297	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chrX:74494297G>A	ENST00000373383.4	+	1	375	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	UPRT_ENST00000373379.1_Missense_Mutation_p.G70S|UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000530743.1_5'Flank	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	70					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TGGGGCCTGCGGCGGCTCCAG	0.627																																					p.G70S		.											.	.	.	0			c.G208A						.						25	23	24					X																	74494297		2202	4289	6491	SO:0001583	missense	139596	exon1			GCCTGCGGCGGCT	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.208G>A	X.37:g.74494297G>A	ENSP00000362481:p.Gly70Ser	26	0		24	22	NM_145052	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833750	0.16820	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	5.14	-0.174	0.13319	.	0.783386	0.12136	N	0.496325	T	0.13243	0.0321	N	0.12182	0.205	0.09310	N	0.999995	B;B;B	0.27117	0.168;0.028;0.028	B;B;B	0.17979	0.02;0.011;0.007	T	0.27262	-1.0079	9	0.06757	T	0.87	-19.1505	3.3365	0.07103	0.3892:0.0:0.2777:0.3331	.	70;70;70	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	S	70	.	ENSP00000362471:G70S	G	+	1	0	UPRT	74411022	0.078000	0.21339	0.000000	0.03702	0.022000	0.10575	0.309000	0.19332	-0.410000	0.07542	0.600000	0.82982	GGC	.		0.627	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		A	74494297	G	A	74494297	3	1	31	1	0	0	0	0	1	0	0	0	17063	1116	39	1	210	1	UPRT	23	74494297	Missense_Mutation	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	27068170	74494297	80776263	142	4976											
LRCH2	57631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	114357150	114357150	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chrX:114357150T>C	ENST00000317135.8	-	20	2148	c.2118A>G	c.(2116-2118)gcA>gcG	p.A706A	LRCH2_ENST00000538422.1_Silent_p.A689A	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	706	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTCGACATTTTGCCATGCTCA	0.328																																					p.A706A		.											.	.	.	0			c.A2118G						.						88	75	79					X																	114357150		1813	4077	5890	SO:0001819	synonymous_variant	57631	exon20			ACATTTTGCCATG	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2118A>G	X.37:g.114357150T>C		110	0		97	34	NM_020871	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	ENST00000317135.8	37	CCDS48155.1																																																																																			.		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		C	114357150	T	C	114357150	2	2	31	1	0	0	0	0	0	0	0	1	8968	1799	63	4		4	LRCH2	23	114357150	Silent	SNP	T	TCGA-ZH-A8Y4-01A-11D-A417-09	39862853	114357150	40913410	143	4977											
PNCK	139728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	152936621	152936621	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y4-01A-11D-A417-09	TCGA-ZH-A8Y4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7c0d8315-be09-4965-8cf6-0659b15116af	88264350-4923-47c7-a831-5715420c907f	g.chrX:152936621G>A	ENST00000370150.1	-	8	817	c.639C>T	c.(637-639)taC>taT	p.Y213Y	PNCK_ENST00000393831.2_Silent_p.Y236Y|PNCK_ENST00000370145.4_Silent_p.Y230Y|PNCK_ENST00000370142.1_Silent_p.Y236Y|PNCK_ENST00000340888.3_Silent_p.Y213Y|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000447676.2_Silent_p.Y296Y			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCTCGTCGTAGAAGGGGG	0.592													G|||	1	0.000264901	0	0.0014	3775	,	,		12507	0		0	False		,,,				2504	0				p.Y296Y		.											.	.	.	0			c.C888T						.						55	55	55					X																	152936621		2203	4300	6503	SO:0001819	synonymous_variant	139728	exon8			CTCGTCGTAGAAG	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.639C>T	X.37:g.152936621G>A		31	0		31	7	NM_001039582	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37																																																																																				.		0.592	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		A	152936621	G	A	152936621	2	1	31	1	0	0	0	0	0	0	0	1	12184	1140	40	1		1	PNCK	23	152936621	Silent	SNP	G	TCGA-ZH-A8Y4-01A-11D-A417-09	38579471	152936621	2333939	144	4978											
RPAP2	79871	bcgsc.ca	37	1	92789386	92789386	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr1:92789386C>A	ENST00000610020.1	+	8	1018	c.909C>A	c.(907-909)agC>agA	p.S303R	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	303					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTTCAAATAGCACTTTGCCTG	0.363																																					p.S303R													.	RPAP2	48	0			c.C909A						.						71	78	76					1																	92789386		2203	4299	6502	SO:0001583	missense	79871	exon8			AAATAGCACTTTG	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.909C>A	1.37:g.92789386C>A	ENSP00000476948:p.Ser303Arg	53	0		20	3	NM_024813	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	C	2.944	-0.218339	0.06101	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	6.07	0.915	0.19366	.	1.003210	0.08019	N	0.991606	T	0.15869	0.0382	L	0.51422	1.61	0.23421	N	0.997719	B	0.06786	0.001	B	0.04013	0.001	T	0.19192	-1.0313	8	0.13470	T	0.59	-0.3716	5.6038	0.17369	0.0:0.2114:0.1323:0.6563	.	303	Q8IXW5	RPAP2_HUMAN	R	303	.	ENSP00000359368:S303R	S	+	3	2	RPAP2	92561974	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.189000	0.17037	-0.048000	0.13401	-0.290000	0.09829	AGC	.		0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		A	92789386	C	A	92789386	3	1	32	1	0	0	0	0	1	0	0	0	13587	709	25	3	939	3	RPAP2	1	92789386	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		92789386	156461235	1	4979											
KCNN3	3782	hgsc.bcm.edu	37	1	154842333	154842333	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr1:154842333C>T	ENST00000271915.4	-	1	423	c.108G>A	c.(106-108)caG>caA	p.Q36Q	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	36	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)	gctgctgttgctgctgctgct	0.672																																					p.Q36Q		.											.	.	.	0			c.G108A						.						8	8	8					1																	154842333		1967	3874	5841	SO:0001819	synonymous_variant	3782	exon1			CTGTTGCTGCTGC	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.108G>A	1.37:g.154842333C>T		32	0		90	4	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.672	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842333	C	T	154842333	2	4	32	1	0	0	0	0	0	0	0	1	8107	796	28	3		3	KCNN3	1	154842333	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	62052947	154842333	94408288	2	4980											
C1orf92	149499	broad.mit.edu	37	1	156893876	156893876	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr1:156893876delA	ENST00000337428.7	+	2	450	c.296delA	c.(295-297)gaafs	p.E99fs	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	99										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TCTTTGTCGGAAAAGGCCACC	0.672																																					p.E99fs													.	LRRC71	33	0			c.296delA						.						6	7	6					1																	156893876		674	1573	2247	SO:0001589	frameshift_variant	149499	exon2			TGTCGGAAAAGGC	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.296delA	1.37:g.156893876delA	ENSP00000336661:p.Glu99fs	47	0		187	6	NM_144702	Q96M24	Frame_Shift_Del	DEL	ENST00000337428.7	37	CCDS44249.1																																																																																			.		0.672	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		-	156893876	A	-	156893876	7	5	32	1	0	1	0	1	0	0	0	0	2076	246	9	0	302	0	C1orf92	1	156893876	Frame_Shift_Del	DEL	A	TCGA-ZH-A8Y5-01A-11D-A417-09	2051543	156893876	92356745	3	4981											
MAPKAPK2	9261	hgsc.bcm.edu	37	1	206858675	206858675	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr1:206858675A>C	ENST00000367103.3	+	1	294	c.101A>C	c.(100-102)cAg>cCg	p.Q34P	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.Q34P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	34	Pro-rich.				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)			cccccggcgcagccgccgccg	0.726																																					p.Q34P		.											.,2	.	45	0			c.A101C						.						6	7	6					1																	206858675		2149	4215	6364	SO:0001583	missense	9261	exon1			CGGCGCAGCCGCC	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.101A>C	1.37:g.206858675A>C	ENSP00000356070:p.Gln34Pro	12	0		21	2	NM_004759	Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	A	9.674	1.147563	0.21288	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.69040	-0.35;-0.37	2.61	-5.21	0.02815	.	.	.	.	.	T	0.36386	0.0965	N	0.08118	0	0.25438	N	0.98813	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14035	-1.0487	9	0.27785	T	0.31	-0.0185	4.2261	0.10580	0.4405:0.334:0.2255:0.0	.	34;34	P49137;P49137-2	MAPK2_HUMAN;.	P	34	ENSP00000294981:Q34P;ENSP00000356070:Q34P	ENSP00000294981:Q34P	Q	+	2	0	MAPKAPK2	204925298	0.198000	0.23374	0.009000	0.14445	0.658000	0.38924	-0.918000	0.04021	-0.751000	0.04734	0.155000	0.16302	CAG	.		0.726	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		C	206858675	A	C	206858675	3	2	32	1	0	0	0	0	1	0	0	0	9327	188	7	4	103	4	MAPKAPK2	1	206858675	Missense_Mutation	SNP	A	TCGA-ZH-A8Y5-01A-11D-A417-09	49964799	206858675	42391946	4	4982											
CENPF	1063	hgsc.bcm.edu;bcgsc.ca	37	1	214818019	214818019	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr1:214818019C>A	ENST00000366955.3	+	13	5274	c.5106C>A	c.(5104-5106)ctC>ctA	p.L1702L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1798					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)		AGCAGGACCTCAATCTAGACA	0.438																																					p.L1702L	Colon(80;575 1284 11000 14801 43496)	.											CENPF,right_lower_lobe,carcinoma,0,1	CENPF	0	0			c.C5106A						.						73	71	71					1																	214818019		2203	4300	6503	SO:0001819	synonymous_variant	1063	exon13			GGACCTCAATCTA	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.5106C>A	1.37:g.214818019C>A		41	0		88	4	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																			.		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214818019	C	A	214818019	2	1	32	1	0	0	0	0	0	0	0	1	3238	813	29	3		3	CENPF	1	214818019	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	7959344	214818019	34432602	5	4983											
USH2A	7399	hgsc.bcm.edu	37	1	216591858	216591858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr1:216591858G>A	ENST00000307340.3	-	3	1035	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q217*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q217*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	217					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)		TTACTCACCTGCACACTAAGA	0.343										HNSCC(13;0.011)																											p.Q217X		.											.	.	.	0			c.C649T						.						84	85	85					1																	216591858		2203	4300	6503	SO:0001587	stop_gained	7399	exon3			TCACCTGCACACT	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.649C>T	1.37:g.216591858G>A	ENSP00000305941:p.Gln217*	51	0		92	4	NM_007123	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	42	9.559731	0.99205	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.62	5.62	0.85841	.	0.000000	0.40554	U	0.001073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6478	0.95789	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000305941:Q217X	Q	-	1	0	USH2A	214658481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.638000	0.89438	0.655000	0.94253	CAG	.		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216591858	G	A	216591858	4	1	32	1	0	0	0	0	0	1	0	0	17085	1328	46	3	15253	3	USH2A	1	216591858	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	1773839	216591858	32658763	6	4984											
ACTN2	88	hgsc.bcm.edu	37	1	236882229	236882229	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr1:236882229C>T	ENST00000366578.4	+	3	443	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R93W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	93	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			GGGAAAAATGCGGTTCCACAA	0.483																																					p.R93W		.											.	.	.	0			c.C277T						.						128	123	124					1																	236882229		2203	4300	6503	SO:0001583	missense	88	exon3			AAAATGCGGTTCC	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.277C>T	1.37:g.236882229C>T	ENSP00000355537:p.Arg93Trp	51	0		87	4	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705444	0.89018	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.64260	-0.09;-0.09	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.91745	0.5407	10	0.87932	D	0	.	18.6602	0.91469	0.0:1.0:0.0:0.0	.	93;93	B2RCS5;P35609	.;ACTN2_HUMAN	W	93	ENSP00000443495:R93W;ENSP00000355537:R93W	ENSP00000355537:R93W	R	+	1	2	ACTN2	234948852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	2.775000	0.95449	0.655000	0.94253	CGG	.		0.483	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236882229	C	T	236882229	3	4	32	1	0	0	0	0	1	0	0	0	205	759	27	1	287	1	ACTN2	1	236882229	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	20290371	236882229	12368392	7	4985											
CLIP4	79745	hgsc.bcm.edu	37	2	29404628	29404628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr2:29404628G>T	ENST00000320081.5	+	16	2242	c.1987G>T	c.(1987-1989)Gga>Tga	p.G663*	CLIP4_ENST00000404424.1_Nonsense_Mutation_p.G663*|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	663	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAGCGCCAAGGGAAAAAATGA	0.517																																					p.G663X		.											.	.	.	0			c.G1987T						.						118	115	116					2																	29404628		2203	4300	6503	SO:0001587	stop_gained	79745	exon16			GCCAAGGGAAAAA	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.1987G>T	2.37:g.29404628G>T	ENSP00000327009:p.Gly663*	38	0		20	3	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Nonsense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	41	8.678303	0.98912	.	.	ENSG00000115295	ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	.	.	.	5.69	5.69	0.88448	.	0.054730	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	.	.	.	X	663;665;663;681;623	.	.	G	+	1	0	CLIP4	29258132	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.582000	0.98214	2.700000	0.92200	0.561000	0.74099	GGA	.		0.517	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		T	29404628	G	T	29404628	4	4	32	1	0	0	0	0	0	1	0	0	3542	1233	43	3	2045	3	CLIP4	2	29404628	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		29404628	213794745	8	4986											
SESTD1	91404	hgsc.bcm.edu;bcgsc.ca	37	2	180016103	180016103	+	Missense_Mutation	SNP	C	C	T	rs377062896		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr2:180016103C>T	ENST00000428443.3	-	6	701	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	129	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						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)			AATTTGTTGGCGGACACTAAA	0.348																																					p.A129T		.											.	.	.	0			c.G385A						.	C	THR/ALA	0,4406		0,0,2203	64	63	64		385	5.7	1	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SESTD1	NM_178123.4	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	129/697	180016103	1,13005	2203	4300	6503	SO:0001583	missense	91404	exon6			TGTTGGCGGACAC	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.385G>A	2.37:g.180016103C>T	ENSP00000415332:p.Ala129Thr	108	0		59	5	NM_178123	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546838	0.65198	0.0	1.16E-4	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.62788	-0.0;-0.0;-0.0	5.68	5.68	0.88126	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.046327	0.85682	D	0.000000	T	0.51669	0.1688	N	0.19112	0.55	0.80722	D	1	P	0.43857	0.819	B	0.41332	0.354	T	0.47368	-0.9123	9	.	.	.	-9.0444	20.1554	0.98111	0.0:1.0:0.0:0.0	.	129	Q86VW0	SESD1_HUMAN	T	129	ENSP00000415332:A129T;ENSP00000416164:A129T;ENSP00000410286:A129T	.	A	-	1	0	SESTD1	179724348	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.742000	0.85008	2.838000	0.97847	0.591000	0.81541	GCC	.		0.348	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		T	180016103	C	T	180016103	3	4	32	1	0	0	0	0	1	0	0	0	14172	768	27	1	1757	1	SESTD1	2	180016103	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	150611475	180016103	63183270	9	4987											
ITGAV	3685	hgsc.bcm.edu	37	2	187511445	187511445	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr2:187511445G>T	ENST00000261023.3	+	13	1466	c.1192G>T	c.(1192-1194)Gat>Tat	p.D398Y	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.D352Y|ITGAV_ENST00000374907.3_Missense_Mutation_p.D362Y	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	398					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)	TGGGGGTGAAGATAAAAAAGG	0.453																																					p.D398Y	Melanoma(58;108 1995 6081)	.											ITGAV,caecum,carcinoma,0,1	ITGAV	0	0			c.G1192T						.						92	89	90					2																	187511445		2203	4300	6503	SO:0001583	missense	3685	exon13			GGTGAAGATAAAA		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.1192G>T	2.37:g.187511445G>T	ENSP00000261023:p.Asp398Tyr	25	0		26	2	NM_002210	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172524	0.57584	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.23552	1.9;1.9;1.9	5.38	5.38	0.77491	.	0.374286	0.32372	N	0.006183	T	0.36991	0.0987	M	0.63843	1.955	0.51482	D	0.999925	B;P;P	0.36354	0.322;0.549;0.548	B;B;B	0.41571	0.24;0.36;0.24	T	0.23511	-1.0186	10	0.72032	D	0.01	.	19.1392	0.93441	0.0:0.0:1.0:0.0	.	352;362;398	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	Y	398;398;362;352	ENSP00000261023:D398Y;ENSP00000364042:D362Y;ENSP00000404291:D352Y	ENSP00000261023:D398Y	D	+	1	0	ITGAV	187219690	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.393000	0.59665	2.512000	0.84698	0.561000	0.74099	GAT	.		0.453	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		T	187511445	G	T	187511445	3	4	32	1	0	0	0	0	1	0	0	0	7915	942	33	3	1293	3	ITGAV	2	187511445	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	7495342	187511445	55687928	10	4988											
DOCK10	55619	hgsc.bcm.edu	37	2	225637968	225637968	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr2:225637968G>T	ENST00000258390.7	-	53	6177	c.6110C>A	c.(6109-6111)tCc>tAc	p.S2037Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.S2031Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2037	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)		AACCTTCTTGGACATCTCGTC	0.453																																					p.S2037Y		.											DOCK10_ENST00000373702,NS,carcinoma,0,2	DOCK10_ENST00000373702	0	0			c.C6110A						.						145	139	141					2																	225637968		2106	4247	6353	SO:0001583	missense	55619	exon53			TTCTTGGACATCT	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.6110C>A	2.37:g.225637968G>T	ENSP00000258390:p.Ser2037Tyr	37	0		33	2	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.489008	0.64074	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.18960	2.18;2.18	5.63	5.63	0.86233	.	0.113540	0.64402	D	0.000007	T	0.43188	0.1236	M	0.69823	2.125	0.46298	D	0.998979	P;P;P	0.42993	0.797;0.797;0.703	P;P;P	0.53266	0.516;0.633;0.722	T	0.21999	-1.0229	10	0.66056	D	0.02	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	2037;2031;699	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	Y	2031;2037;544	ENSP00000386694:S2031Y;ENSP00000258390:S2037Y	ENSP00000258390:S2037Y	S	-	2	0	DOCK10	225346212	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.310000	0.78947	2.652000	0.90054	0.655000	0.94253	TCC	.		0.453	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225637968	G	T	225637968	3	4	32	1	0	0	0	0	1	0	0	0	4699	1174	41	3	466	3	DOCK10	2	225637968	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	38126523	225637968	17561405	11	4989											
GIGYF2	26058	hgsc.bcm.edu	37	2	233708929	233708929	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr2:233708929G>A	ENST00000409547.1	+	26	3374	c.3063G>A	c.(3061-3063)caG>caA	p.Q1021Q	GIGYF2_ENST00000409196.3_Silent_p.Q1015Q|GIGYF2_ENST00000409451.3_Silent_p.Q1042Q|GIGYF2_ENST00000409480.1_Silent_p.Q1043Q|GIGYF2_ENST00000373563.4_Silent_p.Q1021Q|GIGYF2_ENST00000373566.3_Silent_p.Q1043Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A864T	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1021	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)	p.Q1042Q(1)|p.Q1021Q(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)		agcagcagcagcaacaccagc	0.473																																					p.Q1042Q		.											GIGYF2_ENST00000409451,NS,carcinoma,0,2	GIGYF2_ENST00000409451	0	2	Substitution - coding silent(2)	endometrium(2)	c.G3126A						.						38	27	31					2																	233708929		2195	4290	6485	SO:0001819	synonymous_variant	26058	exon26			GCAGCAGCAACAC	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.3063G>A	2.37:g.233708929G>A		26	0		26	2	NM_001103147	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185557	0.38609	.	.	ENSG00000204120	ENST00000452341	T	0.72051	-0.62	4.57	1.77	0.24775	.	.	.	.	.	T	0.58452	0.2123	.	.	.	0.20196	N	0.999926	B	0.02656	0.0	B	0.08055	0.003	T	0.52845	-0.8521	8	0.87932	D	0	-12.091	7.606	0.28103	0.2887:0.0:0.7113:0.0	.	864	E9PC50	.	T	864	ENSP00000411505:A864T	ENSP00000411505:A864T	A	+	1	0	GIGYF2	233417173	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.850000	0.48294	0.372000	0.24591	-0.291000	0.09656	GCA	.		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		A	233708929	G	A	233708929	2	1	32	1	0	0	0	0	0	0	0	1	6404	962	34	3		3	GIGYF2	2	233708929	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	8070961	233708929	9490444	12	4990											
PASK	23178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	242051786	242051786	+	Silent	SNP	G	G	A	rs200314136		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr2:242051786G>A	ENST00000405260.1	-	15	4100	c.3402C>T	c.(3400-3402)atC>atT	p.I1134I	PASK_ENST00000544142.1_Silent_p.I948I|PASK_ENST00000539818.1_Silent_p.I918I|PASK_ENST00000358649.4_Silent_p.I1141I|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000234040.4_Silent_p.I1134I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1134	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)		CGGCGATCACGATGTTCTCAT	0.488																																					p.I1141I		.											.	.	.	0			c.C3423T						.	G		0,4406		0,0,2203	79	72	74		3402	-3	0.1	2		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PASK	NM_015148.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1134/1324	242051786	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23178	exon15			GATCACGATGTTC	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.3402C>T	2.37:g.242051786G>A		22	0		22	8	NM_001252119	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																			0.001		0.488	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242051786	G	A	242051786	2	1	32	1	0	0	0	0	0	0	0	1	11511	1048	37	1		1	PASK	2	242051786	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	8342857	242051786	1147587	13	4991											
ANO7	50636	hgsc.bcm.edu;ucsc.edu	37	2	242135132	242135132	+	Missense_Mutation	SNP	G	G	A	rs149691575		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr2:242135132G>A	ENST00000274979.8	+	4	446	c.343G>A	c.(343-345)Gtt>Att	p.V115I	ANO7_ENST00000402530.3_Missense_Mutation_p.V114I|ANO7_ENST00000402430.3_Missense_Mutation_p.V114I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	115					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						CTTCGTCCTCGTTTGGGAGGA	0.622																																					p.V115I		.											.	.	.	0			c.G343A						.	G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	61	54	56		340,343	1	0	2	dbSNP_134	56	0,8600		0,0,4300	yes	missense,missense	ANO7	NM_001001666.3,NM_001001891.3	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	114/180,115/934	242135132	2,13004	2203	4300	6503	SO:0001583	missense	50636	exon4			GTCCTCGTTTGGG	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.343G>A	2.37:g.242135132G>A	ENSP00000274979:p.Val115Ile	11	0		20	11	NM_001001891	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615198	0.28712	4.54E-4	0.0	ENSG00000146205	ENST00000274979;ENST00000402530;ENST00000402430	T;T;T	0.73897	-0.69;0.24;-0.79	2.92	0.957	0.19613	.	.	.	.	.	T	0.82019	0.4946	M	0.76170	2.325	0.27368	N	0.955778	D;D	0.89917	1.0;0.975	D;B	0.80764	0.994;0.249	T	0.69390	-0.5158	9	0.59425	D	0.04	.	5.4983	0.16815	0.1253:0.2043:0.6705:0.0	.	115;114	Q6IWH7;Q6IWH7-2	ANO7_HUMAN;.	I	115;114;114	ENSP00000274979:V115I;ENSP00000383985:V114I;ENSP00000385418:V114I	ENSP00000274979:V115I	V	+	1	0	ANO7	241783805	0.899000	0.30636	0.016000	0.15963	0.063000	0.16089	1.109000	0.31135	0.067000	0.16545	0.467000	0.42956	GTT	0.000		0.622	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		A	242135132	G	A	242135132	3	1	32	1	0	0	0	0	1	0	0	0	702	1145	40	1	357	1	ANO7	2	242135132	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	83346	242135132	1064241	14	4992											
LRRC2	79442	ucsc.edu;bcgsc.ca	37	3	46563075	46563075	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:46563075G>T	ENST00000395905.3	-	8	1395	c.1003C>A	c.(1003-1005)Cgg>Agg	p.R335R	LRRC2_ENST00000296144.3_Silent_p.R335R	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	335										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TGGCGATCCCGTTCACTTTCC	0.333																																					p.R335R													LRRC2,NS,carcinoma,+1,3	LRRC2	37	0			c.C1003A						.						111	109	110					3																	46563075		2203	4300	6503	SO:0001819	synonymous_variant	79442	exon8			GATCCCGTTCACT	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.1003C>A	3.37:g.46563075G>T		40	0		38	4	NM_024512	B2RDQ7|Q96LT5	Silent	SNP	ENST00000395905.3	37	CCDS2741.1																																																																																			.		0.333	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			T	46563075	G	T	46563075	2	4	32	1	0	0	0	0	0	0	0	1	9011	1144	40	2		2	LRRC2	3	46563075	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		46563075	151459355	15	4993											
SETD2	29072	hgsc.bcm.edu	37	3	47129614	47129614	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:47129614C>T	ENST00000409792.3	-	10	5308	c.5266G>A	c.(5266-5268)Gaa>Aaa	p.E1756K	snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1756					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.E1253*(1)|p.E1756*(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)		TGTATGAGTTCCAGACAGGTA	0.378			"N, F, S, Mis"		clear cell renal carcinoma																																p.E1756K		.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	SETD2_ENST00000409792,NS,carcinoma,0,2	SETD2_ENST00000409792	0	2	Substitution - Nonsense(2)	lung(2)	c.G5266A						.						120	125	124					3																	47129614		2203	4300	6503	SO:0001583	missense	29072	exon10			TGAGTTCCAGACA	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.5266G>A	3.37:g.47129614C>T	ENSP00000386759:p.Glu1756Lys	44	0		47	2	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	2.797	-0.249982	0.05867	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.86297	-2.1	4.46	-4.26	0.03755	.	0.481780	0.18774	N	0.131531	T	0.53077	0.1774	N	0.00707	-1.245	0.20975	N	0.999818	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60068	-0.7335	10	0.02654	T	1	.	8.4158	0.32670	0.0:0.4985:0.1305:0.3711	.	1756;1756	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	1756	ENSP00000386759:E1756K	ENSP00000386759:E1756K	E	-	1	0	SETD2	47104618	0.947000	0.32204	0.005000	0.12908	0.920000	0.55202	0.827000	0.27421	-0.940000	0.03705	-0.355000	0.07637	GAA	.		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47129614	C	T	47129614	3	4	32	1	0	0	0	0	1	0	0	0	14176	864	30	3	2476	3	SETD2	3	47129614	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	566539	47129614	150892816	16	4994											
VPRBP	9730	broad.mit.edu;bcgsc.ca	37	3	51449832	51449832	+	Splice_Site	SNP	C	C	G			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:51449832C>G	ENST00000335891.5	-	15	2875		c.e15+1					Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						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)		AGACCACTGACCTGGTCCTCC	0.483																																					.													.	VPRBP	107	0			c.4050+1G>C						.						130	131	130					3																	51449832		2147	4256	6403	SO:0001630	splice_region_variant	9730	exon22			CACTGACCTGGTC	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.2865+1G>C	3.37:g.51449832C>G		24	0		14	10	NM_001171904	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Splice_Site	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	C	28.6	4.934628	0.92458	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPRBP	51424872	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.861000	0.75478	2.826000	0.97356	0.655000	0.94253	.	.		0.483	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	Intron	G	51449832	C	G	51449832	5	3	32	1	0	0	0	0	0	0	1	0	17234	521	18	5	322	5	VPRBP	3	51449832	Splice_Site	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	4320218	51449832	146572598	17	4995											
FAM55C	91775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	101540335	101540335	+	Missense_Mutation	SNP	G	G	T	rs149452985		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:101540335G>T	ENST00000491511.2	+	8	2173	c.1217G>T	c.(1216-1218)cGc>cTc	p.R406L	RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000273347.5_Missense_Mutation_p.R406L|NXPE3_ENST00000477909.1_Missense_Mutation_p.R406L|NXPE3_ENST00000422132.1_Missense_Mutation_p.R406L	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	406						extracellular region (GO:0005576)											CTCAAATACCGCTGCCATGGT	0.493																																					p.R406L		.											.	.	.	0			c.G1217T						.	G	LEU/ARG,LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	127	99	108		1217,1217	5.8	1	3	dbSNP_134	108	0,8600		0,0,4300	no	missense,missense	FAM55C	NM_001134456.1,NM_145037.2	102,102	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	406/560,406/560	101540335	1,13005	2203	4300	6503	SO:0001583	missense	91775	exon8			AATACCGCTGCCA	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.1217G>T	3.37:g.101540335G>T	ENSP00000417485:p.Arg406Leu	27	0		26	11	NM_145037	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022432	0.93462	2.27E-4	0.0	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56214	-0.8016	10	0.72032	D	0.01	-13.6396	20.1162	0.97934	0.0:0.0:1.0:0.0	.	406	Q969Y0	FA55C_HUMAN	L	406	ENSP00000273347:R406L;ENSP00000417485:R406L;ENSP00000418369:R406L;ENSP00000396421:R406L	ENSP00000273347:R406L	R	+	2	0	FAM55C	103023025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.953000	0.87836	2.756000	0.94617	0.655000	0.94253	CGC	0.000		0.493	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		T	101540335	G	T	101540335	3	4	32	1	0	0	0	0	1	0	0	0	5608	1087	38	2	1235	2	FAM55C	3	101540335	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	50090503	101540335	96482095	18	4996											
C3orf17	25871	hgsc.bcm.edu	37	3	112727076	112727076	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:112727076G>T	ENST00000314400.5	-	8	1368	c.1177C>A	c.(1177-1179)Ctg>Atg	p.L393M	C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000393857.2_Missense_Mutation_p.L257M|C3orf17_ENST00000383675.2_Missense_Mutation_p.L323M	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	393					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTGTTACCCAGAAAAATGGCC	0.398																																					p.L393M		.											.	.	.	0			c.C1177A						.						107	107	107					3																	112727076		2203	4300	6503	SO:0001583	missense	25871	exon8			TACCCAGAAAAAT	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1177C>A	3.37:g.112727076G>T	ENSP00000320251:p.Leu393Met	99	0		63	3	NM_015412	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712204	0.48517	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.45276	0.9;0.9;0.9	6.07	3.36	0.38483	.	0.067551	0.64402	D	0.000010	T	0.58892	0.2154	M	0.71581	2.175	0.38563	D	0.949753	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.60826	-0.7186	10	0.72032	D	0.01	-9.6666	7.8377	0.29380	0.3153:0.0:0.6847:0.0	.	282;190;323;393	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	M	393;323;40;257	ENSP00000320251:L393M;ENSP00000373173:L323M;ENSP00000377438:L257M	ENSP00000320251:L393M	L	-	1	2	C3orf17	114209766	1.000000	0.71417	0.997000	0.53966	0.549000	0.35272	2.826000	0.48104	0.472000	0.27344	-0.225000	0.12378	CTG	.		0.398	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		T	112727076	G	T	112727076	3	4	32	1	0	0	0	0	1	0	0	0	2217	933	33	3	534	3	C3orf17	3	112727076	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	11186741	112727076	85295354	19	4997											
KBTBD12	166348	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	127703108	127703108	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:127703108G>T	ENST00000405109.1	+	6	2326	c.1859G>T	c.(1858-1860)gGc>gTc	p.G620V	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.G227V|KBTBD12_ENST00000405256.1_Missense_Mutation_p.G620V|KBTBD12_ENST00000343941.4_Missense_Mutation_p.G195V			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	620										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GTGGAAGAAGGCAATGAGCAC	0.547																																					p.G620V		.											.	.	.	0			c.G1859T						.						87	80	82					3																	127703108		2203	4300	6503	SO:0001583	missense	166348	exon5			AAGAAGGCAATGA		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.1859G>T	3.37:g.127703108G>T	ENSP00000385957:p.Gly620Val	30	0		36	4	NM_207335	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433486	0.62955	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;D	0.83075	-0.84;-0.66;-0.84;-1.68	5.7	0.794	0.18638	.	0.702531	0.13033	N	0.419187	T	0.64103	0.2568	N	0.08118	0	0.09310	N	0.999997	B;B	0.31859	0.232;0.343	B;B	0.32533	0.07;0.147	T	0.51340	-0.8718	10	0.21540	T	0.41	.	8.8114	0.34969	0.3794:0.0:0.6206:0.0	.	620;195	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	V	620;227;620;195	ENSP00000385957:G620V;ENSP00000385830:G227V;ENSP00000385879:G620V;ENSP00000345478:G195V	ENSP00000345478:G195V	G	+	2	0	KBTBD12	129185798	0.023000	0.18921	0.000000	0.03702	0.950000	0.60333	0.042000	0.13949	-0.147000	0.11254	-0.216000	0.12614	GGC	.		0.547	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		T	127703108	G	T	127703108	3	4	32	1	0	0	0	0	1	0	0	0	8018	1203	42	3	1877	3	KBTBD12	3	127703108	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	14976032	127703108	70319322	20	4998											
IFT122	55764	hgsc.bcm.edu	37	3	129218838	129218838	+	Missense_Mutation	SNP	G	G	T	rs561825107		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:129218838G>T	ENST00000348417.2	+	19	2379	c.2302G>T	c.(2302-2304)Gtg>Ttg	p.V768L	IFT122_ENST00000440957.2_Missense_Mutation_p.V559L|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.V644L|IFT122_ENST00000347300.2_Missense_Mutation_p.V709L|IFT122_ENST00000296266.3_Missense_Mutation_p.V819L|IFT122_ENST00000431818.2_Missense_Mutation_p.V618L|IFT122_ENST00000349441.2_Missense_Mutation_p.V657L|IFT122_ENST00000507564.1_Missense_Mutation_p.V760L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	768					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)		p.V819L(1)		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						CAAAGCCGCCGTGGAGATGTA	0.527																																					p.V819L		.											IFT122,colon,carcinoma,0,3	IFT122	0	1	Substitution - Missense(1)	ovary(1)	c.G2455T						.						157	142	147					3																	129218838		2203	4300	6503	SO:0001583	missense	55764	exon20			GCCGCCGTGGAGA	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.2302G>T	3.37:g.129218838G>T	ENSP00000324005:p.Val768Leu	51	0		45	3	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	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939921	0.73557	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.60672	0.81;0.17;0.29;0.34;0.95;0.94;0.81;0.34;0.93	5.06	5.06	0.68205	.	0.063147	0.64402	D	0.000005	T	0.59266	0.2181	L	0.55481	1.735	0.53005	D	0.999965	P;P;B;P;B;B;B;B;P;P	0.46457	0.628;0.591;0.353;0.546;0.273;0.273;0.273;0.393;0.662;0.878	B;B;B;B;B;B;B;B;B;B	0.43478	0.209;0.421;0.089;0.325;0.124;0.124;0.124;0.246;0.145;0.35	T	0.66156	-0.5994	10	0.72032	D	0.01	-22.0937	18.4268	0.90612	0.0:0.0:1.0:0.0	.	559;94;760;155;644;608;657;709;768;819	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	L	709;819;760;709;618;644;657;768;608;559;265;130	ENSP00000323973:V709L;ENSP00000296266:V819L;ENSP00000425536:V760L;ENSP00000410946:V618L;ENSP00000422179:V644L;ENSP00000324165:V657L;ENSP00000324005:V768L;ENSP00000401569:V559L;ENSP00000424727:V265L	ENSP00000296266:V819L	V	+	1	0	IFT122	130701528	1.000000	0.71417	0.962000	0.40283	0.979000	0.70002	9.525000	0.98039	2.338000	0.79540	0.655000	0.94253	GTG	.		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		T	129218838	G	T	129218838	3	4	32	1	0	0	0	0	1	0	0	0	7582	1145	40	2	2533	2	IFT122	3	129218838	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	1515730	129218838	68803592	21	4999											
CLRN1	7401	hgsc.bcm.edu	37	3	150690293	150690293	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:150690293C>T	ENST00000327047.1	-	1	493	c.203G>A	c.(202-204)gGa>gAa	p.G68E	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.G68E|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	68					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|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)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACACCCTCTCCGTGGAAAAG	0.507																																					p.G68E		.											CLRN1,NS,carcinoma,0,1	CLRN1	0	0			c.G203A						.						92	80	84					3																	150690293		2203	4300	6503	SO:0001583	missense	7401	exon1			CCCTCTCCGTGGA	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.203G>A	3.37:g.150690293C>T	ENSP00000322280:p.Gly68Glu	24	0		28	2	NM_001256819	D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914583	0.92178	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.72282	-0.25;-0.64	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85563	0.1229	10	0.87932	D	0	0.1963	19.4011	0.94630	0.0:1.0:0.0:0.0	.	68	P58418	CLRN1_HUMAN	E	68	ENSP00000322280:G68E;ENSP00000329158:G68E	ENSP00000322280:G68E	G	-	2	0	CLRN1	152172983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.323000	0.79105	2.588000	0.87417	0.561000	0.74099	GGA	.		0.507	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			T	150690293	C	T	150690293	3	4	32	1	0	0	0	0	1	0	0	0	3564	855	30	3	561	3	CLRN1	3	150690293	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	21471455	150690293	47332137	22	5000											
ATP13A3	79572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	194168696	194168696	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:194168696T>C	ENST00000439040.1	-	13	1984	c.1193A>G	c.(1192-1194)tAt>tGt	p.Y398C	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Y398C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	398						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGGTTTGGGATACAATATGGA	0.328																																					p.Y398C		.											.	.	.	0			c.A1193G						.						166	163	164					3																	194168696		1844	4083	5927	SO:0001583	missense	79572	exon12			TTGGGATACAATA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1193A>G	3.37:g.194168696T>C	ENSP00000416508:p.Tyr398Cys	141	0		73	30	NM_024524	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.464510	0.84425	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.90620	-2.7;-2.7	5.69	5.69	0.88448	ATPase, P-type, ATPase-associated domain (1);	0.057979	0.64402	D	0.000001	D	0.95541	0.8551	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96100	0.9068	10	0.87932	D	0	-18.3797	15.9429	0.79771	0.0:0.0:0.0:1.0	.	398	Q9H7F0	AT133_HUMAN	C	398;398;136	ENSP00000416508:Y398C;ENSP00000256031:Y398C	ENSP00000256031:Y398C	Y	-	2	0	ATP13A3	195649985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.444000	0.80532	2.147000	0.66899	0.533000	0.62120	TAT	.		0.328	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		C	194168696	T	C	194168696	3	2	32	1	0	0	0	0	1	0	0	0	1126	1406	49	4	2571	4	ATP13A3	3	194168696	Missense_Mutation	SNP	T	TCGA-ZH-A8Y5-01A-11D-A417-09	43478403	194168696	3853734	23	5001											
TMEM44	93109	hgsc.bcm.edu	37	3	194337847	194337847	+	Missense_Mutation	SNP	C	C	T	rs369611318		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr3:194337847C>T	ENST00000392432.2	-	7	1110	c.905G>A	c.(904-906)cGt>cAt	p.R302H	TMEM44_ENST00000381975.3_Missense_Mutation_p.R255H|TMEM44_ENST00000347147.4_Missense_Mutation_p.R255H|TMEM44_ENST00000273580.7_Missense_Mutation_p.R255H|TMEM44_ENST00000473092.1_Missense_Mutation_p.R255H	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	302						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)		CAGTGCCGCACGGCCGAGGGA	0.687																																					p.R302H		.											.	.	.	0			c.G905A						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4322		0,0,2161	24	20	21		764,905,764,764	1.8	0.2	3		21	1,8535		0,1,4267	no	missense,missense,missense,missense	TMEM44	NM_001011655.2,NM_001166305.1,NM_001166306.1,NM_138399.4	29,29,29,29	0,1,6428	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging	255/429,302/476,255/397,255/439	194337847	1,12857	2161	4268	6429	SO:0001583	missense	93109	exon7			GCCGCACGGCCGA	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.905G>A	3.37:g.194337847C>T	ENSP00000376227:p.Arg302His	89	0		75	4	NM_001166305	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	CCDS54699.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465243	0.26335	0.0	1.17E-4	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000432352;ENST00000347147;ENST00000381975;ENST00000473092	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.34	1.81	0.25067	.	0.468479	0.18876	N	0.128718	T	0.25606	0.0623	L	0.57536	1.79	0.09310	N	1	B;P;B;B;B	0.37141	0.196;0.584;0.027;0.027;0.196	B;B;B;B;B	0.28232	0.041;0.087;0.009;0.009;0.041	T	0.21965	-1.0230	10	0.54805	T	0.06	-2.4635	4.6261	0.12479	0.0:0.5344:0.2653:0.2003	.	255;302;255;255;255	E9PGA9;Q2T9K0;Q2T9K0-4;Q2T9K0-2;Q2T9K0-6	.;TMM44_HUMAN;.;.;.	H	302;255;13;255;255;255	ENSP00000376227:R302H;ENSP00000273580:R255H;ENSP00000409963:R13H;ENSP00000333355:R255H;ENSP00000371402:R255H;ENSP00000418674:R255H	ENSP00000273580:R255H	R	-	2	0	TMEM44	195819136	0.011000	0.17503	0.199000	0.23439	0.454000	0.32378	0.859000	0.27858	1.250000	0.43966	0.655000	0.94253	CGT	.		0.687	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		T	194337847	C	T	194337847	3	4	32	1	0	0	0	0	1	0	0	0	16215	536	19	1	576	1	TMEM44	3	194337847	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	169151	194337847	3684583	24	5002											
CENPC1	1060	hgsc.bcm.edu	37	4	68396538	68396538	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr4:68396538C>T	ENST00000273853.6	-	5	576	c.326G>A	c.(325-327)aGa>aAa	p.R109K		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	109					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)										CCAACCTGATCTGTTTGTGGC	0.413																																					p.R109K		.											.	.	.	0			c.G326A						.						76	72	74					4																	68396538		1835	4084	5919	SO:0001583	missense	1060	exon5			CCTGATCTGTTTG	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.326G>A	4.37:g.68396538C>T	ENSP00000273853:p.Arg109Lys	77	0		76	4	NM_001812	Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	1.334	-0.595969	0.03771	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.37	-7.67	0.01272	.	1.093840	0.06906	N	0.806780	T	0.18383	0.0441	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	0.33111	-0.9881	9	0.05436	T	0.98	-0.3943	5.3104	0.15828	0.2267:0.1923:0.0:0.581	.	109;109	Q8IW27;Q03188	.;CENPC_HUMAN	K	109	.	ENSP00000273853:R109K	R	-	2	0	CENPC1	68079133	0.000000	0.05858	0.003000	0.11579	0.661000	0.39034	-1.735000	0.01847	-1.787000	0.01268	-0.150000	0.13652	AGA	.		0.413	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			T	68396538	C	T	68396538	3	4	32	1	0	0	0	0	1	0	0	0	3236	913	32	3	2565	3	CENPC1	4	68396538	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		68396538	122757738	25	5003											
UGT2B15	7367	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	69403575	69403575	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr4:69403575G>A	ENST00000317746.2	-	6	1403	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	454					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)	GGGCTTCACCGGTTGATCATG	0.408																																					p.P454L	Melanoma(18;649 833 28984 37818 38500)	.											.	.	.	0			c.C1361T						.						96	95	96					4																	69403575		2092	3934	6026	SO:0001583	missense	7367	exon6			TTCACCGGTTGAT	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.1361C>T	4.37:g.69403575G>A	ENSP00000320401:p.Pro454Leu	59	0		58	48	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236122	0.39498	.	.	ENSG00000197888	ENST00000317746	T	0.76060	-0.99	2.85	2.85	0.33270	.	0.000000	0.64402	U	0.000002	D	0.85509	0.5713	M	0.90019	3.08	0.46499	D	0.999071	.	.	.	.	.	.	D	0.88078	0.2805	8	0.87932	D	0	.	11.4257	0.50009	0.0:0.0:1.0:0.0	.	.	.	.	L	454	ENSP00000320401:P454L	ENSP00000320401:P454L	P	-	2	0	UGT2B17	69086170	1.000000	0.71417	0.391000	0.26233	0.028000	0.11728	4.709000	0.61867	1.580000	0.49851	0.195000	0.17529	CCG	.		0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		A	69403575	G	A	69403575	3	1	32	1	0	0	0	0	1	0	0	0	17007	1116	39	1	235	1	UGT2B15	4	69403575	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	1007037	69403575	121750701	26	5004											
MANBA	4126	hgsc.bcm.edu	37	4	103560932	103560932	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr4:103560932G>A	ENST00000226578.4	-	14	2051	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	MANBA_ENST00000505239.1_Missense_Mutation_p.T594M	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	651					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.T651M(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)		TGCCCCCATCGTGTGCCCTTG	0.493																																					p.T651M		.											MANBA,colon,carcinoma,0,1	MANBA	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1952T						.						144	118	127					4																	103560932		2203	4300	6503	SO:0001583	missense	4126	exon14			CCCATCGTGTGCC		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.1952C>T	4.37:g.103560932G>A	ENSP00000226578:p.Thr651Met	29	0		33	2	NM_005908	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458820	0.84317	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.79749	-1.3;-1.3	5.7	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.097443	0.64402	D	0.000001	D	0.91425	0.7294	M	0.91972	3.26	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93048	0.6463	10	0.66056	D	0.02	-6.3094	14.6915	0.69091	0.0696:0.0:0.9304:0.0	.	594;651	E9PFW2;O00462	.;MANBA_HUMAN	M	651;594	ENSP00000226578:T651M;ENSP00000427322:T594M	ENSP00000226578:T651M	T	-	2	0	MANBA	103779980	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.353000	0.97080	1.432000	0.47375	0.650000	0.86243	ACG	.		0.493	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			A	103560932	G	A	103560932	3	1	32	1	0	0	0	0	1	0	0	0	9257	1145	40	1	703	1	MANBA	4	103560932	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	34157357	103560932	87593344	27	5005											
CENPE	1062	broad.mit.edu	37	4	104032141	104032141	+	Missense_Mutation	SNP	G	G	T	rs373836132		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr4:104032141G>T	ENST00000265148.3	-	47	7657	c.7568C>A	c.(7567-7569)cCt>cAt	p.P2523H	CENPE_ENST00000380026.3_Missense_Mutation_p.P2402H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2523	Globular autoinhibitory domain. {ECO:0000250}.				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)		TTTATTTGAAGGCTGAGGATC	0.338																																					p.P2523H													.	CENPE	253	0			c.C7568A						.						107	115	112					4																	104032141		2203	4300	6503	SO:0001583	missense	1062	exon47			TTTGAAGGCTGAG	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.7568C>A	4.37:g.104032141G>T	ENSP00000265148:p.Pro2523His	43	0		45	3	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700937	0.48307	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.67523	-0.27;-0.26	4.22	2.41	0.29592	.	.	.	.	.	T	0.69006	0.3063	L	0.44542	1.39	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.59889	0.865;0.85	T	0.56673	-0.7940	9	0.87932	D	0	.	7.0662	0.25154	0.2183:0.0:0.7817:0.0	.	2402;2523	Q02224-3;Q02224	.;CENPE_HUMAN	H	2523;2402	ENSP00000265148:P2523H;ENSP00000369365:P2402H	ENSP00000265148:P2523H	P	-	2	0	CENPE	104251590	0.063000	0.20901	0.854000	0.33618	0.997000	0.91878	0.268000	0.18571	0.958000	0.37956	0.650000	0.86243	CCT	.		0.338	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	104032141	G	T	104032141	3	4	32	1	0	0	0	0	1	0	0	0	3237	1000	35	3	549	3	CENPE	4	104032141	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	471209	104032141	87122135	28	5006											
MARCH6	10299	broad.mit.edu	37	5	10415711	10415711	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr5:10415711C>T	ENST00000274140.5	+	21	2210	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	MARCH6_ENST00000449913.2_Missense_Mutation_p.T645M|MARCH6_ENST00000503788.1_Missense_Mutation_p.T588M|MARCH6_ENST00000510792.1_Missense_Mutation_p.T391M	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	693					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGGGCTGTGACGGTGATGGTG	0.488																																					p.T693M													.	MARCH6	89	0			c.C2078T						.						247	215	226					5																	10415711		2203	4300	6503	SO:0001583	missense	10299	exon21			CTGTGACGGTGAT	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2078C>T	5.37:g.10415711C>T	ENSP00000274140:p.Thr693Met	55	0		37	3	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684963	0.88639	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.47177	1.86;0.85;1.86;0.85	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;P;D;P	0.83275	0.957;0.869;0.996;0.764	T	0.63954	-0.6520	10	0.34782	T	0.22	-18.5768	19.8804	0.96895	0.0:1.0:0.0:0.0	.	588;645;273;693	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	M	645;588;693;391	ENSP00000414643:T645M;ENSP00000425930:T588M;ENSP00000274140:T693M;ENSP00000424512:T391M	ENSP00000274140:T693M	T	+	2	0	MARCH6	10468711	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	7.508000	0.81686	2.684000	0.91462	0.563000	0.77884	ACG	.		0.488	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		T	10415711	C	T	10415711	3	4	32	1	0	0	0	0	1	0	0	0	9343	536	19	1	2160	1	MARCH6	5	10415711	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		10415711	170499549	29	5007											
ELOVL7	79993	hgsc.bcm.edu	37	5	60060157	60060157	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr5:60060157G>T	ENST00000508821.1	-	7	710	c.396C>A	c.(394-396)atC>atA	p.I132I	ELOVL7_ENST00000425382.1_Silent_p.I132I|ELOVL7_ENST00000505959.1_Silent_p.I119I|ELOVL7_ENST00000438340.1_Silent_p.I132I	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	132					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GAACAAAAAAGATCTGAAATA	0.328																																					p.I132I		.											ELOVL7,NS,carcinoma,0,1	ELOVL7	0	0			c.C396A						.						51	51	51					5																	60060157		2203	4300	6503	SO:0001819	synonymous_variant	79993	exon6			AAAAAAGATCTGA	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.396C>A	5.37:g.60060157G>T		73	0		44	2	NM_001104558	Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	CCDS34164.1																																																																																			.		0.328	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			T	60060157	G	T	60060157	2	4	32	1	0	0	0	0	0	0	0	1	5095	932	33	3		3	ELOVL7	5	60060157	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	49644446	60060157	120855103	30	5008											
PGGT1B	5229	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	114566719	114566719	+	Splice_Site	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr5:114566719C>T	ENST00000419445.1	-	6	633		c.e6-1		PGGT1B_ENST00000514178.1_Splice_Site|PGGT1B_ENST00000379615.3_Intron	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit						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)		TGTCATAGGACTGAAAAAGAA	0.308																																					.		.											.	.	.	0			c.613-1G>A						.						66	63	64					5																	114566719		2202	4299	6501	SO:0001630	splice_region_variant	5229	exon7			ATAGGACTGAAAA		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.613-1G>A	5.37:g.114566719C>T		36	0		26	4	NM_005023	Q5MJP9	Splice_Site	SNP	ENST00000419445.1	37	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028200	0.75390	.	.	ENSG00000164219	ENST00000419445	.	.	.	5.84	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8173	0.78612	0.1371:0.8629:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGGT1B	114594618	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.385000	0.79763	1.422000	0.47177	0.557000	0.71058	.	.		0.308	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023	Intron	T	114566719	C	T	114566719	5	4	32	1	0	0	0	0	0	0	1	0	11828	579	20	3	537	3	PGGT1B	5	114566719	Splice_Site	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	54506562	114566719	66348541	31	5009											
GNPDA1	10007	hgsc.bcm.edu	37	5	141384672	141384672	+	Missense_Mutation	SNP	G	G	C	rs11557798		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr5:141384672G>C	ENST00000508177.1	-	4	1177	c.419C>G	c.(418-420)cCt>cGt	p.P140R	GNPDA1_ENST00000311337.6_Missense_Mutation_p.P140R|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P140R|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P140R|GNPDA1_ENST00000503794.1_Missense_Mutation_p.P140R|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P106R			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	140					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)			GTGTCCATCAGGGCCGATGCC	0.557																																					p.P140R		.											.	.	.	0			c.C419G						.						49	44	45					5																	141384672		2203	4300	6503	SO:0001583	missense	10007	exon5			CCATCAGGGCCGA	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.419C>G	5.37:g.141384672G>C	ENSP00000423674:p.Pro140Arg	8	0		19	9	NM_005471	B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910946	0.92178	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.84	5.84	0.93424	Glucosamine-6-phosphate isomerase, conserved site (1);Glucosamine/galactosamine-6-phosphate isomerase (1);	0.100922	0.64402	D	0.000001	T	0.56307	0.1976	L	0.31804	0.96	0.80722	D	1	P;P	0.40638	0.725;0.721	P;P	0.53988	0.739;0.659	T	0.55854	-0.8075	10	0.66056	D	0.02	-18.0721	20.1187	0.97949	0.0:0.0:1.0:0.0	.	106;140	E7EVU7;P46926	.;GNPI1_HUMAN	R	140;140;106;140;140;140;140;161;140	ENSP00000423494:P140R;ENSP00000311876:P140R;ENSP00000387718:P106R;ENSP00000424275:P140R;ENSP00000423674:P140R;ENSP00000423485:P140R;ENSP00000424625:P140R;ENSP00000421524:P161R;ENSP00000424537:P140R	ENSP00000311876:P140R	P	-	2	0	GNPDA1	141364856	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	CCT	.		0.557	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		C	141384672	G	C	141384672	3	2	32	1	0	0	0	0	1	0	0	0	6568	1000	35	5	462	5	GNPDA1	5	141384672	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	26817953	141384672	39530588	32	5010											
SMAP1	60682	hgsc.bcm.edu	37	6	71567931	71567931	+	Splice_Site	SNP	A	A	G			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr6:71567931A>G	ENST00000370455.3	+	10	1516	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Splice_Site_p.Q396R|SMAP1_ENST00000316999.5_Splice_Site_p.Q396R	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	423					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AGCCTCTCACAGGTAGGGGTC	0.428																																					p.Q423R		.											SMAP1_ENST00000370455,NS,carcinoma,0,2	SMAP1_ENST00000370455	0	0			c.A1268G						.						26	27	26					6																	71567931		2203	4300	6503	SO:0001630	splice_region_variant	60682	exon10			TCTCACAGGTAGG	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.1269+1A>G	6.37:g.71567931A>G		63	0		50	2	NM_001044305	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586849	0.86851	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455	T;T;T	0.29142	1.82;1.87;1.58	5.39	5.39	0.77823	.	0.257238	0.39341	N	0.001397	T	0.47002	0.1422	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.996;0.998	D;D;D;D	0.77557	0.99;0.986;0.986;0.99	T	0.52457	-0.8573	10	0.72032	D	0.01	-5.6338	15.4359	0.75146	1.0:0.0:0.0:0.0	.	423;396;396;423	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	R	396;396;423	ENSP00000359481:Q396R;ENSP00000313382:Q396R;ENSP00000359484:Q423R	ENSP00000313382:Q396R	Q	+	2	0	SMAP1	71624652	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.730000	0.91510	2.049000	0.60858	0.454000	0.30748	CAG	.		0.428	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305	Missense_Mutation	G	71567931	A	G	71567931	5	3	32	1	0	0	0	0	0	0	1	0	14811	202	7	4	1306	4	SMAP1	6	71567931	Splice_Site	SNP	A	TCGA-ZH-A8Y5-01A-11D-A417-09		71567931	99547136	33	5011											
PRDM1	639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	106553700	106553700	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr6:106553700C>A	ENST00000369096.4	+	5	1899	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K	PRDM1_ENST00000369089.3_Missense_Mutation_p.N421K|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	555	Interaction with PIAS1.				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)		ACAAAAGAAACATGACCGGCT	0.542			"D, N, Mis, F, S"		DLBCL																																p.N555K		.		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	.	.	.	0			c.C1665A						.						57	58	57					6																	106553700		2203	4300	6503	SO:0001583	missense	639	exon5			AAGAAACATGACC		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.1665C>A	6.37:g.106553700C>A	ENSP00000358092:p.Asn555Lys	25	0		22	17	NM_001198	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262706	0.59431	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06768	3.27;3.26;3.27	5.74	4.88	0.63580	.	0.125824	0.85682	D	0.000000	T	0.05273	0.0140	L	0.60455	1.87	0.51012	D	0.999905	P;P	0.52170	0.865;0.951	B;P	0.45913	0.379;0.497	T	0.41980	-0.9478	10	0.25751	T	0.34	-47.0413	9.1176	0.36766	0.0:0.7687:0.0:0.2313	.	421;555	Q86WM7;O75626	.;PRDM1_HUMAN	K	519;555;518;421	ENSP00000358087:N519K;ENSP00000358092:N555K;ENSP00000358085:N421K	ENSP00000358085:N421K	N	+	3	2	PRDM1	106660393	0.989000	0.36119	1.000000	0.80357	0.923000	0.55619	0.756000	0.26419	1.432000	0.47375	0.655000	0.94253	AAC	.		0.542	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			A	106553700	C	A	106553700	3	1	32	1	0	0	0	0	1	0	0	0	12492	477	17	3	1696	3	PRDM1	6	106553700	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	34985769	106553700	64561367	34	5012											
FGFR1OP	11116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	167447400	167447400	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr6:167447400G>A	ENST00000366847.4	+	12	1297	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Missense_Mutation_p.G336S	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	356					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GATAAGTATTGGTGAAGAGAT	0.333			T	FGFR1	"MPD, NHL"																																p.G356S		.		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	.	.	.	0			c.G1066A						.						100	99	99					6																	167447400		2203	4300	6503	SO:0001583	missense	11116	exon12			AGTATTGGTGAAG	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.1066G>A	6.37:g.167447400G>A	ENSP00000355812:p.Gly356Ser	67	0		33	26	NM_007045	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Missense_Mutation	SNP	ENST00000366847.4	37	CCDS5296.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464830	0.84425	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	T;T	0.34859	1.34;1.35	4.94	4.94	0.65067	.	0.128250	0.52532	U	0.000076	T	0.32376	0.0827	L	0.27053	0.805	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.06180	-1.0841	10	0.10636	T	0.68	-20.0815	17.1495	0.86774	0.0:0.0:1.0:0.0	.	309;336;356	E7ET71;O95684-2;O95684	.;.;FR1OP_HUMAN	S	356;309;336	ENSP00000355812:G356S;ENSP00000230248:G336S	ENSP00000230248:G336S	G	+	1	0	FGFR1OP	167367390	1.000000	0.71417	0.657000	0.29651	0.986000	0.74619	5.944000	0.70219	2.263000	0.75096	0.650000	0.86243	GGT	.		0.333	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		A	167447400	G	A	167447400	3	1	32	1	0	0	0	0	1	0	0	0	5886	1348	47	3	1112	3	FGFR1OP	6	167447400	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	60893700	167447400	3667667	35	5013											
ABCA13	154664	hgsc.bcm.edu	37	7	48318114	48318114	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr7:48318114G>T	ENST00000435803.1	+	18	7347	c.7323G>T	c.(7321-7323)ttG>ttT	p.L2441F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2441					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2386L(1)|p.L2441L(1)		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						TCTATGCTTTGTATCCTACCC	0.353																																					p.L2441F		.											ABCA13_ENST00000435803,NS,carcinoma,0,2	ABCA13_ENST00000435803	0	2	Substitution - coding silent(2)	endometrium(2)	c.G7323T						.						95	94	94					7																	48318114		1842	4082	5924	SO:0001583	missense	154664	exon18			TGCTTTGTATCCT	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.7323G>T	7.37:g.48318114G>T	ENSP00000411096:p.Leu2441Phe	56	0		32	2	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	6.501	0.460634	0.12342	.	.	ENSG00000179869	ENST00000435803	T	0.55052	0.54	5.12	-6.02	0.02192	.	1.592420	0.04111	N	0.314547	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06445	-1.0826	10	0.38643	T	0.18	.	0.8276	0.01124	0.3048:0.101:0.2784:0.3157	.	2441	Q86UQ4	ABCAD_HUMAN	F	2441	ENSP00000411096:L2441F	ENSP00000411096:L2441F	L	+	3	2	ABCA13	48288660	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.471000	0.06631	-1.000000	0.03438	-0.825000	0.03093	TTG	.		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48318114	G	T	48318114	3	4	32	1	0	0	0	0	1	0	0	0	31	1368	48	3	7222	3	ABCA13	7	48318114	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		48318114	110820549	36	5014											
PINX1	54984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	10677706	10677706	+	Silent	SNP	G	G	A	rs368778352		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr8:10677706G>A	ENST00000314787.3	-	6	587	c.468C>T	c.(466-468)ccC>ccT	p.P156P	SOX7_ENST00000554914.1_Intron|PINX1_ENST00000426190.2_Intron|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	156					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)		TTTATACCTCGGGAGTCTTCT	0.403													G|||	1	0.000199681	0	0	5008	,	,		16931	0		0	False		,,,				2504	0.001				p.P156P		.											.	.	.	0			c.C468T						.						96	90	92					8																	10677706		1850	4096	5946	SO:0001819	synonymous_variant	54984	exon6			TACCTCGGGAGTC	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.468C>T	8.37:g.10677706G>A		90	0		65	58	NM_017884	B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Silent	SNP	ENST00000314787.3	37	CCDS47801.1																																																																																			.		0.403	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		A	10677706	G	A	10677706	2	1	32	1	0	0	0	0	0	0	0	1	11972	1103	39	1		1	PINX1	8	10677706	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		10677706	135686316	37	5015											
DMRTA1	63951	hgsc.bcm.edu	37	9	22451584	22451584	+	Nonsense_Mutation	SNP	G	G	T	rs150162716		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr9:22451584G>T	ENST00000325870.2	+	2	1414	c.1189G>T	c.(1189-1191)Gga>Tga	p.G397*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	397					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|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)	p.G397R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TAGTCTTGCTGGAATTGGTTT	0.408																																					p.G397X		.											DMRTA1,arm,malignant_melanoma,0,1	DMRTA1	0	1	Substitution - Missense(1)	skin(1)	c.G1189T						.						89	96	94					9																	22451584		2203	4300	6503	SO:0001587	stop_gained	63951	exon2			CTTGCTGGAATTG	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1189G>T	9.37:g.22451584G>T	ENSP00000319651:p.Gly397*	57	0		49	3	NM_022160	A1L481|Q8N8Y9|Q9H4B9	Nonsense_Mutation	SNP	ENST00000325870.2	37	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	G	39	7.376310	0.98245	.	.	ENSG00000176399	ENST00000325870	.	.	.	5.92	5.92	0.95590	.	0.588879	0.17749	N	0.163318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-18.8041	19.0887	0.93217	0.0:0.0:1.0:0.0	.	.	.	.	X	397	.	ENSP00000319651:G397X	G	+	1	0	DMRTA1	22441584	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	1.887000	0.39698	2.801000	0.96364	0.650000	0.86243	GGA	.		0.408	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			T	22451584	G	T	22451584	4	4	32	1	0	0	0	0	0	1	0	0	4602	1349	47	3	1195	3	DMRTA1	9	22451584	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		22451584	118761847	38	5016											
TSC1	7248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	135786449	135786449	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr9:135786449A>C	ENST00000298552.3	-	11	1302	c.1081T>G	c.(1081-1083)Tct>Gct	p.S361A	TSC1_ENST00000545250.1_Missense_Mutation_p.S310A|TSC1_ENST00000440111.2_Missense_Mutation_p.S361A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	361					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTTCCAGGAGAAGTTGGAGGA	0.433			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.S361A		.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	.	.	.	1	Unknown(1)	bone(1)	c.T1081G						.						678	642	654					9																	135786449		2203	4300	6503	SO:0001583	missense	7248	exon11	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	CAGGAGAAGTTGG	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1081T>G	9.37:g.135786449A>C	ENSP00000298552:p.Ser361Ala	48	0		38	15	NM_000368	B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.045645	0.93685	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000424271	D;D;D	0.88896	-2.44;-2.44;-2.44	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.76002	2.32	0.80722	D	1	P;D;D;B	0.59357	0.852;0.979;0.985;0.178	P;P;D;P	0.64144	0.763;0.87;0.922;0.612	D	0.93947	0.7228	10	0.62326	D	0.03	-16.487	15.1557	0.72739	1.0:0.0:0.0:0.0	.	310;361;361;361	B7Z897;Q59IT9;Q32NF0;Q92574	.;.;.;TSC1_HUMAN	A	361;361;310;240	ENSP00000298552:S361A;ENSP00000394524:S361A;ENSP00000444017:S310A	ENSP00000298552:S361A	S	-	1	0	TSC1	134776270	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.573000	0.74009	2.168000	0.68352	0.533000	0.62120	TCT	.		0.433	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			C	135786449	A	C	135786449	3	2	32	1	0	0	0	0	1	0	0	0	16653	246	9	4	2465	4	TSC1	9	135786449	Missense_Mutation	SNP	A	TCGA-ZH-A8Y5-01A-11D-A417-09	113334865	135786449	5426982	39	5017											
USP6NL	9712	hgsc.bcm.edu	37	10	11505503	11505503	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr10:11505503G>T	ENST00000609104.1	-	15	1818	c.1424C>A	c.(1423-1425)gCc>gAc	p.A475D	USP6NL_ENST00000379237.2_Missense_Mutation_p.A498D|USP6NL_ENST00000277575.5_Missense_Mutation_p.A492D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	475					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						ATTTGAAGTGGCGTTGCTATT	0.453																																					p.A492D		.											.	.	.	0			c.C1475A						.						179	177	178					10																	11505503		1979	4156	6135	SO:0001583	missense	9712	exon14			GAAGTGGCGTTGC	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.1424C>A	10.37:g.11505503G>T	ENSP00000476462:p.Ala475Asp	44	0		50	4	NM_001080491	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219662	0.95139	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.12255	2.7;2.73	5.74	5.74	0.90152	.	0.062585	0.64402	D	0.000006	T	0.40862	0.1134	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.07829	-1.0752	10	0.72032	D	0.01	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	475;492	Q92738;Q92738-2	US6NL_HUMAN;.	D	475;492;475	ENSP00000277575:A492D;ENSP00000368539:A475D	ENSP00000277575:A492D	A	-	2	0	USP6NL	11545509	1.000000	0.71417	0.954000	0.39281	0.817000	0.46193	6.831000	0.75324	2.873000	0.98535	0.561000	0.74099	GCC	.		0.453	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		T	11505503	G	T	11505503	3	4	32	1	0	0	0	0	1	0	0	0	17136	1203	42	3	1066	3	USP6NL	10	11505503	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		11505503	124029244	40	5018											
CUBN	8029	hgsc.bcm.edu	37	10	17026203	17026203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr10:17026203G>A	ENST00000377833.4	-	30	4491	c.4426C>T	c.(4426-4428)Cag>Tag	p.Q1476*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1476	CUB 9. {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)	CTGGAGACCTGCATGGGGTTC	0.498																																					p.Q1476X		.											.	.	.	0			c.C4426T						.						135	122	126					10																	17026203		2203	4300	6503	SO:0001587	stop_gained	8029	exon30			AGACCTGCATGGG	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.4426C>T	10.37:g.17026203G>A	ENSP00000367064:p.Gln1476*	39	0		72	4	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	47	12.992122	0.99711	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.96	5.96	0.96718	.	0.318937	0.22927	N	0.053948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	1476	.	ENSP00000367064:Q1476X	Q	-	1	0	CUBN	17066209	1.000000	0.71417	0.988000	0.46212	0.622000	0.37654	6.039000	0.70972	2.826000	0.97356	0.655000	0.94253	CAG	.		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	17026203	G	A	17026203	4	1	32	1	0	0	0	0	0	1	0	0	4060	1328	46	3	6597	3	CUBN	10	17026203	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	5520700	17026203	118508544	41	5019											
ARHGAP19	84986	hgsc.bcm.edu	37	10	99024582	99024582	+	Splice_Site	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr10:99024582C>T	ENST00000358531.4	-	3	432		c.e3+1		ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site|ARHGAP19_ENST00000355366.5_Splice_Site|ARHGAP19_ENST00000371027.1_Splice_Site|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AGTAGTCTTACTTTTGTGTAG	0.363																																					.		.											ARHGAP19_ENST00000358531,NS,carcinoma,0,1	ARHGAP19_ENST00000358531	0	0			c.403+1G>A						.						82	83	82					10																	99024582		2203	4300	6503	SO:0001630	splice_region_variant	84986	exon4			GTCTTACTTTTGT	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.403+1G>A	10.37:g.99024582C>T		35	0		50	2	NM_032900	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Splice_Site	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358525	0.82243	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3571	0.94420	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP19	99014572	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.539000	0.82063	2.592000	0.87571	0.655000	0.94253	.	.		0.363	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	Intron	T	99024582	C	T	99024582	5	4	32	1	0	0	0	0	0	0	1	0	869	579	20	3	1120	3	ARHGAP19	10	99024582	Splice_Site	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	81998379	99024582	36510165	42	5020											
ADRA2A	150	hgsc.bcm.edu	37	10	112838330	112838330	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr10:112838330C>T	ENST00000280155.2	+	1	1541	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	177					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)	AGAAgggcggcggcggcggcc	0.662																																					p.G192G	Esophageal Squamous(173;605 2658 7278 49362)	.											ADRA2A,colon,carcinoma,0,1	ADRA2A	0	0			c.C576T						.						13	17	16					10																	112838330		2196	4289	6485	SO:0001819	synonymous_variant	150	exon1			GGGCGGCGGCGGC	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.576C>T	10.37:g.112838330C>T		34	0		33	2	NM_000681	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	CCDS7569.2																																																																																			.		0.662	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		T	112838330	C	T	112838330	2	4	32	1	0	0	0	0	0	0	0	1	337	755	27	1		1	ADRA2A	10	112838330	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	13813748	112838330	22696417	43	5021											
VENTX	27287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	135053262	135053262	+	Silent	SNP	C	C	T	rs560345091		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr10:135053262C>T	ENST00000325980.9	+	2	835	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	108					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)		CCTTGGAGGGCGTCTTCCAGC	0.637													C|||	1	0.000199681	0	0.0014	5008	,	,		13272	0		0	False		,,,				2504	0				p.G108G		.											.	.	.	0			c.C324T						.						36	34	35					10																	135053262		2203	4298	6501	SO:0001819	synonymous_variant	27287	exon2			GGAGGGCGTCTTC	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.324C>T	10.37:g.135053262C>T		26	0		33	11	NM_014468	Q32MZ3	Silent	SNP	ENST00000325980.9	37	CCDS7675.1																																																																																			.		0.637	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		T	135053262	C	T	135053262	2	4	32	1	0	0	0	0	0	0	0	1	17202	755	27	1		1	VENTX	10	135053262	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	22214932	135053262	481485	44	5022											
ZNF195	7748	hgsc.bcm.edu;bcgsc.ca	37	11	3381489	3381489	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:3381489C>T	ENST00000399602.4	-	6	875	c.749G>A	c.(748-750)gGc>gAc	p.G250D	ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000354599.6_Missense_Mutation_p.G178D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	250					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)		AAAGGATTTGCCACATTCTTG	0.299																																					p.G250D		.											.	.	.	0			c.G749A						.						55	54	55					11																	3381489		1934	4156	6090	SO:0001583	missense	7748	exon6			GATTTGCCACATT		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.749G>A	11.37:g.3381489C>T	ENSP00000382511:p.Gly250Asp	60	0		51	4	NM_001130520	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646014	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.34472	2.04;2.04;2.04;2.04;2.04;2.04;1.36	0.693	-0.389	0.12455	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.64630	1.985	0.26048	N	0.981527	D;P;D;B;D;B	0.89917	0.997;0.745;1.0;0.445;1.0;0.445	D;B;D;B;D;B	0.87578	0.994;0.095;0.996;0.058;0.998;0.058	T	0.35001	-0.9806	9	0.62326	D	0.03	.	3.7929	0.08728	0.0:0.4377:0.0:0.5623	.	231;109;227;182;250;178	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	178;250;182;182;227;231;205	ENSP00000346613:G178D;ENSP00000382511:G250D;ENSP00000344483:G182D;ENSP00000387998:G182D;ENSP00000005082:G227D;ENSP00000435828:G231D;ENSP00000431937:G205D	ENSP00000005082:G227D	G	-	2	0	ZNF195	3338065	0.810000	0.29049	0.015000	0.15790	0.768000	0.43524	0.518000	0.22847	-0.180000	0.10637	0.313000	0.20887	GGC	.		0.299	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			T	3381489	C	T	3381489	3	4	32	1	0	0	0	0	1	0	0	0	17806	739	26	3	1144	3	ZNF195	11	3381489	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		3381489	131625027	45	5023											
ART5	116969	broad.mit.edu;ucsc.edu	37	11	3661209	3661209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:3661209G>T	ENST00000397068.3	-	2	842	c.450C>A	c.(448-450)tgC>tgA	p.C150*	ART5_ENST00000397067.3_Nonsense_Mutation_p.C150*|ART5_ENST00000359918.4_Nonsense_Mutation_p.C150*|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	150					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)		GTCCCCTGCTGCAGCCCCCAC	0.642																																					p.C150X													.	ART5	38	0			c.C450A						.						46	48	47					11																	3661209		2201	4298	6499	SO:0001587	stop_gained	116969	exon3			CCTGCTGCAGCCC	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.450C>A	11.37:g.3661209G>T	ENSP00000380258:p.Cys150*	82	1		52	9	NM_001079536	C9IYG7|Q6UX84|Q86W02	Nonsense_Mutation	SNP	ENST00000397068.3	37	CCDS7743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.073642|5.073642	0.94000|0.94000	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918|ENST00000453353	.|.	.|.	.|.	6.07|6.07	4.2|4.2	0.49525|0.49525	.|.	0.306475|.	0.39083|.	N|.	0.001480|.	.|T	.|0.50769	.|0.1635	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60826	.|-0.7186	.|3	0.02654|.	T|.	1|.	-29.3234|-29.3234	8.5145|8.5145	0.33237|0.33237	0.2358:0.0:0.7642:0.0|0.2358:0.0:0.7642:0.0	.|.	.|.	.|.	.|.	X|K	150|107	.|.	ENSP00000352992:C150X|.	C|Q	-|-	3|1	2|0	ART5|ART5	3617785|3617785	0.829000|0.829000	0.29322|0.29322	0.946000|0.946000	0.38457|0.38457	0.026000|0.026000	0.11368|0.11368	1.220000|1.220000	0.32491|0.32491	1.582000|1.582000	0.49881|0.49881	0.655000|0.655000	0.94253|0.94253	TGC|CAG	.		0.642	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		T	3661209	G	T	3661209	4	4	32	1	0	0	0	0	0	1	0	0	1001	1311	46	3	437	3	ART5	11	3661209	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	279720	3661209	131345307	46	5024											
PRMT3	10196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	20448337	20448337	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:20448337A>G	ENST00000331079.6	+	10	1136	c.919A>G	c.(919-921)Aca>Gca	p.T307A	PRMT3_ENST00000437750.2_Missense_Mutation_p.T245A	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	307	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGATACTATTACACTAATTAA	0.269																																					p.T307A		.											.	.	.	0			c.A919G						.						44	46	46					11																	20448337		2181	4266	6447	SO:0001583	missense	10196	exon10			ACTATTACACTAA	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.919A>G	11.37:g.20448337A>G	ENSP00000331879:p.Thr307Ala	105	0		85	32	NM_005788	B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	A	9.849	1.193255	0.22037	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.25579	1.79;1.79	5.32	2.6	0.31112	.	0.562858	0.20805	N	0.085356	T	0.15219	0.0367	L	0.31664	0.95	0.35670	D	0.813225	B;B	0.10296	0.003;0.002	B;B	0.15052	0.007;0.012	T	0.11494	-1.0585	10	0.44086	T	0.13	0.1632	2.9788	0.05947	0.5189:0.0:0.1331:0.348	.	245;307	O60678-2;O60678	.;ANM3_HUMAN	A	307;307;245	ENSP00000331879:T307A;ENSP00000397766:T245A	ENSP00000331879:T307A	T	+	1	0	PRMT3	20404913	0.854000	0.29725	0.483000	0.27378	0.994000	0.84299	1.686000	0.37669	0.210000	0.20664	0.454000	0.30748	ACA	.		0.269	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		G	20448337	A	G	20448337	3	3	32	1	0	0	0	0	1	0	0	0	12580	391	14	4	957	4	PRMT3	11	20448337	Missense_Mutation	SNP	A	TCGA-ZH-A8Y5-01A-11D-A417-09	16787128	20448337	114558179	47	5025											
SLC5A12	159963	hgsc.bcm.edu;bcgsc.ca	37	11	26725205	26725205	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:26725205G>T	ENST00000396005.3	-	6	1003	c.694C>A	c.(694-696)Cct>Act	p.P232T	SLC5A12_ENST00000280467.6_Missense_Mutation_p.P232T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	232					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						CGCCTGAGAGGATCTACATCA	0.403																																					p.P232T		.											.	.	.	0			c.C694A						.						124	120	121					11																	26725205		2203	4299	6502	SO:0001583	missense	159963	exon6			TGAGAGGATCTAC	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.694C>A	11.37:g.26725205G>T	ENSP00000379326:p.Pro232Thr	60	0		56	4	NM_178498	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680908	0.88542	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.89196	-2.48;-2.48;-2.48	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98270	1.0503	10	0.87932	D	0	.	19.3946	0.94601	0.0:0.0:1.0:0.0	.	232;232	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	T	232;232;44	ENSP00000379326:P232T;ENSP00000280467:P232T;ENSP00000435053:P44T	ENSP00000280467:P232T	P	-	1	0	SLC5A12	26681781	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.592000	0.87571	0.585000	0.79938	CCT	.		0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		T	26725205	G	T	26725205	3	4	32	1	0	0	0	0	1	0	0	0	14709	1174	41	3	1202	3	SLC5A12	11	26725205	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	6276868	26725205	108281311	48	5026											
SLC3A2	6520	ucsc.edu;bcgsc.ca	37	11	62648550	62648550	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:62648550C>T	ENST00000377890.2	+	4	526	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	SLC3A2_ENST00000377889.2_Missense_Mutation_p.P58S|SLC3A2_ENST00000536981.1_5'Flank|SLC3A2_ENST00000535296.1_Missense_Mutation_p.P89S|SLC3A2_ENST00000338663.7_Missense_Mutation_p.P19S|SLC3A2_ENST00000377891.2_Missense_Mutation_p.P121S|SLC3A2_ENST00000377892.1_Missense_Mutation_p.P151S	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	120					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						TGAGTTAGAGCCCGAGAAGCA	0.617											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P121S													.	SLC3A2	55	0			c.C361T						.						32	37	35					11																	62648550		2201	4299	6500	SO:0001583	missense	6520	exon4			TTAGAGCCCGAGA		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.358C>T	11.37:g.62648550C>T	ENSP00000367122:p.Pro120Ser	47	0	1062	40	4	NM_001012662	Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546864	0.86022	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000544377;ENST00000338663;ENST00000539458;ENST00000422606	T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.15	3.18	0.36537	.	0.253032	0.40144	N	0.001169	T	0.72827	0.3509	L	0.31926	0.97	0.34912	D	0.747545	P;P;P;P;D	0.54207	0.86;0.905;0.847;0.702;0.965	B;P;B;B;P	0.49887	0.439;0.487;0.293;0.294;0.625	T	0.79162	-0.1917	10	0.40728	T	0.16	-20.7966	12.3852	0.55328	0.3017:0.6983:0.0:0.0	.	58;89;120;19;151	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	S	151;121;120;121;58;89;19;19;19;19	ENSP00000367124:P151S;ENSP00000367123:P121S;ENSP00000367122:P120S;ENSP00000367121:P58S;ENSP00000444236:P89S;ENSP00000442135:P19S;ENSP00000340815:P19S	ENSP00000340815:P19S	P	+	1	0	SLC3A2	62405126	0.214000	0.23563	0.977000	0.42913	0.975000	0.68041	1.800000	0.38833	1.392000	0.46585	0.561000	0.74099	CCC	.		0.617	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		T	62648550	C	T	62648550	3	4	32	1	0	0	0	0	1	0	0	0	14672	739	26	3	472	3	SLC3A2	11	62648550	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	35923345	62648550	72357966	49	5027											
ANO1	55107	ucsc.edu;bcgsc.ca	37	11	69950201	69950201	+	Missense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:69950201A>T	ENST00000355303.5	+	4	942	c.637A>T	c.(637-639)Agg>Tgg	p.R213W	ANO1_ENST00000530676.1_Missense_Mutation_p.R97W|ANO1_ENST00000398543.2_Missense_Mutation_p.R97W|ANO1_ENST00000316296.5_Missense_Mutation_p.R185W|ANO1_ENST00000538023.1_Missense_Mutation_p.R213W	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	213					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)	GGCTGAGCACAGGCCCCAGAC	0.547																																					p.R213W													.	ANO1	156	0			c.A637T						.						48	50	49					11																	69950201		1901	4107	6008	SO:0001583	missense	55107	exon4			GAGCACAGGCCCC	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.637A>T	11.37:g.69950201A>T	ENSP00000347454:p.Arg213Trp	27	0		15	4	NM_018043	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.158883	0.57368	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000531604;ENST00000316296;ENST00000530676	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.25	1.4	0.22301	.	0.211816	0.41712	D	0.000837	T	0.27278	0.0669	L	0.36672	1.1	0.37817	D	0.928267	D;P	0.67145	0.996;0.946	D;P	0.64410	0.925;0.741	T	0.05484	-1.0882	9	.	.	.	.	7.4689	0.27336	0.506:0.4185:0.0755:0.0	.	185;213	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	W	213;213;97;180;185;97	ENSP00000347454:R213W;ENSP00000444689:R213W;ENSP00000381551:R97W;ENSP00000436392:R180W;ENSP00000319477:R185W;ENSP00000435797:R97W	.	R	+	1	2	ANO1	69627849	0.993000	0.37304	0.995000	0.50966	0.287000	0.27160	0.689000	0.25437	0.277000	0.22141	0.528000	0.53228	AGG	.		0.547	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		T	69950201	A	T	69950201	3	4	32	1	0	0	0	0	1	0	0	0	695	179	7	5	651	5	ANO1	11	69950201	Missense_Mutation	SNP	A	TCGA-ZH-A8Y5-01A-11D-A417-09	7301651	69950201	65056315	50	5028											
MLL	4297	hgsc.bcm.edu	37	11	118344932	118344932	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:118344932G>T	ENST00000389506.5	+	3	3058	c.3058G>T	c.(3058-3060)Gac>Tac	p.D1020Y	KMT2A_ENST00000534358.1_Missense_Mutation_p.D1020Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.D1020Y			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1020					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)										TCCAATGACTGACAAGAGGGT	0.483																																					p.D1020Y		.											.	.	.	0			c.G3058T						.						89	88	88					11																	118344932		2200	4296	6496	SO:0001583	missense	4297	exon3			ATGACTGACAAGA	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.3058G>T	11.37:g.118344932G>T	ENSP00000374157:p.Asp1020Tyr	29	0		35	3	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820500	0.50633	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000527869;ENST00000533790;ENST00000389507	D;T;D;D	0.86497	-2.09;1.74;-2.09;-2.13	5.52	5.52	0.82312	.	0.114120	0.56097	D	0.000021	D	0.91205	0.7229	L	0.40543	1.245	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.77557	0.982;0.956;0.99	D	0.91938	0.5560	10	0.87932	D	0	.	19.4359	0.94794	0.0:0.0:1.0:0.0	.	1020;1020;1053	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	Y	1020;1053;1020;1020;131;98;40	ENSP00000436786:D1020Y;ENSP00000432391:D1053Y;ENSP00000374157:D1020Y;ENSP00000346516:D1020Y	ENSP00000346516:D1020Y	D	+	1	0	MLL	117850142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.588000	0.87417	0.591000	0.81541	GAC	.		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118344932	G	T	118344932	3	4	32	1	0	0	0	0	1	0	0	0	9658	1290	45	3	3068	3	MLL	11	118344932	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	48394731	118344932	16661584	51	5029											
PRDM10	56980	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	129784863	129784863	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:129784863G>T	ENST00000360871.3	-	17	2808	c.2577C>A	c.(2575-2577)ctC>ctA	p.L859L	PRDM10_ENST00000304538.6_Silent_p.L773L|PRDM10_ENST00000528746.1_Silent_p.L833L|PRDM10_ENST00000358825.5_Silent_p.L863L|PRDM10_ENST00000526082.1_Silent_p.L777L|PRDM10_ENST00000423662.2_Silent_p.L777L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	863					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)		TGGTGTTGGAGAGCTGGGCGA	0.478																																					p.L863L		.											.	.	.	0			c.C2589A						.						142	136	138					11																	129784863		2201	4297	6498	SO:0001819	synonymous_variant	56980	exon18			GTTGGAGAGCTGG	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.2577C>A	11.37:g.129784863G>T		22	0		19	4	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																			.		0.478	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		T	129784863	G	T	129784863	2	4	32	1	0	0	0	0	0	0	0	1	12493	929	33	3		3	PRDM10	11	129784863	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	11439931	129784863	5221653	52	5030											
VPS26B	112936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	134113055	134113055	+	Silent	SNP	G	G	C			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr11:134113055G>C	ENST00000281187.5	+	4	1066	c.588G>C	c.(586-588)ctG>ctC	p.L196L	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.L196L	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	196					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TATACTTCCTGCTGGTGAGAA	0.448																																					p.L196L	Colon(171;1263 1952 15904 45703 47982)	.											.	.	.	0			c.G588C						.						138	119	126					11																	134113055		2201	4297	6498	SO:0001819	synonymous_variant	112936	exon4			CTTCCTGCTGGTG		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.588G>C	11.37:g.134113055G>C		52	0		34	9	NM_052875	Q96A55	Silent	SNP	ENST00000281187.5	37	CCDS8495.1																																																																																			.		0.448	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		C	134113055	G	C	134113055	2	2	32	1	0	0	0	0	0	0	0	1	17247	1306	46	5		5	VPS26B	11	134113055	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	4328192	134113055	893461	53	5031											
C12orf5	57103	hgsc.bcm.edu	37	12	4458991	4458991	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr12:4458991C>T	ENST00000179259.4	+	4	266	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	67					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)			TCAGACCATGCATGGAATTTT	0.328																																					p.H67Y	Colon(1;100 192 35375 49454 52532)	.											.	.	.	0			c.C199T						.						84	87	86					12																	4458991		2203	4300	6503	SO:0001583	missense	57103	exon4			ACCATGCATGGAA	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.199C>T	12.37:g.4458991C>T	ENSP00000179259:p.His67Tyr	58	0		79	4	NM_020375	B2R840	Missense_Mutation	SNP	ENST00000179259.4	37	CCDS8525.1	.	.	.	.	.	.	.	.	.	.	C	0.995	-0.692821	0.03303	.	.	ENSG00000078237	ENST00000179259	T	0.72167	-0.63	4.58	1.56	0.23342	Histidine phosphatase superfamily, clade-1 (2);	0.769595	0.12494	N	0.463970	T	0.53642	0.1809	N	0.25332	0.735	0.09310	N	1	P	0.40476	0.718	P	0.44811	0.461	T	0.45396	-0.9264	10	0.06494	T	0.89	-9.489	5.0472	0.14490	0.0:0.4727:0.2403:0.287	.	67	Q9NQ88	TIGAR_HUMAN	Y	67	ENSP00000179259:H67Y	ENSP00000179259:H67Y	H	+	1	0	C12orf5	4329252	0.027000	0.19231	0.857000	0.33713	0.875000	0.50365	0.424000	0.21330	0.671000	0.31185	-0.140000	0.14226	CAT	.		0.328	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		T	4458991	C	T	4458991	3	4	32	1	0	0	0	0	1	0	0	0	1699	710	25	3	213	3	C12orf5	12	4458991	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		4458991	129392904	54	5032											
NDUFA9	4704	hgsc.bcm.edu;bcgsc.ca	37	12	4763523	4763523	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr12:4763523G>T	ENST00000266544.5	+	2	135	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	NDUFA9_ENST00000542369.1_3'UTR|RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	39					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)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GCTTCATCATGCCCTCATGCC	0.512																																					p.A39S	Colon(75;996 1244 23946 25294 29232)	.											.	.	.	0			c.G115T						.						163	143	150					12																	4763523		2203	4300	6503	SO:0001583	missense	4704	exon2			CATCATGCCCTCA	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.115G>T	12.37:g.4763523G>T	ENSP00000266544:p.Ala39Ser	48	0		72	4	NM_005002	Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136266	0.56936	.	.	ENSG00000139180	ENST00000266544;ENST00000535050	T	0.78924	-1.22	5.76	4.86	0.63082	.	0.047558	0.85682	N	0.000000	T	0.73992	0.3658	M	0.64997	1.995	0.80722	D	1	B;B	0.22909	0.077;0.077	B;B	0.24394	0.053;0.053	T	0.68819	-0.5308	10	0.23302	T	0.38	-6.6194	13.4854	0.61361	0.0:0.0:0.7164:0.2836	.	39;39	A8K4V2;Q16795	.;NDUA9_HUMAN	S	39;61	ENSP00000266544:A39S	ENSP00000266544:A39S	A	+	1	0	NDUFA9	4633784	1.000000	0.71417	0.971000	0.41717	0.742000	0.42306	4.867000	0.63013	1.399000	0.46721	0.563000	0.77884	GCC	.		0.512	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		T	4763523	G	T	4763523	3	4	32	1	0	0	0	0	1	0	0	0	10311	1319	46	3	121	3	NDUFA9	12	4763523	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	304532	4763523	129088372	55	5033											
ARID2	196528	hgsc.bcm.edu	37	12	46245336	46245336	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr12:46245336C>T	ENST00000334344.6	+	15	3602	c.3430C>T	c.(3430-3432)Ccc>Tcc	p.P1144S	ARID2_ENST00000444670.1_Missense_Mutation_p.P754S|ARID2_ENST00000422737.1_Missense_Mutation_p.P995S|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1144					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)	p.P1144S(1)		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)		ACAAACTGTGCCCATTTCGAA	0.493			"N, S, F"		hepatocellular carcinoma																																p.P1144S		.		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	ARID2,NS,carcinoma,0,1	ARID2	0	1	Substitution - Missense(1)	ovary(1)	c.C3430T						.						95	91	92					12																	46245336		2203	4300	6503	SO:0001583	missense	196528	exon15			ACTGTGCCCATTT		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.3430C>T	12.37:g.46245336C>T	ENSP00000335044:p.Pro1144Ser	43	0		33	2	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261392	0.39995	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.33865	1.39	5.86	5.86	0.93980	.	0.154543	0.64402	D	0.000016	T	0.28134	0.0694	L	0.27053	0.805	0.80722	D	1	B;B;B	0.33637	0.42;0.42;0.296	B;B;B	0.29176	0.099;0.099;0.027	T	0.03630	-1.1018	10	0.20046	T	0.44	-4.825	20.1931	0.98233	0.0:1.0:0.0:0.0	.	1144;754;1144	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	S	1144;261;261;995;754	ENSP00000335044:P1144S	ENSP00000335044:P1144S	P	+	1	0	ARID2	44531603	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.263000	0.78421	2.771000	0.95319	0.563000	0.77884	CCC	.		0.493	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		T	46245336	C	T	46245336	3	4	32	1	0	0	0	0	1	0	0	0	915	739	26	3	3488	3	ARID2	12	46245336	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	41481813	46245336	87606559	56	5034											
SOAT2	8435	bcgsc.ca	37	12	53509269	53509269	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr12:53509269C>T	ENST00000301466.3	+	6	599	c.539C>T	c.(538-540)gCg>gTg	p.A180V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	180					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACCCTGTTGGCGCCGTACCAG	0.672																																					p.A180V													.	SOAT2	44	0			c.C539T						.						46	46	46					12																	53509269		2203	4300	6503	SO:0001583	missense	8435	exon6			TGTTGGCGCCGTA	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.539C>T	12.37:g.53509269C>T	ENSP00000301466:p.Ala180Val	18	0		15	3	NM_003578	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	5.298	0.240320	0.10023	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.73363	2.59;-0.74	5.61	-10.0	0.00425	.	0.842743	0.10580	N	0.658004	T	0.36936	0.0985	N	0.00742	-1.23	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52208	-0.8606	10	0.02654	T	1	0.0423	21.523	0.99955	0.0:0.1227:0.0:0.8773	.	180	O75908	SOAT2_HUMAN	V	160;180	ENSP00000450120:A160V;ENSP00000301466:A180V	ENSP00000301466:A180V	A	+	2	0	SOAT2	51795536	0.011000	0.17503	0.026000	0.17262	0.695000	0.40330	-0.023000	0.12456	-2.135000	0.00811	-1.105000	0.02106	GCG	.		0.672	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			T	53509269	C	T	53509269	3	4	32	1	0	0	0	0	1	0	0	0	14956	768	27	1	561	1	SOAT2	12	53509269	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	7263933	53509269	80342626	57	5035											
EP400	57634	hgsc.bcm.edu	37	12	132547144	132547144	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr12:132547144G>A	ENST00000333577.4	+	48	8449	c.8340G>A	c.(8338-8340)caG>caA	p.Q2780Q	EP400_ENST00000332482.4_Silent_p.Q2707Q|EP400_ENST00000389561.2_Silent_p.Q2744Q|EP400_ENST00000389562.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2663Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2780	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)			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)		agcaacagcagcagcagcaac	0.607																																					p.Q2744Q		.											EP400,NS,carcinoma,0,1	EP400	0	0			c.G8232A						.						56	45	49					12																	132547144		2203	4300	6503	SO:0001819	synonymous_variant	57634	exon47			ACAGCAGCAGCAG	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.8340G>A	12.37:g.132547144G>A		34	1		12	3	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				.		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547144	G	A	132547144	2	1	32	1	0	0	0	0	0	0	0	1	5165	962	34	3		3	EP400	12	132547144	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	79037875	132547144	1304751	58	5036											
PABPC3	5042	hgsc.bcm.edu	37	13	25671456	25671456	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr13:25671456C>T	ENST00000281589.3	+	1	1157	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	374					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)		CAAAGAAGAGCGCCAGGCTTA	0.493																																					p.R374C		.											PABPC3,colon,carcinoma,-1,1	PABPC3	-1	0			c.C1120T						.						152	137	142					13																	25671456		2203	4300	6503	SO:0001583	missense	5042	exon1			GAAGAGCGCCAGG	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.1120C>T	13.37:g.25671456C>T	ENSP00000281589:p.Arg374Cys	74	0		39	2	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662075	0.47572	.	.	ENSG00000151846	ENST00000281589	T	0.06933	3.24	1.41	1.41	0.22369	.	0.134911	0.32287	U	0.006318	T	0.19967	0.0480	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	P	0.59546	0.859	T	0.01360	-1.1375	10	0.87932	D	0	.	8.3066	0.32047	0.0:1.0:0.0:0.0	.	374	Q9H361	PABP3_HUMAN	C	374	ENSP00000281589:R374C	ENSP00000281589:R374C	R	+	1	0	PABPC3	24569456	1.000000	0.71417	0.898000	0.35279	0.499000	0.33736	5.304000	0.65744	0.759000	0.33084	0.313000	0.20887	CGC	.		0.493	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671456	C	T	25671456	3	4	32	1	0	0	0	0	1	0	0	0	11404	768	27	1	1122	1	PABPC3	13	25671456	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		25671456	89498422	59	5037											
FREM2	341640	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	39454561	39454561	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr13:39454561C>T	ENST00000280481.7	+	24	9363	c.9147C>T	c.(9145-9147)agC>agT	p.S3049S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3049					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)		CCACCAAGAGCCGGAAGAAGA	0.512																																					p.S3049S		.											.	.	.	0			c.C9147T						.						103	98	99					13																	39454561		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon24			CAAGAGCCGGAAG	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.9147C>T	13.37:g.39454561C>T		41	0		29	4	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			.		0.512	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39454561	C	T	39454561	2	4	32	1	0	0	0	0	0	0	0	1	6069	738	26	3		3	FREM2	13	39454561	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	13783105	39454561	75715317	60	5038											
TXNDC16	57544	hgsc.bcm.edu;bcgsc.ca	37	14	52922163	52922163	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr14:52922163G>T	ENST00000281741.4	-	18	2092	c.1721C>A	c.(1720-1722)gCa>gAa	p.A574E	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	574					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)					TGGAAGACTTGCAGCATATTT	0.418																																					p.A574E		.											.	.	.	0			c.C1721A						.						184	153	164					14																	52922163		2203	4300	6503	SO:0001583	missense	57544	exon18			AGACTTGCAGCAT	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.1721C>A	14.37:g.52922163G>T	ENSP00000281741:p.Ala574Glu	38	0		49	4	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236278	0.58886	.	.	ENSG00000087301	ENST00000281741	T	0.32272	1.46	4.98	0.24	0.15489	.	0.628717	0.16800	N	0.199017	T	0.19446	0.0467	N	0.22421	0.69	0.21386	N	0.99971	P;B	0.43542	0.81;0.11	B;B	0.44224	0.444;0.125	T	0.13629	-1.0502	10	0.27785	T	0.31	-38.6582	6.6654	0.23037	0.5947:0.0:0.4053:0.0	.	569;574	B7ZME4;Q9P2K2	.;TXD16_HUMAN	E	574	ENSP00000281741:A574E	ENSP00000281741:A574E	A	-	2	0	TXNDC16	51991913	0.000000	0.05858	0.411000	0.26484	0.924000	0.55760	0.113000	0.15499	0.194000	0.20326	0.563000	0.77884	GCA	.		0.418	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		T	52922163	G	T	52922163	3	4	32	1	0	0	0	0	1	0	0	0	16844	1319	46	3	772	3	TXNDC16	14	52922163	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		52922163	54427377	61	5039											
WDR25	79446	broad.mit.edu;bcgsc.ca	37	14	100847912	100847916	+	Frame_Shift_Del	DEL	GTCTG	GTCTG	-			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr14:100847912_100847916delGTCTG	ENST00000335290.6	+	2	877_881	c.651_655delGTCTG	c.(649-657)gtgtctgagfs	p.SE218fs	WDR25_ENST00000402312.3_Frame_Shift_Del_p.SE218fs|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554175.1_Frame_Shift_Del_p.SE218fs|WDR25_ENST00000554998.1_Frame_Shift_Del_p.SE218fs	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	218								p.E219Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCCCGGGAGTGTCTGAGTTTATTCA	0.571																																					p.217_219del													.	WDR25	37	1	Substitution - Missense(1)	large_intestine(1)	c.651_655del						.																																			SO:0001589	frameshift_variant	79446	exon2			GGGAGTGTCTGAG	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.651_655delGTCTG	14.37:g.100847912_100847916delGTCTG	ENSP00000334148:p.Ser218fs	66	0		18	8	NM_001161476	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Frame_Shift_Del	DEL	ENST00000335290.6	37	CCDS32157.1																																																																																			.		0.571	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		-	100847916	GTCTG	-	100847912	7	5	32	1	0	1	0	1	0	0	0	0	17331	1364	48	0	653	0	WDR25	14	100847912	Frame_Shift_Del	DEL	GTCTG	TCGA-ZH-A8Y5-01A-11D-A417-09	47925749	100847912	6501628	62	5040	45	2									
WDR25	79446	broad.mit.edu;bcgsc.ca	37	14	100847918	100847924	+	Frame_Shift_Del	DEL	GTTTATT	GTTTATT	-			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr14:100847918_100847924delGTTTATT	ENST00000335290.6	+	2	883_889	c.657_663delGTTTATT	c.(655-663)gagtttattfs	p.EFI219fs	WDR25_ENST00000402312.3_Frame_Shift_Del_p.EFI219fs|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554175.1_Frame_Shift_Del_p.EFI219fs|WDR25_ENST00000554998.1_Frame_Shift_Del_p.EFI219fs	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	219								p.E219D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GAGTGTCTGAGTTTATTCAGCCATATT	0.56																																					p.219_221del													WDR25,colon,carcinoma,+2,2	WDR25	37	1	Substitution - Missense(1)	lung(1)	c.657_663del						.																																			SO:0001589	frameshift_variant	79446	exon2			GTCTGAGTTTATT	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.657_663delGTTTATT	14.37:g.100847918_100847924delGTTTATT	ENSP00000334148:p.Glu219fs	65	0		15	9	NM_001161476	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Frame_Shift_Del	DEL	ENST00000335290.6	37	CCDS32157.1																																																																																			.		0.56	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		-	100847924	GTTTATT	-	100847918	7	5	32	1	0	1	0	1	0	0	0	0	17331	1020	36	0	659	0	WDR25	14	100847918	Frame_Shift_Del	DEL	GTTTATT	TCGA-ZH-A8Y5-01A-11D-A417-09	6	100847918	6501622	63	5041	45	2									
AHNAK2	113146	hgsc.bcm.edu	37	14	105415064	105415064	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr14:105415064G>A	ENST00000333244.5	-	7	6843	c.6724C>T	c.(6724-6726)Ccc>Tcc	p.P2242S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2242						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)			TTGAAACTGGGCATCTGCAGC	0.612																																					p.P2242S		.											.	.	.	0			c.C6724T						.						113	122	119					14																	105415064		1859	4112	5971	SO:0001583	missense	113146	exon7			AACTGGGCATCTG	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.6724C>T	14.37:g.105415064G>A	ENSP00000353114:p.Pro2242Ser	79	0		51	4	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	12.09	1.834368	0.32421	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	4.26	4.26	0.50523	.	.	.	.	.	T	0.16811	0.0404	M	0.77486	2.375	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.02617	-1.1133	9	0.52906	T	0.07	.	10.6973	0.45907	0.0:0.0:0.8088:0.1912	.	2242	Q8IVF2	AHNK2_HUMAN	S	2242	ENSP00000353114:P2242S	ENSP00000353114:P2242S	P	-	1	0	AHNAK2	104486109	1.000000	0.71417	0.725000	0.30721	0.010000	0.07245	3.802000	0.55553	1.933000	0.56026	0.485000	0.47835	CCC	.		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105415064	G	A	105415064	3	1	32	1	0	0	0	0	1	0	0	0	415	1203	42	3	10667	3	AHNAK2	14	105415064	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	4567146	105415064	1934476	64	5042											
MAGEL2	54551	hgsc.bcm.edu	37	15	23892486	23892486	+	5'Flank	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr15:23892486G>T	ENST00000532292.1	-	0	0					NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2						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)		GGGAGCTCCGGGAGCTGAAGG	0.711																																					p.P135H		.											.	.	.	0			c.C404A						.						15	20	18					15																	23892486		691	1590	2281	SO:0001631	upstream_gene_variant	54551	exon1			GCTCCGGGAGCTG	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			15.37:g.23892486G>T	Exception_encountered	94	0		70	34	NM_019066		Missense_Mutation	SNP	ENST00000532292.1	37																																																																																				.		0.711	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23892486	G	T	23892486	1	4	32	0	1	0	0	0	0	0	0	0	9227	1232	43	3		3	MAGEL2	15	23892486	5'Flank	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		23892486	78638906	65	5043											
MAPKBP1	23005	hgsc.bcm.edu	37	15	42113096	42113096	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr15:42113096C>T	ENST00000456763.2	+	24	2762	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R733C|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R689C|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R850C|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R850C	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	856										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AAGAAGAGGGCGCTGGGTTCA	0.632																																					p.R856C		.											MAPKBP1,colon,carcinoma,0,1	MAPKBP1	0	0			c.C2566T						.						37	38	37					15																	42113096		2203	4300	6503	SO:0001583	missense	23005	exon24			AGAGGGCGCTGGG	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2566C>T	15.37:g.42113096C>T	ENSP00000393099:p.Arg856Cys	22	0		24	2	NM_001128608	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	29.5	5.014460	0.93404	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.60548	0.47;0.55;0.18;0.51;0.81	5.11	5.11	0.69529	.	0.102146	0.64402	D	0.000001	T	0.68586	0.3017	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;0.999;0.999;0.997;0.998;0.999	T	0.71790	-0.4486	10	0.87932	D	0	-17.85	18.7328	0.91742	0.0:1.0:0.0:0.0	.	689;733;689;850;856;850	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	C	850;733;689;856;850	ENSP00000397570:R850C;ENSP00000221214:R733C;ENSP00000260357:R689C;ENSP00000393099:R856C;ENSP00000426154:R850C	ENSP00000221214:R733C	R	+	1	0	MAPKBP1	39900388	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.028000	0.64115	2.652000	0.90054	0.655000	0.94253	CGC	.		0.632	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		T	42113096	C	T	42113096	3	4	32	1	0	0	0	0	1	0	0	0	9330	768	27	1	2656	1	MAPKBP1	15	42113096	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	18220610	42113096	60418296	66	5044											
PLA2G4F	255189	hgsc.bcm.edu	37	15	42446614	42446614	+	Missense_Mutation	SNP	G	G	T	rs142310375		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr15:42446614G>T	ENST00000382396.4	-	3	313	c.227C>A	c.(226-228)gCg>gAg	p.A76E	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A76E			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	76	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		GCTTGGGGACGCCGTGGGCAG	0.592																																					p.A76E		.											PLA2G4F,right_lower_lobe,carcinoma,0,1	PLA2G4F	0	0			c.C227A						.						51	45	47					15																	42446614		2203	4299	6502	SO:0001583	missense	255189	exon3			GGGGACGCCGTGG		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.227C>A	15.37:g.42446614G>T	ENSP00000371833:p.Ala76Glu	31	0		26	2	NM_213600	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868248	0.91587	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.69926	-0.44;-0.44	5.4	5.4	0.78164	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000005	T	0.80232	0.4585	M	0.62209	1.925	0.44018	D	0.996738	D	0.76494	0.999	D	0.70935	0.971	T	0.81527	-0.0892	10	0.87932	D	0	-18.2086	18.321	0.90238	0.0:0.0:1.0:0.0	.	76	Q68DD2	PA24F_HUMAN	E	72;76;76;76;76	ENSP00000380442:A76E;ENSP00000371833:A76E	ENSP00000290497:A72E	A	-	2	0	PLA2G4F	40233906	1.000000	0.71417	0.265000	0.24526	0.928000	0.56348	7.066000	0.76734	2.717000	0.92951	0.650000	0.86243	GCG	.		0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		T	42446614	G	T	42446614	3	4	32	1	0	0	0	0	1	0	0	0	12045	1087	38	2	2394	2	PLA2G4F	15	42446614	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	333518	42446614	60084778	67	5045											
KIAA1024	23251	broad.mit.edu	37	15	79749365	79749365	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr15:79749365G>T	ENST00000305428.3	+	2	951	c.876G>T	c.(874-876)aaG>aaT	p.K292N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	292						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						AGAGTCGAAAGGAACCCCACA	0.502																																					p.K292N													.	KIAA1024	146	0			c.G876T						.						132	146	141					15																	79749365		2196	4293	6489	SO:0001583	missense	23251	exon2			TCGAAAGGAACCC	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.876G>T	15.37:g.79749365G>T	ENSP00000307461:p.Lys292Asn	32	0		32	3	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386325	0.25031	.	.	ENSG00000169330	ENST00000305428	T	0.37915	1.17	5.01	2.76	0.32466	.	0.066942	0.64402	D	0.000019	T	0.29783	0.0744	M	0.63428	1.95	0.37182	D	0.903532	B	0.12013	0.005	B	0.06405	0.002	T	0.16867	-1.0388	9	.	.	.	.	5.8352	0.18602	0.2353:0.0:0.6085:0.1562	.	292	Q9UPX6	K1024_HUMAN	N	292	ENSP00000307461:K292N	.	K	+	3	2	KIAA1024	77536420	1.000000	0.71417	0.883000	0.34634	0.113000	0.19764	1.205000	0.32308	1.102000	0.41551	0.591000	0.81541	AAG	.		0.502	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79749365	G	T	79749365	3	4	32	1	0	0	0	0	1	0	0	0	8232	991	35	3	878	3	KIAA1024	15	79749365	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	37302751	79749365	22782027	68	5046											
PKD1	5310	hgsc.bcm.edu	37	16	2160404	2160404	+	Silent	SNP	G	G	A	rs376144237		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr16:2160404G>A	ENST00000262304.4	-	15	4972	c.4764C>T	c.(4762-4764)tgC>tgT	p.C1588C	PKD1_ENST00000423118.1_Silent_p.C1588C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1588	PKD 11. {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						GGATGGGCGTGCAGCGGTCAC	0.637																																					p.C1588C		.											.	.	.	0			c.C4764T						.	G	,	0,4382		0,0,2191	54	52	53		4764,4764	4.2	1	16		53	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,1,6483	AA,AG,GG		0.0116,0.0,0.0077	,	1588/4303,1588/4304	2160404	1,12967	2191	4293	6484	SO:0001819	synonymous_variant	5310	exon15			GGGCGTGCAGCGG	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.4764C>T	16.37:g.2160404G>A		61	0		52	4	NM_000296	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			.		0.637	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2160404	G	A	2160404	2	1	32	1	0	0	0	0	0	0	0	1	12002	1311	46	3		3	PKD1	16	2160404	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		2160404	88194349	69	5047											
SALL1	6299	hgsc.bcm.edu	37	16	51173912	51173912	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr16:51173912G>T	ENST00000251020.4	-	2	2254	c.2221C>A	c.(2221-2223)Cgg>Agg	p.R741R	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.R644R|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	741					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.R741W(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)			GTGAAAGCCCGGCCACAGATC	0.547																																					p.R741R	GBM(103;1352 1446 1855 4775 8890)	.											SALL1,NS,carcinoma,0,2	SALL1	0	1	Substitution - Missense(1)	prostate(1)	c.C2221A						.						57	58	58					16																	51173912		2198	4300	6498	SO:0001819	synonymous_variant	6299	exon2			AAGCCCGGCCACA	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.2221C>A	16.37:g.51173912G>T		40	0		41	2	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																			.		0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51173912	G	T	51173912	2	4	32	1	0	0	0	0	0	0	0	1	13855	1115	39	2		2	SALL1	16	51173912	Silent	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	49013508	51173912	39180841	70	5048											
FOXF1	2294	hgsc.bcm.edu	37	16	86544554	86544554	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr16:86544554G>A	ENST00000262426.4	+	1	422	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	127					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CATCGACCCGGCCAGCGAGTT	0.637																																					p.A127T		.											FOXF1_ENST00000262426,NS,carcinoma,0,2	FOXF1_ENST00000262426	0	0			c.G379A						.						70	86	80					16																	86544554		2197	4300	6497	SO:0001583	missense	2294	exon1			GACCCGGCCAGCG	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.379G>A	16.37:g.86544554G>A	ENSP00000262426:p.Ala127Thr	40	0		49	3	NM_001451	B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638389	0.87760	.	.	ENSG00000103241	ENST00000262426	D	0.95482	-3.72	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.191142	0.47093	D	0.000242	D	0.93890	0.8045	L	0.28740	0.885	0.80722	D	1	P	0.46395	0.877	P	0.49953	0.627	D	0.93894	0.7182	10	0.42905	T	0.14	.	16.1868	0.81960	0.0:0.0:1.0:0.0	.	127	Q12946	FOXF1_HUMAN	T	127	ENSP00000262426:A127T	ENSP00000262426:A127T	A	+	1	0	FOXF1	85102055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.379000	0.97198	2.052000	0.61016	0.650000	0.86243	GCC	.		0.637	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		A	86544554	G	A	86544554	3	1	32	1	0	0	0	0	1	0	0	0	6029	1203	42	3	381	3	FOXF1	16	86544554	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	35370642	86544554	3810199	71	5049											
TP53	7157	hgsc.bcm.edu	37	17	7579316	7579316	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr17:7579316C>T	ENST00000269305.4	-	4	560	c.371G>A	c.(370-372)tGc>tAc	p.C124Y	TP53_ENST00000413465.2_Missense_Mutation_p.C124Y|TP53_ENST00000359597.4_Missense_Mutation_p.C124Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C124Y|TP53_ENST00000420246.2_Missense_Mutation_p.C124Y|TP53_ENST00000445888.2_Missense_Mutation_p.C124Y	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	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(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)	ACTGACCGTGCAAGTCACAGA	0.542		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.C124Y	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000413465,NS,carcinoma,+1,4	TP53_ENST00000413465	+1	20	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|ovary(2)|breast(2)|stomach(1)|liver(1)	c.G371A						.						66	62	63					17																	7579316		2203	4300	6503	SO:0001583	missense	7157	exon4	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;	ACCGTGCAAGTCA	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.371G>A	17.37:g.7579316C>T	ENSP00000269305:p.Cys124Tyr	94	0		47	2	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	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730942	0.48939	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.099990	0.64402	D	0.000002	D	0.99351	0.9772	L	0.43152	1.355	0.58432	D	0.999998	D;B;B;B;B;B;D	0.60575	0.988;0.224;0.33;0.006;0.072;0.413;0.972	P;B;B;B;B;P;P	0.61397	0.779;0.151;0.286;0.023;0.212;0.545;0.888	D	0.98218	1.0476	10	0.66056	D	0.02	-11.7577	15.6419	0.77012	0.0:1.0:0.0:0.0	.	85;124;124;124;124;124;124	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	124;124;124;124;124;124;113;124;124	ENSP00000410739:C124Y;ENSP00000352610:C124Y;ENSP00000269305:C124Y;ENSP00000398846:C124Y;ENSP00000391127:C124Y;ENSP00000391478:C124Y;ENSP00000424104:C124Y;ENSP00000426252:C124Y	ENSP00000269305:C124Y	C	-	2	0	TP53	7520041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.379000	0.52440	2.630000	0.89119	0.655000	0.94253	TGC	.		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7579316	C	T	7579316	3	4	32	1	0	0	0	0	1	0	0	0	16429	710	25	3	931	3	TP53	17	7579316	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		7579316	73615894	72	5050											
WRAP53	55135	hgsc.bcm.edu;broad.mit.edu	37	17	7606344	7606344	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr17:7606344C>T	ENST00000316024.5	+	9	3650	c.1302C>T	c.(1300-1302)agC>agT	p.S434S	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000457584.2_Silent_p.S434S|WRAP53_ENST00000396463.2_Silent_p.S434S|WRAP53_ENST00000534050.1_Silent_p.S401S|WRAP53_ENST00000431639.2_Silent_p.S434S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	434					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCAGCACGAGCGGGGCTGTCT	0.632																																					p.S434S		.											WRAP53,NS,carcinoma,0,1	WRAP53	0	0			c.C1302T						.						45	50	48					17																	7606344		2203	4300	6503	SO:0001819	synonymous_variant	55135	exon10			CACGAGCGGGGCT	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1302C>T	17.37:g.7606344C>T		16	0		23	3	NM_001143991	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	CCDS11119.1																																																																																			.		0.632	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		T	7606344	C	T	7606344	2	4	32	1	0	0	0	0	0	0	0	1	17449	767	27	1		1	WRAP53	17	7606344	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	27028	7606344	73588866	73	5051											
RHBDL3	162494	hgsc.bcm.edu	37	17	30621346	30621346	+	Missense_Mutation	SNP	G	G	T	rs138890553		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr17:30621346G>T	ENST00000269051.4	+	5	567	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	RHBDL3_ENST00000536287.1_Missense_Mutation_p.G87C|RHBDL3_ENST00000538145.1_Missense_Mutation_p.G177C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	185						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGTGTCACTAGGTCAATTTGT	0.493																																					p.G185C		.											RHBDL3,NS,carcinoma,0,1	RHBDL3	0	0			c.G553T						.	G	CYS/GLY	0,4406		0,0,2203	240	195	210		553	1.7	0.4	17	dbSNP_134	210	2,8598	2.2+/-6.3	0,2,4298	no	missense	RHBDL3	NM_138328.2	159	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging	185/405	30621346	2,13004	2203	4300	6503	SO:0001583	missense	162494	exon5			TCACTAGGTCAAT	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.553G>T	17.37:g.30621346G>T	ENSP00000269051:p.Gly185Cys	55	0		50	2	NM_138328	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978520	0.53720	0.0	2.33E-4	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.67345	-0.26;0.31;0.73;1.33	6.17	1.69	0.24217	.	0.483471	0.25363	N	0.031202	T	0.59985	0.2234	L	0.39245	1.2	0.37787	D	0.927226	D;P;P	0.57257	0.979;0.806;0.806	P;B;B	0.46975	0.533;0.332;0.332	T	0.63395	-0.6647	10	0.66056	D	0.02	-17.0001	10.8363	0.46690	0.2629:0.0:0.7371:0.0	.	185;177;185	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	C	185;185;177;87	ENSP00000394849:G185C;ENSP00000269051:G185C;ENSP00000442092:G177C;ENSP00000466508:G87C	ENSP00000269051:G185C	G	+	1	0	RHBDL3	27645459	1.000000	0.71417	0.425000	0.26659	0.924000	0.55760	2.747000	0.47475	0.109000	0.17891	0.655000	0.94253	GGT	0.000		0.493	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		T	30621346	G	T	30621346	3	4	32	1	0	0	0	0	1	0	0	0	13368	1000	35	3	571	3	RHBDL3	17	30621346	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	23015002	30621346	50573864	74	5052											
PIP4K2B	8396	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	36925956	36925956	+	Missense_Mutation	SNP	G	G	T	rs549240348		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr17:36925956G>T	ENST00000269554.3	-	10	1719	c.1239C>A	c.(1237-1239)aaC>aaA	p.N413K		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	413	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						ACGTCAGGATGTTGGACATAA	0.522																																					p.N413K		.											.	.	.	0			c.C1239A						.						205	193	197					17																	36925956		2203	4300	6503	SO:0001583	missense	8396	exon10			CAGGATGTTGGAC	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.1239C>A	17.37:g.36925956G>T	ENSP00000269554:p.Asn413Lys	67	0		42	4	NM_003559	Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699311	0.48307	.	.	ENSG00000141720	ENST00000269554	T	0.32515	1.45	5.89	5.89	0.94794	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	N	0.17764	0.52	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.05937	-1.0855	10	0.05620	T	0.96	-32.4576	13.1242	0.59344	0.0769:0.0:0.9231:0.0	.	413	P78356	PI42B_HUMAN	K	413	ENSP00000269554:N413K	ENSP00000269554:N413K	N	-	3	2	PIP4K2B	34179482	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.406000	0.59748	2.793000	0.96121	0.655000	0.94253	AAC	.		0.522	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		T	36925956	G	T	36925956	3	4	32	1	0	0	0	0	1	0	0	0	11976	1368	48	3	15	3	PIP4K2B	17	36925956	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	6304610	36925956	44269254	75	5053											
CACNA1G	8913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	48684279	48684279	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr17:48684279G>A	ENST00000359106.5	+	24	4441	c.4441G>A	c.(4441-4443)Gtt>Att	p.V1481I	CACNA1G_ENST00000510115.1_Missense_Mutation_p.V1458I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.V1458I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.V1458I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.V1458I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.V1481I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.V1458I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.V1458I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.V1481I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.V1481I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.V1481I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.V1458I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.V1458I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1481					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)	GTCCCTGTTCGTTTTGGCCTC	0.572																																					p.V1481I		.											.	.	.	0			c.G4441A						.						133	128	130					17																	48684279		2119	4222	6341	SO:0001583	missense	8913	exon24			CTGTTCGTTTTGG	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.4441G>A	17.37:g.48684279G>A	ENSP00000352011:p.Val1481Ile	28	0		33	9	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	.	.	.	.	.	.	.	.	.	.	g	34	5.350270	0.95830	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	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	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	5.64	5.64	0.86602	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.64260	1.97	0.80722	D	1	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	0.89917	0.999;0.996;1.0;0.999;0.996;1.0;1.0;0.993;0.999;0.996;1.0;0.999;0.998;0.997;0.999;0.998;1.0;0.999;0.967;1.0;1.0;0.998;0.998;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.91635	0.981;0.979;0.999;0.997;0.99;0.998;0.997;0.989;0.998;0.987;0.999;0.998;0.97;0.952;0.998;0.988;0.995;0.964;0.705;0.998;0.999;0.987;0.974;0.998;0.988;0.995	D	0.98498	1.0613	10	0.54805	T	0.06	.	19.7167	0.96124	0.0:0.0:1.0:0.0	.	511;1458;1481;1481;1481;1481;1481;1481;1481;1481;1481;1481;1458;1481;1481;1481;1481;1481;1458;1481;1458;1458;1458;1458;1481;1458	B4DKD3;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	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	I	1458;1458;1458;1458;1458;1481;1481;1458;1481;1481;1481;1481;1481;1481;1458;1481;1481;1481;1481;1458;1481;1481;1481;1481;1481;296	ENSP00000353990:V1458I;ENSP00000339302:V1458I;ENSP00000347078:V1458I;ENSP00000409759:V1458I;ENSP00000425522:V1458I;ENSP00000426261:V1481I;ENSP00000425451:V1481I;ENSP00000422407:V1458I;ENSP00000426814:V1481I;ENSP00000427238:V1481I;ENSP00000423112:V1481I;ENSP00000420918:V1481I;ENSP00000426172:V1481I;ENSP00000423045:V1481I;ENSP00000427173:V1458I;ENSP00000426098:V1481I;ENSP00000425698:V1481I;ENSP00000426232:V1481I;ENSP00000423317:V1481I;ENSP00000350979:V1458I;ENSP00000352011:V1481I;ENSP00000414388:V1481I;ENSP00000423155:V1481I;ENSP00000422268:V1481I;ENSP00000421518:V1481I;ENSP00000427697:V296I	ENSP00000339302:V1458I	V	+	1	0	CACNA1G	46039278	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	9.869000	0.99810	2.667000	0.90743	0.655000	0.94253	GTT	.		0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48684279	G	A	48684279	3	1	32	1	0	0	0	0	1	0	0	0	2551	1145	40	1	4781	1	CACNA1G	17	48684279	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	11758323	48684279	32510931	76	5054											
LPIN2	9663	broad.mit.edu	37	18	2937759	2937759	+	Missense_Mutation	SNP	C	C	A	rs540544894		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr18:2937759C>A	ENST00000261596.4	-	7	1337	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	367					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTAAGGCTGCGTTGGGAAGG	0.493																																					p.A367S													.	LPIN2	75	0			c.G1099T						.						82	80	81					18																	2937759		2203	4300	6503	SO:0001583	missense	9663	exon7			AGGCTGCGTTGGG	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1099G>T	18.37:g.2937759C>A	ENSP00000261596:p.Ala367Ser	49	0		22	3	NM_014646	A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.074466	0.00036	.	.	ENSG00000101577	ENST00000261596	T	0.80214	-1.35	5.74	3.93	0.45458	.	0.864816	0.10481	N	0.669546	T	0.49847	0.1581	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48019	-0.9071	10	0.07030	T	0.85	.	4.832	0.13445	0.117:0.1247:0.63:0.1283	.	367	Q92539	LPIN2_HUMAN	S	367	ENSP00000261596:A367S	ENSP00000261596:A367S	A	-	1	0	LPIN2	2927759	0.001000	0.12720	0.241000	0.24154	0.030000	0.12068	0.268000	0.18571	1.450000	0.47717	-0.120000	0.15030	GCA	.		0.493	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		A	2937759	C	A	2937759	3	1	32	1	0	0	0	0	1	0	0	0	8954	768	27	2	1647	2	LPIN2	18	2937759	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		2937759	75139489	77	5055											
ANKRD12	23253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	9254584	9254584	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr18:9254584C>G	ENST00000262126.4	+	9	1559	c.1319C>G	c.(1318-1320)tCt>tGt	p.S440C	ANKRD12_ENST00000383440.2_Missense_Mutation_p.S417C|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S417C	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	440						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAAAGATTTCTACTTCATGT	0.318																																					p.S440C		.											.	.	.	0			c.C1319G						.						64	75	71					18																	9254584		2202	4294	6496	SO:0001583	missense	23253	exon9			AGATTTCTACTTC	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1319C>G	18.37:g.9254584C>G	ENSP00000262126:p.Ser440Cys	141	0		34	26	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538159	0.27475	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	T;T	0.06142	3.35;3.34	5.86	5.86	0.93980	.	0.357498	0.33199	N	0.005178	T	0.11367	0.0277	L	0.50333	1.59	0.23254	N	0.998038	D;D;P	0.60575	0.988;0.969;0.948	P;P;B	0.53360	0.724;0.614;0.41	T	0.27502	-1.0072	10	0.37606	T	0.19	-15.9131	7.682	0.28520	0.0:0.8085:0.0:0.1915	.	67;417;440	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	C	417;440;147	ENSP00000372932:S417C;ENSP00000262126:S440C	ENSP00000262126:S440C	S	+	2	0	ANKRD12	9244584	1.000000	0.71417	0.566000	0.28421	0.975000	0.68041	5.189000	0.65098	2.771000	0.95319	0.650000	0.86243	TCT	.		0.318	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		G	9254584	C	G	9254584	3	3	32	1	0	0	0	0	1	0	0	0	640	913	32	5	1349	5	ANKRD12	18	9254584	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	6316825	9254584	68822664	78	5056											
C18orf25	147339	hgsc.bcm.edu	37	18	43833705	43833705	+	Missense_Mutation	SNP	G	G	C	rs370787556		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr18:43833705G>C	ENST00000282059.6	+	4	1315	c.941G>C	c.(940-942)gGc>gCc	p.G314A	C18orf25_ENST00000321319.6_Missense_Mutation_p.G253A	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	314										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AAAACATCTGGCAATGCGCCA	0.403																																					p.G314A		.											.,1	.	27	0			c.G941C						.						127	117	120					18																	43833705		1867	4091	5958	SO:0001583	missense	147339	exon4			CATCTGGCAATGC	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.941G>C	18.37:g.43833705G>C	ENSP00000282059:p.Gly314Ala	90	1		101	5	NM_145055	A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	G	7.249	0.602752	0.13939	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	4.88	4.88	0.63580	.	0.277861	0.34110	N	0.004252	T	0.42359	0.1199	L	0.29908	0.895	0.40975	D	0.984731	B;B	0.30914	0.002;0.3	B;B	0.29785	0.006;0.107	T	0.38351	-0.9665	9	0.02654	T	1	-6.069	16.5472	0.84450	0.0:0.0:1.0:0.0	.	253;314	Q96B23-2;Q96B23	.;CR025_HUMAN	A	314;253	.	ENSP00000282059:G314A	G	+	2	0	C18orf25	42087703	1.000000	0.71417	0.250000	0.24296	0.003000	0.03518	5.274000	0.65569	2.407000	0.81776	0.585000	0.79938	GGC	.		0.403	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		C	43833705	G	C	43833705	3	2	32	1	0	0	0	0	1	0	0	0	1906	1203	42	5	951	5	C18orf25	18	43833705	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	34579121	43833705	34243543	79	5057											
ZBTB7A	51341	hgsc.bcm.edu	37	19	4053996	4053996	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:4053996C>T	ENST00000322357.4	-	2	1513	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.C412Y	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	412					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|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)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGATGTTGCACTCGTAGGG	0.687																																					p.C412Y		.											ZBTB7A,colon,carcinoma,0,1	ZBTB7A	0	0			c.G1235A						.						54	48	50					19																	4053996		2203	4299	6502	SO:0001583	missense	51341	exon2			ATGTTGCACTCGT	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1235G>A	19.37:g.4053996C>T	ENSP00000323670:p.Cys412Tyr	36	0		34	2	NM_015898	D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039668	0.75732	.	.	ENSG00000178951	ENST00000322357	D	0.85088	-1.94	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.93150	3.385	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95786	0.8821	10	0.87932	D	0	.	16.7416	0.85461	0.0:1.0:0.0:0.0	.	412	O95365	ZBT7A_HUMAN	Y	412	ENSP00000323670:C412Y	ENSP00000323670:C412Y	C	-	2	0	ZBTB7A	4004996	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.673000	0.83973	2.293000	0.77203	0.462000	0.41574	TGC	.		0.687	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		T	4053996	C	T	4053996	3	4	32	1	0	0	0	0	1	0	0	0	17601	710	25	3	527	3	ZBTB7A	19	4053996	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09		4053996	55074987	80	5058											
PTPRS	5802	hgsc.bcm.edu	37	19	5218452	5218452	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:5218452G>T	ENST00000587303.1	-	24	4126	c.4027C>A	c.(4027-4029)Cgc>Agc	p.R1343S	PTPRS_ENST00000357368.4_Missense_Mutation_p.R1343S|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1344S|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1339S|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1321S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1321S|PTPRS_ENST00000592099.1_Missense_Mutation_p.R912S|PTPRS_ENST00000353284.2_Missense_Mutation_p.R912S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1343					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)	AAGTTAATGCGTCTCATTTCC	0.562																																					p.R1343S		.											PTPRS,colon,carcinoma,+1,1	PTPRS	+1	0			c.C4027A						.						218	200	206					19																	5218452		2203	4300	6503	SO:0001583	missense	5802	exon25			TAATGCGTCTCAT	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.4027C>A	19.37:g.5218452G>T	ENSP00000467537:p.Arg1343Ser	39	1		32	2	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807387	0.70797	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.56941	0.61;0.61;0.55;0.43;0.52	4.3	4.3	0.51218	.	0.000000	0.64402	U	0.000006	T	0.75481	0.3855	M	0.88181	2.935	0.80722	D	1	D;D;D;P;D;D	0.89917	0.999;0.983;1.0;0.85;1.0;1.0	D;P;D;P;D;D	0.91635	0.989;0.904;0.999;0.532;0.999;0.998	T	0.81002	-0.1130	10	0.87932	D	0	.	13.5638	0.61806	0.0:0.0:0.8441:0.1559	.	925;912;916;1321;1343;938	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	938;1344;1343;1343;1334;1339;1321;925;916;912	ENSP00000361489:R1344S;ENSP00000349932:R1343S;ENSP00000262963:R1339S;ENSP00000269907:R1321S;ENSP00000327313:R912S	ENSP00000262963:R1339S	R	-	1	0	PTPRS	5169452	1.000000	0.71417	0.987000	0.45799	0.930000	0.56654	4.882000	0.63121	2.232000	0.73038	0.561000	0.74099	CGC	.		0.562	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			T	5218452	G	T	5218452	3	4	32	1	0	0	0	0	1	0	0	0	12856	1145	40	2	1875	2	PTPRS	19	5218452	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	1164456	5218452	53910531	81	5059											
ZNF85	7639	hgsc.bcm.edu	37	19	21132556	21132556	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:21132556C>A	ENST00000328178.8	+	4	1349	c.1236C>A	c.(1234-1236)acC>acA	p.T412T	ZNF85_ENST00000345030.6_Silent_p.T379T|ZNF85_ENST00000601023.1_Silent_p.T353T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	412					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)	p.T412T(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ACTCTTCAACCCTTACTAAAC	0.308																																					p.T442T		.											ZNF85,NS,carcinoma,0,1	ZNF85	0	1	Substitution - coding silent(1)	lung(1)	c.C1326A						.						29	31	30					19																	21132556		2200	4293	6493	SO:0001819	synonymous_variant	7639	exon5			TTCAACCCTTACT	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.1236C>A	19.37:g.21132556C>A		61	0		39	3	NM_001256171	B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	CCDS32977.1																																																																																			.		0.308	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		A	21132556	C	A	21132556	2	1	32	1	0	0	0	0	0	0	0	1	18241	610	22	3		3	ZNF85	19	21132556	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	15914104	21132556	37996427	82	5060											
DPY19L3	147991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	32930122	32930122	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:32930122A>G	ENST00000342179.5	+	7	916	c.701A>G	c.(700-702)aAc>aGc	p.N234S	DPY19L3_ENST00000586987.1_Missense_Mutation_p.N234S|DPY19L3_ENST00000392250.2_Missense_Mutation_p.N234S	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	234						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)					CTGAGACCAAACTTACAGCCT	0.363																																					p.N234S		.											.	.	.	0			c.A701G						.						123	122	122					19																	32930122		2203	4300	6503	SO:0001583	missense	147991	exon7			GACCAAACTTACA		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.701A>G	19.37:g.32930122A>G	ENSP00000344937:p.Asn234Ser	118	0		80	11	NM_001172774	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.516860	0.44763	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.54866	0.55;0.55	5.66	4.64	0.57946	.	0.310059	0.36200	N	0.002734	T	0.41789	0.1174	L	0.38838	1.175	0.33619	D	0.604546	B	0.28783	0.222	B	0.33960	0.173	T	0.50101	-0.8867	10	0.15066	T	0.55	-7.8164	11.0498	0.47880	0.9279:0.0:0.0721:0.0	.	234	Q6ZPD9	D19L3_HUMAN	S	234	ENSP00000376081:N234S;ENSP00000344937:N234S	ENSP00000315672:N234S	N	+	2	0	DPY19L3	37621962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.702000	0.68332	2.163000	0.67991	0.460000	0.39030	AAC	.		0.363	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		G	32930122	A	G	32930122	3	3	32	1	0	0	0	0	1	0	0	0	4756	43	2	4	723	4	DPY19L3	19	32930122	Missense_Mutation	SNP	A	TCGA-ZH-A8Y5-01A-11D-A417-09	11797566	32930122	26198861	83	5061											
ZNF30	90075	hgsc.bcm.edu	37	19	35434870	35434870	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:35434870C>T	ENST00000601142.1	+	5	1237	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.H335Y|ZNF30_ENST00000426813.2_Missense_Mutation_p.H253Y|ZNF30_ENST00000303586.7_Missense_Mutation_p.H335Y			P17039	ZNF30_HUMAN	zinc finger protein 30	334					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)		GCTTACTCGACATCAGAGTAT	0.438																																					p.H335Y		.											ZNF30,colon,carcinoma,0,1	ZNF30	0	0			c.C1003T						.						93	100	98					19																	35434870		2203	4300	6503	SO:0001583	missense	90075	exon5			ACTCGACATCAGA	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.1000C>T	19.37:g.35434870C>T	ENSP00000469954:p.His334Tyr	41	0		35	2	NM_001099438	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057464	0.55325	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	D;D	0.86769	-2.17;-2.17	2.23	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94905	0.8353	H	0.96015	3.755	0.27950	N	0.937183	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87212	0.2248	9	0.87932	D	0	.	10.1036	0.42519	0.0:1.0:0.0:0.0	.	335;334	P17039-2;P17039	.;ZNF30_HUMAN	Y	335;334;253;71	ENSP00000403441:H335Y;ENSP00000416457:H253Y	ENSP00000303889:H334Y	H	+	1	0	ZNF30	40126710	0.977000	0.34250	0.007000	0.13788	0.015000	0.08874	2.735000	0.47377	1.243000	0.43853	0.404000	0.27445	CAT	.		0.438	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		T	35434870	C	T	35434870	3	4	32	1	0	0	0	0	1	0	0	0	17878	478	17	3	1017	3	ZNF30	19	35434870	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	2504748	35434870	23694113	84	5062											
FFAR3	2865	broad.mit.edu;bcgsc.ca	37	19	35850647	35850647	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:35850647C>T	ENST00000327809.4	+	2	1056	c.855C>T	c.(853-855)gcC>gcT	p.A285A	FFAR3_ENST00000594310.1_Silent_p.A285A	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	285					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGTTCCAAGCCGACTTTCATG	0.597																																					p.A285A	Esophageal Squamous(185;1742 2042 21963 24215 27871)												.	FFAR3	40	0			c.C855T						.						54	40	45					19																	35850647		2200	4274	6474	SO:0001819	synonymous_variant	2865	exon2			CCAAGCCGACTTT	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.855C>T	19.37:g.35850647C>T		113	1		91	28	NM_005304	B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	CCDS12459.1																																																																																			.		0.597	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		T	35850647	C	T	35850647	2	4	32	1	0	0	0	0	0	0	0	1	5851	639	23	1		1	FFAR3	19	35850647	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	415777	35850647	23278336	85	5063											
U2AF1L4	199746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36233568	36233568	+	3'UTR	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:36233568C>T	ENST00000412391.2	-	0	728				PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|U2AF1L4_ENST00000292879.5_Silent_p.Q180Q|IGFLR1_ENST00000592537.1_5'Flank|U2AF1L4_ENST00000378975.3_3'UTR|PSENEN_ENST00000591949.1_5'Flank|AD000671.6_ENST00000589807.1_Intron|IGFLR1_ENST00000344990.3_5'Flank|IGFLR1_ENST00000587101.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGAGGTCCTGCCAGGAAC	0.592																																					p.Q180Q		.											.	.	.	0			c.G540A						.						83	95	91					19																	36233568		2203	4300	6503	SO:0001624	3_prime_UTR_variant	199746	exon6			GAGGTCCTGCCAG	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"RNA binding motif (RRM) containing"	23020	protein-coding gene	gene with protein product		601080	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 3", "U2 small nuclear RNA auxiliary factor 1-like 3"	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.*52G>A	19.37:g.36233568C>T		31	0		41	16	NM_144987	A6NKI8|Q56UU3	Silent	SNP	ENST00000412391.2	37																																																																																				.		0.592	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		T	36233568	C	T	36233568	1	4	32	0	1	0	0	0	0	0	0	0	16871	680	24	3		3	U2AF1L4	19	36233568	3'UTR	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	382921	36233568	22895415	86	5064											
DKKL1	27120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	49878126	49878126	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:49878126C>T	ENST00000221498.2	+	5	975	c.570C>T	c.(568-570)ctC>ctT	p.L190L	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Silent_p.L48L	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	190					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)		GCCACTGGCTCAGCGAGAAGC	0.647																																					p.L190L		.											.	.	.	0			c.C570T						.						27	30	29					19																	49878126		2203	4300	6503	SO:0001819	synonymous_variant	27120	exon5			CTGGCTCAGCGAG	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.570C>T	19.37:g.49878126C>T		49	0		29	11	NM_014419		Silent	SNP	ENST00000221498.2	37	CCDS12762.1																																																																																			.		0.647	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		T	49878126	C	T	49878126	2	4	32	1	0	0	0	0	0	0	0	1	4562	813	29	3		3	DKKL1	19	49878126	Silent	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	13644558	49878126	9250857	87	5065											
LIM2	3982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	51890594	51890594	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:51890594C>T	ENST00000596399.1	-	2	151	c.104G>A	c.(103-105)gGg>gAg	p.G35E	LIM2_ENST00000221973.3_Missense_Mutation_p.G35E	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	35					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGCGAAGGACCCTGACAGCCG	0.652																																					p.G35E		.											.	.	.	0			c.G104A						.						67	64	65					19																	51890594		2203	4300	6503	SO:0001583	missense	3982	exon2			AAGGACCCTGACA		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.104G>A	19.37:g.51890594C>T	ENSP00000472090:p.Gly35Glu	20	0		23	8	NM_001161748	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623935	0.87460	.	.	ENSG00000105370	ENST00000221973	D	0.90069	-2.61	4.97	4.97	0.65823	.	0.106283	0.64402	D	0.000005	D	0.93556	0.7943	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.941;0.999	D	0.93183	0.6576	10	0.42905	T	0.14	-12.4022	15.7209	0.77710	0.0:1.0:0.0:0.0	.	35;35	P55344;P55344-2	LMIP_HUMAN;.	E	35	ENSP00000221973:G35E	ENSP00000221973:G35E	G	-	2	0	LIM2	56582406	0.987000	0.35691	0.974000	0.42286	0.961000	0.63080	5.098000	0.64548	2.299000	0.77371	0.561000	0.74099	GGG	.		0.652	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		T	51890594	C	T	51890594	3	4	32	1	0	0	0	0	1	0	0	0	8824	623	22	3	559	3	LIM2	19	51890594	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	2012468	51890594	7238389	88	5066											
ZNF649	65251	broad.mit.edu	37	19	52395140	52395140	+	Missense_Mutation	SNP	T	T	G			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:52395140T>G	ENST00000354957.3	-	5	533	c.249A>C	c.(247-249)aaA>aaC	p.K83N	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.K83N	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	83					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)		GATCATCAGCTTTCTCAATTT	0.408																																					p.K83N													.	ZNF649	72	0			c.A249C						.						82	79	80					19																	52395140		2203	4300	6503	SO:0001583	missense	65251	exon5			ATCAGCTTTCTCA	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.249A>C	19.37:g.52395140T>G	ENSP00000347043:p.Lys83Asn	35	0		34	3	NM_023074	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496921	0.26861	.	.	ENSG00000198093	ENST00000354957	T	0.06608	3.28	2.49	2.49	0.30216	.	.	.	.	.	T	0.08133	0.0203	L	0.37697	1.125	0.09310	N	1	D	0.64830	0.994	P	0.51516	0.672	T	0.31024	-0.9958	9	0.31617	T	0.26	.	5.5982	0.17339	0.0:0.0:0.2851:0.7148	.	83	Q9BS31	ZN649_HUMAN	N	83	ENSP00000347043:K83N	ENSP00000347043:K83N	K	-	3	2	ZNF649	57086952	0.000000	0.05858	0.002000	0.10522	0.336000	0.28762	-0.088000	0.11198	1.150000	0.42419	0.332000	0.21555	AAA	.		0.408	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		G	52395140	T	G	52395140	3	3	32	1	0	0	0	0	1	0	0	0	18112	1606	56	4	1272	4	ZNF649	19	52395140	Missense_Mutation	SNP	T	TCGA-ZH-A8Y5-01A-11D-A417-09	504546	52395140	6733843	89	5067											
NLRP8	126205	broad.mit.edu	37	19	56467321	56467321	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr19:56467321G>T	ENST00000291971.3	+	3	1968	c.1897G>T	c.(1897-1899)Gtc>Ttc	p.V633F	NLRP8_ENST00000590542.1_Missense_Mutation_p.V633F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	633					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)		TCATAAAGTTGTCTTGAGAAT	0.463																																					p.V633F													.	NLRP8	225	0			c.G1897T						.						124	116	119					19																	56467321		2203	4300	6503	SO:0001583	missense	126205	exon3			AAAGTTGTCTTGA	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.1897G>T	19.37:g.56467321G>T	ENSP00000291971:p.Val633Phe	57	1		57	3	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413205	0.25465	.	.	ENSG00000179709	ENST00000291971	D	0.87571	-2.27	2.03	-3.94	0.04130	.	.	.	.	.	T	0.81631	0.4863	L	0.46157	1.445	0.09310	N	1	P;B	0.42785	0.79;0.08	P;B	0.44990	0.466;0.029	T	0.72481	-0.4280	9	0.54805	T	0.06	.	4.7461	0.13038	0.2735:0.2128:0.5137:0.0	.	633;633	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	633	ENSP00000291971:V633F	ENSP00000291971:V633F	V	+	1	0	NLRP8	61159133	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.168000	0.00574	-1.137000	0.02888	-0.507000	0.04495	GTC	.		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56467321	G	T	56467321	3	4	32	1	0	0	0	0	1	0	0	0	10522	1377	48	3	1907	3	NLRP8	19	56467321	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	4072181	56467321	2661662	90	5068											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47569405	47569405	+	Missense_Mutation	SNP	G	G	A	rs572333257		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr20:47569405G>A	ENST00000371917.4	+	5	587	c.587G>A	c.(586-588)cGc>cAc	p.R196H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	196	DCB; DCB:DCB domain and DCB:HUS domain interaction.				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)	p.R196H(1)		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)			ATTTTCACCCGCATGGAAAAC	0.453																																					p.R196H	Esophageal Squamous(176;1738 1974 26285 33069 35354)	.											ARFGEF2,NS,carcinoma,-1,1	ARFGEF2	-1	1	Substitution - Missense(1)	breast(1)	c.G587A						.						97	88	91					20																	47569405		2203	4300	6503	SO:0001583	missense	10564	exon5			TCACCCGCATGGA	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.587G>A	20.37:g.47569405G>A	ENSP00000360985:p.Arg196His	25	0		62	3	NM_006420	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555635	0.96514	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.52295	0.67	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.82680	-0.0337	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	196	Q9Y6D5	BIG2_HUMAN	H	196	ENSP00000360985:R196H	ENSP00000360985:R196H	R	+	2	0	ARFGEF2	47002812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.857000	0.99534	2.882000	0.98803	0.655000	0.94253	CGC	.		0.453	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47569405	G	A	47569405	3	1	32	1	0	0	0	0	1	0	0	0	853	1087	38	1	605	1	ARFGEF2	20	47569405	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09		47569405	15456115	91	5069											
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	60887332	60887332	+	Missense_Mutation	SNP	C	C	A	rs535545260		TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr20:60887332C>A	ENST00000252999.3	-	69	9467	c.9401G>T	c.(9400-9402)cGc>cTc	p.R3134L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3134	Laminin G-like 3. {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)			GAGCGCCAGGCGAAGGAAGCC	0.682																																					p.R3134L		.											.	.	.	0			c.G9401T						.						33	35	34					20																	60887332		2190	4291	6481	SO:0001583	missense	3911	exon69			GCCAGGCGAAGGA	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.9401G>T	20.37:g.60887332C>A	ENSP00000252999:p.Arg3134Leu	15	0		22	7	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	3.824	-0.037189	0.07497	.	.	ENSG00000130702	ENST00000252999	T	0.41400	1.0	4.06	-1.67	0.08238	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.792234	0.11846	N	0.523827	T	0.22244	0.0536	L	0.27053	0.805	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.15435	-1.0437	10	0.36615	T	0.2	.	1.6352	0.02740	0.1515:0.2622:0.3368:0.2496	.	3134	O15230	LAMA5_HUMAN	L	3134	ENSP00000252999:R3134L	ENSP00000252999:R3134L	R	-	2	0	LAMA5	60320727	0.002000	0.14202	0.344000	0.25628	0.002000	0.02628	0.708000	0.25719	-0.352000	0.08237	-2.393000	0.00227	CGC	.		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60887332	C	A	60887332	3	1	32	1	0	0	0	0	1	0	0	0	8637	768	27	2	1734	2	LAMA5	20	60887332	Missense_Mutation	SNP	C	TCGA-ZH-A8Y5-01A-11D-A417-09	13317927	60887332	2138188	92	5070											
RNF160	26046	hgsc.bcm.edu	37	21	30339206	30339206	+	Missense_Mutation	SNP	T	T	A	rs560176639	byFrequency	TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr21:30339206T>A	ENST00000361371.5	-	10	1686	c.1607A>T	c.(1606-1608)aAt>aTt	p.N536I	LTN1_ENST00000389194.2_Missense_Mutation_p.N582I|LTN1_ENST00000389195.2_Missense_Mutation_p.N582I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	536					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N536fs*33(1)		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						AACCTTACCATTTTTTTTTTT	0.378																																					p.N582I		.											LTN1,colon,carcinoma,+1,6	LTN1	+1	1	Deletion - Frameshift(1)	ovary(1)	c.A1745T						.						50	47	48					21																	30339206		2203	4300	6503	SO:0001583	missense	26046	exon10			TTACCATTTTTTT	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.1607A>T	21.37:g.30339206T>A	ENSP00000354977:p.Asn536Ile	47	1		45	2	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	T	11.32	1.603025	0.28534	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.23348	2.24;2.25;1.91	5.02	-4.43	0.03568	Armadillo-type fold (1);	0.777959	0.12592	N	0.455504	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16778	-1.0391	10	0.40728	T	0.16	.	1.5733	0.02619	0.2505:0.0857:0.2706:0.3933	.	536	O94822	LTN1_HUMAN	I	582;536;582	ENSP00000373846:N582I;ENSP00000354977:N536I;ENSP00000373847:N582I	ENSP00000354977:N536I	N	-	2	0	LTN1	29261077	0.000000	0.05858	0.001000	0.08648	0.814000	0.46013	-0.245000	0.08890	-0.844000	0.04184	0.528000	0.53228	AAT	.		0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		A	30339206	T	A	30339206	3	1	32	1	0	0	0	0	1	0	0	0	13500	1493	52	5	3777	5	RNF160	21	30339206	Missense_Mutation	SNP	T	TCGA-ZH-A8Y5-01A-11D-A417-09		30339206	17790689	93	5071											
PDE9A	5152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	44189140	44189140	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y5-01A-11D-A417-09	TCGA-ZH-A8Y5-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	85df6bba-88a3-4a2a-9233-157b59947c23	14be0260-55ec-4801-b29f-15ddeb9b79bb	g.chr21:44189140G>A	ENST00000291539.6	+	17	1525	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	PDE9A_ENST00000398225.3_Missense_Mutation_p.D448N|PDE9A_ENST00000398227.3_Missense_Mutation_p.D329N|PDE9A_ENST00000328862.6_Missense_Mutation_p.D463N|PDE9A_ENST00000398224.3_Missense_Mutation_p.D362N|PDE9A_ENST00000398232.3_Missense_Mutation_p.D422N|PDE9A_ENST00000539837.1_Missense_Mutation_p.D361N|PDE9A_ENST00000335440.6_Missense_Mutation_p.D387N|PDE9A_ENST00000398234.3_Missense_Mutation_p.D388N|PDE9A_ENST00000380328.2_Missense_Mutation_p.D436N|PDE9A_ENST00000335512.4_Missense_Mutation_p.D429N|PDE9A_ENST00000349112.3_Missense_Mutation_p.D361N|PDE9A_ENST00000398229.3_Missense_Mutation_p.D355N|PDE9A_ENST00000398236.3_Missense_Mutation_p.D403N|PDE9A_ENST00000470987.1_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	489	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)	CCTGCAGAGCGACCGTGAGAA	0.517																																					p.D489N		.											.	.	.	0			c.G1465A						.						151	134	140					21																	44189140		2203	4300	6503	SO:0001583	missense	5152	exon17			CAGAGCGACCGTG	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.1465G>A	21.37:g.44189140G>A	ENSP00000291539:p.Asp489Asn	40	0		28	15	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	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364687	0.82463	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	D;D;D;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;-1.97;-1.97;-1.97	4.75	4.75	0.60458	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.047408	0.85682	N	0.000000	D	0.94381	0.8193	M	0.93720	3.45	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;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;P;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.996;0.996;0.873;0.999;0.999;0.994;0.991;0.991;0.996;0.991;0.999;0.997;0.996;0.996	D	0.95631	0.8689	10	0.59425	D	0.04	.	17.7454	0.88419	0.0:0.0:1.0:0.0	.	422;403;388;463;448;381;429;272;329;355;361;387;436;362;489	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	N	429;361;489;436;422;388;403;463;387;448;355;329;361;362	ENSP00000335242:D429N;ENSP00000441899:D361N;ENSP00000291539:D489N;ENSP00000369685:D436N;ENSP00000381287:D422N;ENSP00000381289:D388N;ENSP00000381291:D403N;ENSP00000328699:D463N;ENSP00000335365:D387N;ENSP00000381281:D448N;ENSP00000381285:D355N;ENSP00000381283:D329N;ENSP00000344730:D361N;ENSP00000381280:D362N	ENSP00000291539:D489N	D	+	1	0	PDE9A	43062209	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	9.304000	0.96190	2.190000	0.69967	0.313000	0.20887	GAC	.		0.517	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			A	44189140	G	A	44189140	3	1	32	1	0	0	0	0	1	0	0	0	11694	1058	37	1	1611	1	PDE9A	21	44189140	Missense_Mutation	SNP	G	TCGA-ZH-A8Y5-01A-11D-A417-09	13849934	44189140	3940755	94	5072											
H6PD	9563	bcgsc.ca	37	1	9305083	9305083	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:9305083G>T	ENST00000377403.2	+	2	392	c.90G>T	c.(88-90)ctG>ctT	p.L30L	H6PD_ENST00000602477.1_Silent_p.L41L	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	30	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)		CCATAATCCTGCTGGGAGCAA	0.567																																					p.L30L													.	H6PD	71	0			c.G90T						.						61	61	61					1																	9305083		2203	4300	6503	SO:0001819	synonymous_variant	9563	exon2			AATCCTGCTGGGA	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.90G>T	1.37:g.9305083G>T		18	0		18	3	NM_004285	Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	CCDS101.1																																																																																			.		0.567	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		T	9305083	G	T	9305083	2	4	33	1	0	0	0	0	0	0	0	1	6963	1306	46	3		3	H6PD	1	9305083	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		9305083	239945538	1	5073											
FAM131C	348487	ucsc.edu	37	1	16385007	16385007	+	Silent	SNP	C	C	T	rs2019769	byFrequency	TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:16385007C>T	ENST00000375662.4	-	7	951	c.768G>A	c.(766-768)ggG>ggA	p.G256G	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	256	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)		GGGGGTGGGTCCCACCCTCGG	0.721																																					p.G256G													.	FAM131C	21	0			c.G768A						.						3	3	3					1																	16385007		1442	3239	4681	SO:0001819	synonymous_variant	348487	exon7			GTGGGTCCCACCC		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.768G>A	1.37:g.16385007C>T		65	0		83	10	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																			C|1.000;|0.000		0.721	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		T	16385007	C	T	16385007	2	4	33	1	0	0	0	0	0	0	0	1	5460	842	30	3		3	FAM131C	1	16385007	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	7079924	16385007	232865614	2	5074											
ARID1A	8289	hgsc.bcm.edu	37	1	27106011	27106011	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:27106011C>T	ENST00000324856.7	+	20	5993	c.5622C>T	c.(5620-5622)tgC>tgT	p.C1874C	ARID1A_ENST00000540690.1_Silent_p.C202C|ARID1A_ENST00000457599.2_Silent_p.C1657C|ARID1A_ENST00000374152.2_Silent_p.C1491C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1874					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)		ACGCACCCTGCCCACCAGCCC	0.617			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.C1874C		.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	.	0			c.C5622T						.						64	70	68					1																	27106011		2203	4300	6503	SO:0001819	synonymous_variant	8289	exon20			ACCCTGCCCACCA	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.5622C>T	1.37:g.27106011C>T		64	0		95	4	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128462	0.06753	.	.	ENSG00000117713	ENST00000430799	.	.	.	4.74	0.51	0.16983	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.19575	N	0.999962	.	.	.	.	.	.	T	0.23404	-1.0189	4	.	.	.	-0.131	2.77	0.05332	0.1253:0.5357:0.1223:0.2168	.	.	.	.	S	771	.	.	P	+	1	0	ARID1A	26978598	0.247000	0.23920	0.540000	0.28089	0.948000	0.59901	0.588000	0.23924	0.319000	0.23209	0.491000	0.48974	CCC	.		0.617	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27106011	C	T	27106011	2	4	33	1	0	0	0	0	0	0	0	1	913	747	26	3		3	ARID1A	1	27106011	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	10721004	27106011	222144610	3	5075											
ZNF642	339559	hgsc.bcm.edu;bcgsc.ca	37	1	40945074	40945074	+	Missense_Mutation	SNP	G	G	A	rs370110368		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:40945074G>A	ENST00000372706.1	+	2	1047	c.41G>A	c.(40-42)aGc>aAc	p.S14N	ZFP69_ENST00000372705.3_Missense_Mutation_p.S14N			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	14	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACCGAGGCCAGCACCTGGGTG	0.552																																					p.S14N		.											.	.	.	0			c.G41A						.	G	ASN/SER	0,4406		0,0,2203	73	72	72		41	1.8	0.6	1		72	1,8599		0,1,4299	no	missense	ZNF642	NM_198494.2	46	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	14/527	40945074	1,13005	2203	4300	6503	SO:0001583	missense	339559	exon2			AGGCCAGCACCTG	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.41G>A	1.37:g.40945074G>A	ENSP00000361791:p.Ser14Asn	27	0		39	4	NM_198494	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	12.46	1.945308	0.34377	0.0	1.16E-4	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05513	3.43;3.43	3.69	1.81	0.25067	.	0.768823	0.11121	N	0.597477	T	0.07279	0.0184	M	0.63428	1.95	0.19775	N	0.999957	B	0.06786	0.001	B	0.04013	0.001	T	0.40590	-0.9555	10	0.21540	T	0.41	-9.0E-4	5.8515	0.18696	0.242:0.0:0.758:0.0	.	14	Q49AA0	ZN642_HUMAN	N	14	ENSP00000361791:S14N;ENSP00000361790:S14N	ENSP00000361790:S14N	S	+	2	0	ZNF642	40717661	0.991000	0.36638	0.621000	0.29145	0.922000	0.55478	1.765000	0.38481	0.542000	0.28846	-0.140000	0.14226	AGC	.		0.552	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		A	40945074	G	A	40945074	3	1	33	1	0	0	0	0	1	0	0	0	18106	971	34	3	43	3	ZNF642	1	40945074	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	13839063	40945074	208305547	4	5076											
EDN2	1907	hgsc.bcm.edu;bcgsc.ca	37	1	41949743	41949743	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:41949743C>T	ENST00000372587.4	-	2	265	c.196G>A	c.(196-198)Gac>Aac	p.D66N	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	66					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGATGATGTCCAAGTGGCAG	0.612																																					p.D66N		.											.	.	.	0			c.G196A						.						51	39	43					1																	41949743		2203	4299	6502	SO:0001583	missense	1907	exon2			TGATGTCCAAGTG	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"Endogenous ligands"	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.196G>A	1.37:g.41949743C>T	ENSP00000361668:p.Asp66Asn	51	0		68	4	NM_001956	Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	CCDS462.1	.	.	.	.	.	.	.	.	.	.	C	36	5.634336	0.96682	.	.	ENSG00000127129	ENST00000372587	D	0.98178	-4.77	5.75	5.75	0.90469	Endothelin-like toxin (2);	0.000000	0.85682	D	0.000000	D	0.99039	0.9671	M	0.85197	2.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99782	1.1028	10	0.72032	D	0.01	-30.5015	18.5059	0.90897	0.0:1.0:0.0:0.0	.	66	P20800	EDN2_HUMAN	N	66	ENSP00000361668:D66N	ENSP00000361668:D66N	D	-	1	0	EDN2	41722330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.203000	0.77864	2.714000	0.92807	0.561000	0.74099	GAC	.		0.612	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		T	41949743	C	T	41949743	3	4	33	1	0	0	0	0	1	0	0	0	4931	855	30	3	356	3	EDN2	1	41949743	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	1004669	41949743	207300878	5	5077											
LRRIQ3	127255	hgsc.bcm.edu;bcgsc.ca	37	1	74648427	74648427	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:74648427G>T	ENST00000395089.1	-	2	367	c.368C>A	c.(367-369)aCc>aAc	p.T123N	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.T123N|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.T123N|LRRIQ3_ENST00000370909.2_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	123										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						GGCAATGAGGGTTGGACAGGC	0.368																																					p.T123N		.											.	.	.	0			c.C368A						.						102	96	98					1																	74648427		2203	4300	6503	SO:0001583	missense	127255	exon3			ATGAGGGTTGGAC	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.368C>A	1.37:g.74648427G>T	ENSP00000378524:p.Thr123Asn	90	0		100	4	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	6.578	0.475006	0.12521	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.12672	3.26;3.26;2.66	5.65	-6.14	0.02111	.	1.005240	0.08001	N	0.988834	T	0.00724	0.0024	N	0.01048	-1.04	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	10	0.06494	T	0.89	.	7.6004	0.28073	0.0:0.3986:0.2132:0.3882	.	123	A6PVS8	LRIQ3_HUMAN	N	123	ENSP00000378524:T123N;ENSP00000346414:T123N;ENSP00000359948:T123N	ENSP00000346414:T123N	T	-	2	0	LRRIQ3	74421015	0.014000	0.17966	0.255000	0.24374	0.975000	0.68041	-0.189000	0.09629	-1.574000	0.01657	-1.072000	0.02254	ACC	.		0.368	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		T	74648427	G	T	74648427	3	4	33	1	0	0	0	0	1	0	0	0	9065	1261	44	3	1530	3	LRRIQ3	1	74648427	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	32698684	74648427	174602194	6	5078											
FAM73A	374986	hgsc.bcm.edu;bcgsc.ca	37	1	78338699	78338699	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:78338699G>T	ENST00000370791.3	+	15	1606	c.1574G>T	c.(1573-1575)gGa>gTa	p.G525V	FAM73A_ENST00000443751.2_Missense_Mutation_p.G488V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	525						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ATCCCAGATGGATTTTTTGCC	0.383																																					p.G526V		.											.	.	.	0			c.G1577T						.						222	212	215					1																	78338699		2203	4300	6503	SO:0001583	missense	374986	exon15			CAGATGGATTTTT		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1574G>T	1.37:g.78338699G>T	ENSP00000359827:p.Gly525Val	97	0		98	4	NM_001270384	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518279	0.85495	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.61158	0.13;0.13	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.86268	2.805	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	0.78583	-0.2148	10	0.59425	D	0.04	-17.5265	20.0693	0.97712	0.0:0.0:1.0:0.0	.	488;526;525	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	525;488	ENSP00000359827:G525V;ENSP00000393675:G488V	ENSP00000359827:G525V	G	+	2	0	FAM73A	78111287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.248000	0.95456	2.758000	0.94735	0.563000	0.77884	GGA	.		0.383	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		T	78338699	G	T	78338699	3	4	33	1	0	0	0	0	1	0	0	0	5639	1174	41	3	1632	3	FAM73A	1	78338699	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	3690272	78338699	170911922	7	5079											
ARHGAP29	9411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	94650575	94650575	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:94650575G>A	ENST00000260526.6	-	18	2144	c.1962C>T	c.(1960-1962)gtC>gtT	p.V654V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	654					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)		CACAAATAATGACTAAATTTT	0.343																																					p.V654V		.											.	.	.	0			c.C1962T						.						59	62	61					1																	94650575		2203	4300	6503	SO:0001819	synonymous_variant	9411	exon18			AATAATGACTAAA		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.1962C>T	1.37:g.94650575G>A		64	0		91	39	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	CCDS748.1																																																																																			.		0.343	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		A	94650575	G	A	94650575	2	1	33	1	0	0	0	0	0	0	0	1	878	1277	45	3		3	ARHGAP29	1	94650575	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	16311876	94650575	154600046	8	5080											
AGL	178	hgsc.bcm.edu	37	1	100346961	100346961	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:100346961C>T	ENST00000294724.4	+	16	2593	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	AGL_ENST00000370163.3_Silent_p.I705I|AGL_ENST00000361302.3_Silent_p.I689I|AGL_ENST00000370161.2_Silent_p.I689I|AGL_ENST00000361915.3_Silent_p.I705I|AGL_ENST00000370165.3_Silent_p.I705I|AGL_ENST00000361522.4_Silent_p.I688I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	705					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)	p.I705I(1)		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)		GGTGTGCTATCAGTAAACTTC	0.393																																					p.I705I		.											AGL,NS,carcinoma,0,1	AGL	0	1	Substitution - coding silent(1)	lung(1)	c.C2115T						.						111	112	112					1																	100346961		2203	4300	6503	SO:0001819	synonymous_variant	178	exon16			TGCTATCAGTAAA	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.2115C>T	1.37:g.100346961C>T		45	0		36	2	NM_000644	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																			.		0.393	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		T	100346961	C	T	100346961	2	4	33	1	0	0	0	0	0	0	0	1	384	816	29	3		3	AGL	1	100346961	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	5696386	100346961	148903660	9	5081											
TDRD10	126668	hgsc.bcm.edu	37	1	154493819	154493819	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:154493819G>T	ENST00000368480.3	+	6	318	c.233G>T	c.(232-234)gGc>gTc	p.G78V	TDRD10_ENST00000368482.4_Missense_Mutation_p.G78V			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						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)			GTAGATCTGGGCTCCATGCAG	0.512																																					p.G78V		.											.	.	.	0			c.G233T						.						127	133	131					1																	154493819		2203	4300	6503	SO:0001583	missense	126668	exon6			ATCTGGGCTCCAT	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.233G>T	1.37:g.154493819G>T	ENSP00000357465:p.Gly78Val	44	0		37	3	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789899	0.70337	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.08102	3.13;3.13	3.79	2.77	0.32553	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.06188	0.0160	N	0.12422	0.21	0.42933	D	0.994323	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.958	T	0.33111	-0.9881	9	0.54805	T	0.06	-2.7434	8.6088	0.33789	0.0:0.237:0.763:0.0	.	78;78	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	V	78	ENSP00000357467:G78V;ENSP00000357465:G78V	ENSP00000357465:G78V	G	+	2	0	TDRD10	152760443	0.999000	0.42202	0.992000	0.48379	0.489000	0.33432	1.204000	0.32296	2.106000	0.64143	0.557000	0.71058	GGC	.		0.512	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		T	154493819	G	T	154493819	3	4	33	1	0	0	0	0	1	0	0	0	15778	1203	42	3	251	3	TDRD10	1	154493819	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	54146858	154493819	94756802	10	5082											
KCNN3	3782	hgsc.bcm.edu	37	1	154842238	154842238	+	Missense_Mutation	SNP	T	T	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:154842238T>A	ENST00000271915.4	-	1	518	c.203A>T	c.(202-204)cAg>cTg	p.Q68L	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	68	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)	ctgctgctgctgctgaagctg	0.701																																					p.Q68L		.											.	.	.	0			c.A203T						.						6	5	5					1																	154842238		1884	3756	5640	SO:0001583	missense	3782	exon1			TGCTGCTGCTGAA	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.203A>T	1.37:g.154842238T>A	ENSP00000271915:p.Gln68Leu	31	0		36	6	NM_001204087	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076377	0.07184	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.53423	0.62	4.75	3.61	0.41365	.	1.830960	0.02893	N	0.134413	T	0.18800	0.0451	N	0.19112	0.55	0.80722	D	1	B;B	0.22003	0.035;0.063	B;B	0.19946	0.027;0.026	T	0.02398	-1.1165	10	0.32370	T	0.25	-15.1212	9.8148	0.40846	0.0:0.0:0.1734:0.8266	.	74;73	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	L	68;163	ENSP00000271915:Q68L	ENSP00000271915:Q68L	Q	-	2	0	KCNN3	153108862	0.937000	0.31787	1.000000	0.80357	0.980000	0.70556	0.184000	0.16939	0.836000	0.34901	0.460000	0.39030	CAG	.		0.701	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		A	154842238	T	A	154842238	3	1	33	1	0	0	0	0	1	0	0	0	8107	1580	55	5	2046	5	KCNN3	1	154842238	Missense_Mutation	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	348419	154842238	94408383	11	5083											
KIAA0907	22889	hgsc.bcm.edu	37	1	155896523	155896523	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:155896523C>T	ENST00000368321.3	-	6	648	c.625G>A	c.(625-627)Gca>Aca	p.A209T	KIAA0907_ENST00000368319.3_Missense_Mutation_p.A209T|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.A209T|SCARNA4_ENST00000516999.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	209							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCGATGGGTGCTGGCTGGTGA	0.453																																					p.A209T		.											KIAA0907,NS,carcinoma,0,1	KIAA0907	0	0			c.G625A						.						161	143	149					1																	155896523		2203	4300	6503	SO:0001583	missense	22889	exon6			TGGGTGCTGGCTG	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.625G>A	1.37:g.155896523C>T	ENSP00000357304:p.Ala209Thr	67	0		75	3	NM_014949	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321441	0.60634	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.64	5.64	0.86602	.	0.191174	0.49916	D	0.000139	T	0.37265	0.0997	L	0.41824	1.3	0.43729	D	0.996217	P;B;B;P	0.46859	0.885;0.112;0.095;0.571	B;B;B;B	0.39805	0.31;0.047;0.021;0.28	T	0.17228	-1.0376	9	0.17369	T	0.5	-13.1658	19.4873	0.95035	0.0:1.0:0.0:0.0	.	209;209;209;209	Q7Z7F0-4;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;K0907_HUMAN	T	209	.	ENSP00000357302:A209T	A	-	1	0	KIAA0907	154163147	0.959000	0.32827	1.000000	0.80357	0.924000	0.55760	1.978000	0.40598	2.937000	0.99478	0.650000	0.86243	GCA	.		0.453	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		T	155896523	C	T	155896523	3	4	33	1	0	0	0	0	1	0	0	0	8226	797	28	3	1255	3	KIAA0907	1	155896523	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	1054285	155896523	93354098	12	5084											
ETV3L	440695	bcgsc.ca	37	1	157062558	157062558	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:157062558G>T	ENST00000454449.2	-	5	1253	c.969C>A	c.(967-969)ggC>ggA	p.G323G		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	323					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)				TGGGATCCAGGCCTCCCTTTG	0.607																																					p.G323G													.	ETV3L	73	0			c.C969A						.						69	67	68					1																	157062558		2203	4300	6503	SO:0001819	synonymous_variant	440695	exon5			ATCCAGGCCTCCC	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.969C>A	1.37:g.157062558G>T		51	0		54	4	NM_001004341		Silent	SNP	ENST00000454449.2	37	CCDS30893.1																																																																																			.		0.607	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		T	157062558	G	T	157062558	2	4	33	1	0	0	0	0	0	0	0	1	5296	1190	42	3		3	ETV3L	1	157062558	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	1166035	157062558	92188063	13	5085											
UFC1	51506	hgsc.bcm.edu	37	1	161123896	161123896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:161123896C>T	ENST00000368003.5	+	1	355	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	37					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGAGGAATATCAGTCCCTTAT	0.532																																					p.Q37X		.											.	.	.	0			c.C109T						.						183	160	168					1																	161123896		2203	4300	6503	SO:0001587	stop_gained	51506	exon1			GAATATCAGTCCC	AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.109C>T	1.37:g.161123896C>T	ENSP00000356982:p.Gln37*	43	0		82	4	NM_016406	A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Nonsense_Mutation	SNP	ENST00000368003.5	37	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	C	38	6.715298	0.97784	.	.	ENSG00000143222	ENST00000368003	.	.	.	5.98	5.98	0.97165	.	0.068638	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9977	19.289	0.94090	0.0:1.0:0.0:0.0	.	.	.	.	X	37	.	ENSP00000356982:Q37X	Q	+	1	0	UFC1	159390520	1.000000	0.71417	0.999000	0.59377	0.694000	0.40290	4.083000	0.57643	2.852000	0.98041	0.644000	0.83932	CAG	.		0.532	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	NM_016406		T	161123896	C	T	161123896	4	4	33	1	0	0	0	0	0	1	0	0	16983	827	29	3	111	3	UFC1	1	161123896	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	4061338	161123896	88126725	14	5086											
PCNXL2	80003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	233270846	233270846	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:233270846G>A	ENST00000258229.9	-	21	3984	c.3750C>T	c.(3748-3750)ttC>ttT	p.F1250F	PCNXL2_ENST00000488780.2_Silent_p.F383F|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1250						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)				AGATGACAGTGAAGCTCAAGT	0.393																																					p.F1250F		.											.	.	.	0			c.C3750T						.						81	80	80					1																	233270846		1864	4108	5972	SO:0001819	synonymous_variant	80003	exon21			GACAGTGAAGCTC	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.3750C>T	1.37:g.233270846G>A		77	0		100	40	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																			.		0.393	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		A	233270846	G	A	233270846	2	1	33	1	0	0	0	0	0	0	0	1	11631	1281	45	3		3	PCNXL2	1	233270846	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	72146950	233270846	15979775	15	5087											
LYST	1130	hgsc.bcm.edu	37	1	235972607	235972607	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:235972607C>T	ENST00000389794.3	-	5	1685	c.1511G>A	c.(1510-1512)tGt>tAt	p.C504Y	LYST_ENST00000536965.1_Missense_Mutation_p.C504Y|LYST_ENST00000389793.2_Missense_Mutation_p.C504Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	504					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)			AGAATATTCACATCGTCTGTG	0.378																																					p.C504Y		.											LYST,NS,carcinoma,0,1	LYST	0	0			c.G1511A						.						110	110	110					1																	235972607		2203	4300	6503	SO:0001583	missense	1130	exon5			TATTCACATCGTC	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.1511G>A	1.37:g.235972607C>T	ENSP00000374444:p.Cys504Tyr	30	0		31	2	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.585986	0.66105	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.14640	2.49;2.49;2.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.08700	-1.0709	10	0.87932	D	0	.	19.2976	0.94129	0.0:1.0:0.0:0.0	.	504;504	Q99698-3;Q99698	.;LYST_HUMAN	Y	504	ENSP00000374444:C504Y;ENSP00000374443:C504Y;ENSP00000438315:C504Y	ENSP00000374443:C504Y	C	-	2	0	LYST	234039230	1.000000	0.71417	0.537000	0.28052	0.970000	0.65996	7.487000	0.81328	2.547000	0.85894	0.650000	0.86243	TGT	.		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235972607	C	T	235972607	3	4	33	1	0	0	0	0	1	0	0	0	9164	478	17	3	10090	3	LYST	1	235972607	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	2701761	235972607	13278014	16	5088											
MTR	4548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	237049616	237049616	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:237049616C>G	ENST00000366577.5	+	27	3194	c.2800C>G	c.(2800-2802)Caa>Gaa	p.Q934E	MTR_ENST00000535889.1_Missense_Mutation_p.Q883E	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	934	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)	ACCCTTAAGTCAAGCCAGAAA	0.408																																					p.Q934E		.											.	.	.	0			c.C2800G						.						103	97	99					1																	237049616		2203	4300	6503	SO:0001583	missense	4548	exon27			TTAAGTCAAGCCA	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.2800C>G	1.37:g.237049616C>G	ENSP00000355536:p.Gln934Glu	66	0		58	20	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	6.614	0.481751	0.12581	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75704	-0.96;-0.96;-0.96	5.05	5.05	0.67936	Vitamin B12-dependent methionine synthase, activation domain (2);	0.279845	0.35772	N	0.002988	T	0.55016	0.1894	N	0.10874	0.06	0.37052	D	0.897656	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.55218	-0.8175	10	0.07644	T	0.81	-12.6925	17.5728	0.87940	0.0:1.0:0.0:0.0	.	934;883;934	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	E	788;934;883;488	ENSP00000355536:Q934E;ENSP00000441845:Q883E;ENSP00000355535:Q488E	ENSP00000355535:Q488E	Q	+	1	0	MTR	235116239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.987000	0.49378	2.593000	0.87608	0.563000	0.77884	CAA	.		0.408	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		G	237049616	C	G	237049616	3	3	33	1	0	0	0	0	1	0	0	0	9996	827	29	5	2906	5	MTR	1	237049616	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	1077009	237049616	12201005	17	5089											
RYR2	6262	hgsc.bcm.edu	37	1	237880647	237880647	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr1:237880647G>T	ENST00000366574.2	+	72	10790	c.10473G>T	c.(10471-10473)ctG>ctT	p.L3491L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L3489L|RYR2_ENST00000542537.1_Silent_p.L3475L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3491					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)			TCATTGCTCTGGCCAAAAATC	0.502																																					p.L3491L		.											RYR2,NS,carcinoma,0,1	RYR2	0	0			c.G10473T						.						71	76	74					1																	237880647		1927	4125	6052	SO:0001819	synonymous_variant	6262	exon72			TGCTCTGGCCAAA	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.10473G>T	1.37:g.237880647G>T		42	0		73	3	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237880647	G	T	237880647	2	4	33	1	0	0	0	0	0	0	0	1	13814	1335	47	3		3	RYR2	1	237880647	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	831031	237880647	11369974	18	5090											
CAPN13	92291	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	31010106	31010106	+	Missense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:31010106A>T	ENST00000295055.8	-	2	262	c.86T>A	c.(85-87)cTg>cAg	p.L29Q	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.L29Q	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	29					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCCCATGCTCAGGCAGTGATC	0.512																																					p.L29Q		.											.	.	.	0			c.T86A						.						47	48	48					2																	31010106		1980	4161	6141	SO:0001583	missense	92291	exon2			ATGCTCAGGCAGT		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.86T>A	2.37:g.31010106A>T	ENSP00000295055:p.Leu29Gln	31	0		52	4	NM_144575	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232425	0.39498	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.19250	2.16;2.16	5.91	5.91	0.95273	Peptidase C2, calpain, catalytic domain (1);	0.151685	0.44902	D	0.000411	T	0.50973	0.1647	M	0.86953	2.85	0.20074	N	0.999932	D	0.89917	1.0	D	0.76575	0.988	T	0.54957	-0.8215	10	0.87932	D	0	.	12.743	0.57264	1.0:0.0:0.0:0.0	.	29	Q6MZZ7	CAN13_HUMAN	Q	29	ENSP00000295055:L29Q;ENSP00000431298:L29Q	ENSP00000295055:L29Q	L	-	2	0	CAPN13	30863610	0.994000	0.37717	0.427000	0.26684	0.003000	0.03518	4.746000	0.62133	2.266000	0.75297	0.533000	0.62120	CTG	.		0.512	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		T	31010106	A	T	31010106	3	4	33	1	0	0	0	0	1	0	0	0	2633	188	7	5	2007	5	CAPN13	2	31010106	Missense_Mutation	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09		31010106	212189267	19	5091											
NRXN1	9378	hgsc.bcm.edu	37	2	50723152	50723152	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:50723152C>T	ENST00000406316.2	-	15	4437	c.2961G>A	c.(2959-2961)caG>caA	p.Q987Q	NRXN1_ENST00000401669.2_Silent_p.Q987Q|NRXN1_ENST00000405472.3_Silent_p.Q979Q|NRXN1_ENST00000401710.1_De_novo_Start_OutOfFrame|NRXN1_ENST00000402717.3_Silent_p.Q979Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.Q987Q|NRXN1_ENST00000404971.1_Silent_p.Q1027Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	987	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)			CGTTGTGCCACTGATTGTCAT	0.423																																					p.Q1027Q		.											.	.	.	0			c.G3081A						.						157	142	147					2																	50723152		2032	4197	6229	SO:0001819	synonymous_variant	9378	exon16			GTGCCACTGATTG	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.2961G>A	2.37:g.50723152C>T		70	0		89	4	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																			.		0.423	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50723152	C	T	50723152	2	4	33	1	0	0	0	0	0	0	0	1	10704	564	20	3		3	NRXN1	2	50723152	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	19713046	50723152	192476221	20	5092											
C2orf42	54980	hgsc.bcm.edu	37	2	70392715	70392715	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:70392715C>T	ENST00000264434.2	-	7	1576	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	C2orf42_ENST00000420306.1_Silent_p.L399L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	399										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTCTTTGTTGCAGGGCATCAA	0.418																																					p.L399L		.											.	.	.	0			c.G1197A						.						95	98	97					2																	70392715		2203	4300	6503	SO:0001819	synonymous_variant	54980	exon7			TTGTTGCAGGGCA	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1197G>A	2.37:g.70392715C>T		77	0		101	4	NM_017880	D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	CCDS1899.1																																																																																			.		0.418	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		T	70392715	C	T	70392715	2	4	33	1	0	0	0	0	0	0	0	1	2173	697	25	3		3	C2orf42	2	70392715	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	19669563	70392715	172806658	21	5093											
TET3	200424	ucsc.edu	37	2	74274265	74274265	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:74274265T>C	ENST00000409262.3	+	1	816	c.816T>C	c.(814-816)ccT>ccC	p.P272P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	272					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						CCTCATGGCCTGTGGTTCCTC	0.582																																					p.P272P													.	TET3	101	0			c.T816C						.						66	68	67					2																	74274265		1996	4171	6167	SO:0001819	synonymous_variant	200424	exon1			ATGGCCTGTGGTT		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.816T>C	2.37:g.74274265T>C		29	0		38	4	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																			.		0.582	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			C	74274265	T	C	74274265	2	2	33	1	0	0	0	0	0	0	0	1	15818	1567	55	4		4	TET3	2	74274265	Silent	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	3881550	74274265	168925108	22	5094											
RNF103	7844	hgsc.bcm.edu;bcgsc.ca	37	2	86831626	86831626	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:86831626G>T	ENST00000237455.4	-	4	2366	c.1398C>A	c.(1396-1398)ctC>ctA	p.L466L	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	466					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TCGGGTGGAAGAGGTAGCTGG	0.448																																					p.L466L		.											.	.	.	0			c.C1398A						.						90	89	89					2																	86831626		2203	4300	6503	SO:0001819	synonymous_variant	7844	exon4			GTGGAAGAGGTAG	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1398C>A	2.37:g.86831626G>T		33	0		40	4	NM_005667	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Silent	SNP	ENST00000237455.4	37	CCDS33237.1																																																																																			.		0.448	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		T	86831626	G	T	86831626	2	4	33	1	0	0	0	0	0	0	0	1	13468	929	33	3		3	RNF103	2	86831626	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	12557361	86831626	156367747	23	5095											
UGGT1	56886	hgsc.bcm.edu	37	2	128884954	128884954	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:128884954G>T	ENST00000259253.6	+	12	1201	c.1154G>T	c.(1153-1155)gGa>gTa	p.G385V	UGGT1_ENST00000375990.3_Missense_Mutation_p.G361V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	385					'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)	p.G385A(1)		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						GGAACTTTAGGATTACAACCT	0.323																																					p.G385V		.											UGGT1,NS,carcinoma,0,1	UGGT1	0	1	Substitution - Missense(1)	lung(1)	c.G1154T						.						73	75	75					2																	128884954		2203	4300	6503	SO:0001583	missense	56886	exon12			CTTTAGGATTACA	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.1154G>T	2.37:g.128884954G>T	ENSP00000259253:p.Gly385Val	67	0		85	4	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649476	0.87958	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.61274	0.12;0.12	5.51	5.51	0.81932	.	0.101117	0.64402	D	0.000002	T	0.79873	0.4521	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.77004	0.989;0.794	T	0.78653	-0.2120	10	0.27785	T	0.31	.	19.0419	0.93004	0.0:0.0:1.0:0.0	.	361;385	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	361;385	ENSP00000365158:G361V;ENSP00000259253:G385V	ENSP00000259253:G385V	G	+	2	0	UGGT1	128601424	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.100000	0.94213	2.600000	0.87896	0.655000	0.94253	GGA	.		0.323	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		T	128884954	G	T	128884954	3	4	33	1	0	0	0	0	1	0	0	0	16990	1174	41	3	1200	3	UGGT1	2	128884954	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	42053328	128884954	114314419	24	5096											
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	162807340	162807340	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:162807340G>A	ENST00000446997.1	+	19	2616	c.2523G>A	c.(2521-2523)agG>agA	p.R841R	SLC4A10_ENST00000272716.5_Silent_p.R811R|SLC4A10_ENST00000375514.5_Silent_p.R822R|SLC4A10_ENST00000421911.1_Silent_p.R841R|SLC4A10_ENST00000415876.2_Silent_p.R811R	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	841					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCATCAACAGGAAAGAGCATA	0.323																																					p.R841R		.											.	.	.	0			c.G2523A						.						59	54	56					2																	162807340		1836	4093	5929	SO:0001819	synonymous_variant	57282	exon19			CAACAGGAAAGAG		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2523G>A	2.37:g.162807340G>A		68	0		67	30	NM_001178015	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																			.		0.323	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162807340	G	A	162807340	2	1	33	1	0	0	0	0	0	0	0	1	14696	1165	41	3		3	SLC4A10	2	162807340	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	33922386	162807340	80392033	25	5097											
ABCB11	8647	bcgsc.ca	37	2	169792945	169792945	+	Splice_Site	SNP	T	T	C			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:169792945T>C	ENST00000263817.6	-	22	2735		c.e22-2			NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11						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)	GCCGGCAGCCTGCAAACCAAA	0.443																																					.													.	ABCB11	136	0			c.2611-2A>G	GRCh37	CS081857	ABCB11	S		.						70	70	70					2																	169792945		1944	4137	6081	SO:0001630	splice_region_variant	8647	exon23			GCAGCCTGCAAAC	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.2611-2A>G	2.37:g.169792945T>C		48	0		55	4	NM_003742	Q53TL2|Q9UNB2	Splice_Site	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380120	0.82682	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6231	0.76824	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB11	169501191	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.698000	0.84413	2.096000	0.63516	0.459000	0.35465	.	.		0.443	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	Intron	C	169792945	T	C	169792945	5	2	33	1	0	0	0	0	0	0	1	0	42	1594	55	4	1384	4	ABCB11	2	169792945	Splice_Site	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	6985605	169792945	73406428	26	5098											
NBEAL1	65065	hgsc.bcm.edu;bcgsc.ca	37	2	204000456	204000456	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:204000456G>T	ENST00000449802.1	+	27	4116	c.3783G>T	c.(3781-3783)gtG>gtT	p.V1261V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1261										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						CACAGCAAGTGGGTTGGCAAG	0.338																																					p.V1261V		.											.	.	.	0			c.G3783T						.						52	43	46					2																	204000456		692	1591	2283	SO:0001819	synonymous_variant	65065	exon27			GCAAGTGGGTTGG	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.3783G>T	2.37:g.204000456G>T		100	0		91	4	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.338	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	204000456	G	T	204000456	2	4	33	1	0	0	0	0	0	0	0	1	10226	1335	47	3		3	NBEAL1	2	204000456	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	34207511	204000456	39198917	27	5099											
SLC16A14	151473	hgsc.bcm.edu	37	2	230914527	230914527	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:230914527G>A	ENST00000295190.4	-	3	811	c.353C>T	c.(352-354)gCc>gTc	p.A118V		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGCAGCATAGGCACTCAACAC	0.468																																					p.A118V		.											.	.	.	0			c.C353T						.						100	98	99					2																	230914527		2203	4300	6503	SO:0001583	missense	151473	exon3			GCATAGGCACTCA	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.353C>T	2.37:g.230914527G>A	ENSP00000295190:p.Ala118Val	75	0		87	4	NM_152527	A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777101	0.90195	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	D;D;D	0.83506	-1.73;-1.73;-1.73	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000030	D	0.89283	0.6671	L	0.59912	1.85	0.58432	D	0.999998	B;D	0.67145	0.051;0.996	B;D	0.68353	0.063;0.957	D	0.90308	0.4335	10	0.72032	D	0.01	.	18.0841	0.89452	0.0:0.0:1.0:0.0	.	118;118	E7EMG7;Q7RTX9	.;MOT14_HUMAN	V	118	ENSP00000295190:A118V;ENSP00000400352:A118V;ENSP00000395775:A118V	ENSP00000295190:A118V	A	-	2	0	SLC16A14	230622771	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	8.084000	0.89516	2.490000	0.84030	0.655000	0.94253	GCC	.		0.468	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		A	230914527	G	A	230914527	3	1	33	1	0	0	0	0	1	0	0	0	14452	1203	42	3	1191	3	SLC16A14	2	230914527	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	26914071	230914527	12284846	28	5100											
SP100	6672	hgsc.bcm.edu	37	2	231314943	231314943	+	Missense_Mutation	SNP	C	C	A	rs368340530		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:231314943C>A	ENST00000264052.5	+	8	1148	c.793C>A	c.(793-795)Ccc>Acc	p.P265T	SP100_ENST00000409824.1_Missense_Mutation_p.P240T|SP100_ENST00000427101.2_Missense_Mutation_p.P240T|SP100_ENST00000340126.4_Missense_Mutation_p.P265T|SP100_ENST00000341950.4_Missense_Mutation_p.P265T|SP100_ENST00000409341.1_Missense_Mutation_p.P265T|SP100_ENST00000409112.1_Missense_Mutation_p.P265T|SP100_ENST00000409897.1_Missense_Mutation_p.P230T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	265					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)	p.P265S(2)		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)		AAGGGAGATGCCCTGCCCGTT	0.448																																					p.P265T		.											SP100_ENST00000340126,mouth,carcinoma,0,2	SP100_ENST00000340126	0	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)	c.C793A						.						232	212	219					2																	231314943		2203	4300	6503	SO:0001583	missense	6672	exon8			GAGATGCCCTGCC	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.793C>A	2.37:g.231314943C>A	ENSP00000264052:p.Pro265Thr	29	0		38	2	NM_001206702	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899486	0.33535	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;T;T;T;T	0.80304	2.29;2.2;2.2;2.19;-1.36;0.21;2.17;2.19	3.75	0.868	0.19090	.	0.517604	0.14630	N	0.307868	T	0.74207	0.3686	N	0.24115	0.695	0.09310	N	1	D;P;D;D;D;D;P;D	0.76494	0.999;0.94;0.999;0.982;0.999;0.969;0.94;0.999	D;B;D;P;D;P;P;D	0.70716	0.961;0.331;0.915;0.743;0.97;0.558;0.561;0.961	T	0.63651	-0.6589	10	0.07175	T	0.84	.	3.5775	0.07940	0.0:0.5439:0.2115:0.2446	.	240;265;230;265;265;265;240;265	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	T	265;240;240;265;265;265;265;230	ENSP00000264052:P265T;ENSP00000399389:P240T;ENSP00000387311:P240T;ENSP00000386404:P265T;ENSP00000386427:P265T;ENSP00000343023:P265T;ENSP00000342729:P265T;ENSP00000386998:P230T	ENSP00000264052:P265T	P	+	1	0	SP100	231023187	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	0.230000	0.17852	0.167000	0.19631	0.557000	0.71058	CCC	.		0.448	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		A	231314943	C	A	231314943	3	1	33	1	0	0	0	0	1	0	0	0	15005	739	26	3	823	3	SP100	2	231314943	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	400416	231314943	11884430	29	5101											
GIGYF2	26058	hgsc.bcm.edu	37	2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-	rs62640389|rs10555297|rs398061180|rs527464858|rs58340018	byFrequency	TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr2:233712228_233712230delCAG	ENST00000409547.1	+	29	3942_3944	c.3631_3633delCAG	c.(3631-3633)cagdel	p.Q1216del	GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	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)	p.Q1216delQ(2)|p.Q1237delQ(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)		gcagctgccacagcagcagcagc	0.547																																					p.1231_1232del		.											.,9	.	288	3	Deletion - In frame(3)	breast(2)|ovary(1)	c.3693_3695del						.																																			SO:0001651	inframe_deletion	26058	exon29			CTGCCACAGCAGC	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.3631_3633delCAG	2.37:g.233712237_233712239delCAG	ENSP00000386537:p.Gln1216del	36	0		57	0	NM_001103147	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	CCDS33401.1																																																																																			.		0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		-	233712230	CAG	-	233712228	7	5	33	1	0	1	0	1	0	0	0	0	6404	479	17	0	3799	0	GIGYF2	2	233712228	In_Frame_Del	DEL	CAG	TCGA-ZH-A8Y6-01A-11D-A417-09	2397285	233712228	9487145	30	5102											
BRPF1	7862	hgsc.bcm.edu	37	3	9785550	9785550	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:9785550C>T	ENST00000457855.1	+	7	2593	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V	BRPF1_ENST00000302054.3_Missense_Mutation_p.A861V|BRPF1_ENST00000383829.2_Missense_Mutation_p.A867V|BRPF1_ENST00000433861.2_Missense_Mutation_p.A861V|BRPF1_ENST00000424362.1_Missense_Mutation_p.A860V			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	861	Required for RUNX1 and RUNX2 transcriptional activation.				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)	p.A867V(1)		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)					ACAGATAGTGCGGCAGAGGAG	0.612																																					p.A867V		.											BRPF1,colon,carcinoma,0,1	BRPF1	0	1	Substitution - Missense(1)	large_intestine(1)	c.C2600T						.						52	37	42					3																	9785550		2202	4298	6500	SO:0001583	missense	7862	exon8			ATAGTGCGGCAGA	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.2582C>T	3.37:g.9785550C>T	ENSP00000410210:p.Ala861Val	26	0		40	2	NM_001003694	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651589	0.67472	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.16897	2.33;2.32;3.71;2.31;2.31	6.17	6.17	0.99709	.	0.171884	0.53938	D	0.000053	T	0.16981	0.0408	L	0.55481	1.735	0.58432	D	0.999992	P;B;B;B	0.42161	0.772;0.164;0.164;0.102	B;B;B;B	0.26969	0.075;0.026;0.026;0.012	T	0.03852	-1.0998	10	0.29301	T	0.29	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	861;860;867;861	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	V	861;860;867;861;861	ENSP00000402485:A861V;ENSP00000398863:A860V;ENSP00000373340:A867V;ENSP00000306297:A861V;ENSP00000410210:A861V	ENSP00000306297:A861V	A	+	2	0	BRPF1	9760550	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.672000	0.61597	2.941000	0.99782	0.655000	0.94253	GCG	.		0.612	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		T	9785550	C	T	9785550	3	4	33	1	0	0	0	0	1	0	0	0	1524	768	27	1	2626	1	BRPF1	3	9785550	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09		9785550	188236880	31	5103											
IRAK2	3656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	10268072	10268072	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:10268072C>T	ENST00000256458.4	+	10	1317	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CCGAGGTCCTCACGGGCATCC	0.537																																					p.L409L		.											.	.	.	0			c.C1227T						.						106	90	95					3																	10268072		2203	4297	6500	SO:0001819	synonymous_variant	3656	exon10			GGTCCTCACGGGC	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.1227C>T	3.37:g.10268072C>T		36	0		53	26	NM_001570	B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	CCDS33697.1																																																																																			.		0.537	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			T	10268072	C	T	10268072	2	4	33	1	0	0	0	0	0	0	0	1	7850	813	29	3		3	IRAK2	3	10268072	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	482522	10268072	187754358	32	5104											
IQSEC1	9922	hgsc.bcm.edu	37	3	12942851	12942851	+	Intron	SNP	C	C	G	rs397988742|rs56387830		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:12942851C>G	ENST00000273221.4	-	13	3064					NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1						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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGGGGTGGCCAGGGCTGGG	0.697																																					.		.											.,1	.	88	0			c.2976+1G>C						.						1	1	1					3																	12942851		180	413	593	SO:0001627	intron_variant	9922	exon15			GGGTGGCCAGGGC	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2847+1421G>C	3.37:g.12942851C>G		9	1		5	2	NM_001134382	O94863|Q96D85	Splice_Site	SNP	ENST00000273221.4	37	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|-	0.001|0.001	-2.938040|-2.938040	0.00052|0.00052	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000435445|ENST00000429247	.|T	.|0.43294	.|0.95	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30230	.|0.0758	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27971	.|-1.0058	.|4	.|0.29301	.|T	.|0.29	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|P	-1|993	.|ENSP00000402299:A993P	.|ENSP00000402299:A993P	.|A	-|-	.|1	.|0	IQSEC1|IQSEC1	12917851|12917851	0.031000|0.031000	0.19500|0.19500	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	-0.760000|-0.760000	0.04756|0.04756	0.000000|0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	.|GCC	.		0.697	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		G	12942851	C	G	12942851	1	3	33	0	1	0	0	0	0	0	0	0	7844	739	26	5		5	IQSEC1	3	12942851	Intron	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	2674779	12942851	185079579	33	5105											
CCK	885	broad.mit.edu	37	3	42304951	42304951	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:42304951G>T	ENST00000396169.2	-	4	1077	c.172C>A	c.(172-174)Ctg>Atg	p.L58M	CCK_ENST00000334681.5_Missense_Mutation_p.L58M|CCK_ENST00000434608.1_Missense_Mutation_p.L58M	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	58					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		AGGGCGCCCAGGTGCGCTCGG	0.667																																					p.L58M													.	CCK	15	0			c.C172A						.						64	75	71					3																	42304951		2201	4300	6501	SO:0001583	missense	885	exon4			CGCCCAGGTGCGC		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"Endogenous ligands"	1569	protein-coding gene	gene with protein product	"prepro-cholecystokinin", "cholecystokinin triacontatriapeptide"	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.172C>A	3.37:g.42304951G>T	ENSP00000379472:p.Leu58Met	26	0		37	3	NM_000729		Missense_Mutation	SNP	ENST00000396169.2	37	CCDS2696.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924684	0.73213	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.26518	1.73;1.73;1.73	5.36	4.47	0.54385	Gastrin/cholecystokinin peptide hormone (1);	0.253635	0.39834	N	0.001255	T	0.49898	0.1584	M	0.86178	2.8	0.39087	D	0.961014	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.977	T	0.55724	-0.8096	10	0.62326	D	0.03	-32.5924	7.5888	0.28008	0.0845:0.0:0.6603:0.2553	.	58;58	B7Z6Q9;P06307	.;CCKN_HUMAN	M	58	ENSP00000379472:L58M;ENSP00000335657:L58M;ENSP00000409124:L58M	ENSP00000335657:L58M	L	-	1	2	CCK	42279955	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.831000	0.48144	2.675000	0.91044	0.655000	0.94253	CTG	.		0.667	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729		T	42304951	G	T	42304951	3	4	33	1	0	0	0	0	1	0	0	0	2886	991	35	3	183	3	CCK	3	42304951	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	29362100	42304951	155717479	34	5106											
COL7A1	1294	hgsc.bcm.edu;broad.mit.edu	37	3	48625832	48625832	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:48625832C>T	ENST00000328333.8	-	20	2700	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K	COL7A1_ENST00000454817.1_Missense_Mutation_p.E865K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	865	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				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)		GGCGGAGCCTCAGGCGCTGGA	0.701																																					p.E865K		.											.	.	.	0			c.G2593A						.						15	17	17					3																	48625832		2201	4297	6498	SO:0001583	missense	1294	exon20			GAGCCTCAGGCGC	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.2593G>A	3.37:g.48625832C>T	ENSP00000332371:p.Glu865Lys	9	0		16	5	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299134	0.60195	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.55052	0.54;0.54	4.94	4.94	0.65067	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.304822	0.22750	N	0.056096	T	0.49304	0.1549	L	0.53249	1.67	0.31049	N	0.715463	B	0.31318	0.319	B	0.27608	0.081	T	0.55309	-0.8161	10	0.37606	T	0.19	.	17.6105	0.88051	0.0:1.0:0.0:0.0	.	865	Q02388	CO7A1_HUMAN	K	865	ENSP00000332371:E865K;ENSP00000412569:E865K	ENSP00000332371:E865K	E	-	1	0	COL7A1	48600836	0.000000	0.05858	0.491000	0.27477	0.325000	0.28411	0.822000	0.27352	2.658000	0.90341	0.655000	0.94253	GAG	.		0.701	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48625832	C	T	48625832	3	4	33	1	0	0	0	0	1	0	0	0	3711	835	29	3	6637	3	COL7A1	3	48625832	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	6320881	48625832	149396598	35	5107											
MST1	63891	hgsc.bcm.edu	37	3	49725198	49725198	+	5'Flank	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:49725198G>A	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Missense_Mutation_p.P76L|MST1_ENST00000383728.3_Intron|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_Missense_Mutation_p.P62L|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_Intron	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.P62L(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)		GTCCATTAAGGGCCCACAGCG	0.637																																					p.P76L		.											MST1,trunk,malignant_melanoma,0,1	MST1	0	1	Substitution - Missense(1)	skin(1)	c.C227T						.						44	41	42					3																	49725198		2203	4300	6503	SO:0001631	upstream_gene_variant	4485	exon2			ATTAAGGGCCCAC	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.49725198G>A	Exception_encountered	42	0		61	4	NM_020998	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	7.785	0.710389	0.15239	.	.	ENSG00000173531	ENST00000449682;ENST00000545762	D;D	0.88354	-2.37;-2.37	4.78	2.81	0.32909	.	0.419544	0.18118	N	0.151133	T	0.81800	0.4899	L	0.36672	1.1	0.09310	N	1	B;B	0.22346	0.068;0.045	B;B	0.24006	0.05;0.02	T	0.66889	-0.5809	10	0.21014	T	0.42	.	10.1763	0.42941	0.0:0.1256:0.6471:0.2272	.	62;76	B7Z538;G3XAK1	.;.	L	76;62	ENSP00000414287:P76L;ENSP00000437535:P62L	ENSP00000411117:P76L	P	-	2	0	MST1	49700202	0.943000	0.32029	0.037000	0.18230	0.730000	0.41778	3.902000	0.56310	1.342000	0.45619	0.591000	0.81541	CCC	.		0.637	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49725198	G	A	49725198	1	1	33	0	1	0	0	0	0	0	0	0	9928	1232	43	3		3	MST1	3	49725198	5'Flank	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	1099366	49725198	148297232	36	5108											
APPL1	26060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	57283498	57283498	+	Missense_Mutation	SNP	T	T	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:57283498T>G	ENST00000288266.3	+	11	1121	c.974T>G	c.(973-975)aTa>aGa	p.I325R		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|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)		GCCATGGACATAGACAACTGT	0.448																																					p.I325R		.											.	.	.	0			c.T974G						.						159	145	150					3																	57283498		2203	4300	6503	SO:0001583	missense	26060	exon11			TGGACATAGACAA	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.974T>G	3.37:g.57283498T>G	ENSP00000288266:p.Ile325Arg	60	0		97	6	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988509	0.74589	.	.	ENSG00000157500	ENST00000288266	T	0.46819	0.86	6.06	6.06	0.98353	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.049528	0.85682	D	0.000000	T	0.47060	0.1425	L	0.53249	1.67	0.80722	D	1	B;P	0.38110	0.256;0.618	B;B	0.36335	0.112;0.222	T	0.51505	-0.8697	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	308;325	B4DQX8;Q9UKG1	.;DP13A_HUMAN	R	325	ENSP00000288266:I325R	ENSP00000288266:I325R	I	+	2	0	APPL1	57258538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.251000	0.72441	2.323000	0.78572	0.528000	0.53228	ATA	.		0.448	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		G	57283498	T	G	57283498	3	3	33	1	0	0	0	0	1	0	0	0	817	1406	49	4	1016	4	APPL1	3	57283498	Missense_Mutation	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	7558300	57283498	140738932	37	5109											
DNASE1L3	1776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	58190532	58190532	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:58190532C>G	ENST00000394549.2	-	4	713	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.E133Q|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.E133Q|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.E103Q	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	133					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)		ACAAAGGGCTCCCTGGAAAAC	0.522																																					p.E133Q	Esophageal Squamous(96;1069 1424 4841 43466 52325)	.											.	.	.	0			c.G397C						.						128	115	119					3																	58190532		2203	4300	6503	SO:0001583	missense	1776	exon4			AGGGCTCCCTGGA	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.397G>C	3.37:g.58190532C>G	ENSP00000378053:p.Glu133Gln	58	0		51	23	NM_004944	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374837	0.82573	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549;ENST00000461914	T;T;T;T;T;T	0.80653	-1.38;-1.4;-1.4;0.58;-1.4;0.58	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);	0.083012	0.51477	D	0.000100	D	0.91250	0.7242	M	0.85945	2.785	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.99;0.991;0.991	D	0.91782	0.5436	10	0.87932	D	0	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	103;133;133	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	Q	103;133;133;133;7;133;133	ENSP00000419052:E103Q;ENSP00000316193:E133Q;ENSP00000417047:E133Q;ENSP00000417976:E7Q;ENSP00000378053:E133Q;ENSP00000418113:E133Q	ENSP00000316193:E133Q	E	-	1	0	DNASE1L3	58165572	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.628000	0.83189	2.745000	0.94114	0.655000	0.94253	GAG	.		0.522	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		G	58190532	C	G	58190532	3	3	33	1	0	0	0	0	1	0	0	0	4677	864	30	5	540	5	DNASE1L3	3	58190532	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	907034	58190532	139831898	38	5110											
SLC25A26	115286	hgsc.bcm.edu;bcgsc.ca	37	3	66312519	66312519	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:66312519G>T	ENST00000413054.1	+	2	155	c.81G>T	c.(79-81)agG>agT	p.R27S	SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.R27S|SLC25A26_ENST00000354883.6_Missense_Mutation_p.R115S|SLC25A26_ENST00000536651.1_3'UTR			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	115					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)			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)		TTAAGCAGAGGGCACAGGTAT	0.333																																					p.R115S		.											.	.	.	0			c.G345T						.						70	67	68					3																	66312519		2203	4299	6502	SO:0001583	missense	115286	exon5			GCAGAGGGCACAG	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	ENST00000413054.1:c.81G>T	3.37:g.66312519G>T	ENSP00000415304:p.Arg27Ser	64	0		70	4	NM_173471	A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	ENST00000413054.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.000648|4.000648	0.74818|0.74818	.|.	.|.	ENSG00000144741|ENSG00000144741	ENST00000413054|ENST00000354883;ENST00000336733	.|D;D	.|0.84370	.|-1.84;-1.84	5.2|5.2	3.38|3.38	0.38709|0.38709	.|Mitochondrial carrier domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92407|0.92407	0.7590|0.7590	M|M	0.93241|0.93241	3.395|3.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.61080	.|0.987;0.989	.|P;P	.|0.61722	.|0.828;0.893	D|D	0.92972|0.92972	0.6398|0.6398	5|10	.|0.87932	.|D	.|0	-3.8564|-3.8564	9.8059|9.8059	0.40792|0.40792	0.2204:0.0:0.7796:0.0|0.2204:0.0:0.7796:0.0	.|.	.|115;115	.|F8WAB8;Q70HW3	.|.;SAMC_HUMAN	V|S	52|115;27	.|ENSP00000346955:R115S;ENSP00000336801:R27S	.|ENSP00000336801:R27S	G|R	+|+	2|3	0|2	SLC25A26|SLC25A26	66395209|66395209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.654000|3.654000	0.54453|0.54453	1.325000|1.325000	0.45301|0.45301	-0.258000|-0.258000	0.10820|0.10820	GGG|AGG	.		0.333	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	NM_173471		T	66312519	G	T	66312519	3	4	33	1	0	0	0	0	1	0	0	0	14534	1223	43	3	161	3	SLC25A26	3	66312519	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	8121987	66312519	131709911	39	5111											
IMPG2	50939	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	100951689	100951689	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:100951689G>T	ENST00000193391.7	-	15	3356	c.3169C>A	c.(3169-3171)Cag>Aag	p.Q1057K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1057	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AAGTCAGGCTGTAGGTCACAG	0.493																																					p.Q1057K		.											.	.	.	0			c.C3169A						.						101	87	91					3																	100951689		2203	4300	6503	SO:0001583	missense	50939	exon15			CAGGCTGTAGGTC	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3169C>A	3.37:g.100951689G>T	ENSP00000193391:p.Gln1057Lys	44	0		47	4	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503357	0.85176	.	.	ENSG00000081148	ENST00000193391;ENST00000417518	T	0.24151	1.87	5.88	4.99	0.66335	Epidermal growth factor-like, type 3 (1);	0.162599	0.43110	N	0.000606	T	0.32734	0.0839	L	0.51422	1.61	0.38597	D	0.950565	B;B	0.31519	0.327;0.327	B;B	0.42653	0.394;0.394	T	0.27226	-1.0080	10	0.56958	D	0.05	-2.9547	11.8387	0.52342	0.0:0.1327:0.7294:0.1379	.	1057;1057	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	1057;17	ENSP00000193391:Q1057K	ENSP00000193391:Q1057K	Q	-	1	0	IMPG2	102434379	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	5.199000	0.65152	1.451000	0.47736	0.561000	0.74099	CAG	.		0.493	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			T	100951689	G	T	100951689	3	4	33	1	0	0	0	0	1	0	0	0	7756	1386	48	3	576	3	IMPG2	3	100951689	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	34639170	100951689	97070741	40	5112											
TM4SF4	7104	hgsc.bcm.edu	37	3	149216522	149216522	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:149216522G>T	ENST00000305354.4	+	4	1319	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	139					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.D139Y(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTATCTCAATGATGAGGCCTT	0.448																																					p.D139Y		.											TM4SF4,NS,carcinoma,0,1	TM4SF4	0	1	Substitution - Missense(1)	lung(1)	c.G415T						.						80	79	80					3																	149216522		1904	4126	6030	SO:0001583	missense	7104	exon4			CTCAATGATGAGG		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"transmembrane 4 superfamily member 4"			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.415G>T	3.37:g.149216522G>T	ENSP00000305852:p.Asp139Tyr	51	0		41	2	NM_004617	B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978692	0.53720	.	.	ENSG00000169903	ENST00000305354	T	0.38401	1.14	5.9	3.16	0.36331	.	0.136777	0.64402	D	0.000002	T	0.55641	0.1933	M	0.77486	2.375	0.25526	N	0.987329	D	0.76494	0.999	D	0.71414	0.973	T	0.49041	-0.8980	10	0.66056	D	0.02	.	8.5154	0.33242	0.3534:0.0:0.6466:0.0	.	139	P48230	T4S4_HUMAN	Y	139	ENSP00000305852:D139Y	ENSP00000305852:D139Y	D	+	1	0	TM4SF4	150699212	0.732000	0.28121	0.003000	0.11579	0.129000	0.20672	1.324000	0.33712	0.406000	0.25560	0.650000	0.86243	GAT	.		0.448	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			T	149216522	G	T	149216522	3	4	33	1	0	0	0	0	1	0	0	0	16017	1290	45	3	429	3	TM4SF4	3	149216522	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	48264833	149216522	48805908	41	5113											
FAM194A	131831	hgsc.bcm.edu	37	3	150421519	150421519	+	Missense_Mutation	SNP	A	A	T	rs573303855	byFrequency	TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	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		.											FAM194A,NS,carcinoma,0,1	FAM194A	0	1	Substitution - Missense(1)	endometrium(1)	c.T167A						.						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	10	1		12	3	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	.		0.607	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			T	150421519	A	T	150421519	3	4	33	1	0	0	0	0	1	0	0	0	5545	159	6	5	1880	5	FAM194A	3	150421519	Missense_Mutation	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09	1204997	150421519	47600911	42	5114											
AADAC	13	bcgsc.ca	37	3	151545859	151545859	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr3:151545859C>A	ENST00000232892.7	+	5	1225	c.1099C>A	c.(1099-1101)Cat>Aat	p.H367N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	367					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)			GACTCATAACCATGTTGAGGA	0.398																																					p.H367N	Ovarian(30;839 841 2699 32801 46334)												.	AADAC	49	0			c.C1099A						.						99	97	97					3																	151545859		2203	4299	6502	SO:0001583	missense	13	exon5			CATAACCATGTTG	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.1099C>A	3.37:g.151545859C>A	ENSP00000232892:p.His367Asn	45	0		58	4	NM_001086	A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622932	0.46840	.	.	ENSG00000114771	ENST00000232892	T	0.10960	2.82	4.79	3.92	0.45320	Alpha/beta hydrolase fold-3 (1);	0.048768	0.85682	N	0.000000	T	0.30008	0.0751	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02333	-1.1175	10	0.87932	D	0	-26.8869	12.7395	0.57243	0.0:0.9197:0.0:0.0803	.	367	P22760	AAAD_HUMAN	N	367	ENSP00000232892:H367N	ENSP00000232892:H367N	H	+	1	0	AADAC	153028549	1.000000	0.71417	0.237000	0.24090	0.244000	0.25665	5.245000	0.65405	1.002000	0.39104	0.591000	0.81541	CAT	.		0.398	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		A	151545859	C	A	151545859	3	1	33	1	0	0	0	0	1	0	0	0	10	594	21	3	1117	3	AADAC	3	151545859	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	1124340	151545859	46476571	43	5115											
STBD1	100631383	hgsc.bcm.edu	37	4	77230789	77230789	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr4:77230789C>T	ENST00000237642.6	+	2	1457	c.713C>T	c.(712-714)aCt>aTt	p.T238I	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.T89I	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough									p.T238N(1)									GGAAGAAGCACTTTGGTGGAA	0.512																																					p.T238I		.											STBD1,NS,carcinoma,0,1	STBD1	0	1	Substitution - Missense(1)	endometrium(1)	c.C713T						.						96	79	85					4																	77230789		2203	4300	6503	SO:0001583	missense	8987	exon2			GAAGCACTTTGGT		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.713C>T	4.37:g.77230789C>T	ENSP00000237642:p.Thr238Ile	25	0		47	2	NM_003943		Missense_Mutation	SNP	ENST00000237642.6	37	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	C	2.843	-0.239969	0.05944	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	.	.	.	4.78	-2.94	0.05581	.	1.090610	0.07115	N	0.842942	T	0.28466	0.0704	L	0.42245	1.32	0.09310	N	1	B	0.30068	0.267	B	0.23716	0.048	T	0.14504	-1.0470	9	0.42905	T	0.14	0.8279	3.8856	0.09097	0.1069:0.2593:0.4351:0.1987	.	238	O95210	STBD1_HUMAN	I	89;238	.	ENSP00000237642:T238I	T	+	2	0	STBD1	77449813	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.368000	0.02580	-1.037000	0.03283	-0.165000	0.13383	ACT	.		0.512	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			T	77230789	C	T	77230789	3	4	33	1	0	0	0	0	1	0	0	0	15321	565	20	3	719	3	STBD1	4	77230789	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09		77230789	113923487	44	5116											
THAP9	79725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	83839757	83839757	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr4:83839757T>C	ENST00000302236.5	+	5	2443	c.2392T>C	c.(2392-2394)Tat>Cat	p.Y798H	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	798					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAGGGAATTGTATCTTCAACA	0.348																																					p.Y798H		.											.	.	.	0			c.T2392C						.						66	69	68					4																	83839757		2203	4299	6502	SO:0001583	missense	79725	exon5			GAATTGTATCTTC	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2392T>C	4.37:g.83839757T>C	ENSP00000305533:p.Tyr798His	17	0		20	7	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	T	8.817	0.936616	0.18206	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90563	-2.69	3.82	2.63	0.31362	.	1.083990	0.07242	N	0.864441	D	0.83603	0.5290	N	0.22421	0.69	0.58432	D	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.72207	-0.4360	10	0.39692	T	0.17	-5.1625	7.7679	0.28991	0.0:0.0987:0.0:0.9013	.	798	Q9H5L6	THAP9_HUMAN	H	798	ENSP00000305533:Y798H	ENSP00000305533:Y798H	Y	+	1	0	THAP9	84058781	0.232000	0.23762	0.367000	0.25926	0.607000	0.37147	1.420000	0.34804	0.810000	0.34279	-0.290000	0.09829	TAT	.		0.348	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		C	83839757	T	C	83839757	3	2	33	1	0	0	0	0	1	0	0	0	15898	1638	57	4	2410	4	THAP9	4	83839757	Missense_Mutation	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	6608968	83839757	107314519	45	5117											
MAML3	55534	hgsc.bcm.edu	37	4	140811120	140811120	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr4:140811120C>T	ENST00000509479.2	-	2	2326	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	MAML3_ENST00000327122.5_Silent_p.Q334Q|MAML3_ENST00000398940.1_Silent_p.Q29Q	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)					gctgctgctgctgttgctgtt	0.547																																					p.Q490Q		.											MAML3_ENST00000509479,colon,carcinoma,0,2	MAML3_ENST00000509479	0	0			c.G1470A						.						16	20	19					4																	140811120		2194	4290	6484	SO:0001819	synonymous_variant	55534	exon2			CTGCTGCTGTTGC	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.1470G>A	4.37:g.140811120C>T		14	0		14	3	NM_018717		Silent	SNP	ENST00000509479.2	37	CCDS54805.1																																																																																			.		0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	140811120	C	T	140811120	2	4	33	1	0	0	0	0	0	0	0	1	9245	796	28	3		3	MAML3	4	140811120	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	56971363	140811120	50343156	46	5118											
DCHS2	54798	hgsc.bcm.edu	37	4	155312413	155312413	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr4:155312413C>A	ENST00000357232.4	-	1	36	c.37G>T	c.(37-39)Gac>Tac	p.D13Y	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	13					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)		ttttctccgtcttcattctct	0.373																																					p.D13Y		.											DCHS2,right_upper_lobe,carcinoma,0,1	DCHS2	0	0			c.G37T						.						179	153	161					4																	155312413		2202	4299	6501	SO:0001583	missense	54798	exon1			CTCCGTCTTCATT	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.37G>T	4.37:g.155312413C>A	ENSP00000349768:p.Asp13Tyr	46	0		39	2	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	6.735	0.504325	0.12822	.	.	ENSG00000197410	ENST00000357232	T	0.56444	0.46	3.27	0.463	0.16700	.	3.135340	0.01445	U	0.015266	T	0.28300	0.0699	N	0.08118	0	0.09310	N	0.999999	P	0.46277	0.875	B	0.35353	0.201	T	0.26224	-1.0109	10	0.72032	D	0.01	.	2.5725	0.04798	0.232:0.5047:0.0:0.2633	.	13	Q6V1P9	PCD23_HUMAN	Y	13	ENSP00000349768:D13Y	ENSP00000349768:D13Y	D	-	1	0	DCHS2	155531863	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.399000	0.07250	0.046000	0.15833	-0.293000	0.09583	GAC	.		0.373	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155312413	C	A	155312413	3	1	33	1	0	0	0	0	1	0	0	0	4297	913	32	3	8909	3	DCHS2	4	155312413	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	14501293	155312413	35841863	47	5119											
ODZ3	55714	hgsc.bcm.edu	37	4	183714515	183714515	+	Silent	SNP	C	C	T	rs369647107		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr4:183714515C>T	ENST00000511685.1	+	26	6813	c.6690C>T	c.(6688-6690)gaC>gaT	p.D2230D	TENM3_ENST00000406950.2_Silent_p.D2230D			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2230					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)										ACCGTTATGACGGCCTGGGAA	0.458																																					p.D2230D		.											ODZ3,NS,carcinoma,0,1	ODZ3	0	0			c.C6690T						.	C		1,3787		0,1,1893	80	82	81		6690	-8.1	0	4		81	0,8246		0,0,4123	no	coding-synonymous	ODZ3	NM_001080477.1		0,1,6016	TT,TC,CC		0.0,0.0264,0.0083		2230/2700	183714515	1,12033	1894	4123	6017	SO:0001819	synonymous_variant	55714	exon25			TTATGACGGCCTG	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.6690C>T	4.37:g.183714515C>T		25	0		36	3	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																			.		0.458	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183714515	C	T	183714515	2	4	33	1	0	0	0	0	0	0	0	1	10875	535	19	1		1	ODZ3	4	183714515	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	28402102	183714515	7439761	48	5120											
LPCAT1	79888	hgsc.bcm.edu	37	5	1489863	1489863	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:1489863G>T	ENST00000283415.3	-	4	736	c.604C>A	c.(604-606)Cag>Aag	p.Q202K		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	202					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.Q202E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGCATTACCTGTGGCCACTTT	0.532																																					p.Q202K		.											LPCAT1,colon,carcinoma,0,1	LPCAT1	0	1	Substitution - Missense(1)	large_intestine(1)	c.C604A						.						185	176	179					5																	1489863		2203	4300	6503	SO:0001583	missense	79888	exon4			TTACCTGTGGCCA	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.604C>A	5.37:g.1489863G>T	ENSP00000283415:p.Gln202Lys	41	0		39	2	NM_024830	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550670	0.65311	.	.	ENSG00000153395	ENST00000283415	D	0.93076	-3.16	4.19	4.19	0.49359	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.78344	2.41	0.80722	D	1	P	0.46987	0.888	P	0.48952	0.596	D	0.94944	0.8094	10	0.49607	T	0.09	-17.2479	16.8802	0.86061	0.0:0.0:1.0:0.0	.	202	Q8NF37	PCAT1_HUMAN	K	202	ENSP00000283415:Q202K	ENSP00000283415:Q202K	Q	-	1	0	LPCAT1	1542863	1.000000	0.71417	0.883000	0.34634	0.047000	0.14425	8.497000	0.90488	2.050000	0.60909	0.561000	0.74099	CAG	.		0.532	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		T	1489863	G	T	1489863	3	4	33	1	0	0	0	0	1	0	0	0	8945	1386	48	3	1044	3	LPCAT1	5	1489863	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		1489863	179425397	49	5121											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	13753419	13753419	+	Missense_Mutation	SNP	G	G	T	rs202232031		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:13753419G>T	ENST00000265104.4	-	63	10899	c.10795C>A	c.(10795-10797)Cgt>Agt	p.R3599S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3599	AAA 5. {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)					AAAGGGTAACGAGATGCCTTC	0.373									Kartagener syndrome																												p.R3599S		.											DNAH5,NS,malignant_melanoma,0,1	DNAH5	0	0			c.C10795A						.						117	107	110					5																	13753419		2203	4300	6503	SO:0001583	missense	1767	exon63	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GGTAACGAGATGC	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.10795C>A	5.37:g.13753419G>T	ENSP00000265104:p.Arg3599Ser	35	0		57	4	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880544	0.91740	.	.	ENSG00000039139	ENST00000265104	T	0.68181	-0.31	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.79475	2.455	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.80417	-0.1391	10	0.40728	T	0.16	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	3599	Q8TE73	DYH5_HUMAN	S	3599	ENSP00000265104:R3599S	ENSP00000265104:R3599S	R	-	1	0	DNAH5	13806419	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.201000	0.72124	2.880000	0.98712	0.650000	0.86243	CGT	.		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13753419	G	T	13753419	3	4	33	1	0	0	0	0	1	0	0	0	4618	1058	37	2	3147	2	DNAH5	5	13753419	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	12263556	13753419	167161841	50	5122											
PDZD2	23037	hgsc.bcm.edu	37	5	32071524	32071524	+	Splice_Site	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:32071524G>A	ENST00000438447.1	+	16	2956	c.2568G>A	c.(2566-2568)aaG>aaA	p.K856K	PDZD2_ENST00000282493.3_Splice_Site_p.K856K			O15018	PDZD2_HUMAN	PDZ domain containing 2	856					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						TTGCAAAAAAGGTGAGTCAAG	0.498																																					p.K856K		.											.	.	.	0			c.G2568A						.						132	131	131					5																	32071524		2203	4300	6503	SO:0001630	splice_region_variant	23037	exon15			AAAAAAGGTGAGT	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.2568+1G>A	5.37:g.32071524G>A		90	0		90	4	NM_178140	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																			.		0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		Silent	A	32071524	G	A	32071524	5	1	33	1	0	0	0	0	0	0	1	0	11740	1014	35	3	2626	3	PDZD2	5	32071524	Splice_Site	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	18318105	32071524	148843736	51	5123											
PCSK1	5122	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	95746636	95746636	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:95746636G>T	ENST00000311106.3	-	8	1174	c.937C>A	c.(937-939)Cag>Aag	p.Q313K	PCSK1_ENST00000508626.1_Missense_Mutation_p.Q266K|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	313	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTATCTCCCTGACGCCCCCCG	0.527																																					p.Q313K		.											.	.	.	0			c.C937A						.						193	177	182					5																	95746636		2203	4300	6503	SO:0001583	missense	5122	exon8			CTCCCTGACGCCC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.937C>A	5.37:g.95746636G>T	ENSP00000308024:p.Gln313Lys	53	0		65	4	NM_000439	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754408	0.49362	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.87179	-2.22;-2.22	5.62	5.62	0.85841	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	N	0.02830	-0.485	0.58432	D	0.999993	B	0.25850	0.136	B	0.26094	0.066	T	0.70479	-0.4860	10	0.23891	T	0.37	-14.7685	19.2542	0.93940	0.0:0.0:1.0:0.0	.	313	P29120	NEC1_HUMAN	K	313;266	ENSP00000308024:Q313K;ENSP00000421600:Q266K	ENSP00000308024:Q313K	Q	-	1	0	PCSK1	95772392	1.000000	0.71417	0.981000	0.43875	0.941000	0.58515	5.827000	0.69300	2.631000	0.89168	0.650000	0.86243	CAG	.		0.527	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		T	95746636	G	T	95746636	3	4	33	1	0	0	0	0	1	0	0	0	11639	1299	45	3	1352	3	PCSK1	5	95746636	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	63675112	95746636	85168624	52	5124											
RAD50	10111	hgsc.bcm.edu	37	5	131927041	131927041	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:131927041G>T	ENST00000265335.6	+	10	1965	c.1578G>T	c.(1576-1578)gaG>gaT	p.E526D	RAD50_ENST00000378823.3_Missense_Mutation_p.E387D			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	526					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.E387D(1)|p.E526D(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAGATGGAGCAGTTAAACC	0.363								Homologous recombination																													p.E526D		.											RAD50_ENST00000265335,NS,carcinoma,0,2	RAD50_ENST00000265335	0	2	Substitution - Missense(2)	endometrium(2)	c.G1578T						.						116	103	107					5																	131927041		2203	4300	6503	SO:0001583	missense	10111	exon10			GATGGAGCAGTTA	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1578G>T	5.37:g.131927041G>T	ENSP00000265335:p.Glu526Asp	29	0		41	2	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.12|12.12	1.841379|1.841379	0.32513|0.32513	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000434288|ENST00000378823;ENST00000265335	.|T;T	.|0.04970	.|3.52;3.75	5.7|5.7	3.52|3.52	0.40303|0.40303	.|.	.|0.090737	.|0.85682	.|D	.|0.000000	T|T	0.06962|0.06962	0.0177|0.0177	L|L	0.53249|0.53249	1.67|1.67	0.50632|0.50632	D|D	0.999881|0.999881	.|B	.|0.24317	.|0.101	.|B	.|0.17098	.|0.017	T|T	0.20874|0.20874	-1.0262|-1.0262	5|10	.|0.15952	.|T	.|0.53	-19.619|-19.619	11.4923|11.4923	0.50387|0.50387	0.2263:0.0:0.7737:0.0|0.2263:0.0:0.7737:0.0	.|.	.|526	.|Q92878	.|RAD50_HUMAN	S|D	25|387;526	.|ENSP00000368100:E387D;ENSP00000265335:E526D	.|ENSP00000265335:E526D	A|E	+|+	1|3	0|2	RAD50|RAD50	131954940|131954940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.688000|1.688000	0.37690|0.37690	1.341000|1.341000	0.45600|0.45600	0.655000|0.655000	0.94253|0.94253	GCA|GAG	.		0.363	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		T	131927041	G	T	131927041	3	4	33	1	0	0	0	0	1	0	0	0	13029	962	34	3	1616	3	RAD50	5	131927041	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	36180405	131927041	48988219	53	5125											
PCDHGA3	56112	hgsc.bcm.edu	37	5	140725547	140725547	+	Silent	SNP	C	C	T	rs544633115	byFrequency	TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:140725547C>T	ENST00000253812.6	+	1	1947	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	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	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	5008	,	,		14827	0		0.001	False		,,,				2504	0				p.H649H		.											PCDHGA3_ENST00000253812,NS,carcinoma,0,1	PCDHGA3_ENST00000253812	0	1	Substitution - coding silent(1)	kidney(1)	c.C1947T						.						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		45	1		84	9	NM_032011	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.		0.711	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725547	C	T	140725547	2	4	33	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHGA3	5	140725547	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	8798506	140725547	40189713	54	5126											
PCDHGA10	56106	hgsc.bcm.edu	37	5	140795103	140795103	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:140795103G>T	ENST00000398610.2	+	1	2361	c.2361G>T	c.(2359-2361)gaG>gaT	p.E787D	PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	787					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)			TCAGCCAGGAGAGCTGTGAGA	0.468																																					p.E787D		.											.	.	.	0			c.G2361T						.						89	96	94					5																	140795103		2203	4300	6503	SO:0001583	missense	56106	exon1			CCAGGAGAGCTGT		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.2361G>T	5.37:g.140795103G>T	ENSP00000381611:p.Glu787Asp	101	0		97	4	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	8.336	0.827618	0.16749	.	.	ENSG00000253846	ENST00000398610	D	0.94687	-3.49	5.42	3.62	0.41486	.	.	.	.	.	D	0.91439	0.7298	M	0.64676	1.99	0.18873	N	0.999987	B;B	0.19331	0.035;0.005	B;B	0.23018	0.043;0.009	T	0.79752	-0.1671	9	0.20046	T	0.44	.	6.9595	0.24590	0.1543:0.3647:0.481:0.0	.	787;787	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	D	787	ENSP00000381611:E787D	ENSP00000381611:E787D	E	+	3	2	PCDHGA10	140775287	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.193000	0.32162	0.655000	0.30866	-0.140000	0.14226	GAG	.		0.468	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		T	140795103	G	T	140795103	3	4	33	1	0	0	0	0	1	0	0	0	11590	933	33	3	2363	3	PCDHGA10	5	140795103	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	69556	140795103	40120157	55	5127											
ANXA6	309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	150484839	150484839	+	Silent	SNP	G	G	C			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:150484839G>C	ENST00000354546.5	-	24	2033	c.1806C>G	c.(1804-1806)ctC>ctG	p.L602L	ANXA6_ENST00000377751.5_Silent_p.L259L|ANXA6_ENST00000523714.1_Silent_p.L570L|ANXA6_ENST00000521512.1_Silent_p.L389L|ANXA6_ENST00000356496.5_Silent_p.L596L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	602					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCAAAGAAGAGAGGCTTGT	0.493																																					p.L602L		.											.	.	.	0			c.C1806G						.						164	154	157					5																	150484839		1962	4158	6120	SO:0001819	synonymous_variant	309	exon24			AAAGAAGAGAGGC	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1806C>G	5.37:g.150484839G>C		51	0		30	11	NM_001155	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	CCDS47315.1																																																																																			.		0.493	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		C	150484839	G	C	150484839	2	2	33	1	0	0	0	0	0	0	0	1	722	929	33	5		5	ANXA6	5	150484839	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	9689736	150484839	30430421	56	5128											
FAM71B	153745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	156590618	156590618	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:156590618G>T	ENST00000302938.4	-	2	753	c.658C>A	c.(658-660)Cct>Act	p.P220T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	220						nucleus (GO:0005634)		p.P220A(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)			ACATCACAAGGCTTGTAGAGC	0.537																																					p.P220T		.											FAM71B,NS,carcinoma,0,1	FAM71B	0	1	Substitution - Missense(1)	lung(1)	c.C658A						.						110	109	109					5																	156590618		2203	4300	6503	SO:0001583	missense	153745	exon2			CACAAGGCTTGTA		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.658C>A	5.37:g.156590618G>T	ENSP00000305596:p.Pro220Thr	22	0		26	7	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	0.968	-0.701167	0.03255	.	.	ENSG00000170613	ENST00000302938	T	0.03524	3.9	3.96	-3.04	0.05412	.	2.437060	0.01627	N	0.023339	T	0.02767	0.0083	L	0.34521	1.04	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.40459	-0.9562	10	0.10902	T	0.67	5.8967	1.4698	0.02414	0.4578:0.1468:0.2463:0.1492	.	220	Q8TC56	FA71B_HUMAN	T	220	ENSP00000305596:P220T	ENSP00000305596:P220T	P	-	1	0	FAM71B	156523196	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.129000	0.10515	-0.734000	0.04843	-1.954000	0.00483	CCT	.		0.537	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		T	156590618	G	T	156590618	3	4	33	1	0	0	0	0	1	0	0	0	5630	1203	42	3	1163	3	FAM71B	5	156590618	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	6105779	156590618	24324642	57	5129											
F12	2161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	176832069	176832069	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr5:176832069C>T	ENST00000253496.3	-	6	563	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	172	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_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)		Ethanolamine Oleate(DB06689)	GCTGGCCAGCCGCTGGCAGTG	0.607									Hereditary Angioedema																												p.R172Q		.											.	.	.	0			c.G515A						.						26	27	27					5																	176832069		2203	4300	6503	SO:0001583	missense	2161	exon6	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	GCCAGCCGCTGGC	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.515G>A	5.37:g.176832069C>T	ENSP00000253496:p.Arg172Gln	26	0		29	7	NM_000505	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	1.736	-0.492891	0.04322	.	.	ENSG00000131187	ENST00000253496	D	0.88741	-2.42	5.86	-11.7	0.00046	Fibronectin, type I (2);	1.705140	0.03267	N	0.184168	T	0.67382	0.2887	N	0.05383	-0.06	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.61272	-0.7096	10	0.13108	T	0.6	.	1.0401	0.01557	0.3898:0.2326:0.1762:0.2015	.	172	P00748	FA12_HUMAN	Q	172	ENSP00000253496:R172Q	ENSP00000253496:R172Q	R	-	2	0	F12	176764675	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.747000	0.01827	-3.490000	0.00153	-3.265000	0.00048	CGG	.		0.607	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			T	176832069	C	T	176832069	3	4	33	1	0	0	0	0	1	0	0	0	5355	652	23	1	1368	1	F12	5	176832069	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	20241451	176832069	4083191	58	5130											
NHLRC1	378884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	18122100	18122100	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:18122100G>A	ENST00000340650.3	-	1	751	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	246					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCCCTTCCGCGAAGTCGACGT	0.602																																					p.F246F		.											.	.	.	0			c.C738T						.						41	45	44					6																	18122100		2203	4300	6503	SO:0001819	synonymous_variant	378884	exon1			TTCCGCGAAGTCG	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.738C>T	6.37:g.18122100G>A		43	0		56	13	NM_198586	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	ENST00000340650.3	37	CCDS4542.1																																																																																			.		0.602	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			A	18122100	G	A	18122100	2	1	33	1	0	0	0	0	0	0	0	1	10444	1049	37	1		1	NHLRC1	6	18122100	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		18122100	152992967	59	5131											
FAM65B	9750	bcgsc.ca	37	6	24836027	24836027	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:24836027G>A	ENST00000259698.4	-	16	2350	c.2175C>T	c.(2173-2175)acC>acT	p.T725T	FAM65B_ENST00000538035.1_Silent_p.T704T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	725					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						CTGCCACACTGGTCCCAACTC	0.557																																					p.T725T													.	FAM65B	134	0			c.C2175T						.						111	96	101					6																	24836027		692	1591	2283	SO:0001819	synonymous_variant	9750	exon16			CACACTGGTCCCA	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.2175C>T	6.37:g.24836027G>A		48	0		69	4	NM_014722	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	CCDS47383.1																																																																																			.		0.557	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			A	24836027	G	A	24836027	2	1	33	1	0	0	0	0	0	0	0	1	5622	1335	47	3		3	FAM65B	6	24836027	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	6713927	24836027	146279040	60	5132											
GABBR1	2550	hgsc.bcm.edu	37	6	29572676	29572676	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:29572676G>T	ENST00000377034.4	-	21	2864	c.2529C>A	c.(2527-2529)ttC>ttA	p.F843L	GABBR1_ENST00000377012.4_Missense_Mutation_p.F726L|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.F781L|GABBR1_ENST00000355973.3_Missense_Mutation_p.F726L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	843					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)	p.F843L(1)		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)	TATAGGAGGAGAAAACTATGG	0.512																																					p.F843L		.											GABBR1,NS,carcinoma,0,1	GABBR1	0	1	Substitution - Missense(1)	lung(1)	c.C2529A						.						150	100	118					6																	29572676		1511	2709	4220	SO:0001583	missense	2550	exon21			GGAGGAGAAAACT	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.2529C>A	6.37:g.29572676G>T	ENSP00000366233:p.Phe843Leu	34	0		48	2	NM_001470	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311864	0.60414	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.16	1.98	0.26296	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86611	0.5974	L	0.55481	1.735	0.80722	D	1	D;D;P	0.63046	0.992;0.992;0.619	D;D;P	0.76071	0.984;0.987;0.625	D	0.85673	0.1296	10	0.56958	D	0.05	-36.3274	7.8719	0.29571	0.329:0.0:0.671:0.0	.	781;843;726	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	L	726;781;726;843	ENSP00000348248:F726L;ENSP00000366215:F781L;ENSP00000366211:F726L;ENSP00000366233:F843L	ENSP00000348248:F726L	F	-	3	2	GABBR1	29680655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.960000	0.63673	0.659000	0.30945	0.655000	0.94253	TTC	.		0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			T	29572676	G	T	29572676	3	4	33	1	0	0	0	0	1	0	0	0	6179	933	33	3	368	3	GABBR1	6	29572676	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	4736649	29572676	141542391	61	5133											
C6orf81	221481	hgsc.bcm.edu	37	6	35715084	35715084	+	Missense_Mutation	SNP	C	C	T	rs372805979		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:35715084C>T	ENST00000373866.3	+	4	513	c.491C>T	c.(490-492)aCg>aTg	p.T164M	ARMC12_ENST00000288065.2_Missense_Mutation_p.T191M|ARMC12_ENST00000373869.3_Missense_Mutation_p.T164M			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	164						nucleus (GO:0005634)		p.T191M(2)									ATCTGGGACACGGAACTGCAC	0.537																																					p.T191M		.											C6orf81,colon,carcinoma,-1,3	C6orf81	-1	2	Substitution - Missense(2)	ovary(1)|breast(1)	c.C572T						.	C	MET/THR	0,4406		0,0,2203	158	147	151		572	2.5	0.4	6		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf81	NM_145028.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	191/368	35715084	1,13005	2203	4300	6503	SO:0001583	missense	221481	exon4			GGGACACGGAACT	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.491C>T	6.37:g.35715084C>T	ENSP00000362973:p.Thr164Met	28	0		45	2	NM_145028	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		.	.	.	.	.	.	.	.	.	.	C	9.974	1.226347	0.22542	0.0	1.16E-4	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.30714	1.52;1.52;1.52	4.3	2.46	0.29980	.	0.949125	0.08657	N	0.912980	T	0.04724	0.0128	N	0.03608	-0.345	0.09310	N	1	B;B	0.19445	0.005;0.036	B;B	0.11329	0.004;0.006	T	0.41142	-0.9525	10	0.49607	T	0.09	-4.933	7.1355	0.25525	0.0:0.7781:0.0:0.2219	.	164;191	Q5T9G4-3;Q5T9G4-2	.;.	M	164;191;164	ENSP00000362976:T164M;ENSP00000288065:T191M;ENSP00000362973:T164M	ENSP00000288065:T191M	T	+	2	0	C6orf81	35823062	0.100000	0.21855	0.394000	0.26270	0.794000	0.44872	0.757000	0.26433	0.254000	0.21573	0.462000	0.41574	ACG	.		0.537	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		T	35715084	C	T	35715084	3	4	33	1	0	0	0	0	1	0	0	0	2379	536	19	1	586	1	C6orf81	6	35715084	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	6142408	35715084	135399983	62	5134											
CUL7	9820	hgsc.bcm.edu	37	6	43007936	43007936	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:43007936G>T	ENST00000265348.3	-	22	4337	c.4252C>A	c.(4252-4254)Ctg>Atg	p.L1418M	CUL7_ENST00000535468.1_Missense_Mutation_p.L1502M			Q14999	CUL7_HUMAN	cullin 7	1418					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)		p.L1418V(1)		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)			GTGCCCCTCAGGTAGGAGGGC	0.577																																					p.L1502M		.											CUL7,NS,carcinoma,0,1	CUL7	0	1	Substitution - Missense(1)	lung(1)	c.C4504A						.						150	135	140					6																	43007936		2203	4300	6503	SO:0001583	missense	9820	exon22			CCCTCAGGTAGGA	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.4252C>A	6.37:g.43007936G>T	ENSP00000265348:p.Leu1418Met	27	0		50	2	NM_001168370	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037615	0.75617	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.84944	-1.92;-1.92	5.71	4.81	0.61882	Cullin, N-terminal (1);Cullin homology (2);	0.065979	0.64402	N	0.000008	D	0.88280	0.6394	L	0.55743	1.74	0.44424	D	0.997343	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	P;D;D;D	0.91635	0.87;0.921;0.945;0.999	D	0.89839	0.4001	10	0.66056	D	0.02	-4.7184	15.6922	0.77464	0.0:0.0:0.862:0.138	.	1502;1418;1502;1418	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	M	1418;1502	ENSP00000265348:L1418M;ENSP00000438788:L1502M	ENSP00000265348:L1418M	L	-	1	2	CUL7	43115914	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	3.792000	0.55476	1.346000	0.45694	0.561000	0.74099	CTG	.		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		T	43007936	G	T	43007936	3	4	33	1	0	0	0	0	1	0	0	0	4069	991	35	3	864	3	CUL7	6	43007936	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	7292852	43007936	128107131	63	5135											
RUNX2	860	hgsc.bcm.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	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						agcagcagcagcaacagcagc	0.736																																					p.Q64Q		.											RUNX2_ENST00000352853,NS,carcinoma,0,2	RUNX2_ENST00000352853	0	0			c.G192A						.						11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860	exon3			GCAGCAGCAACAG	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.192G>A	6.37:g.45390463G>A		29	0		39	2	NM_001024630	O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	CCDS43467.2																																																																																			.		0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45390463	G	A	45390463	2	1	33	1	0	0	0	0	0	0	0	1	13793	962	34	3		3	RUNX2	6	45390463	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	2382527	45390463	125724604	64	5136											
DST	667	hgsc.bcm.edu	37	6	56342186	56342186	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:56342186G>T	ENST00000361203.3	-	86	20679	c.20672C>A	c.(20671-20673)aCc>aAc	p.T6891N	DST_ENST00000446842.2_Missense_Mutation_p.T6676N|DST_ENST00000244364.6_Missense_Mutation_p.T4588N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.T7180N|DST_ENST00000370769.4_Missense_Mutation_p.T7002N|DST_ENST00000370788.2_Missense_Mutation_p.T4805N|DST_ENST00000421834.2_Missense_Mutation_p.T4914N			Q03001	DYST_HUMAN	dystonin	6889					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)			GTGCTTAATGGTAGTGATGGA	0.463																																					p.T4588N		.											DST_ENST00000370769,NS,carcinoma,0,2	DST_ENST00000370769	0	0			c.C13763A						.						159	165	163					6																	56342186		1955	4163	6118	SO:0001583	missense	667	exon72			TTAATGGTAGTGA	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.20672C>A	6.37:g.56342186G>T	ENSP00000354508:p.Thr6891Asn	53	0		75	3	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		.	.	.	.	.	.	.	.	.	.	G	23.0	4.362968	0.82353	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.58	5.58	0.84498	.	0.000000	0.52532	D	0.000076	T	0.63954	0.2555	M	0.77616	2.38	0.33723	D	0.617296	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.675	D;D;D;D;B	0.97110	0.999;1.0;0.999;0.986;0.43	T	0.56456	-0.7976	9	0.23302	T	0.38	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	4914;7002;7180;7000;4588	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	4588;7180;7002;4914;6676;4805;6891	ENSP00000244364:T4588N;ENSP00000359790:T7180N;ENSP00000359805:T7002N;ENSP00000400883:T4914N;ENSP00000393645:T6676N;ENSP00000359824:T4805N;ENSP00000354508:T6891N	ENSP00000244364:T4588N	T	-	2	0	DST	56450145	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.789000	0.95967	0.591000	0.81541	ACC	.		0.463	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56342186	G	T	56342186	3	4	33	1	0	0	0	0	1	0	0	0	4797	1261	44	3	1804	3	DST	6	56342186	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	10951723	56342186	114772881	65	5137											
ME1	4199	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	83937111	83937111	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:83937111C>G	ENST00000369705.3	-	11	1334	c.1218G>C	c.(1216-1218)ttG>ttC	p.L406F	ME1_ENST00000543031.1_Missense_Mutation_p.L331F|ME1_ENST00000541327.1_Missense_Mutation_p.L240F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	406					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TTGGATTACTCAAAGCAAAAA	0.333																																					p.L406F		.											.	.	.	0			c.G1218C						.						82	78	79					6																	83937111		2203	4300	6503	SO:0001583	missense	4199	exon11			ATTACTCAAAGCA	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1218G>C	6.37:g.83937111C>G	ENSP00000358719:p.Leu406Phe	79	0		75	33	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638308	0.67130	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.47869	0.83;0.83;0.83	5.96	2.75	0.32379	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67205	-0.5729	10	0.87932	D	0	-11.4314	2.275	0.04100	0.2055:0.4086:0.2346:0.1513	.	406	P48163	MAOX_HUMAN	F	406;66;240;331	ENSP00000358719:L406F;ENSP00000439912:L240F;ENSP00000446114:L331F	ENSP00000358719:L406F	L	-	3	2	ME1	83993830	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	0.181000	0.16880	0.832000	0.34804	0.555000	0.69702	TTG	.		0.333	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			G	83937111	C	G	83937111	3	3	33	1	0	0	0	0	1	0	0	0	9455	825	29	5	516	5	ME1	6	83937111	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	27594925	83937111	87177956	66	5138											
LAMA4	3910	hgsc.bcm.edu	37	6	112463373	112463373	+	Missense_Mutation	SNP	G	G	T	rs375497091		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr6:112463373G>T	ENST00000230538.7	-	20	3012	c.2615C>A	c.(2614-2616)cCg>cAg	p.P872Q	LAMA4_ENST00000522006.1_Missense_Mutation_p.P865Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.P865Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.P865Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	872	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		GGTCAGTTCCGGCCGCTTCAC	0.483																																					p.P872Q		.											LAMA4,NS,carcinoma,0,1	LAMA4	0	0			c.C2615A						.						118	117	117					6																	112463373		2203	4300	6503	SO:0001583	missense	3910	exon20			AGTTCCGGCCGCT		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.2615C>A	6.37:g.112463373G>T	ENSP00000230538:p.Pro872Gln	58	0		57	2	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273300	0.23221	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13307	2.62;2.6;2.6;2.6	6.16	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.365220	0.34879	N	0.003603	T	0.05868	0.0153	L	0.43152	1.355	0.80722	D	1	B;B	0.18610	0.017;0.029	B;B	0.17433	0.008;0.018	T	0.11275	-1.0594	10	0.31617	T	0.26	.	14.4397	0.67306	0.0:0.0:0.6155:0.3845	.	872;865	Q16363;Q16363-2	LAMA4_HUMAN;.	Q	872;865;865;865	ENSP00000230538:P872Q;ENSP00000429488:P865Q;ENSP00000374114:P865Q;ENSP00000416470:P865Q	ENSP00000230538:P872Q	P	-	2	0	LAMA4	112570066	0.787000	0.28750	0.046000	0.18839	0.004000	0.04260	2.976000	0.49289	0.859000	0.35456	0.650000	0.86243	CCG	.		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		T	112463373	G	T	112463373	3	4	33	1	0	0	0	0	1	0	0	0	8636	1116	39	2	2936	2	LAMA4	6	112463373	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	28526262	112463373	58651694	67	5139											
DNAH11	8701	hgsc.bcm.edu;bcgsc.ca	37	7	21678582	21678582	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr7:21678582G>T	ENST00000409508.3	+	28	4874	c.4843G>T	c.(4843-4845)Gct>Tct	p.A1615S	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1620S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1620	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGCTCTCGCTGAATACCT	0.393									Kartagener syndrome																												.		.											.	.	.	0			.						.						163	160	161					7																	21678582		1861	4093	5954	SO:0001583	missense	8701	p.A1620S	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCTCTCGCTGAAT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4843G>T	7.37:g.21678582G>T	ENSP00000475939:p.Ala1615Ser	54	0		50	4	.	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	4.301	0.055040	0.08291	.	.	ENSG00000105877	ENST00000328843	T	0.59906	0.23	5.78	-1.86	0.07760	Dynein heavy chain, domain-2 (1);	0.275476	0.40302	N	0.001126	T	0.27866	0.0686	.	.	.	0.23585	N	0.997357	B	0.16396	0.017	B	0.20955	0.032	T	0.26121	-1.0112	9	0.07644	T	0.81	.	6.2056	0.20600	0.3011:0.0:0.5032:0.1957	.	1620	Q96DT5	DYH11_HUMAN	S	1620	ENSP00000330671:A1620S	ENSP00000330671:A1620S	A	+	1	0	DNAH11	21645107	0.326000	0.24669	0.004000	0.12327	0.320000	0.28249	0.739000	0.26173	-0.708000	0.05015	-2.201000	0.00304	GCT	.		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21678582	G	T	21678582	3	4	33	1	0	0	0	0	1	0	0	0	4613	1087	38	2	4968	2	DNAH11	7	21678582	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		21678582	137460081	68	5140											
MYL7	58498	hgsc.bcm.edu	37	7	44179935	44179935	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr7:44179935C>T	ENST00000223364.3	-	4	311	c.285G>A	c.(283-285)ggG>ggA	p.G95G	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Silent_p.G68G	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	95						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.G95G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TGAGCTTCTCCCCAAAGAGCG	0.637																																					p.G95G		.											MYL7,trunk,malignant_melanoma,0,1	MYL7	0	1	Substitution - coding silent(1)	skin(1)	c.G285A						.						124	104	111					7																	44179935		2203	4300	6503	SO:0001819	synonymous_variant	58498	exon4			CTTCTCCCCAAAG	M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"Myosins / Light chain", "EF-hand domain containing"	21719	protein-coding gene	gene with protein product		613993	"myosin, light polypeptide 7, regulatory"			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.285G>A	7.37:g.44179935C>T		37	0		36	2	NM_021223	B2R4L3	Silent	SNP	ENST00000223364.3	37	CCDS5478.1																																																																																			.		0.637	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		T	44179935	C	T	44179935	2	4	33	1	0	0	0	0	0	0	0	1	10091	610	22	3		3	MYL7	7	44179935	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	22501353	44179935	114958728	69	5141											
AKAP9	10142	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	91729135	91729135	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr7:91729135G>A	ENST00000359028.2	+	44	11085	c.10860G>A	c.(10858-10860)ctG>ctA	p.L3620L	AKAP9_ENST00000356239.3_Silent_p.L3616L|AKAP9_ENST00000358100.2_Silent_p.L3566L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3620					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)			TTATGAAGCTGGAAGAGCAGA	0.408			T	BRAF	papillary thyroid																																p.L3616L		.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	.	0			c.G10848A						.						163	143	150					7																	91729135		2203	4300	6503	SO:0001819	synonymous_variant	10142	exon44			GAAGCTGGAAGAG	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.10860G>A	7.37:g.91729135G>A		29	0		40	4	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																				.		0.408	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91729135	G	A	91729135	2	1	33	1	0	0	0	0	0	0	0	1	459	1335	47	3		3	AKAP9	7	91729135	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	47549200	91729135	67409528	70	5142											
MLL5	55904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	104719314	104719314	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr7:104719314C>T	ENST00000311117.3	+	12	1697	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.F384F|KMT2E_ENST00000334877.4_Silent_p.F384F|KMT2E_ENST00000476671.1_Silent_p.F384F	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	384	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										TTGTGTTATTCTACTCTAAAT	0.413																																					p.F384F		.											.	.	.	0			c.C1152T						.						167	159	162					7																	104719314		2203	4300	6503	SO:0001819	synonymous_variant	55904	exon11			GTTATTCTACTCT	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.1152C>T	7.37:g.104719314C>T		69	0		71	33	NM_018682	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	CCDS34723.1																																																																																			.		0.413	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			T	104719314	C	T	104719314	2	4	33	1	0	0	0	0	0	0	0	1	9662	912	32	3		3	MLL5	7	104719314	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	12990179	104719314	54419349	71	5143											
PRSS1	5644	ucsc.edu	37	7	142459667	142459667	+	Silent	SNP	G	G	A	rs142476093		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr7:142459667G>A	ENST00000311737.7	+	3	249	c.243G>A	c.(241-243)ctG>ctA	p.L81L	PRSS1_ENST00000486171.1_Silent_p.L95L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	81	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)	TCGAAGTCCTGGAGGGGAATG	0.542																																					p.L81L													.	PRSS1	68	0			c.G243A						.						213	200	204					7																	142459667		2203	4300	6503	SO:0001819	synonymous_variant	5644	exon3			AGTCCTGGAGGGG	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.243G>A	7.37:g.142459667G>A		49	1		98	12	NM_002769	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																			C|0.000;G|1.000		0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142459667	G	A	142459667	2	1	33	1	0	0	0	0	0	0	0	1	12656	1335	47	3		3	PRSS1	7	142459667	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	37740353	142459667	16678996	72	5144											
WDR60	55112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	158704268	158704268	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr7:158704268C>T	ENST00000407559.3	+	12	1646	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	496					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)		TGCTTCGGCTCATTGACTTAG	0.343																																					p.L496L		.											.	.	.	0			c.C1488T						.						103	94	97					7																	158704268		1818	4081	5899	SO:0001819	synonymous_variant	55112	exon12			TCGGCTCATTGAC		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.1488C>T	7.37:g.158704268C>T		51	0		76	30	NM_018051	Q9NW58	Silent	SNP	ENST00000407559.3	37	CCDS47757.1																																																																																			.		0.343	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		T	158704268	C	T	158704268	2	4	33	1	0	0	0	0	0	0	0	1	17360	813	29	3		3	WDR60	7	158704268	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	16244601	158704268	434395	73	5145											
LGI3	203190	hgsc.bcm.edu	37	8	22005731	22005731	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:22005731G>T	ENST00000306317.2	-	8	1878	c.1589C>A	c.(1588-1590)cCc>cAc	p.P530H	LGI3_ENST00000424267.2_Missense_Mutation_p.P506H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	530					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)		CTTGAAGCTGGGGGCCAGGAG	0.622																																					p.P530H		.											LGI3,NS,carcinoma,0,1	LGI3	0	0			c.C1589A						.						87	85	86					8																	22005731		2203	4300	6503	SO:0001583	missense	203190	exon8			AAGCTGGGGGCCA	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.1589C>A	8.37:g.22005731G>T	ENSP00000302297:p.Pro530His	29	0		29	2	NM_139278	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843633	0.71488	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.80304	-1.36;-1.36	4.95	4.95	0.65309	.	0.065447	0.64402	D	0.000007	T	0.79299	0.4422	N	0.08118	0	0.42859	D	0.994101	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.917	D	0.84674	0.0713	10	0.87932	D	0	-38.309	15.6803	0.77364	0.0:0.0:1.0:0.0	.	506;530	A5PLP2;Q8N145	.;LGI3_HUMAN	H	530;506	ENSP00000302297:P530H;ENSP00000399121:P506H	ENSP00000302297:P530H	P	-	2	0	LGI3	22061676	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.465000	0.97660	2.246000	0.74042	0.561000	0.74099	CCC	.		0.622	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			T	22005731	G	T	22005731	3	4	33	1	0	0	0	0	1	0	0	0	8782	1232	43	3	61	3	LGI3	8	22005731	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		22005731	124358291	74	5146											
EBF2	64641	hgsc.bcm.edu	37	8	25716016	25716016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:25716016G>T	ENST00000520164.1	-	14	1884	c.1347C>A	c.(1345-1347)taC>taA	p.Y449*	EBF2_ENST00000535548.1_Nonsense_Mutation_p.Y180*|EBF2_ENST00000408929.3_Nonsense_Mutation_p.Y301*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	449					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|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)|metal ion binding (GO:0046872)	p.Y449*(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTTGCGGATGTACCCTTGGC	0.522																																					p.Y449X	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	.											EBF2,larynx,carcinoma,0,1	EBF2	0	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)	c.C1347A						.						109	108	108					8																	25716016		2037	4197	6234	SO:0001587	stop_gained	64641	exon14			GCGGATGTACCCT	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1347C>A	8.37:g.25716016G>T	ENSP00000430241:p.Tyr449*	30	0		57	3	NM_022659	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	39	7.420623	0.98272	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.54	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.732	11.1295	0.48339	0.1503:0.0:0.8497:0.0	.	.	.	.	X	449;301;180	.	ENSP00000386178:Y301X	Y	-	3	2	EBF2	25771933	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	2.027000	0.41078	1.343000	0.45638	0.655000	0.94253	TAC	.		0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		T	25716016	G	T	25716016	4	4	33	1	0	0	0	0	0	1	0	0	4895	1372	48	3	392	3	EBF2	8	25716016	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	3710285	25716016	120648006	75	5147											
RB1CC1	9821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	53554933	53554933	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:53554933C>G	ENST00000025008.5	-	18	4838	c.4315G>C	c.(4315-4317)Gag>Cag	p.E1439Q	RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1439Q|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1439Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1439					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATGCTTGTCTCCATTGCTGAA	0.428																																					p.E1439Q	GBM(180;1701 2102 13475 42023 52570)	.											.	.	.	0			c.G4315C						.						140	132	135					8																	53554933		2203	4300	6503	SO:0001583	missense	9821	exon18			TTGTCTCCATTGC	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4315G>C	8.37:g.53554933C>G	ENSP00000025008:p.Glu1439Gln	32	0		31	16	NM_001083617	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763807	0.89932	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.18016	2.24;2.24;2.24	5.75	5.75	0.90469	.	0.109559	0.64402	D	0.000010	T	0.24314	0.0589	L	0.36672	1.1	0.80722	D	1	P;P	0.44521	0.837;0.748	P;B	0.47827	0.558;0.355	T	0.00295	-1.1839	10	0.62326	D	0.03	-7.3385	18.9117	0.92489	0.0:1.0:0.0:0.0	.	1439;1439	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	Q	1439	ENSP00000025008:E1439Q;ENSP00000396067:E1439Q;ENSP00000445960:E1439Q	ENSP00000025008:E1439Q	E	-	1	0	RB1CC1	53717486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.603000	0.74145	2.702000	0.92279	0.655000	0.94253	GAG	.		0.428	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		G	53554933	C	G	53554933	3	3	33	1	0	0	0	0	1	0	0	0	13144	864	30	5	497	5	RB1CC1	8	53554933	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	27838917	53554933	92809089	76	5148											
VCPIP1	80124	hgsc.bcm.edu	37	8	67577658	67577658	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:67577658C>A	ENST00000310421.4	-	1	1794	c.1536G>T	c.(1534-1536)ttG>ttT	p.L512F	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	512					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)			CCAAATTGTTCAAGGGAAAGC	0.428																																					p.L512F	NSCLC(179;265 2915 6144 43644)	.											VCPIP1,NS,carcinoma,0,1	VCPIP1	0	0			c.G1536T						.						168	176	173					8																	67577658		2203	4300	6503	SO:0001583	missense	80124	exon1			ATTGTTCAAGGGA	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.1536G>T	8.37:g.67577658C>A	ENSP00000309031:p.Leu512Phe	49	0		49	2	NM_025054	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418358	0.25552	.	.	ENSG00000175073	ENST00000310421	T	0.37058	1.22	5.29	4.4	0.53042	.	0.000000	0.64402	D	0.000001	T	0.44603	0.1301	L	0.48362	1.52	0.48975	D	0.999731	D	0.69078	0.997	P	0.60789	0.879	T	0.36866	-0.9730	10	0.52906	T	0.07	-4.8635	7.0782	0.25217	0.2958:0.6238:0.0:0.0804	.	512	Q96JH7	VCIP1_HUMAN	F	512	ENSP00000309031:L512F	ENSP00000309031:L512F	L	-	3	2	VCPIP1	67740212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.637000	0.24659	1.190000	0.43042	0.655000	0.94253	TTG	.		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			A	67577658	C	A	67577658	3	1	33	1	0	0	0	0	1	0	0	0	17190	825	29	3	2144	3	VCPIP1	8	67577658	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	14022725	67577658	78786364	77	5149											
ODF1	4956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	103564207	103564207	+	Silent	SNP	A	A	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:103564207A>G	ENST00000285402.3	+	1	408	c.252A>G	c.(250-252)cgA>cgG	p.R84R		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	84					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)			ACTGTCTGCGACCATCTCTCA	0.428																																					p.R84R		.											.	.	.	0			c.A252G						.						158	141	147					8																	103564207		2203	4300	6503	SO:0001819	synonymous_variant	4956	exon1			TCTGCGACCATCT	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.252A>G	8.37:g.103564207A>G		33	0		39	15	NM_024410	Q3SX72	Silent	SNP	ENST00000285402.3	37	CCDS6293.1																																																																																			.		0.428	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			G	103564207	A	G	103564207	2	3	33	1	0	0	0	0	0	0	0	1	10865	262	10	4		4	ODF1	8	103564207	Silent	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09	35986549	103564207	42799815	78	5150											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110491815	110491815	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:110491815G>T	ENST00000378402.5	+	54	9229	c.9125G>T	c.(9124-9126)cGa>cTa	p.R3042L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3042	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)			CAATCATCACGAGAAAATAAT	0.318										HNSCC(38;0.096)																											p.R3042L		.											PKHD1L1,NS,carcinoma,+1,1	PKHD1L1	+1	0			c.G9125T						.						116	102	106					8																	110491815		1830	4081	5911	SO:0001583	missense	93035	exon54			CATCACGAGAAAA	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.9125G>T	8.37:g.110491815G>T	ENSP00000367655:p.Arg3042Leu	30	0		61	3	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595777	0.28445	.	.	ENSG00000205038	ENST00000378402	D	0.85339	-1.97	5.97	-11.9	0.00025	G8 domain (2);	1.636870	0.03460	N	0.212083	T	0.70211	0.3198	L	0.27053	0.805	0.09310	N	0.999999	B	0.12013	0.005	B	0.18561	0.022	T	0.55655	-0.8107	10	0.29301	T	0.29	.	6.7024	0.23232	0.2218:0.2744:0.4392:0.0646	.	3042	Q86WI1	PKHL1_HUMAN	L	3042	ENSP00000367655:R3042L	ENSP00000367655:R3042L	R	+	2	0	PKHD1L1	110560991	0.000000	0.05858	0.087000	0.20705	0.909000	0.53808	-2.749000	0.00793	-3.102000	0.00244	-1.731000	0.00696	CGA	.		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110491815	G	T	110491815	3	4	33	1	0	0	0	0	1	0	0	0	12011	1058	37	2	9339	2	PKHD1L1	8	110491815	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	6927608	110491815	35872207	79	5151											
FER1L6	654463	hgsc.bcm.edu	37	8	124989720	124989720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:124989720G>T	ENST00000522917.1	+	10	1140	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.E312*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	312	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					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)			GATCTTCAAGGAAATGTTCCC	0.507																																					p.E312X		.											FER1L6,NS,lymphoid_neoplasm,0,1	FER1L6	0	0			c.G934T						.						160	164	163					8																	124989720		2069	4207	6276	SO:0001587	stop_gained	654463	exon10			TTCAAGGAAATGT	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.934G>T	8.37:g.124989720G>T	ENSP00000428280:p.Glu312*	51	0		35	2	NM_001039112		Nonsense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	42	9.180872	0.99092	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000381982:E312X	E	+	1	0	FER1L6	125058901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.608000	0.88229	0.561000	0.74099	GAA	.		0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	124989720	G	T	124989720	4	4	33	1	0	0	0	0	0	1	0	0	5837	1175	41	3	968	3	FER1L6	8	124989720	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	14497905	124989720	21374302	80	5152											
GSDMC	56169	hgsc.bcm.edu	37	8	130777904	130777904	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr8:130777904C>T	ENST00000276708.4	-	4	1421	c.540G>A	c.(538-540)ggG>ggA	p.G180G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	180						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						GAGCAATTTTCCCTAAAATAT	0.438																																					p.G180G		.											GSDMC,NS,malignant_melanoma,0,2	GSDMC	0	0			c.G540A						.						116	116	116					8																	130777904		2203	4300	6503	SO:0001819	synonymous_variant	56169	exon4			AATTTTCCCTAAA	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.540G>A	8.37:g.130777904C>T		46	0		47	2	NM_031415	Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	CCDS6360.1																																																																																			.		0.438	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			T	130777904	C	T	130777904	2	4	33	1	0	0	0	0	0	0	0	1	6845	842	30	3		3	GSDMC	8	130777904	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	5788184	130777904	15586118	81	5153											
TEK	7010	hgsc.bcm.edu	37	9	27158032	27158032	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr9:27158032G>T	ENST00000380036.4	+	2	698	c.256G>T	c.(256-258)Gtt>Ttt	p.V86F	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.V86F	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	86	Ig-like C2-type 1.				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)	GGCTAAAAAAGTTGTTTGGAA	0.463																																					p.V86F		.											.	.	.	0			c.G256T						.						104	104	104					9																	27158032		2203	4300	6503	SO:0001583	missense	7010	exon2			AAAAAAGTTGTTT	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.256G>T	9.37:g.27158032G>T	ENSP00000369375:p.Val86Phe	63	0		99	4	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468116	0.84533	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.76186	-0.9;-1.0	5.92	5.92	0.95590	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000304	T	0.80352	0.4607	N	0.24115	0.695	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.991;1.0;0.998;1.0	T	0.81389	-0.0955	10	0.59425	D	0.04	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	119;86;86;86	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	F	86	ENSP00000369375:V86F;ENSP00000383977:V86F	ENSP00000343716:V86F	V	+	1	0	TEK	27148032	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	6.664000	0.74437	2.809000	0.96659	0.655000	0.94253	GTT	.		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27158032	G	T	27158032	3	4	33	1	0	0	0	0	1	0	0	0	15798	1029	36	3	262	3	TEK	9	27158032	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		27158032	114055399	82	5154											
FAM75A1	647060	hgsc.bcm.edu	37	9	39358471	39358471	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr9:39358471delC	ENST00000377647.3	+	4	738	c.709delC	c.(709-711)ccafs	p.P237fs	SPATA31A1_ENST00000473440.1_3'UTR	NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	237					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTGATAACTCCATCTCACTG	0.582																																					p.T236fs		.											.	.	.	0			c.708delT						.																																			SO:0001589	frameshift_variant	642265	exon4			ATAACTCCATCTC		CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 36", "family with sequence similarity 75, member A1"	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.709delC	9.37:g.39358471delC	ENSP00000366875:p.Pro237fs	95	0		108	11	NM_001040065		Frame_Shift_Del	DEL	ENST00000377647.3	37	CCDS43808.1																																																																																			.		0.582	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036910.1	NM_001085452		-	39358471	C	-	39358471	7	5	33	1	0	1	0	1	0	0	0	0	5641	855	30	0	723	0	FAM75A1	9	39358471	Frame_Shift_Del	DEL	C	TCGA-ZH-A8Y6-01A-11D-A417-09	12200439	39358471	101854960	83	5155											
FAM75A1	642265	hgsc.bcm.edu	37	9	39887722	39887722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr9:39887722delC	ENST00000456183.2	+	4	738	c.709delC	c.(709-711)ccafs	p.P237fs		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	237					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTGATAACTCCATCTCACTG	0.582																																					p.T236fs		.											.	.	.	0			c.708delT						.						1	1	1					9																	39887722		21	39	60	SO:0001589	frameshift_variant	642265	exon4			ATAACTCCATCTC			9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A2"	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.709delC	9.37:g.39887722delC	ENSP00000406957:p.Pro237fs	119	0		114	15	NM_001040065		Frame_Shift_Del	DEL	ENST00000456183.2	37	CCDS43809.1																																																																																			.		0.582	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037739.1	NM_001040065		-	39887722	C	-	39887722	7	5	33	1	0	1	0	1	0	0	0	0	5641	855	30	0	4783	0	FAM75A1	9	39887722	Frame_Shift_Del	DEL	C	TCGA-ZH-A8Y6-01A-11D-A417-09	529251	39887722	101325709	84	5156											
FAM75A6	389730	hgsc.bcm.edu	37	9	43627977	43627977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr9:43627977delG	ENST00000332857.6	-	4	738	c.710delC	c.(709-711)ccafs	p.P237fs	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	237					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAGTGAGATGGAGTTATCAG	0.582																																					p.P237fs		.											.	.	.	0			c.711delA						.						1	1	1					9																	43627977		4	19	23	SO:0001589	frameshift_variant	389730	exon4			TGAGATGGAGTTA		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.710delC	9.37:g.43627977delG	ENSP00000329825:p.Pro237fs	114	0		126	21	NM_001145196		Frame_Shift_Del	DEL	ENST00000332857.6	37	CCDS47973.1																																																																																			.		0.582	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		-	43627977	G	-	43627977	7	5	33	1	0	1	0	1	0	0	0	0	5644	1348	47	0	3325	0	FAM75A6	9	43627977	Frame_Shift_Del	DEL	G	TCGA-ZH-A8Y6-01A-11D-A417-09	3740255	43627977	97585454	85	5157											
FBP1	2203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	97367846	97367846	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr9:97367846G>C	ENST00000375326.4	-	6	914	c.718C>G	c.(718-720)Cct>Gct	p.P240A	FBP1_ENST00000415431.1_Missense_Mutation_p.P240A	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	240					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	GCCCCATAAGGAGCTGAATTA	0.458																																					p.P240A	Ovarian(142;590 2466 25593 44496)	.											.	.	.	0			c.C718G						.						45	43	44					9																	97367846		2203	4300	6503	SO:0001583	missense	2203	exon6			CATAAGGAGCTGA	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.718C>G	9.37:g.97367846G>C	ENSP00000364475:p.Pro240Ala	54	0		62	26	NM_000507	O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282095	0.40394	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	T;T	0.71934	-0.61;-0.61	5.52	4.61	0.57282	.	0.044953	0.85682	N	0.000000	T	0.71221	0.3314	M	0.72118	2.19	0.80722	D	1	B	0.28258	0.205	B	0.28465	0.09	T	0.71269	-0.4643	10	0.54805	T	0.06	-18.8928	16.2663	0.82581	0.0:0.133:0.867:0.0	.	240	P09467	F16P1_HUMAN	A	240	ENSP00000364475:P240A;ENSP00000408025:P240A	ENSP00000364475:P240A	P	-	1	0	FBP1	96407667	1.000000	0.71417	0.233000	0.24025	0.002000	0.02628	7.786000	0.85741	1.298000	0.44778	-0.494000	0.04653	CCT	.		0.458	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		C	97367846	G	C	97367846	3	2	33	1	0	0	0	0	1	0	0	0	5727	1174	41	5	306	5	FBP1	9	97367846	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	53739869	97367846	43845585	86	5158											
C9orf98	158067	hgsc.bcm.edu	37	9	135668080	135668080	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr9:135668080G>T	ENST00000298545.3	-	11	1583	c.1062C>A	c.(1060-1062)ggC>ggA	p.G354G	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	354	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)	p.G354G(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CCCGCGGGACGCCGTGTAGCA	0.657																																					p.G354G		.											C9orf98_ENST00000298545,colon,carcinoma,0,2	C9orf98_ENST00000298545	0	2	Substitution - coding silent(2)	large_intestine(2)	c.C1062A						.						28	23	25					9																	135668080		2189	4280	6469	SO:0001819	synonymous_variant	158067	exon11			CGGGACGCCGTGT	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.1062C>A	9.37:g.135668080G>T		45	0		68	3	NM_152572	A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	CCDS6954.1																																																																																			.		0.657	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		T	135668080	G	T	135668080	2	4	33	1	0	0	0	0	0	0	0	1	2516	1074	38	2		2	C9orf98	9	135668080	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	38300234	135668080	5545351	87	5159											
PFKP	5214	hgsc.bcm.edu	37	10	3149416	3149416	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:3149416G>A	ENST00000381125.4	+	8	861	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	PFKP_ENST00000381075.2_Missense_Mutation_p.R254Q	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	262	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)		AACCGTGCCCGGAAAAAAAGG	0.398																																					p.R262Q		.											PFKP_ENST00000381075,colon,carcinoma,0,2	PFKP_ENST00000381075	0	0			c.G785A						.						68	70	69					10																	3149416		2201	4300	6501	SO:0001583	missense	5214	exon8			GTGCCCGGAAAAA	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.785G>A	10.37:g.3149416G>A	ENSP00000370517:p.Arg262Gln	52	0		64	3	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585861	0.46110	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	T;T;T	0.78924	-1.22;-1.22;-1.22	5.26	3.35	0.38373	Phosphofructokinase domain (2);	0.621176	0.16171	N	0.226296	T	0.68274	0.2983	L	0.41824	1.3	0.48341	D	0.999631	B;B	0.23735	0.09;0.002	B;B	0.11329	0.006;0.001	T	0.64097	-0.6487	10	0.33141	T	0.24	.	12.7511	0.57308	0.1423:0.0:0.8577:0.0	.	254;262	Q5VSR7;Q01813	.;K6PP_HUMAN	Q	262;251;254;46	ENSP00000370517:R262Q;ENSP00000370465:R254Q;ENSP00000408858:R46Q	ENSP00000370465:R254Q	R	+	2	0	PFKP	3139416	0.994000	0.37717	0.896000	0.35187	0.979000	0.70002	2.246000	0.43142	1.329000	0.45376	0.655000	0.94253	CGG	.		0.398	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		A	3149416	G	A	3149416	3	1	33	1	0	0	0	0	1	0	0	0	11805	1116	39	1	815	1	PFKP	10	3149416	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		3149416	132385331	88	5160											
DNA2	1763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	70206164	70206164	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:70206164G>A	ENST00000358410.3	-	7	996	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	DNA2_ENST00000399179.2_Silent_p.L316L|DNA2_ENST00000399180.2_Silent_p.L402L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	316	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						AGAGTGTACAGAACAACCTGT	0.413																																					p.L316L		.											.	.	.	0			c.C946T						.						67	63	65					10																	70206164		1906	4123	6029	SO:0001819	synonymous_variant	1763	exon7			TGTACAGAACAAC	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.946C>T	10.37:g.70206164G>A		61	0		95	44	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37																																																																																				.		0.413	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			A	70206164	G	A	70206164	2	1	33	1	0	0	0	0	0	0	0	1	4610	933	33	3		3	DNA2	10	70206164	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	67056748	70206164	65328583	89	5161											
LIPA	3988	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	90974598	90974598	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:90974598C>T	ENST00000336233.5	-	10	1509	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LIPA_ENST00000371837.1_Missense_Mutation_p.R340K|LIPA_ENST00000456827.1_Missense_Mutation_p.R396K			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	396					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)		CTGATATTTCCTCATTAGATT	0.388																																					p.R396K		.											.	.	.	0			c.G1187A						.						28	31	30					10																	90974598		2203	4300	6503	SO:0001583	missense	3988	exon10			TATTTCCTCATTA	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.1187G>A	10.37:g.90974598C>T	ENSP00000337354:p.Arg396Lys	68	0		69	4	NM_000235	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	C	3.198	-0.164435	0.06502	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287	T;T;T	0.72835	-0.31;-0.69;-0.31	4.93	-3.46	0.04767	.	0.433149	0.28895	N	0.013800	T	0.37433	0.1003	N	0.10618	0.005	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.10450	0.002;0.005;0.001	T	0.40961	-0.9535	10	0.02654	T	1	-9.9111	7.9931	0.30252	0.0:0.3241:0.1153:0.5605	.	398;340;396	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	K	396;340;396;396;354;396;398	ENSP00000337354:R396K;ENSP00000360903:R340K;ENSP00000413019:R396K	ENSP00000337354:R396K	R	-	2	0	LIPA	90964578	0.087000	0.21565	0.852000	0.33557	0.721000	0.41392	-0.243000	0.08915	-0.537000	0.06290	-0.217000	0.12591	AGG	.		0.388	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		T	90974598	C	T	90974598	3	4	33	1	0	0	0	0	1	0	0	0	8849	681	24	3	16	3	LIPA	10	90974598	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	20768434	90974598	44560149	90	5162											
IFIT5	24138	hgsc.bcm.edu;broad.mit.edu	37	10	91177164	91177164	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:91177164G>A	ENST00000371795.4	+	2	421	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	LIPA_ENST00000371837.1_5'Flank|IFIT5_ENST00000416601.1_Missense_Mutation_p.A70T	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	70					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AAATAAAGACGCCCTTGAGTG	0.418																																					p.A70T		.											IFIT5,colon,carcinoma,0,1	IFIT5	0	0			c.G208A						.						68	67	67					10																	91177164		2203	4300	6503	SO:0001583	missense	24138	exon2			AAAGACGCCCTTG	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.208G>A	10.37:g.91177164G>A	ENSP00000360860:p.Ala70Thr	26	0		40	5	NM_012420	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040895	0.75732	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	D;D	0.99032	-5.35;-5.35	6.03	6.03	0.97812	.	0.049978	0.85682	D	0.000000	D	0.99495	0.9820	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98718	1.0707	10	0.66056	D	0.02	-8.3813	19.545	0.95291	0.0:0.0:1.0:0.0	.	70;70	Q13325;B4DDV1	IFIT5_HUMAN;.	T	70	ENSP00000360860:A70T;ENSP00000414042:A70T	ENSP00000360860:A70T	A	+	1	0	IFIT5	91167144	1.000000	0.71417	0.990000	0.47175	0.460000	0.32559	6.167000	0.71902	2.861000	0.98227	0.655000	0.94253	GCC	.		0.418	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		A	91177164	G	A	91177164	3	1	33	1	0	0	0	0	1	0	0	0	7552	1087	38	1	214	1	IFIT5	10	91177164	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	202566	91177164	44357583	91	5163											
KIF20B	9585	bcgsc.ca	37	10	91470854	91470854	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:91470854G>T	ENST00000371728.3	+	6	692	c.627G>T	c.(625-627)gaG>gaT	p.E209D	KIF20B_ENST00000394289.2_Missense_Mutation_p.E209D|KIF20B_ENST00000416354.1_Missense_Mutation_p.E209D|KIF20B_ENST00000260753.4_Missense_Mutation_p.E209D	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	209	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)			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						CAGAACAAGAGAAAGAAGAAA	0.299																																					p.E209D													.	KIF20B	191	0			c.G627T						.						66	73	71					10																	91470854		2203	4300	6503	SO:0001583	missense	9585	exon6			ACAAGAGAAAGAA	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.627G>T	10.37:g.91470854G>T	ENSP00000360793:p.Glu209Asp	142	0		160	5	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		.	.	.	.	.	.	.	.	.	.	G	19.69	3.874923	0.72180	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.39	3.54	0.40534	Kinesin, motor domain (4);	0.132703	0.34268	N	0.004111	T	0.34424	0.0897	N	0.16656	0.425	0.30627	N	0.757853	D;P	0.56521	0.976;0.904	P;P	0.60012	0.867;0.754	T	0.25467	-1.0131	10	0.19147	T	0.46	-15.2753	3.2016	0.06651	0.1503:0.138:0.5692:0.1425	.	209;209	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	D	209	ENSP00000260753:E209D;ENSP00000411545:E209D;ENSP00000377830:E209D;ENSP00000360793:E209D	ENSP00000260753:E209D	E	+	3	2	KIF20B	91460834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.690000	0.47001	0.651000	0.30788	0.655000	0.94253	GAG	.		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		T	91470854	G	T	91470854	3	4	33	1	0	0	0	0	1	0	0	0	8314	933	33	3	645	3	KIF20B	10	91470854	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	293690	91470854	44063893	92	5164											
PDE6C	5146	hgsc.bcm.edu	37	10	95400207	95400207	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:95400207G>T	ENST00000371447.3	+	13	1768	c.1630G>T	c.(1630-1632)Gtt>Ttt	p.V544F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	544					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTTCTTTTAGGTTCTTACCAG	0.423																																					p.V544F		.											PDE6C,NS,carcinoma,0,1	PDE6C	0	0			c.G1630T						.						130	118	122					10																	95400207		2203	4300	6503	SO:0001630	splice_region_variant	5146	exon13			TTTTAGGTTCTTA	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1630-1G>T	10.37:g.95400207G>T		52	0		72	3	NM_006204	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510980	0.64522	.	.	ENSG00000095464	ENST00000371447	T	0.77877	-1.13	5.03	4.1	0.47936	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115816	0.64402	D	0.000012	D	0.87962	0.6310	M	0.88105	2.93	0.58432	D	0.999996	D	0.71674	0.998	D	0.63381	0.914	D	0.89556	0.3803	9	.	.	.	.	14.0033	0.64446	0.0745:0.0:0.9255:0.0	.	544	P51160	PDE6C_HUMAN	F	544	ENSP00000360502:V544F	.	V	+	1	0	PDE6C	95390197	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.771000	0.68881	2.613000	0.88420	0.467000	0.42956	GTT	.		0.423	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	Missense_Mutation	T	95400207	G	T	95400207	5	4	33	1	0	0	0	0	0	0	1	0	11686	1275	44	3	1680	3	PDE6C	10	95400207	Splice_Site	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	3929353	95400207	40134540	93	5165											
GBF1	8729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	104121537	104121537	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:104121537G>A	ENST00000369983.3	+	14	1811	c.1551G>A	c.(1549-1551)atG>atA	p.M517I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	517					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTTATGAGATGAAGGAGATGG	0.473																																					p.M518I		.											.	.	.	0			c.G1554A						.						140	122	128					10																	104121537		2203	4300	6503	SO:0001583	missense	8729	exon14			TGAGATGAAGGAG	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1551G>A	10.37:g.104121537G>A	ENSP00000359000:p.Met517Ile	26	0		41	13	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726981	0.69074	.	.	ENSG00000107862	ENST00000369983	T	0.64438	-0.1	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	N	0.12887	0.27	0.80722	D	1	B;B;B	0.21753	0.06;0.038;0.01	B;B;B	0.17979	0.02;0.02;0.009	T	0.33727	-0.9857	10	0.31617	T	0.26	-21.7474	20.8794	0.99867	0.0:0.0:1.0:0.0	.	517;517;517	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	I	517	ENSP00000359000:M517I	ENSP00000359000:M517I	M	+	3	0	GBF1	104111527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.832000	0.99423	2.941000	0.99782	0.655000	0.94253	ATG	.		0.473	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			A	104121537	G	A	104121537	3	1	33	1	0	0	0	0	1	0	0	0	6296	1290	45	3	1601	3	GBF1	10	104121537	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	8721330	104121537	31413210	94	5166											
ADRA2A	150	hgsc.bcm.edu	37	10	112838890	112838890	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:112838890G>T	ENST00000280155.2	+	1	2101	c.1136G>T	c.(1135-1137)gGg>gTg	p.G379V		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	364					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)	CGCTGGCGCGGGCGGCAGAAC	0.726																																					p.G379V	Esophageal Squamous(173;605 2658 7278 49362)	.											ADRA2A,NS,carcinoma,+1,1	ADRA2A	+1	0			c.G1136T						.						75	63	67					10																	112838890		2202	4300	6502	SO:0001583	missense	150	exon1			GGCGCGGGCGGCA	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.1136G>T	10.37:g.112838890G>T	ENSP00000280155:p.Gly379Val	9	0		9	2	NM_000681	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607587	0.28623	.	.	ENSG00000150594	ENST00000280155	T	0.43688	0.94	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.710624	0.12830	U	0.435694	T	0.39682	0.1087	N	0.05230	-0.09	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.09640	-1.0665	10	0.11182	T	0.66	.	13.7658	0.62995	0.0:0.0:1.0:0.0	.	364	P08913	ADA2A_HUMAN	V	379	ENSP00000280155:G379V	ENSP00000280155:G379V	G	+	2	0	ADRA2A	112828880	0.997000	0.39634	1.000000	0.80357	0.936000	0.57629	1.049000	0.30392	1.932000	0.55993	0.462000	0.41574	GGG	.		0.726	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		T	112838890	G	T	112838890	3	4	33	1	0	0	0	0	1	0	0	0	337	1232	43	3	1138	3	ADRA2A	10	112838890	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	8717353	112838890	22695857	95	5167											
ZNF511	118472	ucsc.edu;bcgsc.ca	37	10	135123330	135123330	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr10:135123330C>T	ENST00000359035.3	+	3	281	c.278C>T	c.(277-279)gCc>gTc	p.A93V	TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000368554.4_Missense_Mutation_p.A28V|ZNF511_ENST00000361518.5_Missense_Mutation_p.A93V|TUBGCP2_ENST00000368563.2_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	93					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(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		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)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTGTTCGATGCCCTGGACGAC	0.632																																					p.A93V													.	ZNF511	17	0			c.C278T						.						109	84	92					10																	135123330		2203	4300	6503	SO:0001583	missense	118472	exon3			TCGATGCCCTGGA	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.278C>T	10.37:g.135123330C>T	ENSP00000351929:p.Ala93Val	23	0		31	4	NM_145806	A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37		.	.	.	.	.	.	.	.	.	.	C	11.93	1.785039	0.31593	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88664	-2.41;-2.41;-2.41	5.2	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.540286	0.20648	N	0.088276	T	0.79009	0.4374	L	0.27053	0.805	0.09310	N	1	B;B;B	0.22146	0.065;0.001;0.006	B;B;B	0.19391	0.025;0.004;0.011	T	0.66135	-0.5999	10	0.44086	T	0.13	-26.669	6.7365	0.23413	0.0:0.6427:0.1347:0.2226	.	93;28;93	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	V	93;93;28	ENSP00000355251:A93V;ENSP00000351929:A93V;ENSP00000357542:A28V	ENSP00000351929:A93V	A	+	2	0	ZNF511	134973320	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	0.567000	0.23608	0.040000	0.15660	-0.133000	0.14855	GCC	.		0.632	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		T	135123330	C	T	135123330	3	4	33	1	0	0	0	0	1	0	0	0	18003	739	26	3	288	3	ZNF511	10	135123330	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	22284440	135123330	411417	96	5168											
SPTY2D1	144108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	18636621	18636621	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr11:18636621C>G	ENST00000336349.5	-	3	1435	c.1200G>C	c.(1198-1200)caG>caC	p.Q400H	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	400	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGCTGCCATTCTGGCGCCTAG	0.597																																					p.Q400H		.											.	.	.	0			c.G1200C						.						58	58	58					11																	18636621		2199	4293	6492	SO:0001583	missense	144108	exon3			GCCATTCTGGCGC	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1200G>C	11.37:g.18636621C>G	ENSP00000337991:p.Gln400His	27	0		30	12	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.321985	0.23994	.	.	ENSG00000179119	ENST00000336349	T	0.26957	1.7	5.43	0.13	0.14746	.	0.277370	0.36234	N	0.002713	T	0.12178	0.0296	N	0.14661	0.345	0.25673	N	0.985871	B	0.19583	0.037	B	0.12156	0.007	T	0.19647	-1.0299	10	0.34782	T	0.22	-11.9817	7.751	0.28896	0.0:0.5422:0.115:0.3428	.	400	Q68D10	SPT2_HUMAN	H	400	ENSP00000337991:Q400H	ENSP00000337991:Q400H	Q	-	3	2	SPTY2D1	18593197	0.000000	0.05858	0.999000	0.59377	0.483000	0.33249	-1.966000	0.01509	0.133000	0.18654	0.563000	0.77884	CAG	.		0.597	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		G	18636621	C	G	18636621	3	3	33	1	0	0	0	0	1	0	0	0	15173	912	32	5	873	5	SPTY2D1	11	18636621	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09		18636621	116369895	97	5169											
ABTB2	25841	hgsc.bcm.edu	37	11	34194737	34194737	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr11:34194737C>T	ENST00000435224.2	-	4	1786	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	ABTB2_ENST00000298992.2_Silent_p.L268L|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	454					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)				GACCAGGCAGCAGCAGCCGGG	0.687																																					p.L454L		.											.	.	.	0			c.G1362A						.						20	25	23					11																	34194737		2201	4292	6493	SO:0001819	synonymous_variant	25841	exon4			AGGCAGCAGCAGC	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.1362G>A	11.37:g.34194737C>T		89	0		77	4	NM_145804	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	CCDS7890.2																																																																																			.		0.687	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		T	34194737	C	T	34194737	2	4	33	1	0	0	0	0	0	0	0	1	103	697	25	3		3	ABTB2	11	34194737	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	15558116	34194737	100811779	98	5170											
CREB3L1	90993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	46321678	46321678	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr11:46321678C>A	ENST00000529193.1	+	2	746	c.295C>A	c.(295-297)Ccc>Acc	p.P99T	CREB3L1_ENST00000288400.3_Missense_Mutation_p.P99T			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	99					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)		GCCCCAGAGCCCCCTTGTGCC	0.627			T	FUS	myxofibrosarcoma																																p.P99T	Pancreas(3;159 194 19597 26278 47995)	.		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	.	.	.	0			c.C295A						.						35	37	37					11																	46321678		2051	4196	6247	SO:0001583	missense	90993	exon2			CAGAGCCCCCTTG		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.295C>A	11.37:g.46321678C>A	ENSP00000434939:p.Pro99Thr	34	0		28	11	NM_052854	Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454129	0.84209	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000534787	T;T;T	0.43294	0.95;0.95;0.95	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.66509	0.2796	M	0.70595	2.14	0.50467	D	0.999872	D	0.89917	1.0	D	0.83275	0.996	T	0.68784	-0.5317	10	0.87932	D	0	-7.9176	19.5245	0.95199	0.0:1.0:0.0:0.0	.	99	Q96BA8	CR3L1_HUMAN	T	99;99;99;53	ENSP00000434939:P99T;ENSP00000288400:P99T;ENSP00000431677:P53T	ENSP00000288400:P99T	P	+	1	0	CREB3L1	46278254	1.000000	0.71417	0.997000	0.53966	0.738000	0.42128	6.557000	0.73937	2.608000	0.88229	0.655000	0.94253	CCC	.		0.627	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		A	46321678	C	A	46321678	3	1	33	1	0	0	0	0	1	0	0	0	3863	623	22	3	301	3	CREB3L1	11	46321678	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	12126941	46321678	88684838	99	5171											
OR8K3	219473	hgsc.bcm.edu	37	11	56086520	56086520	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr11:56086520G>A	ENST00000312711.1	+	1	738	c.738G>A	c.(736-738)gtG>gtA	p.V246V		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	246						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(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACCTGACAGTGGTCATAGTGT	0.448																																					p.V246V		.											OR8K3,caecum,carcinoma,0,1	OR8K3	0	0			c.G738A						.						103	95	98					11																	56086520		2201	4296	6497	SO:0001819	synonymous_variant	219473	exon1			GACAGTGGTCATA	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.738G>A	11.37:g.56086520G>A		33	0		43	2	NM_001005202	Q6IFC4	Silent	SNP	ENST00000312711.1	37	CCDS31527.1																																																																																			.		0.448	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		A	56086520	G	A	56086520	2	1	33	1	0	0	0	0	0	0	0	1	11283	1335	47	3		3	OR8K3	11	56086520	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	9764842	56086520	78919996	100	5172											
GUCY2C	2984	hgsc.bcm.edu	37	12	14849213	14849213	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:14849213G>A	ENST00000261170.3	-	1	306	c.170C>T	c.(169-171)gCg>gTg	p.A57V	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	57					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTCATTCACCGCATCTTCCAA	0.483																																					p.A57V		.											GUCY2C,NS,carcinoma,0,1	GUCY2C	0	0			c.C170T						.						91	84	87					12																	14849213		2203	4300	6503	SO:0001583	missense	2984	exon1			TTCACCGCATCTT		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.170C>T	12.37:g.14849213G>A	ENSP00000261170:p.Ala57Val	34	0		32	2	NM_004963	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071638	0.36566	.	.	ENSG00000070019	ENST00000261170	D	0.91577	-2.87	5.56	2.55	0.30701	Extracellular ligand-binding receptor (1);	0.238205	0.41097	N	0.000950	D	0.82944	0.5147	L	0.41961	1.31	0.09310	N	1	P	0.36282	0.546	B	0.32149	0.141	T	0.70310	-0.4907	10	0.28530	T	0.3	.	7.5963	0.28050	0.2743:0.0:0.7257:0.0	.	57	P25092	GUC2C_HUMAN	V	57	ENSP00000261170:A57V	ENSP00000261170:A57V	A	-	2	0	GUCY2C	14740480	0.031000	0.19500	0.004000	0.12327	0.042000	0.13812	1.047000	0.30367	0.323000	0.23307	0.655000	0.94253	GCG	.		0.483	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			A	14849213	G	A	14849213	3	1	33	1	0	0	0	0	1	0	0	0	6923	1087	38	1	3159	1	GUCY2C	12	14849213	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		14849213	119002682	101	5173											
ITPR2	3709	hgsc.bcm.edu	37	12	26709212	26709212	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:26709212G>A	ENST00000381340.3	-	36	5334	c.4918C>T	c.(4918-4920)Cct>Tct	p.P1640S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1640					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)	p.P1640T(1)	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)	CTTCCCTCAGGGAACAGCAGT	0.483																																					p.P1640S		.											ITPR2,NS,carcinoma,0,1	ITPR2	0	1	Substitution - Missense(1)	lung(1)	c.C4918T						.						168	164	165					12																	26709212		2016	4174	6190	SO:0001583	missense	3709	exon36			CCTCAGGGAACAG	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.4918C>T	12.37:g.26709212G>A	ENSP00000370744:p.Pro1640Ser	32	0		42	2	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840153	0.91117	.	.	ENSG00000123104	ENST00000381340	D	0.92299	-3.01	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.92848	0.7725	M	0.79805	2.47	0.80722	D	1	P	0.35481	0.504	B	0.36666	0.23	D	0.93283	0.6662	10	0.62326	D	0.03	.	18.662	0.91474	0.0:0.0:1.0:0.0	.	1640	Q14571	ITPR2_HUMAN	S	1640	ENSP00000370744:P1640S	ENSP00000370744:P1640S	P	-	1	0	ITPR2	26600479	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	9.327000	0.96396	2.404000	0.81709	0.491000	0.48974	CCT	.		0.483	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26709212	G	A	26709212	3	1	33	1	0	0	0	0	1	0	0	0	7948	1232	43	3	3275	3	ITPR2	12	26709212	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	11859999	26709212	107142683	102	5174											
GXYLT1	283464	hgsc.bcm.edu	37	12	42523639	42523639	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:42523639G>T	ENST00000398675.3	-	2	468	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	GXYLT1_ENST00000280876.6_Intron	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	79					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						GTAACACAGAGAGAAATCTTT	0.383																																					p.S79Y		.											GXYLT1,NS,carcinoma,0,1	GXYLT1	0	0			c.C236A						.						98	88	91					12																	42523639		1846	4095	5941	SO:0001583	missense	283464	exon2			CACAGAGAGAAAT	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.236C>A	12.37:g.42523639G>T	ENSP00000381666:p.Ser79Tyr	31	0		32	2	NM_173601	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674154	0.67928	.	.	ENSG00000151233	ENST00000398675	.	.	.	5.31	3.41	0.39046	.	1.220290	0.06226	U	0.687662	T	0.50514	0.1620	L	0.27053	0.805	0.80722	D	1	B	0.32693	0.38	B	0.31016	0.123	T	0.21690	-1.0238	9	0.62326	D	0.03	.	15.6825	0.77381	0.0:0.26:0.74:0.0	.	79	Q4G148	GXLT1_HUMAN	Y	79	.	ENSP00000381666:S79Y	S	-	2	0	GXYLT1	40809906	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.421000	0.66447	0.678000	0.31325	0.591000	0.81541	TCT	.		0.383	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		T	42523639	G	T	42523639	3	4	33	1	0	0	0	0	1	0	0	0	6930	942	33	3	1114	3	GXYLT1	12	42523639	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	15814427	42523639	91328256	103	5175											
PDE1B	5153	hgsc.bcm.edu;bcgsc.ca	37	12	54970441	54970441	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:54970441G>A	ENST00000243052.3	+	14	1899	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	PDE1B_ENST00000550620.1_Missense_Mutation_p.R468H|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R447H|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	488	Catalytic. {ECO:0000250}.				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)	TGGGTCAAGCGCATTCAGGAG	0.562																																					p.R488H		.											.	.	.	0			c.G1463A						.						69	53	59					12																	54970441		2203	4300	6503	SO:0001583	missense	5153	exon14			TCAAGCGCATTCA	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.1463G>A	12.37:g.54970441G>A	ENSP00000243052:p.Arg488His	26	0		38	4	NM_000924	Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560928	0.27827	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.68025	-0.3;-0.3;-0.3	4.86	3.71	0.42584	.	0.498586	0.17707	N	0.164738	T	0.41696	0.1170	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12785	-1.0534	10	0.15499	T	0.54	.	8.8302	0.35080	0.9087:0.0:0.0913:0.0	.	468;488	Q01064-2;Q01064	.;PDE1B_HUMAN	H	488;447;468	ENSP00000243052:R488H;ENSP00000442559:R447H;ENSP00000448519:R468H	ENSP00000243052:R488H	R	+	2	0	PDE1B	53256708	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	4.045000	0.57368	0.817000	0.34445	-0.340000	0.08031	CGC	.		0.562	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			A	54970441	G	A	54970441	3	1	33	1	0	0	0	0	1	0	0	0	11673	1087	38	1	1570	1	PDE1B	12	54970441	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	12446802	54970441	78881454	104	5176											
STAT2	6773	hgsc.bcm.edu	37	12	56743970	56743970	+	Silent	SNP	G	G	T	rs540221109		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:56743970G>T	ENST00000314128.4	-	13	1143	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000418572.2_Silent_p.R370R|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Silent_p.R370R			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	374					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R374W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTGAACTTCCGGAAGCTGTTC	0.408																																					p.R374R		.											STAT2,NS,carcinoma,0,1	STAT2	0	1	Substitution - Missense(1)	kidney(1)	c.C1120A						.						77	81	79					12																	56743970		2203	4300	6503	SO:0001819	synonymous_variant	6773	exon13			ACTTCCGGAAGCT	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1120C>A	12.37:g.56743970G>T		29	0		56	3	NM_005419	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	CCDS8917.1																																																																																			.		0.408	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		T	56743970	G	T	56743970	2	4	33	1	0	0	0	0	0	0	0	1	15312	1115	39	2		2	STAT2	12	56743970	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	1773529	56743970	77107925	105	5177											
RBMS2	5939	bcgsc.ca	37	12	56982715	56982715	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:56982715G>T	ENST00000262031.5	+	13	1238		c.e13-1		RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000552247.2_Splice_Site|RNU6-343P_ENST00000364709.1_RNA|RBMS2_ENST00000542360.1_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CTATGGCACAGGAGAGCAGCG	0.552																																					.													.	RBMS2	29	0			c.1144-1G>T						.						140	123	129					12																	56982715		2203	4300	6503	SO:0001630	splice_region_variant	5939	exon13			GGCACAGGAGAGC	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.1144-1G>T	12.37:g.56982715G>T		46	0		48	4	NM_002898		Splice_Site	SNP	ENST00000262031.5	37	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893579	0.33442	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7701	0.88489	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55268982	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	7.516000	0.81772	2.583000	0.87209	0.561000	0.74099	.	.		0.552	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898	Intron	T	56982715	G	T	56982715	5	4	33	1	0	0	0	0	0	0	1	0	13194	1014	35	3	1193	3	RBMS2	12	56982715	Splice_Site	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	238745	56982715	76869180	106	5178											
KIF5A	3798	hgsc.bcm.edu;bcgsc.ca	37	12	57960966	57960966	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:57960966G>T	ENST00000455537.2	+	7	833	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W	KIF5A_ENST00000286452.5_Missense_Mutation_p.G98W	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	187	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				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)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GATTGATGAAGGGAAATCAAA	0.498																																					p.G187W		.											.	.	.	0			c.G559T						.						165	155	158					12																	57960966		2203	4300	6503	SO:0001583	missense	3798	exon7			GATGAAGGGAAAT	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.559G>T	12.37:g.57960966G>T	ENSP00000408979:p.Gly187Trp	40	0		71	4	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708846	0.89018	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.83992	-1.79;-1.79	4.48	4.48	0.54585	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95604	0.8571	H	0.99842	4.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97791	1.0238	10	0.87932	D	0	.	16.4543	0.84008	0.0:0.0:1.0:0.0	.	98;187	B7Z2M7;Q12840	.;KIF5A_HUMAN	W	187;98	ENSP00000408979:G187W;ENSP00000286452:G98W	ENSP00000286452:G98W	G	+	1	0	KIF5A	56247233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.077000	0.94016	2.481000	0.83766	0.453000	0.30009	GGG	.		0.498	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57960966	G	T	57960966	3	4	33	1	0	0	0	0	1	0	0	0	8332	1000	35	3	585	3	KIF5A	12	57960966	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	978251	57960966	75890929	107	5179											
KCNC2	3747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	75436135	75436135	+	3'UTR	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:75436135G>A	ENST00000549446.1	-	0	3347				KCNC2_ENST00000548513.1_Silent_p.V600V|KCNC2_ENST00000341669.3_Intron|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000350228.2_Silent_p.V545V|KCNC2_ENST00000298972.1_Silent_p.V600V|KCNC2_ENST00000550433.1_Intron|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						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)	AACCAGTAATGACAACCTCTT	0.408																																					p.V600V		.											.	.	.	0			c.C1800T						.						128	105	113					12																	75436135		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3747	exon5			AGTAATGACAACC	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.*750C>T	12.37:g.75436135G>A		33	0		55	21	NM_139136	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	CCDS9007.1																																																																																			.		0.408	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		A	75436135	G	A	75436135	1	1	33	0	1	0	0	0	0	0	0	0	8042	1277	45	3		3	KCNC2	12	75436135	3'UTR	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	17475169	75436135	58415760	108	5180											
LRRIQ1	84125	hgsc.bcm.edu;bcgsc.ca	37	12	85547524	85547524	+	Missense_Mutation	SNP	T	T	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:85547524T>A	ENST00000393217.2	+	22	4686	c.4625T>A	c.(4624-4626)aTt>aAt	p.I1542N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1542										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)		GAAAAAAAAATTTCAGAAGAA	0.284																																					p.I1542N		.											LRRIQ1_ENST00000393217,caecum,carcinoma,0,1	LRRIQ1_ENST00000393217	0	0			c.T4625A						.						17	15	15					12																	85547524		1765	4034	5799	SO:0001583	missense	84125	exon22			AAAAAATTTCAGA	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.4625T>A	12.37:g.85547524T>A	ENSP00000376910:p.Ile1542Asn	58	0		74	5	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177568	0.57692	.	.	ENSG00000133640	ENST00000393217	T	0.62105	0.05	5.66	5.66	0.87406	.	.	.	.	.	T	0.69655	0.3135	L	0.27053	0.805	0.38326	D	0.943667	D	0.89917	1.0	D	0.87578	0.998	T	0.75994	-0.3121	9	0.87932	D	0	.	15.8939	0.79322	0.0:0.0:0.0:1.0	.	1542	Q96JM4	LRIQ1_HUMAN	N	1542	ENSP00000376910:I1542N	ENSP00000376910:I1542N	I	+	2	0	LRRIQ1	84071655	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.657000	0.67996	2.137000	0.66172	0.528000	0.53228	ATT	.		0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		A	85547524	T	A	85547524	3	1	33	1	0	0	0	0	1	0	0	0	9064	1493	52	5	4711	5	LRRIQ1	12	85547524	Missense_Mutation	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	10111389	85547524	48304371	109	5181											
IKBIP	121457	hgsc.bcm.edu;bcgsc.ca	37	12	99020313	99020313	+	Intron	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:99020313C>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Missense_Mutation_p.A177T|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						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						ATATGTTTTGCTTCTGATTTG	0.343																																					p.A177T		.											.	.	.	0			c.G529A						.						146	142	143					12																	99020313		2203	4300	6503	SO:0001627	intron_variant	121457	exon3			GTTTTGCTTCTGA	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.297+7760G>A	12.37:g.99020313C>T		38	0		39	4	NM_153687	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804800	0.31961	.	.	ENSG00000166130	ENST00000299157	T	0.44482	0.92	5.55	3.61	0.41365	.	0.976288	0.08447	N	0.944515	T	0.33440	0.0863	.	.	.	0.80722	D	1	B	0.22800	0.075	B	0.20184	0.028	T	0.02713	-1.1120	9	0.34782	T	0.22	-2.7545	9.2005	0.37256	0.1939:0.7284:0.0:0.0777	.	177	Q70UQ0-4	.	T	177	ENSP00000299157:A177T	ENSP00000299157:A177T	A	-	1	0	IKBIP	97544444	1.000000	0.71417	0.992000	0.48379	0.879000	0.50718	2.171000	0.42453	0.586000	0.29626	0.655000	0.94253	GCA	.		0.343	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		T	99020313	C	T	99020313	1	4	33	0	1	0	0	0	0	0	0	0	7636	797	28	3		3	IKBIP	12	99020313	Intron	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	13472789	99020313	34831582	110	5182											
NOS1	4842	hgsc.bcm.edu	37	12	117691478	117691478	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:117691478G>T	ENST00000338101.4	-	17	2719	c.2715C>A	c.(2713-2715)gaC>gaA	p.D905E	NOS1_ENST00000317775.6_Missense_Mutation_p.D871E|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)	p.D871E(1)		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)		TCTCAAAGTTGTCTCTGAGGT	0.557																																					p.D905E	Esophageal Squamous(162;1748 2599 51982 52956)	.											NOS1,NS,carcinoma,0,1	NOS1	0	1	Substitution - Missense(1)	breast(1)	c.C2715A						.						87	92	91					12																	117691478		2130	4245	6375	SO:0001583	missense	4842	exon18			AAAGTTGTCTCTG		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.2715C>A	12.37:g.117691478G>T	ENSP00000337459:p.Asp905Glu	28	0		27	2	NM_001204218		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036957	0.54896	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.58060	0.36;0.36	4.84	4.84	0.62591	Flavodoxin/nitric oxide synthase (2);	0.228724	0.45361	D	0.000372	T	0.55210	0.1906	M	0.73217	2.22	0.80722	D	1	P	0.36183	0.542	B	0.41135	0.348	T	0.54490	-0.8286	10	0.32370	T	0.25	-35.9197	12.5465	0.56203	0.0799:0.0:0.9201:0.0	.	871	P29475	NOS1_HUMAN	E	766;871;871;905	ENSP00000320758:D871E;ENSP00000337459:D905E	ENSP00000320758:D871E	D	-	3	2	NOS1	116175861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.807000	0.55591	2.524000	0.85096	0.655000	0.94253	GAC	.		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117691478	G	T	117691478	3	4	33	1	0	0	0	0	1	0	0	0	10580	1368	48	3	1743	3	NOS1	12	117691478	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	18671165	117691478	16160417	111	5183											
DHX37	57647	broad.mit.edu	37	12	125437072	125437072	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:125437072T>C	ENST00000308736.2	-	21	2838	c.2740A>G	c.(2740-2742)Atg>Gtg	p.M914V	DHX37_ENST00000544745.1_Missense_Mutation_p.M701V	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	914							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)		GGCGGCTGCATCTTGGGATCC	0.657																																					p.M914V													.	DHX37	114	0			c.A2740G						.						74	64	68					12																	125437072		2203	4300	6503	SO:0001583	missense	57647	exon21			GCTGCATCTTGGG	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.2740A>G	12.37:g.125437072T>C	ENSP00000311135:p.Met914Val	26	0		25	3	NM_032656	Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497995	0.85069	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03004	4.15;4.08	5.13	5.13	0.70059	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	M	0.74881	2.28	0.80722	D	1	P;D	0.53885	0.949;0.963	P;P	0.53593	0.73;0.695	T	0.00411	-1.1756	10	0.72032	D	0.01	-44.4367	14.9399	0.70986	0.0:0.0:0.0:1.0	.	701;914	F5H3Y4;Q8IY37	.;DHX37_HUMAN	V	914;701	ENSP00000311135:M914V;ENSP00000439009:M701V	ENSP00000311135:M914V	M	-	1	0	DHX37	124003025	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.268000	0.78473	1.928000	0.55862	0.379000	0.24179	ATG	.		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		C	125437072	T	C	125437072	3	2	33	1	0	0	0	0	1	0	0	0	4524	1435	50	4	761	4	DHX37	12	125437072	Missense_Mutation	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	7745594	125437072	8414823	112	5184											
ANKLE2	23141	hgsc.bcm.edu	37	12	133331415	133331415	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr12:133331415G>T	ENST00000357997.5	-	2	575	c.486C>A	c.(484-486)ggC>ggA	p.G162G	ANKLE2_ENST00000337516.5_Silent_p.G162G|ANKLE2_ENST00000539605.1_Silent_p.G100G	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	162					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)	p.G162G(1)		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)		GAGGATTCAGGCCCACACTGT	0.542																																					p.G162G		.											ANKLE2,NS,carcinoma,0,1	ANKLE2	0	1	Substitution - coding silent(1)	endometrium(1)	c.C486A						.						69	70	70					12																	133331415		1926	4137	6063	SO:0001819	synonymous_variant	23141	exon2			ATTCAGGCCCACA	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.486C>A	12.37:g.133331415G>T		48	0		65	3	NM_015114	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	CCDS41869.1																																																																																			.		0.542	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			T	133331415	G	T	133331415	2	4	33	1	0	0	0	0	0	0	0	1	633	1190	42	3		3	ANKLE2	12	133331415	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	7894343	133331415	520480	113	5185											
TPTE2	93492	hgsc.bcm.edu	37	13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	rs200244531		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|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		.											TPTE2_ENST00000400230,NS,carcinoma,0,1	TPTE2_ENST00000400230	0	1	Substitution - Missense(1)	kidney(1)	c.A128C						.						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	57	0		78	4	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	.		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056679	T	G	20056679	3	3	33	1	0	0	0	0	1	0	0	0	16479	1783	62	4	1508	4	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09		20056679	95113199	114	5186											
ATP12A	479	hgsc.bcm.edu	37	13	25274914	25274914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr13:25274914G>T	ENST00000381946.3	+	13	1902	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Nonsense_Mutation_p.E585*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	579					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)		GCCAGCAGACGAGTTTCCAGA	0.428																																					p.E585X	Pancreas(156;1582 1935 18898 22665 26498)	.											ATP12A,NS,carcinoma,0,1	ATP12A	0	0			c.G1753T						.						115	106	109					13																	25274914		2203	4300	6503	SO:0001587	stop_gained	479	exon13			GCAGACGAGTTTC	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.1735G>T	13.37:g.25274914G>T	ENSP00000371372:p.Glu579*	46	0		39	2	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	37	6.248533	0.97412	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	6.17	-0.686	0.11324	.	0.411149	0.25810	N	0.028152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.5371	0.27717	0.2286:0.1009:0.6705:0.0	.	.	.	.	X	585;579	.	ENSP00000218548:E585X	E	+	1	0	ATP12A	24172914	0.000000	0.05858	0.008000	0.14137	0.180000	0.23129	-0.281000	0.08456	-0.494000	0.06669	-0.302000	0.09304	GAG	.		0.428	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		T	25274914	G	T	25274914	4	4	33	1	0	0	0	0	0	1	0	0	1123	1059	37	2	1803	2	ATP12A	13	25274914	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	5218235	25274914	89894964	115	5187											
PCDH20	64881	hgsc.bcm.edu	37	13	61985616	61985616	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr13:61985616G>T	ENST00000409186.1	-	5	4721	c.2616C>A	c.(2614-2616)atC>atA	p.I872I	PCDH20_ENST00000409204.4_Silent_p.I872I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	872					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTATTGAGATTTGTGGTT	0.393																																					p.I872I		.											.	.	.	0			c.C2616A						.						85	76	79					13																	61985616		2203	4300	6503	SO:0001819	synonymous_variant	64881	exon2			TATTGAGATTTGT	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2616C>A	13.37:g.61985616G>T		33	0		51	4	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																			.		0.393	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		T	61985616	G	T	61985616	2	4	33	1	0	0	0	0	0	0	0	1	11554	932	33	3		3	PCDH20	13	61985616	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	36710702	61985616	53184262	116	5188											
DCT	1638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	95131418	95131418	+	Missense_Mutation	SNP	G	G	A	rs375600704		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr13:95131418G>A	ENST00000377028.5	-	1	505	c.92C>T	c.(91-93)aCg>aTg	p.T31M	DCT_ENST00000446125.1_Missense_Mutation_p.T31M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	31					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)		GCTGTCCACCGTCATGCAGAC	0.607																																					p.T31M		.											DCT_ENST00000446125,caecum,carcinoma,0,6	DCT_ENST00000446125	0	0			c.C92T						.	G	MET/THR,MET/THR	0,4406		0,0,2203	44	42	43		92,92	4.9	0.9	13		43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DCT	NM_001129889.1,NM_001922.3	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/553,31/520	95131418	1,13005	2203	4300	6503	SO:0001583	missense	1638	exon1			TCCACCGTCATGC	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.92C>T	13.37:g.95131418G>A	ENSP00000366227:p.Thr31Met	30	0		38	24	NM_001129889	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381740	0.61845	0.0	1.16E-4	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99207	-5.56;-5.53	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98256	1.0496	10	0.87932	D	0	-13.991	18.0391	0.89314	0.0:0.0:1.0:0.0	.	31;31	Q09GT4;P40126	.;TYRP2_HUMAN	M	31	ENSP00000366227:T31M;ENSP00000392762:T31M	ENSP00000366227:T31M	T	-	2	0	DCT	93929419	1.000000	0.71417	0.925000	0.36789	0.223000	0.24884	9.229000	0.95273	2.248000	0.74166	0.555000	0.69702	ACG	.		0.607	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			A	95131418	G	A	95131418	3	1	33	1	0	0	0	0	1	0	0	0	4313	1145	40	1	1606	1	DCT	13	95131418	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	33145802	95131418	20038460	117	5189											
FAM155A	728215	bcgsc.ca	37	13	108518801	108518801	+	Missense_Mutation	SNP	G	G	T	rs143077563		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr13:108518801G>T	ENST00000375915.2	-	1	282	c.144C>A	c.(142-144)ttC>ttA	p.F48L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	48						integral component of membrane (GO:0016021)		p.F48F(1)		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						GCAGGACTGTGAAAAACAAGA	0.577																																					p.F48L													FAM155A,arm,malignant_melanoma,0,1	FAM155A	82	1	Substitution - coding silent(1)	skin(1)	c.C144A						.						121	130	127					13																	108518801		2203	4300	6503	SO:0001583	missense	728215	exon1			GACTGTGAAAAAC	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.144C>A	13.37:g.108518801G>T	ENSP00000365080:p.Phe48Leu	43	0		51	4	NM_001080396	B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815948	0.50527	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.126864	0.52532	D	0.000063	T	0.42426	0.1202	N	0.03608	-0.345	0.47153	D	0.999334	B	0.21309	0.054	B	0.34346	0.18	T	0.42732	-0.9434	9	0.44086	T	0.13	.	17.5822	0.87971	0.0:0.0:1.0:0.0	.	48	B1AL88	F155A_HUMAN	L	48	.	ENSP00000365080:F48L	F	-	3	2	FAM155A	107316802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.078000	0.64425	2.390000	0.81377	0.650000	0.86243	TTC	.		0.577	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		T	108518801	G	T	108518801	3	4	33	1	0	0	0	0	1	0	0	0	5484	1281	45	3	1244	3	FAM155A	13	108518801	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	13387383	108518801	6651077	118	5190											
TNFSF13B	10673	hgsc.bcm.edu	37	13	108955854	108955854	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr13:108955854A>G	ENST00000375887.4	+	5	825	c.647A>G	c.(646-648)aAg>aGg	p.K216R	RNA5SP39_ENST00000411245.1_RNA|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.K197R|TNFSF13B_ENST00000479435.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	216					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	CAGAGGAAGAAGGTCCATGTC	0.383																																					p.K216R		.											.	.	.	0			c.A647G						.						161	143	149					13																	108955854		2203	4300	6503	SO:0001583	missense	10673	exon5			GGAAGAAGGTCCA	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.647A>G	13.37:g.108955854A>G	ENSP00000365048:p.Lys216Arg	82	0		92	4	NM_006573	E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208534	0.79240	.	.	ENSG00000102524	ENST00000430559;ENST00000375887	D;D	0.94897	-3.55;-3.55	6.16	6.16	0.99307	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.95746	0.8616	L	0.48642	1.525	0.80722	D	1	D;D	0.64830	0.994;0.966	D;P	0.64595	0.927;0.874	D	0.95686	0.8736	10	0.52906	T	0.07	-28.0739	15.9872	0.80168	1.0:0.0:0.0:0.0	.	197;216	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	R	197;216	ENSP00000389540:K197R;ENSP00000365048:K216R	ENSP00000365048:K216R	K	+	2	0	TNFSF13B	107753855	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.198000	0.77823	2.367000	0.80283	0.528000	0.53228	AAG	.		0.383	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			G	108955854	A	G	108955854	3	3	33	1	0	0	0	0	1	0	0	0	16353	72	3	4	665	4	TNFSF13B	13	108955854	Missense_Mutation	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09	437053	108955854	6214024	119	5191											
NID2	22795	bcgsc.ca	37	14	52535520	52535520	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr14:52535520G>T	ENST00000216286.5	-	1	192	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	NID2_ENST00000541773.1_Missense_Mutation_p.L12M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	65					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)					TAGAAGTGCAGGGGATTCGCC	0.617																																					p.L65M													.	NID2	201	0			c.C193A						.						106	91	96					14																	52535520		2203	4300	6503	SO:0001583	missense	22795	exon1			AGTGCAGGGGATT	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.193C>A	14.37:g.52535520G>T	ENSP00000216286:p.Leu65Met	49	0		61	4	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302979	0.40795	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.29917	1.55;1.55	4.81	1.9	0.25705	.	0.228562	0.37715	N	0.001970	T	0.44180	0.1281	L	0.59436	1.845	0.29755	N	0.83604	D;P;B	0.89917	1.0;0.926;0.199	D;B;B	0.91635	0.999;0.283;0.097	T	0.35276	-0.9795	10	0.51188	T	0.08	.	5.5617	0.17148	0.177:0.0:0.6647:0.1583	.	12;67;65	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	M	65;65;12;67	ENSP00000216286:L65M;ENSP00000443730:L12M	ENSP00000216286:L65M	L	-	1	2	NID2	51605270	0.954000	0.32549	0.596000	0.28811	0.451000	0.32288	1.835000	0.39181	0.102000	0.17638	-0.391000	0.06502	CTG	.		0.617	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			T	52535520	G	T	52535520	3	4	33	1	0	0	0	0	1	0	0	0	10454	991	35	3	4022	3	NID2	14	52535520	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		52535520	54814020	120	5192											
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	52978009	52978009	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr14:52978009C>T	ENST00000281741.4	-	9	1076	c.705G>A	c.(703-705)ttG>ttA	p.L235L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	235					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)					TCAGTGTAGTCAATGGCTGTT	0.358																																					p.L235L		.											.	.	.	0			c.G705A						.						171	159	163					14																	52978009		2203	4300	6503	SO:0001819	synonymous_variant	57544	exon9			TGTAGTCAATGGC	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.705G>A	14.37:g.52978009C>T		55	0		59	25	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	CCDS32083.1																																																																																			.		0.358	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		T	52978009	C	T	52978009	2	4	33	1	0	0	0	0	0	0	0	1	16844	825	29	3		3	TXNDC16	14	52978009	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	442489	52978009	54371531	121	5193											
DMXL2	23312	hgsc.bcm.edu	37	15	51778485	51778485	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr15:51778485C>T	ENST00000251076.5	-	23	5554	c.5267G>A	c.(5266-5268)cGt>cAt	p.R1756H	DMXL2_ENST00000449909.3_Missense_Mutation_p.R1120H|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1756H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1756						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)		TTCATATAAACGGGCAATAAC	0.318																																					p.R1756H		.											.	.	.	0			c.G5267A						.						82	84	83					15																	51778485		2196	4293	6489	SO:0001583	missense	23312	exon23			TATAAACGGGCAA	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.5267G>A	15.37:g.51778485C>T	ENSP00000251076:p.Arg1756His	99	0		81	2	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316315	0.95655	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.71341	-0.56;-0.56;-0.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89255	0.6663	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.91606	0.5299	10	0.87932	D	0	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	1756;1120;1756	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	H	1756;1756;1120	ENSP00000251076:R1756H;ENSP00000441858:R1756H;ENSP00000400855:R1120H	ENSP00000251076:R1756H	R	-	2	0	DMXL2	49565777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.614000	0.82996	2.746000	0.94184	0.655000	0.94253	CGT	.		0.318	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51778485	C	T	51778485	3	4	33	1	0	0	0	0	1	0	0	0	4609	536	19	1	3930	1	DMXL2	15	51778485	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09		51778485	50752907	122	5194											
HEXA	3073	hgsc.bcm.edu	37	15	72648952	72648952	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr15:72648952C>A	ENST00000268097.5	-	2	763	c.260G>T	c.(259-261)cGg>cTg	p.R87L	HEXA_ENST00000566304.1_Missense_Mutation_p.R98L|HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000567159.1_Missense_Mutation_p.R87L|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	87					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAGTGTATGCCGTTTCCCTAG	0.502																																					p.R87L		.											HEXA,NS,carcinoma,0,1	HEXA	0	0			c.G260T						.						196	141	160					15																	72648952		2199	4297	6496	SO:0001583	missense	3073	exon2			GTATGCCGTTTCC	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.260G>T	15.37:g.72648952C>A	ENSP00000268097:p.Arg87Leu	18	0		27	2	NM_000520	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	8.382	0.837857	0.16891	.	.	ENSG00000213614	ENST00000268097	D	0.88124	-2.34	4.4	-8.8	0.00817	Acetylhexosaminidase, subunit a/b (1);	2.461850	0.01263	N	0.009247	T	0.69115	0.3075	N	0.04746	-0.17	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.44360	-0.9333	10	0.23891	T	0.37	0.1947	7.4358	0.27154	0.2071:0.1537:0.0:0.6391	.	98;87	B4DVA7;P06865	.;HEXA_HUMAN	L	87	ENSP00000268097:R87L	ENSP00000268097:R87L	R	-	2	0	HEXA	70436006	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.169000	0.03120	-1.411000	0.02032	-0.244000	0.11960	CGG	.		0.502	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		A	72648952	C	A	72648952	3	1	33	1	0	0	0	0	1	0	0	0	7100	652	23	2	1381	2	HEXA	15	72648952	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	20870467	72648952	29882440	123	5195											
NTRK3	4916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	88690583	88690583	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr15:88690583C>A	ENST00000360948.2	-	5	608	c.447G>T	c.(445-447)acG>acT	p.T149T	NTRK3_ENST00000558676.1_Silent_p.T149T|NTRK3_ENST00000542733.2_Silent_p.T51T|NTRK3_ENST00000355254.2_Silent_p.T149T|NTRK3_ENST00000394480.2_Silent_p.T149T|NTRK3_ENST00000317501.3_Silent_p.T149T|NTRK3_ENST00000357724.2_Silent_p.T149T|NTRK3_ENST00000540489.2_Silent_p.T149T|NTRK3_ENST00000557856.1_Silent_p.T149T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	149			T -> R (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)			GAAGACTCAGCGTCTGGAAGA	0.473			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																											p.T149T		.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	NTRK3_ENST00000360948,caecum,carcinoma,-1,3	NTRK3_ENST00000360948	-1	0			c.G447T						.						82	68	73					15																	88690583		2201	4299	6500	SO:0001819	synonymous_variant	4916	exon6			ACTCAGCGTCTGG	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.447G>T	15.37:g.88690583C>A		23	0		32	12	NM_001243101	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																			.		0.473	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88690583	C	A	88690583	2	1	33	1	0	0	0	0	0	0	0	1	10747	755	27	2		2	NTRK3	15	88690583	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	16041631	88690583	13840809	124	5196											
PRC1	9055	bcgsc.ca	37	15	91517385	91517385	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr15:91517385G>T	ENST00000361188.5	-	11	2653	c.1442C>A	c.(1441-1443)aCa>aAa	p.T481K	PRC1_ENST00000361919.3_Missense_Mutation_p.T481K|PRC1_ENST00000442656.2_Missense_Mutation_p.T440K|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.T481K					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTTGCCCGGTGTATTGGGAGC	0.532																																					p.T481K													.	PRC1	51	0			c.C1442A						.						226	185	199					15																	91517385		2198	4298	6496	SO:0001583	missense	9055	exon11			CCCGGTGTATTGG	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1442C>A	15.37:g.91517385G>T	ENSP00000354679:p.Thr481Lys	45	0		59	4	NM_199413		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	7.014	0.557359	0.13436	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.64	2.65	0.31530	.	0.138509	0.64402	N	0.000004	T	0.30103	0.0754	L	0.40543	1.245	0.28229	N	0.926186	B;B;B;B	0.11235	0.001;0.001;0.003;0.004	B;B;B;B	0.25506	0.011;0.036;0.036;0.061	T	0.18713	-1.0328	10	0.26408	T	0.33	.	5.7557	0.18172	0.0675:0.1199:0.5511:0.2616	.	440;481;451;481	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	K	481;481;481;84;440	ENSP00000377793:T481K;ENSP00000354618:T481K;ENSP00000354679:T481K;ENSP00000409549:T440K	ENSP00000354679:T481K	T	-	2	0	PRC1	89318389	1.000000	0.71417	0.013000	0.15412	0.042000	0.13812	3.904000	0.56325	0.419000	0.25927	0.650000	0.86243	ACA	.		0.532	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		T	91517385	G	T	91517385	3	4	33	1	0	0	0	0	1	0	0	0	12488	1377	48	3	440	3	PRC1	15	91517385	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	2826802	91517385	11014007	125	5197											
IGF1R	3480	hgsc.bcm.edu	37	15	99460004	99460004	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr15:99460004C>T	ENST00000268035.6	+	10	2711	c.2100C>T	c.(2098-2100)tgC>tgT	p.C700C	IGF1R_ENST00000558762.1_Silent_p.C700C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	700	Fibronectin type-III 2. {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)"	GGCCTTGCTGCGCCTGCCCCA	0.552																																					p.C700C		.											.	.	.	0			c.C2100T						.						70	69	69					15																	99460004		2197	4297	6494	SO:0001819	synonymous_variant	3480	exon10			TTGCTGCGCCTGC	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.2100C>T	15.37:g.99460004C>T		66	0		59	3	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																			.		0.552	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99460004	C	T	99460004	2	4	33	1	0	0	0	0	0	0	0	1	7598	776	27	1		1	IGF1R	15	99460004	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	7942619	99460004	3071388	126	5198											
RGS11	8786	hgsc.bcm.edu	37	16	320814	320814	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:320814G>A	ENST00000397770.3	-	14	1013	c.996C>T	c.(994-996)ttC>ttT	p.F332F	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.F311F|RGS11_ENST00000359740.5_Silent_p.F321F			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	332	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)|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)				ATGCCTCCCAGAAGCTGAGGT	0.652																																					p.F332F		.											.	.	.	0			c.C996T						.						22	19	20					16																	320814		2202	4298	6500	SO:0001819	synonymous_variant	8786	exon14			CTCCCAGAAGCTG	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.996C>T	16.37:g.320814G>A		7	0		16	8	NM_183337	O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	CCDS42088.1																																																																																			.		0.652	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			A	320814	G	A	320814	2	1	33	1	0	0	0	0	0	0	0	1	13339	933	33	3		3	RGS11	16	320814	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		320814	90033939	127	5199											
WDR90	197335	hgsc.bcm.edu	37	16	703802	703802	+	Splice_Site	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:703802C>T	ENST00000293879.4	+	13	1436	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	WDR90_ENST00000549091.1_Splice_Site_p.T479M|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	479								p.T479M(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CACGGGAGGACGGTAACAGGG	0.627																																					p.T479M		.											WDR90,bladder,carcinoma,0,1	WDR90	0	1	Substitution - Missense(1)	urinary_tract(1)	c.C1436T						.						34	40	38					16																	703802		1988	4157	6145	SO:0001630	splice_region_variant	197335	exon13			GGAGGACGGTAAC	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.1437+1C>T	16.37:g.703802C>T		29	0		38	2	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438148	0.43326	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.31247	1.53;1.5	4.74	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000004	T	0.35508	0.0934	M	0.83692	2.655	0.80722	D	1	D;D;D	0.64830	0.969;0.994;0.958	B;B;B	0.40602	0.329;0.334;0.242	T	0.41179	-0.9523	10	0.46703	T	0.11	.	11.6224	0.51126	0.0:0.9116:0.0:0.0884	.	479;480;479	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	M	479	ENSP00000448122:T479M;ENSP00000293879:T479M	ENSP00000293879:T479M	T	+	2	0	WDR90	643803	0.864000	0.29904	0.998000	0.56505	0.906000	0.53458	1.844000	0.39269	0.986000	0.38683	0.561000	0.74099	ACG	.		0.627	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	Missense_Mutation	T	703802	C	T	703802	5	4	33	1	0	0	0	0	0	0	1	0	17386	550	19	1	1486	1	WDR90	16	703802	Splice_Site	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	382988	703802	89650951	128	5200											
PPL	5493	broad.mit.edu	37	16	4953901	4953901	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:4953901G>T	ENST00000345988.2	-	3	392	c.303C>A	c.(301-303)gaC>gaA	p.D101E	PPL_ENST00000590782.2_Missense_Mutation_p.D101E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	101					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						CGGCGATCATGTCCCCCTGTG	0.617																																					p.D101E													PPL,head_neck,malignant_melanoma,-2,1	PPL	168	0			c.C303A						.						102	90	94					16																	4953901		2197	4300	6497	SO:0001583	missense	5493	exon3			GATCATGTCCCCC	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.303C>A	16.37:g.4953901G>T	ENSP00000340510:p.Asp101Glu	62	0		59	3	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	4.665	0.123643	0.08931	.	.	ENSG00000118898	ENST00000345988	T	0.33654	1.4	5.19	4.02	0.46733	.	0.058760	0.64402	D	0.000002	T	0.40619	0.1124	L	0.31804	0.96	0.36592	D	0.874153	D	0.76494	0.999	D	0.78314	0.991	T	0.19289	-1.0310	10	0.02654	T	1	.	13.6575	0.62346	0.1346:0.0:0.8654:0.0	.	101	O60437	PEPL_HUMAN	E	101	ENSP00000340510:D101E	ENSP00000340510:D101E	D	-	3	2	PPL	4893902	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	3.126000	0.50477	2.406000	0.81754	0.591000	0.81541	GAC	.		0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4953901	G	T	4953901	3	4	33	1	0	0	0	0	1	0	0	0	12376	1368	48	3	5047	3	PPL	16	4953901	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	4250099	4953901	85400852	129	5201											
XYLT1	64131	hgsc.bcm.edu	37	16	17228428	17228428	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:17228428G>A	ENST00000261381.6	-	9	2013	c.1929C>T	c.(1927-1929)agC>agT	p.S643S	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	643					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						CGTCGCTCAGGCTGTGGATGC	0.622																																					p.S643S		.											.	.	.	0			c.C1929T						.						114	99	104					16																	17228428		2197	4300	6497	SO:0001819	synonymous_variant	64131	exon9			GCTCAGGCTGTGG	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.1929C>T	16.37:g.17228428G>A		31	0		72	4	NM_022166	Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																			.		0.622	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17228428	G	A	17228428	2	1	33	1	0	0	0	0	0	0	0	1	17512	1194	42	3		3	XYLT1	16	17228428	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	12274527	17228428	73126325	130	5202											
LONP2	83752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	48333669	48333669	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:48333669C>T	ENST00000285737.4	+	10	1724	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	LONP2_ENST00000535754.1_Missense_Mutation_p.P500L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATTCAGATACCCCAGGTCACC	0.478																																					p.P544L		.											.	.	.	0			c.C1631T						.						118	116	117					16																	48333669		2200	4300	6500	SO:0001583	missense	83752	exon10			AGATACCCCAGGT	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1631C>T	16.37:g.48333669C>T	ENSP00000285737:p.Pro544Leu	34	0		31	10	NM_031490		Missense_Mutation	SNP	ENST00000285737.4	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498908	0.85069	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.39997	1.05;1.05;1.05	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.77712	2.385	0.80722	D	1	P;P	0.50443	0.919;0.935	B;P	0.45474	0.401;0.482	T	0.56529	-0.7964	10	0.42905	T	0.14	-19.5673	19.9699	0.97282	0.0:1.0:0.0:0.0	.	500;544	B7ZKL7;Q86WA8	.;LONP2_HUMAN	L	544;273;500;500	ENSP00000285737:P544L;ENSP00000445426:P500L;ENSP00000415983:P500L	ENSP00000285737:P544L	P	+	2	0	LONP2	46891170	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.719000	0.84751	2.730000	0.93505	0.591000	0.81541	CCC	.		0.478	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		T	48333669	C	T	48333669	3	4	33	1	0	0	0	0	1	0	0	0	8928	623	22	3	1669	3	LONP2	16	48333669	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	31105241	48333669	42021084	131	5203											
NKD1	85407	hgsc.bcm.edu	37	16	50664815	50664815	+	Missense_Mutation	SNP	C	C	T	rs200257763		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:50664815C>T	ENST00000268459.3	+	8	913	c.689C>T	c.(688-690)cCg>cTg	p.P230L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	230					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P230L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAGCGAGCCCCGCTCAGGTAT	0.592																																					p.P230L		.											NKD1,colon,carcinoma,0,1	NKD1	0	1	Substitution - Missense(1)	large_intestine(1)	c.C689T						.	C	LEU/PRO	1,4351		0,1,2175	36	30	32		689	3.7	0.8	16		32	0,8582		0,0,4291	yes	missense	NKD1	NM_033119.4	98	0,1,6466	TT,TC,CC		0.0,0.023,0.0077	benign	230/471	50664815	1,12933	2176	4291	6467	SO:0001583	missense	85407	exon8			GAGCCCCGCTCAG	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.689C>T	16.37:g.50664815C>T	ENSP00000268459:p.Pro230Leu	20	0		29	2	NM_033119	B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	7.412	0.634896	0.14322	2.3E-4	0.0	ENSG00000140807	ENST00000268459	T	0.61859	0.07	4.69	3.72	0.42706	.	0.320500	0.34531	N	0.003897	T	0.40297	0.1111	L	0.31294	0.92	0.44454	D	0.997382	B	0.06786	0.001	B	0.06405	0.002	T	0.14117	-1.0484	10	0.12430	T	0.62	-5.2668	9.9061	0.41377	0.0:0.9011:0.0:0.0989	.	230	Q969G9	NKD1_HUMAN	L	230	ENSP00000268459:P230L	ENSP00000268459:P230L	P	+	2	0	NKD1	49222316	0.996000	0.38824	0.765000	0.31456	0.761000	0.43186	3.404000	0.52623	0.917000	0.36895	0.467000	0.42956	CCG	.		0.592	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			T	50664815	C	T	50664815	3	4	33	1	0	0	0	0	1	0	0	0	10480	652	23	1	719	1	NKD1	16	50664815	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	2331146	50664815	39689938	132	5204											
RPGRIP1L	23322	hgsc.bcm.edu	37	16	53726057	53726057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:53726057G>T	ENST00000379925.3	-	4	500	c.450C>A	c.(448-450)taC>taA	p.Y150*	RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.Y150*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.Y150*|RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.Y150*	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	150					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.Y150*(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)				GTACATTATTGTATGGAGTTT	0.383																																					p.Y150X		.											RPGRIP1L,NS,carcinoma,0,1	RPGRIP1L	0	1	Substitution - Nonsense(1)	lung(1)	c.C450A						.						286	265	272					16																	53726057		2198	4300	6498	SO:0001587	stop_gained	23322	exon4			ATTATTGTATGGA		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.450C>A	16.37:g.53726057G>T	ENSP00000369257:p.Tyr150*	47	0		65	3	NM_001127897	A0PJ88|Q9Y2K8	Nonsense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053673	0.36277	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.83	3.86	0.44501	.	0.121936	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.318	13.1266	0.59358	0.1154:0.0:0.8846:0.0	.	.	.	.	X	150	.	ENSP00000262135:Y150X	Y	-	3	2	RPGRIP1L	52283558	0.856000	0.29760	0.960000	0.40013	0.803000	0.45373	0.391000	0.20784	2.763000	0.94921	0.563000	0.77884	TAC	.		0.383	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		T	53726057	G	T	53726057	4	4	33	1	0	0	0	0	0	1	0	0	13595	1372	48	3	3593	3	RPGRIP1L	16	53726057	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	3061242	53726057	36628696	133	5205											
CES7	221223	hgsc.bcm.edu	37	16	55880742	55880742	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:55880742C>A	ENST00000290567.9	-	12	1555	c.1434G>T	c.(1432-1434)acG>acT	p.T478T	CES5A_ENST00000319165.9_Silent_p.T428T|CES5A_ENST00000518005.1_Silent_p.T372T|CES5A_ENST00000520435.1_Silent_p.T448T|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000521992.1_Silent_p.T507T	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	478						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						TCTCCTCCTCCGTGGCTCCTT	0.537																																					p.T507T		.											CES5A_ENST00000521992,NS,carcinoma,-1,2	CES5A_ENST00000521992	-1	0			c.G1521T						.						157	154	155					16																	55880742		2198	4300	6498	SO:0001819	synonymous_variant	221223	exon13			CTCCTCCGTGGCT	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.1434G>T	16.37:g.55880742C>A		25	0		24	2	NM_001190158	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	CCDS45490.1																																																																																			.		0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		A	55880742	C	A	55880742	2	1	33	1	0	0	0	0	0	0	0	1	3279	639	23	2		2	CES7	16	55880742	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	2154685	55880742	34474011	134	5206											
CHST4	10164	hgsc.bcm.edu	37	16	71571735	71571735	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:71571735C>A	ENST00000338482.5	+	3	1498	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.I385I|CHST4_ENST00000539698.3_Silent_p.I385I|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	385					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						CTGAGCAAATCCACTAAGAGG	0.498											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I385I		.											.	.	.	0			c.C1155A						.						42	43	43					16																	71571735		2179	4268	6447	SO:0001819	synonymous_variant	10164	exon2			GCAAATCCACTAA	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.1155C>A	16.37:g.71571735C>A		37	0	1131	37	4	NM_001166395	Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	CCDS10902.1																																																																																			.		0.498	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		A	71571735	C	A	71571735	2	1	33	1	0	0	0	0	0	0	0	1	3413	845	30	3		3	CHST4	16	71571735	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	15690993	71571735	18783018	135	5207											
OSGIN1	29948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	83998838	83998838	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr16:83998838C>A	ENST00000343939.2	+	7	1292	c.909C>A	c.(907-909)ttC>ttA	p.F303L	OSGIN1_ENST00000361711.3_Missense_Mutation_p.F220L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F220L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	303					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						GCCCCCTCTTCCAGGTGAGCG	0.677																																					p.F220L		.											.	.	.	0			c.C660A						.						51	59	56					16																	83998838		2200	4300	6500	SO:0001583	missense	29948	exon6			CCTCTTCCAGGTG	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.909C>A	16.37:g.83998838C>A	ENSP00000343376:p.Phe303Leu	31	0		33	15	NM_182981	Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37		.	.	.	.	.	.	.	.	.	.	C	12.45	1.941417	0.34283	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.21031	3.01;2.03;2.03	4.8	3.85	0.44370	.	0.101272	0.64402	D	0.000001	T	0.22360	0.0539	L	0.50333	1.59	0.80722	D	1	P	0.44195	0.828	B	0.43950	0.437	T	0.01587	-1.1318	10	0.62326	D	0.03	-1.62	8.6559	0.34062	0.0:0.8032:0.0:0.1968	.	303	Q9UJX0	OSGI1_HUMAN	L	303;220;220	ENSP00000343376:F303L;ENSP00000355374:F220L;ENSP00000376983:F220L	ENSP00000343376:F303L	F	+	3	2	OSGIN1	82556339	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.971000	0.29396	1.015000	0.39444	0.467000	0.42956	TTC	.		0.677	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		A	83998838	C	A	83998838	3	1	33	1	0	0	0	0	1	0	0	0	11328	854	30	3	935	3	OSGIN1	16	83998838	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	12427103	83998838	6355915	136	5208											
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	18023111	18023111	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:18023111G>A	ENST00000205890.5	+	2	1335	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	333					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)					CGATGGGTACGAGGGCGAGGC	0.602																																					p.E333K		.											.	.	.	0			c.G997A						.						71	78	76					17																	18023111		2002	4165	6167	SO:0001583	missense	51168	exon2			GGGTACGAGGGCG	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.997G>A	17.37:g.18023111G>A	ENSP00000205890:p.Glu333Lys	74	0		120	51	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792525	0.31685	.	.	ENSG00000091536	ENST00000205890	D	0.89270	-2.49	5.35	3.21	0.36854	.	.	.	.	.	T	0.75110	0.3805	N	0.19112	0.55	0.09310	N	0.999992	B	0.33494	0.414	B	0.17098	0.017	T	0.64698	-0.6346	9	0.38643	T	0.18	.	4.0566	0.09819	0.079:0.1476:0.5012:0.2722	.	333	Q9UKN7	MYO15_HUMAN	K	333	ENSP00000205890:E333K	ENSP00000205890:E333K	E	+	1	0	MYO15A	17963836	0.298000	0.24417	0.127000	0.21898	0.540000	0.34992	2.666000	0.46799	1.230000	0.43646	0.561000	0.74099	GAG	.		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18023111	G	A	18023111	3	1	33	1	0	0	0	0	1	0	0	0	10101	1059	37	1	999	1	MYO15A	17	18023111	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		18023111	63172099	137	5209											
RARA	5914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38510560	38510560	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:38510560C>T	ENST00000254066.5	+	7	1269	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R272W|RARA_ENST00000425707.3_Missense_Mutation_p.R175W|RARA_ENST00000394086.3_Missense_Mutation_p.R288W|RARA_ENST00000394081.3_Missense_Mutation_p.R267W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	272	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|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 granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|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)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCAGATCCTGCGGATCTGCAC	0.647			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																p.R272W		.		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	RARA,colon,carcinoma,0,1	RARA	0	0			c.C814T						.						73	60	64					17																	38510560		2203	4300	6503	SO:0001583	missense	5914	exon7			ATCCTGCGGATCT	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.814C>T	17.37:g.38510560C>T	ENSP00000254066:p.Arg272Trp	34	0		46	18	NM_000964	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310289	0.40895	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	4.93	3.94	0.45596	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.93550	3.43	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	0.99342	1.0912	10	0.87932	D	0	.	13.543	0.61686	0.1574:0.8426:0.0:0.0	.	175;267;272	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	W	272;175;272;288;267;265;159	ENSP00000254066:R272W;ENSP00000389993:R175W;ENSP00000377649:R272W;ENSP00000377648:R288W;ENSP00000377643:R267W	ENSP00000254066:R272W	R	+	1	2	RARA	35764086	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	0.830000	0.27462	1.266000	0.44231	0.591000	0.81541	CGG	.		0.647	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			T	38510560	C	T	38510560	3	4	33	1	0	0	0	0	1	0	0	0	13097	759	27	1	1003	1	RARA	17	38510560	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	20487449	38510560	42684650	138	5210											
KRTAP4-2	85291	hgsc.bcm.edu	37	17	39334273	39334273	+	Silent	SNP	C	C	G	rs201015994	byFrequency	TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:39334273C>G	ENST00000377726.2	-	1	187	c.144G>C	c.(142-144)ccG>ccC	p.P48P		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	48	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.P165P(1)|p.P48P(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCAGCACTGCGGTCTGCAGC	0.672													C|||	7	0.00139776	0.0045	0	5008	,	,		16922	0		0.001	False		,,,				2504	0				p.P48P		.											KRTAP4-2_ENST00000458321,NS,carcinoma,0,2	KRTAP4-2_ENST00000458321	0	2	Substitution - coding silent(2)	kidney(2)	c.G144C						.						35	42	40					17																	39334273		2202	4290	6492	SO:0001819	synonymous_variant	85291	exon1			GCACTGCGGTCTG	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.144G>C	17.37:g.39334273C>G		62	0		93	5	NM_033062	A0JP64	Silent	SNP	ENST00000377726.2	37	CCDS11384.1																																																																																			0.001		0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			G	39334273	C	G	39334273	2	3	33	1	0	0	0	0	0	0	0	1	8579	755	27	5		5	KRTAP4-2	17	39334273	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	823713	39334273	41860937	139	5211											
KAT2A	2648	hgsc.bcm.edu	37	17	40266620	40266620	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:40266620G>T	ENST00000225916.5	-	14	2075	c.2022C>A	c.(2020-2022)atC>atA	p.I674I	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	674					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						GCTTCTTGATGATCTGAGGGA	0.622																																					p.I674I		.											KAT2A,NS,carcinoma,0,1	KAT2A	0	0			c.C2022A						.						74	69	71					17																	40266620		2203	4300	6503	SO:0001819	synonymous_variant	2648	exon14			CTTGATGATCTGA	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.2022C>A	17.37:g.40266620G>T		26	0		22	2	NM_021078	Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	CCDS11417.1																																																																																			.		0.622	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		T	40266620	G	T	40266620	2	4	33	1	0	0	0	0	0	0	0	1	8008	1280	45	3		3	KAT2A	17	40266620	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	932347	40266620	40928590	140	5212											
ASB16	92591	hgsc.bcm.edu	37	17	42248325	42248325	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:42248325C>T	ENST00000293414.1	+	1	252	c.168C>T	c.(166-168)tgC>tgT	p.C56C		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	56					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)		ACCGTTCCTGCCGAGACCCAG	0.662																																					p.C56C		.											.	.	.	0			c.C168T						.						27	25	25					17																	42248325		2203	4300	6503	SO:0001819	synonymous_variant	92591	exon1			TTCCTGCCGAGAC	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.168C>T	17.37:g.42248325C>T		59	0		80	3	NM_080863	B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	CCDS11478.1																																																																																			.		0.662	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			T	42248325	C	T	42248325	2	4	33	1	0	0	0	0	0	0	0	1	1021	747	26	3		3	ASB16	17	42248325	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	1981705	42248325	38946885	141	5213											
SKA2	348235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	57232319	57232319	+	Intron	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:57232319G>T	ENST00000330137.7	-	1	139				SKA2_ENST00000578105.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000437036.2_Silent_p.L42L|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000580541.1_Silent_p.L42L|SKA2_ENST00000583927.1_Intron|PRR11_ENST00000262293.4_5'Flank	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2						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)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612																																					p.L42L		.											.	.	.	2	Substitution - coding silent(2)	lung(2)	c.C126A						.						62	68	66					17																	57232319		1900	4094	5994	SO:0001627	intron_variant	348235	exon1			TTACCCGAGGCGG	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"family with sequence similarity 33, member A"	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.33+172C>A	17.37:g.57232319G>T		81	0		100	42	NM_001100595	A6NIL3|B3KPL3|E9PCB8	Silent	SNP	ENST00000330137.7	37	CCDS45747.1																																																																																			.		0.612	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		T	57232319	G	T	57232319	1	4	33	0	1	0	0	0	0	0	0	0	14398	1045	37	2		2	SKA2	17	57232319	Intron	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	14983994	57232319	23962891	142	5214											
HEATR6	63897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	58148096	58148096	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:58148096C>T	ENST00000184956.6	-	6	788	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	HEATR6_ENST00000585976.1_Missense_Mutation_p.E258K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	258							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)			GCTCCAAGTTCATCAGTCTGT	0.403																																					p.E258K		.											HEATR6,NS,carcinoma,0,1	HEATR6	0	0			c.G772A						.						208	180	190					17																	58148096		2203	4300	6503	SO:0001583	missense	63897	exon6			CAAGTTCATCAGT	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.772G>A	17.37:g.58148096C>T	ENSP00000184956:p.Glu258Lys	42	0		54	17	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082266	0.36758	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.44083	0.93	5.2	1.42	0.22433	Armadillo-type fold (1);	0.289846	0.38492	N	0.001676	T	0.30634	0.0771	L	0.50333	1.59	0.29443	N	0.859025	B;B	0.28713	0.002;0.22	B;B	0.25140	0.002;0.058	T	0.18178	-1.0345	10	0.20046	T	0.44	-3.3738	8.6638	0.34108	0.0:0.3448:0.5491:0.1061	.	105;258	E7ESB9;Q6AI08	.;HEAT6_HUMAN	K	258;105	ENSP00000184956:E258K	ENSP00000184956:E258K	E	-	1	0	HEATR6	55502878	0.995000	0.38212	0.911000	0.35937	0.959000	0.62525	1.445000	0.35079	0.615000	0.30124	-0.355000	0.07637	GAA	.		0.403	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		T	58148096	C	T	58148096	3	4	33	1	0	0	0	0	1	0	0	0	7060	835	29	3	2833	3	HEATR6	17	58148096	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	915777	58148096	23047114	143	5215											
ABCA10	10349	hgsc.bcm.edu	37	17	67212428	67212428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:67212428G>T	ENST00000269081.4	-	8	1511	c.602C>A	c.(601-603)tCa>tAa	p.S201*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.S201*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.S201*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	201					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)					AATTGGGATTGATGTTATGAC	0.368																																					p.S201X		.											.	.	.	0			c.C602A						.						165	168	167					17																	67212428		2203	4300	6503	SO:0001587	stop_gained	10349	exon8			GGGATTGATGTTA	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.602C>A	17.37:g.67212428G>T	ENSP00000269081:p.Ser201*	54	0		98	5	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	39	7.435404	0.98282	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.34	-6.69	0.01772	.	0.279785	0.18958	U	0.126480	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	5.2708	0.15624	0.506:0.0:0.3588:0.1353	.	.	.	.	X	201	.	ENSP00000269081:S201X	S	-	2	0	ABCA10	64724023	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.761000	0.04751	-1.164000	0.02790	-0.888000	0.02935	TCA	.		0.368	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		T	67212428	G	T	67212428	4	4	33	1	0	0	0	0	0	1	0	0	29	1294	45	3	4161	3	ABCA10	17	67212428	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	9064332	67212428	13982782	144	5216											
GRB2	2885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	73317898	73317898	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:73317898C>T	ENST00000392562.1	-	5	1092	c.310G>A	c.(310-312)Gat>Aat	p.D104N	GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Missense_Mutation_p.D63N|GRB2_ENST00000392563.1_Missense_Mutation_p.D63N|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000392564.1_Missense_Mutation_p.D104N|GRB2_ENST00000316804.5_Missense_Mutation_p.D104N			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	104	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)	TGCTGCACATCGTTTCCAAAC	0.488																																					p.D104N		.											.	.	.	0			c.G310A						.						56	51	53					17																	73317898		2203	4300	6503	SO:0001583	missense	2885	exon5			GCACATCGTTTCC		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.310G>A	17.37:g.73317898C>T	ENSP00000376345:p.Asp104Asn	17	0		18	9	NM_002086	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783316	0.49891	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-1.6;-1.6	5.95	4.99	0.66335	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	N	0.25825	0.765	0.80722	D	1	B;B	0.24651	0.108;0.103	B;B	0.22880	0.018;0.042	T	0.77360	-0.2617	10	0.25106	T	0.35	-32.4949	15.136	0.72566	0.0:0.9327:0.0:0.0673	.	63;104	P62993-2;P62993	.;GRB2_HUMAN	N	104;104;104;63;63	ENSP00000339007:D104N;ENSP00000376345:D104N;ENSP00000376347:D104N;ENSP00000376346:D63N;ENSP00000317360:D63N	ENSP00000317360:D63N	D	-	1	0	GRB2	70829493	1.000000	0.71417	0.428000	0.26697	0.315000	0.28087	7.818000	0.86416	1.535000	0.49220	-0.136000	0.14681	GAT	.		0.488	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			T	73317898	C	T	73317898	3	4	33	1	0	0	0	0	1	0	0	0	6785	884	31	1	351	1	GRB2	17	73317898	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	6105470	73317898	7877312	145	5217											
RNF213	57674	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	78325495	78325495	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:78325495A>G	ENST00000582970.1	+	32	10338	c.10195A>G	c.(10195-10197)Ata>Gta	p.I3399V	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.I1472V|RNF213_ENST00000508628.2_Missense_Mutation_p.I3448V|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3399					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)			GTATTCTGTTATAAATGAAAT	0.353																																					p.I3399V		.											.	.	.	0			c.A10195G						.						46	49	48					17																	78325495		2203	4299	6502	SO:0001583	missense	57674	exon32			TCTGTTATAAATG	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.10195A>G	17.37:g.78325495A>G	ENSP00000464087:p.Ile3399Val	109	0		139	60	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	.	.	.	.	.	.	.	.	.	.	A	4.417	0.077179	0.08485	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.16457	2.34	5.01	-2.45	0.06481	.	0.591173	0.17271	N	0.180393	T	0.08758	0.0217	L	0.33189	0.99	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.39683	-0.9602	10	0.11485	T	0.65	.	6.0835	0.19954	0.2047:0.3266:0.4688:0.0	.	1472	Q63HN8	RN213_HUMAN	V	3399;3448;1472	ENSP00000338218:I1472V	ENSP00000338218:I1472V	I	+	1	0	RNF213	75940090	0.294000	0.24380	0.001000	0.08648	0.346000	0.29079	0.838000	0.27572	-0.301000	0.08882	-0.408000	0.06270	ATA	.		0.353	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78325495	A	G	78325495	3	3	33	1	0	0	0	0	1	0	0	0	13522	449	16	4	10636	4	RNF213	17	78325495	Missense_Mutation	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09	5007597	78325495	2869715	146	5218											
NARF	26502	bcgsc.ca	37	17	80443387	80443387	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr17:80443387A>G	ENST00000309794.11	+	10	1184	c.986A>G	c.(985-987)cAa>cGa	p.Q329R	NARF_ENST00000345415.7_Missense_Mutation_p.Q281R|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000457415.3_Missense_Mutation_p.Q375R|NARF_ENST00000390006.4_Missense_Mutation_p.Q270R	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	329						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAAGACTTCCAAGAGGTCACC	0.418																																					p.Q329R													.	NARF	51	0			c.A986G						.						117	114	115					17																	80443387		2203	4300	6503	SO:0001583	missense	26502	exon10			ACTTCCAAGAGGT	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.986A>G	17.37:g.80443387A>G	ENSP00000309899:p.Gln329Arg	36	0		62	4	NM_012336	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.499326	0.26861	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.40225	1.04;1.04;1.04	5.32	3.09	0.35607	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.162163	0.56097	N	0.000028	T	0.24084	0.0583	N	0.16743	0.435	0.80722	D	1	B;B;B;B	0.27450	0.041;0.127;0.179;0.062	B;B;B;B	0.37451	0.041;0.162;0.25;0.133	T	0.06734	-1.0810	10	0.07990	T	0.79	-23.7705	4.327	0.11045	0.6284:0.0:0.2336:0.138	.	375;281;376;329	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	R	270;376;329;281	ENSP00000374656:Q270R;ENSP00000309899:Q329R;ENSP00000283996:Q281R	ENSP00000309899:Q329R	Q	+	2	0	NARF	78036676	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.722000	0.61958	0.336000	0.23639	0.459000	0.35465	CAA	.		0.418	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		G	80443387	A	G	80443387	3	3	33	1	0	0	0	0	1	0	0	0	10205	130	5	4	1166	4	NARF	17	80443387	Missense_Mutation	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09	2117892	80443387	751823	147	5219											
LAMA1	284217	ucsc.edu	37	18	7037680	7037680	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr18:7037680G>A	ENST00000389658.3	-	12	1727	c.1634C>T	c.(1633-1635)gCa>gTa	p.A545V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	545	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)				CCCGCCTAGTGCATCTTGCTG	0.522																																					p.A545V													.	LAMA1	458	0			c.C1634T						.						100	84	89					18																	7037680		2203	4300	6503	SO:0001583	missense	284217	exon12			CCTAGTGCATCTT	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.1634C>T	18.37:g.7037680G>A	ENSP00000374309:p.Ala545Val	27	0		40	4	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	6.350	0.432656	0.12045	.	.	ENSG00000101680	ENST00000389658	T	0.17528	2.27	5.43	-10.8	0.00216	Laminin B type IV (1);	0.820505	0.10972	N	0.613729	T	0.06600	0.0169	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.11182	T	0.66	.	3.0389	0.06132	0.4428:0.0675:0.2607:0.2291	.	545	P25391	LAMA1_HUMAN	V	545	ENSP00000374309:A545V	ENSP00000374309:A545V	A	-	2	0	LAMA1	7027680	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.070000	0.03440	-1.943000	0.01039	-1.036000	0.02392	GCA	.		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7037680	G	A	7037680	3	1	33	1	0	0	0	0	1	0	0	0	8633	1319	46	3	7801	3	LAMA1	18	7037680	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		7037680	71039568	148	5220											
RNF138	51444	hgsc.bcm.edu	37	18	29672848	29672848	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr18:29672848G>T	ENST00000261593.3	+	2	567	c.109G>T	c.(109-111)Gtt>Ttt	p.V37F	RP11-53I6.3_ENST00000582233.1_RNA|RNF138_ENST00000257190.5_Splice_Site_p.V37F|RNF138_ENST00000585103.1_3'UTR|snoU13_ENST00000459168.1_RNA|RP11-53I6.2_ENST00000583184.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	37					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.V37I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTGTCAGCACGTGTGAGTAGA	0.701																																					p.V37F		.											RNF138,colon,carcinoma,0,1	RNF138	0	1	Substitution - Missense(1)	large_intestine(1)	c.G109T						.						33	28	30					18																	29672848		2202	4298	6500	SO:0001630	splice_region_variant	51444	exon1			CAGCACGTGTGAG	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"RING-type (C3HC4) zinc fingers"	17765	protein-coding gene	gene with protein product	"nemo-like kinase associated ring finger protein"		"ring finger protein 138"			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.110+1G>T	18.37:g.29672848G>T		39	0		50	2	NM_198128	B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125986	0.56721	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D;T	0.86366	-2.11;-1.1	4.76	3.89	0.44902	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.241343	0.27379	N	0.019636	D	0.88209	0.6375	L	0.58925	1.835	0.26935	N	0.966385	P;D	0.62365	0.791;0.991	B;P	0.61722	0.146;0.893	T	0.78224	-0.2287	10	0.10902	T	0.67	-21.6844	8.7281	0.34483	0.1019:0.0:0.8981:0.0	.	37;37	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	F	37	ENSP00000261593:V37F;ENSP00000257190:V37F	ENSP00000257190:V37F	V	+	1	0	RNF138	27926846	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.390000	0.44416	1.235000	0.43724	0.561000	0.74099	GTT;GTC	.		0.701	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271	Missense_Mutation	T	29672848	G	T	29672848	5	4	33	1	0	0	0	0	0	0	1	0	13486	1159	40	2	111	2	RNF138	18	29672848	Splice_Site	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	22635168	29672848	48404400	149	5221											
PIK3C3	5289	hgsc.bcm.edu	37	18	39629497	39629497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr18:39629497G>T	ENST00000262039.4	+	21	2277	c.2191G>T	c.(2191-2193)Gga>Tga	p.G731*	PIK3C3_ENST00000593098.1_Nonsense_Mutation_p.G216*|PIK3C3_ENST00000587402.1_Nonsense_Mutation_p.G78*|PIK3C3_ENST00000589056.1_Nonsense_Mutation_p.G78*|PIK3C3_ENST00000398870.3_Nonsense_Mutation_p.G668*	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	731	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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						TACTGCAGCTGGATATTGCGT	0.338										TSP Lung(28;0.18)																											p.G731X	NSCLC(37;552 1060 2683 16430 37914)	.											.	.	.	0			c.G2191T						.						112	104	107					18																	39629497		2203	4300	6503	SO:0001587	stop_gained	5289	exon21			GCAGCTGGATATT	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.2191G>T	18.37:g.39629497G>T	ENSP00000262039:p.Gly731*	78	0		88	4	NM_002647	Q15134	Nonsense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	40	8.491887	0.98834	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	.	.	.	6.08	6.08	0.98989	.	0.047391	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	.	.	.	X	731;668	.	.	G	+	1	0	PIK3C3	37883495	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.443000	0.97568	2.894000	0.99253	0.655000	0.94253	GGA	.		0.338	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		T	39629497	G	T	39629497	4	4	33	1	0	0	0	0	0	1	0	0	11951	1349	47	3	2273	3	PIK3C3	18	39629497	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	9956649	39629497	38447751	150	5222											
MYO5B	4645	hgsc.bcm.edu	37	18	47405423	47405423	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr18:47405423C>G	ENST00000285039.7	-	24	3467	c.3168G>C	c.(3166-3168)atG>atC	p.M1056I	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Missense_Mutation_p.M197I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1056					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)		GTTCTTTCTTCATGAGATTTT	0.453																																					p.M1056I		.											.	.	.	0			c.G3168C						.						79	78	78					18																	47405423		1855	4101	5956	SO:0001583	missense	4645	exon24			TTTCTTCATGAGA	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.3168G>C	18.37:g.47405423C>G	ENSP00000285039:p.Met1056Ile	55	0		60	6	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909898	0.17833	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.16324	2.35;2.35	5.28	4.4	0.53042	.	0.179711	0.50627	N	0.000110	T	0.10551	0.0258	N	0.14661	0.345	0.50039	D	0.999842	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09058	-1.0692	10	0.44086	T	0.13	.	10.8003	0.46485	0.1469:0.7115:0.1416:0.0	.	1056;197	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	I	1056;197	ENSP00000285039:M1056I;ENSP00000315531:M197I	ENSP00000285039:M1056I	M	-	3	0	MYO5B	45659421	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	3.368000	0.52357	1.194000	0.43101	0.563000	0.77884	ATG	.		0.453	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			G	47405423	C	G	47405423	3	3	33	1	0	0	0	0	1	0	0	0	10117	826	29	5	2446	5	MYO5B	18	47405423	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	7775926	47405423	30671825	151	5223	46	2									
MYO5B	4645	hgsc.bcm.edu	37	18	47405425	47405425	+	Missense_Mutation	SNP	T	T	G	rs33910398|rs3841750|rs200219597|rs397841722	byFrequency	TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr18:47405425T>G	ENST00000285039.7	-	24	3465	c.3166A>C	c.(3166-3168)Atg>Ctg	p.M1056L	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Missense_Mutation_p.M197L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1056					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)		TCTTTCTTCATGAGATTTTCC	0.453																																					p.M1056L		.											MYO5B,NS,carcinoma,0,1	MYO5B	0	1	Substitution - Missense(1)	pancreas(1)	c.A3166C						.						78	77	77					18																	47405425		1851	4100	5951	SO:0001583	missense	4645	exon24			TCTTCATGAGATT	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.3166A>C	18.37:g.47405425T>G	ENSP00000285039:p.Met1056Leu	55	0		59	1	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	0.039	-1.291359	0.01375	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.10960	2.82;2.82	5.28	2.82	0.32997	.	0.179711	0.50627	D	0.000110	T	0.04182	0.0116	N	0.11154	0.105	0.45046	D	0.998067	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37820	-0.9689	10	0.02654	T	1	.	7.2702	0.26252	0.1289:0.072:0.0:0.7991	.	1056;197	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	L	1056;197	ENSP00000285039:M1056L;ENSP00000315531:M197L	ENSP00000285039:M1056L	M	-	1	0	MYO5B	45659423	0.911000	0.30947	0.910000	0.35882	0.248000	0.25809	0.029000	0.13666	0.305000	0.22832	-0.376000	0.06991	ATG	.		0.453	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			G	47405425	T	G	47405425	3	3	33	1	0	0	0	0	1	0	0	0	10117	1464	51	4	2448	4	MYO5B	18	47405425	Missense_Mutation	SNP	T	TCGA-ZH-A8Y6-01A-11D-A417-09	2	47405425	30671823	152	5224	46	2									
ZNF516	9658	hgsc.bcm.edu	37	18	74090965	74090965	+	Splice_Site	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr18:74090965C>G	ENST00000443185.2	-	4	3422	c.3105G>C	c.(3103-3105)gcG>gcC	p.A1035A	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1035					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)		GACGGGGGGGCGCCCCAGCCA	0.667																																					p.A1035A		.											.	.	.	0			c.G3105C						.						28	33	32					18																	74090965		1903	4088	5991	SO:0001630	splice_region_variant	9658	exon4			GGGGGGCGCCCCA	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.3105+1G>C	18.37:g.74090965C>G		47	0		48	5	NM_014643		Silent	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	c	0	-226.479313	0.00000	.	.	ENSG00000101493	ENST00000443185	.	.	.	2.98	-1.95	0.07548	.	.	.	.	.	.	.	.	N	0.14661	0.345	0.20074	N	0.999936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5201	0.00610	0.3591:0.1891:0.2525:0.1993	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF516	72219953	0.523000	0.26274	0.000000	0.03702	0.064000	0.16182	1.183000	0.32041	-0.202000	0.10268	-0.436000	0.05848	.	.		0.667	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	Silent	G	74090965	C	G	74090965	5	3	33	1	0	0	0	0	0	0	1	0	18008	755	27	5	403	5	ZNF516	18	74090965	Splice_Site	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	26685540	74090965	3986283	153	5225											
STXBP2	6813	broad.mit.edu	37	19	7702047	7702048	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:7702047_7702048delGG	ENST00000221283.5	+	1	43_44	c.12_13delGG	c.(10-15)tcggggfs	p.G5fs	STXBP2_ENST00000414284.2_Frame_Shift_Del_p.G5fs|STXBP2_ENST00000441779.2_Frame_Shift_Del_p.G5fs|CTD-3214H19.4_ENST00000595866.1_Intron|CTD-3214H19.6_ENST00000601797.1_RNA	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	5					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						TGGCGCCCTCGGGGCTGAAGGC	0.767																																					p.4_5del													.	STXBP2	63	0			c.12_13del						.																																			SO:0001589	frameshift_variant	6813	exon1			GCCCTCGGGGCTG	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.12_13delGG	19.37:g.7702049_7702050delGG	ENSP00000221283:p.Gly5fs	6	0		12	8	NM_006949	B4E175|E7EQD5|Q9BU65	Frame_Shift_Del	DEL	ENST00000221283.5	37	CCDS12181.1																																																																																			.		0.767	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		-	7702048	GG	-	7702047	7	5	33	1	0	1	0	1	0	0	0	0	15400	1103	39	0	14	0	STXBP2	19	7702047	Frame_Shift_Del	DEL	GG	TCGA-ZH-A8Y6-01A-11D-A417-09		7702047	51426936	154	5226											
OLFM2	93145	broad.mit.edu	37	19	10047006	10047006	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:10047006delG	ENST00000264833.4	-	1	222	c.37delC	c.(37-39)ctgfs	p.L14fs		NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	14					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GAGCACAGCAGCAGCAGCAGC	0.796																																					p.L13fs													.	OLFM2	42	0			c.37delC						.						1	1	1					19																	10047006		774	1884	2658	SO:0001589	frameshift_variant	93145	exon1			ACAGCAGCAGCAG	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.37delC	19.37:g.10047006delG	ENSP00000264833:p.Leu14fs	7	0		6	2	NM_058164	Q6IMJ3|Q96FC2	Frame_Shift_Del	DEL	ENST00000264833.4	37	CCDS12221.1																																																																																			.		0.796	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			-	10047006	G	-	10047006	7	5	33	1	0	1	0	1	0	0	0	0	10892	962	34	0	1351	0	OLFM2	19	10047006	Frame_Shift_Del	DEL	G	TCGA-ZH-A8Y6-01A-11D-A417-09	2344959	10047006	49081977	155	5227											
TNPO2	30000	hgsc.bcm.edu	37	19	12821525	12821525	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:12821525G>T	ENST00000592287.1	-	12	1288	c.1180C>A	c.(1180-1182)Cac>Aac	p.H394N	TNPO2_ENST00000356861.5_Missense_Mutation_p.H394N|TNPO2_ENST00000441499.1_Missense_Mutation_p.H394N|TNPO2_ENST00000450764.2_Missense_Mutation_p.H394N|TNPO2_ENST00000589956.1_5'Flank|TNPO2_ENST00000588216.1_Missense_Mutation_p.H394N|TNPO2_ENST00000425528.1_Missense_Mutation_p.H394N	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	394					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						GGGAGTAGGTGGGGCAGCAGT	0.652																																					p.H394N		.											.	.	.	0			c.C1180A						.						47	53	51					19																	12821525		2098	4206	6304	SO:0001583	missense	30000	exon12			GTAGGTGGGGCAG	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.1180C>A	19.37:g.12821525G>T	ENSP00000468434:p.His394Asn	67	0		85	4	NM_013433	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822448	0.50739	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.16656	0.425	0.58432	D	0.999999	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.35724	-0.9777	10	0.27082	T	0.32	-11.3387	17.4592	0.87615	0.0:0.0:1.0:0.0	.	558;394	Q4LE60;O14787	.;TNPO2_HUMAN	N	558;394;394;394;394;394;394	ENSP00000407182:H394N;ENSP00000389648:H394N;ENSP00000397379:H394N;ENSP00000349321:H394N	ENSP00000349321:H394N	H	-	1	0	TNPO2	12682525	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.406000	0.81754	0.561000	0.74099	CAC	.		0.652	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12821525	G	T	12821525	3	4	33	1	0	0	0	0	1	0	0	0	16383	1348	47	3	1565	3	TNPO2	19	12821525	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	2774519	12821525	46307458	156	5228											
PODNL1	79883	hgsc.bcm.edu	37	19	14044766	14044766	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:14044766C>T	ENST00000339560.5	-	7	986	c.713G>A	c.(712-714)cGc>cAc	p.R238H	PODNL1_ENST00000538371.2_Missense_Mutation_p.R236H|PODNL1_ENST00000538517.2_Missense_Mutation_p.R147H|PODNL1_ENST00000254320.3_Missense_Mutation_p.R156H	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	238	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)		p.R238H(1)		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)			TTGAGTCTGGCGGCTCAGGGC	0.592																																					p.R238H		.											PODNL1,colon,carcinoma,0,1	PODNL1	0	1	Substitution - Missense(1)	large_intestine(1)	c.G713A						.						46	45	45					19																	14044766		2203	4300	6503	SO:0001583	missense	79883	exon7			GTCTGGCGGCTCA	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.713G>A	19.37:g.14044766C>T	ENSP00000345175:p.Arg238His	33	0		34	3	NM_024825	B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711549	0.48517	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.57595	0.39;0.39;0.39;1.86	4.59	2.27	0.28462	.	0.161340	0.29286	N	0.012592	T	0.51024	0.1650	N	0.16016	0.355	0.22240	N	0.999266	D;D;B;B	0.76494	0.998;0.999;0.449;0.231	D;D;B;B	0.72338	0.931;0.977;0.119;0.041	T	0.44298	-0.9337	10	0.42905	T	0.14	.	10.1581	0.42836	0.3768:0.6231:0.0:0.0	.	236;156;147;238	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	H	236;147;238;88;156	ENSP00000442553:R236H;ENSP00000440080:R147H;ENSP00000345175:R238H;ENSP00000254320:R156H	ENSP00000254320:R156H	R	-	2	0	PODNL1	13905766	0.947000	0.32204	0.996000	0.52242	0.990000	0.78478	0.757000	0.26433	0.276000	0.22118	0.591000	0.81541	CGC	.		0.592	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		T	14044766	C	T	14044766	3	4	33	1	0	0	0	0	1	0	0	0	12218	768	27	1	833	1	PODNL1	19	14044766	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	1223241	14044766	45084217	157	5229											
NOTCH3	4854	ucsc.edu	37	19	15290252	15290252	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:15290252G>T	ENST00000263388.2	-	21	3458	c.3383C>A	c.(3382-3384)tCc>tAc	p.S1128Y		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1128	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			GCAGGGCTGGGAGGCACACTC	0.607																																					p.S1128Y													.	NOTCH3	340	0			c.C3383A						.						106	90	95					19																	15290252		2203	4300	6503	SO:0001583	missense	4854	exon21			GGCTGGGAGGCAC	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.3383C>A	19.37:g.15290252G>T	ENSP00000263388:p.Ser1128Tyr	38	0		42	4	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299586	0.81136	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.88354	-2.37	4.45	4.45	0.53987	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94545	0.8243	M	0.92077	3.27	0.80722	D	1	D;B	0.56035	0.974;0.356	P;B	0.57371	0.819;0.398	D	0.94949	0.8098	9	0.41790	T	0.15	.	15.8684	0.79084	0.0:0.0:1.0:0.0	.	1079;1128	Q59FL3;Q9UM47	.;NOTC3_HUMAN	Y	1128;1078	ENSP00000263388:S1128Y	ENSP00000263388:S1128Y	S	-	2	0	NOTCH3	15151252	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.298000	0.51818	2.017000	0.59298	0.561000	0.74099	TCC	.		0.607	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15290252	G	T	15290252	3	4	33	1	0	0	0	0	1	0	0	0	10589	1174	41	3	3634	3	NOTCH3	19	15290252	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	1245486	15290252	43838731	158	5230											
ZNF430	80264	hgsc.bcm.edu	37	19	21240049	21240049	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:21240049C>T	ENST00000261560.5	+	5	1116	c.935C>T	c.(934-936)aCt>aTt	p.T312I	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	312					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGAATTCATACTGGAGAGAAA	0.403																																					p.T312I		.											.	.	.	0			c.C935T						.						56	60	58					19																	21240049		2200	4298	6498	SO:0001583	missense	80264	exon5			TTCATACTGGAGA	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.935C>T	19.37:g.21240049C>T	ENSP00000261560:p.Thr312Ile	27	0		64	4	NM_025189	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	14.77	2.635118	0.47049	.	.	ENSG00000118620	ENST00000261560	T	0.25749	1.78	1.04	-1.9	0.07665	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40719	0.1128	M	0.66560	2.04	0.27024	N	0.964402	D;P	0.89917	1.0;0.599	D;B	0.85130	0.997;0.41	T	0.28554	-1.0040	9	0.72032	D	0.01	.	4.0856	0.09945	0.257:0.4881:0.2549:0.0	.	311;312	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	312	ENSP00000261560:T312I	ENSP00000261560:T312I	T	+	2	0	ZNF430	21031889	0.075000	0.21258	0.917000	0.36280	0.907000	0.53573	0.347000	0.20014	-0.521000	0.06426	-0.519000	0.04390	ACT	.		0.403	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		T	21240049	C	T	21240049	3	4	33	1	0	0	0	0	1	0	0	0	17952	565	20	3	953	3	ZNF430	19	21240049	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	5949797	21240049	37888934	159	5231											
ZNF430	80264	hgsc.bcm.edu	37	19	21240159	21240159	+	Missense_Mutation	SNP	G	G	C	rs371234614		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:21240159G>C	ENST00000261560.5	+	5	1226	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	349					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E349K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAAATGTGAAGAATGTGGCAA	0.393																																					p.E349Q		.											ZNF430,pharynx,carcinoma,0,1	ZNF430	0	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G1045C						.						58	62	61					19																	21240159		2202	4290	6492	SO:0001583	missense	80264	exon5			TGTGAAGAATGTG	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1045G>C	19.37:g.21240159G>C	ENSP00000261560:p.Glu349Gln	49	0		50	2	NM_025189	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	14.07	2.425013	0.43020	.	.	ENSG00000118620	ENST00000261560	T	0.07444	3.19	1.04	-0.843	0.10744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	N	0.11284	0.12	0.09310	N	1	P;D	0.71674	0.811;0.998	P;D	0.67382	0.481;0.951	T	0.37753	-0.9692	9	0.51188	T	0.08	.	7.7376	0.28823	0.0:0.2617:0.7383:0.0	.	348;349	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	Q	349	ENSP00000261560:E349Q	ENSP00000261560:E349Q	E	+	1	0	ZNF430	21031999	0.000000	0.05858	0.492000	0.27490	0.472000	0.32918	-0.010000	0.12743	0.452000	0.26830	0.455000	0.32223	GAA	.		0.393	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		C	21240159	G	C	21240159	3	2	33	1	0	0	0	0	1	0	0	0	17952	943	33	5	1063	5	ZNF430	19	21240159	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	110	21240159	37888824	160	5232											
GPATCH1	55094	hgsc.bcm.edu;broad.mit.edu	37	19	33581730	33581730	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:33581730G>T	ENST00000170564.2	+	3	567	c.253G>T	c.(253-255)Gac>Tac	p.D85Y		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	85					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)					GAACAGAGCAGACAAATCTGT	0.418																																					p.D85Y	Pancreas(67;88 1713 4567 18227)	.											.	.	.	0			c.G253T						.						122	103	109					19																	33581730		2203	4300	6503	SO:0001583	missense	55094	exon3			AGAGCAGACAAAT	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.253G>T	19.37:g.33581730G>T	ENSP00000170564:p.Asp85Tyr	71	0		80	4	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721207	0.89205	.	.	ENSG00000076650	ENST00000170564	T	0.13420	2.59	5.95	5.95	0.96441	Domain of unknown function DUF1604 (1);	0.201929	0.51477	D	0.000081	T	0.36496	0.0969	M	0.64404	1.975	0.80722	D	1	D	0.55385	0.971	D	0.65323	0.934	T	0.00989	-1.1489	10	0.72032	D	0.01	-15.6781	19.3848	0.94553	0.0:0.0:1.0:0.0	.	85	Q9BRR8	GPTC1_HUMAN	Y	85	ENSP00000170564:D85Y	ENSP00000170564:D85Y	D	+	1	0	GPATCH1	38273570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.822000	0.92013	2.829000	0.97493	0.655000	0.94253	GAC	.		0.418	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		T	33581730	G	T	33581730	3	4	33	1	0	0	0	0	1	0	0	0	6616	942	33	3	263	3	GPATCH1	19	33581730	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	12341571	33581730	25547253	161	5233											
SPTBN4	57731	hgsc.bcm.edu	37	19	40993696	40993696	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:40993696G>T	ENST00000352632.3	+	3	348	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D88Y|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D88Y|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D88Y|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D88Y			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	88	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			CCTCTATGTGGACCTCCGGGA	0.662																																					p.D88Y		.											.	.	.	0			c.G262T						.						39	40	39					19																	40993696		2203	4300	6503	SO:0001583	missense	57731	exon3			TATGTGGACCTCC	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.262G>T	19.37:g.40993696G>T	ENSP00000263373:p.Asp88Tyr	89	0		88	4	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644898	0.87859	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.70045	-0.45;-0.45;-0.45	4.28	4.28	0.50868	Calponin homology domain (5);	0.000000	0.64402	U	0.000018	D	0.88994	0.6589	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.93538	0.6875	10	0.87932	D	0	.	15.6338	0.76933	0.0:0.0:1.0:0.0	.	88;88	Q9H254;Q71S06	SPTN4_HUMAN;.	Y	88	ENSP00000263373:D88Y;ENSP00000340345:D88Y;ENSP00000340741:D88Y	ENSP00000340345:D88Y	D	+	1	0	SPTBN4	45685536	1.000000	0.71417	0.923000	0.36655	0.986000	0.74619	9.603000	0.98315	2.215000	0.71742	0.591000	0.81541	GAC	.		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	40993696	G	T	40993696	3	4	33	1	0	0	0	0	1	0	0	0	15168	1174	41	3	268	3	SPTBN4	19	40993696	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	7411966	40993696	18135287	162	5234											
EPN1	29924	bcgsc.ca	37	19	56200706	56200706	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr19:56200706C>T	ENST00000270460.6	+	5	958	c.647C>T	c.(646-648)gCc>gTc	p.A216V	EPN1_ENST00000411543.2_Intron|EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000085079.7_Intron	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	216					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTCCAGCTGGCCCTTAGTTTG	0.682																																					p.A216V													.	EPN1	98	0			c.C647T						.						46	45	45					19																	56200706		692	1591	2283	SO:0001583	missense	29924	exon5			AGCTGGCCCTTAG	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.647C>T	19.37:g.56200706C>T	ENSP00000270460:p.Ala216Val	43	0		57	5	NM_001130072	Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598142	0.87055	.	.	ENSG00000063245	ENST00000270460;ENST00000544375	T	0.40476	1.03	4.73	2.49	0.30216	Ubiquitin interacting motif (3);	0.184821	0.45867	D	0.000336	T	0.52629	0.1746	M	0.68317	2.08	0.80722	D	1	B;D	0.55172	0.166;0.97	B;P	0.58660	0.198;0.843	T	0.53704	-0.8401	10	0.56958	D	0.05	.	8.593	0.33699	0.0:0.7552:0.157:0.0879	.	177;216	B4DU91;Q9Y6I3	.;EPN1_HUMAN	V	216;177	ENSP00000270460:A216V	ENSP00000270460:A216V	A	+	2	0	EPN1	60892518	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.590000	0.53979	1.073000	0.40885	0.462000	0.41574	GCC	.		0.682	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		T	56200706	C	T	56200706	3	4	33	1	0	0	0	0	1	0	0	0	5201	739	26	3	1002	3	EPN1	19	56200706	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	15207010	56200706	2928277	163	5235											
SIRPD	128646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	1532442	1532442	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr20:1532442C>G	ENST00000381623.3	-	2	1505	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.E106Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	106	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGAGAGATTTCACGGATGCGG	0.448																																					p.E106Q		.											.	.	.	0			c.G316C						.						152	149	150					20																	1532442		2203	4300	6503	SO:0001583	missense	128646	exon2			AGATTTCACGGAT	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.316G>C	20.37:g.1532442C>G	ENSP00000371036:p.Glu106Gln	82	0		69	32	NM_178460	B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.407353	0.25378	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.64803	-0.12;-0.12	4.03	-0.163	0.13363	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.047140	0.07611	U	0.925406	T	0.52821	0.1758	L	0.40543	1.245	0.09310	N	1	P	0.47841	0.901	B	0.43889	0.435	T	0.47471	-0.9115	10	0.62326	D	0.03	.	6.077	0.19921	0.0:0.5241:0.0:0.4759	.	106	Q9H106	SIRPD_HUMAN	Q	106	ENSP00000371036:E106Q;ENSP00000371034:E106Q	ENSP00000371034:E106Q	E	-	1	0	SIRPD	1480442	0.002000	0.14202	0.003000	0.11579	0.014000	0.08584	-0.818000	0.04467	0.124000	0.18369	0.558000	0.71614	GAA	.		0.448	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		G	1532442	C	G	1532442	3	3	33	1	0	0	0	0	1	0	0	0	14380	835	29	5	289	5	SIRPD	20	1532442	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09		1532442	61493078	164	5236											
MCM8	84515	hgsc.bcm.edu;ucsc.edu	37	20	5974195	5974195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr20:5974195G>T	ENST00000378896.3	+	18	2661	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*	MCM8_ENST00000378883.1_Nonsense_Mutation_p.E715*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.E746*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.E802*	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	762					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						CCTAGATTTTGAGCGATCCCA	0.363																																					p.E762X		.											.	.	.	0			c.G2284T						.						78	82	81					20																	5974195		2203	4300	6503	SO:0001587	stop_gained	84515	exon18			GATTTTGAGCGAT	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.2284G>T	20.37:g.5974195G>T	ENSP00000368174:p.Glu762*	25	0		40	4	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Nonsense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	42	9.714443	0.99245	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	.	.	.	5.82	5.82	0.92795	.	0.259681	0.43747	D	0.000526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.4328	15.5745	0.76365	0.0:0.1371:0.8629:0.0	.	.	.	.	X	762;715;802;746	.	ENSP00000265187:E746X	E	+	1	0	MCM8	5922195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.998000	0.70653	2.745000	0.94114	0.655000	0.94253	GAG	.		0.363	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		T	5974195	G	T	5974195	4	4	33	1	0	0	0	0	0	1	0	0	9431	1291	45	3	2350	3	MCM8	20	5974195	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	4441753	5974195	57051325	165	5237											
RIN2	54453	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	19956130	19956130	+	Silent	SNP	C	C	T	rs368824899		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr20:19956130C>T	ENST00000255006.6	+	8	1757	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	RIN2_ENST00000440354.2_Intron|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	487					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						GCAGCTCCTTCGTGCTGCCCA	0.607																																					p.F536F		.											RIN2_ENST00000255006,NS,carcinoma,0,2	RIN2_ENST00000255006	0	0			c.C1608T						.	C	,	0,4020		0,0,2010	85	96	92		1608,1461	-3.4	0.4	20		92	1,8321		0,1,4160	no	coding-synonymous,coding-synonymous	RIN2	NM_001242581.1,NM_018993.3	,	0,1,6170	TT,TC,CC		0.012,0.0,0.0081	,	536/945,487/896	19956130	1,12341	2010	4161	6171	SO:0001819	synonymous_variant	54453	exon8			CTCCTTCGTGCTG	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.1608C>T	20.37:g.19956130C>T		28	0		47	20	NM_001242581	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	CCDS56182.1																																																																																			.		0.607	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19956130	C	T	19956130	2	4	33	1	0	0	0	0	0	0	0	1	13417	883	31	1		1	RIN2	20	19956130	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	13981935	19956130	43069390	166	5238											
CEP250	11190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	34091510	34091510	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr20:34091510C>T	ENST00000397527.1	+	30	6033	c.5313C>T	c.(5311-5313)ctC>ctT	p.L1771L	CEP250_ENST00000342580.4_Silent_p.L1715L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1771	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)			AGACCAGCCTCCTCCTGTCCC	0.572																																					p.L1771L		.											.	.	.	0			c.C5313T						.						67	68	68					20																	34091510		2203	4300	6503	SO:0001819	synonymous_variant	11190	exon30			CAGCCTCCTCCTG	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.5313C>T	20.37:g.34091510C>T		10	0		10	5	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																			.		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34091510	C	T	34091510	2	4	33	1	0	0	0	0	0	0	0	1	3259	842	30	3		3	CEP250	20	34091510	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	14135380	34091510	28934010	167	5239											
IFT52	51098	broad.mit.edu	37	20	42264632	42264632	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr20:42264632G>A	ENST00000373030.3	+	11	1120	c.990G>A	c.(988-990)ccG>ccA	p.P330P	IFT52_ENST00000373039.4_Silent_p.P330P	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	330					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)			TTGAGACGCCGCTGCCAACCC	0.532																																					p.P330P													.	IFT52	40	0			c.G990A						.						88	82	84					20																	42264632		2203	4300	6503	SO:0001819	synonymous_variant	51098	exon11			GACGCCGCTGCCA	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.990G>A	20.37:g.42264632G>A		31	0		32	3	NM_016004	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	CCDS33470.1																																																																																			.		0.532	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		A	42264632	G	A	42264632	2	1	33	1	0	0	0	0	0	0	0	1	7588	1074	38	1		1	IFT52	20	42264632	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	8173122	42264632	20760888	168	5240											
OGFR	11054	hgsc.bcm.edu	37	20	61444660	61444660	+	Missense_Mutation	SNP	C	C	A	rs61743079		TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr20:61444660C>A	ENST00000290291.6	+	7	1718	c.1693C>A	c.(1693-1695)Cgc>Agc	p.R565S	OGFR_ENST00000370461.1_Missense_Mutation_p.R513S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	565	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)					CCCAGGCCCCCGCCCGGCAGG	0.741																																					p.R565S		.											OGFR,NS,neuroblastoma,0,1	OGFR	0	0			c.C1693A						.						3	6	5					20																	61444660		1281	3014	4295	SO:0001583	missense	11054	exon7			GGCCCCCGCCCGG	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.1693C>A	20.37:g.61444660C>A	ENSP00000290291:p.Arg565Ser	18	1		28	4	NM_007346	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	A	0.130	-1.114132	0.01799	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.54866	0.55;0.55	1.46	-2.91	0.05631	.	.	.	.	.	T	0.23649	0.0572	N	0.14661	0.345	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	0.19031	-1.0318	9	0.11182	T	0.66	.	0.4172	0.00450	0.232:0.1649:0.1659:0.4372	rs61743079	565;548;565	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	S	565;545;400;513	ENSP00000290291:R565S;ENSP00000359491:R513S	ENSP00000290291:R565S	R	+	1	0	OGFR	60915105	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.466000	0.06672	-1.870000	0.01139	-1.293000	0.01348	CGC	0.019		0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			A	61444660	C	A	61444660	3	1	33	1	0	0	0	0	1	0	0	0	10882	652	23	2	1719	2	OGFR	20	61444660	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	19180028	61444660	1580860	169	5241											
XKR3	150165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	17288751	17288751	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr22:17288751G>A	ENST00000331428.5	-	2	315	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	71						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)				TAATAAAGCTGATGGTAAATG	0.358																																					p.I71I		.											.	.	.	0			c.C213T						.						93	85	88					22																	17288751		1837	4081	5918	SO:0001819	synonymous_variant	150165	exon2			AAAGCTGATGGTA	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.213C>T	22.37:g.17288751G>A		75	0		93	32	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	ENST00000331428.5	37	CCDS42975.1																																																																																			.		0.358	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		A	17288751	G	A	17288751	2	1	33	1	0	0	0	0	0	0	0	1	17481	1280	45	3		3	XKR3	22	17288751	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09		17288751	34015815	170	5242											
ASCC2	84164	broad.mit.edu	37	22	30212002	30212002	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr22:30212002A>G	ENST00000397771.2	-	7	779	c.602T>C	c.(601-603)aTc>aCc	p.I201T	ASCC2_ENST00000542393.1_Missense_Mutation_p.I125T|ASCC2_ENST00000307790.3_Missense_Mutation_p.I201T|ASCC2_ENST00000478812.1_5'UTR			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TACCTGAAGGATGGTAGGCAG	0.512																																					p.I201T													.	ASCC2	53	0			c.T602C						.						126	105	112					22																	30212002		2203	4300	6503	SO:0001583	missense	84164	exon6			TGAAGGATGGTAG	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.602T>C	22.37:g.30212002A>G	ENSP00000380877:p.Ile201Thr	59	0		74	3	NM_032204	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373588	0.61624	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000431535	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.73	5.73	0.89815	.	0.189923	0.48767	D	0.000161	T	0.31888	0.0811	L	0.43152	1.355	0.48975	D	0.999734	B;B	0.21688	0.046;0.059	B;B	0.29862	0.108;0.05	T	0.06463	-1.0825	10	0.46703	T	0.11	-21.1305	15.2025	0.73150	1.0:0.0:0.0:0.0	.	125;201	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	T	201;201;125;201	ENSP00000305502:I201T;ENSP00000380877:I201T;ENSP00000437570:I125T;ENSP00000412382:I201T	ENSP00000305502:I201T	I	-	2	0	ASCC2	28542002	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.698000	0.91311	2.185000	0.69588	0.460000	0.39030	ATC	.		0.512	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		G	30212002	A	G	30212002	3	3	33	1	0	0	0	0	1	0	0	0	1033	333	12	4	1731	4	ASCC2	22	30212002	Missense_Mutation	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09	12923251	30212002	21092564	171	5243											
HORMAD2	150280	hgsc.bcm.edu	37	22	30518061	30518061	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr22:30518061G>T	ENST00000336726.6	+	10	1032	c.677G>T	c.(676-678)gGc>gTc	p.G226V	HORMAD2_ENST00000403975.1_Missense_Mutation_p.G226V	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	226	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GTCTCCACTGGCTTTCATAGC	0.438																																					p.G226V		.											HORMAD2,colon,carcinoma,0,1	HORMAD2	0	0			c.G677T						.						58	54	56					22																	30518061		1880	4113	5993	SO:0001583	missense	150280	exon10			CCACTGGCTTTCA	AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.677G>T	22.37:g.30518061G>T	ENSP00000336984:p.Gly226Val	51	0		47	2	NM_152510	B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	37	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537900	0.27475	.	.	ENSG00000176635	ENST00000336726;ENST00000403975	T;T	0.36520	1.25;1.25	4.86	2.6	0.31112	DNA-binding HORMA (4);	0.339673	0.31484	N	0.007575	T	0.33352	0.0860	M	0.64567	1.98	0.52501	D	0.999953	P	0.36789	0.57	B	0.37943	0.261	T	0.13818	-1.0495	10	0.44086	T	0.13	-12.6804	8.0812	0.30746	0.2649:0.0:0.7351:0.0	.	226	Q8N7B1	HORM2_HUMAN	V	226	ENSP00000336984:G226V;ENSP00000385055:G226V	ENSP00000336984:G226V	G	+	2	0	HORMAD2	28848061	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.316000	0.43761	1.245000	0.43885	0.591000	0.81541	GGC	.		0.438	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	NM_152510		T	30518061	G	T	30518061	3	4	33	1	0	0	0	0	1	0	0	0	7314	1203	42	3	711	3	HORMAD2	22	30518061	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	306059	30518061	20786505	172	5244											
LDOC1L	84247	hgsc.bcm.edu	37	22	44893393	44893393	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr22:44893393G>T	ENST00000341255.3	-	2	553	c.44C>A	c.(43-45)gCa>gAa	p.A15E		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	15										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGGAGACGCTGCCAAGGCTGG	0.647																																					p.A15E		.											LDOC1L,caecum,carcinoma,0,1	LDOC1L	0	0			c.C44A						.						49	36	40					22																	44893393		2202	4299	6501	SO:0001583	missense	84247	exon2			GACGCTGCCAAGG	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.44C>A	22.37:g.44893393G>T	ENSP00000340434:p.Ala15Glu	32	0		48	2	NM_032287	Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788577	0.70337	.	.	ENSG00000188636	ENST00000341255	T	0.26373	1.74	2.95	1.93	0.25924	.	.	.	.	.	T	0.12092	0.0294	N	0.08118	0	0.09310	N	1	B	0.23591	0.088	B	0.17433	0.018	T	0.20773	-1.0265	9	0.54805	T	0.06	-4.5019	6.0304	0.19677	0.1452:0.0:0.8548:0.0	.	15	Q6ICC9	LDOCL_HUMAN	E	15	ENSP00000340434:A15E	ENSP00000340434:A15E	A	-	2	0	LDOC1L	43272057	0.021000	0.18746	0.002000	0.10522	0.304000	0.27724	1.582000	0.36568	0.819000	0.34492	0.467000	0.42956	GCA	.		0.647	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		T	44893393	G	T	44893393	3	4	33	1	0	0	0	0	1	0	0	0	8738	1319	46	3	679	3	LDOC1L	22	44893393	Missense_Mutation	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	14375332	44893393	6411173	173	5245											
SMC1B	27127	broad.mit.edu	37	22	45795219	45795219	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chr22:45795219A>G	ENST00000357450.4	-	6	868	c.869T>C	c.(868-870)cTt>cCt	p.L290P	SMC1B_ENST00000404354.3_Missense_Mutation_p.L290P	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	290					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)		CTGATTTAAAAGGGTTTCAAC	0.323																																					p.L290P													.	SMC1B	215	0			c.T869C						.						110	94	99					22																	45795219		1808	4064	5872	SO:0001583	missense	27127	exon6			TTTAAAAGGGTTT	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.869T>C	22.37:g.45795219A>G	ENSP00000350036:p.Leu290Pro	74	0		83	3	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811676	0.32053	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79845	-1.31;3.24	5.7	5.7	0.88788	RecF/RecN/SMC (1);	0.682217	0.13035	N	0.418970	T	0.77961	0.4209	L	0.34521	1.04	0.41635	D	0.989045	P;P;B	0.36599	0.502;0.56;0.451	P;B;B	0.46419	0.516;0.3;0.306	T	0.75431	-0.3320	10	0.48119	T	0.1	.	8.0929	0.30811	0.8453:0.0:0.1547:0.0	.	290;290;290	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	P	290	ENSP00000350036:L290P;ENSP00000385902:L290P	ENSP00000350036:L290P	L	-	2	0	SMC1B	44173883	0.809000	0.29036	1.000000	0.80357	0.922000	0.55478	3.841000	0.55850	2.175000	0.68902	0.533000	0.62120	CTT	.		0.323	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		G	45795219	A	G	45795219	3	3	33	1	0	0	0	0	1	0	0	0	14827	72	3	4	2918	4	SMC1B	22	45795219	Missense_Mutation	SNP	A	TCGA-ZH-A8Y6-01A-11D-A417-09	901826	45795219	5509347	174	5246											
MAP3K15	389840	hgsc.bcm.edu	37	X	19378938	19378938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chrX:19378938delA	ENST00000338883.4	-	29	3870	c.3871delT	c.(3871-3873)tgcfs	p.C1291fs	PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.C1123fs|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.C726fs|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1291							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGAGTCTGCAGAGGAGACCA	0.493																																					p.C1291fs		.											.	.	.	0			c.3872delG						.						107	82	90					X																	19378938		2203	4300	6503	SO:0001589	frameshift_variant	389840	exon29			GTCTGCAGAGGAG	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3871delT	X.37:g.19378938delA	ENSP00000345629:p.Cys1291fs	10	3		28	11	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	DEL	ENST00000338883.4	37																																																																																				.		0.493	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		-	19378938	A	-	19378938	7	5	33	1	0	1	0	1	0	0	0	0	9287	188	7	0	74	0	MAP3K15	23	19378938	Frame_Shift_Del	DEL	A	TCGA-ZH-A8Y6-01A-11D-A417-09		19378938	135891622	175	5247											
ESX1	80712	broad.mit.edu	37	X	103495187	103495187	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chrX:103495187C>A	ENST00000372588.4	-	4	1026	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	315	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						ATGGGCGGCCCGGTTGGCACA	0.786																																					p.G315W	Pancreas(200;1705 2227 25194 28471 45274)												.	ESX1	57	0			c.G943T						.						3	4	4					X																	103495187		1182	2667	3849	SO:0001583	missense	80712	exon4			GCGGCCCGGTTGG	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.943G>T	X.37:g.103495187C>A	ENSP00000361669:p.Gly315Trp	11	0		12	3	NM_153448	B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	12.32	1.903780	0.33628	.	.	ENSG00000123576	ENST00000372588	T	0.73469	-0.75	2.92	1.99	0.26369	.	.	.	.	.	T	0.81847	0.4909	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69266	-0.5190	9	0.87932	D	0	.	8.4433	0.32828	0.235:0.765:0.0:0.0	.	315	Q8N693	ESX1_HUMAN	W	315	ENSP00000361669:G315W	ENSP00000361669:G315W	G	-	1	0	ESX1	103381843	0.000000	0.05858	0.013000	0.15412	0.089000	0.18198	-0.357000	0.07651	0.228000	0.21019	0.479000	0.44913	GGG	.		0.786	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		A	103495187	C	A	103495187	3	1	33	1	0	0	0	0	1	0	0	0	5279	652	23	2	281	2	ESX1	23	103495187	Missense_Mutation	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	84116249	103495187	51775373	176	5248											
WDR44	54521	broad.mit.edu	37	X	117480529	117480529	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chrX:117480529C>T	ENST00000254029.3	+	1	458	c.63C>T	c.(61-63)ggC>ggT	p.G21G	WDR44_ENST00000371825.3_Silent_p.G21G|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Silent_p.G21G	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	21	Binding activity.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCTAGGGGGCGGCTACCCCG	0.642																																					p.G21G													.	WDR44	188	0			c.C63T						.						45	43	43					X																	117480529		2203	4300	6503	SO:0001819	synonymous_variant	54521	exon1			AGGGGGCGGCTAC	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.63C>T	X.37:g.117480529C>T		154	0		205	4	NM_001184965	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Silent	SNP	ENST00000254029.3	37	CCDS14572.1																																																																																			.		0.642	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		T	117480529	C	T	117480529	2	4	33	1	0	0	0	0	0	0	0	1	17345	755	27	1		1	WDR44	23	117480529	Silent	SNP	C	TCGA-ZH-A8Y6-01A-11D-A417-09	13985342	117480529	37790031	177	5249											
HMGB3	3149	hgsc.bcm.edu;bcgsc.ca	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y6-01A-11D-A417-09	TCGA-ZH-A8Y6-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	ce462b65-84ae-4dfb-91ec-54f5e6e3b86d	1ccf932f-0579-49a6-88c9-8221b3199710	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																					p.E192E		.											.	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A						.						50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149	exon5			AGAAGAGGAGGAG	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A		37	0		43	4	NM_005342	O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	CCDS35428.1																																																																																			.		0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		A	150156360	G	A	150156360	2	1	33	1	0	0	0	0	0	0	0	1	7254	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-ZH-A8Y6-01A-11D-A417-09	32675831	150156360	5114200	178	5250											
PLCH2	9651	hgsc.bcm.edu	37	1	2430086	2430086	+	Splice_Site	SNP	G	G	C	rs142848828		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:2430086G>C	ENST00000419816.2	+	17	2623	c.2349G>C	c.(2347-2349)gaG>gaC	p.E783D	PLCH2_ENST00000449969.1_Splice_Site_p.E756D|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Splice_Site_p.E747D|PLCH2_ENST00000378486.3_Splice_Site_p.E783D			O75038	PLCH2_HUMAN	phospholipase C, eta 2	783	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)	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		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)		ACCGTGGGGAGGTGGGGGCCA	0.706																																					p.E783D		.											.,6	.	131	2	Insertion - In frame(2)	central_nervous_system(2)	c.G2349C						.						6	6	6					1																	2430086		1812	3983	5795	SO:0001630	splice_region_variant	9651	exon17			TGGGGAGGTGGGG	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.2349+1G>C	1.37:g.2430086G>C		7	1		5	2	NM_014638	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390174|3.390174	0.62066|0.62066	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878|ENST00000419816	T;T;T|.	0.13196|.	2.61;2.61;2.61|.	4.84|4.84	4.84|4.84	0.62591|0.62591	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.286925|.	0.30538|.	N|.	0.009416|.	T|T	0.49133|0.49133	0.1539|0.1539	N|N	0.13371|0.13371	0.34|0.34	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.60160|.	0.929;0.987;0.852;0.964|.	P;D;P;D|.	0.66351|.	0.882;0.943;0.555;0.912|.	T|T	0.45775|0.45775	-0.9238|-0.9238	10|5	0.49607|.	T|.	0.09|.	.|.	16.9045|16.9045	0.86123|0.86123	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	630;535;756;783|.	B9DI81;B9DI82;O75038-2;O75038|.	.;.;.;PLCH2_HUMAN|.	D|T	756;783;747;630;535|78	ENSP00000397289:E756D;ENSP00000367747:E783D;ENSP00000367749:E747D|.	ENSP00000278878:E535D|.	E|R	+|+	3|2	2|0	PLCH2|PLCH2	2419946|2419946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.147000|0.147000	0.21601|0.21601	5.417000|5.417000	0.66423|0.66423	2.224000|2.224000	0.72417|0.72417	0.561000|0.561000	0.74099|0.74099	GAG|AGA	.		0.706	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638	Missense_Mutation	C	2430086	G	C	2430086	5	2	34	1	0	0	0	0	0	0	1	0	12077	1014	35	5	2415	5	PLCH2	1	2430086	Splice_Site	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		2430086	246820535	1	5251											
KIF1B	23095	hgsc.bcm.edu;bcgsc.ca	37	1	10351202	10351202	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:10351202G>T	ENST00000377086.1	+	16	1699	c.1497G>T	c.(1495-1497)gaG>gaT	p.E499D	KIF1B_ENST00000377081.1_Missense_Mutation_p.E499D|KIF1B_ENST00000377083.1_Missense_Mutation_p.E453D|KIF1B_ENST00000263934.6_Missense_Mutation_p.E453D|KIF1B_ENST00000377093.4_Missense_Mutation_p.E453D			O60333	KIF1B_HUMAN	kinesin family member 1B	499					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)		GTAAAACAGAGGCCATCAGAA	0.383																																					p.E453D		.											.	.	.	0			c.G1359T						.						78	81	80					1																	10351202		2203	4300	6503	SO:0001583	missense	23095	exon14			AACAGAGGCCATC	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.1497G>T	1.37:g.10351202G>T	ENSP00000366290:p.Glu499Asp	97	0		85	4	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.080934	0.76528	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.77489	-0.96;-1.03;-1.09;-1.03;-1.1	5.17	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.84826	0.5558	M	0.71920	2.185	0.58432	D	0.999997	P;P;D;D;D;D;D	0.76494	0.942;0.887;0.997;0.997;0.999;0.974;0.969	P;P;D;D;D;D;P	0.79784	0.656;0.562;0.937;0.952;0.993;0.969;0.868	T	0.83243	-0.0057	10	0.56958	D	0.05	.	10.3508	0.43934	0.2063:0.0:0.7937:0.0	.	485;459;499;473;499;453;453	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	D	499;453;453;499;453;499	ENSP00000263934:E453D;ENSP00000366297:E453D;ENSP00000366290:E499D;ENSP00000366287:E453D;ENSP00000366284:E499D	ENSP00000263934:E453D	E	+	3	2	KIF1B	10273789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.688000	0.25422	0.291000	0.22468	0.655000	0.94253	GAG	.		0.383	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10351202	G	T	10351202	3	4	34	1	0	0	0	0	1	0	0	0	8311	991	35	3	1409	3	KIF1B	1	10351202	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	7921116	10351202	238899419	2	5252											
PADI2	11240	hgsc.bcm.edu	37	1	17422416	17422416	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:17422416G>T	ENST00000375486.4	-	4	462	c.399C>A	c.(397-399)aaC>aaA	p.N133K	PADI2_ENST00000444885.2_Missense_Mutation_p.N133K|PADI2_ENST00000375481.1_Missense_Mutation_p.N133K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	133					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)	p.N133K(1)		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)	TCTTTGGGTTGTTCTTCTCCA	0.602																																					p.N133K		.											PADI2,NS,carcinoma,0,1	PADI2	0	1	Substitution - Missense(1)	lung(1)	c.C399A						.						218	187	197					1																	17422416		2203	4300	6503	SO:0001583	missense	11240	exon4			TGGGTTGTTCTTC	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.399C>A	1.37:g.17422416G>T	ENSP00000364635:p.Asn133Lys	74	0		27	2	NM_007365	Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535763	0.64972	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.14640	2.49;2.49;2.49	6.08	2.01	0.26516	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.64170	1.965	0.23657	N	0.997186	P;D	0.52996	0.615;0.957	B;P	0.61533	0.1;0.89	T	0.05115	-1.0905	10	0.28530	T	0.3	-57.7554	8.103	0.30868	0.1973:0.1136:0.6891:0.0	.	133;133	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	133	ENSP00000364635:N133K;ENSP00000405894:N133K;ENSP00000364630:N133K	ENSP00000364630:N133K	N	-	3	2	PADI2	17295003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.200000	0.42724	0.425000	0.26087	0.655000	0.94253	AAC	.		0.602	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			T	17422416	G	T	17422416	3	4	34	1	0	0	0	0	1	0	0	0	11417	1368	48	3	1650	3	PADI2	1	17422416	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	7071214	17422416	231828205	3	5253											
TCEB3	6924	bcgsc.ca	37	1	24082492	24082492	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:24082492G>T	ENST00000418390.2	+	8	2300	c.2029G>T	c.(2029-2031)Gca>Tca	p.A677S	TCEB3_ENST00000609199.1_Missense_Mutation_p.A651S	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	677	Activation domain. {ECO:0000250}.				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)		TATCCAGTTCGCACATGCCAA	0.542																																					p.A677S													.	TCEB3	61	0			c.G2029T						.						74	66	69					1																	24082492		2203	4300	6503	SO:0001583	missense	6924	exon8			CAGTTCGCACATG	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.2029G>T	1.37:g.24082492G>T	ENSP00000395574:p.Ala677Ser	45	0		50	4	NM_003198	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	CCDS239.2	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918439	0.73098	.	.	ENSG00000011007	ENST00000418390	T	0.31510	1.49	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000013	T	0.47581	0.1453	L	0.41492	1.28	0.80722	D	1	D	0.58268	0.982	D	0.63957	0.92	T	0.22068	-1.0227	10	0.45353	T	0.12	-13.6305	19.9979	0.97390	0.0:0.0:1.0:0.0	.	677	Q14241	ELOA1_HUMAN	S	677	ENSP00000395574:A677S	ENSP00000395574:A677S	A	+	1	0	TCEB3	23955079	1.000000	0.71417	0.872000	0.34217	0.440000	0.31957	6.627000	0.74258	2.804000	0.96469	0.462000	0.41574	GCA	.		0.542	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		T	24082492	G	T	24082492	3	4	34	1	0	0	0	0	1	0	0	0	15728	1087	38	2	2059	2	TCEB3	1	24082492	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	6660076	24082492	225168129	4	5254											
TMEM69	51249	hgsc.bcm.edu	37	1	46159032	46159032	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:46159032T>C	ENST00000372025.4	+	3	1356	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	67						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTATCATACATCCCCCTGCAG	0.473																																					p.S67P		.											TMEM69,NS,carcinoma,0,1	TMEM69	0	0			c.T199C						.						236	235	236					1																	46159032		1966	4159	6125	SO:0001583	missense	51249	exon3			CATACATCCCCCT	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.199T>C	1.37:g.46159032T>C	ENSP00000361095:p.Ser67Pro	44	0		40	2	NM_016486	Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706014	0.89018	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	L	0.36672	1.1	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.71444	-0.4591	9	0.72032	D	0.01	-13.6235	16.3634	0.83296	0.0:0.0:0.0:1.0	.	67	Q5SWH9	TMM69_HUMAN	P	67	.	ENSP00000361095:S67P	S	+	1	0	TMEM69	45931619	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.457000	0.53007	2.270000	0.75569	0.459000	0.35465	TCC	.		0.473	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		C	46159032	T	C	46159032	3	2	34	1	0	0	0	0	1	0	0	0	16245	1435	50	4	205	4	TMEM69	1	46159032	Missense_Mutation	SNP	T	TCGA-ZH-A8Y8-01A-51D-A417-09	22076540	46159032	203091589	5	5255											
FAM73A	374986	hgsc.bcm.edu	37	1	78272787	78272787	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:78272787G>T	ENST00000370791.3	+	5	669		c.e5+1		FAM73A_ENST00000443751.2_Splice_Site	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A							integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TACTTAATGGGTAGGAATGAG	0.348																																					.		.											FAM73A,NS,carcinoma,0,1	FAM73A	0	0			c.637+1G>T						.						95	102	99					1																	78272787		2203	4300	6503	SO:0001630	splice_region_variant	374986	exon5			TAATGGGTAGGAA		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.637+1G>T	1.37:g.78272787G>T		46	1		50	2	NM_198549	Q6MZG0	Splice_Site	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301148	0.81136	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2924	0.94105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM73A	78045375	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.390000	0.90175	2.650000	0.89964	0.655000	0.94253	.	.		0.348	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549	Intron	T	78272787	G	T	78272787	5	4	34	1	0	0	0	0	0	0	1	0	5639	1275	44	3	656	3	FAM73A	1	78272787	Splice_Site	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	32113755	78272787	170977834	6	5256											
RPF1	80135	hgsc.bcm.edu	37	1	84948633	84948633	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:84948633C>T	ENST00000370654.5	+	3	336	c.321C>T	c.(319-321)aaC>aaT	p.N107N	RPF1_ENST00000370656.1_Silent_p.N107N	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	107					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CCATTGACAACCAGCGAGTGT	0.333																																					p.N107N		.											.	.	.	0			c.C321T						.						109	101	104					1																	84948633		2203	4300	6503	SO:0001819	synonymous_variant	80135	exon3			TGACAACCAGCGA	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.321C>T	1.37:g.84948633C>T		102	0		95	4	NM_025065	Q5VSK7|Q6AHX1|Q8WXZ8	Silent	SNP	ENST00000370654.5	37	CCDS695.1																																																																																			.		0.333	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		T	84948633	C	T	84948633	2	4	34	1	0	0	0	0	0	0	0	1	13591	506	18	3		3	RPF1	1	84948633	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	6675846	84948633	164301988	7	5257											
BRDT	676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	92428423	92428423	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:92428423G>C	ENST00000362005.3	+	3	530	c.112G>C	c.(112-114)Gtt>Ctt	p.V38L	BRDT_ENST00000394530.3_Missense_Mutation_p.V38L|BRDT_ENST00000402388.1_Missense_Mutation_p.V38L|BRDT_ENST00000399546.2_Missense_Mutation_p.V38L|BRDT_ENST00000370389.2_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	38					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)		TCTACAAAAAGTTGTCCTAAA	0.368																																					p.V38L		.											.	.	.	0			c.G112C						.						135	136	135					1																	92428423		2203	4300	6503	SO:0001583	missense	676	exon2			CAAAAAGTTGTCC	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.112G>C	1.37:g.92428423G>C	ENSP00000354568:p.Val38Leu	84	0		109	19	NM_001242806	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633338	0.47049	.	.	ENSG00000137948	ENST00000362005;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000394530;ENST00000440509;ENST00000449584;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000402388	T;T;T;T;T;T;T;T;T;T;T;T	0.40756	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;1.02;2.24;2.24	6.13	5.22	0.72569	Bromodomain (3);	0.094664	0.44688	D	0.000440	T	0.27419	0.0673	L	0.52364	1.645	0.58432	D	0.999994	B;B;B;B	0.33857	0.429;0.429;0.017;0.101	B;B;B;B	0.33960	0.173;0.173;0.047;0.067	T	0.22138	-1.0225	10	0.87932	D	0	-12.2955	15.3595	0.74460	0.0671:0.0:0.9329:0.0	.	38;38;38;38	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	38	ENSP00000354568:V38L;ENSP00000387822:V38L;ENSP00000396351:V38L;ENSP00000378038:V38L;ENSP00000416714:V38L;ENSP00000408625:V38L;ENSP00000400002:V38L;ENSP00000410587:V38L;ENSP00000404969:V38L;ENSP00000414349:V38L;ENSP00000447394:V38L;ENSP00000384051:V38L	ENSP00000354568:V38L	V	+	1	0	BRDT	92201011	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	6.311000	0.72835	1.619000	0.50296	0.644000	0.83932	GTT	.		0.368	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		C	92428423	G	C	92428423	3	2	34	1	0	0	0	0	1	0	0	0	1512	1029	36	5	114	5	BRDT	1	92428423	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	7479790	92428423	156822198	8	5258											
OLFM3	118427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	102290693	102290693	+	Missense_Mutation	SNP	A	A	G			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:102290693A>G	ENST00000338858.5	-	4	540	c.541T>C	c.(541-543)Tct>Cct	p.S181P	OLFM3_ENST00000359814.3_Missense_Mutation_p.S181P|OLFM3_ENST00000536598.1_Missense_Mutation_p.S86P|OLFM3_ENST00000370103.4_Missense_Mutation_p.S161P|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	181					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)		AGGACAGCAGACAGATTCCTT	0.463																																					p.S161P		.											.	.	.	0			c.T481C						.						154	139	144					1																	102290693		2203	4300	6503	SO:0001583	missense	118427	exon4			CAGCAGACAGATT	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.541T>C	1.37:g.102290693A>G	ENSP00000345192:p.Ser181Pro	67	0		69	10	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	A	16.19	3.052357	0.55218	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.89196	-2.47;-2.48;-0.84;0.15	5.91	5.91	0.95273	.	0.051877	0.85682	D	0.000000	D	0.83252	0.5214	M	0.61703	1.905	0.46954	D	0.999266	B;B	0.31100	0.012;0.308	B;B	0.34346	0.041;0.18	D	0.84972	0.0883	10	0.66056	D	0.02	.	11.4291	0.50029	0.8654:0.0:0.0:0.1346	.	161;181	Q5T3V6;Q96PB7	.;NOE3_HUMAN	P	32;161;181;86;181	ENSP00000359121:S161P;ENSP00000345192:S181P;ENSP00000443471:S86P;ENSP00000352867:S181P	ENSP00000345192:S181P	S	-	1	0	OLFM3	102063281	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.043000	0.64208	2.269000	0.75478	0.533000	0.62120	TCT	.		0.463	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			G	102290693	A	G	102290693	3	3	34	1	0	0	0	0	1	0	0	0	10893	275	10	4	907	4	OLFM3	1	102290693	Missense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09	9862270	102290693	146959928	9	5259											
GJA5	2702	hgsc.bcm.edu	37	1	147231066	147231066	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:147231066C>A	ENST00000271348.2	-	2	442	c.281G>T	c.(280-282)gGc>gTc	p.G94V	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.G94V	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	94					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.G94A(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGGCGTGGCCCATGTACAC	0.607																																					p.G94V		.											GJA5,NS,carcinoma,0,1	GJA5	0	1	Substitution - Missense(1)	breast(1)	c.G281T						.						131	113	119					1																	147231066		2203	4300	6503	SO:0001583	missense	2702	exon2			GCGTGGCCCATGT		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.281G>T	1.37:g.147231066C>A	ENSP00000271348:p.Gly94Val	29	0		29	2	NM_005266	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381615	0.82792	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.99070	-5.39;-5.39;-5.39	5.53	4.61	0.57282	Connexin, N-terminal (1);	0.097311	0.64402	D	0.000001	D	0.98839	0.9608	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.99861	1.1083	10	0.87932	D	0	.	15.7517	0.77992	0.1377:0.8623:0.0:0.0	.	94	P36382	CXA5_HUMAN	V	94	ENSP00000271348:G94V;ENSP00000358240:G94V;ENSP00000407645:G94V	ENSP00000271348:G94V	G	-	2	0	GJA5	145697690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.907000	0.63300	1.306000	0.44926	0.563000	0.77884	GGC	.		0.607	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		A	147231066	C	A	147231066	3	1	34	1	0	0	0	0	1	0	0	0	6430	739	26	3	799	3	GJA5	1	147231066	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	44940373	147231066	102019555	10	5260											
TPM3	7170	hgsc.bcm.edu	37	1	154144580	154144580	+	Intron	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:154144580G>A	ENST00000368530.2	-	6	759				TPM3_ENST00000271850.7_Splice_Site_p.S189S|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Splice_Site_p.S127S|TPM3_ENST00000328159.4_Splice_Site_p.S152S|TPM3_ENST00000368531.2_Splice_Site_p.S152S|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368533.3_Splice_Site_p.S152S|TPM3_ENST00000341485.5_Splice_Site_p.S136S|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTCGGCAACGGCTGTTAGTGA	0.473			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																p.S152S		.		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"E, L"	.	.	.	0			c.C456T						.						165	157	160					1																	154144580		2203	4300	6503	SO:0001627	intron_variant	7170	exon5			GCAACGGCTGTTA	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"Tropomyosins"	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.567-616C>T	1.37:g.154144580G>A		61	0		58	3	NM_001043352	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	ENST00000368530.2	37	CCDS41403.1																																																																																			.		0.473	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		A	154144580	G	A	154144580	1	1	34	0	1	0	0	0	0	0	0	0	16455	1217	42	3		3	TPM3	1	154144580	Intron	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	6913514	154144580	95106041	11	5261											
CD5L	922	hgsc.bcm.edu	37	1	157803043	157803043	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:157803043C>A	ENST00000368174.4	-	5	1074	c.978G>T	c.(976-978)caG>caT	p.Q326H	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	326	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				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)			AAAATCTGTGCTGGCACTGCT	0.567																																					p.Q326H		.											CD5L,NS,carcinoma,-1,1	CD5L	-1	0			c.G978T						.						92	90	91					1																	157803043		2203	4300	6503	SO:0001583	missense	922	exon5			TCTGTGCTGGCAC	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.978G>T	1.37:g.157803043C>A	ENSP00000357156:p.Gln326His	19	0		37	2	NM_005894	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205419	0.39003	.	.	ENSG00000073754	ENST00000368174	T	0.35236	1.32	5.06	1.98	0.26296	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.415450	0.04339	N	0.353667	T	0.23532	0.0569	L	0.39692	1.235	0.22787	N	0.998736	D	0.55800	0.973	P	0.54270	0.747	T	0.16867	-1.0388	10	0.23302	T	0.38	.	8.2274	0.31577	0.0:0.7105:0.0:0.2895	.	326	O43866	CD5L_HUMAN	H	326	ENSP00000357156:Q326H	ENSP00000357156:Q326H	Q	-	3	2	CD5L	156069667	0.000000	0.05858	0.714000	0.30535	0.517000	0.34286	-3.904000	0.00338	0.721000	0.32231	0.655000	0.94253	CAG	.		0.567	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		A	157803043	C	A	157803043	3	1	34	1	0	0	0	0	1	0	0	0	3034	796	28	3	73	3	CD5L	1	157803043	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	3658463	157803043	91447578	12	5262											
IFI16	3428	hgsc.bcm.edu	37	1	158985757	158985757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:158985757G>T	ENST00000295809.7	+	3	616	c.361G>T	c.(361-363)Gag>Tag	p.E121*	IFI16_ENST00000340979.6_Nonsense_Mutation_p.E121*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.E121*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.E121*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.E125*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.E121*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.E121*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	121	Lys-rich.				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)					TGAAGGAGCAGAGGCAACTCC	0.522																																					p.E121X		.											IFI16,bladder,carcinoma,0,1	IFI16	0	0			c.G361T						.						71	64	67					1																	158985757		2203	4300	6503	SO:0001587	stop_gained	3428	exon3			GGAGCAGAGGCAA	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.361G>T	1.37:g.158985757G>T	ENSP00000295809:p.Glu121*	23	0		36	2	NM_001206567	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	ENST00000295809.7	37		.	.	.	.	.	.	.	.	.	.	.	20.2	3.942070	0.73557	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.	.	.	2.09	-1.44	0.08856	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	2.7474	0.05271	0.3668:0.2513:0.3819:0.0	.	.	.	.	X	121;121;121;121;121;121;121;125	.	ENSP00000295809:E121X	E	+	1	0	IFI16	157252381	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-2.051000	0.01402	-0.367000	0.08052	0.462000	0.41574	GAG	.		0.522	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		T	158985757	G	T	158985757	4	4	34	1	0	0	0	0	0	1	0	0	7538	943	33	3	367	3	IFI16	1	158985757	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	1182714	158985757	90264864	13	5263											
SLAMF6	114836	hgsc.bcm.edu	37	1	160458958	160458958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:160458958C>A	ENST00000368057.3	-	6	859	c.799G>T	c.(799-801)Gag>Tag	p.E267*	SLAMF6_ENST00000368059.3_Splice_Site|SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.E156*			Q96DU3	SLAF6_HUMAN	SLAM family member 6	267						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)			CTTGCGGACTCTGCTGTTAAC	0.493																																					p.E267X		.											.	.	.	0			c.G799T						.						208	167	181					1																	160458958		2203	4300	6503	SO:0001587	stop_gained	114836	exon6			CGGACTCTGCTGT	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.799G>T	1.37:g.160458958C>A	ENSP00000357036:p.Glu267*	40	0		70	4	NM_001184714	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Nonsense_Mutation	SNP	ENST00000368057.3	37	CCDS53394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.551|6.551	0.469938|0.469938	0.12461|0.12461	.|.	.|.	ENSG00000162739|ENSG00000162739	ENST00000368059|ENST00000368057;ENST00000368055	.|.	.|.	.|.	4.58|4.58	1.57|1.57	0.23409|0.23409	.|.	.|2.497930	.|0.01526	.|N	.|0.018567	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|-4.0E-4	6.1448|6.1448	0.20278|0.20278	0.0:0.523:0.3752:0.1017|0.0:0.523:0.3752:0.1017	.|.	.|.	.|.	.|.	.|X	-1|267;156	.|.	.|.	.|E	-|-	.|1	.|0	SLAMF6|SLAMF6	158725582|158725582	0.034000|0.034000	0.19679|0.19679	0.006000|0.006000	0.13384|0.13384	0.012000|0.012000	0.07955|0.07955	1.437000|1.437000	0.34991|0.34991	0.619000|0.619000	0.30197|0.30197	-0.176000|-0.176000	0.13171|0.13171	.|GAG	.		0.493	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		A	160458958	C	A	160458958	4	1	34	1	0	0	0	0	0	1	0	0	14413	927	32	3	211	3	SLAMF6	1	160458958	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	1473201	160458958	88791663	14	5264											
DUSP12	11266	hgsc.bcm.edu;bcgsc.ca	37	1	161726605	161726605	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:161726605G>T	ENST00000367943.4	+	6	923	c.891G>T	c.(889-891)ttG>ttT	p.L297F		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	297					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGCCAAGTTGGGTTCCTTCA	0.353																																					p.L297F		.											.	.	.	0			c.G891T						.						153	150	151					1																	161726605		2203	4300	6503	SO:0001583	missense	11266	exon6			CAAGTTGGGTTCC	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.891G>T	1.37:g.161726605G>T	ENSP00000356920:p.Leu297Phe	49	0		62	4	NM_007240	Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701242	0.88924	.	.	ENSG00000081721	ENST00000367943	T	0.08807	3.05	5.72	5.72	0.89469	.	0.080670	0.51477	D	0.000091	T	0.31575	0.0801	M	0.91972	3.26	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.29971	-0.9994	9	0.87932	D	0	.	17.3878	0.87421	0.0:0.0:1.0:0.0	.	297	Q9UNI6	DUS12_HUMAN	F	297	ENSP00000356920:L297F	ENSP00000356920:L297F	L	+	3	2	DUSP12	159993229	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.444000	0.73452	2.695000	0.91970	0.655000	0.94253	TTG	.		0.353	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		T	161726605	G	T	161726605	3	4	34	1	0	0	0	0	1	0	0	0	4826	1339	47	3	913	3	DUSP12	1	161726605	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	1267647	161726605	87524016	15	5265											
ADCY10	55811	hgsc.bcm.edu;bcgsc.ca	37	1	167779005	167779005	+	Missense_Mutation	SNP	C	C	A	rs267598153		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:167779005C>A	ENST00000367851.4	-	33	4927	c.4743G>T	c.(4741-4743)tgG>tgT	p.W1581C	ADCY10_ENST00000367848.1_Missense_Mutation_p.W1489C|ADCY10_ENST00000545172.1_Missense_Mutation_p.W1428C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1581					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						CAATTTTTTCCCATGATGGGA	0.388																																					p.W1581C		.											.	.	.	0			c.G4743T						.						134	126	129					1																	167779005		2203	4300	6503	SO:0001583	missense	55811	exon33			TTTTTCCCATGAT	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.4743G>T	1.37:g.167779005C>A	ENSP00000356825:p.Trp1581Cys	62	0		74	4	NM_018417	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425151	0.43020	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.61158	0.13;0.18;0.16	5.54	5.54	0.83059	.	0.000000	0.51477	D	0.000096	T	0.68860	0.3047	M	0.65975	2.015	0.36087	D	0.843187	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.72734	-0.4204	9	0.72032	D	0.01	-12.7663	14.9801	0.71306	0.0:1.0:0.0:0.0	.	1489;1581	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1428;1581;1489	ENSP00000441992:W1428C;ENSP00000356825:W1581C;ENSP00000356822:W1489C	ENSP00000356822:W1489C	W	-	3	0	ADCY10	166045629	1.000000	0.71417	0.992000	0.48379	0.106000	0.19336	3.618000	0.54188	2.606000	0.88127	0.655000	0.94253	TGG	.		0.388	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		A	167779005	C	A	167779005	3	1	34	1	0	0	0	0	1	0	0	0	293	624	22	3	93	3	ADCY10	1	167779005	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	6052400	167779005	81471616	16	5266											
HMCN1	83872	hgsc.bcm.edu;bcgsc.ca	37	1	186158652	186158652	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr1:186158652T>C	ENST00000271588.4	+	107	16779	c.16550T>C	c.(16549-16551)cTc>cCc	p.L5517P	HMCN1_ENST00000367492.2_Missense_Mutation_p.L5400P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5517					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						AGGTTCTGCCTCAAGAACTGT	0.428																																					p.L5517P		.											.	.	.	0			c.T16550C						.						96	88	91					1																	186158652		2178	4266	6444	SO:0001583	missense	83872	exon107			TCTGCCTCAAGAA	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.16550T>C	1.37:g.186158652T>C	ENSP00000271588:p.Leu5517Pro	70	0		83	4	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426394	0.83667	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.88124	-2.34;-2.34;-2.34	5.75	5.75	0.90469	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.120124	0.56097	D	0.000023	D	0.90314	0.6970	L	0.54323	1.7	0.58432	D	0.999999	D	0.57899	0.981	P	0.57244	0.816	D	0.90797	0.4691	10	0.56958	D	0.05	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	5517	Q96RW7	HMCN1_HUMAN	P	5517;5400;192	ENSP00000271588:L5517P;ENSP00000356462:L5400P;ENSP00000406205:L192P	ENSP00000271588:L5517P	L	+	2	0	HMCN1	184425275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.959000	0.87885	2.194000	0.70268	0.533000	0.62120	CTC	.		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186158652	T	C	186158652	3	2	34	1	0	0	0	0	1	0	0	0	7247	1551	54	4	16976	4	HMCN1	1	186158652	Missense_Mutation	SNP	T	TCGA-ZH-A8Y8-01A-51D-A417-09	18379647	186158652	63091969	17	5267											
BIRC6	57448	hgsc.bcm.edu	37	2	32774511	32774511	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:32774511C>T	ENST00000421745.2	+	65	13241	c.13107C>T	c.(13105-13107)ctC>ctT	p.L4369L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4369					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.L4341L(1)|p.L4369L(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)					AGTCCTGCCTCATCCCAGCCA	0.418																																					p.L4369L	Pancreas(94;175 1509 16028 18060 45422)	.											BIRC6_ENST00000421745,NS,carcinoma,0,2	BIRC6_ENST00000421745	0	2	Substitution - coding silent(2)	lung(2)	c.C13107T						.						130	121	124					2																	32774511		2203	4300	6503	SO:0001819	synonymous_variant	57448	exon65			CTGCCTCATCCCA	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.13107C>T	2.37:g.32774511C>T		51	0		47	2	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																			.		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32774511	C	T	32774511	2	4	34	1	0	0	0	0	0	0	0	1	1440	813	29	3		3	BIRC6	2	32774511	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09		32774511	210424862	18	5268											
KIAA1841	84542	hgsc.bcm.edu	37	2	61319611	61319611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:61319611G>A	ENST00000402291.1	+	11	1342	c.1101G>A	c.(1099-1101)tgG>tgA	p.W367*	KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.W367*|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.W367*|KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.W367*	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	367								p.W367C(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAAGACATGGGATGTTCATG	0.318																																					p.W367X		.											KIAA1841_ENST00000402291,NS,carcinoma,0,4	KIAA1841_ENST00000402291	0	2	Substitution - Missense(2)	lung(2)	c.G1101A						.						88	94	92					2																	61319611		2203	4300	6503	SO:0001587	stop_gained	84542	exon11			GACATGGGATGTT	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1101G>A	2.37:g.61319611G>A	ENSP00000385579:p.Trp367*	63	0		40	2	NM_032506	Q49AF0|Q6ZND0|Q96JI6	Nonsense_Mutation	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	37	6.004216	0.97195	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1003	19.5405	0.95272	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000295031:W367X	W	+	3	0	KIAA1841	61173115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.698000	0.98700	2.608000	0.88229	0.555000	0.69702	TGG	.		0.318	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		A	61319611	G	A	61319611	4	1	34	1	0	0	0	0	0	1	0	0	8288	1241	43	3	1135	3	KIAA1841	2	61319611	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	28545100	61319611	181879762	19	5269											
CEP68	23177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	65305018	65305018	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:65305018T>C	ENST00000377990.2	+	5	2227	c.2024T>C	c.(2023-2025)aTa>aCa	p.I675T	CEP68_ENST00000260569.4_Missense_Mutation_p.I538T|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	675					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						AAGAAAGATATAGATGAACAT	0.408																																					p.I675T		.											.	.	.	0			c.T2024C						.						76	78	78					2																	65305018		2203	4300	6503	SO:0001583	missense	23177	exon5			AAGATATAGATGA	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.2024T>C	2.37:g.65305018T>C	ENSP00000367229:p.Ile675Thr	83	0		83	22	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310465	0.60414	.	.	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.56444	0.46;0.46	5.86	5.86	0.93980	.	0.228496	0.37348	N	0.002137	T	0.62344	0.2420	L	0.59436	1.845	0.80722	D	1	D;D	0.56746	0.977;0.96	P;P	0.53593	0.73;0.643	T	0.66011	-0.6029	10	0.72032	D	0.01	-1.3675	14.8316	0.70153	0.0:0.0:0.0:1.0	.	675;538	Q76N32;Q76N32-2	CEP68_HUMAN;.	T	675;538	ENSP00000367229:I675T;ENSP00000260569:I538T	ENSP00000260569:I538T	I	+	2	0	CEP68	65158522	0.984000	0.35163	0.269000	0.24586	0.850000	0.48378	5.457000	0.66672	2.237000	0.73441	0.460000	0.39030	ATA	.		0.408	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		C	65305018	T	C	65305018	3	2	34	1	0	0	0	0	1	0	0	0	3265	1406	49	4	2038	4	CEP68	2	65305018	Missense_Mutation	SNP	T	TCGA-ZH-A8Y8-01A-51D-A417-09	3985407	65305018	177894355	20	5270											
ZNF638	27332	hgsc.bcm.edu	37	2	71650945	71650945	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:71650945C>A	ENST00000409544.1	+	22	4931	c.4301C>A	c.(4300-4302)gCc>gAc	p.A1434D	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.A374D|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1434D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1434					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)	p.A1434G(1)		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						AAACTTTCAGCCAAGGAATTT	0.418																																					p.A1434D		.											ZNF638,NS,carcinoma,0,1	ZNF638	0	1	Substitution - Missense(1)	lung(1)	c.C4301A						.						50	53	52					2																	71650945		2203	4300	6503	SO:0001583	missense	27332	exon22			TTTCAGCCAAGGA	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.4301C>A	2.37:g.71650945C>A	ENSP00000386433:p.Ala1434Asp	23	0		32	2	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216325	0.58452	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.36340	1.26;1.26;1.65	5.66	4.78	0.61160	.	0.644139	0.14537	N	0.313530	T	0.29524	0.0736	L	0.29908	0.895	0.80722	D	1	P;B;P	0.46706	0.718;0.033;0.883	B;B;P	0.46629	0.221;0.025;0.522	T	0.01940	-1.1243	10	0.17369	T	0.5	2.0252	8.1088	0.30903	0.0:0.7559:0.1592:0.0848	.	1434;1434;1434	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	D	1434;1434;374;374	ENSP00000264447:A1434D;ENSP00000386433:A1434D;ENSP00000386813:A374D	ENSP00000264447:A1434D	A	+	2	0	ZNF638	71504453	0.849000	0.29639	1.000000	0.80357	0.955000	0.61496	2.122000	0.41987	1.383000	0.46405	0.563000	0.77884	GCC	.		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71650945	C	A	71650945	3	1	34	1	0	0	0	0	1	0	0	0	18103	739	26	3	4383	3	ZNF638	2	71650945	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	6345927	71650945	171548428	21	5271											
CIAO1	55654	hgsc.bcm.edu	37	2	96933103	96933103	+	5'Flank	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:96933103C>A	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Missense_Mutation_p.R62S	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						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)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						AGGCCACCAGCGCACCGTGCG	0.572																																					p.R62S		.											.	.	.	0			c.C184A						.						124	119	121					2																	96933103		2203	4300	6503	SO:0001631	upstream_gene_variant	9391	exon2			CACCAGCGCACCG	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		2.37:g.96933103C>A	Exception_encountered	35	0		28	4	NM_004804	D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794889	0.90453	.	.	ENSG00000144021	ENST00000488633	T	0.56941	0.43	4.56	4.56	0.56223	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	0.54951	0.1890	L	0.37630	1.12	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.45308	-0.9270	10	0.10111	T	0.7	-20.7939	14.8698	0.70448	0.0:1.0:0.0:0.0	.	62	O76071	CIAO1_HUMAN	S	62	ENSP00000418287:R62S	ENSP00000418287:R62S	R	+	1	0	CIAO1	96296830	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.539000	0.53604	2.363000	0.80096	0.561000	0.74099	CGC	.		0.572	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		A	96933103	C	A	96933103	1	1	34	0	1	0	0	0	0	0	0	0	3425	768	27	2		2	CIAO1	2	96933103	5'Flank	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	25282158	96933103	146266270	22	5272											
ZC3H8	84524	bcgsc.ca	37	2	112991747	112991747	+	Missense_Mutation	SNP	G	G	T	rs371803574		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:112991747G>T	ENST00000409573.2	-	5	700	c.571C>A	c.(571-573)Cgc>Agc	p.R191S	ZC3H8_ENST00000476902.1_5'Flank|ZC3H8_ENST00000272570.5_Missense_Mutation_p.R191S			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	191					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						TTTCCCTTGCGTTCCACTGTA	0.303																																					p.R191S													ZC3H8,NS,carcinoma,0,1	ZC3H8	17	0			c.C571A						.						98	88	91					2																	112991747		1846	4095	5941	SO:0001583	missense	84524	exon5			CCTTGCGTTCCAC	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"Zinc fingers, CCCH-type domain containing"	30941	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 8"	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.571C>A	2.37:g.112991747G>T	ENSP00000386488:p.Arg191Ser	60	0		66	4	NM_032494	Q9BZ75	Missense_Mutation	SNP	ENST00000409573.2	37	CCDS46392.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855627	0.71834	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.28895	1.59;1.59	5.04	4.11	0.48088	Zinc finger, CCCH-type (1);	0.371511	0.27645	N	0.018459	T	0.28665	0.0710	L	0.60455	1.87	0.32338	N	0.560092	P	0.37276	0.589	B	0.34038	0.174	T	0.41324	-0.9515	10	0.35671	T	0.21	-5.2812	12.6072	0.56529	0.0861:0.0:0.9139:0.0	.	191	Q8N5P1	ZC3H8_HUMAN	S	191	ENSP00000386488:R191S;ENSP00000272570:R191S	ENSP00000272570:R191S	R	-	1	0	ZC3H8	112708218	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	5.738000	0.68613	1.392000	0.46585	-0.345000	0.07892	CGC	.		0.303	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494		T	112991747	G	T	112991747	3	4	34	1	0	0	0	0	1	0	0	0	17622	1145	40	2	320	2	ZC3H8	2	112991747	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	16058644	112991747	130207626	23	5273											
NEB	4703	hgsc.bcm.edu	37	2	152426643	152426643	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:152426643G>T	ENST00000172853.10	-	81	12426	c.12279C>A	c.(12277-12279)gaC>gaA	p.D4093E	NEB_ENST00000409198.1_Missense_Mutation_p.D4093E|NEB_ENST00000603639.1_Missense_Mutation_p.D5794E|NEB_ENST00000427231.2_Missense_Mutation_p.D5794E|NEB_ENST00000397345.3_Missense_Mutation_p.D5794E|NEB_ENST00000604864.1_Missense_Mutation_p.D5794E			P20929	NEBU_HUMAN	nebulin	4093					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.D4093D(1)|p.D5794D(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)		CATCGTTCTGGTCGGGCATGC	0.512																																					p.D5794E		.											NEB_ENST00000427231,NS,carcinoma,0,3	NEB_ENST00000427231	0	2	Substitution - coding silent(2)	lung(2)	c.C17382A						.						46	46	46					2																	152426643		2056	4193	6249	SO:0001583	missense	4703	exon109			GTTCTGGTCGGGC	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.12279C>A	2.37:g.152426643G>T	ENSP00000172853:p.Asp4093Glu	38	0		35	2	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	22.7	4.325844	0.81580	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.95	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.91635	0.999;0.989	T	0.25537	-1.0129	10	0.36615	T	0.2	.	13.1282	0.59368	0.1327:0.0:0.8673:0.0	.	4093;524	P20929;Q14215	NEBU_HUMAN;.	E	4093;5794;5794;142;524;4093	ENSP00000386259:D4093E;ENSP00000380505:D5794E;ENSP00000416578:D5794E;ENSP00000410961:D524E;ENSP00000172853:D4093E	ENSP00000172853:D4093E	D	-	3	2	NEB	152134889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.440000	0.35024	1.537000	0.49254	0.563000	0.77884	GAC	.		0.512	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152426643	G	T	152426643	3	4	34	1	0	0	0	0	1	0	0	0	10341	1252	44	3	8600	3	NEB	2	152426643	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	39434896	152426643	90772730	24	5274											
SPATS2L	26010	bcgsc.ca	37	2	201337558	201337558	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:201337558C>G	ENST00000358677.5	+	12	1311	c.1064C>G	c.(1063-1065)aCa>aGa	p.T355R	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000360760.5_Missense_Mutation_p.T286R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.T295R|SPATS2L_ENST00000409140.3_Missense_Mutation_p.T355R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.T385R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.T363R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.T355R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.T355R|SPATS2L_ENST00000409988.3_Missense_Mutation_p.T355R	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	355						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						ATTGCAGTTACACATCCAAAG	0.493																																					p.T355R													.	SPATS2L	88	0			c.C1064G						.						77	82	80					2																	201337558		1992	4175	6167	SO:0001583	missense	26010	exon12			CAGTTACACATCC	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.1064C>G	2.37:g.201337558C>G	ENSP00000351503:p.Thr355Arg	24	0		18	3	NM_001100423	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218737	0.79464	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.39	5.39	0.77823	.	0.184854	0.38720	N	0.001589	T	0.48978	0.1530	N	0.08118	0	0.40900	D	0.984145	P;P;D	0.54772	0.934;0.589;0.968	P;B;P	0.55303	0.773;0.142;0.773	T	0.59904	-0.7366	9	0.87932	D	0	-20.3361	17.5251	0.87798	0.0:1.0:0.0:0.0	.	385;286;355	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	R	355;355;355;295;355;286;355;385;363	.	ENSP00000351503:T355R	T	+	2	0	SPATS2L	201045803	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.867000	0.63013	2.804000	0.96469	0.655000	0.94253	ACA	.		0.493	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		G	201337558	C	G	201337558	3	3	34	1	0	0	0	0	1	0	0	0	15067	478	17	5	1102	5	SPATS2L	2	201337558	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	48910915	201337558	41861815	25	5275											
ALS2CR11	151254	hgsc.bcm.edu	37	2	202359173	202359173	+	Intron	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:202359173G>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000482942.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.L631I|ALS2CR11_ENST00000439802.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ACATTTGGTAGATTTTCTTTT	0.353																																					p.L631I		.											ALS2CR11_ENST00000439140,NS,carcinoma,0,1	ALS2CR11_ENST00000439140	0	0			c.C1891A						.						132	105	113					2																	202359173		692	1591	2283	SO:0001627	intron_variant	151254	exon15			TTGGTAGATTTTC	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+1444C>A	2.37:g.202359173G>T		76	0		47	3	NM_001168221	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648195	0.47258	.	.	ENSG00000155754	ENST00000439140	T	0.58506	0.33	4.98	1.05	0.20165	.	.	.	.	.	T	0.34308	0.0893	N	0.22421	0.69	0.09310	N	1	B	0.32031	0.352	B	0.30105	0.111	T	0.15607	-1.0431	9	0.27082	T	0.32	.	1.735	0.02940	0.1835:0.1747:0.4808:0.161	.	631	E9PGG4	.	I	631	ENSP00000409937:L631I	ENSP00000409937:L631I	L	-	1	2	ALS2CR11	202067418	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.002000	0.13061	0.076000	0.16826	0.650000	0.86243	CTA	.		0.353	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		T	202359173	G	T	202359173	1	4	34	0	1	0	0	0	0	0	0	0	552	933	33	3		3	ALS2CR11	2	202359173	Intron	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	1021615	202359173	40840200	26	5276											
ERBB4	2066	hgsc.bcm.edu	37	2	212566887	212566887	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:212566887G>T	ENST00000342788.4	-	12	1604	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	ERBB4_ENST00000402597.1_Missense_Mutation_p.L432M|ERBB4_ENST00000436443.1_Missense_Mutation_p.L432M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	432					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)	p.L432M(1)		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)	AGCAAGGACAGGCCACTAAGG	0.428										TSP Lung(8;0.080)																											p.L432M		.											ERBB4,caecum,carcinoma,0,1	ERBB4	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1294A						.						97	91	93					2																	212566887		2203	4300	6503	SO:0001583	missense	2066	exon12			AGGACAGGCCACT	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.1294C>A	2.37:g.212566887G>T	ENSP00000342235:p.Leu432Met	52	0		41	2	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055159	0.55325	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.44482	0.92;0.92;0.92	5.71	5.71	0.89125	EGF receptor, L domain (1);	0.052531	0.85682	D	0.000000	T	0.46268	0.1384	L	0.31578	0.945	0.43830	D	0.996408	P;P;P;P;P	0.51240	0.896;0.657;0.943;0.896;0.915	P;P;P;P;P	0.62649	0.846;0.599;0.792;0.846;0.905	T	0.30119	-0.9989	10	0.33141	T	0.24	.	9.0523	0.36383	0.0731:0.0:0.7792:0.1476	.	432;432;291;432;432	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	M	432	ENSP00000342235:L432M;ENSP00000403204:L432M;ENSP00000385565:L432M	ENSP00000342235:L432M	L	-	1	2	ERBB4	212275132	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.881000	0.63114	2.712000	0.92718	0.650000	0.86243	CTG	.		0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		T	212566887	G	T	212566887	3	4	34	1	0	0	0	0	1	0	0	0	5225	991	35	3	2700	3	ERBB4	2	212566887	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	10207714	212566887	30632486	27	5277											
COL4A3	1285	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	228148934	228148934	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:228148934T>C	ENST00000396578.3	+	34	2916	c.2754T>C	c.(2752-2754)ccT>ccC	p.P918P	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	918	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)		TAGGGAGCCCTGGAATTCCAG	0.463																																					p.P918P		.											.	.	.	0			c.T2754C						.						51	57	55					2																	228148934		1834	4083	5917	SO:0001819	synonymous_variant	1285	exon34			GAGCCCTGGAATT		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.2754T>C	2.37:g.228148934T>C		71	0		62	4	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	CCDS42829.1																																																																																			.		0.463	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		C	228148934	T	C	228148934	2	2	34	1	0	0	0	0	0	0	0	1	3698	1567	55	4		4	COL4A3	2	228148934	Silent	SNP	T	TCGA-ZH-A8Y8-01A-51D-A417-09	15582047	228148934	15050439	28	5278											
NGEF	25791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	233756101	233756101	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:233756101G>A	ENST00000264051.3	-	8	1517	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	NGEF_ENST00000373552.4_Silent_p.F321F|NGEF_ENST00000539537.1_Silent_p.F136F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	413	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)		TGATCCTCTGGAAAGGCAGGA	0.632																																					p.F413F		.											.	.	.	0			c.C1239T						.						103	99	101					2																	233756101		2203	4300	6503	SO:0001819	synonymous_variant	25791	exon8			CCTCTGGAAAGGC	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.1239C>T	2.37:g.233756101G>A		33	0		34	8	NM_019850	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	CCDS2500.1																																																																																			.		0.632	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		A	233756101	G	A	233756101	2	1	34	1	0	0	0	0	0	0	0	1	10433	1165	41	3		3	NGEF	2	233756101	Silent	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	5607167	233756101	9443272	29	5279											
COL6A3	1293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	238268788	238268788	+	Silent	SNP	C	C	T	rs368711215		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr2:238268788C>T	ENST00000295550.4	-	17	6677	c.6225G>A	c.(6223-6225)ccG>ccA	p.P2075P	COL6A3_ENST00000353578.4_Silent_p.P1869P|COL6A3_ENST00000347401.3_Silent_p.P1874P|COL6A3_ENST00000409809.1_Silent_p.P1869P|COL6A3_ENST00000346358.4_Silent_p.P1875P|COL6A3_ENST00000472056.1_Silent_p.P1468P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2075	Collagen-like 1.|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)	p.P2075P(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)		TCACACCAGGCGGACCACGCT	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		19799	0		0	False		,,,				2504	0				p.P2075P		.											COL6A3,colon,carcinoma,0,1	COL6A3	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G6225A						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	166	126	139		6225,4404,5607	-10.7	0	2		139	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	2075/3178,1468/2571,1869/2972	238268788	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon17			ACCAGGCGGACCA	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.6225G>A	2.37:g.238268788C>T		35	0		33	6	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			.		0.602	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238268788	C	T	238268788	2	4	34	1	0	0	0	0	0	0	0	1	3708	755	27	1		1	COL6A3	2	238268788	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	4512687	238268788	4930585	30	5280											
RAD54L2	23132	hgsc.bcm.edu	37	3	51624525	51624525	+	Missense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr3:51624525A>T	ENST00000409535.2	+	2	214	c.89A>T	c.(88-90)gAg>gTg	p.E30V		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	30						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.E30V(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		gaggaggaggaggtggcagtg	0.562																																					p.E30V		.											RAD54L2,NS,carcinoma,0,1	RAD54L2	0	1	Substitution - Missense(1)	endometrium(1)	c.A89T						.						321	323	322					3																	51624525		692	1591	2283	SO:0001583	missense	23132	exon2			AGGAGGAGGTGGC	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.89A>T	3.37:g.51624525A>T	ENSP00000386520:p.Glu30Val	59	0		43	3	NM_015106	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235622	0.58886	.	.	ENSG00000164080	ENST00000409535	D	0.94417	-3.42	5.1	3.92	0.45320	.	.	.	.	.	D	0.92420	0.7594	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.92157	0.5733	9	0.59425	D	0.04	-0.4356	10.2076	0.43122	0.8512:0.0:0.0:0.1488	.	30	Q9Y4B4	ARIP4_HUMAN	V	30	ENSP00000386520:E30V	ENSP00000386520:E30V	E	+	2	0	RAD54L2	51599565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.749000	0.62155	0.930000	0.37217	0.533000	0.62120	GAG	.		0.562	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51624525	A	T	51624525	3	4	34	1	0	0	0	0	1	0	0	0	13039	304	11	5	91	5	RAD54L2	3	51624525	Missense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09		51624525	146397905	31	5281											
CCDC66	285331	hgsc.bcm.edu	37	3	56653888	56653888	+	Nonsense_Mutation	SNP	C	C	T	rs374852204		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr3:56653888C>T	ENST00000394672.3	+	17	2789	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	CCDC66_ENST00000326595.7_Nonsense_Mutation_p.R873*|CCDC66_ENST00000436465.2_Nonsense_Mutation_p.R907*	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	907					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)		AAATAGGGATCGACAGCAAGC	0.443																																					p.R907X		.											CCDC66_ENST00000394672,NS,carcinoma,0,2	CCDC66_ENST00000394672	0	0			c.C2719T						.	C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	197	203	201		2617,2719	-0.1	1	3		201	0,8600		0,0,4300	no	stop-gained,stop-gained	CCDC66	NM_001012506.4,NM_001141947.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	873/915,907/949	56653888	1,13005	2203	4300	6503	SO:0001587	stop_gained	285331	exon17			AGGGATCGACAGC	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.2719C>T	3.37:g.56653888C>T	ENSP00000378167:p.Arg907*	43	0		28	2	NM_001141947	B3KWL8|Q4VC34|Q8N949	Nonsense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	C	38	7.029185	0.98013	2.27E-4	0.0	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	.	.	.	5.62	-0.0669	0.13762	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.774	16.0463	0.80724	0.7086:0.2914:0.0:0.0	.	.	.	.	X	907;873;907	.	ENSP00000326050:R873X	R	+	1	2	CCDC66	56628928	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	0.267000	0.18552	0.273000	0.22049	-0.182000	0.12963	CGA	.		0.443	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		T	56653888	C	T	56653888	4	4	34	1	0	0	0	0	0	1	0	0	2845	876	31	1	2785	1	CCDC66	3	56653888	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	5029363	56653888	141368542	32	5282											
PROS1	5627	hgsc.bcm.edu	37	3	93605180	93605180	+	Splice_Site	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr3:93605180C>T	ENST00000394236.3	-	11	1639	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	PROS1_ENST00000407433.1_Splice_Site_p.P310P	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	441	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.P441P(1)		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)	GGATCATTACCGGTTTAATGA	0.373																																					p.P441P		.											PROS1,NS,carcinoma,0,1	PROS1	0	1	Substitution - coding silent(1)	lung(1)	c.G1323A						.						93	98	96					3																	93605180		2203	4300	6503	SO:0001630	splice_region_variant	5627	exon11			CATTACCGGTTTA		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.1323+1G>A	3.37:g.93605180C>T		71	0		35	2	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	CCDS2923.1																																																																																			.		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	Silent	T	93605180	C	T	93605180	5	4	34	1	0	0	0	0	0	0	1	0	12600	666	23	1	727	1	PROS1	3	93605180	Splice_Site	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	36951292	93605180	104417250	33	5283											
KIAA0226	9711	broad.mit.edu	37	3	197403835	197403835	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr3:197403835G>T	ENST00000296343.5	-	18	2566	c.2567C>A	c.(2566-2568)aCt>aAt	p.T856N	KIAA0226_ENST00000389665.5_Missense_Mutation_p.T881N|KIAA0226_ENST00000273582.5_Missense_Mutation_p.T811N|MIR922_ENST00000401223.1_RNA	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	856					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)		CCTGGTCGCAGTCAGGTCATT	0.597																																					p.T856N	Esophageal Squamous(3;167 355 3763 15924)												.	KIAA0226	136	0			c.C2567A						.						71	76	74					3																	197403835		2014	4176	6190	SO:0001583	missense	9711	exon18			GTCGCAGTCAGGT	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.2567C>A	3.37:g.197403835G>T	ENSP00000296343:p.Thr856Asn	48	0		31	3	NM_014687	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.49|11.49|11.49	1.654625|1.654625|1.654625	0.29425|0.29425|0.29425	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665	.|.|.	.|.|.	.|.|.	5.95|5.95|5.95	5.08|5.08|5.08	0.68730|0.68730|0.68730	.|.|.	.|.|0.313409	.|.|0.34932	.|.|N	.|.|0.003569	T|T|T	0.24890|0.24890|0.24890	0.0604|0.0604|0.0604	N|N|N	0.12471|0.12471|0.12471	0.22|0.22|0.22	0.24063|0.24063|0.24063	N|N|N	0.996007|0.996007|0.996007	.|.|B;B;B	.|.|0.17038	.|.|0.02;0.001;0.011	.|.|B;B;B	.|.|0.19666	.|.|0.023;0.008;0.026	T|T|T	0.15407|0.15407|0.15407	-1.0438|-1.0438|-1.0438	5|5|9	.|.|0.24483	.|.|T	.|.|0.36	.|.|.	10.9725|10.9725|10.9725	0.47446|0.47446|0.47446	0.0733:0.1649:0.7618:0.0|0.0733:0.1649:0.7618:0.0|0.0733:0.1649:0.7618:0.0	.|.|.	.|.|881;811;856	.|.|Q92622-3;Q92622-2;Q92622	.|.|.;.;RUBIC_HUMAN	E|M|N	817|640|811;856;881	.|.|.	.|.|ENSP00000273582:T811N	D|L|T	-|-|-	3|1|2	2|2|0	KIAA0226|KIAA0226|KIAA0226	198888232|198888232|198888232	0.946000|0.946000|0.946000	0.32159|0.32159|0.32159	0.771000|0.771000|0.771000	0.31576|0.31576|0.31576	0.886000|0.886000|0.886000	0.51366|0.51366|0.51366	1.524000|1.524000|1.524000	0.35942|0.35942|0.35942	1.527000|1.527000|1.527000	0.49086|0.49086|0.49086	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|CTG|ACT	.		0.597	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		T	197403835	G	T	197403835	3	4	34	1	0	0	0	0	1	0	0	0	8189	1029	36	3	363	3	KIAA0226	3	197403835	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	103798655	197403835	618595	34	5284											
GABRA4	2557	hgsc.bcm.edu	37	4	46930465	46930465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr4:46930465G>T	ENST00000264318.3	-	9	2424	c.1442C>A	c.(1441-1443)tCa>tAa	p.S481*		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	481					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)	CTGCAGTCTTGATCCAAACAC	0.498																																					p.S481X	Ovarian(6;283 369 8234 12290 33402)	.											.	.	.	0			c.C1442A						.						137	127	130					4																	46930465		2203	4300	6503	SO:0001587	stop_gained	2557	exon9			AGTCTTGATCCAA		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.1442C>A	4.37:g.46930465G>T	ENSP00000264318:p.Ser481*	83	0		53	4	NM_000809	Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	43	10.057640	0.99327	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.82	5.82	0.92795	.	16.939900	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2702	0.87099	0.0:0.0:1.0:0.0	.	.	.	.	X	481	.	ENSP00000264318:S481X	S	-	2	0	GABRA4	46625222	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	8.476000	0.90421	2.765000	0.95021	0.650000	0.86243	TCA	.		0.498	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			T	46930465	G	T	46930465	4	4	34	1	0	0	0	0	0	1	0	0	6187	1294	45	3	226	3	GABRA4	4	46930465	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		46930465	144223811	35	5285											
UGT2B15	7366	bcgsc.ca	37	4	69519938	69519938	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr4:69519938C>A	ENST00000338206.5	-	5	1139	c.1130G>T	c.(1129-1131)gGa>gTa	p.G377V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	377					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GCCATTGGTTCCACCATGAGT	0.388																																					p.G377V													.	UGT2B15	48	0			c.G1130T						.						152	154	153					4																	69519938		2203	4296	6499	SO:0001583	missense	7366	exon5			TTGGTTCCACCAT	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1130G>T	4.37:g.69519938C>A	ENSP00000341045:p.Gly377Val	135	0		81	4	NM_001076	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	13.34	2.208739	0.39003	.	.	ENSG00000196620	ENST00000338206	D	0.96459	-4.02	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	D	0.98748	0.9579	H	0.98769	4.325	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.98196	1.0465	10	0.87932	D	0	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	377	P54855	UDB15_HUMAN	V	377	ENSP00000341045:G377V	ENSP00000341045:G377V	G	-	2	0	UGT2B15	69202533	1.000000	0.71417	0.994000	0.49952	0.186000	0.23388	6.940000	0.75917	1.421000	0.47157	0.455000	0.32223	GGA	.		0.388	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		A	69519938	C	A	69519938	3	1	34	1	0	0	0	0	1	0	0	0	17007	855	30	3	2087	3	UGT2B15	4	69519938	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	22589473	69519938	121634338	36	5286											
ANKRD17	26057	hgsc.bcm.edu	37	4	74019647	74019647	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr4:74019647G>T	ENST00000358602.4	-	6	1300	c.1184C>A	c.(1183-1185)aCg>aAg	p.T395K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T395K|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T282K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	395					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)	p.T395M(1)		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)			ATTAGAATGCGTATTAATGCC	0.368																																					p.T395K		.											ANKRD17,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	ANKRD17	0	1	Substitution - Missense(1)	central_nervous_system(1)	c.C1184A						.						115	110	112					4																	74019647		2203	4300	6503	SO:0001583	missense	26057	exon6			GAATGCGTATTAA	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.1184C>A	4.37:g.74019647G>T	ENSP00000351416:p.Thr395Lys	70	0		35	2	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847144	0.91277	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.62105	0.05;0.05;0.05	4.95	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000007	T	0.68641	0.3023	L	0.28608	0.87	0.47183	D	0.999343	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.87578	0.993;0.992;0.998;0.995	T	0.63413	-0.6643	10	0.16896	T	0.51	.	18.1916	0.89808	0.0:0.0:1.0:0.0	.	395;395;395;282	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	395;395;395;282;395	ENSP00000351416:T395K;ENSP00000332265:T395K;ENSP00000427151:T282K	ENSP00000332265:T395K	T	-	2	0	ANKRD17	74238511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.295000	0.77249	0.557000	0.71058	ACG	.		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	74019647	G	T	74019647	3	4	34	1	0	0	0	0	1	0	0	0	646	1145	40	2	6743	2	ANKRD17	4	74019647	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	4499709	74019647	117134629	37	5287											
PIGY	100996939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	89443125	89443125	+	Missense_Mutation	SNP	T	T	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr4:89443125T>C	ENST00000273968.4	-	2	371	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	HERC3_ENST00000601319.1_3'UTR|PIGY_ENST00000527353.1_5'Flank	NM_001042616.2|NM_032906.4	NP_001036081.1|NP_116295.1	Q96I23	PREY_HUMAN	PIGY upstream reading frame	87	TRM112.				GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|mitochondrion (GO:0005739)											CCATCAATGATTGGATAAGCT	0.363																																					p.I87V		.											.	.	.	0			c.A259G						.						195	149	163					4																	89443125		692	1591	2283	SO:0001583	missense	100996939	exon2			CAATGATTGGATA			4q22.1	2012-08-14			ENSG00000145337	ENSG00000145337			44317	protein-coding gene	gene with protein product						16162815	Standard	NM_032906		Approved	PreY	uc003hru.2	Q96I23	OTTHUMG00000130949	ENST00000273968.4:c.259A>G	4.37:g.89443125T>C	ENSP00000273968:p.Ile87Val	50	0		32	12	NM_032906	B2R571	Missense_Mutation	SNP	ENST00000273968.4	37	CCDS3631.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878101	0.51801	.	.	ENSG00000145337	ENST00000273968	.	.	.	4.86	-1.98	0.07480	.	0.157042	0.56097	N	0.000030	T	0.42988	0.1227	L	0.47716	1.5	0.35708	D	0.816176	B	0.25048	0.117	B	0.31812	0.136	T	0.48328	-0.9045	8	0.48119	T	0.1	-13.9776	10.2323	0.43262	0.0:0.3544:0.0:0.6456	.	87	Q96I23	PREY_HUMAN	V	87	.	ENSP00000273968:I87V	I	-	1	0	PIGY	89662148	0.278000	0.24230	0.995000	0.50966	0.956000	0.61745	0.313000	0.19415	-0.180000	0.10637	-0.250000	0.11733	ATC	.		0.363	PYURF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253550.1	NM_032906.4		C	89443125	T	C	89443125	3	2	34	1	0	0	0	0	1	0	0	0	11943	1493	52	4	309	4	PIGY	4	89443125	Missense_Mutation	SNP	T	TCGA-ZH-A8Y8-01A-51D-A417-09	15423478	89443125	101711151	38	5288											
NHEDC2	133308	hgsc.bcm.edu;bcgsc.ca	37	4	103988622	103988622	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr4:103988622G>T	ENST00000394785.3	-	2	717	c.86C>A	c.(85-87)gCa>gAa	p.A29E	SLC9B2_ENST00000362026.3_Missense_Mutation_p.A29E|SLC9B2_ENST00000503230.1_Missense_Mutation_p.A29E|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503103.1_Missense_Mutation_p.A29E|SLC9B2_ENST00000339611.4_Missense_Mutation_p.A29E	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	29					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)										ATTTACCTGTGCTTCTTGATG	0.368																																					p.A29E		.											.	.	.	0			c.C86A						.						259	221	234					4																	103988622		2203	4300	6503	SO:0001583	missense	133308	exon2			ACCTGTGCTTCTT	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.86C>A	4.37:g.103988622G>T	ENSP00000378265:p.Ala29Glu	104	0		74	4	NM_178833	B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213376	0.39102	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.25579	1.91;1.88;1.91;1.79;1.82	3.84	0.0882	0.14454	.	1.031990	0.07719	N	0.943324	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.33292	-0.9874	10	0.06236	T	0.91	-0.0033	0.9302	0.01333	0.2187:0.1799:0.4167:0.1846	.	29;29;29	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	E	29	ENSP00000354574:A29E;ENSP00000345241:A29E;ENSP00000378265:A29E;ENSP00000425385:A29E;ENSP00000422477:A29E	ENSP00000345241:A29E	A	-	2	0	SLC9B2	104208071	0.001000	0.12720	0.001000	0.08648	0.696000	0.40369	0.009000	0.13219	-0.029000	0.13827	0.655000	0.94253	GCA	.		0.368	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		T	103988622	G	T	103988622	3	4	34	1	0	0	0	0	1	0	0	0	10440	1319	46	3	1571	3	NHEDC2	4	103988622	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	14545497	103988622	87165654	39	5289											
LRIT3	345193	hgsc.bcm.edu	37	4	110788871	110788871	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr4:110788871G>A	ENST00000594814.1	+	3	664	c.664G>A	c.(664-666)Gct>Act	p.A222T	LRIT3_ENST00000409621.2_Missense_Mutation_p.A39T|LRIT3_ENST00000379920.3_Missense_Mutation_p.A177T|LRIT3_ENST00000327908.3_Missense_Mutation_p.A39T	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	222	LRRCT.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A39S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CGTTGACCCTGCTATAGTGCT	0.453																																					p.A222T		.											LRIT3,ear,carcinoma,0,1	LRIT3	0	1	Substitution - Missense(1)	skin(1)	c.G664A						.						148	124	132					4																	110788871		2203	4300	6503	SO:0001583	missense	345193	exon3			GACCCTGCTATAG	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.664G>A	4.37:g.110788871G>A	ENSP00000469759:p.Ala222Thr	46	1		34	3	NM_198506	C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	1.845	-0.466434	0.04476	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57595	0.39;0.72;0.39	5.88	-1.37	0.09056	.	0.486130	0.24296	N	0.039780	T	0.21761	0.0524	N	0.11560	0.145	0.09310	N	1	B;B	0.21821	0.007;0.061	B;B	0.18263	0.004;0.021	T	0.06752	-1.0809	10	0.19590	T	0.45	.	1.3567	0.02184	0.4343:0.1005:0.1961:0.2691	.	177;39	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	T	39;177;39	ENSP00000328222:A39T;ENSP00000369252:A177T;ENSP00000386734:A39T	ENSP00000328222:A39T	A	+	1	0	LRIT3	111008320	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.006000	0.12833	-0.158000	0.11040	0.655000	0.94253	GCT	.		0.453	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		A	110788871	G	A	110788871	3	1	34	1	0	0	0	0	1	0	0	0	8984	1319	46	3	535	3	LRIT3	4	110788871	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	6800249	110788871	80365405	40	5290											
TLL1	7092	hgsc.bcm.edu;bcgsc.ca	37	4	166981259	166981259	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr4:166981259G>T	ENST00000061240.2	+	15	2573	c.1926G>T	c.(1924-1926)aaG>aaT	p.K642N	TLL1_ENST00000507499.1_Missense_Mutation_p.K665N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	642	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)		CTCCTAATAAGAACTGTGTGT	0.428																																					p.K642N		.											.	.	.	0			c.G1926T						.						91	89	90					4																	166981259		2203	4300	6503	SO:0001583	missense	7092	exon15			TAATAAGAACTGT	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.1926G>T	4.37:g.166981259G>T	ENSP00000061240:p.Lys642Asn	66	0		51	4	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294295	0.60086	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.28454	1.61;1.61	5.98	1.99	0.26369	CUB (5);	0.000000	0.85682	U	0.000000	T	0.54806	0.1881	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53542	-0.8424	10	0.51188	T	0.08	.	9.8594	0.41105	0.8045:0.0:0.1955:0.0	.	665;642	E9PD25;O43897	.;TLL1_HUMAN	N	642;665	ENSP00000061240:K642N;ENSP00000426082:K665N	ENSP00000061240:K642N	K	+	3	2	TLL1	167200709	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	1.620000	0.36976	0.152000	0.19188	-0.423000	0.05987	AAG	.		0.428	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	166981259	G	T	166981259	3	4	34	1	0	0	0	0	1	0	0	0	15992	933	33	3	1984	3	TLL1	4	166981259	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	56192388	166981259	24173017	41	5291											
SEMA5A	9037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	9063091	9063091	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr5:9063091C>T	ENST00000382496.5	-	18	3091	c.2426G>A	c.(2425-2427)cGt>cAt	p.R809H		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	809	TSP type-1 5. {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						GTTGCAAACACGCTTCCGGTT	0.587																																					p.R809H		.											.	.	.	0			c.G2426A						.						106	84	92					5																	9063091		2203	4300	6503	SO:0001583	missense	9037	exon18			CAAACACGCTTCC	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.2426G>A	5.37:g.9063091C>T	ENSP00000371936:p.Arg809His	47	0		49	10	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	36	5.611877	0.96637	.	.	ENSG00000112902	ENST00000382496	T	0.65364	-0.15	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93001	0.6423	10	0.87932	D	0	.	17.2182	0.86950	0.0:1.0:0.0:0.0	.	809	Q13591	SEM5A_HUMAN	H	809	ENSP00000371936:R809H	ENSP00000371936:R809H	R	-	2	0	SEMA5A	9116091	1.000000	0.71417	0.958000	0.39756	0.990000	0.78478	7.573000	0.82421	2.659000	0.90383	0.655000	0.94253	CGT	.		0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9063091	C	T	9063091	3	4	34	1	0	0	0	0	1	0	0	0	14082	536	19	1	822	1	SEMA5A	5	9063091	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09		9063091	171852169	42	5292											
ZFR	51663	hgsc.bcm.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				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)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																					p.A294A		.											ZFR,NS,carcinoma,0,2	ZFR	0	1	Substitution - coding silent(1)	endometrium(1)	c.T882A						.	A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663	exon6			AGCAGCAGCTGCT	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.882T>A	5.37:g.32407029A>T		22	0		28	2	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC	0.000		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			T	32407029	A	T	32407029	2	4	34	1	0	0	0	0	0	0	0	1	17707	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09	23343938	32407029	148508231	43	5293											
RBM27	54439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	145610369	145610369	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr5:145610369C>G	ENST00000265271.5	+	6	905	c.739C>G	c.(739-741)Cac>Gac	p.H247D	RBM27_ENST00000506502.1_Missense_Mutation_p.H247D	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	247					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)			CGCACCTGCTCACCACTCTGA	0.468																																					p.H247D		.											.	.	.	0			c.C739G						.						137	118	124					5																	145610369		1568	3582	5150	SO:0001583	missense	54439	exon6			CCTGCTCACCACT	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.739C>G	5.37:g.145610369C>G	ENSP00000265271:p.His247Asp	40	0		29	9	NM_018989	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470352	0.63625	.	.	ENSG00000091009	ENST00000265271	T	0.46819	0.86	5.45	5.45	0.79879	.	0.068094	0.64402	D	0.000010	T	0.44435	0.1293	L	0.52573	1.65	0.80722	D	1	B;P	0.36048	0.442;0.534	B;B	0.31869	0.137;0.107	T	0.35943	-0.9768	10	0.33940	T	0.23	-9.2018	19.2991	0.94136	0.0:1.0:0.0:0.0	.	247;247	Q9P2N5;B3KY61	RBM27_HUMAN;.	D	247	ENSP00000265271:H247D	ENSP00000265271:H247D	H	+	1	0	RBM27	145590562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.561000	0.86390	0.563000	0.77884	CAC	.		0.468	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		G	145610369	C	G	145610369	3	3	34	1	0	0	0	0	1	0	0	0	13172	826	29	5	761	5	RBM27	5	145610369	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	113203340	145610369	35304891	44	5294											
ODZ2	57451	hgsc.bcm.edu	37	5	167675132	167675132	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr5:167675132G>T	ENST00000518659.1	+	27	7227	c.7188G>T	c.(7186-7188)gaG>gaT	p.E2396D	TENM2_ENST00000403607.2_Missense_Mutation_p.E2220D|TENM2_ENST00000520394.1_Missense_Mutation_p.E2157D|TENM2_ENST00000545108.1_Missense_Mutation_p.E2395D|TENM2_ENST00000519204.1_Missense_Mutation_p.E2275D	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2396					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)										CCTATGGGGAGATTTATTATG	0.517																																					p.E2387D		.											ODZ2_ENST00000519204,NS,carcinoma,0,3	ODZ2_ENST00000519204	0	0			c.G7161T						.						154	154	154					5																	167675132		1985	4161	6146	SO:0001583	missense	57451	exon27			TGGGGAGATTTAT	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.7188G>T	5.37:g.167675132G>T	ENSP00000429430:p.Glu2396Asp	49	0		42	2	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	14.40	2.524365	0.44969	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.08;-2.07;-2.18;-2.53;-2.55	4.62	4.62	0.57501	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	L	0.38733	1.17	0.47341	D	0.999399	D;D;P	0.69078	0.997;0.995;0.713	D;P;B	0.65773	0.938;0.868;0.36	D	0.85787	0.1365	10	0.22109	T	0.4	.	11.4928	0.50391	0.0828:0.0:0.9172:0.0	.	2395;2396;2157	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	D	2396;2395;2275;2157;2220	ENSP00000429430:E2396D;ENSP00000438635:E2395D;ENSP00000428964:E2275D;ENSP00000427874:E2157D;ENSP00000384905:E2220D	ENSP00000384905:E2220D	E	+	3	2	ODZ2	167607710	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.338000	0.52128	2.556000	0.86216	0.561000	0.74099	GAG	.		0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167675132	G	T	167675132	3	4	34	1	0	0	0	0	1	0	0	0	10874	933	33	3	7267	3	ODZ2	5	167675132	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	22064763	167675132	13240128	45	5295											
EYS	346007	hgsc.bcm.edu	37	6	66005908	66005908	+	Nonsense_Mutation	SNP	G	G	T	rs548565748		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr6:66005908G>T	ENST00000370621.3	-	12	2397	c.1871C>A	c.(1870-1872)tCg>tAg	p.S624*	EYS_ENST00000370616.2_Nonsense_Mutation_p.S624*|EYS_ENST00000503581.1_Nonsense_Mutation_p.S624*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	624					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						ACAATTGTGCGAAAGGGCCAG	0.433																																					p.S624X		.											EYS_ENST00000370621,caecum,carcinoma,0,2	EYS_ENST00000370621	0	0			c.C1871A						.						142	111	120					6																	66005908		692	1591	2283	SO:0001587	stop_gained	346007	exon12			TTGTGCGAAAGGG		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.1871C>A	6.37:g.66005908G>T	ENSP00000359655:p.Ser624*	51	0		21	2	NM_001142800	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	.	16.61	3.171642	0.57584	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.48	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	6.2659	0.20925	0.6132:0.3054:0.0815:0.0	.	.	.	.	X	624	.	ENSP00000359650:S624X	S	-	2	0	EYS	66062629	0.917000	0.31117	0.002000	0.10522	0.007000	0.05969	2.092000	0.41700	0.027000	0.15297	-0.423000	0.05987	TCG	.		0.433	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		T	66005908	G	T	66005908	4	4	34	1	0	0	0	0	0	1	0	0	5348	1059	37	2	7536	2	EYS	6	66005908	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		66005908	105109159	46	5296											
FBXL4	26235	hgsc.bcm.edu	37	6	99323408	99323408	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr6:99323408C>T	ENST00000369244.2	-	9	2013	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	FBXL4_ENST00000229971.1_Missense_Mutation_p.A529T	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	529					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)		AGCTGGTGTGCCAGTCTGGTG	0.493																																					p.A529T		.											FBXL4,colon,carcinoma,0,1	FBXL4	0	0			c.G1585A						.						93	89	90					6																	99323408		2203	4300	6503	SO:0001583	missense	26235	exon8			GGTGTGCCAGTCT	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.1585G>A	6.37:g.99323408C>T	ENSP00000358247:p.Ala529Thr	53	0		40	2	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850162	0.71719	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.03124	4.04;4.04	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.02144	-1.1206	10	0.35671	T	0.21	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	529;529	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	T	529	ENSP00000358247:A529T;ENSP00000229971:A529T	ENSP00000229971:A529T	A	-	1	0	FBXL4	99430129	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.644000	0.67902	2.789000	0.95967	0.591000	0.81541	GCA	.		0.493	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			T	99323408	C	T	99323408	3	4	34	1	0	0	0	0	1	0	0	0	5743	739	26	3	288	3	FBXL4	6	99323408	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	33317500	99323408	71791659	47	5297											
POPDC3	64208	hgsc.bcm.edu	37	6	105609709	105609709	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr6:105609709C>T	ENST00000254765.3	-	2	354	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	26					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.E26K(1)		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)				ATGGCTCCTTCGGCCTCTTGC	0.438																																					p.E26K		.											POPDC3,NS,NS,0,2	POPDC3	0	1	Substitution - Missense(1)	NS(1)	c.G76A						.						86	90	89					6																	105609709		2203	4300	6503	SO:0001583	missense	64208	exon2			CTCCTTCGGCCTC	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.76G>A	6.37:g.105609709C>T	ENSP00000254765:p.Glu26Lys	39	0		36	2	NM_022361	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013678	0.93404	.	.	ENSG00000132429	ENST00000254765	T	0.45668	0.89	5.93	5.93	0.95920	.	0.046631	0.85682	D	0.000000	T	0.48132	0.1483	M	0.78049	2.395	0.58432	D	0.999999	D	0.67145	0.996	P	0.47786	0.557	T	0.55679	-0.8103	10	0.66056	D	0.02	-19.7045	20.3261	0.98701	0.0:1.0:0.0:0.0	.	26	Q9HBV1	POPD3_HUMAN	K	26	ENSP00000254765:E26K	ENSP00000254765:E26K	E	-	1	0	POPDC3	105716402	1.000000	0.71417	0.962000	0.40283	0.979000	0.70002	6.040000	0.70980	2.814000	0.96858	0.655000	0.94253	GAA	.		0.438	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		T	105609709	C	T	105609709	3	4	34	1	0	0	0	0	1	0	0	0	12295	893	31	1	811	1	POPDC3	6	105609709	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	6286301	105609709	65505358	48	5298											
DSE	29940	hgsc.bcm.edu	37	6	116756770	116756770	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr6:116756770C>T	ENST00000331677.3	+	7	1583	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	DSE_ENST00000359564.2_Missense_Mutation_p.S380L|DSE_ENST00000537543.1_Missense_Mutation_p.S399L|DSE_ENST00000452085.3_Missense_Mutation_p.S380L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	380					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)		AGCTTGAAATCGGTTCCTCCT	0.398																																					p.S380L		.											DSE,NS,carcinoma,0,1	DSE	0	0			c.C1139T						.						83	83	83					6																	116756770		2203	4300	6503	SO:0001583	missense	29940	exon6			TGAAATCGGTTCC	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.1139C>T	6.37:g.116756770C>T	ENSP00000332151:p.Ser380Leu	39	0		54	3	NM_001080976	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210325	0.39003	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.99	5.99	0.97316	.	0.229512	0.46442	D	0.000286	T	0.05914	0.0154	N	0.19112	0.55	0.45648	D	0.998577	B;B	0.17268	0.021;0.021	B;B	0.15870	0.014;0.009	T	0.22138	-1.0225	10	0.32370	T	0.25	-10.5375	14.6024	0.68450	0.0:0.931:0.0:0.069	.	399;380	B7Z765;Q9UL01	.;DSE_HUMAN	L	380;399;380;380	ENSP00000404049:S380L;ENSP00000441152:S399L;ENSP00000332151:S380L;ENSP00000352567:S380L	ENSP00000332151:S380L	S	+	2	0	DSE	116863463	0.982000	0.34865	0.997000	0.53966	0.999000	0.98932	4.924000	0.63418	2.840000	0.97914	0.655000	0.94253	TCG	.		0.398	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		T	116756770	C	T	116756770	3	4	34	1	0	0	0	0	1	0	0	0	4788	893	31	1	1157	1	DSE	6	116756770	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	11147061	116756770	54358297	49	5299											
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	157517340	157517340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr6:157517340delC	ENST00000350026.5	+	15	3866	c.3865delC	c.(3865-3867)cccfs	p.P1289fs	ARID1B_ENST00000346085.5_Frame_Shift_Del_p.P1302fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.P1284fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.P1342fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1289					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)		AGGACAGATGCCCAACAGCAG	0.493																																					p.M1301fs		.											.	.	.	0			c.3903delG						.						158	153	155					6																	157517340		2203	4296	6499	SO:0001589	frameshift_variant	57492	exon16			CAGATGCCCAACA	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.3865delC	6.37:g.157517340delC	ENSP00000055163:p.Pro1289fs	41	0		32	11	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	CCDS5251.2																																																																																			.		0.493	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		-	157517340	C	-	157517340	7	5	34	1	0	1	0	1	0	0	0	0	914	739	26	0	3966	0	ARID1B	6	157517340	Frame_Shift_Del	DEL	C	TCGA-ZH-A8Y8-01A-51D-A417-09	40760570	157517340	13597727	50	5300											
CAMK2B	816	hgsc.bcm.edu;bcgsc.ca	37	7	44302636	44302636	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr7:44302636C>A	ENST00000395749.2	-	3	264	c.188G>T	c.(187-189)cGg>cTg	p.R63L	CAMK2B_ENST00000457475.1_Missense_Mutation_p.R63L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R63L|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R63L|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R63L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R63L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.R63L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.R63L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R63L|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R63L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	63	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						GCGGCAGATCCGAGCCTCTCT	0.617																																					p.R63L		.											.	.	.	0			c.G188T						.						60	59	60					7																	44302636		2203	4300	6503	SO:0001583	missense	816	exon3			CAGATCCGAGCCT	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.188G>T	7.37:g.44302636C>A	ENSP00000379098:p.Arg63Leu	80	0		55	5	NM_172081	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195106	0.94960	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747;ENST00000415369;ENST00000424197;ENST00000421607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.47	4.47	0.54385	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	0.64605	0.2613	N	0.12422	0.21	0.80722	D	1	P;D;P;B;P;P;P;D;P	0.63046	0.821;0.977;0.598;0.329;0.675;0.852;0.821;0.992;0.9	P;P;B;B;B;P;P;D;P	0.63033	0.523;0.753;0.399;0.413;0.308;0.654;0.698;0.91;0.657	T	0.69335	-0.5172	9	0.62326	D	0.03	.	12.8104	0.57637	0.0:1.0:0.0:0.0	.	63;63;63;63;63;63;63;63;63	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	L	63;63;63;63;63;63;63;63;63;63;79;63;63	ENSP00000326375:R63L;ENSP00000390292:R63L;ENSP00000379098:R63L;ENSP00000397937:R63L;ENSP00000351542:R63L;ENSP00000326427:R63L;ENSP00000326544:R63L;ENSP00000326518:R63L;ENSP00000258682:R63L;ENSP00000379096:R63L;ENSP00000390419:R79L;ENSP00000400387:R63L;ENSP00000388445:R63L	ENSP00000258682:R63L	R	-	2	0	CAMK2B	44269161	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	5.747000	0.68689	2.459000	0.83118	0.655000	0.94253	CGG	.		0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		A	44302636	C	A	44302636	3	1	34	1	0	0	0	0	1	0	0	0	2607	652	23	2	1899	2	CAMK2B	7	44302636	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09		44302636	114836027	51	5301											
ABCB4	5244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	87053267	87053267	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr7:87053267C>T	ENST00000265723.4	-	17	2277	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	ABCB4_ENST00000453593.1_Silent_p.G722G|ABCB4_ENST00000358400.3_Silent_p.G722G|ABCB4_ENST00000359206.3_Silent_p.G722G|ABCB4_ENST00000545634.1_Silent_p.G722G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	722	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCTGAAGCCCCCCATTGGCAA	0.453																																					p.G722G		.											.	.	.	0			c.G2166A						.						149	151	150					7																	87053267		2203	4300	6503	SO:0001819	synonymous_variant	5244	exon17			AAGCCCCCCATTG	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2166G>A	7.37:g.87053267C>T		60	0		42	10	NM_018850	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1																																																																																			.		0.453	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87053267	C	T	87053267	2	4	34	1	0	0	0	0	0	0	0	1	43	610	22	3		3	ABCB4	7	87053267	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	42750631	87053267	72085396	52	5302											
GIGYF1	64599	bcgsc.ca	37	7	100285182	100285182	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr7:100285182C>T	ENST00000275732.5	-	4	1528	c.319G>A	c.(319-321)Gct>Act	p.A107T	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	107					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)					GGGGGGCCAGCCCCTTTCCCC	0.692																																					p.A107T													.	GIGYF1	113	0			c.G319A						.						16	18	17					7																	100285182		2190	4277	6467	SO:0001583	missense	64599	exon4			GGCCAGCCCCTTT	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.319G>A	7.37:g.100285182C>T	ENSP00000275732:p.Ala107Thr	24	0		12	3	NM_022574	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	16.14	3.040139	0.55003	.	.	ENSG00000146830	ENST00000275732	D	0.82893	-1.66	4.97	2.02	0.26589	.	0.072305	0.56097	D	0.000026	T	0.65933	0.2739	N	0.19112	0.55	0.38173	D	0.939393	B	0.24186	0.099	B	0.19946	0.027	T	0.54029	-0.8354	10	0.10377	T	0.69	-3.9431	9.3897	0.38365	0.1525:0.5524:0.2951:0.0	.	107	O75420	PERQ1_HUMAN	T	107	ENSP00000275732:A107T	ENSP00000275732:A107T	A	-	1	0	GIGYF1	100123118	1.000000	0.71417	0.939000	0.37840	0.160000	0.22226	3.397000	0.52572	0.226000	0.20979	0.462000	0.41574	GCT	.		0.692	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		T	100285182	C	T	100285182	3	4	34	1	0	0	0	0	1	0	0	0	6403	739	26	3	2872	3	GIGYF1	7	100285182	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	13231915	100285182	58853481	53	5303											
NAMPT	10135	hgsc.bcm.edu;bcgsc.ca	37	7	105894878	105894878	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr7:105894878G>T	ENST00000222553.3	-	9	1469	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	388					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTCAACTTCTGTAGCAAACCT	0.358																																					p.Q388K		.											.	.	.	0			c.C1162A						.						136	118	124					7																	105894878		2203	4300	6503	SO:0001583	missense	10135	exon9			ACTTCTGTAGCAA	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1162C>A	7.37:g.105894878G>T	ENSP00000222553:p.Gln388Lys	60	0		66	4	NM_005746	A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969420	0.92855	.	.	ENSG00000105835	ENST00000222553	.	.	.	5.21	5.21	0.72293	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89639	0.3861	9	0.59425	D	0.04	-1.4489	19.1305	0.93404	0.0:0.0:1.0:0.0	.	388	P43490	NAMPT_HUMAN	K	388	.	ENSP00000222553:Q388K	Q	-	1	0	NAMPT	105682114	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.420000	0.97426	2.590000	0.87494	0.467000	0.42956	CAG	.		0.358	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		T	105894878	G	T	105894878	3	4	34	1	0	0	0	0	1	0	0	0	10187	1386	48	3	325	3	NAMPT	7	105894878	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	5609696	105894878	53243785	54	5304											
PRSS37	136242	hgsc.bcm.edu	37	7	141536247	141536247	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr7:141536247G>T	ENST00000350549.3	-	5	1027	c.656C>A	c.(655-657)aCc>aAc	p.T219N	PRSS37_ENST00000438520.1_Missense_Mutation_p.T219N	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.T219N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTAAACATTGGTGTAGATGCC	0.517																																					p.T219N		.											PRSS37,NS,carcinoma,0,1	PRSS37	0	1	Substitution - Missense(1)	lung(1)	c.C656A						.						209	177	188					7																	141536247		2203	4300	6503	SO:0001583	missense	136242	exon5			ACATTGGTGTAGA		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.656C>A	7.37:g.141536247G>T	ENSP00000297767:p.Thr219Asn	47	0		44	2	NM_001008270	B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	g	17.94	3.510572	0.64522	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	T;T	0.54479	0.57;0.57	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000017	T	0.73768	0.3629	M	0.83483	2.645	0.43230	D	0.995128	D;D	0.57571	0.98;0.98	D;D	0.65573	0.936;0.936	T	0.77216	-0.2669	10	0.72032	D	0.01	.	16.4526	0.83997	0.0:0.0:1.0:0.0	.	218;219	B7ZMK3;A4D1T9	.;PRS37_HUMAN	N	219	ENSP00000297767:T219N;ENSP00000414461:T219N	ENSP00000297767:T219N	T	-	2	0	PRSS37	141182716	1.000000	0.71417	0.997000	0.53966	0.317000	0.28152	5.664000	0.68045	2.761000	0.94854	0.585000	0.79938	ACC	.		0.517	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		T	141536247	G	T	141536247	3	4	34	1	0	0	0	0	1	0	0	0	12668	1261	44	3	55	3	PRSS37	7	141536247	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	35641369	141536247	17602416	55	5305											
ESYT2	57488	broad.mit.edu;bcgsc.ca	37	7	158560431	158560435	+	Frame_Shift_Del	DEL	ATATT	ATATT	-			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr7:158560431_158560435delATATT	ENST00000251527.5	-	8	1043_1047	c.978_982delAATAT	c.(976-984)ataatatcafs	p.IS327fs		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	355	Glycerophospholipid-binding barrel-like domain.				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						AGATAGTTTGATATTATATCCAAAA	0.42																																					p.326_328del													.	ESYT2	70	0			c.978_982del						.																																			SO:0001589	frameshift_variant	57488	exon8			AGTTTGATATTAT	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.978_982delAATAT	7.37:g.158560431_158560435delATATT	ENSP00000251527:p.Ile327fs	83	0		72	9	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Frame_Shift_Del	DEL	ENST00000251527.5	37	CCDS34791.1																																																																																			.		0.42	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		-	158560435	ATATT	-	158560431	7	5	34	1	0	1	0	1	0	0	0	0	5281	333	12	0	1759	0	ESYT2	7	158560431	Frame_Shift_Del	DEL	ATATT	TCGA-ZH-A8Y8-01A-51D-A417-09	17024184	158560431	578232	56	5306											
DEFA1	1668	hgsc.bcm.edu	37	8	6873578	6873578	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr8:6873578G>A	ENST00000327857.2	-	3	310	c.219C>T	c.(217-219)tgC>tgT	p.C73C	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1	P59666	DEF3_HUMAN	defensin, alpha 3, neutrophil-specific	73					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.C73C(1)		endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		CTCCTGCAATGCACGCTGGTA	0.463																																					p.C73C		.											DEFA3,NS,carcinoma,0,1	DEFA3	0	1	Substitution - coding silent(1)	endometrium(1)	c.C219T						.						116	87	96					8																	6873578		1914	4089	6003	SO:0001819	synonymous_variant	1667	exon3			TGCAATGCACGCT	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.219C>T	8.37:g.6873578G>A		70	0		69	3	NM_004084	P11479|Q14125	Silent	SNP	ENST00000327857.2	37	CCDS5962.1																																																																																			.		0.463	DEFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206753.2	NM_005217		A	6873578	G	A	6873578	2	1	34	1	0	0	0	0	0	0	0	1	4397	1311	46	3		3	DEFA1	8	6873578	Silent	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		6873578	139490444	57	5307											
C8orf40	114926	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	42403821	42403821	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr8:42403821A>C	ENST00000438528.3	+	3	206	c.157A>C	c.(157-159)Ata>Cta	p.I53L	SMIM19_ENST00000417410.2_Missense_Mutation_p.I53L|SMIM19_ENST00000414154.2_Missense_Mutation_p.I53L|SMIM19_ENST00000416469.2_Missense_Mutation_p.I53L|SMIM19_ENST00000490331.2_Missense_Mutation_p.I53L	NM_001135676.1	NP_001129148.1	Q96E16	SMI19_HUMAN	small integral membrane protein 19	53						integral component of membrane (GO:0016021)											AATTATGAGGATATTCAGTGT	0.368																																					p.I53L													.	.	.	0			c.A157C						.						105	102	103					8																	42403821		2203	4300	6503	SO:0001583	missense	114926	exon3			ATGAGGATATTCA	BC013035	CCDS6133.2	8p11.21	2013-03-08	2013-03-08	2013-03-08	ENSG00000176209	ENSG00000176209			25166	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 40"	C8orf40		12477932	Standard	NM_001135674		Approved		uc011lcv.2	Q96E16	OTTHUMG00000157060	ENST00000438528.3:c.157A>C	8.37:g.42403821A>C	ENSP00000391549:p.Ile53Leu	84	0		68	11	NM_001135675	B2R4S6|D3DSY4	Missense_Mutation	SNP	ENST00000438528.3	37	CCDS6133.2	.	.	.	.	.	.	.	.	.	.	A	34	5.330687	0.95733	.	.	ENSG00000176209	ENST00000438528;ENST00000518574;ENST00000417410;ENST00000414154;ENST00000416469;ENST00000490331	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	L	0.34521	1.04	0.58432	D	0.999999	P	0.51147	0.942	D	0.64595	0.927	T	0.64462	-0.6402	9	0.42905	T	0.14	.	14.1525	0.65395	1.0:0.0:0.0:0.0	.	53	Q96E16	CH040_HUMAN	L	53;3;53;53;53;53	.	ENSP00000408997:I53L	I	+	1	0	C8orf40	42522978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.573000	0.74009	2.229000	0.72834	0.533000	0.62120	ATA	.		0.368	SMIM19-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347309.2	NM_138436		C	42403821	A	C	42403821	3	2	34	1	0	0	0	0	1	0	0	0	2433	333	12	4	163	4	C8orf40	8	42403821	Missense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09	35530243	42403821	103960201	58	5308											
ESRP1	54845	hgsc.bcm.edu	37	8	95653675	95653675	+	Missense_Mutation	SNP	G	G	T	rs371931710		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr8:95653675G>T	ENST00000433389.2	+	1	319	c.129G>T	c.(127-129)aaG>aaT	p.K43N	RP11-22C11.2_ENST00000562760.1_RNA|ESRP1_ENST00000358397.5_Missense_Mutation_p.K43N|ESRP1_ENST00000423620.2_Missense_Mutation_p.K43N|ESRP1_ENST00000454170.2_Missense_Mutation_p.K43N	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	43					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						TGGCCAACAAGAAGGTATTTC	0.517																																					p.K43N		.											ESRP1_ENST00000433389,NS,carcinoma,0,2	ESRP1_ENST00000433389	0	0			c.G129T						.						91	92	92					8																	95653675		1928	4125	6053	SO:0001583	missense	54845	exon1			CAACAAGAAGGTA	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.129G>T	8.37:g.95653675G>T	ENSP00000405738:p.Lys43Asn	38	0		44	2	NM_001122827	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178089	0.38511	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.228496	0.42682	D	0.000669	T	0.19485	0.0468	N	0.05230	-0.09	0.44862	D	0.997879	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.001;0.001	B;B;B;B;B	0.13407	0.009;0.003;0.002;0.003;0.001	T	0.13202	-1.0518	10	0.12430	T	0.62	-5.5277	9.0004	0.36079	0.1654:0.0:0.8346:0.0	.	43;43;43;43;43	Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;ESRP1_HUMAN	N	43	ENSP00000407349:K43N;ENSP00000405738:K43N;ENSP00000351168:K43N;ENSP00000402766:K43N	ENSP00000351168:K43N	K	+	3	2	ESRP1	95722851	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.429000	0.59901	2.323000	0.78572	0.655000	0.94253	AAG	.		0.517	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		T	95653675	G	T	95653675	3	4	34	1	0	0	0	0	1	0	0	0	5274	933	33	3	131	3	ESRP1	8	95653675	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	53249854	95653675	50710347	59	5309											
TTC35	9694	hgsc.bcm.edu	37	8	109482343	109482343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr8:109482343G>T	ENST00000220853.3	+	7	537	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	168						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TTACATCAATGAACATGAGTA	0.373																																					p.E168X		.											TTC35,NS,carcinoma,0,1	TTC35	0	0			c.G502T						.						56	53	54					8																	109482343		2203	4300	6503	SO:0001587	stop_gained	9694	exon7			ATCAATGAACATG	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.502G>T	8.37:g.109482343G>T	ENSP00000220853:p.Glu168*	31	0		33	2	NM_014673	Q8WUE1	Nonsense_Mutation	SNP	ENST00000220853.3	37	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.697664|4.697664	0.88830|0.88830	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000220853|ENST00000519642	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80019	.|0.4547	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77582	.|-0.2534	.|3	0.07990|.	T|.	0.79|.	-16.07|-16.07	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	168|115	.|.	ENSP00000220853:E168X|.	E|M	+|+	1|3	0|0	TTC35|TTC35	109551519|109551519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.251000|9.251000	0.95483|0.95483	2.810000|2.810000	0.96702|0.96702	0.650000|0.650000	0.86243|0.86243	GAA|ATG	.		0.373	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		T	109482343	G	T	109482343	4	4	34	1	0	0	0	0	0	1	0	0	16752	1291	45	3	528	3	TTC35	8	109482343	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	13828668	109482343	36881679	60	5310											
CSMD3	114788	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	113988300	113988300	+	Missense_Mutation	SNP	C	C	T	rs112359948		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr8:113988300C>T	ENST00000297405.5	-	7	1352	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	CSMD3_ENST00000343508.3_Missense_Mutation_p.V330I|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V370I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	370						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						GTGCTAGCAACAGCAATAGCA	0.483										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.V370I													.	CSMD3	2325	0			c.G1108A						.						175	160	165					8																	113988300		2203	4300	6503	SO:0001583	missense	114788	exon7			TAGCAACAGCAAT	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.1108G>A	8.37:g.113988300C>T	ENSP00000297405:p.Val370Ile	39	0		44	7	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522403	0.44866	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.19669	2.13;2.13;2.14	6.08	6.08	0.98989	.	0.255485	0.25639	N	0.029283	T	0.16428	0.0395	N	0.22421	0.69	0.26241	N	0.978873	B;B	0.22346	0.041;0.068	B;B	0.23419	0.021;0.046	T	0.14531	-1.0469	10	0.22109	T	0.4	.	16.0708	0.80928	0.0:0.8668:0.1332:0.0	.	370;330	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	I	330;370;370	ENSP00000345799:V330I;ENSP00000297405:V370I;ENSP00000343124:V370I	ENSP00000297405:V370I	V	-	1	0	CSMD3	114057476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.650000	0.54424	2.890000	0.99128	0.655000	0.94253	GTT	C|0.500;T|0.500		0.483	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113988300	C	T	113988300	3	4	34	1	0	0	0	0	1	0	0	0	3955	478	17	3	10275	3	CSMD3	8	113988300	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	4505957	113988300	32375722	61	5311											
HNRNPK	3190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	86592623	86592623	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr9:86592623C>T	ENST00000376264.2	-	4	395	c.137G>A	c.(136-138)cGc>cAc	p.R46H	HNRNPK_ENST00000376263.3_Missense_Mutation_p.R46H|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R46H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R46H|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R46H	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	46	Interaction with ASFV p30.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AAGCAGAATGCGTAATTCAAC	0.353																																					p.R46H		.											.	.	.	0			c.G137A						.						74	71	72					9																	86592623		2202	4299	6501	SO:0001583	missense	3190	exon4			AGAATGCGTAATT		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.137G>A	9.37:g.86592623C>T	ENSP00000365440:p.Arg46His	37	0		30	5	NM_031262	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714936	0.68844	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.03	5.03	0.67393	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.83774	2.66	0.80722	D	1	B;B;B;B;B;B;B;B	0.24823	0.0;0.112;0.002;0.002;0.006;0.001;0.001;0.007	B;B;B;B;B;B;B;B	0.20955	0.001;0.032;0.001;0.002;0.005;0.0;0.006;0.008	T	0.52845	-0.8521	10	0.72032	D	0.01	0.5278	18.7769	0.91915	0.0:1.0:0.0:0.0	.	46;46;46;46;46;46;46;46	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	46	ENSP00000365458:R46H;ENSP00000365440:R46H;ENSP00000365439:R46H;ENSP00000317788:R46H;ENSP00000353552:R46H;ENSP00000409456:R46H	ENSP00000317788:R46H	R	-	2	0	HNRNPK	85782443	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.814000	0.55643	2.490000	0.84030	0.644000	0.83932	CGC	.		0.353	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			T	86592623	C	T	86592623	3	4	34	1	0	0	0	0	1	0	0	0	7296	768	27	1	1348	1	HNRNPK	9	86592623	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09		86592623	54620808	62	5312											
SVEP1	79987	hgsc.bcm.edu	37	9	113166721	113166721	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr9:113166721C>T	ENST00000401783.2	-	39	9888	c.9552G>A	c.(9550-9552)ccG>ccA	p.P3184P	SVEP1_ENST00000297826.5_Silent_p.P1110P|SVEP1_ENST00000374469.1_Silent_p.P3161P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3184	Sushi 30. {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)	p.P3187P(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						TTATGTTTTCCGGGAGAGGAC	0.428																																					p.P3184P		.											SVEP1,NS,carcinoma,0,1	SVEP1	0	2	Substitution - coding silent(2)	prostate(1)|lung(1)	c.G9552A						.						258	255	256					9																	113166721		1881	4106	5987	SO:0001819	synonymous_variant	79987	exon39			GTTTTCCGGGAGA	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.9552G>A	9.37:g.113166721C>T		66	1		46	2	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			.		0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113166721	C	T	113166721	2	4	34	1	0	0	0	0	0	0	0	1	15467	639	23	1		1	SVEP1	9	113166721	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	26574098	113166721	28046710	63	5313											
ITIH5	80760	hgsc.bcm.edu	37	10	7608296	7608296	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr10:7608296G>A	ENST00000256861.6	-	13	2302	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	ITIH5_ENST00000446830.2_Missense_Mutation_p.R524C|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.R528C	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	742					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R742C(1)		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						GTGATAGTGCGCAAGTAAGTG	0.527																																					p.R742C		.											ITIH5,NS,adenocarcinoma,+1,1	ITIH5	+1	1	Substitution - Missense(1)	endometrium(1)	c.C2224T						.						111	95	101					10																	7608296		2203	4300	6503	SO:0001583	missense	80760	exon13			TAGTGCGCAAGTA			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.2224C>T	10.37:g.7608296G>A	ENSP00000256861:p.Arg742Cys	36	0		36	2	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	18.09	3.547292	0.65311	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12255	2.7;2.7;2.7	5.84	0.122	0.14702	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.297109	0.45126	D	0.000385	T	0.29093	0.0723	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.63192	0.912;0.857	T	0.02917	-1.1094	9	0.72032	D	0.01	-6.0799	9.4182	0.38534	0.0:0.4035:0.2912:0.3054	.	742;528	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	C	742;528;524	ENSP00000256861:R742C;ENSP00000298441:R528C;ENSP00000387969:R524C	ENSP00000256861:R742C	R	-	1	0	ITIH5	7648302	1.000000	0.71417	0.991000	0.47740	0.642000	0.38348	3.485000	0.53208	0.035000	0.15519	-0.165000	0.13383	CGC	.		0.527	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		A	7608296	G	A	7608296	3	1	34	1	0	0	0	0	1	0	0	0	7934	1087	38	1	654	1	ITIH5	10	7608296	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		7608296	127926451	64	5314											
PARD3	56288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	34671618	34671618	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr10:34671618A>C	ENST00000374789.3	-	9	1574	c.1249T>G	c.(1249-1251)Tct>Gct	p.S417A	PARD3_ENST00000346874.4_Missense_Mutation_p.S417A|PARD3_ENST00000340077.5_Missense_Mutation_p.S417A|PARD3_ENST00000374776.1_Missense_Mutation_p.S417A|PARD3_ENST00000374773.1_Missense_Mutation_p.S417A|PARD3_ENST00000374794.3_Missense_Mutation_p.S373A|PARD3_ENST00000374790.3_Missense_Mutation_p.S373A|PARD3_ENST00000374788.3_Missense_Mutation_p.S417A|PARD3_ENST00000545693.1_Missense_Mutation_p.S417A|PARD3_ENST00000350537.4_Missense_Mutation_p.S417A|PARD3_ENST00000544292.1_Missense_Mutation_p.S147A|PARD3_ENST00000545260.1_Missense_Mutation_p.S373A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	417					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)				CTTGAGTGAGAGTCTATCTGC	0.552																																					p.S417A		.											.	.	.	0			c.T1249G						.						162	122	135					10																	34671618		2203	4300	6503	SO:0001583	missense	56288	exon9			AGTGAGAGTCTAT	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.1249T>G	10.37:g.34671618A>C	ENSP00000363921:p.Ser417Ala	58	0		41	6	NM_001184788	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	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724416	0.30593	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.18016	2.62;2.65;2.67;2.66;2.68;2.66;2.63;2.65;2.29;2.24;2.34;2.32	5.69	-5.78	0.02362	.	0.794445	0.11942	N	0.514622	T	0.07503	0.0189	L	0.31294	0.92	0.27250	N	0.958907	B;B;B;B;B;B;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;0.0;0.0;0.001;0.001;0.0;0.001;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.002;0.003;0.002;0.003;0.002;0.002;0.001;0.001;0.001;0.001;0.002;0.003;0.002;0.005	T	0.41124	-0.9526	10	0.11485	T	0.65	.	3.0567	0.06187	0.4953:0.2142:0.2034:0.0871	.	373;373;417;417;417;417;417;417;373;417;417;417;417;417;147	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;.;.;.;.;.;.;.	A	417;373;417;417;417;373;417;373;417;417;417;147	ENSP00000443147:S417A;ENSP00000440857:S373A;ENSP00000363921:S417A;ENSP00000363920:S417A;ENSP00000340591:S417A;ENSP00000363926:S373A;ENSP00000311986:S417A;ENSP00000363922:S373A;ENSP00000363908:S417A;ENSP00000341844:S417A;ENSP00000363905:S417A;ENSP00000444429:S147A	ENSP00000341844:S417A	S	-	1	0	PARD3	34711624	0.906000	0.30813	0.000000	0.03702	0.934000	0.57294	0.008000	0.13197	-1.419000	0.02012	0.533000	0.62120	TCT	.		0.552	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		C	34671618	A	C	34671618	3	2	34	1	0	0	0	0	1	0	0	0	11482	304	11	4	2924	4	PARD3	10	34671618	Missense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09	27063322	34671618	100863129	65	5315											
NCOA4	8031	hgsc.bcm.edu	37	10	51582263	51582263	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr10:51582263G>T	ENST00000443446.1	+	6	790	c.561G>T	c.(559-561)atG>atT	p.M187I	NCOA4_ENST00000452682.1_Missense_Mutation_p.M203I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.M187I|NCOA4_ENST00000374082.1_Missense_Mutation_p.M187I|NCOA4_ENST00000374087.4_Missense_Mutation_p.M187I|NCOA4_ENST00000414907.2_Missense_Mutation_p.M21I|NCOA4_ENST00000438493.1_Missense_Mutation_p.M203I|NCOA4_ENST00000430396.2_Missense_Mutation_p.M87I	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	187					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.M203I(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTATCTCCATGCCAGAGCAGG	0.358			T	RET	papillary thyroid																																p.M203I		.		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	NCOA4_ENST00000452682,NS,carcinoma,0,1	NCOA4_ENST00000452682	0	1	Substitution - Missense(1)	kidney(1)	c.G609T						.						106	104	104					10																	51582263		2203	4300	6503	SO:0001583	missense	8031	exon7			CTCCATGCCAGAG	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.561G>T	10.37:g.51582263G>T	ENSP00000390713:p.Met187Ile	49	0		47	2	NM_001145261	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.200|0.200	-1.045839|-1.045839	0.01997|0.01997	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000431200|ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	.|T;T;T;T;T;T;T;T	.|0.21191	.|2.62;2.61;2.35;2.62;2.02;2.62;2.34;2.62	5.35|5.35	1.47|1.47	0.22746|0.22746	.|.	.|1.240080	.|0.05111	.|N	.|0.488930	T|T	0.17066|0.17066	0.0410|0.0410	L|L	0.36672|0.36672	1.1|1.1	0.21416|0.21416	N|N	0.999695|0.999695	.|B;B;B;B	.|0.17667	.|0.023;0.002;0.01;0.0	.|B;B;B;B	.|0.11329	.|0.006;0.004;0.004;0.0	T|T	0.32561|0.32561	-0.9902|-0.9902	5|10	.|0.20046	.|T	.|0.44	-14.6911|-14.6911	7.1894|7.1894	0.25816|0.25816	0.3534:0.0:0.6466:0.0|0.3534:0.0:0.6466:0.0	.|.	.|87;203;203;187	.|B4DF87;B4E260;E9PAV7;Q13772	.|.;.;.;NCOA4_HUMAN	S|I	103|203;203;87;187;187;21;187;187;187	.|ENSP00000405146:M203I;ENSP00000395465:M203I;ENSP00000393053:M87I;ENSP00000363200:M187I;ENSP00000411018:M21I;ENSP00000344552:M187I;ENSP00000363195:M187I;ENSP00000390713:M187I	.|ENSP00000332421:M187I	A|M	+|+	1|3	0|0	NCOA4|NCOA4	51252269|51252269	0.885000|0.885000	0.30320|0.30320	0.609000|0.609000	0.28983|0.28983	0.032000|0.032000	0.12392|0.12392	0.866000|0.866000	0.27954|0.27954	0.187000|0.187000	0.20147|0.20147	-0.136000|-0.136000	0.14681|0.14681	GCC|ATG	.		0.358	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		T	51582263	G	T	51582263	3	4	34	1	0	0	0	0	1	0	0	0	10270	1319	46	3	631	3	NCOA4	10	51582263	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	16910645	51582263	83952484	66	5316											
PRKG1	5592	hgsc.bcm.edu	37	10	53893621	53893621	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr10:53893621C>T	ENST00000401604.2	+	8	1106	c.912C>T	c.(910-912)aaC>aaT	p.N304N	PRKG1_ENST00000373975.2_Silent_p.N22N|PRKG1_ENST00000373985.1_Silent_p.N292N|PRKG1_ENST00000373980.4_Silent_p.N319N			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	304	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)	p.N319N(1)		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)		GAACAGCAAACGTAATTGCTG	0.348																																					p.N319N		.											PRKG1,rectum,carcinoma,0,1	PRKG1	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T						.						169	168	168					10																	53893621		2203	4300	6503	SO:0001819	synonymous_variant	5592	exon8			AGCAAACGTAATT		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.912C>T	10.37:g.53893621C>T		43	0		34	2	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	CCDS44399.1																																																																																			.		0.348	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	53893621	C	T	53893621	2	4	34	1	0	0	0	0	0	0	0	1	12564	535	19	1		1	PRKG1	10	53893621	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	2311358	53893621	81641126	67	5317											
TACR2	6865	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	71174776	71174776	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr10:71174776G>T	ENST00000373306.4	-	2	1055	c.512C>A	c.(511-513)aCc>aAc	p.T171N		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	171					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						CATGGTGACGGTGGAGTAGAA	0.647																																					p.T171N		.											.	.	.	0			c.C512A						.						96	86	89					10																	71174776		2203	4300	6503	SO:0001583	missense	6865	exon2			GTGACGGTGGAGT		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.512C>A	10.37:g.71174776G>T	ENSP00000362403:p.Thr171Asn	33	0		32	4	NM_001057	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518266	0.27211	.	.	ENSG00000075073	ENST00000373306	T	0.71934	-0.61	5.51	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.329884	0.31290	N	0.007918	T	0.58666	0.2138	L	0.38953	1.18	0.34123	D	0.66439	B	0.06786	0.001	B	0.15052	0.012	T	0.62469	-0.6848	10	0.23891	T	0.37	.	12.559	0.56271	0.0:0.0:0.4878:0.5122	.	171	P21452	NK2R_HUMAN	N	171	ENSP00000362403:T171N	ENSP00000362403:T171N	T	-	2	0	TACR2	70844782	1.000000	0.71417	0.998000	0.56505	0.253000	0.25986	2.551000	0.45820	1.454000	0.47793	-0.181000	0.13052	ACC	.		0.647	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			T	71174776	G	T	71174776	3	4	34	1	0	0	0	0	1	0	0	0	15553	1261	44	3	700	3	TACR2	10	71174776	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	17281155	71174776	64359971	68	5318											
WAPAL	23063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	88230836	88230836	+	Missense_Mutation	SNP	A	A	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr10:88230836A>C	ENST00000298767.5	-	8	2527	c.2055T>G	c.(2053-2055)tgT>tgG	p.C685W	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	685	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGGGCATGGCACATTTAGTAG	0.413																																					p.C685W		.											.	.	.	0			c.T2055G						.						92	83	86					10																	88230836		2203	4300	6503	SO:0001583	missense	23063	exon8			CATGGCACATTTA	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2055T>G	10.37:g.88230836A>C	ENSP00000298767:p.Cys685Trp	44	0		32	6	NM_015045	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632106	0.67015	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.51817	0.69	5.96	3.63	0.41609	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.87180	2.865	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	T	0.70831	-0.4765	10	0.87932	D	0	.	7.8611	0.29509	0.7275:0.0:0.2725:0.0	.	679;685;722	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	W	770;685;770	ENSP00000298767:C685W	ENSP00000298767:C685W	C	-	3	2	WAPAL	88220816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.684000	0.37649	1.078000	0.41014	0.528000	0.53228	TGT	.		0.413	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		C	88230836	A	C	88230836	3	2	34	1	0	0	0	0	1	0	0	0	17297	157	6	4	1565	4	WAPAL	10	88230836	Missense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09	17056060	88230836	47303911	69	5319											
TRPM5	29850	hgsc.bcm.edu	37	11	2443523	2443523	+	Missense_Mutation	SNP	G	G	T	rs200361945		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:2443523G>T	ENST00000155858.6	-	2	154	c.146C>A	c.(145-147)cCg>cAg	p.P49Q	TRPM5_ENST00000452833.1_Missense_Mutation_p.P49Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.P49Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.P49Q	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)		GAGCACAGACGGGGCCACTCC	0.662																																					p.P49Q	NSCLC(1;49 61 17205 18850 43201)	.											TRPM5,bladder,carcinoma,0,1	TRPM5	0	0			c.C146A						.						48	51	50					11																	2443523		2199	4299	6498	SO:0001583	missense	29850	exon2			ACAGACGGGGCCA	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.146C>A	11.37:g.2443523G>T	ENSP00000155858:p.Pro49Gln	53	0		49	3	NM_014555		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	g	14.84	2.654425	0.47467	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	2.64	2.64	0.31445	.	0.000000	0.64402	U	0.000014	D	0.89339	0.6687	M	0.80616	2.505	0.40030	D	0.97552	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89767	0.3951	10	0.87932	D	0	-15.2711	8.9439	0.35747	0.0:0.0:1.0:0.0	.	49;49;49	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	41;49;49;49;49;49	ENSP00000434383:P41Q;ENSP00000155858:P49Q;ENSP00000387965:P49Q;ENSP00000434121:P49Q;ENSP00000436809:P49Q	ENSP00000155858:P49Q	P	-	2	0	TRPM5	2400099	1.000000	0.71417	0.985000	0.45067	0.063000	0.16089	2.906000	0.48735	1.810000	0.52873	0.586000	0.80456	CCG	.		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		T	2443523	G	T	2443523	3	4	34	1	0	0	0	0	1	0	0	0	16637	1116	39	2	3443	2	TRPM5	11	2443523	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		2443523	132562993	70	5320											
OR51F2	119694	hgsc.bcm.edu	37	11	4842747	4842747	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:4842747T>C	ENST00000322110.5	+	1	197	c.132T>C	c.(130-132)ccT>ccC	p.P44P	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	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P44P(1)		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)		TCTCCATCCCTTTTTGTCTCC	0.483																																					p.P44P		.											OR51F2,NS,carcinoma,0,1	OR51F2	0	1	Substitution - coding silent(1)	lung(1)	c.T132C						.						274	271	272					11																	4842747		2201	4298	6499	SO:0001819	synonymous_variant	119694	exon1			CATCCCTTTTTGT	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.132T>C	11.37:g.4842747T>C		55	0		48	2	NM_001004753	Q6IFI1	Silent	SNP	ENST00000322110.5	37	CCDS31361.1																																																																																			.		0.483	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		C	4842747	T	C	4842747	2	2	34	1	0	0	0	0	0	0	0	1	11136	1596	56	4		4	OR51F2	11	4842747	Silent	SNP	T	TCGA-ZH-A8Y8-01A-51D-A417-09	2399224	4842747	130163769	71	5321											
TRIM5	85363	hgsc.bcm.edu	37	11	5686556	5686556	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:5686556G>T	ENST00000380034.3	-	8	1221	c.965C>A	c.(964-966)tCt>tAt	p.S322Y	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000305836.5_Missense_Mutation_p.S322Y	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	322	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		TGGTTTCGGAGAGCTCACTTG	0.413																																					p.S322Y		.											TRIM5_ENST00000380034,NS,carcinoma,0,2	TRIM5_ENST00000380034	0	0			c.C965A						.						71	70	70					11																	5686556		2201	4297	6498	SO:0001583	missense	85363	exon8			TTCGGAGAGCTCA	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.965C>A	11.37:g.5686556G>T	ENSP00000369373:p.Ser322Tyr	47	0		35	2	NM_033034	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	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.391254	0.00014	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	T;T	0.59502	0.26;0.26	0.158	-0.317	0.12736	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	3.715760	0.00616	N	0.000431	T	0.23649	0.0572	N	0.01515	-0.825	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32587	-0.9901	9	0.02654	T	1	.	.	.	.	.	322	Q9C035	TRIM5_HUMAN	Y	322	ENSP00000307031:S322Y;ENSP00000369373:S322Y	ENSP00000307031:S322Y	S	-	2	0	TRIM5	5643132	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	-0.320000	0.08028	-1.053000	0.03218	-1.043000	0.02367	TCT	.		0.413	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		T	5686556	G	T	5686556	3	4	34	1	0	0	0	0	1	0	0	0	16573	942	33	3	610	3	TRIM5	11	5686556	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	843809	5686556	129319960	72	5322											
OR2AG1	144125	hgsc.bcm.edu	37	11	6806283	6806283	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:6806283C>A	ENST00000307401.4	+	1	36	c.15C>A	c.(13-15)aaC>aaA	p.N5K		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCTCTGGAACTTCACCTTGG	0.428																																					p.N5K		.											OR2AG1,NS,carcinoma,0,1	OR2AG1	0	1	Substitution - Missense(1)	kidney(1)	c.C15A						.						107	103	104					11																	6806283		2201	4296	6497	SO:0001583	missense	144125	exon1			CTGGAACTTCACC	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.15C>A	11.37:g.6806283C>A	ENSP00000307447:p.Asn5Lys	44	0		26	2	NM_001004489	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933330	0.18131	.	.	ENSG00000170803	ENST00000307401	T	0.64085	-0.08	4.25	1.32	0.21799	.	0.475888	0.19469	N	0.113503	T	0.78559	0.4302	M	0.92268	3.29	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66428	-0.5926	10	0.87932	D	0	.	3.3044	0.06994	0.1836:0.5233:0.0:0.2931	.	5	Q9H205	O2AG1_HUMAN	K	5	ENSP00000307447:N5K	ENSP00000307447:N5K	N	+	3	2	OR2AG1	6762859	0.000000	0.05858	0.557000	0.28306	0.056000	0.15407	-0.541000	0.06099	0.190000	0.20209	-0.237000	0.12165	AAC	.		0.428	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		A	6806283	C	A	6806283	3	1	34	1	0	0	0	0	1	0	0	0	11023	564	20	3	17	3	OR2AG1	11	6806283	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	1119727	6806283	128200233	73	5323											
OR2D3	120775	hgsc.bcm.edu	37	11	6942250	6942250	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:6942250G>T	ENST00000317834.3	+	1	46	c.18G>T	c.(16-18)ttG>ttT	p.L6F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	6						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)		CTTTTTTCTTGTGCCAAACAG	0.398																																					p.L6F		.											OR2D3,right_upper_lobe,carcinoma,0,1	OR2D3	0	0			c.G18T						.						68	70	69					11																	6942250		2201	4296	6497	SO:0001583	missense	120775	exon1			TTTCTTGTGCCAA	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.18G>T	11.37:g.6942250G>T	ENSP00000320560:p.Leu6Phe	67	0		44	2	NM_001004684	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.574904	0.03882	.	.	ENSG00000178358	ENST00000317834	T	0.01495	4.83	4.24	-2.5	0.06384	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45556	-0.9253	9	0.48119	T	0.1	.	5.2207	0.15368	0.4818:0.1583:0.3599:0.0	.	6	Q8NGH3	OR2D3_HUMAN	F	6	ENSP00000320560:L6F	ENSP00000320560:L6F	L	+	3	2	OR2D3	6898826	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.301000	0.08232	-0.463000	0.06973	0.650000	0.86243	TTG	.		0.398	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		T	6942250	G	T	6942250	3	4	34	1	0	0	0	0	1	0	0	0	11034	1368	48	3	20	3	OR2D3	11	6942250	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	135967	6942250	128064266	74	5324											
ST5	6764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	8752429	8752429	+	Missense_Mutation	SNP	C	C	G			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:8752429C>G	ENST00000534127.1	-	6	793	c.408G>C	c.(406-408)caG>caC	p.Q136H	ST5_ENST00000313726.6_Missense_Mutation_p.Q136H|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.Q136H|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	136					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ATGGCGTGCTCTGGGCAAGGG	0.667																																					p.Q136H		.											.	.	.	0			c.G408C						.						37	45	43					11																	8752429		2201	4295	6496	SO:0001583	missense	6764	exon6			CGTGCTCTGGGCA	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.408G>C	11.37:g.8752429C>G	ENSP00000433528:p.Gln136His	34	0		31	9	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	6.978	0.550453	0.13374	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580	T;T;T	0.05139	3.49;3.49;3.49	5.87	2.76	0.32466	.	0.794745	0.12439	N	0.468831	T	0.08537	0.0212	L	0.47716	1.5	0.31839	N	0.623767	B	0.02656	0.0	B	0.01281	0.0	T	0.03875	-1.0996	10	0.56958	D	0.05	-3.3912	13.9428	0.64066	0.0:0.6225:0.3141:0.0634	.	136	P78524	ST5_HUMAN	H	136;136;136;136;166;136;136;136;153	ENSP00000433528:Q136H;ENSP00000319678:Q136H;ENSP00000350294:Q136H	ENSP00000319678:Q136H	Q	-	3	2	ST5	8709005	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	1.639000	0.37176	0.803000	0.34113	-0.140000	0.14226	CAG	.		0.667	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		G	8752429	C	G	8752429	3	3	34	1	0	0	0	0	1	0	0	0	15267	912	32	5	3077	5	ST5	11	8752429	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	1810179	8752429	126254087	75	5325											
NAV2	89797	ucsc.edu;bcgsc.ca	37	11	20101694	20101694	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:20101694G>T	ENST00000396087.3	+	27	5531	c.5432G>T	c.(5431-5433)aGc>aTc	p.S1811I	NAV2_ENST00000349880.4_Missense_Mutation_p.S1755I|NAV2_ENST00000360655.4_Missense_Mutation_p.S1691I|NAV2_ENST00000540292.1_Missense_Mutation_p.S1742I|NAV2_ENST00000396085.1_Missense_Mutation_p.S1755I|NAV2_ENST00000311043.8_Missense_Mutation_p.S819I|NAV2_ENST00000533917.1_Missense_Mutation_p.S819I|NAV2_ENST00000527559.2_Missense_Mutation_p.S1740I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1811					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						AGTGCCACCAGCCACTCCAGC	0.587																																					p.S1811I													.	NAV2	255	0			c.G5432T						.						67	61	63					11																	20101694		2203	4300	6503	SO:0001583	missense	89797	exon27			CCACCAGCCACTC	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.5432G>T	11.37:g.20101694G>T	ENSP00000379396:p.Ser1811Ile	27	0		26	4	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	.	.	.	.	.	.	.	.	.	.	G	32	5.166546	0.94768	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	5.71	4.8	0.61643	.	0.000000	0.64402	D	0.000001	D	0.96583	0.8885	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.999;0.999;0.997;0.999	D;D;D;D;D;D	0.69654	0.924;0.949;0.952;0.965;0.965;0.965	D	0.96319	0.9235	9	.	.	.	.	14.2487	0.66004	0.071:0.0:0.929:0.0	.	1755;1811;819;804;1755;1691	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	I	1691;1755;1755;1811;1740;1742;819;804;819;804	ENSP00000353871:S1691I;ENSP00000379394:S1755I;ENSP00000309577:S1755I;ENSP00000379396:S1811I;ENSP00000435395:S1740I;ENSP00000443489:S1742I;ENSP00000437316:S819I;ENSP00000437136:S804I;ENSP00000312169:S819I	.	S	+	2	0	NAV2	20058270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.415000	0.47037	0.557000	0.71058	AGC	.		0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	20101694	G	T	20101694	3	4	34	1	0	0	0	0	1	0	0	0	10222	971	34	3	5471	3	NAV2	11	20101694	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	11349265	20101694	114904822	76	5326											
ZNF408	79797	hgsc.bcm.edu	37	11	46724728	46724728	+	Missense_Mutation	SNP	A	A	C	rs376220307|rs148055528	byFrequency	TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:46724728A>C	ENST00000311764.2	+	4	817	c.587A>C	c.(586-588)gAa>gCa	p.E196A	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTGACAGAAGTGGAGTCT	0.567																																					p.E196A	Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	.											ZNF408,caecum,carcinoma,0,1	ZNF408	0	0			c.A587C						.	A	ALA/GLU,ALA/GLU	4,4398		0,4,2197	46	39	42		563,587	0.5	0.6	11		42	36,8500		10,16,4242	no	missense,missense	ZNF408	NM_001184751.1,NM_024741.2	107,107	10,20,6439	CC,CA,AA		0.4217,0.0909,0.3092	benign,benign	188/713,196/721	46724728	40,12898	2201	4268	6469	SO:0001583	missense	79797	exon4			TGACAGAAGTGGA	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.587A>C	11.37:g.46724728A>C	ENSP00000309606:p.Glu196Ala	15	0		18	2	NM_024741		Missense_Mutation	SNP	ENST00000311764.2	37	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083402	0.55861	9.09E-4	0.004217	ENSG00000175213	ENST00000311764	T	0.10477	2.87	5.66	0.47	0.16747	.	0.900334	0.09183	N	0.837160	T	0.07593	0.0191	L	0.32530	0.975	0.09310	N	1	B;B	0.31680	0.335;0.335	B;B	0.25140	0.058;0.058	T	0.40590	-0.9555	10	0.19590	T	0.45	-0.378	9.3275	0.38001	0.6254:0.0:0.3746:0.0	.	188;196	B4DXY4;Q9H9D4	.;ZN408_HUMAN	A	196	ENSP00000309606:E196A	ENSP00000309606:E196A	E	+	2	0	ZNF408	46681304	0.229000	0.23729	0.610000	0.28997	0.457000	0.32468	-0.129000	0.10515	0.078000	0.16900	0.533000	0.62120	GAA	.		0.567	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		C	46724728	A	C	46724728	3	2	34	1	0	0	0	0	1	0	0	0	17936	246	9	4	633	4	ZNF408	11	46724728	Missense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09	26623034	46724728	88281788	77	5327											
STX3	6809	hgsc.bcm.edu	37	11	59560628	59560628	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:59560628G>A	ENST00000337979.4	+	7	1070	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	STX3_ENST00000535361.1_Missense_Mutation_p.A175T|STX3_ENST00000300150.7_Missense_Mutation_p.A144T|STX3_ENST00000529177.1_Missense_Mutation_p.A175T|STX3_ENST00000437946.2_Missense_Mutation_p.A78T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	175					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TGGCAACCCGGCCATCTTCAC	0.542																																					p.A175T		.											.	.	.	0			c.G523A						.						102	92	95					11																	59560628		2201	4295	6496	SO:0001583	missense	6809	exon7			AACCCGGCCATCT	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.523G>A	11.37:g.59560628G>A	ENSP00000338562:p.Ala175Thr	37	0		45	4	NM_004177	B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967598	0.53507	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.11	5.11	0.69529	t-SNARE (1);	0.101437	0.64402	D	0.000002	T	0.23611	0.0571	M	0.75264	2.295	0.47276	D	0.999376	B;B;B;B	0.26635	0.023;0.026;0.155;0.096	B;B;B;B	0.25614	0.037;0.012;0.062;0.028	T	0.11717	-1.0576	10	0.56958	D	0.05	-8.4395	6.7489	0.23475	0.0897:0.0:0.733:0.1773	.	78;175;175;175	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	T	144;175;175;78;175;127	ENSP00000300150:A144T;ENSP00000338562:A175T;ENSP00000441649:A175T;ENSP00000393536:A78T;ENSP00000433248:A175T;ENSP00000431386:A127T	ENSP00000300150:A144T	A	+	1	0	STX3	59317204	0.957000	0.32711	0.961000	0.40146	0.738000	0.42128	1.542000	0.36137	2.379000	0.81126	0.555000	0.69702	GCC	.		0.542	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		A	59560628	G	A	59560628	3	1	34	1	0	0	0	0	1	0	0	0	15393	1203	42	3	549	3	STX3	11	59560628	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	12835900	59560628	75445888	78	5328											
SDHAF2	54949	hgsc.bcm.edu	37	11	61205106	61205106	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:61205106C>A	ENST00000543265.1	+	2	49	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	SDHAF2_ENST00000537782.1_Missense_Mutation_p.L16M|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Missense_Mutation_p.L16M|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.L4M|SDHAF2_ENST00000301761.2_Missense_Mutation_p.L16M|RP11-286N22.8_ENST00000544880.1_3'UTR					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						GATGCTTGCTCTGTCAAGGCA	0.418																																					p.L16M		.											SDHAF2,colon,carcinoma,-1,1	SDHAF2	-1	0			c.C46A						.						181	179	179					11																	61205106		2202	4299	6501	SO:0001583	missense	54949	exon2			CTTGCTCTGTCAA	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.46C>A	11.37:g.61205106C>A	ENSP00000443660:p.Leu16Met	19	0		26	2	NM_017841		Missense_Mutation	SNP	ENST00000543265.1	37		.	.	.	.	.	.	.	.	.	.	C	13.14	2.149655	0.37923	.	.	ENSG00000256591;ENSG00000167985;ENSG00000167985	ENST00000541135;ENST00000301761;ENST00000543265	T;T;T	0.79653	-1.29;-1.24;-1.25	5.91	-0.0971	0.13634	.	0.763615	0.12824	N	0.436225	T	0.73961	0.3654	M	0.63428	1.95	0.09310	N	1	P	0.38250	0.624	B	0.37091	0.241	T	0.62320	-0.6879	10	0.42905	T	0.14	0.0051	7.4438	0.27198	0.0:0.4535:0.3841:0.1624	.	16	Q9NX18	SDHF2_HUMAN	M	16	ENSP00000443130:L16M;ENSP00000301761:L16M;ENSP00000443660:L16M	ENSP00000440939:L16M	L	+	1	2	SDHAF2;RP11-286N22.8	60961682	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	-0.184000	0.09698	0.073000	0.16731	0.655000	0.94253	CTG	.		0.418	SDHAF2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000398484.1	NM_017841		A	61205106	C	A	61205106	3	1	34	1	0	0	0	0	1	0	0	0	14009	912	32	3	52	3	SDHAF2	11	61205106	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	1644478	61205106	73801410	79	5329											
CTSW	1521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	65647690	65647690	+	Silent	SNP	G	G	A	rs559592357		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:65647690G>A	ENST00000307886.3	+	2	151	c.105G>A	c.(103-105)ccG>ccA	p.P35P	CTSW_ENST00000528419.1_Silent_p.P35P	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	35					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)		GTCCCCAGCCGCTAGAGCTGA	0.577													G|||	1	0.000199681	0	0	5008	,	,		17884	0		0	False		,,,				2504	0.001				p.P35P		.											.	.	.	0			c.G105A						.						71	68	69					11																	65647690		2201	4296	6497	SO:0001819	synonymous_variant	1521	exon2			CCAGCCGCTAGAG	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.105G>A	11.37:g.65647690G>A		96	0		104	30	NM_001335	Q86VT4	Silent	SNP	ENST00000307886.3	37	CCDS8117.1																																																																																			.		0.577	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		A	65647690	G	A	65647690	2	1	34	1	0	0	0	0	0	0	0	1	4051	1074	38	1		1	CTSW	11	65647690	Silent	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	4442584	65647690	69358826	80	5330											
CCDC83	220047	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	85597249	85597249	+	Missense_Mutation	SNP	G	G	T	rs553174518		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:85597249G>T	ENST00000342404.3	+	5	566	c.350G>T	c.(349-351)cGc>cTc	p.R117L	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000280245.4_Missense_Mutation_p.R117L|CCDC83_ENST00000376067.1_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	117								p.R117H(2)|p.R117L(1)		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)				ACAGATATGCGCATGCAAATA	0.333																																					p.R117L		.											CCDC83,NS,carcinoma,0,4	CCDC83	0	3	Substitution - Missense(3)	large_intestine(1)|lung(1)|endometrium(1)	c.G350T						.						61	56	58					11																	85597249		2203	4299	6502	SO:0001583	missense	220047	exon5			ATATGCGCATGCA	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.350G>T	11.37:g.85597249G>T	ENSP00000344512:p.Arg117Leu	67	0		53	4	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.	.	.	.	.	.	.	.	.	.	G	6.306	0.424561	0.11928	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.45668	0.89;0.9	5.26	4.35	0.52113	.	0.261751	0.34110	N	0.004242	T	0.49253	0.1546	M	0.63428	1.95	0.80722	D	1	P;D	0.54964	0.94;0.969	P;P	0.51895	0.593;0.683	T	0.47898	-0.9081	9	.	.	.	-0.2256	11.0699	0.47997	0.088:0.0:0.912:0.0	.	117;117	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	L	117	ENSP00000280245:R117L;ENSP00000344512:R117L	.	R	+	2	0	CCDC83	85274897	0.996000	0.38824	0.891000	0.34965	0.054000	0.15201	1.194000	0.32174	1.200000	0.43188	0.650000	0.86243	CGC	.		0.333	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		T	85597249	G	T	85597249	3	4	34	1	0	0	0	0	1	0	0	0	2864	1087	38	2	364	2	CCDC83	11	85597249	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	19949559	85597249	49409267	81	5331											
TYR	7299	hgsc.bcm.edu	37	11	89017970	89017970	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:89017970G>A	ENST00000263321.5	+	4	1716	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	405			R -> L (in OCA1A). {ECO:0000269|PubMed:15146472}.		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)	CGAAGGCACCGTCCTCTTCAA	0.383																																					p.R405H		.											.	.	.	0			c.G1214A	GRCh37	CM041480	TYR	M		.						65	66	65					11																	89017970		2201	4299	6500	SO:0001583	missense	7299	exon4			GGCACCGTCCTCT	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.1214G>A	11.37:g.89017970G>A	ENSP00000263321:p.Arg405His	93	0		96	5	NM_000372	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069557	0.20147	.	.	ENSG00000077498	ENST00000263321	D	0.98862	-5.19	4.68	-0.449	0.12226	Uncharacterised domain, di-copper centre (2);	0.493212	0.19908	N	0.103354	D	0.95182	0.8438	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.84679	0.0716	9	.	.	.	.	15.3426	0.74309	0.1635:0.0:0.8365:0.0	.	405	P14679	TYRO_HUMAN	H	405	ENSP00000263321:R405H	.	R	+	2	0	TYR	88657618	0.015000	0.18098	0.017000	0.16124	0.879000	0.50718	1.025000	0.30090	-0.284000	0.09102	-1.164000	0.01763	CGT	.		0.383	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		A	89017970	G	A	89017970	3	1	34	1	0	0	0	0	1	0	0	0	16862	1145	40	1	1228	1	TYR	11	89017970	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	3420721	89017970	45988546	82	5332											
MAML2	84441	hgsc.bcm.edu	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					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.Q647Q(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)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q647Q		.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,caecum,carcinoma,0,2	MAML2	0	1	Substitution - coding silent(1)	endometrium(1)	c.G1941A						.	C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGTTGT	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.1941G>A	11.37:g.95825254C>T		44	1		45	2	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			.		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825254	C	T	95825254	2	4	34	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825254	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	6807284	95825254	39181262	83	5333											
CWF19L2	143884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	107325251	107325251	+	Silent	SNP	T	T	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:107325251T>C	ENST00000282251.5	-	3	291	c.264A>G	c.(262-264)aaA>aaG	p.K88K	CWF19L2_ENST00000433523.1_Silent_p.K88K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	88	Lys-rich.						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)		ctttctttgctttttttgaat	0.259																																					p.K88K		.											.	.	.	0			c.A264G						.						190	160	169					11																	107325251		692	1581	2273	SO:0001819	synonymous_variant	143884	exon3			CTTTGCTTTTTTT	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.264A>G	11.37:g.107325251T>C		56	0		43	11	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	CCDS8336.2																																																																																			.		0.259	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		C	107325251	T	C	107325251	2	2	34	1	0	0	0	0	0	0	0	1	4081	1606	56	4		4	CWF19L2	11	107325251	Silent	SNP	T	TCGA-ZH-A8Y8-01A-51D-A417-09	11499997	107325251	27681265	84	5334											
MPZL2	10205	bcgsc.ca	37	11	118133264	118133264	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:118133264G>T	ENST00000278937.2	-	3	453	c.325C>A	c.(325-327)Ctt>Att	p.L109I	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Missense_Mutation_p.L109I	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	109	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)		TTCCAGAGAAGGATGGAGGCA	0.542																																					p.L109I													.	MPZL2	20	0			c.C325A						.						151	111	125					11																	118133264		2200	4296	6496	SO:0001583	missense	10205	exon3			AGAGAAGGATGGA	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.325C>A	11.37:g.118133264G>T	ENSP00000278937:p.Leu109Ile	52	0		46	4	NM_005797	A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.319006	0.10845	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	T;T	0.66815	-0.23;-0.23	5.98	-10.5	0.00291	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.052770	0.07340	N	0.880666	T	0.30135	0.0755	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10291	-1.0636	10	0.18276	T	0.48	.	3.0695	0.06225	0.221:0.1347:0.442:0.2022	.	109	O60487	MPZL2_HUMAN	I	109	ENSP00000278937:L109I;ENSP00000408362:L109I	ENSP00000278937:L109I	L	-	1	0	MPZL2	117638474	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.450000	0.02390	-2.133000	0.00813	-1.591000	0.00844	CTT	.		0.542	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		T	118133264	G	T	118133264	3	4	34	1	0	0	0	0	1	0	0	0	9788	1000	35	3	334	3	MPZL2	11	118133264	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	10808013	118133264	16873252	85	5335											
TRIM29	23650	hgsc.bcm.edu	37	11	120008077	120008077	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr11:120008077C>A	ENST00000341846.5	-	1	1084	c.663G>T	c.(661-663)gaG>gaT	p.E221D		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	221					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)		ACTTGCGGGCCTCAAAGTCCC	0.617																																					p.E221D		.											TRIM29,NS,carcinoma,0,1	TRIM29	0	0			c.G663T						.						55	57	56					11																	120008077		2203	4300	6503	SO:0001583	missense	23650	exon1			GCGGGCCTCAAAG	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.663G>T	11.37:g.120008077C>A	ENSP00000343129:p.Glu221Asp	38	0		28	2	NM_012101	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964729	0.74131	.	.	ENSG00000137699	ENST00000341846	T	0.46063	0.88	5.91	4.99	0.66335	Zinc finger, B-box (3);	0.000000	0.64402	D	0.000001	T	0.48409	0.1498	N	0.25485	0.75	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.29579	-1.0007	9	.	.	.	.	12.3193	0.54975	0.0:0.8403:0.0:0.1597	.	221	Q14134	TRI29_HUMAN	D	221	ENSP00000343129:E221D	.	E	-	3	2	TRIM29	119513287	0.976000	0.34144	1.000000	0.80357	0.998000	0.95712	0.191000	0.17076	2.793000	0.96121	0.655000	0.94253	GAG	.		0.617	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		A	120008077	C	A	120008077	3	1	34	1	0	0	0	0	1	0	0	0	16551	680	24	3	1139	3	TRIM29	11	120008077	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	1874813	120008077	14998439	86	5336											
PRB2	653247	hgsc.bcm.edu	37	12	11546444	11546444	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr12:11546444G>T	ENST00000389362.4	-	3	603	c.568C>A	c.(568-570)Cag>Aag	p.Q190K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	190	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)			CCTTGGGGCTGGTTGCCTCCT	0.597																																					p.Q190K		.											.	.	.	0			c.C568A						.						142	142	142					12																	11546444		2163	4271	6434	SO:0001583	missense	653247	exon3			GGGGCTGGTTGCC	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.568C>A	12.37:g.11546444G>T	ENSP00000374013:p.Gln190Lys	105	1		122	6	NM_006248	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.331	-0.956317	0.02267	.	.	ENSG00000121335	ENST00000389362	T	0.04862	3.54	1.56	0.541	0.17168	.	0.679913	0.10184	U	0.705525	T	0.02848	0.0085	N	0.12182	0.205	0.09310	N	1	B	0.19331	0.035	B	0.06405	0.002	T	0.45411	-0.9263	10	0.02654	T	1	.	7.2338	0.26057	0.0:0.0:0.7355:0.2645	.	190	P02812	PRB2_HUMAN	K	190	ENSP00000374013:Q190K	ENSP00000374013:Q190K	Q	-	1	0	PRB2	11437711	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	-2.656000	0.00854	-0.031000	0.13781	-1.143000	0.01870	CAG	.		0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546444	G	T	11546444	3	4	34	1	0	0	0	0	1	0	0	0	12485	1357	47	3	686	3	PRB2	12	11546444	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		11546444	122305451	87	5337											
PIK3C2G	5288	hgsc.bcm.edu	37	12	18524178	18524178	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr12:18524178G>T	ENST00000266497.5	+	11	1728	c.1690G>T	c.(1690-1692)Ggg>Tgg	p.G564W	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G605W|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.G564W			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	564	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)				AAAACTGTTTGGGATTGCCTG	0.393																																					p.G564W		.											.,2	.	315	0			c.G1690T						.						96	97	97					12																	18524178		1854	4095	5949	SO:0001583	missense	5288	exon12			CTGTTTGGGATTG	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.1690G>T	12.37:g.18524178G>T	ENSP00000266497:p.Gly564Trp	55	0		40	2	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305440	0.60305	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.77877	-1.13;-1.13;-1.13	4.01	4.01	0.46588	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.240653	0.29246	N	0.012713	D	0.87063	0.6084	M	0.80422	2.495	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88165	0.2860	10	0.87932	D	0	-12.712	11.9244	0.52810	0.0:0.0:1.0:0.0	.	604;605;564	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	W	564;564;605	ENSP00000404845:G564W;ENSP00000266497:G564W;ENSP00000445381:G605W	ENSP00000266497:G564W	G	+	1	0	PIK3C2G	18415445	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.770000	0.62309	2.520000	0.84964	0.563000	0.77884	GGG	.		0.393	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18524178	G	T	18524178	3	4	34	1	0	0	0	0	1	0	0	0	11950	1348	47	3	1732	3	PIK3C2G	12	18524178	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	6977734	18524178	115327717	88	5338											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	25380277	25380278	+	Missense_Mutation	DNP	GA	GA	TT	rs121913238|rs397517037		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	GA	GA	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr12:25380277_25380278GA>TT	ENST00000256078.4	-	3	243_244	c.180_181TC>AA	c.(178-183)ggTCaa>ggAAaa	p.Q61K	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.Q61K(32)|p.Q61E(10)|p.G60G(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)			TACTCCTCTTGACCTGCTGTGT	0.411	Q61K(CALU6_LUNG)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.Q61K	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	.		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,caecum,carcinoma,0,10	KRAS_ENST00000256078	0	43	Substitution - Missense(42)|Substitution - coding silent(1)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(3)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	c.T180A						.																																			SO:0001583	missense	3845	exon3	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	CTCTTGACCTGCT	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.180_181delinsTT	12.37:g.25380277_25380278delinsTT	ENSP00000256078:p.Gln61Lys	39	0		40	8	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	DNP	ENST00000256078.4	37	CCDS8703.1																																																																																			.		0.411	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		TT	25380278	GA	TT	25380277	3	4	34	1	0	0	0	0	1	0	0	0	8465	1299	45	3	521	3	KRAS	12	25380277	Missense_Mutation	DNP	GA	TCGA-ZH-A8Y8-01A-51D-A417-09	6856099	25380277	108471618	89	5339											
WNT10B	7480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	49360090	49360090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr12:49360090G>A	ENST00000301061.4	-	5	1306	c.958C>T	c.(958-960)Cga>Tga	p.R320*	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	320					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R320G(1)|p.R320*(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTGGGGTCTCGCTCACAGAAG	0.632																																					p.R320X		.											WNT10B,NS,carcinoma,0,2	WNT10B	0	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|prostate(1)	c.C958T						.						37	43	41					12																	49360090		2203	4300	6503	SO:0001587	stop_gained	7480	exon5			GGTCTCGCTCACA	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"Wingless-type MMTV integration sites"	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.958C>T	12.37:g.49360090G>A	ENSP00000301061:p.Arg320*	124	0		104	21	NM_003394	B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Nonsense_Mutation	SNP	ENST00000301061.4	37	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733131	0.97796	.	.	ENSG00000169884	ENST00000301061	.	.	.	4.43	2.55	0.30701	.	0.167445	0.38837	N	0.001546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2219	0.15373	0.1683:0.0:0.651:0.1807	.	.	.	.	X	320	.	ENSP00000301061:R320X	R	-	1	2	WNT10B	47646357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.152000	0.50677	1.212000	0.43366	0.561000	0.74099	CGA	.		0.632	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		A	49360090	G	A	49360090	4	1	34	1	0	0	0	0	0	1	0	0	17432	1095	38	1	215	1	WNT10B	12	49360090	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	23979813	49360090	84491805	90	5340											
EP400	57634	hgsc.bcm.edu;bcgsc.ca	37	12	132475225	132475225	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr12:132475225G>T	ENST00000333577.4	+	10	2812	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N	EP400_ENST00000332482.4_Missense_Mutation_p.K828N|EP400_ENST00000330386.6_Missense_Mutation_p.K865N|EP400_ENST00000389562.2_Missense_Mutation_p.K864N|EP400_ENST00000389561.2_Missense_Mutation_p.K865N			Q96L91	EP400_HUMAN	E1A binding protein p400	901					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)		AAAAAAGGAAGAAGGCCTTAA	0.373																																					p.K865N		.											.	.	.	0			c.G2595T						.						72	79	77					12																	132475225		2203	4300	6503	SO:0001583	missense	57634	exon9			AAGGAAGAAGGCC	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.2703G>T	12.37:g.132475225G>T	ENSP00000333602:p.Lys901Asn	122	0		82	4	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	10.85	1.465567	0.26335	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93763	-3.21;-3.22;-3.23;-3.28;-3.2	5.08	-1.47	0.08772	.	0.148491	0.53938	D	0.000047	D	0.94644	0.8273	M	0.78456	2.415	0.34448	D	0.700374	D;D;D;D;P	0.63046	0.977;0.977;0.977;0.992;0.928	P;P;P;P;P	0.61397	0.787;0.787;0.787;0.888;0.626	D	0.93996	0.7271	9	.	.	.	.	10.4105	0.44289	0.6068:0.0:0.3932:0.0	.	865;865;864;901;828	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	N	901;865;864;828;865;901;865;865	ENSP00000333602:K901N;ENSP00000374212:K865N;ENSP00000374213:K864N;ENSP00000331737:K828N;ENSP00000330620:K865N	.	K	+	3	2	EP400	131041178	0.895000	0.30542	0.954000	0.39281	0.816000	0.46133	-0.019000	0.12546	-0.176000	0.10707	-0.378000	0.06908	AAG	.		0.373	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132475225	G	T	132475225	3	4	34	1	0	0	0	0	1	0	0	0	5165	933	33	3	2622	3	EP400	12	132475225	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	83115135	132475225	1376670	91	5341											
NUFIP1	26747	hgsc.bcm.edu	37	13	45563441	45563441	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr13:45563441G>A	ENST00000379161.4	-	1	177	c.131C>T	c.(130-132)cCg>cTg	p.P44L	GPALPP1_ENST00000361121.2_5'Flank|GPALPP1_ENST00000379151.4_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	44	Pro-rich.				box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TGGCGGTGGCGGCAGCATTGC	0.682																																					p.P44L		.											.	.	.	0			c.C131T						.						16	19	18					13																	45563441		2186	4278	6464	SO:0001583	missense	26747	exon1			GGTGGCGGCAGCA	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.131C>T	13.37:g.45563441G>A	ENSP00000368459:p.Pro44Leu	66	0		53	4	NM_012345	Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172441	0.57584	.	.	ENSG00000083635	ENST00000379161	T	0.59906	0.23	4.82	4.82	0.62117	.	0.343474	0.21467	N	0.074069	T	0.40498	0.1119	L	0.34521	1.04	0.21220	N	0.99976	D	0.54207	0.965	B	0.39068	0.289	T	0.36841	-0.9731	10	0.07813	T	0.8	-0.609	13.2754	0.60184	0.0:0.0:1.0:0.0	.	44	Q9UHK0	NUFP1_HUMAN	L	44	ENSP00000368459:P44L	ENSP00000368459:P44L	P	-	2	0	NUFIP1	44461441	0.835000	0.29415	0.267000	0.24556	0.047000	0.14425	1.847000	0.39299	2.497000	0.84241	0.563000	0.77884	CCG	.		0.682	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		A	45563441	G	A	45563441	3	1	34	1	0	0	0	0	1	0	0	0	10787	1116	39	1	1396	1	NUFIP1	13	45563441	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		45563441	69606437	92	5342											
ACIN1	22985	hgsc.bcm.edu;ucsc.edu	37	14	23549704	23549704	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr14:23549704C>A	ENST00000262710.1	-	6	1341	c.1014G>T	c.(1012-1014)ggG>ggT	p.G338G	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.G338G|ACIN1_ENST00000457657.1_Silent_p.G298G|ACIN1_ENST00000605057.1_Silent_p.G280G	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	338	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)		TTGTAAATCTCCCTCCTCTCT	0.468																																					p.G338G		.											ACIN1,caecum,carcinoma,0,1	ACIN1	0	0			c.G1014T						.						169	142	151					14																	23549704		2203	4300	6503	SO:0001819	synonymous_variant	22985	exon6			AAATCTCCCTCCT	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.1014G>T	14.37:g.23549704C>A		72	0		41	4	NM_001164814	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																			.		0.468	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		A	23549704	C	A	23549704	2	1	34	1	0	0	0	0	0	0	0	1	142	842	30	3		3	ACIN1	14	23549704	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09		23549704	83799836	93	5343											
FITM1	161247	hgsc.bcm.edu	37	14	24600887	24600887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr14:24600887G>T	ENST00000267426.5	+	1	404	c.115G>T	c.(115-117)Gga>Tga	p.G39*	RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.W226L|FITM1_ENST00000559294.1_5'Flank	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	39					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.G39R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGTACTTTGGAAGCGAACA	0.667																																					p.G39X		.											FITM1,face,carcinoma,0,1	FITM1	0	1	Substitution - Missense(1)	skin(1)	c.G115T						.						39	43	42					14																	24600887		2203	4300	6503	SO:0001587	stop_gained	161247	exon1			TACTTTGGAAGCG		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"fat-inducing transcript 1"	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.115G>T	14.37:g.24600887G>T	ENSP00000267426:p.Gly39*	69	0		46	2	NM_203402	Q8IUQ7	Nonsense_Mutation	SNP	ENST00000267426.5	37	CCDS9611.1	.	.	.	.	.	.	.	.	.	.	g	35	5.506917	0.96386	.	.	ENSG00000139914	ENST00000267426	.	.	.	4.7	4.7	0.59300	.	0.273852	0.31450	N	0.007631	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.0489	13.0257	0.58814	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000267426:G39X	G	+	1	0	FITM1	23670727	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.223000	0.42936	2.426000	0.82243	0.462000	0.41574	GGA	.		0.667	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		T	24600887	G	T	24600887	4	4	34	1	0	0	0	0	0	1	0	0	5920	1349	47	3	117	3	FITM1	14	24600887	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	1051183	24600887	82748653	94	5344											
CCDC88C	440193	broad.mit.edu	37	14	91744298	91744298	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr14:91744298G>T	ENST00000389857.6	-	29	5112	c.5026C>A	c.(5026-5028)Ctg>Atg	p.L1676M	CCDC88C_ENST00000331194.7_Missense_Mutation_p.L200M	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1676					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)				CTCTCCTCCAGGAACTCCTCC	0.632																																					p.L1676M													.	CCDC88C	192	0			c.C5026A						.						11	14	13					14																	91744298		1996	4151	6147	SO:0001583	missense	440193	exon29			CCTCCAGGAACTC		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.5026C>A	14.37:g.91744298G>T	ENSP00000374507:p.Leu1676Met	72	0		38	3	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586697	0.66105	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.74632	0.56;-0.86	5.55	1.08	0.20341	.	0.000000	0.37669	U	0.001988	D	0.82518	0.5054	M	0.70275	2.135	0.41248	D	0.986697	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.995	T	0.81495	-0.0907	10	0.54805	T	0.06	-17.2914	10.9064	0.47081	0.411:0.0:0.589:0.0	.	1676;200;126	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	M	1676;200;200	ENSP00000374507:L1676M;ENSP00000330332:L200M	ENSP00000330332:L200M	L	-	1	2	CCDC88C	90814051	0.999000	0.42202	0.943000	0.38184	0.936000	0.57629	1.906000	0.39887	0.294000	0.22547	0.462000	0.41574	CTG	.		0.632	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		T	91744298	G	T	91744298	3	4	34	1	0	0	0	0	1	0	0	0	2872	991	35	3	1068	3	CCDC88C	14	91744298	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	67143411	91744298	15605242	95	5345											
INF2	64423	hgsc.bcm.edu	37	14	105180791	105180791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr14:105180791G>T	ENST00000392634.4	+	21	3404	c.3292G>T	c.(3292-3294)Gag>Tag	p.E1098*	INF2_ENST00000330634.7_Nonsense_Mutation_p.E1098*	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1098					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)		CCAGCCCTTGGAGGGGGCCTG	0.642																																					p.E1098X		.											.	.	.	0			c.G3292T						.						25	33	30					14																	105180791		1926	4116	6042	SO:0001587	stop_gained	64423	exon21			CCCTTGGAGGGGG	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.3292G>T	14.37:g.105180791G>T	ENSP00000376410:p.Glu1098*	77	0		54	4	NM_022489	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Nonsense_Mutation	SNP	ENST00000392634.4	37	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	G	40	7.938860	0.98571	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	.	.	.	3.7	-0.548	0.11833	.	1.274440	0.06129	U	0.670342	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	4.1092	0.10052	0.2339:0.3851:0.381:0.0	.	.	.	.	X	1098	.	ENSP00000252527:E566X	E	+	1	0	INF2	104251836	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	0.637000	0.24659	0.009000	0.14813	0.491000	0.48974	GAG	.		0.642	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		T	105180791	G	T	105180791	4	4	34	1	0	0	0	0	0	1	0	0	7761	1175	41	3	3374	3	INF2	14	105180791	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	13436493	105180791	2168749	96	5346											
RYR3	6263	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	33923424	33923424	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr15:33923424C>A	ENST00000389232.4	+	23	2867	c.2797C>A	c.(2797-2799)Ctg>Atg	p.L933M	RYR3_ENST00000415757.3_Missense_Mutation_p.L933M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	933	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)		CCTCTTGGCCCTGGGGTGCCA	0.448																																					p.L933M		.											.	.	.	0			c.C2797A						.						79	77	78					15																	33923424		1895	4116	6011	SO:0001583	missense	6263	exon23			TTGGCCCTGGGGT		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.2797C>A	15.37:g.33923424C>A	ENSP00000373884:p.Leu933Met	34	0		44	4	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203675	0.58234	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91996	-2.95;-2.95	5.09	2.01	0.26516	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000013	D	0.94108	0.8111	M	0.66297	2.02	0.44104	D	0.996875	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.977	D	0.92211	0.5776	10	0.59425	D	0.04	.	8.9467	0.35762	0.0:0.7432:0.0:0.2568	.	933;933	Q15413-2;Q15413	.;RYR3_HUMAN	M	933	ENSP00000373884:L933M;ENSP00000399610:L933M	ENSP00000354735:L933M	L	+	1	2	RYR3	31710716	0.992000	0.36948	0.980000	0.43619	0.941000	0.58515	2.022000	0.41030	0.248000	0.21435	0.563000	0.77884	CTG	.		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33923424	C	A	33923424	3	1	34	1	0	0	0	0	1	0	0	0	13815	680	24	3	2887	3	RYR3	15	33923424	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09		33923424	68607968	97	5347											
TP53BP1	7158	hgsc.bcm.edu	37	15	43766909	43766910	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr15:43766909_43766910insT	ENST00000263801.3	-	10	1378_1379	c.1126_1127insA	c.(1126-1128)atcfs	p.I376fs	TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.I381fs|TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.I381fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.I381fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	376					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)		GCTAGGAACGATAAAAGGAGTA	0.426								Other conserved DNA damage response genes																													p.I381fs		.											.	.	.	0			c.1142_1143insA						.																																			SO:0001589	frameshift_variant	7158	exon10			GGAACGATAAAAG	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.1127dupA	15.37:g.43766910_43766910dupT	ENSP00000263801:p.Ile376fs	30	0		41	10	NM_001141979	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Ins	INS	ENST00000263801.3	37	CCDS10096.1																																																																																			.		0.426	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			T	43766910	-	T	43766909	7	5	34	1	0	1	1	0	0	0	0	0	16431	333	12	0	4867	0	TP53BP1	15	43766909	Frame_Shift_Ins	INS	-	TCGA-ZH-A8Y8-01A-51D-A417-09	9843485	43766909	58764483	98	5348											
SHC4	399694	hgsc.bcm.edu	37	15	49255141	49255141	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr15:49255141C>T	ENST00000332408.4	-	1	500	c.72G>A	c.(70-72)atG>atA	p.M24I		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	24	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.M24I(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CCCTGTGCAGCATCCCGGGGT	0.622																																					p.M24I		.											SHC4,NS,carcinoma,0,1	SHC4	0	1	Substitution - Missense(1)	lung(1)	c.G72A						.						73	79	77					15																	49255141		2195	4294	6489	SO:0001583	missense	399694	exon1			GTGCAGCATCCCG	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.72G>A	15.37:g.49255141C>T	ENSP00000329668:p.Met24Ile	50	0		59	3	NM_203349	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557075	0.86231	.	.	ENSG00000185634	ENST00000332408	T	0.07567	3.18	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.27241	0.0668	M	0.64404	1.975	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.01290	-1.1394	10	0.72032	D	0.01	1.5243	17.3133	0.87215	0.0:1.0:0.0:0.0	.	24	Q6S5L8	SHC4_HUMAN	I	24	ENSP00000329668:M24I	ENSP00000329668:M24I	M	-	3	0	SHC4	47042433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.466000	0.73543	2.401000	0.81631	0.655000	0.94253	ATG	.		0.622	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		T	49255141	C	T	49255141	3	4	34	1	0	0	0	0	1	0	0	0	14318	710	25	3	1868	3	SHC4	15	49255141	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	5488232	49255141	53276251	99	5349											
SPG21	51324	hgsc.bcm.edu	37	15	65267060	65267060	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr15:65267060C>A	ENST00000204566.2	-	5	627	c.332G>T	c.(331-333)gGa>gTa	p.G111V	SPG21_ENST00000416889.2_Missense_Mutation_p.G84V|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.G111V	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	111					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CAAAAAGCCTCCCAAAGAAGC	0.378																																					p.G111V		.											.	.	.	0			c.G332T						.						84	89	87					15																	65267060		2202	4299	6501	SO:0001583	missense	51324	exon5			AAGCCTCCCAAAG	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.332G>T	15.37:g.65267060C>A	ENSP00000204566:p.Gly111Val	71	0		85	4	NM_001127889	B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100273	0.94245	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	D;D;D	0.87491	-2.25;-2.26;-2.25	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.96039	0.9023	10	0.87932	D	0	-16.6071	19.4236	0.94732	0.0:1.0:0.0:0.0	.	84;111	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	V	111;84;111	ENSP00000204566:G111V;ENSP00000394846:G84V;ENSP00000404111:G111V	ENSP00000204566:G111V	G	-	2	0	SPG21	63054113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.937000	0.99478	0.650000	0.86243	GGA	.		0.378	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		A	65267060	C	A	65267060	3	1	34	1	0	0	0	0	1	0	0	0	15090	855	30	3	614	3	SPG21	15	65267060	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	16011919	65267060	37264332	100	5350											
C15orf42	90381	ucsc.edu;bcgsc.ca	37	15	90138623	90138623	+	Splice_Site	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr15:90138623G>T	ENST00000268138.7	+	7	1786		c.e7-1		TICRR_ENST00000560985.1_Splice_Site			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						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)										TGTTTTGGTAGGAGGGGTCCC	0.418																																					.													.	.	.	0			c.1682-1G>T						.						88	79	81					15																	90138623		1896	4119	6015	SO:0001630	splice_region_variant	90381	exon7			TTGGTAGGAGGGG	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.1682-1G>T	15.37:g.90138623G>T		36	0		40	4	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	36	5.802370	0.96960	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87939627	1.000000	0.71417	0.799000	0.32177	0.892000	0.51952	9.153000	0.94687	2.746000	0.94184	0.655000	0.94253	.	.		0.418	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	T	90138623	G	T	90138623	5	4	34	1	0	0	0	0	0	0	1	0	1801	1014	35	3	1707	3	C15orf42	15	90138623	Splice_Site	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	24871563	90138623	12392769	101	5351											
GRIN2A	2903	bcgsc.ca	37	16	9943747	9943747	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr16:9943747G>T	ENST00000396573.2	-	6	1503	c.1194C>A	c.(1192-1194)gaC>gaA	p.D398E	GRIN2A_ENST00000330684.3_Missense_Mutation_p.D398E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D398E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D398E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D241E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D398E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	398					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)	CCGGCTCACAGTCGGAGAAGG	0.582																																					p.D398E													.	GRIN2A	366	0			c.C1194A						.						143	117	125					16																	9943747		2197	4300	6497	SO:0001583	missense	2903	exon6			CTCACAGTCGGAG		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.1194C>A	16.37:g.9943747G>T	ENSP00000379818:p.Asp398Glu	25	0		36	4	NM_000833	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127279	0.56721	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.22	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.11239	0.0274	L	0.55743	1.74	0.46981	D	0.999276	B;B;P	0.51057	0.291;0.349;0.941	B;B;B	0.43754	0.144;0.068;0.43	T	0.04885	-1.0920	9	.	.	.	.	13.2853	0.60239	0.0779:0.0:0.9221:0.0	.	241;398;398	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	E	398;398;241;398;398	ENSP00000379818:D398E;ENSP00000385872:D398E;ENSP00000441572:D241E;ENSP00000332549:D398E;ENSP00000379820:D398E	.	D	-	3	2	GRIN2A	9851248	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.550000	0.45811	2.430000	0.82344	0.655000	0.94253	GAC	.		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9943747	G	T	9943747	3	4	34	1	0	0	0	0	1	0	0	0	6806	1020	36	3	3236	3	GRIN2A	16	9943747	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		9943747	80411006	102	5352											
CDH1	999	hgsc.bcm.edu	37	16	68835581	68835581	+	Missense_Mutation	SNP	G	G	C			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr16:68835581G>C	ENST00000261769.5	+	3	363	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q	CDH1_ENST00000422392.2_Missense_Mutation_p.E58Q|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	58					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.?(2)|p.E58*(1)		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)		AGTGAATTTTGAAGATTGCAC	0.463			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																												p.E58Q		.	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	CDH1,caecum,carcinoma,-2,1	CDH1	-2	3	Unknown(2)|Substitution - Nonsense(1)	breast(3)	c.G172C						.						135	130	132					16																	68835581		2198	4300	6498	SO:0001583	missense	999	exon3	Familial Cancer Database	HDGC	AATTTTGAAGATT	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.172G>C	16.37:g.68835581G>C	ENSP00000261769:p.Glu58Gln	43	0		48	2	NM_004360	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520722	0.64747	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.48522	0.81;0.81	5.43	5.43	0.79202	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.49916	D	0.000125	T	0.59348	0.2187	M	0.61703	1.905	0.25390	N	0.988538	D;P	0.58970	0.984;0.942	P;P	0.61533	0.89;0.772	T	0.52719	-0.8538	10	0.21014	T	0.42	.	12.5116	0.56009	0.0811:0.0:0.9189:0.0	.	58;58	Q9UII8;P12830	.;CADH1_HUMAN	Q	58	ENSP00000261769:E58Q;ENSP00000414946:E58Q	ENSP00000261769:E58Q	E	+	1	0	CDH1	67393082	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.035000	0.41155	2.707000	0.92482	0.561000	0.74099	GAA	.		0.463	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		C	68835581	G	C	68835581	3	2	34	1	0	0	0	0	1	0	0	0	3102	1291	45	5	182	5	CDH1	16	68835581	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	58891834	68835581	21519172	103	5353											
ATP2A3	489	bcgsc.ca	37	17	3832041	3832041	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr17:3832041G>T	ENST00000352011.3	-	20	2950	c.2896C>A	c.(2896-2898)Cag>Aag	p.Q966K	ATP2A3_ENST00000397035.3_Missense_Mutation_p.Q966K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.Q966K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.Q966K|ATP2A3_ENST00000397039.1_Missense_Mutation_p.Q150K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.Q966K|ATP2A3_ENST00000309890.7_Missense_Mutation_p.Q966K			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	966					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)		ACCACCCACTGGCGCCCGCTC	0.627																																					p.Q966K	GBM(32;29 774 15719 37967)												.	ATP2A3	148	0			c.C2896A						.						22	16	18					17																	3832041		2166	4222	6388	SO:0001583	missense	489	exon20			CCCACTGGCGCCC		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.2896C>A	17.37:g.3832041G>T	ENSP00000301387:p.Gln966Lys	51	0		56	4	NM_174956	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089805	0.76756	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	3.96	2.98	0.34508	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.135202	0.53938	D	0.000057	D	0.94614	0.8264	M	0.88450	2.955	0.58432	D	0.999995	D;D;B;B;B;B;B	0.89917	1.0;0.99;0.136;0.165;0.136;0.136;0.136	D;D;B;B;B;B;B	0.91635	0.999;0.984;0.128;0.202;0.128;0.128;0.128	D	0.95197	0.8313	10	0.87932	D	0	.	12.9171	0.58213	0.0:0.0:0.836:0.164	.	75;966;966;966;966;966;966	Q6JHX1;Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;.;AT2A3_HUMAN;.;.;.	K	966;150;966;966;966;966;966;966	ENSP00000380236:Q966K;ENSP00000380232:Q150K;ENSP00000301387:Q966K;ENSP00000353072:Q966K;ENSP00000380234:Q966K;ENSP00000312577:Q966K;ENSP00000380229:Q966K	ENSP00000312577:Q966K	Q	-	1	0	ATP2A3	3778790	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.687000	0.84139	1.244000	0.43870	-0.182000	0.12963	CAG	.		0.627	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		T	3832041	G	T	3832041	3	4	34	1	0	0	0	0	1	0	0	0	1139	1357	47	3	322	3	ATP2A3	17	3832041	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		3832041	77363169	104	5354											
CLDN7	1366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7164180	7164180	+	Silent	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr17:7164180G>A	ENST00000360325.7	-	2	782	c.348C>T	c.(346-348)gcC>gcT	p.A116A	CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000571881.2_Missense_Mutation_p.P108S|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Silent_p.A116A|CLDN7_ENST00000538261.3_Silent_p.A116A	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	116					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|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)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TGGCTATACGGGCCTTCTTCA	0.602																																					p.A116A		.											.	.	.	0			c.C348T						.						136	112	120					17																	7164180		2203	4300	6503	SO:0001819	synonymous_variant	1366	exon2			TATACGGGCCTTC	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"Claudins"	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.348C>T	17.37:g.7164180G>A		62	0		44	14	NM_001185023	B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	CCDS11096.1																																																																																			.		0.602	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		A	7164180	G	A	7164180	2	1	34	1	0	0	0	0	0	0	0	1	3497	1219	43	3		3	CLDN7	17	7164180	Silent	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	3332139	7164180	74031030	105	5355											
KRBA2	124751	hgsc.bcm.edu	37	17	8274670	8274670	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr17:8274670G>T	ENST00000331336.2	-	1	188	c.183C>A	c.(181-183)taC>taA	p.Y61*	RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	61	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						TTGTGTCTCTGTAGCAATCCT	0.438																																					p.Y61X		.											.	.	.	0			c.C183A						.						141	140	140					17																	8274670		2203	4300	6503	SO:0001587	stop_gained	124751	exon1			GTCTCTGTAGCAA	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.183C>A	17.37:g.8274670G>T	ENSP00000328017:p.Tyr61*	70	0		76	3	NM_213597	Q8IYY0	Nonsense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448682	0.26074	.	.	ENSG00000184619	ENST00000331336	.	.	.	2.21	0.068	0.14368	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.532	0.12010	0.0:0.2505:0.4929:0.2566	.	.	.	.	X	61	.	ENSP00000328017:Y61X	Y	-	3	2	KRBA2	8215395	0.170000	0.23016	0.006000	0.13384	0.026000	0.11368	3.013000	0.49582	0.051000	0.15978	-0.304000	0.09214	TAC	.		0.438	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		T	8274670	G	T	8274670	4	4	34	1	0	0	0	0	0	1	0	0	8467	1372	48	3	1303	3	KRBA2	17	8274670	Nonsense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	1110490	8274670	72920540	106	5356											
RICH2	9912	hgsc.bcm.edu	37	17	12852466	12852466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr17:12852466C>T	ENST00000379672.5	+	11	1171	c.871C>T	c.(871-873)Cga>Tga	p.R291*	ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.R291*|ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.R291*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	291	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)	p.R291*(1)		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						GGGACTCTTCCGAGTAGCCCC	0.577																																					p.R291X		.											ARHGAP44,extremity,malignant_melanoma,0,1	ARHGAP44	0	1	Substitution - Nonsense(1)	skin(1)	c.C871T						.						29	30	30					17																	12852466		2084	4198	6282	SO:0001587	stop_gained	9912	exon11			CTCTTCCGAGTAG		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.871C>T	17.37:g.12852466C>T	ENSP00000368994:p.Arg291*	41	0		52	3	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Nonsense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	38	7.276385	0.98182	.	.	ENSG00000006740	ENST00000379672;ENST00000340825;ENST00000538915	.	.	.	5.74	4.7	0.59300	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0798	0.72106	0.1514:0.8486:0.0:0.0	.	.	.	.	X	291;291;14	.	ENSP00000342566:R291X	R	+	1	2	ARHGAP44	12793191	0.988000	0.35896	1.000000	0.80357	0.960000	0.62799	0.388000	0.20735	2.718000	0.92993	0.637000	0.83480	CGA	.		0.577	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		T	12852466	C	T	12852466	4	4	34	1	0	0	0	0	0	1	0	0	13402	644	23	1	913	1	RICH2	17	12852466	Nonsense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	4577796	12852466	68342744	107	5357											
ENGASE	64772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	77073889	77073889	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr17:77073889G>A	ENST00000579016.1	+	3	359	c.359G>A	c.(358-360)aGc>aAc	p.S120N	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	120						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						CCTCTGAGCAGCCAGAGGCCC	0.587																																					p.S120N		.											.	.	.	0			c.G359A						.						38	40	40					17																	77073889		1922	4129	6051	SO:0001583	missense	64772	exon3			TGAGCAGCCAGAG	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.359G>A	17.37:g.77073889G>A	ENSP00000462333:p.Ser120Asn	20	0		26	8	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233548	0.39498	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	3.91	0.45181	.	0.126919	0.64402	D	0.000001	T	0.54806	0.1881	M	0.68593	2.085	0.80722	D	1	P;B	0.37781	0.608;0.232	B;B	0.35550	0.205;0.113	T	0.62201	-0.6904	9	0.46703	T	0.11	-16.7758	14.5977	0.68419	0.0:0.0:0.8537:0.1463	.	120;120	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	N	120	.	ENSP00000308158:S120N	S	+	2	0	ENGASE	74585484	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	3.425000	0.52771	2.260000	0.74910	0.563000	0.77884	AGC	.		0.587	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		A	77073889	G	A	77073889	3	1	34	1	0	0	0	0	1	0	0	0	5134	971	34	3	369	3	ENGASE	17	77073889	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	64221423	77073889	4121321	108	5358											
EMILIN2	84034	broad.mit.edu	37	18	2884988	2884988	+	Missense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr18:2884988A>T	ENST00000254528.3	+	3	443	c.284A>T	c.(283-285)tAt>tTt	p.Y95F		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	95	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGACCTAGATATGTCACTAGG	0.502																																					p.Y95F													.	EMILIN2	97	0			c.A284T						.						117	101	106					18																	2884988		2203	4300	6503	SO:0001583	missense	84034	exon3			CTAGATATGTCAC	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.284A>T	18.37:g.2884988A>T	ENSP00000254528:p.Tyr95Phe	70	0		52	5	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517604	0.64634	.	.	ENSG00000132205	ENST00000254528	T	0.60040	0.22	5.83	4.65	0.58169	EMI domain (2);	0.089336	0.48767	N	0.000179	T	0.68997	0.3062	M	0.84433	2.695	0.47819	D	0.999524	P	0.50066	0.931	P	0.50825	0.651	T	0.71293	-0.4636	10	0.44086	T	0.13	-15.0753	11.9981	0.53214	0.8666:0.0:0.0:0.1334	.	95	Q9BXX0	EMIL2_HUMAN	F	95	ENSP00000254528:Y95F	ENSP00000254528:Y95F	Y	+	2	0	EMILIN2	2874988	1.000000	0.71417	0.085000	0.20634	0.707000	0.40811	5.616000	0.67709	0.989000	0.38761	0.528000	0.53228	TAT	.		0.502	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		T	2884988	A	T	2884988	3	4	34	1	0	0	0	0	1	0	0	0	5110	449	16	5	294	5	EMILIN2	18	2884988	Missense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09		2884988	75192260	109	5359											
ANKRD30B	374860	hgsc.bcm.edu	37	18	14757844	14757844	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr18:14757844C>T	ENST00000358984.4	+	5	828	c.648C>T	c.(646-648)ggC>ggT	p.G216G	RNU6-1210P_ENST00000363775.1_RNA|ANKRD30B_ENST00000447268.2_Silent_p.G216G|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	216										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TATGTGAAGGCTCATCAGAGA	0.393																																					p.G216G		.											ANKRD30B_ENST00000358984,NS,carcinoma,0,2	ANKRD30B_ENST00000358984	0	0			c.C648T						.						104	82	89					18																	14757844		692	1591	2283	SO:0001819	synonymous_variant	374860	exon5			TGAAGGCTCATCA	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.648C>T	18.37:g.14757844C>T		75	0		57	2	NM_001145029	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.		0.393	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		T	14757844	C	T	14757844	2	4	34	1	0	0	0	0	0	0	0	1	659	784	28	3		3	ANKRD30B	18	14757844	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	11872856	14757844	63319404	110	5360											
ZNF521	25925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	22669523	22669523	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr18:22669523A>T	ENST00000361524.3	-	7	3960	c.3812T>A	c.(3811-3813)tTg>tAg	p.L1271*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.L1271*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.L1051*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1271					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)					ATGCTGCTGCAACTTGTTTGC	0.398			T	PAX5	ALL																																p.L1271X		.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	.	0			c.T3812A						.						162	149	154					18																	22669523		2203	4300	6503	SO:0001587	stop_gained	25925	exon7			TGCTGCAACTTGT	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.3812T>A	18.37:g.22669523A>T	ENSP00000354794:p.Leu1271*	58	0		49	9	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	43	10.266585	0.99371	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	5.79	5.79	0.91817	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3933	16.1088	0.81244	1.0:0.0:0.0:0.0	.	.	.	.	X	1271;1305;1271	.	ENSP00000354794:L1271X	L	-	2	0	ZNF521	20923521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.957000	0.93082	2.186000	0.69663	0.528000	0.53228	TTG	.		0.398	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22669523	A	T	22669523	4	4	34	1	0	0	0	0	0	1	0	0	18013	131	5	5	131	5	ZNF521	18	22669523	Nonsense_Mutation	SNP	A	TCGA-ZH-A8Y8-01A-51D-A417-09	7911679	22669523	55407725	111	5361											
PHLPP1	23239	hgsc.bcm.edu	37	18	60612431	60612431	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr18:60612431G>A	ENST00000262719.5	+	12	3485	c.3251G>A	c.(3250-3252)cGc>cAc	p.R1084H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R572H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1084					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)	p.R571P(1)		endometrium(2)|kidney(2)|lung(13)	17						AATTGCAGGCGCATGCACACC	0.433																																					p.R1084H		.											PHLPP,NS,carcinoma,0,1	PHLPP	0	1	Substitution - Missense(1)	lung(1)	c.G3251A						.						90	86	87					18																	60612431		1956	4156	6112	SO:0001583	missense	23239	exon12			GCAGGCGCATGCA	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.3251G>A	18.37:g.60612431G>A	ENSP00000262719:p.Arg1084His	34	0		47	2	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713180	0.89112	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.18810	2.19;2.19	4.8	4.8	0.61643	.	.	.	.	.	T	0.41673	0.1169	L	0.53249	1.67	0.52501	D	0.999952	D	0.89917	1.0	D	0.73708	0.981	T	0.04693	-1.0933	9	0.29301	T	0.29	-10.5664	18.4074	0.90541	0.0:0.0:1.0:0.0	.	1084	O60346	PHLP1_HUMAN	H	572;1084	ENSP00000383170:R572H;ENSP00000262719:R1084H	ENSP00000262719:R1084H	R	+	2	0	PHLPP1	58763411	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.290000	0.96065	2.655000	0.90218	0.655000	0.94253	CGC	.		0.433	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		A	60612431	G	A	60612431	3	1	34	1	0	0	0	0	1	0	0	0	11893	1087	38	1	3297	1	PHLPP1	18	60612431	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	37942908	60612431	17464817	112	5362											
FUT6	2528	hgsc.bcm.edu	37	19	5831808	5831808	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:5831808C>A	ENST00000318336.4	-	3	1965	c.771G>T	c.(769-771)gaG>gaT	p.E257D	FUT6_ENST00000286955.5_Missense_Mutation_p.E257D|FUT6_ENST00000527106.1_Missense_Mutation_p.E257D|FUT6_ENST00000524754.1_Missense_Mutation_p.E257D|FUT6_ENST00000592563.1_Missense_Mutation_p.E257D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	257					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						TCCACAGCTTCTCGGTGATGT	0.632																																					p.E257D		.											FUT6,NS,carcinoma,0,1	FUT6	0	0			c.G771T						.						53	56	55					19																	5831808		2202	4277	6479	SO:0001583	missense	2528	exon3			CAGCTTCTCGGTG		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.771G>T	19.37:g.5831808C>A	ENSP00000313398:p.Glu257Asp	44	0		58	4	NM_000150	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965602	0.53507	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	3.07	3.07	0.35406	.	0.000000	0.64402	D	0.000018	T	0.82195	0.4984	H	0.96239	3.79	0.32324	N	0.561958	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84504	0.0618	10	0.87932	D	0	.	6.7607	0.23538	0.0:0.8576:0.0:0.1424	.	257;257	C9J8A2;P51993	.;FUT6_HUMAN	D	257	ENSP00000431708:E257D;ENSP00000432954:E257D;ENSP00000313398:E257D;ENSP00000286955:E257D	ENSP00000286955:E257D	E	-	3	2	FUT6	5782808	1.000000	0.71417	0.998000	0.56505	0.424000	0.31475	1.652000	0.37313	1.677000	0.50941	0.430000	0.28490	GAG	.		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		A	5831808	C	A	5831808	3	1	34	1	0	0	0	0	1	0	0	0	6132	912	32	3	312	3	FUT6	19	5831808	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09		5831808	53297175	113	5363											
KEAP1	9817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	10610426	10610426	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:10610426G>A	ENST00000171111.5	-	2	831	c.284C>T	c.(283-285)gCc>gTc	p.A95V	KEAP1_ENST00000393623.2_Missense_Mutation_p.A95V|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	95	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)	CACCTTGTGGGCCATGAACTG	0.612																																					p.A95V		.											.	.	.	0			c.C284T						.						83	66	71					19																	10610426		2203	4300	6503	SO:0001583	missense	9817	exon2			TTGTGGGCCATGA	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.284C>T	19.37:g.10610426G>A	ENSP00000171111:p.Ala95Val	22	0		20	5	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980141	0.53827	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.74002	-0.8;-0.8	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.053923	0.64402	D	0.000001	T	0.69305	0.3096	L	0.46819	1.47	0.58432	D	0.999996	P	0.42296	0.775	B	0.39660	0.306	T	0.74598	-0.3612	10	0.62326	D	0.03	.	15.0979	0.72250	0.0:0.0:1.0:0.0	.	95	Q14145	KEAP1_HUMAN	V	95	ENSP00000171111:A95V;ENSP00000377245:A95V	ENSP00000171111:A95V	A	-	2	0	KEAP1	10471426	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.622000	0.74233	2.162000	0.67917	0.462000	0.41574	GCC	.		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		A	10610426	G	A	10610426	3	1	34	1	0	0	0	0	1	0	0	0	8168	1203	42	3	1610	3	KEAP1	19	10610426	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	4778618	10610426	48518557	114	5364											
ZNF709	163051	hgsc.bcm.edu;bcgsc.ca	37	19	12575678	12575678	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:12575678C>T	ENST00000397732.3	-	4	1229	c.1058G>A	c.(1057-1059)aGa>aAa	p.R353K	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R353K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TATCATATGTCTTCGATAGCT	0.378																																					p.R353K	GBM(33;565 669 12371 29134 51667)	.											.	.	.	0			c.G1058A						.						101	109	106					19																	12575678		2202	4300	6502	SO:0001583	missense	163051	exon4			ATATGTCTTCGAT	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.1058G>A	19.37:g.12575678C>T	ENSP00000380840:p.Arg353Lys	70	0		63	4	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.287971	0.01387	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.22539	1.95;1.95	2.43	-4.86	0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.216320	0.23360	N	0.049032	T	0.09949	0.0244	N	0.25144	0.715	0.09310	N	1	B	0.34399	0.452	B	0.40864	0.342	T	0.35748	-0.9776	10	0.05620	T	0.96	.	6.2093	0.20619	0.1102:0.2013:0.5956:0.093	.	353	Q8N972	ZN709_HUMAN	K	353	ENSP00000380840:R353K;ENSP00000404127:R353K	ENSP00000404127:R353K	R	-	2	0	ZNF709;CTD-2192J16.17	12436678	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	-6.756000	0.00054	-1.307000	0.02321	0.467000	0.42956	AGA	.		0.378	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		T	12575678	C	T	12575678	3	4	34	1	0	0	0	0	1	0	0	0	18161	913	32	3	871	3	ZNF709	19	12575678	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	1965252	12575678	46553305	115	5365											
ZNF682	91120	hgsc.bcm.edu	37	19	20117004	20117004	+	Missense_Mutation	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:20117004C>A	ENST00000397165.2	-	4	1467	c.1307G>T	c.(1306-1308)cGg>cTg	p.R436L	ZNF682_ENST00000358523.5_Missense_Mutation_p.R404L|ZNF682_ENST00000397162.1_Missense_Mutation_p.R404L|ZNF682_ENST00000595736.1_Missense_Mutation_p.R360L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.R442L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	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)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTGTGAGCACCGATTAAAGGC	0.388																																					p.R436L		.											ZNF682,NS,carcinoma,0,1	ZNF682	0	0			c.G1307T						.						91	99	96					19																	20117004		2181	4293	6474	SO:0001583	missense	91120	exon4			GAGCACCGATTAA	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.1307G>T	19.37:g.20117004C>A	ENSP00000380351:p.Arg436Leu	60	0		54	3	NM_033196	B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.184720	0.01620	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	T;T;T	0.35236	1.32;1.32;1.32	1.09	-1.17	0.09648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28300	0.0699	L	0.53249	1.67	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.27226	-1.0080	9	0.37606	T	0.19	.	4.8142	0.13358	0.0:0.5524:0.0:0.4476	.	436	O95780	ZN682_HUMAN	L	436;404;105;404	ENSP00000380351:R436L;ENSP00000380348:R404L;ENSP00000351324:R404L	ENSP00000340236:R105L	R	-	2	0	ZNF682	19978004	0.000000	0.05858	0.020000	0.16555	0.018000	0.09664	-2.036000	0.01421	-0.344000	0.08338	-0.339000	0.08088	CGG	.		0.388	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		A	20117004	C	A	20117004	3	1	34	1	0	0	0	0	1	0	0	0	18137	652	23	2	193	2	ZNF682	19	20117004	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	7541326	20117004	39011979	116	5366											
ZNF254	9534	hgsc.bcm.edu	37	19	24289441	24289441	+	Silent	SNP	C	C	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:24289441C>A	ENST00000357002.4	+	3	364	c.249C>A	c.(247-249)ccC>ccA	p.P83P	ZNF254_ENST00000339642.6_Silent_p.P83P|ZNF254_ENST00000342944.6_Intron	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	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)				TGGATGAACCCCCAGGTAGGT	0.443																																					p.P83P		.											.	.	.	0			c.C249A						.						113	119	117					19																	24289441		1511	2708	4219	SO:0001819	synonymous_variant	9534	exon3			TGAACCCCCAGGT	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.249C>A	19.37:g.24289441C>A		88	0		90	3	NM_203282	A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	CCDS32983.1																																																																																			.		0.443	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		A	24289441	C	A	24289441	2	1	34	1	0	0	0	0	0	0	0	1	17846	610	22	3		3	ZNF254	19	24289441	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	4172437	24289441	34839542	117	5367											
ZNF792	126375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	35450228	35450228	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:35450228C>T	ENST00000404801.1	-	4	917	c.531G>A	c.(529-531)cgG>cgA	p.R177R	ZNF792_ENST00000605484.1_Silent_p.R110R	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)			GCACCTGTTTCCGGGGAAGGT	0.507																																					p.R177R	GBM(1;7 183 21053 22581 22847)	.											.	.	.	0			c.G531A						.						252	246	248					19																	35450228		2203	4300	6503	SO:0001819	synonymous_variant	126375	exon4			CTGTTTCCGGGGA	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.531G>A	19.37:g.35450228C>T		53	0		59	11	NM_175872	B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	CCDS12440.2																																																																																			.		0.507	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		T	35450228	C	T	35450228	2	4	34	1	0	0	0	0	0	0	0	1	18212	842	30	3		3	ZNF792	19	35450228	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	11160787	35450228	23678755	118	5368											
CD22	933	hgsc.bcm.edu	37	19	35832642	35832642	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:35832642G>T	ENST00000085219.5	+	9	1875	c.1809G>T	c.(1807-1809)ggG>ggT	p.G603G	CD22_ENST00000594250.1_Silent_p.G426G|CD22_ENST00000536635.2_Silent_p.G515G|CD22_ENST00000270311.6_Silent_p.G483G|CD22_ENST00000544992.2_Silent_p.G603G|CD22_ENST00000419549.2_Silent_p.G431G|CD22_ENST00000341773.6_Silent_p.G426G	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	603	Ig-like C2-type 6.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGAGCCCGGGGGACCAAGTGA	0.627																																					p.G603G	Ovarian(42;1009 1133 23674 26041)	.											CD22,NS,carcinoma,0,1	CD22	0	0			c.G1809T						.						103	84	90					19																	35832642		2203	4300	6503	SO:0001819	synonymous_variant	933	exon9			CCCGGGGGACCAA	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1809G>T	19.37:g.35832642G>T		48	0		49	2	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																			.		0.627	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		T	35832642	G	T	35832642	2	4	34	1	0	0	0	0	0	0	0	1	2992	1219	43	3		3	CD22	19	35832642	Silent	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	382414	35832642	23296341	119	5369											
FCGBP	8857	bcgsc.ca	37	19	40360905	40360905	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:40360905C>T	ENST00000221347.6	-	33	15510	c.15503G>A	c.(15502-15504)tGc>tAc	p.C5168Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5168	Cys-rich.|TIL 12.					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)			GACAGGGATGCAGACACCCTG	0.612																																					p.C5168Y													.	FCGBP	416	0			c.G15503A						.						69	66	67					19																	40360905		2203	4300	6503	SO:0001583	missense	8857	exon33			GGGATGCAGACAC	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.15503G>A	19.37:g.40360905C>T	ENSP00000221347:p.Cys5168Tyr	71	0		59	4	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841408	0.71488	.	.	ENSG00000090920	ENST00000221347	D	0.98221	-4.8	4.77	4.77	0.60923	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.98866	4.355	0.47123	D	0.99932	D	0.89917	1.0	D	0.97110	1.0	D	0.98089	1.0408	10	0.87932	D	0	.	15.3345	0.74241	0.0:1.0:0.0:0.0	.	5168	Q9Y6R7	FCGBP_HUMAN	Y	5168	ENSP00000221347:C5168Y	ENSP00000221347:C5168Y	C	-	2	0	FCGBP	45052745	1.000000	0.71417	0.224000	0.23877	0.428000	0.31595	7.590000	0.82653	2.492000	0.84095	0.563000	0.77884	TGC	.		0.612	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40360905	C	T	40360905	3	4	34	1	0	0	0	0	1	0	0	0	5800	710	25	3	730	3	FCGBP	19	40360905	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	4528263	40360905	18768078	120	5370											
CADM4	199731	hgsc.bcm.edu	37	19	44127517	44127517	+	Missense_Mutation	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:44127517C>T	ENST00000222374.2	-	9	1180	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	378					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TTGTGTCCGTCGCTGCCATTG	0.617																																					p.D378N		.											CADM4,colon,carcinoma,+2,1	CADM4	+2	0			c.G1132A						.						162	159	160					19																	44127517		2203	4300	6503	SO:0001583	missense	199731	exon9			GTCCGTCGCTGCC	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.1132G>A	19.37:g.44127517C>T	ENSP00000222374:p.Asp378Asn	50	0		45	2	NM_145296	B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484826	0.44147	.	.	ENSG00000105767	ENST00000222374	T	0.61742	0.08	4.56	3.43	0.39272	.	0.061173	0.64402	D	0.000010	T	0.39253	0.1071	N	0.20986	0.625	0.41621	D	0.988962	B	0.32731	0.382	B	0.23018	0.043	T	0.49624	-0.8920	10	0.66056	D	0.02	.	12.0836	0.53686	0.0:0.8248:0.1751:0.0	.	378	Q8NFZ8	CADM4_HUMAN	N	378	ENSP00000222374:D378N	ENSP00000222374:D378N	D	-	1	0	CADM4	48819357	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	4.650000	0.61440	2.270000	0.75569	0.460000	0.39030	GAC	.		0.617	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		T	44127517	C	T	44127517	3	4	34	1	0	0	0	0	1	0	0	0	2576	884	31	1	38	1	CADM4	19	44127517	Missense_Mutation	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	3766612	44127517	15001466	121	5371											
ZNF234	10780	broad.mit.edu	37	19	44661838	44661838	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:44661838G>T	ENST00000426739.2	+	6	1927	c.1669G>T	c.(1669-1671)Gcc>Tcc	p.A557S	ZNF234_ENST00000592437.1_Missense_Mutation_p.A557S	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	557					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)				ACACCTTCAAGCCCATCAAAA	0.488																																					p.A557S													.	ZNF234	132	0			c.G1669T						.						80	86	84					19																	44661838		2196	4299	6495	SO:0001583	missense	10780	exon6			CTTCAAGCCCATC	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.1669G>T	19.37:g.44661838G>T	ENSP00000400878:p.Ala557Ser	51	0		44	3	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885576	0.33255	.	.	ENSG00000167380	ENST00000426739	T	0.07327	3.2	4.02	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	N	0.12569	0.235	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23084	-1.0198	9	0.09084	T	0.74	.	8.231	0.31597	0.2801:0.0:0.7199:0.0	.	557	Q14588	ZN234_HUMAN	S	557	ENSP00000400878:A557S	ENSP00000400878:A557S	A	+	1	0	ZNF226	49353678	0.000000	0.05858	0.012000	0.15200	0.982000	0.71751	-1.980000	0.01492	0.430000	0.26230	0.585000	0.79938	GCC	.		0.488	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			T	44661838	G	T	44661838	3	4	34	1	0	0	0	0	1	0	0	0	17835	971	34	3	1683	3	ZNF234	19	44661838	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	534321	44661838	14467145	122	5372											
PPFIA3	8541	hgsc.bcm.edu	37	19	49651449	49651449	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:49651449G>T	ENST00000334186.4	+	24	3294	c.2945G>T	c.(2944-2946)cGa>cTa	p.R982L	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R973L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	982	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.R982Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGACGCTCGAATGTTAGAT	0.592																																					p.R982L		.											PPFIA3,colon,carcinoma,0,1	PPFIA3	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2945T						.						57	56	56					19																	49651449		2203	4300	6503	SO:0001583	missense	8541	exon24			ACGCTCGAATGTT	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2945G>T	19.37:g.49651449G>T	ENSP00000335614:p.Arg982Leu	68	0		48	2	NM_003660	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133847	0.94517	.	.	ENSG00000177380	ENST00000334186	T	0.52295	0.67	4.59	4.59	0.56863	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.43747	D	0.000534	T	0.75199	0.3817	M	0.91038	3.17	0.80722	D	1	P;D	0.89917	0.954;1.0	P;D	0.85130	0.664;0.997	T	0.82390	-0.0481	10	0.87932	D	0	-7.6618	16.5581	0.84491	0.0:0.0:1.0:0.0	.	973;982	O75145-2;O75145	.;LIPA3_HUMAN	L	982	ENSP00000335614:R982L	ENSP00000335614:R982L	R	+	2	0	PPFIA3	54343261	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	9.800000	0.99124	2.272000	0.75746	0.563000	0.77884	CGA	.		0.592	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		T	49651449	G	T	49651449	3	4	34	1	0	0	0	0	1	0	0	0	12350	1058	37	2	3035	2	PPFIA3	19	49651449	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	4989611	49651449	9477534	123	5373											
KLK4	9622	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	51412609	51412609	+	Silent	SNP	C	C	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr19:51412609C>T	ENST00000324041.1	-	2	122	c.123G>A	c.(121-123)tcG>tcA	p.S41S	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	41	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)		GCCAGGGCTGCGAGTGCGGGC	0.622																																					p.S41S		.											.	.	.	0			c.G123A						.						139	153	149					19																	51412609		2203	4300	6503	SO:0001819	synonymous_variant	9622	exon2			GGGCTGCGAGTGC	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.123G>A	19.37:g.51412609C>T		48	0		37	4	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	CCDS12809.1																																																																																			.		0.622	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		T	51412609	C	T	51412609	2	4	34	1	0	0	0	0	0	0	0	1	8433	755	27	1		1	KLK4	19	51412609	Silent	SNP	C	TCGA-ZH-A8Y8-01A-51D-A417-09	1761160	51412609	7716374	124	5374											
PCSK2	5126	hgsc.bcm.edu	37	20	17338992	17338992	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr20:17338992G>T	ENST00000262545.2	+	3	618	c.303G>T	c.(301-303)caG>caT	p.Q101H	PCSK2_ENST00000536609.1_Missense_Mutation_p.Q66H|PCSK2_ENST00000377899.1_Missense_Mutation_p.Q82H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	101					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)"	CTTTGCAGCAGGAAGGATTTG	0.393																																					p.Q101H		.											.,1	.	112	0			c.G303T						.						165	135	146					20																	17338992		2203	4300	6503	SO:0001583	missense	5126	exon3			GCAGCAGGAAGGA	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.303G>T	20.37:g.17338992G>T	ENSP00000262545:p.Gln101His	58	1		75	3	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	14.68	2.609037	0.46527	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.73152	0.81;0.81;-0.72	6.17	0.647	0.17796	Proteinase inhibitor, propeptide (1);	0.051408	0.85682	N	0.000000	D	0.82912	0.5140	M	0.91510	3.215	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.76071	0.864;0.987	T	0.79060	-0.1958	10	0.87932	D	0	-27.8839	5.1542	0.15027	0.4231:0.1417:0.4352:0.0	.	66;101	B4DFQ3;P16519	.;NEC2_HUMAN	H	82;101;66	ENSP00000367131:Q82H;ENSP00000262545:Q101H;ENSP00000437458:Q66H	ENSP00000262545:Q101H	Q	+	3	2	PCSK2	17286992	1.000000	0.71417	0.990000	0.47175	0.392000	0.30506	2.064000	0.41432	-0.087000	0.12528	-0.136000	0.14681	CAG	.		0.393	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17338992	G	T	17338992	3	4	34	1	0	0	0	0	1	0	0	0	11640	991	35	3	313	3	PCSK2	20	17338992	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		17338992	45686528	125	5375											
PXMP4	11264	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	32298495	32298502	+	Frame_Shift_Del	DEL	ACCGTGCC	ACCGTGCC	-	rs374588175		TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	ACCGTGCC	ACCGTGCC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr20:32298495_32298502delACCGTGCC	ENST00000409299.3	-	3	326_333	c.234_241delGGCACGGT	c.(232-243)ctggcacggtttfs	p.ARF79fs	PXMP4_ENST00000344022.3_Intron|PXMP4_ENST00000217398.3_Frame_Shift_Del_p.WHG85fs	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	79						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GTGAACACAAACCGTGCCAGGTTCCAGG	0.587																																					p.79_81del		.											.	.	.	0			c.235_242del						.																																			SO:0001589	frameshift_variant	11264	exon3			ACACAAACCGTGC	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"24 kDa peroxisomal intrinsic membrane protein"		"peroxisomal membrane protein 4 (24kD)"			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.234_241delGGCACGGT	20.37:g.32298495_32298502delACCGTGCC	ENSP00000386385:p.Ala79fs	45	0		55	12	NM_007238	A2A2I7|Q9H0T4	Frame_Shift_Del	DEL	ENST00000409299.3	37	CCDS13225.1																																																																																			.		0.587	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		-	32298502	ACCGTGCC	-	32298495	7	5	34	1	0	1	0	1	0	0	0	0	12896	43	2	0	405	0	PXMP4	20	32298495	Frame_Shift_Del	DEL	ACCGTGCC	TCGA-ZH-A8Y8-01A-51D-A417-09	14959503	32298495	30727025	126	5376											
TRPC4AP	26133	broad.mit.edu	37	20	33632325	33632325	+	Missense_Mutation	SNP	G	G	A			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr20:33632325G>A	ENST00000252015.2	-	7	937	c.848C>T	c.(847-849)gCa>gTa	p.A283V	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.A283V|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.A244V			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	283	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)			GATTTCAGCTGCAGAAGGCCC	0.398																																					p.A283V													.	TRPC4AP	64	0			c.C848T						.						99	100	99					20																	33632325		2203	4300	6503	SO:0001583	missense	26133	exon7			TCAGCTGCAGAAG	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.848C>T	20.37:g.33632325G>A	ENSP00000252015:p.Ala283Val	68	0		67	4	NM_199368	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	6.892	0.534120	0.13188	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	5.74	3.73	0.42828	.	0.173078	0.51477	D	0.000093	T	0.22399	0.0540	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.13594	0.0;0.004;0.008	B;B;B	0.06405	0.0;0.002;0.002	T	0.17992	-1.0351	9	0.02654	T	1	.	9.0763	0.36525	0.0:0.3837:0.5014:0.115	.	244;283;283	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	V	283;283;244;268	.	ENSP00000252015:A283V	A	-	2	0	TRPC4AP	33095986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.306000	0.65756	1.410000	0.46936	0.585000	0.79938	GCA	.		0.398	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		A	33632325	G	A	33632325	3	1	34	1	0	0	0	0	1	0	0	0	16629	1319	46	3	1597	3	TRPC4AP	20	33632325	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	1333830	33632325	29393195	127	5377											
ZFP64	55734	hgsc.bcm.edu	37	20	50768700	50768700	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr20:50768700G>T	ENST00000216923.4	-	6	2380	c.2031C>A	c.(2029-2031)gaC>gaA	p.D677E	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.D623E|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.D675E|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	677					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAATGGAGTCGGCGGGAC	0.463																																					p.D677E		.											.	.	.	0			c.C2031A						.						55	53	54					20																	50768700		2202	4300	6502	SO:0001583	missense	55734	exon6			AATGGAGTCGGCG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.2031C>A	20.37:g.50768700G>T	ENSP00000216923:p.Asp677Glu	42	0		53	4	NM_018197	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962709	0.34659	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.11495	2.79;2.82;2.77	5.44	-2.23	0.06930	.	0.000000	0.64402	D	0.000014	T	0.08537	0.0212	L	0.32530	0.975	0.34802	D	0.736853	P;P;P	0.41748	0.761;0.648;0.648	B;B;B	0.39465	0.3;0.158;0.158	T	0.13683	-1.0500	10	0.87932	D	0	-19.2467	13.3986	0.60870	0.3566:0.0:0.6434:0.0	.	623;675;677	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	E	677;623;675;519	ENSP00000216923:D677E;ENSP00000344615:D623E;ENSP00000360570:D675E	ENSP00000216923:D677E	D	-	3	2	ZFP64	50202107	0.605000	0.26941	0.672000	0.29872	0.249000	0.25844	-0.346000	0.07760	-0.337000	0.08426	0.650000	0.86243	GAC	.		0.463	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		T	50768700	G	T	50768700	3	4	34	1	0	0	0	0	1	0	0	0	17700	1020	36	3	1209	3	ZFP64	20	50768700	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	17136375	50768700	12256820	128	5378											
TCEA2	6919	ucsc.edu	37	20	62699440	62699440	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr20:62699440G>T	ENST00000343484.5	+	4	451	c.282G>T	c.(280-282)atG>atT	p.M94I	TCEA2_ENST00000395053.3_Missense_Mutation_p.M94I|TCEA2_ENST00000361317.2_Missense_Mutation_p.M67I|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	94					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGAGGGGCATGCCTCTGCCCA	0.637																																					p.M94I													.	TCEA2	22	0			c.G282T						.						48	44	45					20																	62699440		2203	4300	6503	SO:0001583	missense	6919	exon4			GGGCATGCCTCTG	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.282G>T	20.37:g.62699440G>T	ENSP00000343515:p.Met94Ile	20	0		37	4	NM_003195	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	G	7.291	0.611103	0.14066	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000415602;ENST00000440819;ENST00000458442	.	.	.	3.21	-1.73	0.08081	Transcription factor IIS, N-terminal (1);	2.080600	0.02258	N	0.067306	T	0.18800	0.0451	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	0.14924	-1.0455	9	0.40728	T	0.16	-5.7804	4.0409	0.09751	0.3981:0.1757:0.4262:0.0	.	94;94;67;94	Q15560;Q6IB64;B3KNM1;Q86VL0	TCEA2_HUMAN;.;.;.	I	67;94;94;67;67;67;67	.	ENSP00000339432:M67I	M	+	3	0	TCEA2	62169884	0.000000	0.05858	0.224000	0.23877	0.448000	0.32197	0.052000	0.14163	-0.311000	0.08754	-1.259000	0.01468	ATG	.		0.637	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		T	62699440	G	T	62699440	3	4	34	1	0	0	0	0	1	0	0	0	15715	1319	46	3	296	3	TCEA2	20	62699440	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09	11930740	62699440	326080	129	5379											
POLR2F	5435	hgsc.bcm.edu	37	22	38363154	38363154	+	Silent	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chr22:38363154G>T	ENST00000442738.2	+	4	395	c.270G>T	c.(268-270)ctG>ctT	p.L90L	POLR2F_ENST00000405557.1_Silent_p.L90L|POLR2F_ENST00000407936.1_Silent_p.L90L|POLR2F_ENST00000488684.1_3'UTR|POLR2F_ENST00000460648.1_Silent_p.L66L|POLR2F_ENST00000606538.1_Silent_p.L90L|POLR2F_ENST00000470701.1_Silent_p.L85L	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	90					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)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CAGATCCTCTGCTCATTGCCA	0.527																																					p.L90L		.											POLR2F,NS,carcinoma,0,1	POLR2F	0	0			c.G270T						.						190	146	161					22																	38363154		2203	4300	6503	SO:0001819	synonymous_variant	5435	exon4			TCCTCTGCTCATT		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"RNA polymerase subunits"	9193	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 14.4 kda polypeptide"	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.270G>T	22.37:g.38363154G>T		49	0		40	2	NM_021974	P41584|Q6IAY3	Silent	SNP	ENST00000442738.2	37	CCDS13963.1																																																																																			.		0.527	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		T	38363154	G	T	38363154	2	4	34	1	0	0	0	0	0	0	0	1	12258	1306	46	3		3	POLR2F	22	38363154	Silent	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		38363154	12941412	130	5380											
IL9R	3581	hgsc.bcm.edu	37	X	155232673	155232673	+	Missense_Mutation	SNP	G	G	T			TCGA-ZH-A8Y8-01A-51D-A417-09	TCGA-ZH-A8Y8-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	0d81bfe5-4f95-43dd-9849-9201dae94d08	91c49302-1a35-47b6-b352-db1a5a128928	g.chrX:155232673G>T	ENST00000244174.5	+	2	310	c.131G>T	c.(130-132)gGg>gTg	p.G44V	IL9R_ENST00000424344.3_Missense_Mutation_p.G23V|IL9R_ENST00000540897.1_Missense_Mutation_p.G81V|IL9R_ENST00000369423.2_Missense_Mutation_p.G91V	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	44					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.G44V(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					TCTGTCACAGGGGAAGGACAA	0.587																																					p.G91V		.											.	.	.	1	Substitution - Missense(1)	lung(1)	c.G272T						.						180	175	177					X																	155232673		2203	4296	6499	SO:0001583	missense	3581	exon3			TCACAGGGGAAGG	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.131G>T	X.37:g.155232673G>T	ENSP00000244174:p.Gly44Val	79	0		81	4	NM_176786	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	9.329	1.060052	0.19987	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	1.29	-2.3	0.06785	.	2.169470	0.02215	N	0.063550	T	0.45357	0.1338	.	.	.	0.09310	N	1	P;P;D	0.55172	0.928;0.741;0.97	P;B;P	0.56563	0.66;0.426;0.801	T	0.39078	-0.9631	9	0.46703	T	0.11	-5.0637	5.4356	0.16480	0.4992:0.0:0.5008:0.0	.	23;44;91	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	V	44;23;23;91;81	ENSP00000244174:G44V;ENSP00000388918:G23V;ENSP00000358431:G91V;ENSP00000438112:G81V	ENSP00000244174:G44V	G	+	2	0	IL9R	154885867	0.122000	0.22280	0.005000	0.12908	0.065000	0.16274	-0.093000	0.11111	-1.115000	0.02973	-1.346000	0.01242	GGG	.		0.587	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		T	155232673	G	T	155232673	3	4	34	1	0	0	0	0	1	0	0	0	7735	1232	43	3	137	3	IL9R	23	155232673	Missense_Mutation	SNP	G	TCGA-ZH-A8Y8-01A-51D-A417-09		155232673	37887	131	5381											
RNF220	55182	broad.mit.edu	37	1	44877854	44877854	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:44877854G>A	ENST00000355387.2	+	2	535	c.85G>A	c.(85-87)Gca>Aca	p.A29T	RNF220_ENST00000361799.2_Missense_Mutation_p.A29T|RNF220_ENST00000372247.2_Missense_Mutation_p.A29T			Q5VTB9	RN220_HUMAN	ring finger protein 220	29					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						GATGGTCCTGGCATCCACGGC	0.552																																					p.A29T													.	RNF220	56	0			c.G85A						.						117	95	103					1																	44877854		2203	4300	6503	SO:0001583	missense	55182	exon2			GTCCTGGCATCCA	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.85G>A	1.37:g.44877854G>A	ENSP00000347548:p.Ala29Thr	25	0		33	3	NM_018150	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783861	0.90282	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.69416	-0.5151	9	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	29	Q5VTB9	RN220_HUMAN	T	29	.	ENSP00000347548:A29T	A	+	1	0	RNF220	44650441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.880000	0.98712	0.655000	0.94253	GCA	.		0.552	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		A	44877854	G	A	44877854	3	1	35	1	0	0	0	0	1	0	0	0	13528	1203	42	3	87	3	RNF220	1	44877854	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		44877854	204372767	1	5382											
C1orf190	541468	hgsc.bcm.edu	37	1	46685389	46685389	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:46685389G>T	ENST00000371980.3	+	2	310	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	LURA1_HUMAN	leucine rich adaptor protein 1	73					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)											GCGAGCCATCGATGTGAAGAT	0.587																																					p.D73Y		.											C1orf190,NS,carcinoma,0,1	C1orf190	0	0			c.G217T						.						80	74	76					1																	46685389		2203	4300	6503	SO:0001583	missense	541468	exon2			GCCATCGATGTGA	AK057892	CCDS30703.1	1p34.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000171357	ENSG00000171357			32327	protein-coding gene	gene with protein product	"leucine repeat adaptor protein 35a"		"chromosome 1 open reading frame 190"	C1orf190		21048106	Standard	NM_001013615		Approved	FLJ25163, LRAP35a	uc010oma.2	Q96LR2	OTTHUMG00000007605	ENST00000371980.3:c.217G>T	1.37:g.46685389G>T	ENSP00000361048:p.Asp73Tyr	25	0		46	2	NM_001013615		Missense_Mutation	SNP	ENST00000371980.3	37	CCDS30703.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968182	0.92855	.	.	ENSG00000171357	ENST00000371980	.	.	.	5.82	5.82	0.92795	.	0.091985	0.64402	D	0.000001	T	0.78285	0.4259	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78687	-0.2107	9	0.87932	D	0	-12.2729	20.0956	0.97842	0.0:0.0:1.0:0.0	.	73	Q96LR2	LP35A_HUMAN	Y	73	.	ENSP00000361048:D73Y	D	+	1	0	C1orf190	46457976	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	9.720000	0.98763	2.746000	0.94184	0.650000	0.86243	GAT	.		0.587	LURAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020154.1	NM_001013615		T	46685389	G	T	46685389	3	4	35	1	0	0	0	0	1	0	0	0	2030	1058	37	2	223	2	C1orf190	1	46685389	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	1807535	46685389	202565232	2	5383											
SELENBP1	8991	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	151339353	151339353	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:151339353G>A	ENST00000368868.5	-	6	600	c.509C>T	c.(508-510)aCg>aTg	p.T170M	SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.T212M|SELENBP1_ENST00000447402.3_Missense_Mutation_p.T108M|SELENBP1_ENST00000435071.1_Missense_Mutation_p.T106M	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	170					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			CACCTCGAACGTCTCCCCATC	0.587																																					p.T212M		.											.	.	.	0			c.C635T						.						170	148	156					1																	151339353		2203	4300	6503	SO:0001583	missense	8991	exon6			TCGAACGTCTCCC	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.509C>T	1.37:g.151339353G>A	ENSP00000357861:p.Thr170Met	45	0		49	4	NM_001258289	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.74|17.74	3.464447|3.464447	0.63513|0.63513	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000424475|ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705	.|T;T;T;T;T	.|0.36699	.|1.24;1.24;1.24;2.29;2.29	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64627|0.64627	0.2615|0.2615	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|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	.|0.999;0.993;0.993;0.989;0.988;0.972;0.992	T|T	0.73069|0.73069	-0.4099|-0.4099	5|10	.|0.87932	.|D	.|0	-6.3685|-6.3685	17.9421|17.9421	0.89028|0.89028	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|108;212;130;154;23;106;170	.|B4E1F3;A6PVW9;A6PVW8;A6PVX1;B4DPI7;Q13228-2;Q13228	.|.;.;.;.;.;.;SBP1_HUMAN	C|M	131|170;108;106;154;212	.|ENSP00000357861:T170M;ENSP00000413960:T108M;ENSP00000408263:T106M;ENSP00000406222:T154M;ENSP00000397261:T212M	.|ENSP00000357861:T170M	R|T	-|-	1|2	0|0	SELENBP1|SELENBP1	149605977|149605977	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.336000|0.336000	0.28762|0.28762	5.313000|5.313000	0.65798|0.65798	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	CGT|ACG	.		0.587	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			A	151339353	G	A	151339353	3	1	35	1	0	0	0	0	1	0	0	0	14059	1145	40	1	937	1	SELENBP1	1	151339353	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	104653964	151339353	97911268	3	5384											
TCHH	7062	hgsc.bcm.edu	37	1	152085490	152085490	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:152085490C>T	ENST00000368804.1	-	2	202	c.203G>A	c.(202-204)cGt>cAt	p.R68H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				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)			GAAATCGACACGCCCATTACT	0.443																																					p.R68H		.											TCHH,colon,carcinoma,0,1	TCHH	0	0			c.G203A						.						49	49	49					1																	152085490		1892	4115	6007	SO:0001583	missense	7062	exon3			TCGACACGCCCAT	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.203G>A	1.37:g.152085490C>T	ENSP00000357794:p.Arg68His	44	0		35	2	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	6.918	0.539101	0.13250	.	.	ENSG00000159450	ENST00000368804	T	0.14144	2.53	4.58	-5.67	0.02444	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.01254	0.0041	N	0.03294	-0.36	0.09310	N	1	P	0.43412	0.806	B	0.40940	0.344	T	0.32322	-0.9911	9	0.18710	T	0.47	.	5.3817	0.16196	0.4226:0.1864:0.0:0.391	.	68	Q07283	TRHY_HUMAN	H	68	ENSP00000357794:R68H	ENSP00000357794:R68H	R	-	2	0	TCHH	150352114	0.000000	0.05858	0.000000	0.03702	0.496000	0.33645	-0.277000	0.08502	-1.233000	0.02551	-0.476000	0.04901	CGT	.		0.443	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152085490	C	T	152085490	3	4	35	1	0	0	0	0	1	0	0	0	15747	536	19	1	5632	1	TCHH	1	152085490	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	746137	152085490	97165131	4	5385											
PKLR	5313	hgsc.bcm.edu;bcgsc.ca	37	1	155271160	155271160	+	Silent	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:155271160G>T	ENST00000342741.4	-	1	65	c.27C>A	c.(25-27)tcC>tcA	p.S9S	PKLR_ENST00000392414.3_5'Flank	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	9					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GAAGCTGCAGGGATGATATGT	0.527																																					p.S9S		.											.	.	.	0			c.C27A						.						134	121	126					1																	155271160		2203	4300	6503	SO:0001819	synonymous_variant	5313	exon1			CTGCAGGGATGAT	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.27C>A	1.37:g.155271160G>T		29	0		47	4	NM_000298	O75758|P11973	Silent	SNP	ENST00000342741.4	37	CCDS1109.1																																																																																			.		0.527	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		T	155271160	G	T	155271160	2	4	35	1	0	0	0	0	0	0	0	1	12015	1219	43	3		3	PKLR	1	155271160	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	3185670	155271160	93979461	5	5386											
PRG4	10216	hgsc.bcm.edu	37	1	186276262	186276262	+	Missense_Mutation	SNP	A	A	C	rs572823944|rs554943190	byFrequency	TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:186276262A>C	ENST00000445192.2	+	7	1456	c.1411A>C	c.(1411-1413)Acc>Ccc	p.T471P	PRG4_ENST00000367486.3_Missense_Mutation_p.T428P|PRG4_ENST00000367483.4_Missense_Mutation_p.T430P|PRG4_ENST00000367485.4_Missense_Mutation_p.T378P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	471	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						TGCACCCACCACCAAGGAGCC	0.652														9	0.00179712	0.0038	0	5008	,	,		9353	0		0.002	False		,,,				2504	0.002				p.T471P		.											.,1	.	259	0			c.A1411C						.						86	94	92					1																	186276262		2203	4298	6501	SO:0001583	missense	10216	exon7			CCCACCACCAAGG	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.1411A>C	1.37:g.186276262A>C	ENSP00000399679:p.Thr471Pro	86	2		97	5	NM_005807	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	4.705	0.131095	0.08981	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05925	3.37;3.49;3.38;3.47	2.65	-5.29	0.02747	.	0.892392	0.09179	N	0.837745	T	0.03783	0.0107	L	0.33189	0.99	0.21762	N	0.999557	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	0.42632	-0.9440	9	.	.	.	-0.0017	3.2687	0.06874	0.5477:0.2197:0.1343:0.0983	.	337;378;471;430	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	428;337;430;378;471	ENSP00000356456:T428P;ENSP00000356453:T430P;ENSP00000356455:T378P;ENSP00000399679:T471P	.	T	+	1	0	PRG4	184542885	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.223000	0.17719	-1.906000	0.01089	0.092000	0.15492	ACC	.		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		C	186276262	A	C	186276262	3	2	35	1	0	0	0	0	1	0	0	0	12523	159	6	4	1433	4	PRG4	1	186276262	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	31005102	186276262	62974359	6	5387											
TATDN3	128387	hgsc.bcm.edu	37	1	212988490	212988490	+	Missense_Mutation	SNP	C	C	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:212988490C>A	ENST00000366974.4	+	10	911	c.817C>A	c.(817-819)Cag>Aag	p.Q273K	TATDN3_ENST00000366973.4_Missense_Mutation_p.Q272K|TATDN3_ENST00000532324.1_Missense_Mutation_p.Q280K|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000526641.1_Missense_Mutation_p.Q252K|TATDN3_ENST00000531963.1_3'UTR	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	273					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)		ACACTTGCTCCAGAAATAGCT	0.393																																					p.Q280K		.											TATDN3,NS,malignant_melanoma,0,1	TATDN3	0	0			c.C838A						.						81	82	82					1																	212988490		2203	4300	6503	SO:0001583	missense	128387	exon10			TTGCTCCAGAAAT	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.817C>A	1.37:g.212988490C>A	ENSP00000355941:p.Gln273Lys	32	0		46	2	NM_001146171	A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	CCDS31019.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249074	0.05867	.	.	ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000526641;ENST00000366973	.	.	.	5.3	4.37	0.52481	.	0.845757	0.10921	N	0.619468	T	0.35653	0.0939	N	0.11201	0.11	0.35482	D	0.798282	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;0.0;0.002;0.001;0.0	T	0.26815	-1.0092	9	0.25751	T	0.34	-16.0357	14.0278	0.64597	0.1526:0.8474:0.0:0.0	.	220;252;280;272;273	B7Z2Z9;E9PNH3;G3V151;Q17R31-2;Q17R31	.;.;.;.;TATD3_HUMAN	K	280;273;252;272	.	ENSP00000355940:Q272K	Q	+	1	0	TATDN3	211055113	0.001000	0.12720	0.172000	0.22920	0.566000	0.35808	1.019000	0.30014	1.193000	0.43086	0.563000	0.77884	CAG	.		0.393	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		A	212988490	C	A	212988490	3	1	35	1	0	0	0	0	1	0	0	0	15640	595	21	3	876	3	TATDN3	1	212988490	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	26712228	212988490	36262131	7	5388											
RYR2	6262	hgsc.bcm.edu	37	1	237732451	237732451	+	Silent	SNP	C	C	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:237732451C>A	ENST00000366574.2	+	29	3747	c.3430C>A	c.(3430-3432)Cgg>Agg	p.R1144R	RYR2_ENST00000360064.6_Silent_p.R1142R|RYR2_ENST00000542537.1_Silent_p.R1128R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1144	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	p.R1142W(1)		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)			ATAGGCCCAGCGGTGGCATCA	0.532																																					p.R1144R		.											RYR2,NS,carcinoma,0,1	RYR2	0	1	Substitution - Missense(1)	pancreas(1)	c.C3430A						.						72	74	73					1																	237732451		2062	4199	6261	SO:0001819	synonymous_variant	6262	exon29			GCCCAGCGGTGGC	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.3430C>A	1.37:g.237732451C>A		49	0		59	3	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237732451	C	A	237732451	2	1	35	1	0	0	0	0	0	0	0	1	13814	759	27	2		2	RYR2	1	237732451	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	24743961	237732451	11518170	8	5389											
OR2L2	26246	broad.mit.edu	37	1	248202088	248202088	+	Silent	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:248202088C>T	ENST00000366479.2	+	1	615	c.519C>T	c.(517-519)atC>atT	p.I173I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, 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)			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)			CCAGAGCCATCAATCATTTTT	0.433																																					p.I173I													.	OR2L2	115	0			c.C519T						.						213	194	200					1																	248202088		2203	4300	6503	SO:0001819	synonymous_variant	26246	exon1			AGCCATCAATCAT	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.519C>T	1.37:g.248202088C>T		57	0		78	5	NM_001004686	Q2M3T5	Silent	SNP	ENST00000366479.2	37	CCDS31103.1																																																																																			.		0.433	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248202088	C	T	248202088	2	4	35	1	0	0	0	0	0	0	0	1	11046	816	29	3		3	OR2L2	1	248202088	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	10469637	248202088	1048533	9	5390											
OR2T33	391195	hgsc.bcm.edu	37	1	248436680	248436680	+	Missense_Mutation	SNP	C	C	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:248436680C>G	ENST00000318021.2	-	1	458	c.437G>C	c.(436-438)tGt>tCt	p.C146S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C146F(1)		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)			CAGGAGCCAACACGACATGGT	0.577																																					p.C146S		.											OR2T33,NS,carcinoma,0,1	OR2T33	0	1	Substitution - Missense(1)	lung(1)	c.G437C						.						148	140	142					1																	248436680		2203	4300	6503	SO:0001583	missense	391195	exon1			AGCCAACACGACA		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.437G>C	1.37:g.248436680C>G	ENSP00000324687:p.Cys146Ser	76	0		73	4	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.496698	0.00010	.	.	ENSG00000177212	ENST00000318021	T	0.35421	1.31	2.7	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.236656	0.21793	N	0.069040	T	0.11580	0.0282	N	0.01235	-0.94	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.02654	T	1	.	14.0285	0.64601	0.0:0.1611:0.8388:0.0	.	146	Q8NG76	O2T33_HUMAN	S	146	ENSP00000324687:C146S	ENSP00000324687:C146S	C	-	2	0	OR2T33	246503303	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.176000	0.09811	0.004000	0.14682	-2.089000	0.00373	TGT	.		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		G	248436680	C	G	248436680	3	3	35	1	0	0	0	0	1	0	0	0	11063	478	17	5	528	5	OR2T33	1	248436680	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	234592	248436680	813941	10	5391	47	2									
OR2T33	391195	hgsc.bcm.edu	37	1	248436682	248436682	+	Silent	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr1:248436682C>T	ENST00000318021.2	-	1	456	c.435G>A	c.(433-435)tcG>tcA	p.S145S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S145S(2)		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)			GGAGCCAACACGACATGGTCA	0.572																																					p.S145S		.											OR2T33,NS,carcinoma,0,2	OR2T33	0	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G435A						.						146	138	141					1																	248436682		2203	4300	6503	SO:0001819	synonymous_variant	391195	exon1			CCAACACGACATG		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.435G>A	1.37:g.248436682C>T		77	1		74	4	NM_001004695	B2RNN0	Silent	SNP	ENST00000318021.2	37	CCDS31109.1																																																																																			.		0.572	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436682	C	T	248436682	2	4	35	1	0	0	0	0	0	0	0	1	11063	523	19	1		1	OR2T33	1	248436682	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	2	248436682	813939	11	5392	47	2									
ALLC	55821	bcgsc.ca	37	2	3730548	3730548	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:3730548G>T	ENST00000252505.3	+	7	557	c.395G>T	c.(394-396)tGg>tTg	p.W132L		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	151					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)		TCCGACGACTGGAGTTACTTG	0.423										HNSCC(21;0.051)																											p.W132L													ALLC,NS,carcinoma,+1,2	ALLC	61	0			c.G395T						.						136	136	136					2																	3730548		1900	4122	6022	SO:0001583	missense	55821	exon7			ACGACTGGAGTTA	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.395G>T	2.37:g.3730548G>T	ENSP00000252505:p.Trp132Leu	62	0		66	4	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357252	0.41801	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.44	4.56	0.56223	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	H	0.97540	4.025	0.51767	D	0.999937	D	0.89917	1.0	D	0.87578	0.998	D	0.90888	0.4759	9	0.87932	D	0	-23.26	12.5218	0.56065	0.0821:0.0:0.9179:0.0	.	151	Q8N6M5	ALLC_HUMAN	L	132	.	ENSP00000252505:W132L	W	+	2	0	ALLC	3708423	1.000000	0.71417	0.497000	0.27552	0.067000	0.16453	5.158000	0.64917	1.428000	0.47296	-0.216000	0.12614	TGG	.		0.423	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			T	3730548	G	T	3730548	3	4	35	1	0	0	0	0	1	0	0	0	534	1357	47	3	417	3	ALLC	2	3730548	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		3730548	239468825	12	5393											
C2orf16	84226	bcgsc.ca	37	2	27804408	27804408	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:27804408C>T	ENST00000408964.2	+	1	5020	c.4969C>T	c.(4969-4971)Ccc>Tcc	p.P1657S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1657	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)					CCATCGCAGTCCCTCAGAGAG	0.582																																					p.P1657S													.	C2orf16	357	0			c.C4969T						.						160	161	161					2																	27804408		1896	4121	6017	SO:0001583	missense	84226	exon1			CGCAGTCCCTCAG	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.4969C>T	2.37:g.27804408C>T	ENSP00000386190:p.Pro1657Ser	40	0		60	5	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	7.022	0.558838	0.13436	.	.	ENSG00000221843	ENST00000408964	T	0.05382	3.45	3.24	-5.41	0.02648	.	.	.	.	.	T	0.05135	0.0137	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40440	-0.9563	9	0.30078	T	0.28	.	2.7023	0.05152	0.1316:0.3017:0.3881:0.1786	.	1657	Q68DN1	CB016_HUMAN	S	1657	ENSP00000386190:P1657S	ENSP00000386190:P1657S	P	+	1	0	C2orf16	27657912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.950000	0.03889	-1.507000	0.01803	-0.643000	0.03959	CCC	.		0.582	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		T	27804408	C	T	27804408	3	4	35	1	0	0	0	0	1	0	0	0	2164	855	30	3	4971	3	C2orf16	2	27804408	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	24073860	27804408	215394965	13	5394											
FAM179A	165186	broad.mit.edu;bcgsc.ca	37	2	29274737	29274737	+	Silent	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:29274737C>T	ENST00000379558.4	+	20	3189	c.2838C>T	c.(2836-2838)agC>agT	p.S946S	FAM179A_ENST00000403861.2_Silent_p.S891S|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	946										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						CTGGACCCAGCGGGAACATCC	0.652																																					p.S946S													.	FAM179A	106	0			c.C2838T						.						13	15	14					2																	29274737		1962	4135	6097	SO:0001819	synonymous_variant	165186	exon20			ACCCAGCGGGAAC	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.2838C>T	2.37:g.29274737C>T		76	0		92	8	NM_199280	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																			.		0.652	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29274737	C	T	29274737	2	4	35	1	0	0	0	0	0	0	0	1	5524	767	27	1		1	FAM179A	2	29274737	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	1470329	29274737	213924636	14	5395											
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	73682297	73682297	+	Missense_Mutation	SNP	A	A	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:73682297A>C	ENST00000264448.6	+	9	7657	c.7546A>C	c.(7546-7548)Atg>Ctg	p.M2516L	ALMS1_ENST00000377715.1_Missense_Mutation_p.M2516L|ALMS1_ENST00000409009.1_Missense_Mutation_p.M2474L|ALMS1-IT1_ENST00000441587.2_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2516					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						AGCCTGGAATATGAAGTTCAA	0.343																																					p.M2516L		.											.	.	.	0			c.A7546C						.						153	142	146					2																	73682297		1870	4101	5971	SO:0001583	missense	7840	exon9			TGGAATATGAAGT	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.7546A>C	2.37:g.73682297A>C	ENSP00000264448:p.Met2516Leu	56	0		71	9	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	0.867	-0.733406	0.03111	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.11385	3.66;3.66;2.78	4.98	1.09	0.20402	.	0.405345	0.18225	N	0.147765	T	0.02342	0.0072	N	0.01168	-0.975	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	0.43988	-0.9357	10	0.02654	T	1	.	4.593	0.12317	0.4435:0.3916:0.0:0.1649	.	2516;2474;2516	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2474;2516;2516	ENSP00000386627:M2474L;ENSP00000264448:M2516L;ENSP00000366944:M2516L	ENSP00000264448:M2516L	M	+	1	0	ALMS1	73535805	0.993000	0.37304	0.996000	0.52242	0.914000	0.54420	-0.069000	0.11542	-0.101000	0.12219	-1.738000	0.00688	ATG	.		0.343	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73682297	A	C	73682297	3	2	35	1	0	0	0	0	1	0	0	0	535	449	16	4	7580	4	ALMS1	2	73682297	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	44407560	73682297	169517076	15	5396											
RANBP2	5903	hgsc.bcm.edu	37	2	109379749	109379749	+	Silent	SNP	G	G	A	rs542711340	byFrequency	TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:109379749G>A	ENST00000283195.6	+	20	2880	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	918					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.P918P(2)	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						ATGCCTATCCGCAACAGATGC	0.453													g|||	3	0.000599042	0	0	5008	,	,		19150	0		0	False		,,,				2504	0.0031				p.P918P		.											RANBP2_ENST00000283195,rectum,carcinoma,0,2	RANBP2_ENST00000283195	0	2	Substitution - coding silent(2)	large_intestine(2)	c.G2754A						.						98	91	93					2																	109379749		2203	4300	6503	SO:0001819	synonymous_variant	5903	exon20			CTATCCGCAACAG	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.2754G>A	2.37:g.109379749G>A		13	0		15	2	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																			.		0.453	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109379749	G	A	109379749	2	1	35	1	0	0	0	0	0	0	0	1	13073	1074	38	1		1	RANBP2	2	109379749	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	35697452	109379749	133819624	16	5397											
PTPN4	5775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	120620118	120620118	+	Missense_Mutation	SNP	G	G	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:120620118G>C	ENST00000263708.2	+	3	916	c.145G>C	c.(145-147)Gat>Cat	p.D49H		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	49	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)	ACAGAAACATGATCAGGGGCA	0.348																																					p.D49H		.											.	.	.	0			c.G145C						.						129	119	123					2																	120620118		2203	4300	6503	SO:0001583	missense	5775	exon3			AAACATGATCAGG		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.145G>C	2.37:g.120620118G>C	ENSP00000263708:p.Asp49His	56	0		70	9	NM_002830	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326223	0.41197	.	.	ENSG00000088179	ENST00000263708;ENST00000420482;ENST00000488279	T;T;T	0.77229	-1.08;-1.08;-1.08	5.28	5.28	0.74379	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.205916	0.50627	D	0.000110	T	0.72391	0.3454	L	0.55834	1.745	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.69150	-0.5221	10	0.48119	T	0.1	.	11.2127	0.48808	0.0859:0.0:0.9141:0.0	.	49	P29074	PTN4_HUMAN	H	49	ENSP00000263708:D49H;ENSP00000405763:D49H;ENSP00000438445:D49H	ENSP00000263708:D49H	D	+	1	0	PTPN4	120336588	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.557000	0.67313	2.465000	0.83290	0.561000	0.74099	GAT	.		0.348	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			C	120620118	G	C	120620118	3	2	35	1	0	0	0	0	1	0	0	0	12835	1290	45	5	151	5	PTPN4	2	120620118	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	11240369	120620118	122579255	17	5398											
EPB41L5	57669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	120861693	120861693	+	Intron	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:120861693C>T	ENST00000263713.5	+	16	1551				EPB41L5_ENST00000443902.2_Intron|EPB41L5_ENST00000443124.1_Silent_p.A465A|EPB41L5_ENST00000331393.4_Silent_p.A465A|EPB41L5_ENST00000452780.1_Intron	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5						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						ACACAAGGGCCTTGCCCCCAC	0.532																																					p.A465A		.											.	.	.	0			c.C1395T						.																																			SO:0001627	intron_variant	57669	exon17			AAGGGCCTTGCCC	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.1337+3303C>T	2.37:g.120861693C>T		52	0		49	8	NM_001184939	Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	CCDS2130.1																																																																																			.		0.532	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		T	120861693	C	T	120861693	1	4	35	0	1	0	0	0	0	0	0	0	5173	668	24	3		3	EPB41L5	2	120861693	Intron	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	241575	120861693	122337680	18	5399											
UGGT1	56886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	128861520	128861520	+	Missense_Mutation	SNP	A	A	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:128861520A>C	ENST00000259253.6	+	3	256	c.209A>C	c.(208-210)gAa>gCa	p.E70A	UGGT1_ENST00000375990.3_Missense_Mutation_p.E46A	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	70					'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						TTTTTAGCAGAAGACAGTCAA	0.284																																					p.E70A		.											.	.	.	0			c.A209C						.						71	81	78					2																	128861520		2200	4299	6499	SO:0001583	missense	56886	exon3			TAGCAGAAGACAG	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.209A>C	2.37:g.128861520A>C	ENSP00000259253:p.Glu70Ala	138	0		229	29	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.180291	0.78677	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08984	3.03;3.03	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	M	0.79693	2.465	0.80722	D	1	D	0.58970	0.984	P	0.53360	0.724	T	0.02238	-1.1190	10	0.30854	T	0.27	.	13.0038	0.58692	1.0:0.0:0.0:0.0	.	70	Q9NYU2	UGGG1_HUMAN	A	46;70	ENSP00000365158:E46A;ENSP00000259253:E70A	ENSP00000259253:E70A	E	+	2	0	UGGT1	128577990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.632000	0.83247	2.062000	0.61559	0.477000	0.44152	GAA	.		0.284	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		C	128861520	A	C	128861520	3	2	35	1	0	0	0	0	1	0	0	0	16990	246	9	4	219	4	UGGT1	2	128861520	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	7999827	128861520	114337853	19	5400											
LY75	4065	hgsc.bcm.edu	37	2	160731975	160731975	+	Missense_Mutation	SNP	C	C	A	rs371478963		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:160731975C>A	ENST00000263636.4	-	12	1981	c.1954G>T	c.(1954-1956)Gca>Tca	p.A652S	LY75_ENST00000554112.1_Missense_Mutation_p.A652S|LY75_ENST00000553424.1_Missense_Mutation_p.A652S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.A652S|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.A652S	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	652	C-type lectin 4. {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)		GAAAGACTTGCGGGGAAACTC	0.433																																					p.A652S		.											LY75,NS,carcinoma,0,1	LY75	0	0			c.G1954T						.						87	95	92					2																	160731975		2202	4300	6502	SO:0001583	missense	4065	exon12			GACTTGCGGGGAA	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.1954G>T	2.37:g.160731975C>A	ENSP00000263636:p.Ala652Ser	47	0		45	2	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.800902	0.00611	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.08634	3.1;3.1;3.07;3.1;3.1	4.77	-3.78	0.04333	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.930646	0.08722	N	0.903332	T	0.01092	0.0036	N	0.00047	-2.43	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	0.48080	-0.9066	10	0.02654	T	1	-0.5496	7.1888	0.25814	0.4226:0.1191:0.0:0.4583	.	270;652;652;652	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	S	652	ENSP00000451511:A652S;ENSP00000451446:A652S;ENSP00000263636:A652S;ENSP00000423463:A652S;ENSP00000421035:A652S	ENSP00000423463:A652S	A	-	1	0	LY75;LY75-CD302	160440221	0.126000	0.22350	0.054000	0.19295	0.360000	0.29518	0.343000	0.19944	-0.345000	0.08325	-2.190000	0.00312	GCA	.		0.433	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160731975	C	A	160731975	3	1	35	1	0	0	0	0	1	0	0	0	9135	768	27	2	3310	2	LY75	2	160731975	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	31870455	160731975	82467398	20	5401											
GRB14	2888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	165476280	165476280	+	Missense_Mutation	SNP	G	G	T	rs139841108		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:165476280G>T	ENST00000263915.3	-	2	779	c.241C>A	c.(241-243)Cct>Act	p.P81T		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	81					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGGAAAAGGGTTTGGAATA	0.338																																					p.P81T		.											.	.	.	0			c.C241A						.						153	156	155					2																	165476280		2203	4300	6503	SO:0001583	missense	2888	exon2			GAAAAGGGTTTGG		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.241C>A	2.37:g.165476280G>T	ENSP00000263915:p.Pro81Thr	81	0		70	17	NM_004490	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951395	0.73787	.	.	ENSG00000115290	ENST00000263915;ENST00000446413;ENST00000424693	T;T;T	0.70516	0.97;0.39;-0.49	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000011	D	0.82393	0.5027	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83452	0.0049	10	0.62326	D	0.03	-5.523	17.0497	0.86515	0.0:0.0:1.0:0.0	.	81	Q14449	GRB14_HUMAN	T	81;36;23	ENSP00000263915:P81T;ENSP00000416786:P36T;ENSP00000401702:P23T	ENSP00000263915:P81T	P	-	1	0	GRB14	165184526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.864000	0.69575	2.548000	0.85928	0.655000	0.94253	CCT	.		0.338	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			T	165476280	G	T	165476280	3	4	35	1	0	0	0	0	1	0	0	0	6784	1232	43	3	1433	3	GRB14	2	165476280	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	4744305	165476280	77723093	21	5402											
TTN	7273	hgsc.bcm.edu;broad.mit.edu	37	2	179454980	179454980	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:179454980C>T	ENST00000591111.1	-	254	56773	c.56549G>A	c.(56548-56550)gGc>gAc	p.G18850D	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17923D|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11426D|TTN_ENST00000359218.5_Missense_Mutation_p.G11551D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G20491D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11618D			Q8WZ42	TITIN_HUMAN	titin	18850	Ig-like 107.				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)			GATAGTTTGGCCTACTCTCAC	0.443																																					p.G20491D		.											.	.	.	0			c.G61472A						.						199	182	188					2																	179454980		1968	4145	6113	SO:0001583	missense	7273	exon304			GTTTGGCCTACTC	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.56549G>A	2.37:g.179454980C>T	ENSP00000465570:p.Gly18850Asp	58	0		87	4	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	13.53	2.264480	0.39995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91136	0.7209	M	0.84219	2.685	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	0.91296	0.5063	9	0.87932	D	0	.	20.3955	0.98984	0.0:1.0:0.0:0.0	.	11426;11551;11618;18850	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	17923;11426;11618;11551;11424	ENSP00000343764:G17923D;ENSP00000434586:G11426D;ENSP00000340554:G11618D;ENSP00000352154:G11551D	ENSP00000340554:G11618D	G	-	2	0	TTN	179163226	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.770000	0.85390	2.830000	0.97506	0.655000	0.94253	GGC	.		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179454980	C	T	179454980	3	4	35	1	0	0	0	0	1	0	0	0	16784	739	26	3	46743	3	TTN	2	179454980	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	13978700	179454980	63744393	22	5403											
FSIP2	401024	broad.mit.edu;bcgsc.ca	37	2	186661056	186661056	+	Missense_Mutation	SNP	C	C	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:186661056C>A	ENST00000424728.1	+	16	9193	c.9193C>A	c.(9193-9195)Cag>Aag	p.Q3065K	FSIP2_ENST00000343098.5_Missense_Mutation_p.Q3154K|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3065										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGAAAACATACAGAATATCCT	0.308																																					p.Q3154K													.	FSIP2	251	0			c.C9460A						.																																			SO:0001583	missense	401024	exon16			AACATACAGAATA	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.9193C>A	2.37:g.186661056C>A	ENSP00000401306:p.Gln3065Lys	62	0		77	9	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	C	1.457	-0.563367	0.03939	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.50548	0.74;0.75	5.32	2.48	0.30137	.	0.404750	0.21230	N	0.077997	T	0.48696	0.1514	L	0.52573	1.65	0.09310	N	0.999999	.	.	.	.	.	.	T	0.42666	-0.9438	8	0.72032	D	0.01	.	10.2674	0.43462	0.1287:0.5781:0.2932:0.0	.	.	.	.	K	3154;3065;3065	ENSP00000344403:Q3154K;ENSP00000401306:Q3065K	ENSP00000321903:Q3065K	Q	+	1	0	FSIP2	186369301	0.137000	0.22531	0.064000	0.19789	0.001000	0.01503	0.188000	0.17018	0.080000	0.16959	-1.466000	0.01016	CAG	.		0.308	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		A	186661056	C	A	186661056	3	1	35	1	0	0	0	0	1	0	0	0	6099	479	17	3	9522	3	FSIP2	2	186661056	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	7206076	186661056	56538317	23	5404											
STK36	27148	hgsc.bcm.edu;bcgsc.ca	37	2	219561301	219561301	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:219561301C>T	ENST00000295709.3	+	22	2842	c.2563C>T	c.(2563-2565)Ctt>Ttt	p.L855F	STK36_ENST00000392106.2_Intron|STK36_ENST00000440309.1_Missense_Mutation_p.L855F|STK36_ENST00000392105.3_Intron	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)		CCTCCTTATCCTTCTGTTGCA	0.507																																					p.L855F		.											.	.	.	0			c.C2563T						.						170	150	157					2																	219561301		2203	4300	6503	SO:0001583	missense	27148	exon22			CTTATCCTTCTGT	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.2563C>T	2.37:g.219561301C>T	ENSP00000295709:p.Leu855Phe	62	0		82	4	NM_015690		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070037	0.76301	.	.	ENSG00000163482	ENST00000295709;ENST00000440309	T;T	0.78595	-1.19;-1.19	5.43	5.43	0.79202	.	0.000000	0.40728	N	0.001030	T	0.79387	0.4437	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.80339	-0.1424	10	0.72032	D	0.01	-14.991	11.5516	0.50723	0.0:0.9181:0.0:0.0819	.	855	Q9NRP7	STK36_HUMAN	F	855	ENSP00000295709:L855F;ENSP00000394095:L855F	ENSP00000295709:L855F	L	+	1	0	STK36	219269545	0.969000	0.33509	0.843000	0.33291	0.960000	0.62799	1.275000	0.33144	2.824000	0.97209	0.655000	0.94253	CTT	.		0.507	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			T	219561301	C	T	219561301	3	4	35	1	0	0	0	0	1	0	0	0	15349	681	24	3	2645	3	STK36	2	219561301	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	32900245	219561301	23638072	24	5405											
SPEG	10290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	220329177	220329177	+	Missense_Mutation	SNP	C	C	T	rs539214212		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:220329177C>T	ENST00000312358.7	+	9	2860	c.2728C>T	c.(2728-2730)Cgc>Tgc	p.R910C	SPEG_ENST00000396698.1_Missense_Mutation_p.R806C|SPEG_ENST00000396686.1_Missense_Mutation_p.R61C|SPEG_ENST00000396695.2_Missense_Mutation_p.R118C|SPEG_ENST00000396689.2_Missense_Mutation_p.R61C|SPEG_ENST00000396688.1_Missense_Mutation_p.R61C|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	910	Ig-like 3.				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)		CCAGCCCGTGCGCCCAGACCA	0.657																																					p.R910C		.											SPEG,NS,carcinoma,-1,1	SPEG	-1	0			c.C2728T						.						54	61	59					2																	220329177		2061	4197	6258	SO:0001583	missense	10290	exon9			CCCGTGCGCCCAG	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.2728C>T	2.37:g.220329177C>T	ENSP00000311684:p.Arg910Cys	22	0		30	4	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592270	0.86953	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001052	T	0.77685	0.4167	M	0.62209	1.925	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.973;0.931;0.994	T	0.79009	-0.1978	10	0.62326	D	0.03	.	11.3349	0.49498	0.2308:0.7692:0.0:0.0	.	910;118;806	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	C	910;910;806;118;61;61;61	ENSP00000311684:R910C;ENSP00000379926:R806C;ENSP00000379923:R118C;ENSP00000379919:R61C;ENSP00000379917:R61C;ENSP00000379920:R61C	ENSP00000265327:R910C	R	+	1	0	SPEG	220037421	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.347000	0.65998	2.381000	0.81170	0.561000	0.74099	CGC	.		0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220329177	C	T	220329177	3	4	35	1	0	0	0	0	1	0	0	0	15083	768	27	1	2762	1	SPEG	2	220329177	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	767876	220329177	22870196	25	5406											
IRS1	3667	broad.mit.edu	37	2	227660543	227660543	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:227660543C>T	ENST00000305123.5	-	1	3932	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E	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)		GCTAGCAGCCCCGGGAGGTGC	0.652																																					p.G971E													.	IRS1	141	0			c.G2912A						.						41	48	46					2																	227660543		2203	4300	6503	SO:0001583	missense	3667	exon1			GCAGCCCCGGGAG		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.2912G>A	2.37:g.227660543C>T	ENSP00000304895:p.Gly971Glu	18	0		23	3	NM_005544		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537287	0.27475	.	.	ENSG00000169047	ENST00000305123	T	0.55052	0.54	5.39	5.39	0.77823	.	0.244505	0.30639	N	0.009181	T	0.26593	0.0650	N	0.03608	-0.345	0.09310	N	0.999999	B	0.19200	0.034	B	0.20184	0.028	T	0.09662	-1.0664	10	0.25751	T	0.34	-19.979	8.0205	0.30406	0.0:0.8355:0.0:0.1645	.	971	P35568	IRS1_HUMAN	E	971	ENSP00000304895:G971E	ENSP00000304895:G971E	G	-	2	0	IRS1	227368787	0.182000	0.23173	0.584000	0.28653	0.847000	0.48162	3.363000	0.52321	2.804000	0.96469	0.655000	0.94253	GGG	.		0.652	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227660543	C	T	227660543	3	4	35	1	0	0	0	0	1	0	0	0	7867	623	22	3	820	3	IRS1	2	227660543	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	7331366	227660543	15538830	26	5407											
SLC19A3	80704	hgsc.bcm.edu	37	2	228564115	228564115	+	Missense_Mutation	SNP	T	T	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:228564115T>C	ENST00000258403.3	-	3	387	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	106					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)	p.M106V(1)		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)	ACAACCTGCATGGTCTTCACT	0.527																																					p.M106V		.											SLC19A3,NS,carcinoma,0,1	SLC19A3	0	1	Substitution - Missense(1)	lung(1)	c.A316G						.						122	121	122					2																	228564115		2203	4300	6503	SO:0001583	missense	80704	exon3			CCTGCATGGTCTT	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.316A>G	2.37:g.228564115T>C	ENSP00000258403:p.Met106Val	45	0		60	2	NM_025243		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758319	0.89843	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	T;T;T	0.80480	-1.38;-1.38;0.37	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);	0.068694	0.85682	D	0.000000	D	0.89546	0.6746	M	0.92555	3.32	0.80722	D	1	P;P	0.46395	0.743;0.877	P;P	0.51742	0.547;0.678	D	0.90947	0.4802	10	0.49607	T	0.09	-50.9321	16.3351	0.83056	0.0:0.0:0.0:1.0	.	102;106	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	106;102;106	ENSP00000258403:M106V;ENSP00000445519:M102V;ENSP00000399001:M106V	ENSP00000258403:M106V	M	-	1	0	SLC19A3	228272359	1.000000	0.71417	0.975000	0.42487	0.948000	0.59901	7.882000	0.87258	2.262000	0.75019	0.528000	0.53228	ATG	.		0.527	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			C	228564115	T	C	228564115	3	2	35	1	0	0	0	0	1	0	0	0	14475	1464	51	4	1190	4	SLC19A3	2	228564115	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	903572	228564115	14635258	27	5408											
SPHKAP	80309	hgsc.bcm.edu	37	2	228996763	228996763	+	Missense_Mutation	SNP	G	G	T	rs141195352		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr2:228996763G>T	ENST00000392056.3	-	2	117	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P24Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	24						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)		GCCCTGCTGCGGTTCCAAAAC	0.478																																					p.P24Q		.											SPHKAP_ENST00000392056,NS,carcinoma,+1,2	SPHKAP_ENST00000392056	+1	0			c.C71A						.						88	91	90					2																	228996763		2203	4300	6503	SO:0001583	missense	80309	exon2			TGCTGCGGTTCCA		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.71C>A	2.37:g.228996763G>T	ENSP00000375909:p.Pro24Gln	59	0		52	3	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211025	0.09757	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.55413	0.52;0.52	4.55	1.78	0.24846	.	1.862920	0.02479	N	0.088282	T	0.43765	0.1262	N	0.14661	0.345	0.09310	N	1	P;P	0.48407	0.854;0.91	B;P	0.47162	0.339;0.54	T	0.37337	-0.9710	10	0.42905	T	0.14	.	6.8536	0.24028	0.2869:0.0:0.7131:0.0	.	24;24	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	24	ENSP00000375909:P24Q;ENSP00000339886:P24Q	ENSP00000339886:P24Q	P	-	2	0	SPHKAP	228705007	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.823000	0.27366	0.423000	0.26033	0.655000	0.94253	CCG	.		0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228996763	G	T	228996763	3	4	35	1	0	0	0	0	1	0	0	0	15095	1116	39	2	5075	2	SPHKAP	2	228996763	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	432648	228996763	14202610	28	5409											
IQSEC1	9922	hgsc.bcm.edu	37	3	12942851	12942851	+	Intron	SNP	C	C	G	rs397988742|rs56387830		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr3:12942851C>G	ENST00000273221.4	-	13	3064					NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1						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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGGGGTGGCCAGGGCTGGG	0.697																																					.		.											.,1	.	88	0			c.2976+1G>C						.						1	1	1					3																	12942851		180	413	593	SO:0001627	intron_variant	9922	exon15			GGGTGGCCAGGGC	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2847+1421G>C	3.37:g.12942851C>G		9	1		13	5	NM_001134382	O94863|Q96D85	Splice_Site	SNP	ENST00000273221.4	37	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|-	0.001|0.001	-2.938040|-2.938040	0.00052|0.00052	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000435445|ENST00000429247	.|T	.|0.43294	.|0.95	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30230	.|0.0758	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27971	.|-1.0058	.|4	.|0.29301	.|T	.|0.29	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|P	-1|993	.|ENSP00000402299:A993P	.|ENSP00000402299:A993P	.|A	-|-	.|1	.|0	IQSEC1|IQSEC1	12917851|12917851	0.031000|0.031000	0.19500|0.19500	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	-0.760000|-0.760000	0.04756|0.04756	0.000000|0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	.|GCC	.		0.697	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		G	12942851	C	G	12942851	1	3	35	0	1	0	0	0	0	0	0	0	7844	739	26	5		5	IQSEC1	3	12942851	Intron	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09		12942851	185079579	29	5410											
DZIP3	9666	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	108361320	108361320	+	Missense_Mutation	SNP	C	C	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr3:108361320C>G	ENST00000361582.3	+	13	1330	c.1100C>G	c.(1099-1101)aCt>aGt	p.T367S	DZIP3_ENST00000463306.1_Missense_Mutation_p.T367S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	367					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATAACTGATACTGATATAAGA	0.244																																					p.T367S		.											.	.	.	0			c.C1100G						.						20	19	20					3																	108361320		2106	4122	6228	SO:0001583	missense	9666	exon13			CTGATACTGATAT	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1100C>G	3.37:g.108361320C>G	ENSP00000355028:p.Thr367Ser	73	0		117	6	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555844	0.27827	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.39592	1.07;1.07;1.07	4.93	3.0	0.34707	.	0.257891	0.28001	N	0.016989	T	0.21841	0.0526	N	0.12182	0.205	0.25656	N	0.986055	B;P	0.34864	0.001;0.473	B;B	0.24848	0.006;0.056	T	0.22591	-1.0212	10	0.87932	D	0	-14.1257	11.2103	0.48795	0.0:0.6407:0.3593:0.0	.	367;367	C9J9M8;Q86Y13	.;DZIP3_HUMAN	S	367	ENSP00000355028:T367S;ENSP00000418115:T367S;ENSP00000419981:T367S	ENSP00000355028:T367S	T	+	2	0	DZIP3	109844010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.649000	0.24843	1.433000	0.47394	0.655000	0.94253	ACT	.		0.244	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		G	108361320	C	G	108361320	3	3	35	1	0	0	0	0	1	0	0	0	4879	565	20	5	1146	5	DZIP3	3	108361320	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	95418469	108361320	89661110	30	5411											
FGFRL1	53834	hgsc.bcm.edu;broad.mit.edu	37	4	1018129	1018129	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:1018129G>A	ENST00000398484.2	+	7	1329	c.749G>A	c.(748-750)gGc>gAc	p.G250D	FGFRL1_ENST00000264748.6_Missense_Mutation_p.G250D|FGFRL1_ENST00000510644.1_Missense_Mutation_p.G250D|FGFRL1_ENST00000504138.1_Missense_Mutation_p.G250D			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	250	Ig-like C2-type 3.				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)			GTGCTCACAGGCACGCACCCC	0.697																																					p.G250D		.											.	.	.	0			c.G749A						.						49	47	48					4																	1018129		2201	4276	6477	SO:0001583	missense	53834	exon6			TCACAGGCACGCA		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.749G>A	4.37:g.1018129G>A	ENSP00000381498:p.Gly250Asp	38	0		43	4	NM_001004356	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.932480	0.73442	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.24	5.24	0.73138	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86244	0.1645	10	0.87932	D	0	-34.657	17.8483	0.88737	0.0:0.0:1.0:0.0	.	250	Q8N441	FGRL1_HUMAN	D	250;220;250;250;250	ENSP00000381498:G250D;ENSP00000425025:G250D;ENSP00000423091:G250D;ENSP00000264748:G250D	ENSP00000264748:G250D	G	+	2	0	FGFRL1	1008129	1.000000	0.71417	0.995000	0.50966	0.326000	0.28443	5.223000	0.65283	2.461000	0.83175	0.567000	0.79289	GGC	.		0.697	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		A	1018129	G	A	1018129	3	1	35	1	0	0	0	0	1	0	0	0	5891	1203	42	3	767	3	FGFRL1	4	1018129	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		1018129	190136147	31	5412											
FAM193A	8603	hgsc.bcm.edu	37	4	2698298	2698298	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:2698298G>T	ENST00000324666.5	+	16	2963	c.2612G>T	c.(2611-2613)cGa>cTa	p.R871L	FAM193A_ENST00000382839.3_Missense_Mutation_p.R871L|FAM193A_ENST00000502458.1_Missense_Mutation_p.R893L|FAM193A_ENST00000505311.1_Missense_Mutation_p.R871L|FAM193A_ENST00000545951.1_Missense_Mutation_p.R871L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	871								p.R871Q(1)		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						GCAGCGAAGCGAGCAAGGCAT	0.552																																					p.R893L		.											FAM193A,NS,carcinoma,0,1	FAM193A	0	1	Substitution - Missense(1)	lung(1)	c.G2678T						.						60	57	58					4																	2698298		2203	4300	6503	SO:0001583	missense	8603	exon17			CGAAGCGAGCAAG	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.2612G>T	4.37:g.2698298G>T	ENSP00000324587:p.Arg871Leu	42	0		41	2	NM_001256667	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107830	0.77096	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.50277	0.78;1.18;0.76;0.78;0.75	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.71036	2.16	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	0.998;0.998;0.998;0.998;0.998	T	0.72357	-0.4318	10	0.72032	D	0.01	-16.0167	17.8501	0.88744	0.0:0.0:1.0:0.0	.	871;893;871;893;871	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	L	871;871;871;893;725	ENSP00000372290:R871L;ENSP00000324587:R871L;ENSP00000443617:R871L;ENSP00000427505:R893L;ENSP00000427260:R725L	ENSP00000324587:R871L	R	+	2	0	FAM193A	2668096	1.000000	0.71417	0.937000	0.37676	0.263000	0.26337	9.644000	0.98468	2.464000	0.83262	0.603000	0.83216	CGA	.		0.552	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		T	2698298	G	T	2698298	3	4	35	1	0	0	0	0	1	0	0	0	5543	1058	37	2	2666	2	FAM193A	4	2698298	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	1680169	2698298	188455978	32	5413											
WDR19	57728	bcgsc.ca	37	4	39226502	39226502	+	Splice_Site	SNP	A	A	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:39226502A>T	ENST00000399820.3	+	15	1633		c.e15-1		WDR19_ENST00000288634.7_Splice_Site	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19						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						TTTTTTTTTTAGACTGGTGTC	0.313																																					.													.	WDR19	96	0			c.1480-2A>T						.						16	15	16					4																	39226502		1783	4061	5844	SO:0001630	splice_region_variant	57728	exon15			TTTTTTAGACTGG	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.1480-1A>T	4.37:g.39226502A>T		49	3		71	11	NM_025132	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Splice_Site	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231736	0.79688	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0245	0.71659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR19	38902897	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	8.335000	0.90031	2.285000	0.76669	0.477000	0.44152	.	.		0.313	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		Intron	T	39226502	A	T	39226502	5	4	35	1	0	0	0	0	0	0	1	0	17328	434	15	5	1536	5	WDR19	4	39226502	Splice_Site	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	36528204	39226502	151927774	33	5414											
CORIN	10699	hgsc.bcm.edu	37	4	47625641	47625641	+	Silent	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:47625641G>T	ENST00000273857.4	-	19	2486	c.2487C>A	c.(2485-2487)ggC>ggA	p.G829G	CORIN_ENST00000502252.1_Silent_p.G762G|CORIN_ENST00000505909.1_Silent_p.G792G|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Silent_p.G690G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	829	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.G829G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGAGGACACAGCCACAGATAT	0.522																																					p.G829G		.											CORIN,medulla,primitive_neuroectodermal_tumour-medulloblastoma,0,1	CORIN	0	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C2487A						.						108	103	105					4																	47625641		2203	4300	6503	SO:0001819	synonymous_variant	10699	exon19			GACACAGCCACAG	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2487C>A	4.37:g.47625641G>T		34	0		65	3	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																			.		0.522	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			T	47625641	G	T	47625641	2	4	35	1	0	0	0	0	0	0	0	1	3759	958	34	3		3	CORIN	4	47625641	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	8399139	47625641	143528635	34	5415											
ABCG2	9429	hgsc.bcm.edu	37	4	89060947	89060947	+	Silent	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:89060947G>T	ENST00000237612.3	-	2	746	c.201C>A	c.(199-201)atC>atA	p.I67I	ABCG2_ENST00000515655.1_Silent_p.I67I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	67	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GTACATACTTGATATTCGATA	0.343																																					p.I67I		.											.	.	.	0			c.C201A						.						57	52	54					4																	89060947		2203	4300	6503	SO:0001819	synonymous_variant	9429	exon2			ATACTTGATATTC	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.201C>A	4.37:g.89060947G>T		70	0		89	4	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	CCDS3628.1																																																																																			.		0.343	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		T	89060947	G	T	89060947	2	4	35	1	0	0	0	0	0	0	0	1	69	1280	45	3		3	ABCG2	4	89060947	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	41435306	89060947	102093329	35	5416											
BBS7	55212	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	122775917	122775917	+	Missense_Mutation	SNP	C	C	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:122775917C>G	ENST00000264499.4	-	7	843	c.660G>C	c.(658-660)caG>caC	p.Q220H	BBS7_ENST00000506636.1_Missense_Mutation_p.Q220H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	220					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATGTAGTAATCTGTATAAGCG	0.358									Bardet-Biedl syndrome																												p.Q220H		.											.	.	.	0			c.G660C						.						126	122	123					4																	122775917		2203	4300	6503	SO:0001583	missense	55212	exon7	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AGTAATCTGTATA	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.660G>C	4.37:g.122775917C>G	ENSP00000264499:p.Gln220His	63	0		77	8	NM_018190	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518933	0.27211	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.70282	-0.47;-0.47	5.11	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.128317	0.53938	D	0.000045	T	0.49745	0.1575	N	0.19112	0.55	0.40914	D	0.984255	B	0.13145	0.007	B	0.11329	0.006	T	0.43766	-0.9371	10	0.35671	T	0.21	-8.7986	4.9907	0.14213	0.1521:0.6216:0.0:0.2263	.	220	Q8IWZ6	BBS7_HUMAN	H	220	ENSP00000264499:Q220H;ENSP00000423626:Q220H	ENSP00000264499:Q220H	Q	-	3	2	BBS7	122995367	0.999000	0.42202	1.000000	0.80357	0.722000	0.41435	0.747000	0.26290	1.296000	0.44742	0.650000	0.86243	CAG	.		0.358	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			G	122775917	C	G	122775917	3	3	35	1	0	0	0	0	1	0	0	0	1342	912	32	5	1544	5	BBS7	4	122775917	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	33714970	122775917	68378359	36	5417											
KIAA1109	84162	hgsc.bcm.edu;bcgsc.ca	37	4	123245634	123245634	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:123245634G>T	ENST00000264501.4	+	64	11220	c.10847G>T	c.(10846-10848)cGa>cTa	p.R3616L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3616L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3616L			Q2LD37	K1109_HUMAN	KIAA1109	3616					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						AGTTACAGCCGATCAAAAAGC	0.378																																					p.R3616L		.											.	.	.	0			c.G10847T						.						89	80	83					4																	123245634		1828	4091	5919	SO:0001583	missense	84162	exon62			ACAGCCGATCAAA	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.10847G>T	4.37:g.123245634G>T	ENSP00000264501:p.Arg3616Leu	90	0		87	4	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.639064|4.639064	0.87760|0.87760	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707	.|T;T;T;T	.|0.49139	.|1.92;1.92;1.28;0.79	5.83|5.83	4.98|4.98	0.66077|0.66077	.|.	.|0.187991	.|0.34750	.|N	.|0.003718	T|T	0.40498|0.40498	0.1119|0.1119	L|L	0.59436|0.59436	1.845|1.845	0.46678|0.46678	D|D	0.999155|0.999155	.|B;P	.|0.40515	.|0.275;0.719	.|B;B	.|0.26517	.|0.066;0.07	T|T	0.51810|0.51810	-0.8658|-0.8658	5|10	.|0.72032	.|D	.|0.01	.|.	15.326|15.326	0.74164|0.74164	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	.|3616;3616	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	Y|L	6|3616;3616;3616;299	.|ENSP00000264501:R3616L;ENSP00000373390:R3616L;ENSP00000389925:R3616L;ENSP00000410874:R299L	.|ENSP00000264501:R3616L	D|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123465084|123465084	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.826000|0.826000	0.46750|0.46750	9.394000|9.394000	0.97261|0.97261	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	GAT|CGA	.		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123245634	G	T	123245634	3	4	35	1	0	0	0	0	1	0	0	0	8235	1058	37	2	11093	2	KIAA1109	4	123245634	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	469717	123245634	67908642	37	5418											
FRG1	2483	hgsc.bcm.edu	37	4	190884267	190884267	+	Missense_Mutation	SNP	G	G	A	rs373037319		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr4:190884267G>A	ENST00000226798.4	+	9	982	c.760G>A	c.(760-762)Gac>Aac	p.D254N		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	254					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)		ATTGAAAGCCGACAGATACTG	0.299																																					p.D254N		.											FRG1,middle_lobe,carcinoma,0,1	FRG1	0	0			c.G760A						.						99	111	107					4																	190884267		2203	4300	6503	SO:0001583	missense	2483	exon9			AAAGCCGACAGAT	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.760G>A	4.37:g.190884267G>A	ENSP00000226798:p.Asp254Asn	49	2		67	6	NM_004477	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.222509	0.79464	.	.	ENSG00000109536	ENST00000226798	T	0.65916	-0.18	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.85581	0.1240	10	0.72032	D	0.01	-19.8783	14.0213	0.64558	0.0:0.0:1.0:0.0	.	254	Q14331	FRG1_HUMAN	N	254	ENSP00000226798:D254N	ENSP00000226798:D254N	D	+	1	0	FRG1	191121261	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.201000	0.95017	1.976000	0.57569	0.479000	0.44913	GAC	.		0.299	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190884267	G	A	190884267	3	1	35	1	0	0	0	0	1	0	0	0	6070	1058	37	1	794	1	FRG1	4	190884267	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	67638633	190884267	270009	38	5419											
SLC9A3	6550	broad.mit.edu	37	5	476666	476666	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr5:476666G>A	ENST00000264938.3	-	12	1891	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.R619W|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	628	Interaction with PDZD3. {ECO:0000250}.				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)			ACCTCCTGCCGCGGCTTGTAC	0.701																																					p.R628W													.	SLC9A3	89	0			c.C1882T						.						35	34	34					5																	476666		2203	4300	6503	SO:0001583	missense	6550	exon12			CCTGCCGCGGCTT		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.1882C>T	5.37:g.476666G>A	ENSP00000264938:p.Arg628Trp	13	0		19	3	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158107	0.38119	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.79247	-1.25;-1.25	4.8	-0.0633	0.13777	.	0.164075	0.52532	D	0.000069	D	0.86201	0.5876	M	0.86864	2.845	0.22926	N	0.99855	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.94	T	0.76857	-0.2804	10	0.87932	D	0	.	8.1004	0.30854	0.0886:0.0:0.3697:0.5417	.	619;628	E9PF67;P48764	.;SL9A3_HUMAN	W	628;619	ENSP00000264938:R628W;ENSP00000422983:R619W	ENSP00000264938:R628W	R	-	1	2	SLC9A3	529666	0.291000	0.24352	0.211000	0.23655	0.152000	0.21847	1.773000	0.38563	0.052000	0.16007	0.561000	0.74099	CGG	.		0.701	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		A	476666	G	A	476666	3	1	35	1	0	0	0	0	1	0	0	0	14758	1086	38	1	646	1	SLC9A3	5	476666	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		476666	180438594	39	5420											
CDH12	1010	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	21842369	21842369	+	Missense_Mutation	SNP	C	C	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr5:21842369C>A	ENST00000382254.1	-	8	1801	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	CDH12_ENST00000522262.1_Missense_Mutation_p.A199S|CDH12_ENST00000504376.2_Missense_Mutation_p.A239S|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	239	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)	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						ATATCCTTGGCTTGGATGAGT	0.403										HNSCC(59;0.17)																											p.A239S		.											.	.	.	0			c.G715T						.						289	224	246					5																	21842369		2203	4300	6503	SO:0001583	missense	1010	exon8			CCTTGGCTTGGAT	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.715G>T	5.37:g.21842369C>A	ENSP00000371689:p.Ala239Ser	75	0		89	8	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518665	0.96416	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.75477	-0.59;-0.59;-0.94	5.34	5.34	0.76211	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91136	0.7209	H	0.96208	3.785	0.58432	D	0.999999	D;D	0.62365	0.989;0.991	P;D	0.83275	0.831;0.996	D	0.93770	0.7074	10	0.87932	D	0	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	199;239	B7Z2U6;P55289	.;CAD12_HUMAN	S	239;239;199	ENSP00000423577:A239S;ENSP00000371689:A239S;ENSP00000428786:A199S	ENSP00000371689:A239S	A	-	1	0	CDH12	21878126	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.666000	0.83877	2.480000	0.83734	0.655000	0.94253	GCC	.		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	21842369	C	A	21842369	3	1	35	1	0	0	0	0	1	0	0	0	3105	797	28	3	1701	3	CDH12	5	21842369	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	21365703	21842369	159072891	40	5421											
SLC12A2	6558	hgsc.bcm.edu	37	5	127522246	127522246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr5:127522246G>T	ENST00000262461.2	+	27	3751	c.3562G>T	c.(3562-3564)Gaa>Taa	p.E1188*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.E1172*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1188					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GGCATGGTTAGAAGCTCTATC	0.433																																					p.E1188X		.											.	.	.	0			c.G3562T						.						203	181	189					5																	127522246		2203	4300	6503	SO:0001587	stop_gained	6558	exon27			TGGTTAGAAGCTC		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3562G>T	5.37:g.127522246G>T	ENSP00000262461:p.Glu1188*	62	0		80	4	NM_001046	Q8N713|Q8WWH7	Nonsense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	41	8.670440	0.98908	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.48	5.48	0.80851	.	0.050826	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5559	0.95347	0.0:0.0:1.0:0.0	.	.	.	.	X	1188;1172	.	ENSP00000262461:E1188X	E	+	1	0	SLC12A2	127550145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.861000	0.98227	0.650000	0.86243	GAA	.		0.433	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		T	127522246	G	T	127522246	4	4	35	1	0	0	0	0	0	1	0	0	14428	943	33	3	3668	3	SLC12A2	5	127522246	Nonsense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	105679877	127522246	53393014	41	5422											
PCDHB16	57717	hgsc.bcm.edu	37	5	140563836	140563836	+	Missense_Mutation	SNP	G	G	A	rs535302272	byFrequency	TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr5:140563836G>A	ENST00000361016.2	+	1	2857	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	568	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)			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)			GCTGCAGAACGGCTCCGCGCC	0.711													G|||	2	0.000399361	8e-04	0	5008	,	,		13663	0		0	False		,,,				2504	0.001				p.G568S		.											PCDHB16,NS,carcinoma,0,1	PCDHB16	0	0			c.G1702A						.						14	17	16					5																	140563836		1969	3923	5892	SO:0001583	missense	57717	exon1			CAGAACGGCTCCG	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.1702G>A	5.37:g.140563836G>A	ENSP00000354293:p.Gly568Ser	61	1		69	3	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	12.66	2.005258	0.35415	.	.	ENSG00000196963	ENST00000361016	T	0.60797	0.16	4.12	2.28	0.28536	Cadherin (1);Cadherin-like (1);	1.832600	0.03875	N	0.276324	T	0.41719	0.1171	N	0.20807	0.61	0.09310	N	1	B	0.22003	0.063	B	0.17979	0.02	T	0.27123	-1.0083	10	0.45353	T	0.12	.	3.1416	0.06457	0.2646:0.0:0.4112:0.3242	.	568	Q9NRJ7	PCDBG_HUMAN	S	568	ENSP00000354293:G568S	ENSP00000354293:G568S	G	+	1	0	PCDHB16	140544020	0.000000	0.05858	0.984000	0.44739	0.978000	0.69477	0.941000	0.29005	0.212000	0.20703	0.479000	0.44913	GGC	.		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140563836	G	A	140563836	3	1	35	1	0	0	0	0	1	0	0	0	11580	1116	39	1	1704	1	PCDHB16	5	140563836	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	13041590	140563836	40351424	42	5423											
PCDHGA4	56111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140735956	140735956	+	Missense_Mutation	SNP	A	A	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr5:140735956A>G	ENST00000571252.1	+	1	1189	c.1189A>G	c.(1189-1191)Acc>Gcc	p.T397A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	397	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			acttgaaaagaCCTATGGAAA	0.423																																					p.T397A		.											.	.	.	0			c.A1189G						.						34	33	33					5																	140735956		1895	4100	5995	SO:0001583	missense	56111	exon1			GAAAAGACCTATG	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.1189A>G	5.37:g.140735956A>G	ENSP00000458570:p.Thr397Ala	38	0		43	9	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																			.		0.423	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		G	140735956	A	G	140735956	3	3	35	1	0	0	0	0	1	0	0	0	11595	275	10	4	1191	4	PCDHGA4	5	140735956	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	172120	140735956	40179304	43	5424											
TUBB	203068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	30691487	30691487	+	Silent	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr6:30691487G>A	ENST00000327892.8	+	4	954	c.648G>A	c.(646-648)aaG>aaA	p.K216K	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396389.1_Silent_p.K198K|TUBB_ENST00000330914.3_Silent_p.K144K|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.K144K	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	216				K -> R (in Ref. 1; no nucleotide entry and 2; AAB59507). {ECO:0000305}.	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)	GCACTCTGAAGCTGACCACAC	0.537																																					p.K216K		.											.	.	.	0			c.G648A						.						102	95	97					6																	30691487		2203	4300	6503	SO:0001819	synonymous_variant	203068	exon4			TCTGAAGCTGACC	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	ENST00000327892.8:c.648G>A	6.37:g.30691487G>A		40	0		52	5	NM_178014	P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																			.		0.537	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		A	30691487	G	A	30691487	2	1	35	1	0	0	0	0	0	0	0	1	16801	962	34	3		3	TUBB	6	30691487	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		30691487	140423580	44	5425											
MUC21	394263	hgsc.bcm.edu	37	6	30954701	30954701	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr6:30954701G>A	ENST00000376296.3	+	2	990	c.749G>A	c.(748-750)aGt>aAt	p.S250N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	250	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						ACACCCTCCAGTGGGGCCGGC	0.642																																					p.S250N		.											.	.	.	0			c.G749A						.						135	139	138					6																	30954701		2203	4300	6503	SO:0001583	missense	394263	exon2			CCTCCAGTGGGGC	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.749G>A	6.37:g.30954701G>A	ENSP00000365473:p.Ser250Asn	71	0		72	4	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643436	0.29246	.	.	ENSG00000204544	ENST00000376296	T	0.03242	4.0	4.3	-4.76	0.03229	.	.	.	.	.	T	0.00724	0.0024	N	0.24115	0.695	0.09310	N	1	B	0.29988	0.264	B	0.24701	0.055	T	0.44997	-0.9291	8	.	.	.	.	8.3658	0.32385	0.3257:0.5183:0.156:0.0	rs9262363;rs9262363	250	Q5SSG8	MUC21_HUMAN	N	250	ENSP00000365473:S250N	.	S	+	2	0	MUC21	31062680	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.496000	0.00970	-0.734000	0.04843	-0.326000	0.08463	AGT	.		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30954701	G	A	30954701	3	1	35	1	0	0	0	0	1	0	0	0	10015	1029	36	3	755	3	MUC21	6	30954701	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	263214	30954701	140160366	45	5426											
DAXX	1616	hgsc.bcm.edu	37	6	33288173	33288173	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr6:33288173G>T	ENST00000374542.5	-	4	1439	c.1235C>A	c.(1234-1236)tCc>tAc	p.S412Y	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.S412Y|DAXX_ENST00000414083.2_Missense_Mutation_p.S337Y|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	412	Interaction with histone H3.3.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGAATCCAAGGAGGCTTCGGG	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																p.S424Y		.		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	DAXX,NS,carcinoma,0,1	DAXX	0	0			c.C1271A						.						92	91	91					6																	33288173		2203	4300	6503	SO:0001583	missense	1616	exon4			TCCAAGGAGGCTT	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1235C>A	6.37:g.33288173G>T	ENSP00000363668:p.Ser412Tyr	31	0		47	2	NM_001141970	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232506	0.39498	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.28	4.28	0.50868	.	0.559138	0.17614	N	0.167980	T	0.70448	0.3225	M	0.65975	2.015	0.42964	D	0.994418	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.977;0.977	T	0.73566	-0.3942	9	0.72032	D	0.01	-10.7953	12.0878	0.53708	0.0:0.0:1.0:0.0	.	424;412;412	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	Y	412;412;337	.	ENSP00000266000:S412Y	S	-	2	0	DAXX	33396151	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.790000	0.38734	2.227000	0.72691	0.549000	0.68633	TCC	.		0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			T	33288173	G	T	33288173	3	4	35	1	0	0	0	0	1	0	0	0	4252	1174	41	3	1007	3	DAXX	6	33288173	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	2333472	33288173	137826894	46	5427											
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu	37	6	102074369	102074369	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr6:102074369G>A	ENST00000421544.1	+	3	888	c.398G>A	c.(397-399)cGc>cAc	p.R133H	GRIK2_ENST00000369137.3_Missense_Mutation_p.R133H|GRIK2_ENST00000369138.1_Missense_Mutation_p.R133H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R84H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R133H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R133H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R133H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	133					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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 cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATACAGACCCGCTGGAAGCAC	0.527																																					p.R133H		.											.	.	.	0			c.G398A						.						121	119	120					6																	102074369		2203	4300	6503	SO:0001583	missense	2898	exon3			AGACCCGCTGGAA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.398G>A	6.37:g.102074369G>A	ENSP00000397026:p.Arg133His	16	0		44	4	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001121	0.54254	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.173217	0.48767	D	0.000176	T	0.76941	0.4058	L	0.61387	1.9	0.46011	D	0.998815	B;B;B	0.16603	0.018;0.009;0.018	B;B;B	0.11329	0.005;0.006;0.003	T	0.71876	-0.4460	10	0.42905	T	0.14	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	133;133;133	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	133;133;133;133;133;133;133;84;95	ENSP00000397026:R133H;ENSP00000405596:R133H;ENSP00000358134:R133H;ENSP00000351128:R133H;ENSP00000358133:R133H;ENSP00000313276:R133H;ENSP00000358130:R84H	ENSP00000313276:R133H	R	+	2	0	GRIK2	102181062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.082000	0.71318	2.718000	0.92993	0.655000	0.94253	CGC	.		0.527	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			A	102074369	G	A	102074369	3	1	35	1	0	0	0	0	1	0	0	0	6801	1087	38	1	408	1	GRIK2	6	102074369	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	68786196	102074369	69040698	47	5428											
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				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.L532*(2)		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)		TTTTTTTTTTAAAGGTTTCTT	0.368																																					p.L532X													SEC63,NS,carcinoma,0,1	SEC63	79	2	Substitution - Nonsense(2)	lung(1)|kidney(1)	c.T1595A						.						114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231	exon16			TTTTTTAAAGGTT	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.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*	94	1		110	5	NM_007214	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA	.		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		T	108214765	A	T	108214765	4	4	35	1	0	0	0	0	0	1	0	0	14050	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	6140396	108214765	62900302	48	5429											
C6orf72	116254	hgsc.bcm.edu;bcgsc.ca	37	6	149911865	149911865	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr6:149911865G>T	ENST00000367419.5	+	8	1005	c.884G>T	c.(883-885)gGa>gTa	p.G295V	RP1-12G14.7_ENST00000419134.1_RNA	NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	295						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TATTTCAGAGGAATTCTTCAG	0.348																																					p.G295V		.											.	.	.	0			c.G884T						.						68	66	67					6																	149911865		2203	4300	6503	SO:0001583	missense	116254	exon8			TCAGAGGAATTCT	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 72"	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.884G>T	6.37:g.149911865G>T	ENSP00000356389:p.Gly295Val	52	0		73	4	NM_138785	B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595982	0.66332	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.77	4.89	0.63831	.	0.256928	0.39909	N	0.001229	T	0.63390	0.2507	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.67166	-0.5739	8	.	.	.	-13.5397	9.5488	0.39297	0.0742:0.1435:0.7823:0.0	.	295	Q9NU53	CF072_HUMAN	V	295	.	.	G	+	2	0	C6orf72	149953558	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.678000	0.46900	1.417000	0.47077	0.655000	0.94253	GGA	.		0.348	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		T	149911865	G	T	149911865	3	4	35	1	0	0	0	0	1	0	0	0	2378	1174	41	3	914	3	C6orf72	6	149911865	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	41697100	149911865	21203202	49	5430											
MIOS	54468	hgsc.bcm.edu	37	7	7625410	7625410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr7:7625410G>T	ENST00000340080.4	+	7	2213	c.1792G>T	c.(1792-1794)Gaa>Taa	p.E598*	MIOS_ENST00000405785.1_Nonsense_Mutation_p.E598*	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	598						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGACAAGTGAAACAGGATC	0.343																																					p.E598X		.											.	.	.	0			c.G1792T						.						148	142	144					7																	7625410		1861	4095	5956	SO:0001587	stop_gained	54468	exon7			ACAAGTGAAACAG		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1792G>T	7.37:g.7625410G>T	ENSP00000339881:p.Glu598*	60	0		77	4	NM_019005	B2RTV6|O75216|Q7L551|Q9H092	Nonsense_Mutation	SNP	ENST00000340080.4	37	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	43	10.158585	0.99349	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	.	.	.	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-18.0613	14.2079	0.65746	0.0722:0.0:0.9278:0.0	.	.	.	.	X	598	.	ENSP00000339881:E598X	E	+	1	0	MIOS	7591935	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.389000	0.97243	1.404000	0.46819	0.591000	0.81541	GAA	.		0.343	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		T	7625410	G	T	7625410	4	4	35	1	0	0	0	0	0	1	0	0	9627	1291	45	3	1806	3	MIOS	7	7625410	Nonsense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		7625410	151513253	50	5431											
EGFR	1956	broad.mit.edu	37	7	55249090	55249090	+	Silent	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr7:55249090C>T	ENST00000275493.2	+	20	2565	c.2388C>T	c.(2386-2388)ggC>ggT	p.G796G	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Silent_p.G743G|EGFR_ENST00000455089.1_Silent_p.G751G|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	TGCCCTTCGGCTGCCTCCTGG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.G796G			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,colon,carcinoma,+2,8	EGFR	20426	0			c.C2388T						.						95	82	86					7																	55249090		2203	4300	6503	SO:0001819	synonymous_variant	1956	exon20	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	CTTCGGCTGCCTC		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.2388C>T	7.37:g.55249090C>T		24	0		30	3	NM_005228	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																			.		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55249090	C	T	55249090	2	4	35	1	0	0	0	0	0	0	0	1	4981	784	28	3		3	EGFR	7	55249090	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	47623680	55249090	103889573	51	5432											
ZNF736	728927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	63809199	63809199	+	Missense_Mutation	SNP	A	A	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr7:63809199A>C	ENST00000423484.2	+	4	1080	c.958A>C	c.(958-960)Aaa>Caa	p.K320Q	ZNF736_ENST00000355095.4_Missense_Mutation_p.K320Q			B4DX44	ZN736_HUMAN	zinc finger protein 736	320					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						TGAATGTGGAAAAGCTTTTAA	0.398																																					p.K320Q		.											.	.	.	0			c.A958C						.						64	64	64					7																	63809199		692	1591	2283	SO:0001583	missense	728927	exon5			TGTGGAAAAGCTT		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.958A>C	7.37:g.63809199A>C	ENSP00000400852:p.Lys320Gln	53	0		76	11	NM_001170905		Missense_Mutation	SNP	ENST00000423484.2	37	CCDS55114.1	.	.	.	.	.	.	.	.	.	.	a	12.25	1.882326	0.33255	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.27256	1.68;1.68	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30198	0.0757	M	0.75615	2.305	0.22737	N	0.998796	P	0.47677	0.899	P	0.44897	0.463	T	0.16988	-1.0384	9	0.66056	D	0.02	.	6.0767	0.19919	1.0:0.0:0.0:0.0	.	320	B4DX44	ZN736_HUMAN	Q	320	ENSP00000347210:K320Q;ENSP00000400852:K320Q	ENSP00000347210:K320Q	K	+	1	0	ZNF736	63446634	0.986000	0.35501	0.022000	0.16811	0.008000	0.06430	2.526000	0.45607	0.471000	0.27319	0.260000	0.18958	AAA	.		0.398	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		C	63809199	A	C	63809199	3	2	35	1	0	0	0	0	1	0	0	0	18173	15	1	4	972	4	ZNF736	7	63809199	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	8560109	63809199	95329464	52	5433											
GPR85	54329	broad.mit.edu	37	7	112723989	112723989	+	Missense_Mutation	SNP	G	G	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr7:112723989G>C	ENST00000297146.3	-	3	1391	c.788C>G	c.(787-789)gCa>gGa	p.A263G	GPR85_ENST00000424100.1_Missense_Mutation_p.A263G|GPR85_ENST00000449591.1_Missense_Mutation_p.A263G|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.A263G	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	263					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						TGTGGTGTTTGCATTTTGCCT	0.478																																					p.A263G													.	GPR85	49	0			c.C788G						.						144	156	152					7																	112723989		2203	4300	6503	SO:0001583	missense	0	exon3			GTGTTTGCATTTT	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.788C>G	7.37:g.112723989G>C	ENSP00000297146:p.Ala263Gly	27	0		42	3	NM_001146265	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	3.150	-0.174413	0.06421	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.52	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.106404	0.64402	D	0.000005	T	0.13927	0.0337	N	0.01874	-0.695	0.46701	D	0.999166	B	0.02656	0.0	B	0.04013	0.001	T	0.15350	-1.0440	10	0.02654	T	1	.	16.1594	0.81686	0.0:0.1332:0.8668:0.0	.	263	P60893	GPR85_HUMAN	G	263	ENSP00000445808:A263G;ENSP00000297146:A263G;ENSP00000396763:A263G;ENSP00000401178:A263G	ENSP00000297146:A263G	A	-	2	0	GPR85	112511225	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.832000	0.69337	2.765000	0.95021	0.650000	0.86243	GCA	.		0.478	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			C	112723989	G	C	112723989	3	2	35	1	0	0	0	0	1	0	0	0	6741	1319	46	5	328	5	GPR85	7	112723989	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	48914790	112723989	46414674	53	5434											
LMOD2	442721	hgsc.bcm.edu	37	7	123303794	123303794	+	Nonsense_Mutation	SNP	C	C	T	rs375457267		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr7:123303794C>T	ENST00000458573.2	+	3	1796	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	547						cytoskeleton (GO:0005856)											AGAAGCCCTGCGATAAAAACA	0.348																																					p.R547X		.											.	.	.	0			c.C1639T						.	C	stop/ARG	1,3679		0,1,1839	106	101	102		1639	4.4	1	7		102	0,8186		0,0,4093	no	stop-gained	LMOD2	NM_207163.1		0,1,5932	TT,TC,CC		0.0,0.0272,0.0084		547/548	123303794	1,11865	1840	4093	5933	SO:0001587	stop_gained	442721	exon3			GCCCTGCGATAAA	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1639C>T	7.37:g.123303794C>T	ENSP00000411932:p.Arg547*	36	0		90	4	NM_207163	A4D0W9|A4D0Y2|Q8WVJ8	Nonsense_Mutation	SNP	ENST00000458573.2	37	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780176	0.96929	2.72E-4	0.0	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	.	.	.	5.27	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.8072	0.69965	0.1496:0.8504:0.0:0.0	.	.	.	.	X	547;507;498	.	ENSP00000405123:R498X	R	+	1	2	LMOD2	123091030	1.000000	0.71417	0.995000	0.50966	0.715000	0.41141	4.133000	0.57983	1.143000	0.42306	0.655000	0.94253	CGA	.		0.348	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			T	123303794	C	T	123303794	4	4	35	1	0	0	0	0	0	1	0	0	8887	760	27	1	1649	1	LMOD2	7	123303794	Nonsense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	10579805	123303794	35834869	54	5435											
BRAF	673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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.V600E	Colon(40;35 892 2973 5743 27438)	.		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,NS,adenoma,0,19815	BRAF	0	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A						.						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	GATTTCACTGTAG	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.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu	90	0		102	17	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	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|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA	.		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453136	A	T	140453136	3	4	35	1	0	0	0	0	1	0	0	0	1500	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	17149342	140453136	18685527	55	5436											
MTUS1	57509	hgsc.bcm.edu	37	8	17513428	17513428	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr8:17513428G>T	ENST00000262102.6	-	9	3276	c.3052C>A	c.(3052-3054)Ctt>Att	p.L1018I	MTUS1_ENST00000400046.1_Missense_Mutation_p.L90I|MTUS1_ENST00000519263.1_Missense_Mutation_p.L964I|MTUS1_ENST00000381869.3_Missense_Mutation_p.L964I|MTUS1_ENST00000544260.1_Missense_Mutation_p.L163I|MTUS1_ENST00000381861.3_Missense_Mutation_p.L265I|MTUS1_ENST00000297488.6_Missense_Mutation_p.L184I|MTUS1_ENST00000518713.1_5'UTR	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1018					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)		GTGTCCCGAAGCTTTTCATAC	0.458																																					p.L1018I		.											.	.	.	0			c.C3052A						.						196	180	185					8																	17513428		1869	4116	5985	SO:0001583	missense	57509	exon9			CCCGAAGCTTTTC	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.3052C>A	8.37:g.17513428G>T	ENSP00000262102:p.Leu1018Ile	63	0		86	4	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136828	0.77662	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.37411	1.2;1.2;1.52;1.2;1.2;1.2;1.2	5.13	3.31	0.37934	.	0.133576	0.50627	D	0.000119	T	0.58221	0.2107	M	0.83012	2.62	0.80722	D	1	P;D;P;P	0.59767	0.936;0.986;0.633;0.633	P;D;P;P	0.64506	0.797;0.926;0.618;0.618	T	0.64521	-0.6388	10	0.72032	D	0.01	-8.9104	11.3084	0.49349	0.1483:0.0:0.8517:0.0	.	964;1018;265;184	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	I	964;163;90;184;265;1018;964	ENSP00000371293:L964I;ENSP00000445738:L163I;ENSP00000382921:L90I;ENSP00000297488:L184I;ENSP00000371285:L265I;ENSP00000262102:L1018I;ENSP00000430167:L964I	ENSP00000262102:L1018I	L	-	1	0	MTUS1	17557708	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	2.514000	0.45503	1.311000	0.45024	0.591000	0.81541	CTT	.		0.458	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		T	17513428	G	T	17513428	3	4	35	1	0	0	0	0	1	0	0	0	10003	971	34	3	788	3	MTUS1	8	17513428	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		17513428	128850594	56	5437											
PI15	51050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	75737721	75737721	+	Silent	SNP	C	C	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr8:75737721C>A	ENST00000260113.2	+	2	416	c.237C>A	c.(235-237)ggC>ggA	p.G79G	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Silent_p.G79G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	79	SCP.					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)			AAGTTCGGGGCAAAGTGTTCC	0.393																																					p.G79G		.											.	.	.	0			c.C237A						.						50	45	47					8																	75737721		2203	4300	6503	SO:0001819	synonymous_variant	51050	exon2			TCGGGGCAAAGTG	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.237C>A	8.37:g.75737721C>A		56	0		81	9	NM_015886	Q68CY1	Silent	SNP	ENST00000260113.2	37	CCDS6218.1																																																																																			.		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		A	75737721	C	A	75737721	2	1	35	1	0	0	0	0	0	0	0	1	11907	697	25	3		3	PI15	8	75737721	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	58224293	75737721	70626301	57	5438											
ATAD2	29028	broad.mit.edu	37	8	124340548	124340548	+	Silent	SNP	A	A	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr8:124340548A>G	ENST00000287394.5	-	25	3857	c.3750T>C	c.(3748-3750)aaT>aaC	p.N1250N	ATAD2_ENST00000521903.1_Silent_p.N568N	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1250					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)			CTTCAAGCTCATTCTCTATAT	0.363																																					p.N1250N													.	ATAD2	160	0			c.T3750C						.						103	99	100					8																	124340548		2203	4300	6503	SO:0001819	synonymous_variant	29028	exon25			AAGCTCATTCTCT	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.3750T>C	8.37:g.124340548A>G		47	0		50	3	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	CCDS6343.1																																																																																			.		0.363	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		G	124340548	A	G	124340548	2	3	35	1	0	0	0	0	0	0	0	1	1072	214	8	4		4	ATAD2	8	124340548	Silent	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	48602827	124340548	22023474	58	5439											
ZFAT	57623	hgsc.bcm.edu	37	8	135614580	135614580	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr8:135614580G>A	ENST00000377838.3	-	6	1556	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	ZFAT_ENST00000520727.1_Missense_Mutation_p.A449V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A399V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A449V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A449V|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Missense_Mutation_p.A449V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	461					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)	p.A449V(1)|p.A461V(1)		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)			GCGGCAGACGGCACAGACGTA	0.602																																					p.A461V		.											ZFAT_ENST00000377838,NS,carcinoma,0,2	ZFAT_ENST00000377838	0	2	Substitution - Missense(2)	lung(2)	c.C1382T						.						45	47	46					8																	135614580		2105	4225	6330	SO:0001583	missense	57623	exon6			CAGACGGCACAGA	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.1382C>T	8.37:g.135614580G>A	ENSP00000367069:p.Ala461Val	26	0		40	2	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711386	0.68730	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.9	5.9	0.94986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.354191	0.30584	N	0.009311	T	0.15435	0.0372	N	0.20881	0.62	0.32414	N	0.550279	D;P;P;P	0.53462	0.96;0.951;0.787;0.801	P;P;B;B	0.58660	0.761;0.843;0.298;0.346	T	0.02184	-1.1199	10	0.30854	T	0.27	-13.188	19.2604	0.93966	0.0:0.0:1.0:0.0	.	399;449;449;461	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	449;449;449;461;449;399;449	ENSP00000427879:A449V;ENSP00000427831:A449V;ENSP00000394501:A449V;ENSP00000367069:A461V;ENSP00000428483:A449V;ENSP00000429091:A399V	ENSP00000367069:A461V	A	-	2	0	ZFAT	135683762	0.945000	0.32115	0.477000	0.27303	0.802000	0.45316	4.314000	0.59166	2.793000	0.96121	0.563000	0.77884	GCC	.		0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135614580	G	A	135614580	3	1	35	1	0	0	0	0	1	0	0	0	17680	1203	42	3	2393	3	ZFAT	8	135614580	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	11274032	135614580	10749442	59	5440											
KIAA2026	158358	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	6007401	6007401	+	Silent	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr9:6007401G>A	ENST00000399933.3	-	1	386	c.387C>T	c.(385-387)ttC>ttT	p.F129F	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Silent_p.F129F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	129										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCTGCTGCGGGAAGGCGCGAC	0.711																																					p.F129F		.											.	.	.	0			c.C387T						.						15	18	17					9																	6007401		1889	4084	5973	SO:0001819	synonymous_variant	158358	exon1			CTGCGGGAAGGCG	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.387C>T	9.37:g.6007401G>A		26	0		37	9	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37																																																																																				.		0.711	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		A	6007401	G	A	6007401	2	1	35	1	0	0	0	0	0	0	0	1	8297	1165	41	3		3	KIAA2026	9	6007401	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		6007401	135206030	60	5441											
C9orf93	203238	hgsc.bcm.edu	37	9	15784546	15784546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr9:15784546G>T	ENST00000380701.3	+	21	3449	c.3121G>T	c.(3121-3123)Gaa>Taa	p.E1041*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E1041*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1041								p.E1041*(1)									TGCATGTGAAGAACTAAATAA	0.368																																					p.E1041X		.											C9orf93,rectum,carcinoma,0,1	C9orf93	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3121T						.						85	76	80					9																	15784546		2203	4300	6503	SO:0001587	stop_gained	203238	exon21			TGTGAAGAACTAA	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.3121G>T	9.37:g.15784546G>T	ENSP00000370077:p.Glu1041*	33	0		70	3	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.105303|12.105303	0.99636|0.99636	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575;ENST00000432954	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.050057|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74581	.|0.3735	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73760	.|-0.3881	.|4	0.42905|.	T|.	0.14|.	-6.7623|-6.7623	18.7422|18.7422	0.91777|0.91777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	1041;308;1041|280;94	.|.	ENSP00000297641:E1041X|.	E|K	+|+	1|3	0|2	C9orf93|C9orf93	15774546|15774546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.437000|7.437000	0.80417|0.80417	2.500000|2.500000	0.84329|0.84329	0.655000|0.655000	0.94253|0.94253	GAA|AAG	.		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		T	15784546	G	T	15784546	4	4	35	1	0	0	0	0	0	1	0	0	2513	943	33	3	3199	3	C9orf93	9	15784546	Nonsense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	9777145	15784546	125428885	61	5442											
UBAP2	55833	hgsc.bcm.edu	37	9	33989030	33989030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr9:33989030G>T	ENST00000379238.1	-	5	500	c.383C>A	c.(382-384)tCg>tAg	p.S128*	UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.S128*|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.S128*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.S128*					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)		TCCACGACTCGATTCTTTCTC	0.398																																					p.S128X		.											UBAP2,NS,malignant_melanoma,0,1	UBAP2	0	0			c.C383A						.						257	233	241					9																	33989030		2203	4300	6503	SO:0001587	stop_gained	55833	exon5			CGACTCGATTCTT	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.383C>A	9.37:g.33989030G>T	ENSP00000368540:p.Ser128*	48	0		49	3	NM_018449		Nonsense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829045	0.71258	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	.	.	.	5.27	2.35	0.29111	.	0.969053	0.08595	N	0.922417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	2.3184	7.4582	0.27278	0.5915:0.0:0.4085:0.0	.	.	.	.	X	128;128;128;90;68;128;128;4	.	ENSP00000354039:S128X	S	-	2	0	UBAP2	33979030	0.019000	0.18553	0.013000	0.15412	0.034000	0.12701	1.877000	0.39598	0.177000	0.19895	0.650000	0.86243	TCG	.		0.398	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		T	33989030	G	T	33989030	4	4	35	1	0	0	0	0	0	1	0	0	16886	1059	37	2	3076	2	UBAP2	9	33989030	Nonsense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	18204484	33989030	107224401	62	5443											
FAM108B1	51104	broad.mit.edu	37	9	74489678	74489678	+	Missense_Mutation	SNP	T	T	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr9:74489678T>C	ENST00000333421.6	-	2	430	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	ABHD17B_ENST00000377041.2_Missense_Mutation_p.M107V	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	107						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AAGCTGCTCATTTGACCAAGA	0.388																																					p.M107V													.	FAM108B1	24	0			c.A319G						.						161	150	154					9																	74489678		2203	4300	6503	SO:0001583	missense	51104	exon2			TGCTCATTTGACC	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.319A>G	9.37:g.74489678T>C	ENSP00000330222:p.Met107Val	33	0		42	3	NM_016014	A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083384	0.76642	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.22336	1.96;1.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.67517	2.055	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.70016	0.967;0.944	T	0.40496	-0.9560	10	0.87932	D	0	-12.8476	16.8222	0.85835	0.0:0.0:0.0:1.0	.	107;107	Q5VST6;Q5VST6-2	F108B_HUMAN;.	V	107	ENSP00000366240:M107V;ENSP00000330222:M107V	ENSP00000330222:M107V	M	-	1	0	FAM108B1	73679498	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	ATG	.		0.388	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		C	74489678	T	C	74489678	3	2	35	1	0	0	0	0	1	0	0	0	5411	1493	52	4	590	4	FAM108B1	9	74489678	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	40500648	74489678	66723753	63	5444											
RABGAP1	23637	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	125752410	125752411	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	GC	GC	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr9:125752410_125752411GC>CT	ENST00000373647.4	+	6	975_976	c.841_842GC>CT	c.(841-843)GCa>CTa	p.A281L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	281	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGCCACTGCTGCACCCCAGACT	0.436																																					p.A281L		.											.	.	.	0			c.C842T						.																																			SO:0001583	missense	23637	exon6			CTGCTGCACCCCA	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	Exception_encountered	9.37:g.125752410_125752411delinsCT	ENSP00000362751:p.Ala281Leu	61	0		67	5	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	DNP	ENST00000373647.4	37	CCDS6848.2																																																																																			.		0.436	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		CT	125752411	GC	CT	125752410	3	2	35	1	0	0	0	0	1	0	0	0	13009	1319	46	5	859	5	RABGAP1	9	125752410	Missense_Mutation	DNP	GC	TCGA-ZU-A8S4-01A-11D-A417-09	51262732	125752410	15461021	64	5445											
GARNL3	84253	hgsc.bcm.edu	37	9	130152985	130152985	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr9:130152985C>T	ENST00000373387.4	+	27	3161	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.R915W	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	937					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						ACCCCGGAAGCGGTTAGAAGA	0.572																																					p.R937W		.											GARNL3,NS,carcinoma,0,1	GARNL3	0	0			c.C2809T						.						88	101	97					9																	130152985		2203	4300	6503	SO:0001583	missense	84253	exon27			CGGAAGCGGTTAG	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.2809C>T	9.37:g.130152985C>T	ENSP00000362485:p.Arg937Trp	35	0		40	2	NM_032293	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458407	0.63401	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87729	-2.28;-2.29	5.97	5.97	0.96955	.	0.457912	0.24750	N	0.035912	T	0.76863	0.4047	N	0.19112	0.55	0.80722	D	1	P;P	0.44260	0.83;0.83	B;B	0.33521	0.092;0.165	T	0.76977	-0.2759	9	.	.	.	.	17.158	0.86796	0.0:1.0:0.0:0.0	.	937;915	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	W	915;937	ENSP00000396205:R915W;ENSP00000362485:R937W	.	R	+	1	2	GARNL3	129192806	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	4.167000	0.58209	2.836000	0.97738	0.655000	0.94253	CGG	.		0.572	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		T	130152985	C	T	130152985	3	4	35	1	0	0	0	0	1	0	0	0	6266	759	27	1	2915	1	GARNL3	9	130152985	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	4400575	130152985	11060446	65	5446											
RHOBTB1	9886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	62648582	62648582	+	Missense_Mutation	SNP	G	G	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr10:62648582G>C	ENST00000337910.5	-	6	1181	c.844C>G	c.(844-846)Cga>Gga	p.R282G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R282G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	282	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)					AGGTAAATTCGATGTGCAAAG	0.433																																					p.R282G		.											.	.	.	0			c.C844G						.						101	103	102					10																	62648582		2203	4300	6503	SO:0001583	missense	9886	exon6			AAATTCGATGTGC	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.844C>G	10.37:g.62648582G>C	ENSP00000338671:p.Arg282Gly	32	0		58	6	NM_014836		Missense_Mutation	SNP	ENST00000337910.5	37	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637268	0.67130	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.30714	1.52;1.52	5.77	4.8	0.61643	BTB/POZ-like (2);BTB/POZ fold (2);	0.090716	0.45606	D	0.000357	T	0.38026	0.1025	M	0.69523	2.12	0.58432	D	0.99999	P	0.44309	0.832	P	0.44772	0.46	T	0.32375	-0.9909	10	0.87932	D	0	.	11.4211	0.49982	0.0:0.0:0.6084:0.3916	.	282	O94844	RHBT1_HUMAN	G	282	ENSP00000350595:R282G;ENSP00000338671:R282G	ENSP00000338671:R282G	R	-	1	2	RHOBTB1	62318588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.535000	0.73838	2.718000	0.92993	0.460000	0.39030	CGA	.		0.433	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			C	62648582	G	C	62648582	3	2	35	1	0	0	0	0	1	0	0	0	13378	1066	37	5	1270	5	RHOBTB1	10	62648582	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		62648582	72886165	66	5447											
GRID1	2894	hgsc.bcm.edu	37	10	87407113	87407113	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr10:87407113C>T	ENST00000327946.7	-	13	2124	c.2039G>A	c.(2038-2040)gGc>gAc	p.G680D	RP11-93H12.4_ENST00000474115.2_RNA|RN7SKP238_ENST00000516483.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.G251D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	680					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.G680D(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						CCGGACAGTGCCATAAGACAT	0.532										Multiple Myeloma(13;0.14)																											p.G680D		.											GRID1,colon,carcinoma,0,1	GRID1	0	1	Substitution - Missense(1)	large_intestine(1)	c.G2039A						.						258	239	245					10																	87407113		2203	4300	6503	SO:0001583	missense	2894	exon13			ACAGTGCCATAAG	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.2039G>A	10.37:g.87407113C>T	ENSP00000330148:p.Gly680Asp	46	0		42	3	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.032911	0.93575	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.37235	1.21;1.21	5.92	5.92	0.95590	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82026	-0.0661	10	0.87932	D	0	.	19.3095	0.94179	0.0:1.0:0.0:0.0	.	680	Q9ULK0	GRID1_HUMAN	D	680;251	ENSP00000330148:G680D;ENSP00000444455:G251D	ENSP00000330148:G680D	G	-	2	0	GRID1	87397093	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	7.487000	0.81328	2.810000	0.96702	0.650000	0.86243	GGC	.		0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		T	87407113	C	T	87407113	3	4	35	1	0	0	0	0	1	0	0	0	6798	739	26	3	1006	3	GRID1	10	87407113	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	24758531	87407113	48127634	67	5448											
MUC2	4583	broad.mit.edu	37	11	1093232	1093232	+	Missense_Mutation	SNP	T	T	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:1093232T>G	ENST00000441003.2	+	30	5078	c.5051T>G	c.(5050-5052)gTg>gGg	p.V1684G	MUC2_ENST00000359061.5_Missense_Mutation_p.V1651G|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)	accactacGGTGaccccaacc	0.627																																					p.V1684G													.	MUC2	614	0			c.T5051G						.						88	151	129					11																	1093232		1823	3303	5126	SO:0001583	missense	4583	exon30			CTACGGTGACCCC	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.5051T>G	11.37:g.1093232T>G	ENSP00000415183:p.Val1684Gly	164	2		237	5	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	2.900	-0.227662	0.06022	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.08634	3.16;3.07	1.43	-0.485	0.12067	.	0.626184	0.11283	N	0.580104	T	0.04048	0.0113	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.44697	-0.9311	9	0.23302	T	0.38	.	3.4815	0.07603	0.0:0.447:0.0:0.553	.	1684	E7EUV1	.	G	1684;1651	ENSP00000415183:V1684G;ENSP00000351956:V1651G	ENSP00000351956:V1651G	V	+	2	0	MUC2	1083232	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-3.726000	0.00382	-0.038000	0.13624	0.155000	0.16302	GTG	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093232	T	G	1093232	3	3	35	1	0	0	0	0	1	0	0	0	10013	1696	59	4	5169	4	MUC2	11	1093232	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09		1093232	133913284	68	5449											
MUC5B	727897	hgsc.bcm.edu	37	11	1258389	1258389	+	Missense_Mutation	SNP	T	T	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:1258389T>G	ENST00000529681.1	+	25	3350	c.3292T>G	c.(3292-3294)Tcc>Gcc	p.S1098A	MUC5B_ENST00000447027.1_Missense_Mutation_p.S1101A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1098	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)		CGCCTGCCGCTCCCAGGTGGG	0.682																																					p.S1098A		.											MUC5B,NS,carcinoma,0,2	MUC5B	0	0			c.T3292G						.						10	15	13					11																	1258389		1897	4084	5981	SO:0001583	missense	727897	exon25			TGCCGCTCCCAGG	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.3292T>G	11.37:g.1258389T>G	ENSP00000436812:p.Ser1098Ala	16	1		32	4	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	5.715	0.316511	0.10845	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76839	-1.05;-1.05	4.38	-4.2	0.03823	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.59473	0.2196	N	0.10645	0.015	0.27479	N	0.952642	B;P;P	0.48089	0.026;0.905;0.905	B;P;P	0.47376	0.027;0.545;0.545	T	0.57613	-0.7781	9	0.87932	D	0	.	6.1245	0.20172	0.0:0.2029:0.3546:0.4425	.	1098;1791;1101	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	A	1098;1101;1099;1168	ENSP00000436812:S1098A;ENSP00000415793:S1101A	ENSP00000343037:S1099A	S	+	1	0	MUC5B	1214965	0.000000	0.05858	0.074000	0.20217	0.008000	0.06430	-0.169000	0.09911	-0.576000	0.05974	-0.648000	0.03929	TCC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1258389	T	G	1258389	3	3	35	1	0	0	0	0	1	0	0	0	10017	1551	54	4	3399	4	MUC5B	11	1258389	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	165157	1258389	133748127	69	5450											
DDB2	1643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47236765	47236765	+	Missense_Mutation	SNP	T	T	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:47236765T>G	ENST00000256996.4	+	1	273	c.78T>G	c.(76-78)agT>agG	p.S26R	DDB2_ENST00000378601.3_Missense_Mutation_p.S26R|DDB2_ENST00000378603.3_Missense_Mutation_p.S26R|DDB2_ENST00000378600.3_Missense_Mutation_p.S26R	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	26					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						GGAGCAGGAGTCCCCTGGAGC	0.592			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.S26R		.	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	.	.	0			c.T78G						.						129	141	137					11																	47236765		2201	4298	6499	SO:0001583	missense	1643	exon1	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CAGGAGTCCCCTG		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.78T>G	11.37:g.47236765T>G	ENSP00000256996:p.Ser26Arg	34	0		64	8	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581297	0.46006	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600;ENST00000378601	T;T;T;T	0.77098	-0.44;-0.59;-1.07;0.94	4.19	1.73	0.24493	.	0.593042	0.18931	N	0.127216	T	0.66336	0.2779	L	0.36672	1.1	0.24575	N	0.993909	P;P;P	0.47677	0.899;0.899;0.838	B;P;B	0.45099	0.295;0.469;0.11	T	0.57106	-0.7868	10	0.40728	T	0.16	-7.2904	4.5908	0.12306	0.0:0.3866:0.0:0.6134	.	26;26;26	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	R	26	ENSP00000256996:S26R;ENSP00000367866:S26R;ENSP00000367863:S26R;ENSP00000367864:S26R	ENSP00000256996:S26R	S	+	3	2	DDB2	47193341	0.898000	0.30612	0.788000	0.31933	0.995000	0.86356	0.113000	0.15499	0.407000	0.25591	0.533000	0.62120	AGT	.		0.592	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		G	47236765	T	G	47236765	3	3	35	1	0	0	0	0	1	0	0	0	4333	1664	58	4	80	4	DDB2	11	47236765	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	45978376	47236765	87769751	70	5451											
OR5I1	10798	hgsc.bcm.edu	37	11	55703506	55703506	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:55703506C>T	ENST00000301532.3	-	1	370	c.371G>A	c.(370-372)cGc>cAc	p.R124H		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.R124H		.											OR5I1,colon,carcinoma,0,2	OR5I1	0	0			c.G371A						.						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>A	11.37:g.55703506C>T	ENSP00000301532:p.Arg124His	37	0		38	3	NM_006637	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451578	0.26074	.	.	ENSG00000167825	ENST00000301532	T	0.77489	-1.1	4.94	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.139243	0.33534	N	0.004815	T	0.77598	0.4154	M	0.85373	2.75	0.32795	N	0.500701	B	0.14438	0.01	B	0.08055	0.003	T	0.78295	-0.2259	10	0.66056	D	0.02	.	9.6572	0.39932	0.0:0.8266:0.0:0.1734	.	124	Q13606	OR5I1_HUMAN	H	124	ENSP00000301532:R124H	ENSP00000301532:R124H	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	.		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		T	55703506	C	T	55703506	3	4	35	1	0	0	0	0	1	0	0	0	11203	768	27	1	576	1	OR5I1	11	55703506	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	8466741	55703506	79303010	71	5452											
OR10AG1	282770	hgsc.bcm.edu	37	11	55735485	55735485	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:55735485C>T	ENST00000312345.2	-	1	505	c.455G>A	c.(454-456)tGc>tAc	p.C152Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C152F(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)					GAAAATTTGGCATGTTTCCCC	0.403																																					p.C152Y		.											OR10AG1,NS,carcinoma,0,1	OR10AG1	0	1	Substitution - Missense(1)	lung(1)	c.G455A						.						84	81	82					11																	55735485		2201	4296	6497	SO:0001583	missense	282770	exon1			ATTTGGCATGTTT	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.455G>A	11.37:g.55735485C>T	ENSP00000311477:p.Cys152Tyr	52	0		74	3	NM_001005491	B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.564530	0.00903	.	.	ENSG00000174970	ENST00000312345	T	0.35973	1.28	5.47	0.21	0.15231	GPCR, rhodopsin-like superfamily (1);	1.243340	0.05325	N	0.527337	T	0.20659	0.0497	L	0.31476	0.935	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.18085	-1.0348	10	0.02654	T	1	.	3.4742	0.07578	0.1904:0.2584:0.0:0.5511	.	152	Q8NH19	O10AG_HUMAN	Y	152	ENSP00000311477:C152Y	ENSP00000311477:C152Y	C	-	2	0	OR10AG1	55492061	0.000000	0.05858	0.079000	0.20413	0.736000	0.42039	-3.939000	0.00330	0.162000	0.19483	0.477000	0.44152	TGC	.		0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		T	55735485	C	T	55735485	3	4	35	1	0	0	0	0	1	0	0	0	10936	710	25	3	453	3	OR10AG1	11	55735485	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	31979	55735485	79271031	72	5453											
SLC43A3	29015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	57184113	57184113	+	Silent	SNP	T	T	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:57184113T>C	ENST00000395123.2	-	9	1006	c.702A>G	c.(700-702)gaA>gaG	p.E234E	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Silent_p.E247E|SLC43A3_ENST00000529554.1_Silent_p.E234E|SLC43A3_ENST00000395124.1_Silent_p.E234E|SLC43A3_ENST00000352187.1_Silent_p.E234E	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	234					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TTTCCTTCTCTTCCTTTGTGG	0.542																																					p.E234E		.											.	.	.	0			c.A702G						.						196	160	172					11																	57184113		2201	4296	6497	SO:0001819	synonymous_variant	29015	exon9			CTTCTCTTCCTTT	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.702A>G	11.37:g.57184113T>C		12	0		29	6	NM_017611	B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	CCDS7956.1																																																																																			.		0.542	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		C	57184113	T	C	57184113	2	2	35	1	0	0	0	0	0	0	0	1	14679	1606	56	4		4	SLC43A3	11	57184113	Silent	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	1448628	57184113	77822403	73	5454											
RTN4RL2	349667	hgsc.bcm.edu	37	11	57243730	57243730	+	Silent	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:57243730C>T	ENST00000335099.3	+	3	926	c.609C>T	c.(607-609)ggC>ggT	p.G203G	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCGGCCTGGGCAGCCTGGACC	0.682																																					p.G203G		.											.	.	.	0			c.C609T						.						32	34	33					11																	57243730		2166	4222	6388	SO:0001819	synonymous_variant	349667	exon3			CCTGGGCAGCCTG	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.609C>T	11.37:g.57243730C>T		20	0		40	4	NM_178570		Silent	SNP	ENST00000335099.3	37	CCDS7957.1																																																																																			.		0.682	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1	NM_178570		T	57243730	C	T	57243730	2	4	35	1	0	0	0	0	0	0	0	1	13777	697	25	3		3	RTN4RL2	11	57243730	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	59617	57243730	77762786	74	5455											
SLC22A10	387775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	63057875	63057875	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:63057875G>T	ENST00000332793.6	+	1	240	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.D28Y|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	80						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TATCCCACTAGACTCAAATCT	0.493																																					p.D80Y		.											.	.	.	0			c.G238T						.						111	115	114					11																	63057875		2201	4298	6499	SO:0001583	missense	387775	exon1			CCACTAGACTCAA	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.238G>T	11.37:g.63057875G>T	ENSP00000327569:p.Asp80Tyr	48	0		78	8	NM_001039752	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728369	0.30593	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.70164	1.09;-0.46	2.89	2.89	0.33648	.	0.069273	0.56097	U	0.000032	D	0.85124	0.5625	H	0.96269	3.795	0.80722	D	1	P;D	0.89917	0.845;1.0	P;D	0.85130	0.619;0.997	D	0.87462	0.2408	10	0.87932	D	0	.	9.5401	0.39246	0.0:0.0:1.0:0.0	.	28;80	E9PJB1;Q63ZE4	.;S22AA_HUMAN	Y	80;28	ENSP00000327569:D80Y;ENSP00000433908:D28Y	ENSP00000327569:D80Y	D	+	1	0	SLC22A10	62814451	1.000000	0.71417	0.095000	0.20976	0.175000	0.22909	3.037000	0.49775	1.662000	0.50781	0.579000	0.79373	GAC	.		0.493	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		T	63057875	G	T	63057875	3	4	35	1	0	0	0	0	1	0	0	0	14486	942	33	3	240	3	SLC22A10	11	63057875	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	5814145	63057875	71948641	75	5456											
ATM	472	broad.mit.edu	37	11	108115752	108115752	+	Splice_Site	SNP	A	A	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:108115752A>G	ENST00000452508.2	+	8	1089	c.900A>G	c.(898-900)aaA>aaG	p.K300K	ATM_ENST00000278616.4_Splice_Site_p.K300K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	300					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)	CCCAAGAAAAAGGTATAAAGG	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)																											p.K300K			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM	1657	0			c.A900G						.						26	28	28					11																	108115752		2191	4292	6483	SO:0001630	splice_region_variant	472	exon7	Familial Cancer Database	AT, Louis-Bar syndrome	AGAAAAAGGTATA	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.901+1A>G	11.37:g.108115752A>G		77	0		139	4	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																			.		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Silent	G	108115752	A	G	108115752	5	3	35	1	0	0	0	0	0	0	1	0	1110	86	3	4	922	4	ATM	11	108115752	Splice_Site	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	45057877	108115752	26890764	76	5457											
ANKK1	255239	broad.mit.edu	37	11	113270133	113270133	+	Missense_Mutation	SNP	T	T	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr11:113270133T>A	ENST00000303941.3	+	8	1536	c.1442T>A	c.(1441-1443)gTc>gAc	p.V481D		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	481							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)		CGGCTTCTGGTCTCCCGTCAG	0.607																																					p.V481D													.	ANKK1	83	0			c.T1442A						.						15	18	17					11																	113270133		2052	4193	6245	SO:0001583	missense	255239	exon8			TTCTGGTCTCCCG	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.1442T>A	11.37:g.113270133T>A	ENSP00000306678:p.Val481Asp	21	0		22	3	NM_178510		Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387334	0.61956	.	.	ENSG00000170209	ENST00000303941	T	0.19394	2.15	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.245464	0.27802	N	0.017791	T	0.44477	0.1295	M	0.73372	2.23	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.45512	-0.9256	10	0.87932	D	0	-39.4532	13.3058	0.60351	0.0:0.0:0.0:1.0	.	481	Q8NFD2	ANKK1_HUMAN	D	481	ENSP00000306678:V481D	ENSP00000306678:V481D	V	+	2	0	ANKK1	112775343	0.999000	0.42202	1.000000	0.80357	0.571000	0.35966	3.257000	0.51500	1.941000	0.56285	0.377000	0.23210	GTC	.		0.607	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		A	113270133	T	A	113270133	3	1	35	1	0	0	0	0	1	0	0	0	631	1667	58	5	1472	5	ANKK1	11	113270133	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	5154381	113270133	21736383	77	5458											
NTF3	4908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	5604050	5604050	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr12:5604050G>T	ENST00000331010.6	+	1	753	c.670G>T	c.(670-672)Gtc>Ttc	p.V224F	NTF3_ENST00000423158.3_Missense_Mutation_p.V237F|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	224					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						CCAAACCTACGTCCGAGCACT	0.488																																					p.V237F	GBM(194;1104 2182 8339 9578 18493)	.											.	.	.	0			c.G709T						.						66	55	59					12																	5604050		2203	4300	6503	SO:0001583	missense	4908	exon2			ACCTACGTCCGAG		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.670G>T	12.37:g.5604050G>T	ENSP00000328738:p.Val224Phe	47	0		63	7	NM_001102654	B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400895	0.62177	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.74526	-0.85;-0.85	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88974	0.3403	10	0.72032	D	0.01	-33.0194	18.2818	0.90101	0.0:0.0:1.0:0.0	.	224;237	P20783;B7Z1T5	NTF3_HUMAN;.	F	237;224	ENSP00000397297:V237F;ENSP00000328738:V224F	ENSP00000328738:V224F	V	+	1	0	NTF3	5474311	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.583000	0.87209	0.650000	0.86243	GTC	.		0.488	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			T	5604050	G	T	5604050	3	4	35	1	0	0	0	0	1	0	0	0	10735	1145	40	2	715	2	NTF3	12	5604050	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		5604050	128247845	78	5459											
SCN8A	6334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	52200419	52200419	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr12:52200419C>T	ENST00000354534.6	+	27	5327	c.5149C>T	c.(5149-5151)Cgc>Tgc	p.R1717C	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1676C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1717					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)	CATCCTAAACCGCCCCCCTGA	0.507																																					p.R1717C		.											.	.	.	0			c.C5149T						.						61	66	65					12																	52200419		2201	4298	6499	SO:0001583	missense	6334	exon27			CTAAACCGCCCCC	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.5149C>T	12.37:g.52200419C>T	ENSP00000346534:p.Arg1717Cys	49	0		48	8	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696039	0.48202	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96168	-3.93;-3.9	5.32	5.32	0.75619	Ion transport (1);	0.100333	0.64402	D	0.000001	D	0.94295	0.8167	L	0.39898	1.24	0.58432	D	0.999999	D	0.59357	0.985	P	0.49140	0.601	D	0.94574	0.7773	10	0.87932	D	0	.	15.905	0.79419	0.0:0.8649:0.1351:0.0	.	1717	Q9UQD0	SCN8A_HUMAN	C	1717;1676	ENSP00000346534:R1717C;ENSP00000440360:R1676C	ENSP00000346534:R1717C	R	+	1	0	SCN8A	50486686	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.328000	0.33758	2.941000	0.99782	0.655000	0.94253	CGC	.		0.507	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		T	52200419	C	T	52200419	3	4	35	1	0	0	0	0	1	0	0	0	13969	652	23	1	5251	1	SCN8A	12	52200419	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	46596369	52200419	81651476	79	5460											
DGKA	1606	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	56335859	56335859	+	Missense_Mutation	SNP	A	A	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr12:56335859A>C	ENST00000331886.5	+	16	1782	c.1328A>C	c.(1327-1329)gAg>gCg	p.E443A	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.E443A|DGKA_ENST00000551156.1_Missense_Mutation_p.E443A	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	443	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)	TGGATTCTAGAGACCATTGGT	0.537																																					p.E443A		.											.	.	.	0			c.A1328C						.						217	193	201					12																	56335859		2203	4300	6503	SO:0001583	missense	1606	exon16			TTCTAGAGACCAT	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.1328A>C	12.37:g.56335859A>C	ENSP00000328405:p.Glu443Ala	47	0		58	5	NM_201554	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201790	0.58234	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.32	5.32	0.75619	Diacylglycerol kinase, catalytic domain (3);	0.098697	0.64402	D	0.000002	T	0.29652	0.0740	N	0.16790	0.44	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.18871	0.004;0.023	T	0.05869	-1.0859	10	0.36615	T	0.2	.	14.7093	0.69215	1.0:0.0:0.0:0.0	.	362;443	G3V4E1;P23743	.;DGKA_HUMAN	A	443;362;443;443;53	ENSP00000328405:E443A;ENSP00000451743:E362A;ENSP00000377703:E443A;ENSP00000450359:E443A;ENSP00000451518:E53A	ENSP00000328405:E443A	E	+	2	0	DGKA	54622126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.691000	0.91279	2.371000	0.80710	0.533000	0.62120	GAG	.		0.537	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			C	56335859	A	C	56335859	3	2	35	1	0	0	0	0	1	0	0	0	4479	304	11	4	1386	4	DGKA	12	56335859	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	4135440	56335859	77516036	80	5461											
CAND1	55832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	67700164	67700164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr12:67700164C>T	ENST00000545606.1	+	10	3153	c.2716C>T	c.(2716-2718)Cag>Tag	p.Q906*		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	906					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCCAAAAGGCAGTATCTTTT	0.413																																					p.Q906X		.											.	.	.	0			c.C2716T						.						81	77	78					12																	67700164		2203	4300	6503	SO:0001587	stop_gained	55832	exon10			AAAAGGCAGTATC		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2716C>T	12.37:g.67700164C>T	ENSP00000442318:p.Gln906*	61	0		78	13	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Nonsense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	41	8.759348	0.98943	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9177	19.7049	0.96069	0.0:1.0:0.0:0.0	.	.	.	.	X	906;906;446	.	.	Q	+	1	0	CAND1	65986431	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.757000	0.85209	2.655000	0.90218	0.591000	0.81541	CAG	.		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		T	67700164	C	T	67700164	4	4	35	1	0	0	0	0	0	1	0	0	2622	711	25	3	2754	3	CAND1	12	67700164	Nonsense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	11364305	67700164	66151731	81	5462											
TMEM116	89894	hgsc.bcm.edu;broad.mit.edu	37	12	112369579	112369579	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr12:112369579G>A	ENST00000550831.3	-	10	952	c.584C>T	c.(583-585)aCg>aTg	p.T195M	TMEM116_ENST00000354825.3_Missense_Mutation_p.T195M|TMEM116_ENST00000549537.2_Missense_Mutation_p.T101M|TMEM116_ENST00000437003.2_Missense_Mutation_p.T195M|TMEM116_ENST00000355445.3_Missense_Mutation_p.T252M|TMEM116_ENST00000552374.2_Missense_Mutation_p.T287M	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	195						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TTTGTGCTGCGTCCAGCCATA	0.507																																					p.T287M		.											TMEM116,colon,carcinoma,0,1	TMEM116	0	0			c.C860T						.						118	106	110					12																	112369579		2203	4300	6503	SO:0001583	missense	89894	exon11			TGCTGCGTCCAGC	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.584C>T	12.37:g.112369579G>A	ENSP00000450377:p.Thr195Met	49	0		57	3	NM_001193531	G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.524555	0.85600	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.65	5.65	0.86999	.	0.067905	0.56097	D	0.000023	T	0.60996	0.2312	M	0.66939	2.045	0.52501	D	0.999957	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	0.62464	-0.6849	10	0.87932	D	0	-16.4501	18.5035	0.90890	0.0:0.0:1.0:0.0	.	101;252;287;195	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	M	252;195;195;195;101;287	ENSP00000347620:T252M;ENSP00000346883:T195M;ENSP00000450377:T195M;ENSP00000395861:T195M;ENSP00000449163:T101M;ENSP00000447731:T287M	ENSP00000346883:T195M	T	-	2	0	TMEM116	110853962	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.849000	0.69465	2.680000	0.91292	0.467000	0.42956	ACG	.		0.507	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		A	112369579	G	A	112369579	3	1	35	1	0	0	0	0	1	0	0	0	16077	1145	40	1	157	1	TMEM116	12	112369579	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	44669415	112369579	21482316	82	5463											
CIT	11113	hgsc.bcm.edu;ucsc.edu	37	12	120139737	120139737	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr12:120139737G>T	ENST00000261833.7	-	41	5257	c.5205C>A	c.(5203-5205)agC>agA	p.S1735R	CIT_ENST00000392521.2_Missense_Mutation_p.S1777R|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1735	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)		AGTGGATACAGCTGCAGGGCT	0.498																																					p.S1777R		.											.	.	.	0			c.C5331A						.						147	140	142					12																	120139737		2203	4300	6503	SO:0001583	missense	11113	exon42			GATACAGCTGCAG	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.5205C>A	12.37:g.120139737G>T	ENSP00000261833:p.Ser1735Arg	33	0		41	4	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.624654|4.624654	0.87560|0.87560	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05199	.|3.48;3.48	5.68|5.68	4.78|4.78	0.61160|0.61160	.|Citron-like (3);	.|0.047784	.|0.85682	.|D	.|0.000000	T|T	0.19087|0.19087	0.0458|0.0458	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;0.997;0.999	.|D;D;D	.|0.91635	.|0.999;0.995;0.977	T|T	0.00033|0.00033	-1.2271|-1.2271	5|10	.|0.87932	.|D	.|0	.|.	10.294|10.294	0.43613|0.43613	0.1462:0.0:0.8538:0.0|0.1462:0.0:0.8538:0.0	.|.	.|1777;1735;1253	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	D|R	1348|1777;1735	.|ENSP00000376306:S1777R;ENSP00000261833:S1735R	.|ENSP00000261833:S1735R	A|S	-|-	2|3	0|2	CIT|CIT	118624120|118624120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.827000|5.827000	0.69300|0.69300	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	GCT|AGC	.		0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120139737	G	T	120139737	3	4	35	1	0	0	0	0	1	0	0	0	3445	962	34	3	906	3	CIT	12	120139737	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	7770158	120139737	13712158	83	5464											
BRCA2	675	hgsc.bcm.edu	37	13	32913479	32913479	+	Missense_Mutation	SNP	G	G	A	rs397507753|rs587781763		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr13:32913479G>A	ENST00000380152.3	+	11	5220	c.4987G>A	c.(4987-4989)Gtc>Atc	p.V1663I	BRCA2_ENST00000544455.1_Missense_Mutation_p.V1663I			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1663	Interaction with POLH.				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)		CCCTTATTCAGTCATTGAAAA	0.323			"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.V1663I	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	.	.	.	0			c.G4987A	GRCh37	CD014646	BRCA2	D		.						33	35	34					13																	32913479		2197	4285	6482	SO:0001583	missense	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)	TATTCAGTCATTG	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.4987G>A	13.37:g.32913479G>A	ENSP00000369497:p.Val1663Ile	50	0		78	4	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884871	0.17540	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00737	5.76;5.76	5.96	2.04	0.26737	.	1.179790	0.05954	N	0.639459	T	0.00936	0.0031	L	0.38175	1.15	0.09310	N	1	B	0.21821	0.061	B	0.12837	0.008	T	0.48790	-0.9004	10	0.34782	T	0.22	.	7.381	0.26856	0.3318:0.1258:0.5423:0.0	.	1663	P51587	BRCA2_HUMAN	I	1663	ENSP00000369497:V1663I;ENSP00000439902:V1663I	ENSP00000369497:V1663I	V	+	1	0	BRCA2	31811479	0.000000	0.05858	0.002000	0.10522	0.338000	0.28826	0.265000	0.18515	0.412000	0.25729	0.655000	0.94253	GTC	.		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32913479	G	A	32913479	3	1	35	1	0	0	0	0	1	0	0	0	1503	1029	36	3	5025	3	BRCA2	13	32913479	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		32913479	82256399	84	5465											
TRPC4	7223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	38357312	38357312	+	Missense_Mutation	SNP	C	C	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr13:38357312C>G	ENST00000379705.3	-	2	1016	c.159G>C	c.(157-159)gaG>gaC	p.E53D	TRPC4_ENST00000379673.2_Missense_Mutation_p.E53D|TRPC4_ENST00000447043.1_Missense_Mutation_p.E53D|TRPC4_ENST00000379681.3_Missense_Mutation_p.E53D|TRPC4_ENST00000338947.5_Missense_Mutation_p.E53D|TRPC4_ENST00000358477.2_Missense_Mutation_p.E53D|TRPC4_ENST00000426868.2_Missense_Mutation_p.E53D|TRPC4_ENST00000355779.2_Missense_Mutation_p.E53D|TRPC4_ENST00000379679.1_Missense_Mutation_p.E53D			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	53					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)		tttcAGCTTCCTCTAGGGATT	0.388																																					p.E53D		.											.	.	.	0			c.G159C						.						140	144	143					13																	38357312		2203	4300	6503	SO:0001583	missense	7223	exon2			AGCTTCCTCTAGG	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.159G>C	13.37:g.38357312C>G	ENSP00000369027:p.Glu53Asp	55	0		52	7	NM_001135958	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328444	0.60743	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	6.01	4.3	0.51218	Ankyrin repeat-containing domain (3);	0.044070	0.85682	D	0.000000	T	0.65176	0.2666	L	0.31845	0.965	0.42954	D	0.994387	P;P;P;P;P;P	0.52692	0.855;0.837;0.514;0.663;0.855;0.955	P;P;B;B;P;P	0.60886	0.64;0.457;0.199;0.199;0.64;0.88	T	0.66988	-0.5784	10	0.87932	D	0	-27.3296	9.8154	0.40849	0.0:0.7343:0.0:0.2657	.	53;53;53;53;53;53	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	D	53	ENSP00000369027:E53D;ENSP00000369003:E53D;ENSP00000342580:E53D;ENSP00000369001:E53D;ENSP00000410133:E53D;ENSP00000348025:E53D;ENSP00000351264:E53D;ENSP00000368995:E53D;ENSP00000414316:E53D	ENSP00000342580:E53D	E	-	3	2	TRPC4	37255312	0.978000	0.34361	1.000000	0.80357	0.995000	0.86356	0.271000	0.18626	0.896000	0.36366	-0.145000	0.13849	GAG	.		0.388	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		G	38357312	C	G	38357312	3	3	35	1	0	0	0	0	1	0	0	0	16628	680	24	5	2829	5	TRPC4	13	38357312	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	5443833	38357312	76812566	85	5466											
FREM2	341640	ucsc.edu;bcgsc.ca	37	13	39433640	39433640	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr13:39433640G>T	ENST00000280481.7	+	14	7648	c.7432G>T	c.(7432-7434)Gta>Tta	p.V2478L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2478					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)		TGGCTCCCGGGTACAGTGCGC	0.527																																					p.V2478L													FREM2,caecum,carcinoma,-1,1	FREM2	385	0			c.G7432T						.						99	91	94					13																	39433640		2203	4300	6503	SO:0001583	missense	341640	exon14			TCCCGGGTACAGT	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.7432G>T	13.37:g.39433640G>T	ENSP00000280481:p.Val2478Leu	28	0		25	4	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216372	0.79352	.	.	ENSG00000150893	ENST00000280481	T	0.29142	1.58	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	M	0.86178	2.8	0.80722	D	1	D;P	0.58268	0.982;0.948	P;P	0.51193	0.662;0.46	T	0.59263	-0.7487	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	2478;2478	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	L	2478	ENSP00000280481:V2478L	ENSP00000280481:V2478L	V	+	1	0	FREM2	38331640	1.000000	0.71417	0.143000	0.22291	0.600000	0.36913	5.476000	0.66793	2.937000	0.99478	0.650000	0.86243	GTA	.		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39433640	G	T	39433640	3	4	35	1	0	0	0	0	1	0	0	0	6069	1261	44	3	7486	3	FREM2	13	39433640	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	1076328	39433640	75736238	86	5467											
SAV1	60485	broad.mit.edu	37	14	51107521	51107521	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr14:51107521A>C	ENST00000324679.4	-	4	1260	c.897T>G	c.(895-897)taT>taG	p.Y299*	RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	299					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTGCAGTATGATATGGATTTG	0.448																																					p.Y299X													.	SAV1	18	0			c.T897G						.						196	182	187					14																	51107521		2203	4300	6503	SO:0001587	stop_gained	60485	exon4			AGTATGATATGGA	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.897T>G	14.37:g.51107521A>C	ENSP00000324729:p.Tyr299*	73	0		80	3	NM_021818	A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Nonsense_Mutation	SNP	ENST00000324679.4	37	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	A	39	7.679269	0.98428	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862	.	.	.	5.79	-0.37	0.12530	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0994	10.9068	0.47084	0.3829:0.0:0.6171:0.0	.	.	.	.	X	231;299;266	.	ENSP00000324729:Y299X	Y	-	3	2	SAV1	50177271	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.409000	0.34680	0.038000	0.15604	0.533000	0.62120	TAT	.		0.448	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			C	51107521	A	C	51107521	4	2	35	1	0	0	0	0	0	1	0	0	13901	340	12	4	262	4	SAV1	14	51107521	Nonsense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09		51107521	56242019	87	5468											
TBPL2	387332	bcgsc.ca	37	14	55903453	55903453	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr14:55903453C>T	ENST00000247219.5	-	2	504	c.434G>A	c.(433-435)gGc>gAc	p.G145D		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GCTGTTTAAGCCCAGCCCAAC	0.498																																					p.G145D													.	TBPL2	27	0			c.G434A						.						231	192	205					14																	55903453		2203	4300	6503	SO:0001583	missense	387332	exon2			TTTAAGCCCAGCC	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.434G>A	14.37:g.55903453C>T	ENSP00000247219:p.Gly145Asp	94	0		67	4	NM_199047		Missense_Mutation	SNP	ENST00000247219.5	37	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	C	2.167	-0.390907	0.04932	.	.	ENSG00000182521	ENST00000247219	T	0.43688	0.94	4.92	-3.24	0.05094	.	1.654650	0.02849	N	0.128910	T	0.22742	0.0549	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05937	-1.0855	10	0.10902	T	0.67	2.1044	0.5814	0.00712	0.209:0.3172:0.1998:0.2741	.	145	Q6SJ96	TBPL2_HUMAN	D	145	ENSP00000247219:G145D	ENSP00000247219:G145D	G	-	2	0	TBPL2	54973206	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.029000	0.12329	-0.542000	0.06249	-0.181000	0.13052	GGC	.		0.498	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		T	55903453	C	T	55903453	3	4	35	1	0	0	0	0	1	0	0	0	15693	739	26	3	717	3	TBPL2	14	55903453	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	4795932	55903453	51446087	88	5469											
SLC8A3	6547	broad.mit.edu	37	14	70634323	70634323	+	Missense_Mutation	SNP	T	T	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr14:70634323T>G	ENST00000381269.2	-	2	1570	c.817A>C	c.(817-819)Att>Ctt	p.I273L	SLC8A3_ENST00000534137.1_Missense_Mutation_p.I273L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.I273L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I273L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.I273L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	273					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)		TCTATGATAATTCCTCGGTGT	0.478																																					p.I273L													.	SLC8A3	234	0			c.A817C						.						159	145	150					14																	70634323		2203	4300	6503	SO:0001583	missense	6547	exon2			TGATAATTCCTCG	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.817A>C	14.37:g.70634323T>G	ENSP00000370669:p.Ile273Leu	49	0		38	3	NM_183002	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284253	0.23392	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35421	1.39;1.31;1.45;1.39;1.45	5.71	4.55	0.56014	.	0.117295	0.64402	D	0.000016	T	0.35770	0.0943	M	0.65975	2.015	0.44241	D	0.99708	B;B;B;B	0.16603	0.006;0.018;0.002;0.004	B;B;B;B	0.21360	0.034;0.031;0.015;0.015	T	0.11060	-1.0603	10	0.24483	T	0.36	.	10.9713	0.47441	0.0:0.0758:0.0:0.9242	.	273;273;273;273	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	L	273	ENSP00000349392:I273L;ENSP00000370669:I273L;ENSP00000350560:I273L;ENSP00000436688:I273L;ENSP00000433531:I273L	ENSP00000349392:I273L	I	-	1	0	SLC8A3	69704076	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.833000	0.55790	0.968000	0.38212	0.459000	0.35465	ATT	.		0.478	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			G	70634323	T	G	70634323	3	3	35	1	0	0	0	0	1	0	0	0	14753	1493	52	4	2105	4	SLC8A3	14	70634323	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	14730870	70634323	36715217	89	5470											
ADAM21	8747	hgsc.bcm.edu	37	14	70924559	70924559	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr14:70924559G>A	ENST00000603540.1	+	2	601	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	ADAM21_ENST00000267499.3_Missense_Mutation_p.V115M|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	115					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.V115M(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)		TCATGGTTACGTGGAGGCAGC	0.473																																					p.V115M		.											ADAM21,NS,NS,0,1	ADAM21	0	1	Substitution - Missense(1)	pancreas(1)	c.G343A						.						95	127	116					14																	70924559		2199	4300	6499	SO:0001583	missense	8747	exon2			GGTTACGTGGAGG	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.343G>A	14.37:g.70924559G>A	ENSP00000474385:p.Val115Met	30	0		47	2	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	8.576	0.881257	0.17467	.	.	ENSG00000139985	ENST00000267499	T	0.17054	2.3	3.76	1.71	0.24356	Peptidase M12B, propeptide (1);	0.000000	0.38548	U	0.001641	T	0.34745	0.0908	M	0.80982	2.52	0.20196	N	0.99992	D	0.71674	0.998	D	0.70487	0.969	T	0.04005	-1.0985	10	0.46703	T	0.11	.	5.2331	0.15432	0.1846:0.0:0.6515:0.164	.	115	Q9UKJ8	ADA21_HUMAN	M	115	ENSP00000267499:V115M	ENSP00000267499:V115M	V	+	1	0	ADAM21	69994312	0.995000	0.38212	0.477000	0.27303	0.241000	0.25554	2.479000	0.45197	0.911000	0.36747	0.557000	0.71058	GTG	.		0.473	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			A	70924559	G	A	70924559	3	1	35	1	0	0	0	0	1	0	0	0	243	1145	40	1	345	1	ADAM21	14	70924559	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	290236	70924559	36424981	90	5471											
SHC4	399694	hgsc.bcm.edu;ucsc.edu	37	15	49254750	49254750	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr15:49254750C>T	ENST00000332408.4	-	1	891	c.463G>A	c.(463-465)Gca>Aca	p.A155T		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	155	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AGGGCGGTTGCCCTGTGTCCC	0.627																																					p.A155T		.											.	.	.	0			c.G463A						.						90	79	82					15																	49254750		2197	4295	6492	SO:0001583	missense	399694	exon1			CGGTTGCCCTGTG	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.463G>A	15.37:g.49254750C>T	ENSP00000329668:p.Ala155Thr	43	0		42	4	NM_203349	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423418	0.25639	.	.	ENSG00000185634	ENST00000332408	T	0.05025	3.51	3.81	-1.82	0.07857	.	1.859030	0.02635	N	0.104762	T	0.03871	0.0109	N	0.08118	0	0.09310	N	0.999999	B	0.13145	0.007	B	0.10450	0.005	T	0.42137	-0.9469	10	0.18710	T	0.47	-17.1636	9.0225	0.36209	0.0:0.3721:0.4765:0.1514	.	155	Q6S5L8	SHC4_HUMAN	T	155	ENSP00000329668:A155T	ENSP00000329668:A155T	A	-	1	0	SHC4	47042042	0.000000	0.05858	0.005000	0.12908	0.057000	0.15508	0.378000	0.20569	-0.328000	0.08539	0.655000	0.94253	GCA	.		0.627	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		T	49254750	C	T	49254750	3	4	35	1	0	0	0	0	1	0	0	0	14318	739	26	3	1477	3	SHC4	15	49254750	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09		49254750	53276642	91	5472											
THSD4	79875	hgsc.bcm.edu	37	15	71952877	71952877	+	Silent	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr15:71952877C>T	ENST00000355327.3	+	8	1295	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	THSD4_ENST00000357769.4_Silent_p.G27G|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.G387G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	387					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						AGAGCATTGGCTGTGATGACT	0.478																																					p.G387G		.											.	.	.	0			c.C1161T						.						177	175	175					15																	71952877		1957	4168	6125	SO:0001819	synonymous_variant	79875	exon7			CATTGGCTGTGAT	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.1161C>T	15.37:g.71952877C>T		44	0		73	3	NM_024817	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																			.		0.478	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		T	71952877	C	T	71952877	2	4	35	1	0	0	0	0	0	0	0	1	15925	784	28	3		3	THSD4	15	71952877	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	22698127	71952877	30578515	92	5473											
MYO9A	4649	broad.mit.edu	37	15	72190344	72190344	+	Missense_Mutation	SNP	C	C	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr15:72190344C>G	ENST00000356056.5	-	25	4972	c.4500G>C	c.(4498-4500)agG>agC	p.R1500S	MYO9A_ENST00000424560.1_Missense_Mutation_p.R1500S|MYO9A_ENST00000566885.1_Missense_Mutation_p.R1120S|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1500S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1481S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1500	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						ACTGTTTTTGCCTTTCTTCCT	0.388																																					p.R1500S													.	MYO9A	203	0			c.G4500C						.						99	95	97					15																	72190344		2199	4297	6496	SO:0001583	missense	4649	exon25			TTTTTGCCTTTCT	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.4500G>C	15.37:g.72190344C>G	ENSP00000348349:p.Arg1500Ser	44	0		69	3	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386504	0.61956	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.86694	-2.08;-2.16;-2.08	5.88	2.87	0.33458	.	.	.	.	.	D	0.86268	0.5892	L	0.27053	0.805	0.44201	D	0.997029	D;D;P	0.89917	0.993;1.0;0.919	P;D;B	0.72075	0.88;0.976;0.395	T	0.82824	-0.0266	9	0.40728	T	0.16	.	6.7724	0.23601	0.1134:0.62:0.0:0.2666	.	1481;1500;1500	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	S	1500;1500;1481	ENSP00000348349:R1500S;ENSP00000399162:R1500S;ENSP00000398250:R1481S	ENSP00000348349:R1500S	R	-	3	2	MYO9A	69977398	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.426000	0.21363	0.778000	0.33520	0.644000	0.83932	AGG	.		0.388	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		G	72190344	C	G	72190344	3	3	35	1	0	0	0	0	1	0	0	0	10122	738	26	5	3218	5	MYO9A	15	72190344	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	237467	72190344	30341048	93	5474											
NPTN	27020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	73889442	73889442	+	Silent	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr15:73889442G>A	ENST00000345330.4	-	2	557	c.360C>T	c.(358-360)aaC>aaT	p.N120N	NPTN_ENST00000563691.1_Silent_p.N120N|NPTN_ENST00000545878.1_Silent_p.N120N|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000287226.8_Silent_p.N120N|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000542234.1_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	120	Ig-like 1.				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						TCTTGGGGTCGTTGCTGGCCC	0.562																																					p.N120N	Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	.											NPTN,caecum,carcinoma,0,1	NPTN	0	0			c.C360T						.						143	79	101					15																	73889442		2198	4297	6495	SO:0001819	synonymous_variant	27020	exon2			GGGGTCGTTGCTG	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.360C>T	15.37:g.73889442G>A		47	0		47	10	NM_001161363	B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Silent	SNP	ENST00000345330.4	37	CCDS10249.1																																																																																			.		0.562	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428		A	73889442	G	A	73889442	2	1	35	1	0	0	0	0	0	0	0	1	10640	1136	40	1		1	NPTN	15	73889442	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	1699098	73889442	28641950	94	5475											
SLCO3A1	28232	broad.mit.edu	37	15	92706141	92706141	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr15:92706141G>T	ENST00000318445.6	+	10	2123	c.1909G>T	c.(1909-1911)Gcc>Tcc	p.A637S	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.A637S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	637					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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CAAATCCTTCGCCTTCATCCT	0.547																																					p.A637S													.	SLCO3A1	84	0			c.G1909T						.						138	97	111					15																	92706141		2198	4298	6496	SO:0001583	missense	28232	exon10			TCCTTCGCCTTCA	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1909G>T	15.37:g.92706141G>T	ENSP00000320634:p.Ala637Ser	27	0		36	3	NM_013272	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946330	0.53079	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.81659	-1.52;-1.52	5.44	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	N	0.24115	0.695	0.80722	D	1	D;D;P	0.89917	0.978;1.0;0.785	P;D;B	0.87578	0.869;0.998;0.347	T	0.75054	-0.3453	10	0.05959	T	0.93	.	16.1686	0.81788	0.0:0.1336:0.8664:0.0	.	579;637;637	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	637;637;356	ENSP00000320634:A637S;ENSP00000387846:A637S	ENSP00000320634:A637S	A	+	1	0	SLCO3A1	90507145	1.000000	0.71417	0.720000	0.30636	0.927000	0.56198	9.195000	0.94971	1.266000	0.44231	-0.175000	0.13238	GCC	.		0.547	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		T	92706141	G	T	92706141	3	4	35	1	0	0	0	0	1	0	0	0	14773	1087	38	2	1947	2	SLCO3A1	15	92706141	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	18816699	92706141	9825251	95	5476											
ZNF423	23090	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	49823430	49823430	+	Missense_Mutation	SNP	G	G	A	rs377503772		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr16:49823430G>A	ENST00000561648.1	-	2	97	c.44C>T	c.(43-45)tCg>tTg	p.S15L	ZNF423_ENST00000262383.2_Missense_Mutation_p.S15L|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000562520.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	15					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)				CCAGGCCAGCGAGAAGTCTGA	0.582																																					p.S15L		.											ZNF423_ENST00000262383,colon,carcinoma,0,2	ZNF423_ENST00000262383	0	0			c.C44T						.	G	LEU/SER	0,4396		0,0,2198	45	43	43		44	5.3	1	16		43	1,8599		0,1,4299	no	missense	ZNF423	NM_015069.2	145	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	15/1285	49823430	1,12995	2198	4300	6498	SO:0001583	missense	23090	exon2			GCCAGCGAGAAGT	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.44C>T	16.37:g.49823430G>A	ENSP00000455426:p.Ser15Leu	55	0		59	7	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881918	0.51908	0.0	1.16E-4	ENSG00000102935	ENST00000262383	T	0.08546	3.08	5.29	5.29	0.74685	.	0.348051	0.21608	N	0.071835	T	0.05410	0.0143	N	0.08118	0	0.33937	D	0.642803	B	0.11235	0.004	B	0.04013	0.001	T	0.30475	-0.9977	9	.	.	.	.	17.1203	0.86700	0.0:0.0:1.0:0.0	.	15	Q2M1K9	ZN423_HUMAN	L	15	ENSP00000262383:S15L	.	S	-	2	0	ZNF423	48380931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.459000	0.60102	2.470000	0.83445	0.462000	0.41574	TCG	.		0.582	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49823430	G	A	49823430	3	1	35	1	0	0	0	0	1	0	0	0	17946	1059	37	1	3838	1	ZNF423	16	49823430	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		49823430	40531323	96	5477											
SALL1	6299	broad.mit.edu	37	16	51173869	51173869	+	Missense_Mutation	SNP	A	A	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr16:51173869A>C	ENST00000251020.4	-	2	2297	c.2264T>G	c.(2263-2265)gTc>gGc	p.V755G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.V658G|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	755					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)			AGCACGATGGACACTGTAGTG	0.532																																					p.V755G	GBM(103;1352 1446 1855 4775 8890)												.	SALL1	301	0			c.T2264G						.						77	79	78					16																	51173869		2198	4300	6498	SO:0001583	missense	6299	exon2			CGATGGACACTGT	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.2264T>G	16.37:g.51173869A>C	ENSP00000251020:p.Val755Gly	55	0		57	5	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074515	0.55646	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.10288	2.89;2.89	5.17	5.17	0.71159	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	0.27313	0.0670	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.00934	-1.1509	10	0.66056	D	0.02	.	15.0529	0.71888	1.0:0.0:0.0:0.0	.	755	Q9NSC2	SALL1_HUMAN	G	755;658;719	ENSP00000251020:V755G;ENSP00000407914:V658G	ENSP00000251020:V755G	V	-	2	0	SALL1	49731370	1.000000	0.71417	0.993000	0.49108	0.787000	0.44495	9.339000	0.96797	1.959000	0.56917	0.248000	0.18094	GTC	.		0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51173869	A	C	51173869	3	2	35	1	0	0	0	0	1	0	0	0	13855	275	10	4	1718	4	SALL1	16	51173869	Missense_Mutation	SNP	A	TCGA-ZU-A8S4-01A-11D-A417-09	1350439	51173869	39180884	97	5478											
IMP5	162540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	43923030	43923030	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr17:43923030C>T	ENST00000329196.5	+	1	775	c.758C>T	c.(757-759)cCg>cTg	p.P253L	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	253						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)										GACTTCACGCCGGCCATGACA	0.567																																					p.P253L		.											.	.	.	0			c.C758T						.						83	79	80					17																	43923030		2203	4300	6503	SO:0001583	missense	162540	exon1			TCACGCCGGCCAT		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.758C>T	17.37:g.43923030C>T	ENSP00000332488:p.Pro253Leu	30	0		41	9	NM_175882	Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	C	7.938	0.742242	0.15642	.	.	ENSG00000185294	ENST00000329196	T	0.16196	2.36	5.24	3.27	0.37495	.	0.000000	0.42420	D	0.000711	T	0.21427	0.0516	M	0.65677	2.01	0.80722	D	1	P	0.36378	0.55	B	0.40940	0.344	T	0.02093	-1.1215	10	0.87932	D	0	-29.6919	7.6613	0.28404	0.0:0.812:0.0:0.188	.	253	Q8IUH8	IMP5_HUMAN	L	253	ENSP00000332488:P253L	ENSP00000332488:P253L	P	+	2	0	AC217771.1	41278810	0.003000	0.15002	0.267000	0.24556	0.053000	0.15095	1.021000	0.30040	0.800000	0.34041	-0.136000	0.14681	CCG	.		0.567	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		T	43923030	C	T	43923030	3	4	35	1	0	0	0	0	1	0	0	0	7748	652	23	1	760	1	IMP5	17	43923030	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09		43923030	37272180	98	5479											
SPATA20	64847	broad.mit.edu	37	17	48626266	48626266	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr17:48626266G>T	ENST00000356488.4	+	4	492	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L	SPATA20_ENST00000393244.3_Missense_Mutation_p.V93L|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.V153L	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	137					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)			CTTTGTGAGTGTGAAGGTAGA	0.582																																					p.V153L													.	SPATA20	59	0			c.G457T						.						174	129	144					17																	48626266		2203	4300	6503	SO:0001583	missense	64847	exon5			GTGAGTGTGAAGG		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.409G>T	17.37:g.48626266G>T	ENSP00000348878:p.Val137Leu	39	0		47	3	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867965	0.51588	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.54479	0.57;0.57;0.57	4.72	2.69	0.31865	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.227351	0.36815	N	0.002386	T	0.67869	0.2939	M	0.85099	2.735	0.35484	D	0.798435	D;P;P	0.54601	0.967;0.835;0.659	P;P;P	0.62014	0.897;0.612;0.477	T	0.76438	-0.2959	10	0.72032	D	0.01	-32.1228	7.5465	0.27770	0.254:0.0:0.746:0.0	.	137;137;153	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	L	153;137;93	ENSP00000006658:V153L;ENSP00000348878:V137L;ENSP00000376935:V93L	ENSP00000006658:V153L	V	+	1	0	SPATA20	45981265	0.999000	0.42202	0.910000	0.35882	0.199000	0.23934	3.572000	0.53849	2.167000	0.68274	0.436000	0.28706	GTG	.		0.582	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		T	48626266	G	T	48626266	3	4	35	1	0	0	0	0	1	0	0	0	15053	1377	48	3	475	3	SPATA20	17	48626266	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	4703236	48626266	32568944	99	5480											
CA10	56934	hgsc.bcm.edu;bcgsc.ca	37	17	49710967	49710967	+	Silent	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr17:49710967G>T	ENST00000285273.4	-	9	1945	c.834C>A	c.(832-834)atC>atA	p.I278I	CA10_ENST00000442502.2_Silent_p.I278I|CA10_ENST00000340813.6_Silent_p.I284I|CA10_ENST00000570565.1_Silent_p.I203I|CA10_ENST00000451037.2_Silent_p.I278I|CA10_ENST00000571918.1_5'Flank	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	278					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)	TGCTCAGAAAGATCTGAGATG	0.512																																					p.I278I		.											CA10,NS,carcinoma,0,1	CA10	0	0			c.C834A						.						108	93	98					17																	49710967		2203	4300	6503	SO:0001819	synonymous_variant	56934	exon9			CAGAAAGATCTGA	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.834C>A	17.37:g.49710967G>T		42	0		60	4	NM_001082534	B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	CCDS32684.1																																																																																			.		0.512	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		T	49710967	G	T	49710967	2	4	35	1	0	0	0	0	0	0	0	1	2518	932	33	3		3	CA10	17	49710967	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	1084701	49710967	31484243	100	5481											
TEX14	56155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	56699023	56699023	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr17:56699023C>T	ENST00000240361.8	-	5	627	c.542G>A	c.(541-543)gGc>gAc	p.G181D	TEX14_ENST00000389934.3_Missense_Mutation_p.G181D|TEX14_ENST00000349033.5_Missense_Mutation_p.G181D			Q8IWB6	TEX14_HUMAN	testis expressed 14	181					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)					CTGCACGAGGCCCCCACACCA	0.612																																					p.G181D		.											.	.	.	0			c.G542A						.						58	52	54					17																	56699023		2203	4300	6503	SO:0001583	missense	56155	exon5			ACGAGGCCCCCAC	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.542G>A	17.37:g.56699023C>T	ENSP00000240361:p.Gly181Asp	30	0		42	5	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092929	0.56075	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79749	-1.3;-1.3;-1.25	5.42	5.42	0.78866	.	0.260319	0.33691	N	0.004658	T	0.79058	0.4382	L	0.29908	0.895	0.27829	N	0.941501	P;P;P	0.45126	0.768;0.851;0.851	B;P;P	0.48982	0.393;0.597;0.597	T	0.76200	-0.3046	10	0.87932	D	0	-10.9605	16.3091	0.82863	0.0:1.0:0.0:0.0	.	181;181;181	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	D	181	ENSP00000240361:G181D;ENSP00000374584:G181D;ENSP00000268910:G181D	ENSP00000240361:G181D	G	-	2	0	TEX14	54054022	0.673000	0.27539	0.994000	0.49952	0.132000	0.20833	1.393000	0.34497	2.700000	0.92200	0.563000	0.77884	GGC	.		0.612	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			T	56699023	C	T	56699023	3	4	35	1	0	0	0	0	1	0	0	0	15825	739	26	3	4049	3	TEX14	17	56699023	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	6988056	56699023	24496187	101	5482											
ARHGAP28	79822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	6873450	6873450	+	Missense_Mutation	SNP	G	G	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr18:6873450G>C	ENST00000383472.4	+	8	1101	c.997G>C	c.(997-999)Gga>Cga	p.G333R	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G174R|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G156R|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.G169R|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.G174R|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.G281R|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.G174R|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G333R			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	333					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)				AACTGAAGCAGGAGATCTGTC	0.353																																					p.G174R		.											.	.	.	0			c.G520C						.						129	131	130					18																	6873450		2203	4300	6503	SO:0001583	missense	79822	exon7			GAAGCAGGAGATC	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.997G>C	18.37:g.6873450G>C	ENSP00000372964:p.Gly333Arg	43	0		73	9	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.059891	0.76074	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.09445	3.16;3.12;3.04;3.03;3.04;2.98	5.26	4.38	0.52667	.	0.500026	0.24191	N	0.040702	T	0.30759	0.0775	M	0.71206	2.165	0.43550	D	0.995854	D;D;D;D	0.65815	0.964;0.991;0.995;0.995	P;P;D;D	0.66847	0.564;0.891;0.947;0.923	T	0.04737	-1.0930	10	0.72032	D	0.01	.	14.1891	0.65625	0.0726:0.0:0.9274:0.0	.	333;165;174;281	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	R	333;281;174;169;174;174;165;156	ENSP00000382963:G333R;ENSP00000262227:G281R;ENSP00000392660:G174R;ENSP00000437262:G169R;ENSP00000313506:G174R;ENSP00000406907:G174R	ENSP00000262227:G281R	G	+	1	0	ARHGAP28	6863450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.331000	0.59273	1.352000	0.45808	-0.145000	0.13849	GGA	.		0.353	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		C	6873450	G	C	6873450	3	2	35	1	0	0	0	0	1	0	0	0	877	1001	35	5	542	5	ARHGAP28	18	6873450	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		6873450	71203798	102	5483											
FAM38B	63895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	10797478	10797478	+	Missense_Mutation	SNP	T	T	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr18:10797478T>A	ENST00000503781.3	-	12	1420	c.1421A>T	c.(1420-1422)gAa>gTa	p.E474V	PIEZO2_ENST00000580640.1_Missense_Mutation_p.E474V|PIEZO2_ENST00000302079.6_Missense_Mutation_p.E474V	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	474	Glu-rich.				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)										GCTCCTttcttcttcaaattc	0.353																																					p.E474V		.											.	.	.	0			c.A1421T						.						250	211	223					18																	10797478		692	1591	2283	SO:0001583	missense	63895	exon12			CTTTCTTCTTCAA	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.1421A>T	18.37:g.10797478T>A	ENSP00000421377:p.Glu474Val	85	0		104	10	NM_022068	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	T	12.09	1.832501	0.32421	.	.	ENSG00000154864	ENST00000302079	T	0.74002	-0.8	5.31	4.16	0.48862	.	0.474876	0.24111	N	0.041457	T	0.65565	0.2703	N	0.24115	0.695	0.80722	D	1	.	.	.	.	.	.	T	0.60732	-0.7205	8	0.30854	T	0.27	-0.9962	10.2683	0.43468	0.0:0.0804:0.0:0.9196	.	.	.	.	V	474	ENSP00000303316:E474V	ENSP00000303316:E474V	E	-	2	0	FAM38B	10787478	1.000000	0.71417	0.993000	0.49108	0.793000	0.44817	1.312000	0.33574	0.972000	0.38314	0.528000	0.53228	GAA	.		0.353	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		A	10797478	T	A	10797478	3	1	35	1	0	0	0	0	1	0	0	0	5577	1783	62	5	7001	5	FAM38B	18	10797478	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09	3924028	10797478	67279770	103	5484											
RTTN	25914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	67742716	67742716	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr18:67742716G>A	ENST00000255674.6	-	33	4722	c.4436C>T	c.(4435-4437)gCt>gTt	p.A1479V	RTTN_ENST00000437017.1_Missense_Mutation_p.A1479V|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1479					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)				ATATAAAAGAGCCTGAAGGGC	0.413																																					p.A1479V		.											.	.	.	0			c.C4436T						.						73	71	72					18																	67742716		1861	4084	5945	SO:0001583	missense	25914	exon33			AAAAGAGCCTGAA	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.4436C>T	18.37:g.67742716G>A	ENSP00000255674:p.Ala1479Val	40	0		47	7	NM_173630	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849064	0.71603	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.74842	-0.1;-0.88	5.52	4.65	0.58169	.	0.171085	0.51477	D	0.000093	T	0.79353	0.4431	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	P	0.61874	0.895	T	0.75654	-0.3243	10	0.27785	T	0.31	.	12.0689	0.53605	0.0791:0.0:0.9209:0.0	.	1479	Q86VV8	RTTN_HUMAN	V	1479	ENSP00000255674:A1479V;ENSP00000399520:A1479V	ENSP00000255674:A1479V	A	-	2	0	RTTN	65893696	1.000000	0.71417	0.970000	0.41538	0.716000	0.41182	4.945000	0.63568	2.585000	0.87301	0.555000	0.69702	GCT	.		0.413	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		A	67742716	G	A	67742716	3	1	35	1	0	0	0	0	1	0	0	0	13782	971	34	3	2312	3	RTTN	18	67742716	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	56945238	67742716	10334532	104	5485											
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	1065137	1065137	+	Silent	SNP	G	G	A	rs367736927	byFrequency	TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr19:1065137G>A	ENST00000263094.6	+	46	6483	c.6252G>A	c.(6250-6252)gaG>gaA	p.E2084E	HMHA1_ENST00000313093.2_5'Flank|ABCA7_ENST00000433129.1_Silent_p.E2084E|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.E1946E|HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000586866.1_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2084					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)		ACGGCGTGGAGGACTTTTCCG	0.736											OREG0025112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0015	0	5008	,	,		12986	0		0	False		,,,				2504	0				p.E2084E		.											.	.	.	0			c.G6252A						.	G		2,4362		0,2,2180	17	19	18		6252	0.2	1	19		18	0,8570		0,0,4285	no	coding-synonymous	ABCA7	NM_019112.3		0,2,6465	AA,AG,GG		0.0,0.0458,0.0155		2084/2147	1065137	2,12932	2182	4285	6467	SO:0001819	synonymous_variant	10347	exon46			CGTGGAGGACTTT	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.6252G>A	19.37:g.1065137G>A		28	0	593	42	7	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			.		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1065137	G	A	1065137	2	1	35	1	0	0	0	0	0	0	0	1	37	991	35	3		3	ABCA7	19	1065137	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09		1065137	58063846	105	5486											
SMARCA4	6597	broad.mit.edu	37	19	11141508	11141508	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr19:11141508G>T	ENST00000429416.3	+	26	3766	c.3485G>T	c.(3484-3486)gGc>gTc	p.G1162V	SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162V|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1162V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				GGGGGGCTCGGCCTGAACCTC	0.612			"F, N, Mis"		NSCLC																																p.G1162V				Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	SMARCA4_ENST00000358026,right_upper_lobe,carcinoma,+1,3	SMARCA4	502	1	Unknown(1)	lung(1)	c.G3485T						.						24	25	25					19																	11141508		2196	4296	6492	SO:0001583	missense	6597	exon25			GGCTCGGCCTGAA	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.3485G>T	19.37:g.11141508G>T	ENSP00000395654:p.Gly1162Val	79	0		99	5	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602416	0.87157	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.99982	5.21	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;1.0;1.0;1.0;1.0;1.0	D	0.97655	1.0157	10	0.87932	D	0	-37.1265	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1162;1162;1162;1162;1162;382;1162;1162	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	V	1162;1162;1226;1162;1162;1162;1162;1162	ENSP00000395654:G1162V;ENSP00000350720:G1162V;ENSP00000343896:G1162V;ENSP00000445036:G1162V;ENSP00000392837:G1162V;ENSP00000397783:G1162V;ENSP00000414727:G1162V	ENSP00000343896:G1162V	G	+	2	0	SMARCA4	11002508	1.000000	0.71417	0.944000	0.38274	0.993000	0.82548	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GGC	.		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11141508	G	T	11141508	3	4	35	1	0	0	0	0	1	0	0	0	14815	1203	42	3	3579	3	SMARCA4	19	11141508	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	10076371	11141508	47987475	106	5487											
TM6SF2	53345	hgsc.bcm.edu	37	19	19377337	19377337	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr19:19377337G>A	ENST00000389363.4	-	9	958	c.886C>T	c.(886-888)Cca>Tca	p.P296S	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'Flank	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	296						integral component of membrane (GO:0016021)		p.P296S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCCCAGTCTGGAAGCCAGGAG	0.577																																					p.P296S		.											TM6SF2,NS,carcinoma,0,1	TM6SF2	0	1	Substitution - Missense(1)	lung(1)	c.C886T						.						71	83	79					19																	19377337		2129	4248	6377	SO:0001583	missense	53345	exon9			AGTCTGGAAGCCA	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.886C>T	19.37:g.19377337G>A	ENSP00000374014:p.Pro296Ser	33	0		63	2	NM_001001524	Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.319891	0.41096	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.22945	1.93	5.34	5.34	0.76211	.	0.172029	0.27262	U	0.020173	T	0.39759	0.1090	M	0.72894	2.215	0.33789	D	0.625256	D	0.52996	0.957	P	0.54431	0.752	T	0.52808	-0.8526	10	0.31617	T	0.26	-15.0799	11.1392	0.48392	0.0857:0.0:0.9143:0.0	.	296	Q9BZW4	TM6S2_HUMAN	S	296	ENSP00000374014:P296S	ENSP00000269990:P296S	P	-	1	0	TM6SF2	19238337	1.000000	0.71417	0.990000	0.47175	0.825000	0.46686	2.568000	0.45965	2.505000	0.84491	0.561000	0.74099	CCA	.		0.577	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		A	19377337	G	A	19377337	3	1	35	1	0	0	0	0	1	0	0	0	16020	1174	41	3	255	3	TM6SF2	19	19377337	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	8235829	19377337	39751646	107	5488											
ZNF569	148266	hgsc.bcm.edu	37	19	37905042	37905042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr19:37905042G>T	ENST00000316950.6	-	6	1075	c.518C>A	c.(517-519)tCa>tAa	p.S173*	ZNF569_ENST00000392149.2_Nonsense_Mutation_p.S173*|ZNF569_ENST00000392150.2_Nonsense_Mutation_p.S14*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	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)			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)			ATTACCATATGATTTCACAGG	0.348																																					p.S173X		.											.	.	.	0			c.C518A						.						83	81	82					19																	37905042		2203	4300	6503	SO:0001587	stop_gained	148266	exon6			CCATATGATTTCA	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.518C>A	19.37:g.37905042G>T	ENSP00000325018:p.Ser173*	46	0		74	4	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Nonsense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878724	0.97055	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	.	.	.	3.0	1.96	0.26148	.	0.563638	0.13488	N	0.384166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	9.6688	0.40000	0.1132:0.0:0.8868:0.0	.	.	.	.	X	173;14	.	ENSP00000325018:S173X	S	-	2	0	ZNF569	42596882	0.040000	0.19996	0.076000	0.20297	0.392000	0.30506	1.479000	0.35453	0.838000	0.34948	-0.229000	0.12294	TCA	.		0.348	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		T	37905042	G	T	37905042	4	4	35	1	0	0	0	0	0	1	0	0	18048	1294	45	3	1546	3	ZNF569	19	37905042	Nonsense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	18527705	37905042	21223941	108	5489											
RYR1	6261	hgsc.bcm.edu	37	19	39016093	39016093	+	Missense_Mutation	SNP	C	C	T	rs374061380		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr19:39016093C>T	ENST00000359596.3	+	71	10577	c.10577C>T	c.(10576-10578)gCg>gTg	p.A3526V	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.A3521V|RYR1_ENST00000360985.3_Missense_Mutation_p.A3526V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3526					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.A3526V(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)	AATATGTGTGCGCCCACCGAC	0.642																																					p.A3526V		.											RYR1,colon,carcinoma,0,1	RYR1	0	1	Substitution - Missense(1)	large_intestine(1)	c.C10577T						.						105	87	93					19																	39016093		2203	4300	6503	SO:0001583	missense	6261	exon71			TGTGTGCGCCCAC	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.10577C>T	19.37:g.39016093C>T	ENSP00000352608:p.Ala3526Val	26	0		47	2	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321849	0.60634	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96940	-4.17;-4.18;-4.17	4.15	4.15	0.48705	.	0.085770	0.48286	U	0.000199	D	0.92708	0.7682	L	0.47016	1.485	0.42701	D	0.993616	P;P;P	0.51791	0.948;0.901;0.84	B;B;B	0.34418	0.182;0.182;0.089	D	0.93228	0.6615	10	0.42905	T	0.14	.	16.5643	0.84575	0.0:1.0:0.0:0.0	.	3526;3521;3526	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	V	3526;3521;3526;446	ENSP00000352608:A3526V;ENSP00000347667:A3521V;ENSP00000354254:A3526V	ENSP00000347667:A3521V	A	+	2	0	RYR1	43707933	1.000000	0.71417	0.927000	0.36925	0.971000	0.66376	7.397000	0.79903	2.302000	0.77476	0.655000	0.94253	GCG	.		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39016093	C	T	39016093	3	4	35	1	0	0	0	0	1	0	0	0	13813	768	27	1	10859	1	RYR1	19	39016093	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	1111051	39016093	20112890	109	5490											
NLRP8	126205	hgsc.bcm.edu	37	19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr19:56466176C>T	ENST00000291971.3	+	3	823	c.752C>T	c.(751-753)aCg>aTg	p.T251M	NLRP8_ENST00000590542.1_Missense_Mutation_p.T251M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T251M(1)		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)		GTGAACCAGACGACAGACCAG	0.512																																					p.T251M		.											NLRP8_ENST00000291971,bladder,carcinoma,0,1	NLRP8_ENST00000291971	0	1	Substitution - Missense(1)	urinary_tract(1)	c.C752T						.						145	138	141					19																	56466176		2203	4300	6503	SO:0001583	missense	126205	exon3			ACCAGACGACAGA	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.752C>T	19.37:g.56466176C>T	ENSP00000291971:p.Thr251Met	28	1		69	3	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	c	7.212	0.595529	0.13875	.	.	ENSG00000179709	ENST00000291971	T	0.23552	1.9	2.04	-4.08	0.03963	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.09158	0.0226	N	0.05383	-0.06	0.09310	N	1	B;B	0.23540	0.087;0.064	B;B	0.24394	0.024;0.053	T	0.15321	-1.0441	9	0.25106	T	0.35	.	1.0658	0.01611	0.1357:0.261:0.2708:0.3325	.	251;251	Q86W28-2;Q86W28	.;NALP8_HUMAN	M	251	ENSP00000291971:T251M	ENSP00000291971:T251M	T	+	2	0	NLRP8	61157988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.211000	0.09332	-2.972000	0.00286	-0.279000	0.10071	ACG	.		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56466176	C	T	56466176	3	4	35	1	0	0	0	0	1	0	0	0	10522	536	19	1	762	1	NLRP8	19	56466176	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	17450083	56466176	2662807	110	5491											
DEFB126	81623	hgsc.bcm.edu	37	20	126314	126314	+	Missense_Mutation	SNP	C	C	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr20:126314C>G	ENST00000382398.3	+	2	577	c.317C>G	c.(316-318)cCc>cGc	p.P106R	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	106					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				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)			GCTCCTACCCCCGTTTCTCCC	0.458																																					p.P106R		.											DEFB126,NS,carcinoma,0,1	DEFB126	0	0			c.C317G						.						108	109	109					20																	126314		2203	4300	6503	SO:0001583	missense	81623	exon2			CTACCCCCGTTTC		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.317C>G	20.37:g.126314C>G	ENSP00000371835:p.Pro106Arg	19	0		35	2	NM_030931	Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	5.857	0.342300	0.11069	.	.	ENSG00000125788	ENST00000382398	T	0.40225	1.04	1.54	0.534	0.17127	.	.	.	.	.	T	0.23370	0.0565	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.13407	0.009	T	0.14980	-1.0453	9	0.44086	T	0.13	0.0422	5.6779	0.17759	0.0:0.655:0.345:0.0	.	106	Q9BYW3	DB126_HUMAN	R	106	ENSP00000371835:P106R	ENSP00000371835:P106R	P	+	2	0	DEFB126	74314	0.000000	0.05858	0.011000	0.14972	0.008000	0.06430	0.034000	0.13776	0.202000	0.20498	-0.264000	0.10439	CCC	.		0.458	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		G	126314	C	G	126314	3	3	35	1	0	0	0	0	1	0	0	0	4425	623	22	5	323	5	DEFB126	20	126314	Missense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09		126314	62899206	111	5492											
TMEM90B	79953	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	24524207	24524207	+	Missense_Mutation	SNP	G	G	C			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr20:24524207G>C	ENST00000376862.3	+	2	1107	c.474G>C	c.(472-474)gaG>gaC	p.E158D		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	158					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						AGTTCCAGGAGCTGGAGGTCA	0.527																																					p.E158D		.											.	.	.	0			c.G474C						.						74	80	78					20																	24524207		2202	4298	6500	SO:0001583	missense	79953	exon2			CCAGGAGCTGGAG	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.474G>C	20.37:g.24524207G>C	ENSP00000366058:p.Glu158Asp	30	0		39	4	NM_024893	Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571510	0.28003	.	.	ENSG00000101463	ENST00000376862	D	0.91631	-2.88	5.7	0.302	0.15786	.	0.120960	0.53938	N	0.000043	D	0.84862	0.5566	L	0.43152	1.355	0.53688	D	0.999971	B	0.14012	0.009	B	0.14578	0.011	T	0.73972	-0.3814	10	0.59425	D	0.04	-27.4696	3.1745	0.06564	0.2112:0.1175:0.5504:0.1209	.	158	Q9H7V2	SYNG1_HUMAN	D	158	ENSP00000366058:E158D	ENSP00000366058:E158D	E	+	3	2	SYNDIG1	24472207	1.000000	0.71417	0.998000	0.56505	0.575000	0.36095	1.069000	0.30641	0.076000	0.16826	-0.136000	0.14681	GAG	.		0.527	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		C	24524207	G	C	24524207	3	2	35	1	0	0	0	0	1	0	0	0	16266	962	34	5	476	5	TMEM90B	20	24524207	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	24397893	24524207	38501313	112	5493											
PYGB	5834	hgsc.bcm.edu	37	20	25269107	25269107	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr20:25269107G>T	ENST00000216962.4	+	15	1925	c.1815G>T	c.(1813-1815)atG>atT	p.M605I		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	605					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						GGACTGTTATGATTGGGGGCA	0.597																																					p.M605I		.											PYGB,NS,carcinoma,0,1	PYGB	0	0			c.G1815T						.						149	141	144					20																	25269107		2203	4300	6503	SO:0001583	missense	5834	exon15			TGTTATGATTGGG		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.1815G>T	20.37:g.25269107G>T	ENSP00000216962:p.Met605Ile	33	0		45	2	NM_002862	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004719	0.07773	.	.	ENSG00000100994	ENST00000216962	D	0.90197	-2.63	4.14	3.19	0.36642	.	0.035568	0.85682	N	0.000000	T	0.71126	0.3303	N	0.01493	-0.835	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.67284	-0.5709	10	0.02654	T	1	-53.7915	11.8766	0.52550	0.0871:0.0:0.9129:0.0	.	605	P11216	PYGB_HUMAN	I	605	ENSP00000216962:M605I	ENSP00000216962:M605I	M	+	3	0	PYGB	25217107	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	4.372000	0.59530	1.097000	0.41459	0.563000	0.77884	ATG	.		0.597	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		T	25269107	G	T	25269107	3	4	35	1	0	0	0	0	1	0	0	0	12905	1290	45	3	1873	3	PYGB	20	25269107	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	744900	25269107	37756413	113	5494											
AURKA	6790	hgsc.bcm.edu	37	20	54963211	54963211	+	Splice_Site	SNP	C	C	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr20:54963211C>G	ENST00000347343.2	-	2	310		c.e2+1		AURKA_ENST00000395914.1_Splice_Site|AURKA_ENST00000395907.1_Splice_Site|AURKA_ENST00000395909.4_Splice_Site|AURKA_ENST00000395911.1_Splice_Site|AURKA_ENST00000395915.3_Splice_Site|AURKA_ENST00000395913.3_Splice_Site|AURKA_ENST00000312783.6_Splice_Site|AURKA_ENST00000371356.2_Splice_Site	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.?(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			ATTCAATTTACCTTAACAGGT	0.358																																					.	Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	.											AURKA,NS,carcinoma,0,1	AURKA	0	1	Unknown(1)	lung(1)	c.42+1G>C						.						110	116	114					20																	54963211		2203	4300	6503	SO:0001630	splice_region_variant	6790	exon4			AATTTACCTTAAC	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11393	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 47", "Aurora-A kinase"	603072	"serine/threonine kinase 15", " serine/threonine kinase 6"	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.42+1G>C	20.37:g.54963211C>G		69	1		75	4	NM_198434	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Splice_Site	SNP	ENST00000347343.2	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843515	0.51057	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6225	0.56612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AURKA	54396618	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.235000	0.51328	2.329000	0.79093	0.585000	0.79938	.	.		0.358	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	Intron	G	54963211	C	G	54963211	5	3	35	1	0	0	0	0	0	0	1	0	1222	521	18	5	1200	5	AURKA	20	54963211	Splice_Site	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	29694104	54963211	8062309	114	5495											
PRDM15	63977	hgsc.bcm.edu;broad.mit.edu	37	21	43279219	43279219	+	Silent	SNP	T	T	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr21:43279219T>G	ENST00000269844.3	-	10	1260	c.1150A>C	c.(1150-1152)Agg>Cgg	p.R384R	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000447207.2_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	384					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						CTGAGCCGCCTCACCAGGCCT	0.677																																					p.R384R		.											.	.	.	0			c.A1150C						.						40	26	31					21																	43279219		2203	4297	6500	SO:0001819	synonymous_variant	63977	exon10			GCCGCCTCACCAG	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.1150A>C	21.37:g.43279219T>G		31	0		44	4	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	CCDS13676.1																																																																																			.		0.677	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		G	43279219	T	G	43279219	2	3	35	1	0	0	0	0	0	0	0	1	12498	1550	54	4		4	PRDM15	21	43279219	Silent	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09		43279219	4850676	115	5496											
MCM3AP	8888	hgsc.bcm.edu;bcgsc.ca	37	21	47690365	47690365	+	Missense_Mutation	SNP	G	G	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr21:47690365G>T	ENST00000397708.1	-	10	2832	c.2578C>A	c.(2578-2580)Cag>Aag	p.Q860K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q860K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	860	SAC3 homology.				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)					GAAGCTGACTGGACCAGTTTG	0.413																																					p.Q860K		.											.	.	.	0			c.C2578A						.						87	85	85					21																	47690365		2203	4300	6503	SO:0001583	missense	8888	exon9			CTGACTGGACCAG	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.2578C>A	21.37:g.47690365G>T	ENSP00000380820:p.Gln860Lys	83	0		102	4	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351369	0.61183	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.26957	1.7;1.7	5.98	5.98	0.97165	.	0.280500	0.40144	N	0.001172	T	0.14614	0.0353	N	0.02334	-0.595	0.47994	D	0.999567	B	0.20550	0.046	B	0.31869	0.137	T	0.22906	-1.0203	10	0.09590	T	0.72	-18.4723	20.4366	0.99092	0.0:0.0:1.0:0.0	.	860	O60318	MCM3A_HUMAN	K	860	ENSP00000380820:Q860K;ENSP00000291688:Q860K	ENSP00000291688:Q860K	Q	-	1	0	MCM3AP	46514793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.057000	0.76669	2.837000	0.97791	0.591000	0.81541	CAG	.		0.413	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		T	47690365	G	T	47690365	3	4	35	1	0	0	0	0	1	0	0	0	9426	1357	47	3	3444	3	MCM3AP	21	47690365	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	4411146	47690365	439530	116	5497											
HSCB	150274	broad.mit.edu	37	22	29138126	29138126	+	Missense_Mutation	SNP	T	T	G			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr22:29138126T>G	ENST00000216027.3	+	1	108	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V	CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000544772.1_5'UTR|HSCB_ENST00000398941.2_Missense_Mutation_p.F15V|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000382565.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	15					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GGTGTGGGGGTTTTGGCCGAC	0.642																																					p.F15V													.	HSCB	16	0			c.T43G						.						12	14	13					22																	29138126		2200	4292	6492	SO:0001583	missense	150274	exon1			TGGGGGTTTTGGC	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"Heat shock proteins / DNAJ (HSP40)"	28913	protein-coding gene	gene with protein product	"DnaJ (Hsp40) homolog, subfamily C, member 20"	608142	"HscB iron-sulfur cluster co-chaperone homolog (E. coli)"			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.43T>G	22.37:g.29138126T>G	ENSP00000216027:p.Phe15Val	35	5		55	9	NM_172002	Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	T	8.543	0.873796	0.17322	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.39592	1.66;1.07	4.54	-4.53	0.03462	.	1.764330	0.02726	N	0.114550	T	0.15349	0.0370	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18999	-1.0319	10	0.23891	T	0.37	0.0023	8.9514	0.35792	0.0:0.5184:0.269:0.2127	.	15	Q8IWL3	HSC20_HUMAN	V	15	ENSP00000216027:F15V;ENSP00000381914:F15V	ENSP00000216027:F15V	F	+	1	0	HSCB	27468126	0.006000	0.16342	0.000000	0.03702	0.023000	0.10783	-0.354000	0.07681	-1.049000	0.03234	-1.235000	0.01560	TTT	.		0.642	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		G	29138126	T	G	29138126	3	3	35	1	0	0	0	0	1	0	0	0	7401	1725	60	4	45	4	HSCB	22	29138126	Missense_Mutation	SNP	T	TCGA-ZU-A8S4-01A-11D-A417-09		29138126	22166440	117	5498											
ZNRF3	84133	hgsc.bcm.edu	37	22	29445659	29445659	+	Missense_Mutation	SNP	G	G	A			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr22:29445659G>A	ENST00000544604.2	+	8	1665	c.1490G>A	c.(1489-1491)cGt>cAt	p.R497H	ZNRF3_ENST00000406323.3_Missense_Mutation_p.R397H|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R397H|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R397H	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	497					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCCCGGCCCGTGCCTTTCCT	0.687																																					p.R497H		.											ZNRF3,NS,carcinoma,0,1	ZNRF3	0	0			c.G1490A						.						17	20	19					22																	29445659		2061	4177	6238	SO:0001583	missense	84133	exon8			CGGCCCGTGCCTT	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1490G>A	22.37:g.29445659G>A	ENSP00000443824:p.Arg497His	7	0		15	2	NM_001206998	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	7.629	0.678463	0.14841	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.53	4.52	0.55395	.	0.100028	0.64402	D	0.000003	T	0.68128	0.2967	L	0.43152	1.355	0.39596	D	0.969668	B	0.26744	0.158	B	0.19946	0.027	T	0.66826	-0.5825	10	0.45353	T	0.12	-1.8037	9.9362	0.41552	0.1543:0.0:0.8457:0.0	.	497	Q9ULT6	ZNRF3_HUMAN	H	497;397;204;397;397	ENSP00000443824:R497H;ENSP00000328614:R397H;ENSP00000384456:R397H;ENSP00000384553:R397H	ENSP00000328614:R397H	R	+	2	0	ZNRF3	27775659	1.000000	0.71417	0.777000	0.31699	0.007000	0.05969	3.454000	0.52986	1.336000	0.45506	-0.137000	0.14449	CGT	.		0.687	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		A	29445659	G	A	29445659	3	1	35	1	0	0	0	0	1	0	0	0	18261	1145	40	1	1216	1	ZNRF3	22	29445659	Missense_Mutation	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	307533	29445659	21858907	118	5499											
PICK1	9463	broad.mit.edu	37	22	38463728	38463728	+	Silent	SNP	C	C	T	rs554539204		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chr22:38463728C>T	ENST00000404072.3	+	5	647	c.300C>T	c.(298-300)caC>caT	p.H100H	PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.H100H	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	100	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGACCATCCACTACAACAAGC	0.607													C|||	1	0.000199681	0	0	5008	,	,		17887	0		0	False		,,,				2504	0.001				p.H100H													.	PICK1	30	0			c.C300T						.						113	93	100					22																	38463728		2203	4300	6503	SO:0001819	synonymous_variant	9463	exon5			CATCCACTACAAC	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.300C>T	22.37:g.38463728C>T		20	0		35	3	NM_012407	B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	CCDS13965.1																																																																																			.		0.607	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		T	38463728	C	T	38463728	2	4	35	1	0	0	0	0	0	0	0	1	11920	564	20	3		3	PICK1	22	38463728	Silent	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09	9018069	38463728	12840838	119	5500											
USP9X	8239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	41088540	41088540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chrX:41088540C>T	ENST00000324545.8	+	42	7729	c.7096C>T	c.(7096-7098)Cga>Tga	p.R2366*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R2366*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2366					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						TCCAGATGACCGAGATGGGCT	0.348																																					p.R2366X	Ovarian(172;1807 2695 35459 49286)	.											.	.	.	0			c.C7096T						.						34	29	31					X																	41088540		2058	4239	6297	SO:0001587	stop_gained	8239	exon42			GATGACCGAGATG	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.7096C>T	X.37:g.41088540C>T	ENSP00000316357:p.Arg2366*	58	0		79	17	NM_001039591	O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	52	18.645916	0.99908	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8524	0.52419	0.4996:0.5003:0.0:0.0	.	.	.	.	X	2366	.	ENSP00000316357:R2366X	R	+	1	2	USP9X	40973484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.237000	0.43061	1.070000	0.40811	0.600000	0.82982	CGA	.		0.348	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		T	41088540	C	T	41088540	4	4	35	1	0	0	0	0	0	1	0	0	17139	644	23	1	7258	1	USP9X	23	41088540	Nonsense_Mutation	SNP	C	TCGA-ZU-A8S4-01A-11D-A417-09		41088540	114182020	120	5501											
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-ZU-A8S4-01A-11D-A417-09	TCGA-ZU-A8S4-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3b04ff-8026-44bb-9b86-c43ac8d4153c	ab65e654-58a5-4d99-b72e-78211c8d1c86	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)												.	NUDT10	28	8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A						.						52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A		55	0		59	4	NM_153183	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																			.		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51076024	G	A	51076024	2	1	35	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-ZU-A8S4-01A-11D-A417-09	9987484	51076024	104194536	121	5502											
